node_id disease_id disease_name source DISEASE_NAME:10_conditions 10 conditions Supplemental_disease_name DISEASE_NAME:10p15_3_microdeletion_syndrome 10p15.3 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:10q11_22q11_23_deletion_syndrome 10q11.22q11.23 deletion syndrome Supplemental_disease_name DISEASE_NAME:10q11_22q11_23_microdeletion_including_chat_and_slc18a3 10q11.22q11.23 microdeletion including CHAT and SLC18A3 Supplemental_disease_name DISEASE_NAME:11_conditions 11 conditions Supplemental_disease_name DISEASE_NAME:11p13_microduplication_syndrome 11p13 microduplication syndrome Supplemental_disease_name DISEASE_NAME:11p13p14_deletion 11p13p14 deletion Supplemental_disease_name DISEASE_NAME:11p_partial_monosomy_syndrome_aniridia_1 11p partial monosomy syndrome;Aniridia 1 Supplemental_disease_name DISEASE_NAME:11p_partial_monosomy_syndrome_drash_syndrome_wilms_tumor_1_frasier_syndrome 11p partial monosomy syndrome;Drash syndrome;Wilms tumor 1;Frasier syndrome Supplemental_disease_name DISEASE_NAME:11p_partial_monosomy_syndrome_frasier_syndrome_drash_syndrome_wilms_tumor_1 11p partial monosomy syndrome;Frasier syndrome;Drash syndrome;Wilms tumor 1 Supplemental_disease_name DISEASE_NAME:11q_partial_monosomy_syndrome 11q partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:12_conditions 12 conditions Supplemental_disease_name DISEASE_NAME:12p13_33_duplication_syndrome 12p13.33 duplication syndrome Supplemental_disease_name DISEASE_NAME:13_conditions 13 conditions Supplemental_disease_name DISEASE_NAME:13q12_2q12_3_deletion 13q12.2q12.3 deletion Supplemental_disease_name DISEASE_NAME:13q12_3_microdeletion 13q12.3 microdeletion Supplemental_disease_name DISEASE_NAME:14_conditions 14 conditions Supplemental_disease_name DISEASE_NAME:14q11_2_microduplication 14q11.2 microduplication Supplemental_disease_name DISEASE_NAME:14q11_2_microduplication_syndrome 14q11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:14q22_2q24_3_duplication 14q22.2q24.3 duplication Supplemental_disease_name DISEASE_NAME:15_conditions 15 conditions Supplemental_disease_name DISEASE_NAME:15q11_2_bp1_bp2_recurrent_deletion 15q11.2 BP1-BP2 recurrent deletion Supplemental_disease_name DISEASE_NAME:15q11q13_microduplication_syndrome 15q11q13 microduplication syndrome Supplemental_disease_name DISEASE_NAME:15q14_microdeletion_syndrome 15q14 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:15q22_2_deletion_syndrome 15q22.2 deletion syndrome Supplemental_disease_name DISEASE_NAME:16_conditions 16 conditions Supplemental_disease_name DISEASE_NAME:16p11_2_duplication_syndrome 16p11.2 duplication syndrome Supplemental_disease_name DISEASE_NAME:16p11_2p12_2_microduplication_syndrome 16p11.2p12.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:16p12_2_microdeletion_syndrome 16p12.2 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:16p12_3p13_12_deletion 16p12.3p13.12 deletion Supplemental_disease_name DISEASE_NAME:16p13_11_microdeletion 16p13.11 microdeletion Supplemental_disease_name DISEASE_NAME:16p13_11_microdeletion_syndrome 16p13.11 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:16p13_11_microduplication_syndrome 16p13.11 microduplication syndrome Supplemental_disease_name DISEASE_NAME:16p13_11_recurrent_microdeletion_syndrome 16p13.11 recurrent microdeletion syndrome Supplemental_disease_name DISEASE_NAME:16p13_11p11_2_triplication_syndrome 16p13.11p11.2 triplication syndrome Supplemental_disease_name DISEASE_NAME:16p13_1_duplication 16p13.1 duplication Supplemental_disease_name DISEASE_NAME:16p13_2_p13_13_microduplication_syndrome 16p13.2-p13.13 microduplication syndrome Supplemental_disease_name DISEASE_NAME:16q24_3_microdeletion_syndrome 16q24.3 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:17_20_lyase_deficiency_isolated 17,20-lyase deficiency, isolated Supplemental_disease_name DISEASE_NAME:17_alpha_hydroxylase_17_20_lyase_deficiency_combined_complete 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete Supplemental_disease_name DISEASE_NAME:17_alpha_hydroxylase_17_20_lyase_deficiency_combined_partial 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial Supplemental_disease_name DISEASE_NAME:17_conditions 17 conditions Supplemental_disease_name DISEASE_NAME:17p11_2_microduplication_syndrome_colorectal_cancer_birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax 17p11.2 microduplication syndrome;Colorectal cancer;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:17p11_2_microduplication_syndrome_colorectal_cancer_familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome 17p11.2 microduplication syndrome;Colorectal cancer;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome Supplemental_disease_name DISEASE_NAME:17p11_2_microduplication_syndrome_familial_spontaneous_pneumothorax_colorectal_cancer_birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma 17p11.2 microduplication syndrome;Familial spontaneous pneumothorax;Colorectal cancer;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_colorectal_cancer_familial_spontaneous_pneumothorax 17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Colorectal cancer;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax_colorectal_cancer 17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Colorectal cancer Supplemental_disease_name DISEASE_NAME:17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma_colorectal_cancer_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome 17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome Supplemental_disease_name DISEASE_NAME:17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_colorectal_cancer 17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Colorectal cancer Supplemental_disease_name DISEASE_NAME:18_conditions 18 conditions Supplemental_disease_name DISEASE_NAME:19_conditions 19 conditions Supplemental_disease_name DISEASE_NAME:1p13_3_deletion_syndrome 1p13.3 deletion syndrome Supplemental_disease_name DISEASE_NAME:1p36_1_deletion_syndrome 1p36.1 deletion syndrome Supplemental_disease_name DISEASE_NAME:1q21_1_microdeletion_syndrome_bp3_bp4_distal 1q21.1 microdeletion syndrome (BP3-BP4, distal) Supplemental_disease_name DISEASE_NAME:1q24q25_microdeletion_syndrome 1q24q25 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:1q32_1microduplication 1q32.1microduplication Supplemental_disease_name DISEASE_NAME:20_conditions 20 conditions Supplemental_disease_name DISEASE_NAME:20p12_3_microdeletion_syndrome 20p12.3 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:20q13_13qter_duplication 20q13.13qter duplication Supplemental_disease_name DISEASE_NAME:21_conditions 21 conditions Supplemental_disease_name DISEASE_NAME:21_hydroxylase_deficient_congenital_adrenal_hyperplasia 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Supplemental_disease_name DISEASE_NAME:21_hydroxylase_polymorphism 21-HYDROXYLASE POLYMORPHISM Supplemental_disease_name DISEASE_NAME:21q22_11q22_12_microdeletion_syndrome 21q22.11q22.12 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:22_conditions 22 conditions Supplemental_disease_name DISEASE_NAME:22q11_2_central_deletion_syndrome 22q11.2 central deletion syndrome Supplemental_disease_name DISEASE_NAME:22q11_2_central_duplication_syndrome 22q11.2 central duplication syndrome Supplemental_disease_name DISEASE_NAME:22q11_2_distal_duplication_syndrome 22q11.2 distal duplication syndrome Supplemental_disease_name DISEASE_NAME:22q13_3_interstitial_deletion 22q13.3 interstitial deletion Supplemental_disease_name DISEASE_NAME:23_conditions 23 conditions Supplemental_disease_name DISEASE_NAME:25_conditions 25 conditions Supplemental_disease_name DISEASE_NAME:27_conditions 27 conditions Supplemental_disease_name DISEASE_NAME:29_conditions 29 conditions Supplemental_disease_name DISEASE_NAME:2_aminoadipic_2_oxoadipic_aciduria_charcot_marie_tooth_disease_axonal_type_2q 2-aminoadipic 2-oxoadipic aciduria;Charcot-Marie-Tooth disease axonal type 2Q Supplemental_disease_name DISEASE_NAME:2p14_microdeletion_syndrome 2p14 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:2p24_1p23_3_microdeletion_syndrome 2p24.1p23.3 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:2q13_microdeletion_syndrome 2q13 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:2q13q22_3_microduplication_syndrome 2q13q22.3 microduplication syndrome Supplemental_disease_name DISEASE_NAME:2q23_1_microdeletion_syndrome 2q23.1 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:2q24_microdeletion_syndrome 2q24 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:30_conditions 30 conditions Supplemental_disease_name DISEASE_NAME:3_4_finger_osseus_syndactyly_abnormal_facial_shape 3-4 finger osseus syndactyly;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:3_4_toe_syndactyly_polycystic_kidney_disease_moderate_sensorineural_hearing_impairment 3-4 toe syndactyly;Polycystic kidney disease;Moderate sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:3_beta_hydroxysteroid_dehydrogenase_deficiency 3 beta-Hydroxysteroid dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:3_hydroxy_3_methylglutaryl_coa_synthase_deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Supplemental_disease_name DISEASE_NAME:3_hydroxyisobutyryl_coa_hydrolase_deficiency 3-hydroxyisobutyryl-CoA hydrolase deficiency Supplemental_disease_name DISEASE_NAME:3_methylcrotonoyl_coa_carboxylase_1_deficiency 3-methylcrotonoyl-CoA carboxylase 1 deficiency Supplemental_disease_name DISEASE_NAME:3_methylcrotonoyl_coa_carboxylase_2_deficiency 3-methylcrotonoyl-CoA carboxylase 2 deficiency Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_2 3-Methylglutaconic aciduria type 2 Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_2_primary_dilated_cardiomyopathy 3-Methylglutaconic aciduria type 2;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_3_optic_atrophy_3 3-Methylglutaconic aciduria type 3;Optic atrophy 3 Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_8_parkinson_disease_13_autosomal_dominant_susceptibility_to 3-methylglutaconic aciduria type 8;Parkinson disease 13, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_viia 3-methylglutaconic aciduria, type VIIA Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_viia_neutropenia_severe_congenital_9_autosomal_dominant_3_methylglutaconic_aciduria_type_viib 3-methylglutaconic aciduria, type VIIA;Neutropenia, severe congenital, 9, autosomal dominant;3-methylglutaconic aciduria, type VIIB Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_viib 3-methylglutaconic aciduria, type VIIB Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_viib_3_methylglutaconic_aciduria_type_viia_neutropenia_severe_congenital_9_autosomal_dominant 3-methylglutaconic aciduria, type VIIB;3-methylglutaconic aciduria, type VIIA;Neutropenia, severe congenital, 9, autosomal dominant Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_viib_neutropenia_severe_congenital_9_autosomal_dominant_3_methylglutaconic_aciduria_type_viia 3-methylglutaconic aciduria, type VIIB;Neutropenia, severe congenital, 9, autosomal dominant;3-methylglutaconic aciduria, type VIIA Supplemental_disease_name DISEASE_NAME:3_oxo_5_alpha_steroid_delta_4_dehydrogenase_deficiency 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:3m_syndrome_1 3M syndrome 1 Supplemental_disease_name DISEASE_NAME:3m_syndrome_2 3M syndrome 2 Supplemental_disease_name DISEASE_NAME:3m_syndrome_3 3M syndrome 3 Supplemental_disease_name DISEASE_NAME:3p25_3p26_3_deletion 3p25.3p26.3 deletion Supplemental_disease_name DISEASE_NAME:3p_syndrome 3p- syndrome Supplemental_disease_name DISEASE_NAME:3q28q29_deletion_syndrome 3q28q29 deletion syndrome Supplemental_disease_name DISEASE_NAME:46_xx_disorder_of_sex_development 46,XX disorder of sex development Supplemental_disease_name DISEASE_NAME:46_xx_ovarian_dysgenesis_short_stature_syndrome 46,XX ovarian dysgenesis-short stature syndrome Supplemental_disease_name DISEASE_NAME:46_xx_sex_reversal_1_46_xy_sex_reversal_1 46,XX sex reversal 1;46,XY sex reversal 1 Supplemental_disease_name DISEASE_NAME:46_xx_sex_reversal_5_congenital_heart_defects_multiple_types_4 46,xx sex reversal 5;Congenital heart defects, multiple types, 4 Supplemental_disease_name DISEASE_NAME:46_xy_differences_of_sex_development 46 XY differences of sex development Supplemental_disease_name DISEASE_NAME:46_xy_differences_of_sex_development_oligosynaptic_infertility 46 XY differences of sex development;Oligosynaptic infertility Supplemental_disease_name DISEASE_NAME:46_xy_disorder_of_sex_development_due_to_testicular_17_20_desmolase_deficiency 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency Supplemental_disease_name DISEASE_NAME:46_xy_gonadal_dysgenesis_motor_and_sensory_neuropathy_syndrome 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome Supplemental_disease_name DISEASE_NAME:46_xy_ovotesticular_disorder_of_sex_development 46,XY ovotesticular disorder of sex development Supplemental_disease_name DISEASE_NAME:46_xy_partial_gonadal_dysgenesis 46,XY partial gonadal dysgenesis Supplemental_disease_name DISEASE_NAME:46_xy_sex_reversal_11 46,XY sex reversal 11 Supplemental_disease_name DISEASE_NAME:46_xy_sex_reversal_11_neurodevelopmental_disorder_with_brain_anomalies_and_with_or_without_vertebral_or_cardiac_anomalies 46,XY sex reversal 11;Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies Supplemental_disease_name DISEASE_NAME:46_xy_sex_reversal_2_congenital_adrenal_hypoplasia_x_linked 46,XY sex reversal 2;Congenital adrenal hypoplasia, X-linked Supplemental_disease_name DISEASE_NAME:46_xy_sex_reversal_3_oligosynaptic_infertility 46,XY sex reversal 3;Oligosynaptic infertility Supplemental_disease_name DISEASE_NAME:46_xy_sex_reversal_3_premature_ovarian_failure_7_46_xx_sex_reversal_4_spermatogenic_failure_8 46,XY sex reversal 3;Premature ovarian failure 7;46,XX sex reversal 4;Spermatogenic failure 8 Supplemental_disease_name DISEASE_NAME:46_xy_sex_reversal_3_spermatogenic_failure_8_46_xx_sex_reversal_4_premature_ovarian_failure_7 46,XY sex reversal 3;Spermatogenic failure 8;46,XX sex reversal 4;Premature ovarian failure 7 Supplemental_disease_name DISEASE_NAME:46_xy_sex_reversal_9_diaphragmatic_hernia_3_tetralogy_of_fallot 46,XY sex reversal 9;Diaphragmatic hernia 3;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:46_xy_true_hermaphroditism 46,XY TRUE HERMAPHRODITISM Supplemental_disease_name DISEASE_NAME:4_5_toe_syndactyly_abnormal_eye_morphology_basal_cell_nevi 4-5 toe syndactyly;Abnormal eye morphology;Basal cell nevi Supplemental_disease_name DISEASE_NAME:4p16_3_microduplication_syndrome 4p16.3 microduplication syndrome Supplemental_disease_name DISEASE_NAME:4p_partial_monosomy_syndrome 4p partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:4p_partial_monosomy_syndrome_rauch_steindl_syndrome 4p partial monosomy syndrome;Rauch-Steindl syndrome Supplemental_disease_name DISEASE_NAME:5_fluorouracil_response 5-fluorouracil response Supplemental_disease_name DISEASE_NAME:5_oxoprolinase_deficiency 5-Oxoprolinase deficiency Supplemental_disease_name DISEASE_NAME:5q14_3_microdeletion 5q14.3 microdeletion Supplemental_disease_name DISEASE_NAME:5q14_3_microdeletion_syndrome 5q14.3 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:5q21_2_q23_1_related_intellectual_disability 5q21.2.q23.1 related Intellectual Disability Supplemental_disease_name DISEASE_NAME:5q35_microduplication_syndrome 5q35 microduplication syndrome Supplemental_disease_name DISEASE_NAME:6_conditions 6 conditions Supplemental_disease_name DISEASE_NAME:6_pyruvoyl_tetrahydrobiopterin_synthase_deficiency 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Supplemental_disease_name DISEASE_NAME:6q14_1q15_deletion 6q14.1q15 deletion Supplemental_disease_name DISEASE_NAME:6q21_6q22_1_deletion 6q21-6q22.1 deletion Supplemental_disease_name DISEASE_NAME:6q22_1_microdeletion_syndrome 6q22.1 Microdeletion Syndrome Supplemental_disease_name DISEASE_NAME:6q_terminal_deletion_syndrome 6q terminal deletion syndrome Supplemental_disease_name DISEASE_NAME:7_conditions 7 conditions Supplemental_disease_name DISEASE_NAME:7p21_3p21_2_microduplication 7p21.3p21.2 microduplication Supplemental_disease_name DISEASE_NAME:7p22_1_microduplication_syndrome 7p22.1 microduplication syndrome Supplemental_disease_name DISEASE_NAME:7q22_microdeletion 7q22 microdeletion Supplemental_disease_name DISEASE_NAME:8_conditions 8 conditions Supplemental_disease_name DISEASE_NAME:8p23_1_duplication_syndrome 8p23.1 duplication syndrome Supplemental_disease_name DISEASE_NAME:8p_inverted_duplication_deletion_syndrome 8p inverted duplication/deletion syndrome Supplemental_disease_name DISEASE_NAME:8q24_3_microdeletion_syndrome 8q24.3 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:9_conditions 9 conditions Supplemental_disease_name DISEASE_NAME:9p23_dn_microdeletion 9p23 dn microdeletion Supplemental_disease_name DISEASE_NAME:9p_partial_trisomy_syndrome 9p partial trisomy syndrome Supplemental_disease_name DISEASE_NAME:9q34_3_microduplication_related_neurodevelopmental_disorder 9q34.3 microduplication-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:9q34_microduplication_syndrome 9q34 microduplication syndrome Supplemental_disease_name DISEASE_NAME:a2m_polymorphism A2M POLYMORPHISM Supplemental_disease_name DISEASE_NAME:a2m_related_disorder A2M-related disorder Supplemental_disease_name DISEASE_NAME:a2ml1_related_disorder A2ML1-related disorder Supplemental_disease_name DISEASE_NAME:a4galt_related_disorder A4GALT-related disorder Supplemental_disease_name DISEASE_NAME:aaas_related_disorder AAAS-related disorder Supplemental_disease_name DISEASE_NAME:aagab_related_disorder AAGAB-related disorder Supplemental_disease_name DISEASE_NAME:aars1_related_disorder AARS1-related disorder Supplemental_disease_name DISEASE_NAME:aars2_related_disorder AARS2-related disorder Supplemental_disease_name DISEASE_NAME:aars_related_disorder AARS-related disorder Supplemental_disease_name DISEASE_NAME:aass_related_disorder AASS-related disorder Supplemental_disease_name DISEASE_NAME:abacavir_hypersensitivity Abacavir hypersensitivity Supplemental_disease_name DISEASE_NAME:abat_related_disorder ABAT-related disorder Supplemental_disease_name DISEASE_NAME:abca12_related_disorder ABCA12-related disorder Supplemental_disease_name DISEASE_NAME:abca13_related_disorder ABCA13-related disorder Supplemental_disease_name DISEASE_NAME:abca13_related_neurodevelopmental_condition ABCA13-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:abca1_related_disorder ABCA1-related disorder Supplemental_disease_name DISEASE_NAME:abca1_related_dyslipidemia ABCA1-related dyslipidemia Supplemental_disease_name DISEASE_NAME:abca2_related_disorder ABCA2-related disorder Supplemental_disease_name DISEASE_NAME:abca3_related_disorder ABCA3-related disorder Supplemental_disease_name DISEASE_NAME:abca4_related_disorder ABCA4-related disorder Supplemental_disease_name DISEASE_NAME:abca4_related_retinopathy ABCA4-related retinopathy Supplemental_disease_name DISEASE_NAME:abca5_related_disorder ABCA5-related disorder Supplemental_disease_name DISEASE_NAME:abca7_related_disorder ABCA7-related disorder Supplemental_disease_name DISEASE_NAME:abcb11_related_disorder ABCB11-related disorder Supplemental_disease_name DISEASE_NAME:abcb1_related_disorder ABCB1-related disorder Supplemental_disease_name DISEASE_NAME:abcb4_related_disorder ABCB4-related disorder Supplemental_disease_name DISEASE_NAME:abcb4_related_intrahepatic_cholestasis ABCB4-Related Intrahepatic Cholestasis Supplemental_disease_name DISEASE_NAME:abcb6_related_disorder ABCB6-related disorder Supplemental_disease_name DISEASE_NAME:abcb7_related_disorder ABCB7-related disorder Supplemental_disease_name DISEASE_NAME:abcc11_related_condition ABCC11-related condition Supplemental_disease_name DISEASE_NAME:abcc1_related_disorder ABCC1-related disorder Supplemental_disease_name DISEASE_NAME:abcc2_related_disorder ABCC2-related disorder Supplemental_disease_name DISEASE_NAME:abcc4_related_disorder ABCC4-related disorder Supplemental_disease_name DISEASE_NAME:abcc6_related_disorder ABCC6-related disorder Supplemental_disease_name DISEASE_NAME:abcc8_related_channelopathies ABCC8-related channelopathies Supplemental_disease_name DISEASE_NAME:abcc8_related_disorder ABCC8-related disorder Supplemental_disease_name DISEASE_NAME:abcc9_related_disorder ABCC9-related disorder Supplemental_disease_name DISEASE_NAME:abcd1_related_disorder ABCD1-related disorder Supplemental_disease_name DISEASE_NAME:abcd3_related_disorder ABCD3-related disorder Supplemental_disease_name DISEASE_NAME:abcd4_related_disorder ABCD4-related disorder Supplemental_disease_name DISEASE_NAME:abcd_syndrome_hirschsprung_disease_susceptibility_to_2_waardenburg_syndrome_type_4a ABCD syndrome;Hirschsprung disease, susceptibility to, 2;Waardenburg syndrome type 4A Supplemental_disease_name DISEASE_NAME:abcd_syndrome_waardenburg_syndrome_type_4a_hirschsprung_disease_susceptibility_to_2 ABCD syndrome;Waardenburg syndrome type 4A;Hirschsprung disease, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:abcg1_related_disorder ABCG1-related disorder Supplemental_disease_name DISEASE_NAME:abcg2_related_disorder ABCG2-related disorder Supplemental_disease_name DISEASE_NAME:abcg5_related_disorder ABCG5-related disorder Supplemental_disease_name DISEASE_NAME:abcg8_related_disorder ABCG8-related disorder Supplemental_disease_name DISEASE_NAME:abdominal_situs_inversus_primary_ciliary_dyskinesia Abdominal situs inversus;Primary ciliary dyskinesia Supplemental_disease_name DISEASE_NAME:abducens_nerve_palsy_lissencephaly_9_with_complex_brainstem_malformation Abducens nerve palsy;Lissencephaly 9 with complex brainstem malformation Supplemental_disease_name DISEASE_NAME:abeta_amyloidosis_arctic_type ABeta amyloidosis, Arctic type Supplemental_disease_name DISEASE_NAME:abeta_amyloidosis_dutch_type ABeta amyloidosis, dutch type Supplemental_disease_name DISEASE_NAME:abeta_amyloidosis_iowa_type ABeta amyloidosis, Iowa type Supplemental_disease_name DISEASE_NAME:abeta_amyloidosis_italian_type ABeta amyloidosis, Italian type Supplemental_disease_name DISEASE_NAME:abetaa21g_amyloidosis ABetaA21G amyloidosis Supplemental_disease_name DISEASE_NAME:abetalipoproteinaemia Abetalipoproteinaemia Supplemental_disease_name DISEASE_NAME:abetalipoproteinaemia_metabolic_syndrome_x Abetalipoproteinaemia;Metabolic syndrome X Supplemental_disease_name DISEASE_NAME:abhd12_related_disorder ABHD12-related disorder Supplemental_disease_name DISEASE_NAME:abhd14a_acy1_related_disorder ABHD14A-ACY1-related disorder Supplemental_disease_name DISEASE_NAME:abhd16a_related_disorder ABHD16A-related disorder Supplemental_disease_name DISEASE_NAME:abhd5_related_disorder ABHD5-related disorder Supplemental_disease_name DISEASE_NAME:abi2_related_disorder ABI2-related disorder Supplemental_disease_name DISEASE_NAME:abl1_related_congenital_heart_defects_and_skeletal_malformations_syndrome ABL1-related congenital heart defects and skeletal malformations syndrome Supplemental_disease_name DISEASE_NAME:abl1_related_disorder ABL1-related disorder Supplemental_disease_name DISEASE_NAME:abl2_related_condition ABL2-related condition Supplemental_disease_name DISEASE_NAME:abnormal_activity_of_mitochondrial_respiratory_chain Abnormal activity of mitochondrial respiratory chain Supplemental_disease_name DISEASE_NAME:abnormal_anterior_chamber_morphology Abnormal anterior chamber morphology Supplemental_disease_name DISEASE_NAME:abnormal_anterior_eye_segment_morphology Abnormal anterior eye segment morphology Supplemental_disease_name DISEASE_NAME:abnormal_aortic_valve_morphology Abnormal aortic valve morphology Supplemental_disease_name DISEASE_NAME:abnormal_aortic_valve_physiology Abnormal aortic valve physiology Supplemental_disease_name DISEASE_NAME:abnormal_axial_skeleton_morphology_radioulnar_synostosis Abnormal axial skeleton morphology;Radioulnar synostosis Supplemental_disease_name DISEASE_NAME:abnormal_basal_ganglia_mri_signal_intensity_progressive_spastic_paraparesis_gonadal_dysgenesis_cerebellar_ataxia Abnormal basal ganglia MRI signal intensity;Progressive spastic paraparesis;Gonadal dysgenesis;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:abnormal_biliary_tract_morphology_asplenia_duodenal_atresia_reduced_number_of_intrahepatic_bile_ducts Abnormal biliary tract morphology;Asplenia;Duodenal atresia;Reduced number of intrahepatic bile ducts Supplemental_disease_name DISEASE_NAME:abnormal_bleeding Abnormal bleeding Supplemental_disease_name DISEASE_NAME:abnormal_bleeding_thrombocytopenia Abnormal bleeding;Thrombocytopenia Supplemental_disease_name DISEASE_NAME:abnormal_blistering_of_the_skin Abnormal blistering of the skin Supplemental_disease_name DISEASE_NAME:abnormal_blistering_of_the_skin_constipation_migraine_abnormal_urinary_color Abnormal blistering of the skin;Constipation;Migraine;Abnormal urinary color Supplemental_disease_name DISEASE_NAME:abnormal_blistering_of_the_skin_porphyrinuria_abdominal_colic Abnormal blistering of the skin;Porphyrinuria;Abdominal colic Supplemental_disease_name DISEASE_NAME:abnormal_brain_morphology Abnormal brain morphology Supplemental_disease_name DISEASE_NAME:abnormal_brain_morphology_intellectual_disability Abnormal brain morphology;Intellectual disability Supplemental_disease_name DISEASE_NAME:abnormal_brain_morphology_microcephaly Abnormal brain morphology;Microcephaly Supplemental_disease_name DISEASE_NAME:abnormal_brain_morphology_short_stature_microcephaly Abnormal brain morphology;Short stature;Microcephaly Supplemental_disease_name DISEASE_NAME:abnormal_brainstem_morphology_abnormal_cortical_gyration Abnormal brainstem morphology;Abnormal cortical gyration Supplemental_disease_name DISEASE_NAME:abnormal_cardiac_output Abnormal cardiac output Supplemental_disease_name DISEASE_NAME:abnormal_cardiac_test Abnormal cardiac test Supplemental_disease_name DISEASE_NAME:abnormal_cardiac_ventricular_function Abnormal cardiac ventricular function Supplemental_disease_name DISEASE_NAME:abnormal_cardiovascular_system_morphology Abnormal cardiovascular system morphology Supplemental_disease_name DISEASE_NAME:abnormal_cardiovascular_system_morphology_congenital_diaphragmatic_hernia Abnormal cardiovascular system morphology;Congenital diaphragmatic hernia Supplemental_disease_name DISEASE_NAME:abnormal_cartilage_collagen Abnormal cartilage collagen Supplemental_disease_name DISEASE_NAME:abnormal_caudate_nucleus_morphology_epileptic_encephalopathy_intellectual_disability Abnormal caudate nucleus morphology;Epileptic encephalopathy;Intellectual disability Supplemental_disease_name DISEASE_NAME:abnormal_central_motor_function Abnormal central motor function Supplemental_disease_name DISEASE_NAME:abnormal_cerebellar_vermis_morphology Abnormal cerebellar vermis morphology Supplemental_disease_name DISEASE_NAME:abnormal_cerebral_cortex_morphology_dysplastic_corpus_callosum Abnormal cerebral cortex morphology;Dysplastic corpus callosum Supplemental_disease_name DISEASE_NAME:abnormal_cerebral_morphology Abnormal cerebral morphology Supplemental_disease_name DISEASE_NAME:abnormal_cerebral_vascular_morphology Abnormal cerebral vascular morphology Supplemental_disease_name DISEASE_NAME:abnormal_cerebral_white_matter_morphology_abnormal_pyramidal_sign_congenital_sensorineural_hearing_impairment_progressive_cerebellar_ataxia_optic_neuropathy Abnormal cerebral white matter morphology;Abnormal pyramidal sign;Congenital sensorineural hearing impairment;Progressive cerebellar ataxia;Optic neuropathy Supplemental_disease_name DISEASE_NAME:abnormal_cerebral_white_matter_morphology_microcephaly Abnormal cerebral white matter morphology;Microcephaly Supplemental_disease_name DISEASE_NAME:abnormal_cerebral_white_matter_morphology_migraine_with_aura Abnormal cerebral white matter morphology;Migraine with aura Supplemental_disease_name DISEASE_NAME:abnormal_cerebral_white_matter_morphology_progressive_cerebellar_ataxia_optic_neuropathy_congenital_sensorineural_hearing_impairment_abnormal_pyramidal_sign Abnormal cerebral white matter morphology;Progressive cerebellar ataxia;Optic neuropathy;Congenital sensorineural hearing impairment;Abnormal pyramidal sign Supplemental_disease_name DISEASE_NAME:abnormal_circulating_carbohydrate_concentration Abnormal circulating carbohydrate concentration Supplemental_disease_name DISEASE_NAME:abnormal_circulating_enzyme_concentration_rhabdomyolysis Abnormal circulating enzyme concentration;Rhabdomyolysis Supplemental_disease_name DISEASE_NAME:abnormal_circulating_immunoglobulin_concentration Abnormal circulating immunoglobulin concentration Supplemental_disease_name DISEASE_NAME:abnormal_circulating_lactate_dehydrogenase_concentration Abnormal circulating lactate dehydrogenase concentration Supplemental_disease_name DISEASE_NAME:abnormal_circulating_lipid_concentration Abnormal circulating lipid concentration Supplemental_disease_name DISEASE_NAME:abnormal_circulating_porphyrin_concentration Abnormal circulating porphyrin concentration Supplemental_disease_name DISEASE_NAME:abnormal_cns_myelination_microcephaly_encephalopathy Abnormal CNS myelination;Microcephaly;Encephalopathy Supplemental_disease_name DISEASE_NAME:abnormal_corpus_callosum_morphology Abnormal corpus callosum morphology Supplemental_disease_name DISEASE_NAME:abnormal_cortical_gyration Abnormal cortical gyration Supplemental_disease_name DISEASE_NAME:abnormal_dense_granules_abnormal_dense_granule_content Abnormal dense granules;Abnormal dense granule content Supplemental_disease_name DISEASE_NAME:abnormal_electroretinogram_nystagmus Abnormal electroretinogram;Nystagmus Supplemental_disease_name DISEASE_NAME:abnormal_esophagus_morphology Abnormal esophagus morphology Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape Abnormal facial shape Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_abnormal_cardiovascular_system_morphology_global_developmental_delay_brainstem_dysplasia Abnormal facial shape;Abnormal cardiovascular system morphology;Global developmental delay;Brainstem dysplasia Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_abnormal_glycosylation_global_developmental_delay Abnormal facial shape;Abnormal glycosylation;Global developmental delay Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_absent_speech_severe_intellectual_disability_motor_delay_poor_speech Abnormal facial shape;Absent speech;Severe intellectual disability;Motor delay;Poor speech Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_atypical_behavior Abnormal facial shape;Atypical behavior Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_brain_atrophy_global_developmental_delay Abnormal facial shape;Brain atrophy;Global developmental delay Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_fetal_growth_restriction_motor_delay_failure_to_thrive Abnormal facial shape;Fetal growth restriction;Motor delay;Failure to thrive Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_global_developmental_delay Abnormal facial shape;Global developmental delay Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_global_developmental_delay_happy_demeanor Abnormal facial shape;Global developmental delay;Happy demeanor Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_hirsutism_abnormality_of_the_skeletal_system_severe_intellectual_disability Abnormal facial shape;Hirsutism;Abnormality of the skeletal system;Severe intellectual disability Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_intellectual_disability Abnormal facial shape;Intellectual disability Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_intellectual_disability_postaxial_polydactyly Abnormal facial shape;Intellectual disability;Postaxial polydactyly Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_low_set_ears_seizure_intellectual_disability Abnormal facial shape;Low-set ears;Seizure;Intellectual disability Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_neurodevelopmental_abnormality_postnatal_growth_retardation_abnormality_of_the_immune_system_abnormality_of_blood_and_blood_forming_tissues Abnormal facial shape;Neurodevelopmental abnormality;Postnatal growth retardation;Abnormality of the immune system;Abnormality of blood and blood-forming tissues Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_neurodevelopmental_delay_severe_short_stature Abnormal facial shape;Neurodevelopmental delay;Severe short stature Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_proximal_muscle_weakness_ankle_flexion_contracture_neonatal_hypotonia_bilateral_ptosis Abnormal facial shape;Proximal muscle weakness;Ankle flexion contracture;Neonatal hypotonia;Bilateral ptosis Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_seizure_short_stature_global_developmental_delay_intellectual_disability Abnormal facial shape;Seizure;Short stature;Global developmental delay;Intellectual disability Supplemental_disease_name DISEASE_NAME:abnormal_facial_shape_specific_learning_disability_atypical_behavior_abnormal_heart_morphology_intellectual_disability Abnormal facial shape;Specific learning disability;Atypical behavior;Abnormal heart morphology;Intellectual disability Supplemental_disease_name DISEASE_NAME:abnormal_fetal_cardiovascular_morphology Abnormal fetal cardiovascular morphology Supplemental_disease_name DISEASE_NAME:abnormal_finger_morphology Abnormal finger morphology Supplemental_disease_name DISEASE_NAME:abnormal_finger_morphology_coarse_facial_features_unilateral_renal_agenesis_global_developmental_delay Abnormal finger morphology;Coarse facial features;Unilateral renal agenesis;Global developmental delay Supplemental_disease_name DISEASE_NAME:abnormal_heart_morphology Abnormal heart morphology Supplemental_disease_name DISEASE_NAME:abnormal_heart_morphology_micrognathia Abnormal heart morphology;Micrognathia Supplemental_disease_name DISEASE_NAME:abnormal_heart_morphology_severe_hydrocephalus_holoprosencephaly_sequence_median_cleft_lip_and_palate Abnormal heart morphology;Severe hydrocephalus;Holoprosencephaly sequence;Median cleft lip and palate Supplemental_disease_name DISEASE_NAME:abnormal_heart_morphology_urogenital_tract_malformation_congenital_diaphragmatic_hernia Abnormal heart morphology;Urogenital tract malformation;Congenital diaphragmatic hernia Supplemental_disease_name DISEASE_NAME:abnormal_hemoglobin Abnormal hemoglobin Supplemental_disease_name DISEASE_NAME:abnormal_hemoglobin_persistence_of_hemoglobin_f_reduced_beta_alpha_synthesis_ratio_anemia Abnormal hemoglobin;Persistence of hemoglobin F;Reduced beta/alpha synthesis ratio;Anemia Supplemental_disease_name DISEASE_NAME:abnormal_intrahepatic_bile_duct_morphology Abnormal intrahepatic bile duct morphology Supplemental_disease_name DISEASE_NAME:abnormal_lung_growth_pulmonary_hypertension_microcephaly_and_spasticity Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity Supplemental_disease_name DISEASE_NAME:abnormal_lymph_node_morphology_cervical_lymphadenopathy_increased_nuchal_translucency Abnormal lymph node morphology;Cervical lymphadenopathy;Increased nuchal translucency Supplemental_disease_name DISEASE_NAME:abnormal_macular_morphology_peripheral_neuropathy Abnormal macular morphology;Peripheral neuropathy Supplemental_disease_name DISEASE_NAME:abnormal_macular_morphology_pigmentary_retinopathy_retinal_pigment_epithelial_atrophy_rod_cone_dystrophy_blindness Abnormal macular morphology;Pigmentary retinopathy;Retinal pigment epithelial atrophy;Rod-cone dystrophy;Blindness Supplemental_disease_name DISEASE_NAME:abnormal_meiosis_female_infertility Abnormal meiosis;Female infertility Supplemental_disease_name DISEASE_NAME:abnormal_mitral_valve_physiology Abnormal mitral valve physiology Supplemental_disease_name DISEASE_NAME:abnormal_muscle_tone_seizure_abnormal_basal_ganglia_morphology_hypoplasia_of_the_corpus_callosum_dyspnea Abnormal muscle tone;Seizure;Abnormal basal ganglia morphology;Hypoplasia of the corpus callosum;Dyspnea Supplemental_disease_name DISEASE_NAME:abnormal_optic_chiasm_morphology_transverse_facial_cleft_abnormality_of_the_head_corpus_callosum_agenesis_of Abnormal optic chiasm morphology;Transverse facial cleft;Abnormality of the head;Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:abnormal_optic_nerve_morphology Abnormal optic nerve morphology Supplemental_disease_name DISEASE_NAME:abnormal_palate_morphology_proportionate_tall_stature_abnormal_aortic_morphology_pectus_excavatum_long_fingers Abnormal palate morphology;Proportionate tall stature;Abnormal aortic morphology;Pectus excavatum;Long fingers Supplemental_disease_name DISEASE_NAME:abnormal_peripheral_nervous_system_morphology Abnormal peripheral nervous system morphology Supplemental_disease_name DISEASE_NAME:abnormal_pinna_morphology_mild_global_developmental_delay_chronic_constipation Abnormal pinna morphology;Mild global developmental delay;Chronic constipation Supplemental_disease_name DISEASE_NAME:abnormal_platelet_aggregation Abnormal platelet aggregation Supplemental_disease_name DISEASE_NAME:abnormal_platelet_function Abnormal platelet function Supplemental_disease_name DISEASE_NAME:abnormal_protein_o_linked_glycosylation Abnormal protein O-linked glycosylation Supplemental_disease_name DISEASE_NAME:abnormal_pulmonary_interstitial_morphology Abnormal pulmonary interstitial morphology Supplemental_disease_name DISEASE_NAME:abnormal_pulmonary_interstitial_morphology_short_telomere_length_macrocytic_anemia_premature_graying_of_hair Abnormal pulmonary interstitial morphology;Short telomere length;Macrocytic anemia;Premature graying of hair Supplemental_disease_name DISEASE_NAME:abnormal_pyramidal_sign Abnormal pyramidal sign Supplemental_disease_name DISEASE_NAME:abnormal_pyramidal_sign_dysarthria_muscle_weakness_cerebellar_ataxia Abnormal pyramidal sign;Dysarthria;Muscle weakness;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:abnormal_rectum_morphology_megacolon Abnormal rectum morphology;Megacolon Supplemental_disease_name DISEASE_NAME:abnormal_renal_morphology_severe_intrauterine_growth_retardation_pelvic_kidney Abnormal renal morphology;Severe intrauterine growth retardation;Pelvic kidney Supplemental_disease_name DISEASE_NAME:abnormal_retinal_morphology Abnormal retinal morphology Supplemental_disease_name DISEASE_NAME:abnormal_retinal_pigmentation_blurred_vision_pigmentary_retinopathy_macular_degeneration Abnormal retinal pigmentation;Blurred vision;Pigmentary retinopathy;Macular degeneration Supplemental_disease_name DISEASE_NAME:abnormal_rib_morphology_external_ophthalmoplegia_scoliosis Abnormal rib morphology;External ophthalmoplegia;Scoliosis Supplemental_disease_name DISEASE_NAME:abnormal_skeletal_morphology_global_developmental_delay_cleft_palate Abnormal skeletal morphology;Global developmental delay;Cleft palate Supplemental_disease_name DISEASE_NAME:abnormal_skin_pigmentation Abnormal skin pigmentation Supplemental_disease_name DISEASE_NAME:abnormal_sperm_tail_morphology Abnormal sperm tail morphology Supplemental_disease_name DISEASE_NAME:abnormal_spermatogenesis Abnormal spermatogenesis Supplemental_disease_name DISEASE_NAME:abnormal_synaptic_transmission Abnormal synaptic transmission Supplemental_disease_name DISEASE_NAME:abnormal_thrombosis Abnormal thrombosis Supplemental_disease_name DISEASE_NAME:abnormal_vena_cava_morphology_aortic_tortuosity_narrow_palate_bicuspid_aortic_valve Abnormal vena cava morphology;Aortic tortuosity;Narrow palate;Bicuspid aortic valve Supplemental_disease_name DISEASE_NAME:abnormality_of_acid_base_homeostasis_impaired_gluconeogenesis Abnormality of acid-base homeostasis;Impaired gluconeogenesis Supplemental_disease_name DISEASE_NAME:abnormality_of_blood_and_blood_forming_tissues Abnormality of blood and blood-forming tissues Supplemental_disease_name DISEASE_NAME:abnormality_of_brain_morphology Abnormality of brain morphology Supplemental_disease_name DISEASE_NAME:abnormality_of_coagulation Abnormality of coagulation Supplemental_disease_name DISEASE_NAME:abnormality_of_connective_tissue Abnormality of connective tissue Supplemental_disease_name DISEASE_NAME:abnormality_of_corpus_callosum Abnormality of corpus callosum Supplemental_disease_name DISEASE_NAME:abnormality_of_eye_movement Abnormality of eye movement Supplemental_disease_name DISEASE_NAME:abnormality_of_immune_system_physiology Abnormality of immune system physiology Supplemental_disease_name DISEASE_NAME:abnormality_of_iron_homeostasis Abnormality of iron homeostasis Supplemental_disease_name DISEASE_NAME:abnormality_of_metabolism_homeostasis Abnormality of metabolism/homeostasis Supplemental_disease_name DISEASE_NAME:abnormality_of_neuronal_migration Abnormality of neuronal migration Supplemental_disease_name DISEASE_NAME:abnormality_of_prenatal_development_or_birth Abnormality of prenatal development or birth Supplemental_disease_name DISEASE_NAME:abnormality_of_refraction Abnormality of refraction Supplemental_disease_name DISEASE_NAME:abnormality_of_the_cardiovascular_system Abnormality of the cardiovascular system Supplemental_disease_name DISEASE_NAME:abnormality_of_the_dentition Abnormality of the dentition Supplemental_disease_name DISEASE_NAME:abnormality_of_the_dentition_abnormal_facial_shape_short_stature_abnormality_of_the_skeletal_system Abnormality of the dentition;Abnormal facial shape;Short stature;Abnormality of the skeletal system Supplemental_disease_name DISEASE_NAME:abnormality_of_the_digestive_system Abnormality of the digestive system Supplemental_disease_name DISEASE_NAME:abnormality_of_the_eye Abnormality of the eye Supplemental_disease_name DISEASE_NAME:abnormality_of_the_eye_global_developmental_delay Abnormality of the eye;Global developmental delay Supplemental_disease_name DISEASE_NAME:abnormality_of_the_head Abnormality of the head Supplemental_disease_name DISEASE_NAME:abnormality_of_the_immune_system Abnormality of the immune system Supplemental_disease_name DISEASE_NAME:abnormality_of_the_immune_system_abnormality_of_blood_and_blood_forming_tissues_neurodevelopmental_abnormality_postnatal_growth_retardation_abnormal_facial_shape Abnormality of the immune system;Abnormality of blood and blood-forming tissues;Neurodevelopmental abnormality;Postnatal growth retardation;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:abnormality_of_the_immune_system_postnatal_growth_retardation_neurodevelopmental_abnormality_abnormal_facial_shape_abnormality_of_blood_and_blood_forming_tissues Abnormality of the immune system;Postnatal growth retardation;Neurodevelopmental abnormality;Abnormal facial shape;Abnormality of blood and blood-forming tissues Supplemental_disease_name DISEASE_NAME:abnormality_of_the_kidney_multicystic_kidney_dysplasia Abnormality of the kidney;Multicystic kidney dysplasia Supplemental_disease_name DISEASE_NAME:abnormality_of_the_liver_hypoglycemia Abnormality of the liver;Hypoglycemia Supplemental_disease_name DISEASE_NAME:abnormality_of_the_mitochondrion Abnormality of the mitochondrion Supplemental_disease_name DISEASE_NAME:abnormality_of_the_musculature Abnormality of the musculature Supplemental_disease_name DISEASE_NAME:abnormality_of_the_musculoskeletal_system Abnormality of the musculoskeletal system Supplemental_disease_name DISEASE_NAME:abnormality_of_the_nervous_system Abnormality of the nervous system Supplemental_disease_name DISEASE_NAME:abnormality_of_the_nervous_system_nystagmus Abnormality of the nervous system;Nystagmus Supplemental_disease_name DISEASE_NAME:abnormality_of_the_ovary Abnormality of the ovary Supplemental_disease_name DISEASE_NAME:abnormality_of_the_ovary_premature_ovarian_insufficiency Abnormality of the ovary;Premature ovarian insufficiency Supplemental_disease_name DISEASE_NAME:abnormality_of_the_pancreas Abnormality of the pancreas Supplemental_disease_name DISEASE_NAME:abnormality_of_the_skeletal_system Abnormality of the skeletal system Supplemental_disease_name DISEASE_NAME:abnormality_of_the_skeletal_system_abnormal_facial_shape_macrocephaly Abnormality of the skeletal system;Abnormal facial shape;Macrocephaly Supplemental_disease_name DISEASE_NAME:abnormality_of_the_skin Abnormality of the skin Supplemental_disease_name DISEASE_NAME:abnormality_of_the_upper_limb_radial_ray_deficiency Abnormality of the upper limb;Radial ray deficiency Supplemental_disease_name DISEASE_NAME:abnormality_of_the_urinary_system Abnormality of the urinary system Supplemental_disease_name DISEASE_NAME:abnormality_of_the_vertebral_column Abnormality of the vertebral column Supplemental_disease_name DISEASE_NAME:abnormality_of_the_vertebral_column_imperforate_anus_ventricular_septal_defect Abnormality of the vertebral column;Imperforate anus;Ventricular septal defect Supplemental_disease_name DISEASE_NAME:abnormality_of_the_vertebral_column_short_stature Abnormality of the vertebral column;Short stature Supplemental_disease_name DISEASE_NAME:abo_blood_group_system ABO blood group system Supplemental_disease_name DISEASE_NAME:abo_related_disorder ABO-related disorder Supplemental_disease_name DISEASE_NAME:aborted_sudden_cardiac_death Aborted sudden cardiac death Supplemental_disease_name DISEASE_NAME:abortive_cerebellar_ataxia Abortive cerebellar ataxia Supplemental_disease_name DISEASE_NAME:abortive_cerebellar_ataxia_mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type_optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_glaucoma_normal_tension_susceptibility_to_autosomal_dominant_optic_atrophy_classic_form Abortive cerebellar ataxia;Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type);Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Glaucoma, normal tension, susceptibility to;Autosomal dominant optic atrophy classic form Supplemental_disease_name DISEASE_NAME:abortive_cerebellar_ataxia_optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_autosomal_dominant_optic_atrophy_classic_form Abortive cerebellar ataxia;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Autosomal dominant optic atrophy classic form Supplemental_disease_name DISEASE_NAME:abortive_cerebellar_ataxia_optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_autosomal_dominant_optic_atrophy_classic_form_mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type Abortive cerebellar ataxia;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Autosomal dominant optic atrophy classic form;Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) Supplemental_disease_name DISEASE_NAME:abortive_cerebellar_ataxia_optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type_autosomal_dominant_optic_atrophy_classic_form Abortive cerebellar ataxia;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type);Autosomal dominant optic atrophy classic form Supplemental_disease_name DISEASE_NAME:abr_related_disorder ABR-related disorder Supplemental_disease_name DISEASE_NAME:abraxas1_related_disorder ABRAXAS1-related disorder Supplemental_disease_name DISEASE_NAME:abri_amyloidosis ABri amyloidosis Supplemental_disease_name DISEASE_NAME:abri_amyloidosis_adan_amyloidosis_retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_anomalies ABri amyloidosis;ADan amyloidosis;Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Supplemental_disease_name DISEASE_NAME:abruzzo_erickson_syndrome_cleft_palate_with_or_without_ankyloglossia_x_linked Abruzzo-Erickson syndrome;Cleft palate with or without ankyloglossia, X-linked Supplemental_disease_name DISEASE_NAME:absence_of_the_sacrum_aplasia_hypoplasia_involving_bones_of_the_lower_limbs Absence of the sacrum;Aplasia/hypoplasia involving bones of the lower limbs Supplemental_disease_name DISEASE_NAME:absence_seizure_juvenile_myoclonic_epilepsy Absence seizure;Juvenile myoclonic epilepsy Supplemental_disease_name DISEASE_NAME:absence_seizure_myoclonic_epilepsy_juvenile_susceptibility_to_1 Absence seizure;Myoclonic epilepsy, juvenile, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:absent_muscle_fiber_dysferlin_foot_dorsiflexor_weakness_peroneal_muscle_atrophy_distal_lower_limb_muscle_weakness Absent muscle fiber dysferlin;Foot dorsiflexor weakness;Peroneal muscle atrophy;Distal lower limb muscle weakness Supplemental_disease_name DISEASE_NAME:absent_or_delayed_speech_development_developmental_delay_borderline_microcephaly Absent or delayed speech development;Developmental delay;Borderline microcephaly Supplemental_disease_name DISEASE_NAME:absent_radius Absent radius Supplemental_disease_name DISEASE_NAME:absent_speech_autistic_behavior Absent speech;Autistic behavior Supplemental_disease_name DISEASE_NAME:absent_speech_seizure_irregular_respiration_severe_global_developmental_delay_developmental_regression Absent speech;Seizure;Irregular respiration;Severe global developmental delay;Developmental regression Supplemental_disease_name DISEASE_NAME:acaa1_related_disorder ACAA1-related disorder Supplemental_disease_name DISEASE_NAME:acaca_related_disorder ACACA-related disorder Supplemental_disease_name DISEASE_NAME:acacb_related_disorder ACACB-related disorder Supplemental_disease_name DISEASE_NAME:acad8_related_disorder ACAD8-related disorder Supplemental_disease_name DISEASE_NAME:acad9_related_disorder ACAD9-related disorder Supplemental_disease_name DISEASE_NAME:acadl_related_disorder ACADL-related disorder Supplemental_disease_name DISEASE_NAME:acadm_related_disorder ACADM-related disorder Supplemental_disease_name DISEASE_NAME:acads_related_disorder ACADS-related disorder Supplemental_disease_name DISEASE_NAME:acadsb_related_disorder ACADSB-related disorder Supplemental_disease_name DISEASE_NAME:acadvl_related_disorder ACADVL-related disorder Supplemental_disease_name DISEASE_NAME:acampomelic_campomelic_dysplasia_with_autosomal_sex_reversal ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL Supplemental_disease_name DISEASE_NAME:acan_related_disorder ACAN-related disorder Supplemental_disease_name DISEASE_NAME:acan_related_short_stature_spectrum ACAN-related short stature spectrum Supplemental_disease_name DISEASE_NAME:acanthocytosis Acanthocytosis Supplemental_disease_name DISEASE_NAME:acat1_related_disorder ACAT1-related disorder Supplemental_disease_name DISEASE_NAME:acatalasemia_japanese_type Acatalasemia, japanese type Supplemental_disease_name DISEASE_NAME:acbd5_related_disorder ACBD5-related disorder Supplemental_disease_name DISEASE_NAME:acbd6_related_disorder ACBD6-related disorder Supplemental_disease_name DISEASE_NAME:accelerated_tumor_formation_susceptibility_to Accelerated tumor formation, susceptibility to Supplemental_disease_name DISEASE_NAME:accelerated_tumor_formation_susceptibility_to_lessel_kubisch_syndrome Accelerated tumor formation, susceptibility to;Lessel-kubisch syndrome Supplemental_disease_name DISEASE_NAME:acces_syndrome ACCES syndrome Supplemental_disease_name DISEASE_NAME:accessory_ectopic_thyroid_tissue Accessory ectopic thyroid tissue Supplemental_disease_name DISEASE_NAME:acd_related_disorder ACD-related disorder Supplemental_disease_name DISEASE_NAME:acd_related_short_telomere_syndrome ACD-related short telomere syndrome Supplemental_disease_name DISEASE_NAME:ace_insertion_deletion_polymorphism ACE INSERTION/DELETION POLYMORPHISM Supplemental_disease_name DISEASE_NAME:ace_related_disorder ACE-related disorder Supplemental_disease_name DISEASE_NAME:acenocoumarol_response_dosage acenocoumarol response - Dosage Supplemental_disease_name DISEASE_NAME:acer3_related_disorder ACER3-related disorder Supplemental_disease_name DISEASE_NAME:acetabular_dysplasia Acetabular dysplasia Supplemental_disease_name DISEASE_NAME:acetazolamide_responsive_myotonia Acetazolamide-responsive myotonia Supplemental_disease_name DISEASE_NAME:acetyl_coa_acetyltransferase_2_deficiency Acetyl-CoA acetyltransferase-2 deficiency Supplemental_disease_name DISEASE_NAME:acetyl_coa_carboxylase_deficiency Acetyl-CoA: carboxylase deficiency Supplemental_disease_name DISEASE_NAME:achalasia_addisonianism_alacrima_syndrome Achalasia-addisonianism-alacrima syndrome Supplemental_disease_name DISEASE_NAME:achalasia_alacrima_syndrome Achalasia-alacrima syndrome Supplemental_disease_name DISEASE_NAME:achalasia_progeroid_syndrome Achalasia-progeroid syndrome Supplemental_disease_name DISEASE_NAME:ache_related_disorder ACHE-related disorder Supplemental_disease_name DISEASE_NAME:acheiropodia_triphalangeal_thumb_polysyndactyly_syndrome_laurin_sandrow_syndrome_syndactyly_type_4 Acheiropodia;Triphalangeal thumb-polysyndactyly syndrome;Laurin-Sandrow syndrome;Syndactyly type 4 Supplemental_disease_name DISEASE_NAME:acheiropodia_triphalangeal_thumb_polysyndactyly_syndrome_syndactyly_type_4_laurin_sandrow_syndrome Acheiropodia;Triphalangeal thumb-polysyndactyly syndrome;Syndactyly type 4;Laurin-Sandrow syndrome Supplemental_disease_name DISEASE_NAME:achilles_tendon_contracture_polycystic_kidney_disease_elevated_circulating_creatine_kinase_activity_lower_limb_amyotrophy_lower_limb_muscle_weakness Achilles tendon contracture;Polycystic kidney disease;Elevated circulating creatine kinase activity;Lower limb amyotrophy;Lower limb muscle weakness Supplemental_disease_name DISEASE_NAME:achondrogenesis_type_ia_odontochondrodysplasia_1 Achondrogenesis, type IA;Odontochondrodysplasia 1 Supplemental_disease_name DISEASE_NAME:achondrogenesis_type_ib_atelosteogenesis_type_ii_diastrophic_dysplasia_multiple_epiphyseal_dysplasia_type_4 Achondrogenesis, type IB;Atelosteogenesis type II;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4 Supplemental_disease_name DISEASE_NAME:achondrogenesis_type_ib_atelosteogenesis_type_ii_multiple_epiphyseal_dysplasia_type_4_diastrophic_dysplasia Achondrogenesis, type IB;Atelosteogenesis type II;Multiple epiphyseal dysplasia type 4;Diastrophic dysplasia Supplemental_disease_name DISEASE_NAME:achondrogenesis_type_ib_diastrophic_dysplasia_atelosteogenesis_type_ii_multiple_epiphyseal_dysplasia_type_4 Achondrogenesis, type IB;Diastrophic dysplasia;Atelosteogenesis type II;Multiple epiphyseal dysplasia type 4 Supplemental_disease_name DISEASE_NAME:achondrogenesis_type_ib_diastrophic_dysplasia_multiple_epiphyseal_dysplasia_type_4_atelosteogenesis_type_ii Achondrogenesis, type IB;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II Supplemental_disease_name DISEASE_NAME:achondrogenesis_type_ib_multiple_epiphyseal_dysplasia_type_4_atelosteogenesis_type_ii_diastrophic_dysplasia Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II;Diastrophic dysplasia Supplemental_disease_name DISEASE_NAME:achondrogenesis_type_ib_multiple_epiphyseal_dysplasia_type_4_diastrophic_dysplasia_atelosteogenesis_type_ii Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4;Diastrophic dysplasia;Atelosteogenesis type II Supplemental_disease_name DISEASE_NAME:achondroplasia_hypochondroplasia Achondroplasia;Hypochondroplasia Supplemental_disease_name DISEASE_NAME:achondroplasia_levy_hollister_syndrome_camptodactyly_tall_stature_scoliosis_hearing_loss_syndrome_crouzon_syndrome_acanthosis_nigricans_syndrome_hypochondroplasia Achondroplasia;Levy-Hollister syndrome;Camptodactyly-tall stature-scoliosis-hearing loss syndrome;Crouzon syndrome-acanthosis nigricans syndrome;Hypochondroplasia Supplemental_disease_name DISEASE_NAME:achromatopsia_3_retinitis_pigmentosa_severe_early_childhood_onset_retinal_dystrophy Achromatopsia 3;Retinitis pigmentosa;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:achromatopsia_3_severe_early_childhood_onset_retinal_dystrophy Achromatopsia 3;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:achromatopsia_5 Achromatopsia 5 Supplemental_disease_name DISEASE_NAME:achromatopsia_cone_dystrophy_4 Achromatopsia;Cone dystrophy 4 Supplemental_disease_name DISEASE_NAME:acid_alpha_glucosidase_allele_2 Acid alpha-glucosidase, allele 2 Supplemental_disease_name DISEASE_NAME:acid_alpha_glucosidase_allele_4 Acid alpha-glucosidase, allele 4 Supplemental_disease_name DISEASE_NAME:acid_labile_subunit_deficiency Acid-labile subunit deficiency Supplemental_disease_name DISEASE_NAME:acid_sphingomyelinase_deficiency Acid sphingomyelinase deficiency Supplemental_disease_name DISEASE_NAME:ackr1_related_disorder ACKR1-related disorder Supplemental_disease_name DISEASE_NAME:acmsd_related_disorder ACMSD-related disorder Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_1 Acne inversa, familial, 1 Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_2 Acne inversa, familial, 2 Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_3 Acne inversa, familial, 3 Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_3_alzheimer_disease_3_frontotemporal_dementia_pick_disease Acne inversa, familial, 3;Alzheimer disease 3;Frontotemporal dementia;Pick disease Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_3_alzheimer_disease_3_pick_disease_frontotemporal_dementia Acne inversa, familial, 3;Alzheimer disease 3;Pick disease;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_3_dilated_cardiomyopathy_1u_alzheimer_disease_3_frontotemporal_dementia_pick_disease Acne inversa, familial, 3;Dilated cardiomyopathy 1U;Alzheimer disease 3;Frontotemporal dementia;Pick disease Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_3_frontotemporal_dementia_alzheimer_disease_3_pick_disease Acne inversa, familial, 3;Frontotemporal dementia;Alzheimer disease 3;Pick disease Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_3_frontotemporal_dementia_pick_disease_alzheimer_disease_3 Acne inversa, familial, 3;Frontotemporal dementia;Pick disease;Alzheimer disease 3 Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_3_pick_disease_frontotemporal_dementia_alzheimer_disease_3 Acne inversa, familial, 3;Pick disease;Frontotemporal dementia;Alzheimer disease 3 Supplemental_disease_name DISEASE_NAME:aco2_related_disorder ACO2-related disorder Supplemental_disease_name DISEASE_NAME:acorea_microphthalmia_and_cataract_syndrome acorea,microphthalmia and cataract syndrome Supplemental_disease_name DISEASE_NAME:acorea_microphthalmia_cataract_syndrome acorea-microphthalmia-cataract syndrome Supplemental_disease_name DISEASE_NAME:acot7_related_disorder ACOT7-related disorder Supplemental_disease_name DISEASE_NAME:acox1_related_disorder ACOX1-related disorder Supplemental_disease_name DISEASE_NAME:acox2_related_disorder ACOX2-related disorder Supplemental_disease_name DISEASE_NAME:acp1_a_b_polymorphism ACP1 A/B POLYMORPHISM Supplemental_disease_name DISEASE_NAME:acp4_related_disorder ACP4-related disorder Supplemental_disease_name DISEASE_NAME:acp5_related_disorder ACP5-related disorder Supplemental_disease_name DISEASE_NAME:acquired_hemoglobin_h_disease_alpha_thalassemia_x_linked_intellectual_disability_syndrome_intellectual_disability_hypotonic_facies_syndrome_x_linked_1 Acquired hemoglobin H disease;Alpha thalassemia-X-linked intellectual disability syndrome;Intellectual disability-hypotonic facies syndrome, X-linked, 1 Supplemental_disease_name DISEASE_NAME:acquired_hemoglobin_h_disease_intellectual_disability_hypotonic_facies_syndrome_x_linked_1_alpha_thalassemia_x_linked_intellectual_disability_syndrome Acquired hemoglobin H disease;Intellectual disability-hypotonic facies syndrome, X-linked, 1;Alpha thalassemia-X-linked intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:acquired_immunodeficiency_syndrome_delayed_progression_to Acquired immunodeficiency syndrome, delayed progression to Supplemental_disease_name DISEASE_NAME:acquired_immunodeficiency_syndrome_rapid_progression_to Acquired immunodeficiency syndrome, rapid progression to Supplemental_disease_name DISEASE_NAME:acquired_long_qt_syndrome Acquired long QT syndrome Supplemental_disease_name DISEASE_NAME:acquired_partial_lipodystrophy Acquired partial lipodystrophy Supplemental_disease_name DISEASE_NAME:acquired_polycythemia_vera Acquired polycythemia vera Supplemental_disease_name DISEASE_NAME:acquired_polycythemia_vera_endometrial_serous_adenocarcinoma Acquired polycythemia vera;Endometrial serous adenocarcinoma Supplemental_disease_name DISEASE_NAME:acquired_polycythemia_vera_primary_myelofibrosis_thrombocythemia_3_budd_chiari_syndrome Acquired polycythemia vera;Primary myelofibrosis;Thrombocythemia 3;Budd-Chiari syndrome Supplemental_disease_name DISEASE_NAME:acquired_susceptibility_to_long_qt_syndrome_1 Acquired susceptibility to long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:acrocallosal_syndrome_hydrolethalus_syndrome_2_multiple_epiphyseal_dysplasia_al_gazali_type Acrocallosal syndrome;Hydrolethalus syndrome 2;Multiple epiphyseal dysplasia, Al-Gazali type Supplemental_disease_name DISEASE_NAME:acrocallosal_syndrome_multiple_epiphyseal_dysplasia_al_gazali_type_hydrolethalus_syndrome_2 Acrocallosal syndrome;Multiple epiphyseal dysplasia, Al-Gazali type;Hydrolethalus syndrome 2 Supplemental_disease_name DISEASE_NAME:acrocapitofemoral_dysplasia_brachydactyly_type_a1 Acrocapitofemoral dysplasia;Brachydactyly type A1 Supplemental_disease_name DISEASE_NAME:acrocephalosyndactyly_type_i Acrocephalosyndactyly type I Supplemental_disease_name DISEASE_NAME:acrocephalosyndactyly_type_i_crouzon_syndrome_pfeiffer_syndrome Acrocephalosyndactyly type I;Crouzon syndrome;Pfeiffer syndrome Supplemental_disease_name DISEASE_NAME:acrodermatitis_continua_suppurativa_of_hallopeau Acrodermatitis continua suppurativa of Hallopeau Supplemental_disease_name DISEASE_NAME:acrodysostosis_1_with_or_without_hormone_resistance Acrodysostosis 1 with or without hormone resistance Supplemental_disease_name DISEASE_NAME:acrodysostosis_1_with_or_without_hormone_resistance_familial_atrial_myxoma_pigmented_nodular_adrenocortical_disease_primary_1_carney_complex_type_1 Acrodysostosis 1 with or without hormone resistance;Familial atrial myxoma;Pigmented nodular adrenocortical disease, primary, 1;Carney complex, type 1 Supplemental_disease_name DISEASE_NAME:acrodysostosis_2_with_or_without_hormone_resistance Acrodysostosis 2 with or without hormone resistance Supplemental_disease_name DISEASE_NAME:acroerythrokeratoderma Acroerythrokeratoderma Supplemental_disease_name DISEASE_NAME:acrofacial_dysostosis_cincinnati_type_leukodystrophy_hypomyelinating_27 Acrofacial dysostosis Cincinnati type;Leukodystrophy, hypomyelinating, 27 Supplemental_disease_name DISEASE_NAME:acrofrontofacionasal_dysostosis_3 ACROFRONTOFACIONASAL DYSOSTOSIS 3 Supplemental_disease_name DISEASE_NAME:acrokeratosis_verruciformis_of_hopf_keratosis_follicularis Acrokeratosis verruciformis of Hopf;Keratosis follicularis Supplemental_disease_name DISEASE_NAME:acroleukopathy_symmetric_somatotroph_adenoma_pituitary_dependent_hypercortisolism Acroleukopathy, symmetric;Somatotroph adenoma;Pituitary dependent hypercortisolism Supplemental_disease_name DISEASE_NAME:acromelic_frontonasal_dysostosis_neurodevelopmental_disorder_with_movement_abnormalities_abnormal_gait_and_autistic_features Acromelic frontonasal dysostosis;Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_1_maroteaux_type Acromesomelic dysplasia 1, Maroteaux type Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_1_maroteaux_type_short_stature_with_nonspecific_skeletal_abnormalities_1_tall_stature_scoliosis_macrodactyly_of_the_great_toes_syndrome Acromesomelic dysplasia 1, Maroteaux type;Short stature with nonspecific skeletal abnormalities 1;Tall stature-scoliosis-macrodactyly of the great toes syndrome Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_1_maroteaux_type_short_stature_with_nonspecific_skeletal_abnormalities_tall_stature_scoliosis_macrodactyly_of_the_great_toes_syndrome Acromesomelic dysplasia 1, Maroteaux type;Short stature with nonspecific skeletal abnormalities;Tall stature-scoliosis-macrodactyly of the great toes syndrome Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_1_maroteaux_type_tall_stature_scoliosis_macrodactyly_of_the_great_toes_syndrome Acromesomelic dysplasia 1, Maroteaux type;Tall stature-scoliosis-macrodactyly of the great toes syndrome Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_1_maroteaux_type_tall_stature_scoliosis_macrodactyly_of_the_great_toes_syndrome_short_stature_with_nonspecific_skeletal_abnormalities_1 Acromesomelic dysplasia 1, Maroteaux type;Tall stature-scoliosis-macrodactyly of the great toes syndrome;Short stature with nonspecific skeletal abnormalities 1 Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_2b_brachydactyly_type_a1d_type_a2_brachydactyly_acromesomelic_dysplasia_3 Acromesomelic dysplasia 2B;Brachydactyly type A1D;Type A2 brachydactyly;Acromesomelic dysplasia 3 Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_2b_oligosynaptic_infertility Acromesomelic dysplasia 2B;Oligosynaptic infertility Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_2c_hunter_thompson_type Acromesomelic dysplasia 2C, Hunter-Thompson type Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_3_type_a2_brachydactyly Acromesomelic dysplasia 3;Type A2 brachydactyly Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_3_type_a2_brachydactyly_brachydactyly_type_a1d Acromesomelic dysplasia 3;Type A2 brachydactyly;Brachydactyly type A1D Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_4_spondylometaphyseal_dysplasia_pagnamenta_type Acromesomelic dysplasia 4;Spondylometaphyseal dysplasia, pagnamenta type Supplemental_disease_name DISEASE_NAME:acromicric_dysplasia_geleophysic_dysplasia_2 Acromicric dysplasia;Geleophysic dysplasia 2 Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome Acroosteolysis-keloid-like lesions-premature aging syndrome Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome_basal_ganglia_calcification_idiopathic_4_infantile_myofibromatosis_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome Acroosteolysis-keloid-like lesions-premature aging syndrome;Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome_basal_ganglia_calcification_idiopathic_4_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_infantile_myofibromatosis Acroosteolysis-keloid-like lesions-premature aging syndrome;Basal ganglia calcification, idiopathic, 4;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Infantile myofibromatosis Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome_basal_ganglia_calcification_idiopathic_4_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_myofibromatosis_infantile_1_myeloproliferative_disorder_chronic_with_eosinophilia Acroosteolysis-keloid-like lesions-premature aging syndrome;Basal ganglia calcification, idiopathic, 4;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Myofibromatosis, infantile, 1;Myeloproliferative disorder, chronic, with eosinophilia Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome_infantile_myofibromatosis_basal_ganglia_calcification_idiopathic_4_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome Acroosteolysis-keloid-like lesions-premature aging syndrome;Infantile myofibromatosis;Basal ganglia calcification, idiopathic, 4;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome_infantile_myofibromatosis_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_basal_ganglia_calcification_idiopathic_4 Acroosteolysis-keloid-like lesions-premature aging syndrome;Infantile myofibromatosis;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Basal ganglia calcification, idiopathic, 4 Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_basal_ganglia_calcification_idiopathic_4_infantile_myofibromatosis Acroosteolysis-keloid-like lesions-premature aging syndrome;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_basal_ganglia_calcification_idiopathic_4_myofibromatosis_infantile_1 Acroosteolysis-keloid-like lesions-premature aging syndrome;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Basal ganglia calcification, idiopathic, 4;Myofibromatosis, infantile, 1 Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_infantile_myofibromatosis_basal_ganglia_calcification_idiopathic_4 Acroosteolysis-keloid-like lesions-premature aging syndrome;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Infantile myofibromatosis;Basal ganglia calcification, idiopathic, 4 Supplemental_disease_name DISEASE_NAME:acsf3_related_disorder ACSF3-related disorder Supplemental_disease_name DISEASE_NAME:acsl4_related_disorder ACSL4-related disorder Supplemental_disease_name DISEASE_NAME:acsl6_related_disorder ACSL6-related disorder Supplemental_disease_name DISEASE_NAME:acss2_related_disorder ACSS2-related disorder Supplemental_disease_name DISEASE_NAME:acta1_gene_related_myopathy_actin_accumulation_myopathy ACTA1 gene related myopathy;Actin accumulation myopathy Supplemental_disease_name DISEASE_NAME:acta1_related_congenital_myopathy_disorders ACTA1-related congenital myopathy disorders Supplemental_disease_name DISEASE_NAME:acta1_related_disorder ACTA1-related disorder Supplemental_disease_name DISEASE_NAME:acta1_related_myopathies ACTA1-related myopathies Supplemental_disease_name DISEASE_NAME:acta2_related_disorder ACTA2-related disorder Supplemental_disease_name DISEASE_NAME:actb_associated_syndromic_thrombocytopenia ACTB-associated syndromic thrombocytopenia Supplemental_disease_name DISEASE_NAME:actb_haploinsufficiency_syndrome ACTB Haploinsufficiency syndrome Supplemental_disease_name DISEASE_NAME:actb_related_bafopathy ACTB-related BAFopathy Supplemental_disease_name DISEASE_NAME:actb_related_disorder ACTB-related disorder Supplemental_disease_name DISEASE_NAME:actc1_related_disorder ACTC1-related disorder Supplemental_disease_name DISEASE_NAME:actg1_related_disorder ACTG1-related disorder Supplemental_disease_name DISEASE_NAME:actg2_related_disorder ACTG2-related disorder Supplemental_disease_name DISEASE_NAME:acth_independent_adrenal_cushing_syndrome_somatic ACTH-independent adrenal Cushing syndrome, somatic Supplemental_disease_name DISEASE_NAME:acth_independent_macronodular_adrenal_hyperplasia_3 ACTH-independent macronodular adrenal hyperplasia 3 Supplemental_disease_name DISEASE_NAME:actin_accumulation_myopathy Actin accumulation myopathy Supplemental_disease_name DISEASE_NAME:actin_accumulation_myopathy_congenital_myopathy_2c_severe_infantile_autosomal_dominant Actin accumulation myopathy;Congenital myopathy 2c, severe infantile, autosomal dominant Supplemental_disease_name DISEASE_NAME:actin_accumulation_myopathy_congenital_myopathy_4a_autosomal_dominant_progressive_scapulohumeroperoneal_distal_myopathy Actin accumulation myopathy;Congenital myopathy 4A, autosomal dominant;Progressive scapulohumeroperoneal distal myopathy Supplemental_disease_name DISEASE_NAME:actin_accumulation_myopathy_progressive_scapulohumeroperoneal_distal_myopathy_congenital_myopathy_2c_severe_infantile_autosomal_dominant Actin accumulation myopathy;Progressive scapulohumeroperoneal distal myopathy;Congenital myopathy 2c, severe infantile, autosomal dominant Supplemental_disease_name DISEASE_NAME:actin_accumulation_myopathy_progressive_scapulohumeroperoneal_distal_myopathy_congenital_myopathy_with_fiber_type_disproportion Actin accumulation myopathy;Progressive scapulohumeroperoneal distal myopathy;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:actinin_alpha_3_polymorphism ACTININ, ALPHA-3 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:actl6a_related_bafopathy ACTL6A-related BAFopathy Supplemental_disease_name DISEASE_NAME:actl6a_related_disorder ACTL6A-related disorder Supplemental_disease_name DISEASE_NAME:actl6a_related_intellectual_disability_autosomal_dominant ACTL6A-related intellectual disability, autosomal dominant Supplemental_disease_name DISEASE_NAME:actl6b_related_bafopathy ACTL6B-related BAFopathy Supplemental_disease_name DISEASE_NAME:actl6b_related_disorder ACTL6B-related disorder Supplemental_disease_name DISEASE_NAME:actl6b_related_neurodevelopmental_disorder ACTL6B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:actl6b_related_recessive_epilepsy ACTL6B-related recessive epilepsy Supplemental_disease_name DISEASE_NAME:actl9_related_disorder ACTL9-related disorder Supplemental_disease_name DISEASE_NAME:actn1_related_disorder ACTN1-related disorder Supplemental_disease_name DISEASE_NAME:actn2_related_cardiac_and_skeletal_myopathy ACTN2-related cardiac and skeletal myopathy Supplemental_disease_name DISEASE_NAME:actn2_related_disorder ACTN2-related disorder Supplemental_disease_name DISEASE_NAME:actn3_deficiency Actn3 deficiency Supplemental_disease_name DISEASE_NAME:actn3_related_disorder ACTN3-related disorder Supplemental_disease_name DISEASE_NAME:actn4_related_disorder ACTN4-related disorder Supplemental_disease_name DISEASE_NAME:actrt1_related_disorder ACTRT1-related disorder Supplemental_disease_name DISEASE_NAME:aculeiform_cataract Aculeiform cataract Supplemental_disease_name DISEASE_NAME:acute_aortic_dissection_congenital_aneurysm_of_ascending_aorta Acute aortic dissection;Congenital aneurysm of ascending aorta Supplemental_disease_name DISEASE_NAME:acute_b_cell_lymphoblastic_leukemia Acute B-cell lymphoblastic leukemia Supplemental_disease_name DISEASE_NAME:acute_coronary_syndrome Acute coronary syndrome Supplemental_disease_name DISEASE_NAME:acute_episodes_of_neuropathic_symptoms_abnormality_of_pain_sensation Acute episodes of neuropathic symptoms;Abnormality of pain sensation Supplemental_disease_name DISEASE_NAME:acute_febrile_neutrophilic_dermatosis_familial_mediterranean_fever_autosomal_dominant_familial_mediterranean_fever Acute febrile neutrophilic dermatosis;Familial Mediterranean fever, autosomal dominant;Familial Mediterranean fever Supplemental_disease_name DISEASE_NAME:acute_febrile_neutrophilic_dermatosis_familial_mediterranean_fever_familial_mediterranean_fever_autosomal_dominant Acute febrile neutrophilic dermatosis;Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant Supplemental_disease_name DISEASE_NAME:acute_infantile_liver_failure Acute infantile liver failure Supplemental_disease_name DISEASE_NAME:acute_infantile_liver_failure_due_to_synthesis_defect_of_mtdna_encoded_proteins Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Supplemental_disease_name DISEASE_NAME:acute_infantile_liver_failure_due_to_synthesis_defect_of_mtdna_encoded_proteins_aminoglycoside_induced_deafness Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins;Aminoglycoside-induced deafness Supplemental_disease_name DISEASE_NAME:acute_intermittent_porphyria_encephalopathy_porphyria_related_leukoencephalopathy_porphyria_related Acute intermittent porphyria;Encephalopathy, porphyria-related;Leukoencephalopathy, porphyria-related Supplemental_disease_name DISEASE_NAME:acute_intermittent_porphyria_leukoencephalopathy_porphyria_related Acute intermittent porphyria;Leukoencephalopathy, porphyria-related Supplemental_disease_name DISEASE_NAME:acute_intermittent_porphyria_leukoencephalopathy_porphyria_related_encephalopathy_porphyria_related Acute intermittent porphyria;Leukoencephalopathy, porphyria-related;Encephalopathy, porphyria-related Supplemental_disease_name DISEASE_NAME:acute_kidney_injury Acute kidney injury Supplemental_disease_name DISEASE_NAME:acute_leukemia_of_ambiguous_lineage Acute leukemia of ambiguous lineage Supplemental_disease_name DISEASE_NAME:acute_liver_failure Acute liver failure Supplemental_disease_name DISEASE_NAME:acute_liver_injury Acute liver injury Supplemental_disease_name DISEASE_NAME:acute_lymphocytic_leukemia Acute lymphocytic leukemia Supplemental_disease_name DISEASE_NAME:acute_lymphoid_leukemia Acute lymphoid leukemia Supplemental_disease_name DISEASE_NAME:acute_lymphoid_leukemia_aplastic_anemia_microcephaly_normal_intelligence_and_immunodeficiency Acute lymphoid leukemia;Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency Supplemental_disease_name DISEASE_NAME:acute_lymphoid_leukemia_chronic_myeloid_leukemia Acute lymphoid leukemia;Chronic myeloid leukemia Supplemental_disease_name DISEASE_NAME:acute_lymphoid_leukemia_microcephaly_normal_intelligence_and_immunodeficiency_aplastic_anemia Acute lymphoid leukemia;Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia Supplemental_disease_name DISEASE_NAME:acute_lymphoid_leukemia_thrombocytopenia Acute lymphoid leukemia;Thrombocytopenia Supplemental_disease_name DISEASE_NAME:acute_megakaryoblastic_leukemia Acute megakaryoblastic leukemia Supplemental_disease_name DISEASE_NAME:acute_megakaryoblastic_leukemia_in_down_syndrome Acute megakaryoblastic leukemia in down syndrome Supplemental_disease_name DISEASE_NAME:acute_megakaryoblastic_leukemia_without_down_syndrome Acute megakaryoblastic leukemia without down syndrome Supplemental_disease_name DISEASE_NAME:acute_monoblastic_leukemia_acute_monocytic_leukemia Acute monoblastic leukemia;Acute monocytic leukemia Supplemental_disease_name DISEASE_NAME:acute_myeloblastic_leukemia_with_maturation Acute myeloblastic leukemia with maturation Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_acute_myelogenous_leukemia Acute myeloid leukemia/acute myelogenous leukemia Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_autoimmune_lymphoproliferative_syndrome_type_4_cardiofaciocutaneous_syndrome_2_noonan_syndrome_3 Acute myeloid leukemia;Autoimmune lymphoproliferative syndrome type 4;Cardiofaciocutaneous syndrome 2;Noonan syndrome 3 Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_cutaneous_mastocytosis_gastrointestinal_stromal_tumor_germ_cell_tumor_of_testis_piebaldism Acute myeloid leukemia;Cutaneous mastocytosis;Gastrointestinal stromal tumor;Germ cell tumor of testis;Piebaldism Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_cutaneous_mastocytosis_piebaldism_gastrointestinal_stromal_tumor_germ_cell_tumor_of_testis Acute myeloid leukemia;Cutaneous mastocytosis;Piebaldism;Gastrointestinal stromal tumor;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_deafness_lymphedema_leukemia_syndrome_monocytopenia_with_susceptibility_to_infections_myelodysplastic_syndrome Acute myeloid leukemia;Deafness-lymphedema-leukemia syndrome;Monocytopenia with susceptibility to infections;Myelodysplastic syndrome Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_dyskeratosis_congenita_autosomal_dominant_2_melanoma_cutaneous_malignant_susceptibility_to_9_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1 Acute myeloid leukemia;Dyskeratosis congenita, autosomal dominant 2;Melanoma, cutaneous malignant, susceptibility to, 9;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_dyskeratosis_congenita_autosomal_dominant_2_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_melanoma_cutaneous_malignant_susceptibility_to_9 Acute myeloid leukemia;Dyskeratosis congenita, autosomal dominant 2;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Melanoma, cutaneous malignant, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_gastrointestinal_stromal_tumor_germ_cell_tumor_of_testis_cutaneous_mastocytosis_piebaldism Acute myeloid leukemia;Gastrointestinal stromal tumor;Germ cell tumor of testis;Cutaneous mastocytosis;Piebaldism Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_runx1 Acute myeloid leukemia;Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_heyn_sproul_jackson_syndrome_tatton_brown_rahman_overgrowth_syndrome Acute myeloid leukemia;Heyn-Sproul-Jackson syndrome;Tatton-Brown-Rahman overgrowth syndrome Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_melanoma_cutaneous_malignant_susceptibility_to_9_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_dyskeratosis_congenita_autosomal_dominant_2 Acute myeloid leukemia;Melanoma, cutaneous malignant, susceptibility to, 9;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_monocytopenia_with_susceptibility_to_infections_myelodysplastic_syndrome_deafness_lymphedema_leukemia_syndrome Acute myeloid leukemia;Monocytopenia with susceptibility to infections;Myelodysplastic syndrome;Deafness-lymphedema-leukemia syndrome Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_myelodysplastic_syndrome_deafness_lymphedema_leukemia_syndrome_monocytopenia_with_susceptibility_to_infections Acute myeloid leukemia;Myelodysplastic syndrome;Deafness-lymphedema-leukemia syndrome;Monocytopenia with susceptibility to infections Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_myelodysplastic_syndrome_monocytopenia_with_susceptibility_to_infections_deafness_lymphedema_leukemia_syndrome Acute myeloid leukemia;Myelodysplastic syndrome;Monocytopenia with susceptibility to infections;Deafness-lymphedema-leukemia syndrome Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_melanoma_cutaneous_malignant_susceptibility_to_9_dyskeratosis_congenita_autosomal_dominant_2 Acute myeloid leukemia;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Melanoma, cutaneous malignant, susceptibility to, 9;Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_sotos_syndrome Acute myeloid leukemia;Sotos syndrome Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_tatton_brown_rahman_overgrowth_syndrome Acute myeloid leukemia;Tatton-Brown-Rahman overgrowth syndrome Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_tatton_brown_rahman_overgrowth_syndrome_heyn_sproul_jackson_syndrome Acute myeloid leukemia;Tatton-Brown-Rahman overgrowth syndrome;Heyn-Sproul-Jackson syndrome Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_thrombocytopenia_5 Acute myeloid leukemia;Thrombocytopenia 5 Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_with_multilineage_dysplasia Acute myeloid leukemia with multilineage dysplasia Supplemental_disease_name DISEASE_NAME:acute_myeloid_leukemia_with_npm1_somatic_mutations Acute myeloid leukemia with NPM1 somatic mutations Supplemental_disease_name DISEASE_NAME:acute_myocardial_infarction_myocarditis Acute myocardial infarction;Myocarditis Supplemental_disease_name DISEASE_NAME:acute_refractory_chorea Acute refractory chorea Supplemental_disease_name DISEASE_NAME:acute_rhabdomyolysis Acute rhabdomyolysis Supplemental_disease_name DISEASE_NAME:acute_rhabdomyolysis_seizure_cardiac_arrhythmia_intellectual_disability_episodic_flaccid_weakness Acute rhabdomyolysis;Seizure;Cardiac arrhythmia;Intellectual disability;Episodic flaccid weakness Supplemental_disease_name DISEASE_NAME:acvr1_related_disorder ACVR1-related disorder Supplemental_disease_name DISEASE_NAME:acvr1c_related_disorder ACVR1C-related disorder Supplemental_disease_name DISEASE_NAME:acvr2b_related_disorder ACVR2B-related disorder Supplemental_disease_name DISEASE_NAME:acvrl1_related_disorder ACVRL1-related disorder Supplemental_disease_name DISEASE_NAME:acy1_related_disorder ACY1-related disorder Supplemental_disease_name DISEASE_NAME:acyl_coa_dehydrogenase_deficiency_glutaric_acidemia_type_ii Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II Supplemental_disease_name DISEASE_NAME:acyl_coa_dehydrogenase_medium_chain_deficiency Acyl-CoA dehydrogenase medium-chain deficiency Supplemental_disease_name DISEASE_NAME:acyl_coa_dehydrogenase_very_long_chain_deficiency Acyl-CoA dehydrogenase very long-chain deficiency Supplemental_disease_name DISEASE_NAME:acyl_coa_oxidase_deficiency Acyl-CoA oxidase deficiency Supplemental_disease_name DISEASE_NAME:acyl_coa_oxidase_deficiency_mitchell_syndrome Acyl-CoA oxidase deficiency;Mitchell syndrome Supplemental_disease_name DISEASE_NAME:ada2_related_disorder ADA2-related disorder Supplemental_disease_name DISEASE_NAME:ada_related_disorder ADA-related disorder Supplemental_disease_name DISEASE_NAME:adam10_related_disorder ADAM10-related disorder Supplemental_disease_name DISEASE_NAME:adam17_related_disorder ADAM17-related disorder Supplemental_disease_name DISEASE_NAME:adam22_related_disorder ADAM22-related disorder Supplemental_disease_name DISEASE_NAME:adam9_related_disorder ADAM9-related disorder Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_1 Adams-Oliver syndrome 1 Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_2 Adams-Oliver syndrome 2 Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_4 Adams-Oliver syndrome 4 Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_5 Adams-Oliver syndrome 5 Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_5_aortic_valve_disease_1 Adams-Oliver syndrome 5;Aortic valve disease 1 Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_5_aortic_valve_disorder Adams-Oliver syndrome 5;Aortic valve disorder Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_6 Adams-Oliver syndrome 6 Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_aortic_valve_disorder Adams-Oliver syndrome;Aortic valve disorder Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_congenital_heart_anomalies Adams-Oliver syndrome;Congenital heart anomalies Supplemental_disease_name DISEASE_NAME:adamts10_related_disorder ADAMTS10-related disorder Supplemental_disease_name DISEASE_NAME:adamts13_related_disorder ADAMTS13-related disorder Supplemental_disease_name DISEASE_NAME:adamts17_related_disorder ADAMTS17-related disorder Supplemental_disease_name DISEASE_NAME:adamts18_related_disorder ADAMTS18-related disorder Supplemental_disease_name DISEASE_NAME:adamts19_associated_congenital_heartdefect ADAMTS19-associated congenital heartdefect Supplemental_disease_name DISEASE_NAME:adamts19_related_disorder ADAMTS19-related disorder Supplemental_disease_name DISEASE_NAME:adamts20_related_condition ADAMTS20-related condition Supplemental_disease_name DISEASE_NAME:adamts2_related_disorder ADAMTS2-related disorder Supplemental_disease_name DISEASE_NAME:adamts3_related_disorder ADAMTS3-related disorder Supplemental_disease_name DISEASE_NAME:adamts6_related_disorder ADAMTS6-related disorder Supplemental_disease_name DISEASE_NAME:adamts9_related_disorder ADAMTS9-related disorder Supplemental_disease_name DISEASE_NAME:adamtsl1_related_disorder ADAMTSL1-related disorder Supplemental_disease_name DISEASE_NAME:adamtsl2_related_disorder ADAMTSL2-related disorder Supplemental_disease_name DISEASE_NAME:adamtsl4_related_disorder ADAMTSL4-related disorder Supplemental_disease_name DISEASE_NAME:adan_amyloidosis Adan amyloidosis Supplemental_disease_name DISEASE_NAME:adar_related_disorder ADAR-related disorder Supplemental_disease_name DISEASE_NAME:adar_related_type_1_interferonopathy ADAR-related type 1 interferonopathy Supplemental_disease_name DISEASE_NAME:adarb1_related_disorder ADARB1-related disorder Supplemental_disease_name DISEASE_NAME:adat3_related_disorder ADAT3-related disorder Supplemental_disease_name DISEASE_NAME:adck2_related_disorder ADCK2-related disorder Supplemental_disease_name DISEASE_NAME:adcy10_related_disorder ADCY10-related disorder Supplemental_disease_name DISEASE_NAME:adcy1_related_disorder ADCY1-related disorder Supplemental_disease_name DISEASE_NAME:adcy2_related_disorder ADCY2-related disorder Supplemental_disease_name DISEASE_NAME:adcy3_related_disorder ADCY3-related disorder Supplemental_disease_name DISEASE_NAME:adcy5_related_disorder ADCY5-related disorder Supplemental_disease_name DISEASE_NAME:adcy6_related_disorder ADCY6-related disorder Supplemental_disease_name DISEASE_NAME:add1_related_disorder ADD1-related disorder Supplemental_disease_name DISEASE_NAME:add3_related_disorder ADD3-related disorder Supplemental_disease_name DISEASE_NAME:adenocarcinoma_of_lung_response_to_tyrosine_kinase_inhibitor_in_somatic Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic Supplemental_disease_name DISEASE_NAME:adenocarcinoma_of_the_large_intestine Adenocarcinoma of the large intestine Supplemental_disease_name DISEASE_NAME:adenoma_cortisol_producing Adenoma, cortisol-producing Supplemental_disease_name DISEASE_NAME:adenomatous_colonic_polyposis Adenomatous colonic polyposis Supplemental_disease_name DISEASE_NAME:adenomatous_polyposis_coli_attenuated Adenomatous polyposis coli, attenuated Supplemental_disease_name DISEASE_NAME:adenomatous_polyposis_coli_with_congenital_cholesteatoma ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA Supplemental_disease_name DISEASE_NAME:adenosine_deaminase_2_allozyme Adenosine deaminase 2 allozyme Supplemental_disease_name DISEASE_NAME:adenosine_kinase_deficiency Adenosine kinase deficiency Supplemental_disease_name DISEASE_NAME:adenosine_monophosphate_deaminase_deficiency Adenosine monophosphate deaminase deficiency Supplemental_disease_name DISEASE_NAME:adenylate_kinase_deficiency Adenylate kinase deficiency Supplemental_disease_name DISEASE_NAME:adenylosuccinase_deficiency Adenylosuccinase deficiency Supplemental_disease_name DISEASE_NAME:adenylosuccinate_lyase_deficiency Adenylosuccinate lyase deficiency Supplemental_disease_name DISEASE_NAME:adgra3_related_disorder ADGRA3-related disorder Supplemental_disease_name DISEASE_NAME:adgre1_related_disorder ADGRE1-related disorder Supplemental_disease_name DISEASE_NAME:adgre2_related_disorder ADGRE2-related disorder Supplemental_disease_name DISEASE_NAME:adgrg1_related_disorder ADGRG1-related disorder Supplemental_disease_name DISEASE_NAME:adgrg2_related_disorder ADGRG2-related disorder Supplemental_disease_name DISEASE_NAME:adgrg4_related_disorder ADGRG4-related disorder Supplemental_disease_name DISEASE_NAME:adgrg6_related_disorder ADGRG6-related disorder Supplemental_disease_name DISEASE_NAME:adgrl1_related_condition ADGRL1-related condition Supplemental_disease_name DISEASE_NAME:adgrl2_related_disorder ADGRL2-related disorder Supplemental_disease_name DISEASE_NAME:adgrv1_related_disorder ADGRV1-related disorder Supplemental_disease_name DISEASE_NAME:adgrv1_related_myoclonic_epilepsy ADGRV1-related myoclonic epilepsy Supplemental_disease_name DISEASE_NAME:adh7_related_disorder ADH7-related disorder Supplemental_disease_name DISEASE_NAME:adiponectin_deficiency Adiponectin deficiency Supplemental_disease_name DISEASE_NAME:adipoq_related_disorder ADIPOQ-related disorder Supplemental_disease_name DISEASE_NAME:adipor1_related_disorder ADIPOR1-related disorder Supplemental_disease_name DISEASE_NAME:adipor2_related_disorder ADIPOR2-related disorder Supplemental_disease_name DISEASE_NAME:adipositas adipositas Supplemental_disease_name DISEASE_NAME:adk_related_disorder ADK-related disorder Supplemental_disease_name DISEASE_NAME:adnp_related_disorder ADNP-related disorder Supplemental_disease_name DISEASE_NAME:adnp_related_multiple_congenital_anomalies_intellectual_disability_autism_spectrum_disorder ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Supplemental_disease_name DISEASE_NAME:adolescent_alopeciam_dentogingival_abnormalitites_and_intellectual_disability Adolescent alopeciam dentogingival abnormalitites and intellectual disability Supplemental_disease_name DISEASE_NAME:adora1_related_disorder ADORA1-related disorder Supplemental_disease_name DISEASE_NAME:adora3_related_disorder ADORA3-related disorder Supplemental_disease_name DISEASE_NAME:adprhl2_related_disorder ADPRHL2-related disorder Supplemental_disease_name DISEASE_NAME:adprs_related_disorder ADPRS-related disorder Supplemental_disease_name DISEASE_NAME:adra2a_related_disorder ADRA2A-related disorder Supplemental_disease_name DISEASE_NAME:adra2b_related_disorder ADRA2B-related disorder Supplemental_disease_name DISEASE_NAME:adra2c_related_disorder ADRA2C-related disorder Supplemental_disease_name DISEASE_NAME:adrb1_related_disorder ADRB1-related disorder Supplemental_disease_name DISEASE_NAME:adrb2_polymorphism ADRB2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:adrb2_related_disorder ADRB2-related disorder Supplemental_disease_name DISEASE_NAME:adrenal_cortex_carcinoma Adrenal cortex carcinoma Supplemental_disease_name DISEASE_NAME:adrenal_cortex_carcinoma_gastrointestinal_carcinoma Adrenal cortex carcinoma;Gastrointestinal carcinoma Supplemental_disease_name DISEASE_NAME:adrenal_cortex_neoplasm Adrenal cortex neoplasm Supplemental_disease_name DISEASE_NAME:adrenal_hyperplasia Adrenal hyperplasia Supplemental_disease_name DISEASE_NAME:adrenal_hypoplasia Adrenal hypoplasia Supplemental_disease_name DISEASE_NAME:adrenal_insufficiency Adrenal insufficiency Supplemental_disease_name DISEASE_NAME:adrenal_insufficiency_nr5a1_related ADRENAL INSUFFICIENCY, NR5A1-RELATED Supplemental_disease_name DISEASE_NAME:adrenal_pheochromocytoma_palpitations_recurrent_paroxysmal_headache Adrenal pheochromocytoma;Palpitations;Recurrent paroxysmal headache Supplemental_disease_name DISEASE_NAME:adrenocortical_carcinoma_hereditary Adrenocortical carcinoma, hereditary Supplemental_disease_name DISEASE_NAME:adrenocortical_carcinoma_pediatric ADRENOCORTICAL CARCINOMA, PEDIATRIC Supplemental_disease_name DISEASE_NAME:adrenocortical_tumor_somatic Adrenocortical tumor, somatic Supplemental_disease_name DISEASE_NAME:adsl_related_disorder ADSL-related disorder Supplemental_disease_name DISEASE_NAME:adss1_related_disorder ADSS1-related disorder Supplemental_disease_name DISEASE_NAME:adult_fanconi_syndrome_rod_cone_dystrophy_sensorineural_hearing_loss_disorder Adult Fanconi syndrome;Rod-cone dystrophy;Sensorineural hearing loss disorder Supplemental_disease_name DISEASE_NAME:adult_hypophosphatasia_childhood_hypophosphatasia Adult hypophosphatasia;Childhood hypophosphatasia Supplemental_disease_name DISEASE_NAME:adult_hypophosphatasia_childhood_hypophosphatasia_infantile_hypophosphatasia Adult hypophosphatasia;Childhood hypophosphatasia;Infantile hypophosphatasia Supplemental_disease_name DISEASE_NAME:adult_hypophosphatasia_infantile_hypophosphatasia_childhood_hypophosphatasia Adult hypophosphatasia;Infantile hypophosphatasia;Childhood hypophosphatasia Supplemental_disease_name DISEASE_NAME:adult_i_blood_group_phenotype ADULT i BLOOD GROUP PHENOTYPE Supplemental_disease_name DISEASE_NAME:adult_neuronal_ceroid_lipofuscinosis_ceroid_lipofuscinosis_neuronal_6a Adult neuronal ceroid lipofuscinosis;Ceroid lipofuscinosis, neuronal, 6A Supplemental_disease_name DISEASE_NAME:adult_onset_autosomal_dominant_demyelinating_leukodystrophy Adult-onset autosomal dominant demyelinating leukodystrophy Supplemental_disease_name DISEASE_NAME:adult_onset_autosomal_dominant_demyelinating_leukodystrophy_microcephaly_26_primary_autosomal_dominant Adult-onset autosomal dominant demyelinating leukodystrophy;Microcephaly 26, primary, autosomal dominant Supplemental_disease_name DISEASE_NAME:adult_onset_citrullinemia_type_i Adult-onset citrullinemia type I Supplemental_disease_name DISEASE_NAME:adult_onset_foveomacular_vitelliform_dystrophy Adult-onset foveomacular vitelliform dystrophy Supplemental_disease_name DISEASE_NAME:adult_onset_hereditary_spastic_paraplegia Adult onset hereditary spastic paraplegia Supplemental_disease_name DISEASE_NAME:adult_onset_neurodegenerative_disorder Adult onset neurodegenerative disorder Supplemental_disease_name DISEASE_NAME:adult_onset_proximal_spinal_muscular_atrophy_autosomal_dominant Adult-onset proximal spinal muscular atrophy, autosomal dominant Supplemental_disease_name DISEASE_NAME:adult_onset_proximal_spinal_muscular_atrophy_autosomal_dominant_amyotrophic_lateral_sclerosis_type_8 Adult-onset proximal spinal muscular atrophy, autosomal dominant;Amyotrophic lateral sclerosis type 8 Supplemental_disease_name DISEASE_NAME:adult_polyglucosan_body_disease Adult polyglucosan body disease Supplemental_disease_name DISEASE_NAME:adult_polyglucosan_body_disease_glycogen_storage_disease_type_iv Adult polyglucosan body disease;Glycogen storage disease, type IV Supplemental_disease_name DISEASE_NAME:adult_polyglucosan_body_neuropathy Adult polyglucosan body neuropathy Supplemental_disease_name DISEASE_NAME:advance_sleep_phase_syndrome_familial_4 Advance sleep phase syndrome, familial, 4 Supplemental_disease_name DISEASE_NAME:aebp1_related_disorder AEBP1-related disorder Supplemental_disease_name DISEASE_NAME:aerodigestive_tract_cancer_squamous_cell_alcohol_related_protection_against Aerodigestive tract cancer, squamous cell, alcohol-related, protection against Supplemental_disease_name DISEASE_NAME:aff2_related_disorder AFF2-related disorder Supplemental_disease_name DISEASE_NAME:aff3_associated_disorder AFF3-associated disorder Supplemental_disease_name DISEASE_NAME:aff3_related_disorder AFF3-related disorder Supplemental_disease_name DISEASE_NAME:aff3_related_neurodevelopmental_disorders AFF3-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:aff4_related_disorder AFF4-related disorder Supplemental_disease_name DISEASE_NAME:afg2a_related_disorder AFG2A-related disorder Supplemental_disease_name DISEASE_NAME:afg2b_related_disorder AFG2B-related disorder Supplemental_disease_name DISEASE_NAME:afg3l2_associated_disorder AFG3L2-associated disorder Supplemental_disease_name DISEASE_NAME:afg3l2_related_disorder AFG3L2-related disorder Supplemental_disease_name DISEASE_NAME:afib_amyloidosis AFib amyloidosis Supplemental_disease_name DISEASE_NAME:afibrinogenemia Afibrinogenemia Supplemental_disease_name DISEASE_NAME:afp_related_disorder AFP-related disorder Supplemental_disease_name DISEASE_NAME:aga_related_disorder AGA-related disorder Supplemental_disease_name DISEASE_NAME:agammaglobulinaemia_with_absent_btk_expression Agammaglobulinaemia with absent BTK expression Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_10_autosomal_dominant Agammaglobulinemia 10, autosomal dominant Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_2_autosomal_recessive Agammaglobulinemia 2, autosomal recessive Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_3_autosomal_recessive Agammaglobulinemia 3, autosomal recessive Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_4_autosomal_recessive Agammaglobulinemia 4, autosomal recessive Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_5_autosomal_dominant Agammaglobulinemia 5, autosomal dominant Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_6_autosomal_recessive Agammaglobulinemia 6, autosomal recessive Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_7_autosomal_recessive Agammaglobulinemia 7, autosomal recessive Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_7_autosomal_recessive_immunodeficiency_36_with_lymphoproliferation_short_syndrome Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_7_autosomal_recessive_short_syndrome_immunodeficiency_36_with_lymphoproliferation Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 with lymphoproliferation Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_8_autosomal_dominant Agammaglobulinemia 8, autosomal dominant Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_8_autosomal_dominant_agammaglobulinemia_8b_autosomal_recessive Agammaglobulinemia 8, autosomal dominant;Agammaglobulinemia 8b, autosomal recessive Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_8b_autosomal_recessive Agammaglobulinemia 8b, autosomal recessive Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_8b_autosomal_recessive_agammaglobulinemia_8_autosomal_dominant Agammaglobulinemia 8b, autosomal recessive;Agammaglobulinemia 8, autosomal dominant Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_9_autosomal_recessive Agammaglobulinemia 9, autosomal recessive Supplemental_disease_name DISEASE_NAME:aganglionic_megacolon_multiple_endocrine_neoplasia_type_2 Aganglionic megacolon;Multiple endocrine neoplasia, type 2 Supplemental_disease_name DISEASE_NAME:aganglionosis_total_intestinal_hearing_impairment Aganglionosis, total intestinal;Hearing impairment Supplemental_disease_name DISEASE_NAME:agap1_related_disorder AGAP1-related disorder Supplemental_disease_name DISEASE_NAME:agap2_related_disorder AGAP2-related disorder Supplemental_disease_name DISEASE_NAME:agbl1_related_disorder AGBL1-related disorder Supplemental_disease_name DISEASE_NAME:agbl4_related_disorder AGBL4-related disorder Supplemental_disease_name DISEASE_NAME:agbl5_related_disorder AGBL5-related disorder Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_13_atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly_afibrinogenemia Age related macular degeneration 13;Atypical hemolytic-uremic syndrome with I factor anomaly;Afibrinogenemia Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_13_atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly_factor_i_deficiency Age related macular degeneration 13;Atypical hemolytic-uremic syndrome with I factor anomaly;Factor I deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_13_factor_i_deficiency_atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly Age related macular degeneration 13;Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_14_atypical_hemolytic_uremic_syndrome_with_b_factor_anomaly_complement_factor_b_deficiency Age related macular degeneration 14;Atypical hemolytic-uremic syndrome with B factor anomaly;Complement factor b deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_14_complement_component_2_deficiency Age related macular degeneration 14;Complement component 2 deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_15_complement_component_9_deficiency Age related macular degeneration 15;Complement component 9 deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_1_autosomal_recessive_cutis_laxa_type_1 Age related macular degeneration 1;Autosomal recessive cutis laxa type 1 Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_1_hemolytic_uremic_syndrome_atypical_susceptibility_to_1 Age related macular degeneration 1;Hemolytic uremic syndrome, atypical, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_2_cone_rod_dystrophy_3_severe_early_childhood_onset_retinal_dystrophy_retinitis_pigmentosa_19 Age related macular degeneration 2;Cone-rod dystrophy 3;Severe early-childhood-onset retinal dystrophy;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_2_retinitis_pigmentosa_19_cone_rod_dystrophy_3_severe_early_childhood_onset_retinal_dystrophy Age related macular degeneration 2;Retinitis pigmentosa 19;Cone-rod dystrophy 3;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_2_retinitis_pigmentosa_19_severe_early_childhood_onset_retinal_dystrophy_cone_rod_dystrophy_3 Age related macular degeneration 2;Retinitis pigmentosa 19;Severe early-childhood-onset retinal dystrophy;Cone-rod dystrophy 3 Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_2_severe_early_childhood_onset_retinal_dystrophy_cone_rod_dystrophy_3_retinitis_pigmentosa_19 Age related macular degeneration 2;Severe early-childhood-onset retinal dystrophy;Cone-rod dystrophy 3;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_2_severe_early_childhood_onset_retinal_dystrophy_retinitis_pigmentosa_19_cone_rod_dystrophy_3 Age related macular degeneration 2;Severe early-childhood-onset retinal dystrophy;Retinitis pigmentosa 19;Cone-rod dystrophy 3 Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_atypical_hemolytic_uremic_syndrome Age related macular degeneration 4;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_atypical_hemolytic_uremic_syndrome_basal_laminar_drusen Age related macular degeneration 4;Atypical hemolytic-uremic syndrome;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_atypical_hemolytic_uremic_syndrome_basal_laminar_drusen_factor_h_deficiency Age related macular degeneration 4;Atypical hemolytic-uremic syndrome;Basal laminar drusen;Factor H deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_atypical_hemolytic_uremic_syndrome_factor_h_deficiency Age related macular degeneration 4;Atypical hemolytic-uremic syndrome;Factor H deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_basal_laminar_drusen Age related macular degeneration 4;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_basal_laminar_drusen_atypical_hemolytic_uremic_syndrome_factor_h_deficiency Age related macular degeneration 4;Basal laminar drusen;Atypical hemolytic-uremic syndrome;Factor H deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_basal_laminar_drusen_factor_h_deficiency_atypical_hemolytic_uremic_syndrome Age related macular degeneration 4;Basal laminar drusen;Factor H deficiency;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_basal_laminar_drusen_factor_h_deficiency_hemolytic_uremic_syndrome_atypical_susceptibility_to_1 Age related macular degeneration 4;Basal laminar drusen;Factor H deficiency;Hemolytic uremic syndrome, atypical, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_basal_laminar_drusen_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_factor_h_deficiency Age related macular degeneration 4;Basal laminar drusen;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_factor_h_deficiency Age related macular degeneration 4;Factor H deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_factor_h_deficiency_atypical_hemolytic_uremic_syndrome Age related macular degeneration 4;Factor H deficiency;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_factor_h_deficiency_atypical_hemolytic_uremic_syndrome_basal_laminar_drusen Age related macular degeneration 4;Factor H deficiency;Atypical hemolytic-uremic syndrome;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_factor_h_deficiency_basal_laminar_drusen_atypical_hemolytic_uremic_syndrome Age related macular degeneration 4;Factor H deficiency;Basal laminar drusen;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_basal_laminar_drusen_factor_h_deficiency Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen;Factor H deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_4_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_factor_h_deficiency_basal_laminar_drusen Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_9_atypical_hemolytic_uremic_syndrome_with_c3_anomaly_complement_component_3_deficiency Age related macular degeneration 9;Atypical hemolytic-uremic syndrome with C3 anomaly;Complement component 3 deficiency Supplemental_disease_name DISEASE_NAME:age_related_macular_degeneration_9_complement_component_3_deficiency_atypical_hemolytic_uremic_syndrome_with_c3_anomaly Age related macular degeneration 9;Complement component 3 deficiency;Atypical hemolytic-uremic syndrome with C3 anomaly Supplemental_disease_name DISEASE_NAME:agenesis_of_the_corpus_callosum_with_peripheral_neuropathy_charcot_marie_tooth_disease_axonal_iia_2ii Agenesis of the corpus callosum with peripheral neuropathy;Charcot-Marie-Tooth disease, axonal, IIa 2II Supplemental_disease_name DISEASE_NAME:agk_related_disorder AGK-related disorder Supplemental_disease_name DISEASE_NAME:agl_related_disorder AGL-related disorder Supplemental_disease_name DISEASE_NAME:agmo_related_disorder AGMO-related disorder Supplemental_disease_name DISEASE_NAME:agmo_related_neurodevelopmental_disorder AGMO-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ago1_associated_disorder AGO1-associated disorder Supplemental_disease_name DISEASE_NAME:ago1_related_disorder AGO1-related disorder Supplemental_disease_name DISEASE_NAME:ago1_related_intellectual_disability AGO1-related Intellectual disability Supplemental_disease_name DISEASE_NAME:ago1_related_neurodevelopmental_disorder AGO1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ago2_related_disorder AGO2-related disorder Supplemental_disease_name DISEASE_NAME:ago3_related_disorder AGO3-related disorder Supplemental_disease_name DISEASE_NAME:ago4_related_disorder AGO4-related disorder Supplemental_disease_name DISEASE_NAME:agpat2_related_disorder AGPAT2-related disorder Supplemental_disease_name DISEASE_NAME:agps_related_disorder AGPS-related disorder Supplemental_disease_name DISEASE_NAME:agr2_related_disorder AGR2-related disorder Supplemental_disease_name DISEASE_NAME:agrn_related_disorder AGRN-related disorder Supplemental_disease_name DISEASE_NAME:agrp_related_condition AGRP-related condition Supplemental_disease_name DISEASE_NAME:agt_related_disorder AGT-related disorder Supplemental_disease_name DISEASE_NAME:agtpbp1_related_disorder AGTPBP1-related disorder Supplemental_disease_name DISEASE_NAME:agtr1_related_disorder AGTR1-related disorder Supplemental_disease_name DISEASE_NAME:agtr2_related_disorder AGTR2-related disorder Supplemental_disease_name DISEASE_NAME:agxt_related_disorder AGXT-related disorder Supplemental_disease_name DISEASE_NAME:ahcy_related_disorder AHCY-related disorder Supplemental_disease_name DISEASE_NAME:ahdc1_related_disorder AHDC1-related disorder Supplemental_disease_name DISEASE_NAME:ahdc1_related_intellectual_disability_obstructive_sleep_apnea_mild_dysmorphism_syndrome AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:ahdc1_related_intellectual_disability_obstructive_sleep_apnea_mild_dysmorphism_syndrome_cerebellar_vermis_hypoplasia AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome;Cerebellar vermis hypoplasia Supplemental_disease_name DISEASE_NAME:ahi1_related_disorder AHI1-related disorder Supplemental_disease_name DISEASE_NAME:ahnak2_related_disorder AHNAK2-related disorder Supplemental_disease_name DISEASE_NAME:ahnak_related_disorder AHNAK-related disorder Supplemental_disease_name DISEASE_NAME:ahr_related_disorder AHR-related disorder Supplemental_disease_name DISEASE_NAME:ahsg_related_disorder AHSG-related disorder Supplemental_disease_name DISEASE_NAME:ahsp_related_disorder AHSP-related disorder Supplemental_disease_name DISEASE_NAME:aica_ribosiduria AICA-ribosiduria Supplemental_disease_name DISEASE_NAME:aica_ribosuria_due_to_atic_deficiency AICA-ribosuria due to ATIC deficiency Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1 Aicardi-Goutieres syndrome 1 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_autosomal_dominant Aicardi-Goutieres syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_chilblain_lupus_1_inborn_genetic_diseases Aicardi-Goutieres syndrome 1;Chilblain lupus 1;Inborn genetic diseases Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_chilblain_lupus_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations Aicardi-Goutieres syndrome 1;Chilblain lupus 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_chilblain_lupus_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_systemic_lupus_erythematosus Aicardi-Goutieres syndrome 1;Chilblain lupus 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Systemic lupus erythematosus Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_chilblain_lupus_1_systemic_lupus_erythematosus_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations Aicardi-Goutieres syndrome 1;Chilblain lupus 1;Systemic lupus erythematosus;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_chilblain_lupus_1 Aicardi-Goutieres syndrome 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy;Chilblain lupus 1 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_chilblain_lupus_1 Aicardi-Goutieres syndrome 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Chilblain lupus 1 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_chilblain_lupus_1_systemic_lupus_erythematosus Aicardi-Goutieres syndrome 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Chilblain lupus 1;Systemic lupus erythematosus Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_systemic_lupus_erythematosus_chilblain_lupus_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations Aicardi-Goutieres syndrome 1;Systemic lupus erythematosus;Chilblain lupus 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_1_systemic_lupus_erythematosus_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_chilblain_lupus_1 Aicardi-Goutieres syndrome 1;Systemic lupus erythematosus;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Chilblain lupus 1 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_2 Aicardi-Goutieres syndrome 2 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_3 Aicardi-Goutieres syndrome 3 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_4 Aicardi-Goutieres syndrome 4 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_5 Aicardi-Goutieres syndrome 5 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_5_chilblain_lupus_2 Aicardi-Goutieres syndrome 5;Chilblain lupus 2 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_5_prostate_cancer_susceptibility Aicardi-Goutieres syndrome 5;Prostate cancer susceptibility Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_6 Aicardi-Goutieres syndrome 6 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_6_symmetrical_dyschromatosis_of_extremities Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_7 Aicardi-Goutieres syndrome 7 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_7_immunodeficiency_95_singleton_merten_syndrome_1 Aicardi-Goutieres syndrome 7;Immunodeficiency 95;Singleton-Merten syndrome 1 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_7_singleton_merten_syndrome_1 Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_7_singleton_merten_syndrome_1_immunodeficiency_95 Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1;Immunodeficiency 95 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_8 Aicardi-Goutieres syndrome 8 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_9 Aicardi-Goutieres syndrome 9 Supplemental_disease_name DISEASE_NAME:aicda_related_disorder AICDA-related disorder Supplemental_disease_name DISEASE_NAME:aids_related_lymphoma AIDS-related lymphoma Supplemental_disease_name DISEASE_NAME:aifm1_related_disorder AIFM1-related disorder Supplemental_disease_name DISEASE_NAME:aifm1_related_hypomyelination_with_spondylometaphyseal_dysplasia AIFM1-related hypomyelination with spondylometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:aim2_related_disorder AIM2-related disorder Supplemental_disease_name DISEASE_NAME:aimp1_related_disorder AIMP1-related disorder Supplemental_disease_name DISEASE_NAME:aimp2_related_disorder AIMP2-related disorder Supplemental_disease_name DISEASE_NAME:aip_related_disorder AIP-related disorder Supplemental_disease_name DISEASE_NAME:aipl1_related_disorder AIPL1-related disorder Supplemental_disease_name DISEASE_NAME:aipl1_related_retinopathy AIPL1-related retinopathy Supplemental_disease_name DISEASE_NAME:aire_related_disorder AIRE-related disorder Supplemental_disease_name DISEASE_NAME:ajap1_related_disorder AJAP1-related disorder Supplemental_disease_name DISEASE_NAME:ak1_related_condition AK1-related condition Supplemental_disease_name DISEASE_NAME:ak2_related_disorder AK2-related disorder Supplemental_disease_name DISEASE_NAME:ak7_related_disorder AK7-related disorder Supplemental_disease_name DISEASE_NAME:akap10_related_disorder AKAP10-related disorder Supplemental_disease_name DISEASE_NAME:akap11_related_disorder AKAP11-related disorder Supplemental_disease_name DISEASE_NAME:akap13_related_disorder AKAP13-related disorder Supplemental_disease_name DISEASE_NAME:akap14_related_disorder AKAP14-related disorder Supplemental_disease_name DISEASE_NAME:akap6_related_disorder AKAP6-related disorder Supplemental_disease_name DISEASE_NAME:akap6_related_intellectual_disability AKAP6-related Intellectual Disability Supplemental_disease_name DISEASE_NAME:akap9_related_disorder AKAP9-related disorder Supplemental_disease_name DISEASE_NAME:akinesia_rigidity Akinesia;Rigidity Supplemental_disease_name DISEASE_NAME:akirin1_related_disorder AKIRIN1-related disorder Supplemental_disease_name DISEASE_NAME:akna_related_autism_spectrum_disorder AKNA-related autism spectrum disorder Supplemental_disease_name DISEASE_NAME:akr1c2_related_disorder AKR1C2-related disorder Supplemental_disease_name DISEASE_NAME:akr1c4_related_disorder AKR1C4-related disorder Supplemental_disease_name DISEASE_NAME:akr1d1_related_disorder AKR1D1-related disorder Supplemental_disease_name DISEASE_NAME:akt1_inhibitor_response AKT1 Inhibitor response Supplemental_disease_name DISEASE_NAME:akt1_related_disorder AKT1-related disorder Supplemental_disease_name DISEASE_NAME:akt2_related_disorder AKT2-related disorder Supplemental_disease_name DISEASE_NAME:akt3_related_disorder AKT3-related disorder Supplemental_disease_name DISEASE_NAME:akt3_related_microcephaly AKT3 related microcephaly Supplemental_disease_name DISEASE_NAME:al_gazali_syndrome Al-Gazali syndrome Supplemental_disease_name DISEASE_NAME:al_gazali_syndrome_ehlers_danlos_syndrome_spondylodysplastic_type_2_spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_or_without_fractures Al-Gazali syndrome;Ehlers-Danlos syndrome, spondylodysplastic type, 2;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Supplemental_disease_name DISEASE_NAME:al_gazali_syndrome_spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_or_without_fractures_ehlers_danlos_syndrome_spondylodysplastic_type_2 Al-Gazali syndrome;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures;Ehlers-Danlos syndrome, spondylodysplastic type, 2 Supplemental_disease_name DISEASE_NAME:al_raqad_syndrome Al-Raqad syndrome Supplemental_disease_name DISEASE_NAME:alacrima Alacrima Supplemental_disease_name DISEASE_NAME:alacrima_achalasia_and_intellectual_disability_syndrome Alacrima, achalasia, and intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:alad_1_alad_2_polymorphism ALAD*1/ALAD*2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:alad_related_disorder ALAD-related disorder Supplemental_disease_name DISEASE_NAME:alagille_syndrome_atp8b1_related Alagille syndrome, ATP8B1 related Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_jag1_point_mutation Alagille syndrome due to a JAG1 point mutation Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_jag1_point_mutation_charcot_marie_tooth_disease_axonal_type_2hh Alagille syndrome due to a JAG1 point mutation;Charcot-Marie-Tooth disease, axonal, Type 2HH Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_jag1_point_mutation_charcot_marie_tooth_disease_axonal_type_2hh_deafness_congenital_heart_defects_and_posterior_embryotoxon_tetralogy_of_fallot Alagille syndrome due to a JAG1 point mutation;Charcot-Marie-Tooth disease, axonal, Type 2HH;Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_jag1_point_mutation_charcot_marie_tooth_disease_axonal_type_2hh_tetralogy_of_fallot_deafness_congenital_heart_defects_and_posterior_embryotoxon Alagille syndrome due to a JAG1 point mutation;Charcot-Marie-Tooth disease, axonal, Type 2HH;Tetralogy of Fallot;Deafness, congenital heart defects, and posterior embryotoxon Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_jag1_point_mutation_deafness_congenital_heart_defects_and_posterior_embryotoxon_charcot_marie_tooth_disease_axonal_type_2hh_tetralogy_of_fallot Alagille syndrome due to a JAG1 point mutation;Deafness, congenital heart defects, and posterior embryotoxon;Charcot-Marie-Tooth disease, axonal, Type 2HH;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_jag1_point_mutation_deafness_congenital_heart_defects_and_posterior_embryotoxon_tetralogy_of_fallot_charcot_marie_tooth_disease_axonal_type_2hh Alagille syndrome due to a JAG1 point mutation;Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot;Charcot-Marie-Tooth disease, axonal, Type 2HH Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_jag1_point_mutation_tetralogy_of_fallot_charcot_marie_tooth_disease_axonal_type_2hh_deafness_congenital_heart_defects_and_posterior_embryotoxon Alagille syndrome due to a JAG1 point mutation;Tetralogy of Fallot;Charcot-Marie-Tooth disease, axonal, Type 2HH;Deafness, congenital heart defects, and posterior embryotoxon Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_jag1_point_mutation_tetralogy_of_fallot_deafness_congenital_heart_defects_and_posterior_embryotoxon_charcot_marie_tooth_disease_axonal_type_2hh Alagille syndrome due to a JAG1 point mutation;Tetralogy of Fallot;Deafness, congenital heart defects, and posterior embryotoxon;Charcot-Marie-Tooth disease, axonal, Type 2HH Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_notch2_point_mutation Alagille syndrome due to a NOTCH2 point mutation Supplemental_disease_name DISEASE_NAME:alagille_syndrome_due_to_a_notch2_point_mutation_hajdu_cheney_syndrome Alagille syndrome due to a NOTCH2 point mutation;Hajdu-Cheney syndrome Supplemental_disease_name DISEASE_NAME:aland_island_eye_disease_congenital_stationary_night_blindness_2a_x_linked_cone_rod_dystrophy_3 Aland island eye disease;Congenital stationary night blindness 2A;X-linked cone-rod dystrophy 3 Supplemental_disease_name DISEASE_NAME:aland_island_eye_disease_x_linked_cone_rod_dystrophy_3_congenital_stationary_night_blindness_2a Aland island eye disease;X-linked cone-rod dystrophy 3;Congenital stationary night blindness 2A Supplemental_disease_name DISEASE_NAME:alas2_related_disorder ALAS2-related disorder Supplemental_disease_name DISEASE_NAME:alazami_yuan_syndrome Alazami-Yuan syndrome Supplemental_disease_name DISEASE_NAME:alb_related_disorder ALB-related disorder Supplemental_disease_name DISEASE_NAME:albinism Albinism Supplemental_disease_name DISEASE_NAME:albinism_congenital_nystagmus Albinism;Congenital nystagmus Supplemental_disease_name DISEASE_NAME:albinism_myopia_nystagmus Albinism;Myopia;Nystagmus Supplemental_disease_name DISEASE_NAME:albinism_oculocutaneous_type_ii_modifier_of ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF Supplemental_disease_name DISEASE_NAME:albinism_or_congenital_nystagmus Albinism or congenital nystagmus Supplemental_disease_name DISEASE_NAME:albright_hereditary_osteodystrophy_pseudohypoparathyroidism_pseudopseudohypoparathyroidism_acrodysostosis_and_osteoma_cutis Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis Supplemental_disease_name DISEASE_NAME:albumin_asola ALBUMIN ASOLA Supplemental_disease_name DISEASE_NAME:albumin_b ALBUMIN B Supplemental_disease_name DISEASE_NAME:albumin_bazzano ALBUMIN BAZZANO Supplemental_disease_name DISEASE_NAME:albumin_casebrook ALBUMIN CASEBROOK Supplemental_disease_name DISEASE_NAME:albumin_caserta ALBUMIN CASERTA Supplemental_disease_name DISEASE_NAME:albumin_castel_di_sangro ALBUMIN CASTEL DI SANGRO Supplemental_disease_name DISEASE_NAME:albumin_coari_i ALBUMIN COARI I Supplemental_disease_name DISEASE_NAME:albumin_dublin ALBUMIN DUBLIN Supplemental_disease_name DISEASE_NAME:albumin_fukuoka_1 ALBUMIN FUKUOKA 1 Supplemental_disease_name DISEASE_NAME:albumin_hawkes_bay ALBUMIN HAWKES BAY Supplemental_disease_name DISEASE_NAME:albumin_herborn ALBUMIN HERBORN Supplemental_disease_name DISEASE_NAME:albumin_hiroshima_1 ALBUMIN HIROSHIMA 1 Supplemental_disease_name DISEASE_NAME:albumin_hiroshima_2 ALBUMIN HIROSHIMA 2 Supplemental_disease_name DISEASE_NAME:albumin_iowa_city_1 ALBUMIN IOWA CITY 1 Supplemental_disease_name DISEASE_NAME:albumin_komagome_2 ALBUMIN KOMAGOME 2 Supplemental_disease_name DISEASE_NAME:albumin_larino ALBUMIN LARINO Supplemental_disease_name DISEASE_NAME:albumin_malmo_10 ALBUMIN MALMO-10 Supplemental_disease_name DISEASE_NAME:albumin_malmo_47 ALBUMIN MALMO-47 Supplemental_disease_name DISEASE_NAME:albumin_malmo_5 ALBUMIN MALMO-5 Supplemental_disease_name DISEASE_NAME:albumin_malmo_95 ALBUMIN MALMO-95 Supplemental_disease_name DISEASE_NAME:albumin_mexico_2 ALBUMIN MEXICO 2 Supplemental_disease_name DISEASE_NAME:albumin_nagasaki_2 ALBUMIN NAGASAKI 2 Supplemental_disease_name DISEASE_NAME:albumin_nagasaki_3 ALBUMIN NAGASAKI 3 Supplemental_disease_name DISEASE_NAME:albumin_nagoya ALBUMIN NAGOYA Supplemental_disease_name DISEASE_NAME:albumin_naskapi ALBUMIN NASKAPI Supplemental_disease_name DISEASE_NAME:albumin_ortonovo ALBUMIN ORTONOVO Supplemental_disease_name DISEASE_NAME:albumin_osaka_1 ALBUMIN OSAKA 1 Supplemental_disease_name DISEASE_NAME:albumin_parklands ALBUMIN PARKLANDS Supplemental_disease_name DISEASE_NAME:albumin_roma ALBUMIN ROMA Supplemental_disease_name DISEASE_NAME:albumin_rugby_park ALBUMIN RUGBY PARK Supplemental_disease_name DISEASE_NAME:albumin_sondria ALBUMIN SONDRIA Supplemental_disease_name DISEASE_NAME:albumin_tagliacozzo ALBUMIN TAGLIACOZZO Supplemental_disease_name DISEASE_NAME:albumin_tochigi ALBUMIN TOCHIGI Supplemental_disease_name DISEASE_NAME:albumin_torino ALBUMIN TORINO Supplemental_disease_name DISEASE_NAME:albumin_tradate_2 ALBUMIN TRADATE 2 Supplemental_disease_name DISEASE_NAME:albumin_vancouver ALBUMIN VANCOUVER Supplemental_disease_name DISEASE_NAME:albumin_vanves ALBUMIN VANVES Supplemental_disease_name DISEASE_NAME:albumin_venezia ALBUMIN VENEZIA Supplemental_disease_name DISEASE_NAME:albumin_vibo_valentia ALBUMIN VIBO VALENTIA Supplemental_disease_name DISEASE_NAME:albumin_yanomama_2 ALBUMIN YANOMAMA 2 Supplemental_disease_name DISEASE_NAME:alcohol_dependence_developmental_and_epileptic_encephalopathy_78 Alcohol dependence;Developmental and epileptic encephalopathy, 78 Supplemental_disease_name DISEASE_NAME:alcohol_dependence_susceptibility_to Alcohol dependence, susceptibility to Supplemental_disease_name DISEASE_NAME:alcohol_sensitivity_acute Alcohol sensitivity, acute Supplemental_disease_name DISEASE_NAME:alcoholism_susceptibility_to Alcoholism, susceptibility to Supplemental_disease_name DISEASE_NAME:aldh18a1_deficiency ALDH18A1 deficiency Supplemental_disease_name DISEASE_NAME:aldh18a1_related_de_barsy_syndrome ALDH18A1-related de Barsy syndrome Supplemental_disease_name DISEASE_NAME:aldh18a1_related_de_barsy_syndrome_autosomal_recessive_complex_spastic_paraplegia_type_9b_cutis_laxa_autosomal_dominant_3_hereditary_spastic_paraplegia_9a ALDH18A1-related de Barsy syndrome;Autosomal recessive complex spastic paraplegia type 9B;Cutis laxa, autosomal dominant 3;Hereditary spastic paraplegia 9A Supplemental_disease_name DISEASE_NAME:aldh18a1_related_de_barsy_syndrome_cutis_laxa_autosomal_dominant_3_autosomal_recessive_complex_spastic_paraplegia_type_9b_hereditary_spastic_paraplegia_9a ALDH18A1-related de Barsy syndrome;Cutis laxa, autosomal dominant 3;Autosomal recessive complex spastic paraplegia type 9B;Hereditary spastic paraplegia 9A Supplemental_disease_name DISEASE_NAME:aldh18a1_related_de_barsy_syndrome_cutis_laxa_autosomal_dominant_3_hereditary_spastic_paraplegia_9a_autosomal_recessive_complex_spastic_paraplegia_type_9b ALDH18A1-related de Barsy syndrome;Cutis laxa, autosomal dominant 3;Hereditary spastic paraplegia 9A;Autosomal recessive complex spastic paraplegia type 9B Supplemental_disease_name DISEASE_NAME:aldh18a1_related_disorder ALDH18A1-related disorder Supplemental_disease_name DISEASE_NAME:aldh1a2_related_disorder ALDH1A2-related disorder Supplemental_disease_name DISEASE_NAME:aldh1a3_related_disorder ALDH1A3-related disorder Supplemental_disease_name DISEASE_NAME:aldh2_related_disorder ALDH2-related disorder Supplemental_disease_name DISEASE_NAME:aldh3a2_related_disorder ALDH3A2-related disorder Supplemental_disease_name DISEASE_NAME:aldh4a1_related_disorder ALDH4A1-related disorder Supplemental_disease_name DISEASE_NAME:aldh5a1_related_disorder ALDH5A1-related disorder Supplemental_disease_name DISEASE_NAME:aldh6a1_related_disorder ALDH6A1-related disorder Supplemental_disease_name DISEASE_NAME:aldh7a1_related_disorder ALDH7A1-related disorder Supplemental_disease_name DISEASE_NAME:aldh9a1_2_polymorphism ALDH9A1*2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:aldoa_related_disorder ALDOA-related disorder Supplemental_disease_name DISEASE_NAME:aldob_related_disorder ALDOB-related disorder Supplemental_disease_name DISEASE_NAME:aldosterone_producing_adenoma_with_seizures_and_neurological_abnormalities Aldosterone-producing adenoma with seizures and neurological abnormalities Supplemental_disease_name DISEASE_NAME:aldosterone_producing_adenoma_with_seizures_and_neurological_abnormalities_sinoatrial_node_dysfunction_and_deafness Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness Supplemental_disease_name DISEASE_NAME:aldosterone_producing_adrenal_adenoma_somatic Aldosterone-producing adrenal adenoma, somatic Supplemental_disease_name DISEASE_NAME:aldosterone_producing_adrenal_cortex_adenoma Aldosterone-producing adrenal cortex adenoma Supplemental_disease_name DISEASE_NAME:aldosterone_to_renin_ratio_increased Aldosterone to renin ratio, increased Supplemental_disease_name DISEASE_NAME:alfadhel_syndrome Alfadhel syndrome Supplemental_disease_name DISEASE_NAME:alg10_related_disorder ALG10-related disorder Supplemental_disease_name DISEASE_NAME:alg11_congenital_disorder_of_glycosylation ALG11-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:alg11_related_disorder ALG11-related disorder Supplemental_disease_name DISEASE_NAME:alg12_related_disorder ALG12-related disorder Supplemental_disease_name DISEASE_NAME:alg13_related_disorder ALG13-related disorder Supplemental_disease_name DISEASE_NAME:alg14_related_disorder ALG14-related disorder Supplemental_disease_name DISEASE_NAME:alg1_congenital_disorder_of_glycosylation ALG1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:alg1_congenital_disorder_of_glycosylation_focal_segmental_glomerulosclerosis ALG1-congenital disorder of glycosylation;Focal segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:alg1_related_disorder ALG1-related disorder Supplemental_disease_name DISEASE_NAME:alg2_congenital_disorder_of_glycosylation ALG2-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:alg2_congenital_disorder_of_glycosylation_congenital_myasthenic_syndrome_14 ALG2-congenital disorder of glycosylation;Congenital myasthenic syndrome 14 Supplemental_disease_name DISEASE_NAME:alg2_related_disorder ALG2-related disorder Supplemental_disease_name DISEASE_NAME:alg3_congenital_disorder_of_glycosylation ALG3-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:alg3_related_disorder ALG3-related disorder Supplemental_disease_name DISEASE_NAME:alg5_related_disorder ALG5-related disorder Supplemental_disease_name DISEASE_NAME:alg6_congenital_disorder_of_glycosylation_1c ALG6-congenital disorder of glycosylation 1C Supplemental_disease_name DISEASE_NAME:alg6_related_disorder ALG6-related disorder Supplemental_disease_name DISEASE_NAME:alg8_congenital_disorder_of_glycosylation ALG8 congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:alg8_congenital_disorder_of_glycosylation_polycystic_liver_disease_3_with_or_without_kidney_cysts ALG8 congenital disorder of glycosylation;Polycystic liver disease 3 with or without kidney cysts Supplemental_disease_name DISEASE_NAME:alg8_related_disorder ALG8-related disorder Supplemental_disease_name DISEASE_NAME:alg9_associated_autosomal_dominant_polycystic_kidney_disease ALG9-associated autosomal dominant polycystic kidney disease Supplemental_disease_name DISEASE_NAME:alg9_congenital_disorder_of_glycosylation ALG9 congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:alg9_congenital_disorder_of_glycosylation_gillessen_kaesbach_nishimura_syndrome ALG9 congenital disorder of glycosylation;Gillessen-Kaesbach-Nishimura syndrome Supplemental_disease_name DISEASE_NAME:alg9_related_disorder ALG9-related disorder Supplemental_disease_name DISEASE_NAME:alk_related_disorder ALK-related disorder Supplemental_disease_name DISEASE_NAME:alkaline_phosphatase_placental_allele_1_polymorphism ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:alkaline_phosphatase_placental_allele_3_polymorphism ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:alkaline_phosphatase_plasma_level_of_quantitative_trait_locus_2 Alkaline phosphatase, plasma level of, quantitative trait locus 2 Supplemental_disease_name DISEASE_NAME:alkbh8_related_disorder ALKBH8-related disorder Supplemental_disease_name DISEASE_NAME:allergic_rhinitis_susceptibility_to Allergic rhinitis, susceptibility to Supplemental_disease_name DISEASE_NAME:alloalbuminemia Alloalbuminemia Supplemental_disease_name DISEASE_NAME:allopurinol_response Allopurinol response Supplemental_disease_name DISEASE_NAME:alms1_related_disorder ALMS1-related disorder Supplemental_disease_name DISEASE_NAME:alobar_holoprosencephaly Alobar holoprosencephaly Supplemental_disease_name DISEASE_NAME:alopecia_androgenetic_1 Alopecia, androgenetic, 1 Supplemental_disease_name DISEASE_NAME:alopecia_intellectual_disability_syndrome Alopecia-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:alopecia_intellectual_disability_syndrome_1 Alopecia-intellectual disability syndrome 1 Supplemental_disease_name DISEASE_NAME:alopecia_intellectual_disability_syndrome_4 Alopecia-intellectual disability syndrome 4 Supplemental_disease_name DISEASE_NAME:alopecia_intellectual_disability_syndrome_4_cataract_44_hypotrichosis_14 Alopecia-intellectual disability syndrome 4;Cataract 44;Hypotrichosis 14 Supplemental_disease_name DISEASE_NAME:alopecia_intellectual_disability_syndrome_4_hypotrichosis_14_cataract_44 Alopecia-intellectual disability syndrome 4;Hypotrichosis 14;Cataract 44 Supplemental_disease_name DISEASE_NAME:alopecia_universalis_congenita_atrichia_with_papular_lesions Alopecia universalis congenita;Atrichia with papular lesions Supplemental_disease_name DISEASE_NAME:alox12_related_condition ALOX12-related condition Supplemental_disease_name DISEASE_NAME:alox12b_related_disorder ALOX12B-related disorder Supplemental_disease_name DISEASE_NAME:alox5ap_related_disorder ALOX5AP-related disorder Supplemental_disease_name DISEASE_NAME:aloxe3_related_disorder ALOXE3-related disorder Supplemental_disease_name DISEASE_NAME:alpers_like_hepatocerebral_syndrome Alpers-like hepatocerebral syndrome Supplemental_disease_name DISEASE_NAME:alpha_2_macroglobulin_polymorphism ALPHA-2-MACROGLOBULIN POLYMORPHISM Supplemental_disease_name DISEASE_NAME:alpha_actinopathy Alpha-actinopathy Supplemental_disease_name DISEASE_NAME:alpha_alpha_trehalase_deficiency alpha, alpha-Trehalase deficiency Supplemental_disease_name DISEASE_NAME:alpha_beta_t_cell_lymphopenia Alpha/beta T-cell lymphopenia Supplemental_disease_name DISEASE_NAME:alpha_fetoprotein_deficiency Alpha-fetoprotein deficiency Supplemental_disease_name DISEASE_NAME:alpha_fetoprotein_hereditary_persistence_of Alpha-fetoprotein, hereditary persistence of Supplemental_disease_name DISEASE_NAME:alpha_methylacyl_coa_racemase_deficiency_congenital_bile_acid_synthesis_defect_4 Alpha-methylacyl-CoA racemase deficiency;Congenital bile acid synthesis defect 4 Supplemental_disease_name DISEASE_NAME:alpha_n_acetylgalactosaminidase_deficiency_type_1_alpha_n_acetylgalactosaminidase_deficiency_type_2 Alpha-N-acetylgalactosaminidase deficiency type 1;Alpha-N-acetylgalactosaminidase deficiency type 2 Supplemental_disease_name DISEASE_NAME:alpha_n_acetylgalactosaminidase_deficiency_type_2_alpha_n_acetylgalactosaminidase_deficiency_type_1 Alpha-N-acetylgalactosaminidase deficiency type 2;Alpha-N-acetylgalactosaminidase deficiency type 1 Supplemental_disease_name DISEASE_NAME:alpha_n_acetylgalactosaminidase_deficiency_type_2_alpha_n_acetylgalactosaminidase_deficiency_type_3_alpha_n_acetylgalactosaminidase_deficiency_type_1 Alpha-N-acetylgalactosaminidase deficiency type 2;Alpha-N-acetylgalactosaminidase deficiency type 3;Alpha-N-acetylgalactosaminidase deficiency type 1 Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_2_nondeletional Alpha-thalassemia-2, nondeletional Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_and_related_diseases Alpha-thalassemia and related diseases Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_dominant_beta_thalassemia_beta_thalassemia_hbb_lcrb_hb_ss_disease_heinz_body_anemia alpha Thalassemia;Dominant beta-thalassemia;Beta-thalassemia HBB/LCRB;Hb SS disease;Heinz body anemia Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_dutch_type Alpha-thalassemia, Dutch type Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_erythrocytosis_familial_7_heinz_body_anemia_hemoglobin_h_disease alpha Thalassemia;Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_erythrocytosis_familial_7_heinz_body_anemia_hemoglobin_h_disease_methemoglobinemia_alpha_type alpha Thalassemia;Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;Methemoglobinemia, alpha type Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_heinz_body_anemia_methemoglobinemia_alpha_type_erythrocytosis_familial_7_hemoglobin_h_disease alpha Thalassemia;Heinz body anemia;Methemoglobinemia, alpha type;Erythrocytosis, familial, 7;Hemoglobin H disease Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_hemoglobin_h_disease_erythrocytosis_familial_7_heinz_body_anemia_methemoglobinemia_alpha_type alpha Thalassemia;Hemoglobin H disease;Erythrocytosis, familial, 7;Heinz body anemia;Methemoglobinemia, alpha type Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_hemoglobin_h_disease_methemoglobinemia_alpha_type_heinz_body_anemia_erythrocytosis_familial_7 alpha Thalassemia;Hemoglobin H disease;Methemoglobinemia, alpha type;Heinz body anemia;Erythrocytosis, familial, 7 Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_hmong_type Alpha-thalassemia, Hmong type Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_impaired_intellectual_development_syndrome Alpha-thalassemia/impaired intellectual development syndrome Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_intellectual_disability_syndrome Alpha-thalassemia/intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_x_linked_intellectual_disability_atrx_syndrome Alpha thalassemia X-linked intellectual disability (ATRX) syndrome Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_x_linked_intellectual_disability_syndrome_intellectual_disability_hypotonic_facies_syndrome_x_linked_1 Alpha thalassemia-X-linked intellectual disability syndrome;Intellectual disability-hypotonic facies syndrome, X-linked, 1 Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_x_linked_intellectual_disability_syndrome_intellectual_disability_hypotonic_facies_syndrome_x_linked_1_acquired_hemoglobin_h_disease Alpha thalassemia-X-linked intellectual disability syndrome;Intellectual disability-hypotonic facies syndrome, X-linked, 1;Acquired hemoglobin H disease Supplemental_disease_name DISEASE_NAME:alpha_thalassemia_zf_type Alpha-thalassemia, zf type Supplemental_disease_name DISEASE_NAME:alpha_trait_thalassemia Alpha trait thalassemia Supplemental_disease_name DISEASE_NAME:alpi_related_disorder ALPI-related disorder Supplemental_disease_name DISEASE_NAME:alpk1_related_disorder ALPK1-related disorder Supplemental_disease_name DISEASE_NAME:alpk2_related_disorder ALPK2-related disorder Supplemental_disease_name DISEASE_NAME:alpk3_associated_cardiomyopathy ALPK3-associated cardiomyopathy Supplemental_disease_name DISEASE_NAME:alpk3_associated_recessive_cardiomyopathy ALPK3-associated recessive cardiomyopathy Supplemental_disease_name DISEASE_NAME:alpk3_related_disorder ALPK3-related disorder Supplemental_disease_name DISEASE_NAME:alpl_related_autosomal_dominant_hypophosphatasia ALPL-related autosomal dominant hypophosphatasia Supplemental_disease_name DISEASE_NAME:alpl_related_autosomal_recessive_hypophosphatasia ALPL-related autosomal recessive hypophosphatasia Supplemental_disease_name DISEASE_NAME:alpl_related_disorder ALPL-related disorder Supplemental_disease_name DISEASE_NAME:alport_syndrome_1 Alport syndrome 1 Supplemental_disease_name DISEASE_NAME:alport_syndrome_3b_autosomal_recessive Alport syndrome 3b, autosomal recessive Supplemental_disease_name DISEASE_NAME:alport_syndrome_3b_autosomal_recessive_autosomal_dominant_alport_syndrome_hematuria_benign_familial_2 Alport syndrome 3b, autosomal recessive;Autosomal dominant Alport syndrome;Hematuria, benign familial, 2 Supplemental_disease_name DISEASE_NAME:alport_syndrome_3b_autosomal_recessive_hematuria_benign_familial_2_autosomal_dominant_alport_syndrome Alport syndrome 3b, autosomal recessive;Hematuria, benign familial, 2;Autosomal dominant Alport syndrome Supplemental_disease_name DISEASE_NAME:alport_syndrome_autosomal_recessive_alport_syndrome Alport syndrome;Autosomal recessive Alport syndrome Supplemental_disease_name DISEASE_NAME:als2_related_disorder ALS2-related disorder Supplemental_disease_name DISEASE_NAME:als2_related_motor_neuron_disease ALS2-related motor neuron disease Supplemental_disease_name DISEASE_NAME:alsahan_harris_syndrome Alsahan-Harris syndrome Supplemental_disease_name DISEASE_NAME:alström_syndrom Alström Syndrom Supplemental_disease_name DISEASE_NAME:alterations_of_great_arteries_and_veins_connective_tissue_disorder alterations of great arteries and veins;Connective tissue disorder Supplemental_disease_name DISEASE_NAME:altered_myosin_contractile_function Altered myosin contractile function Supplemental_disease_name DISEASE_NAME:altered_potassium_channel_function altered potassium channel function Supplemental_disease_name DISEASE_NAME:altered_red_cell_phenotype altered red cell phenotype Supplemental_disease_name DISEASE_NAME:altered_rhc_expression altered RhC expression Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_1 Alternating hemiplegia of childhood 1 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_1_developmental_and_epileptic_encephalopathy_1_migraine_familial_hemiplegic_2 Alternating hemiplegia of childhood 1;Developmental and epileptic encephalopathy, 1;Migraine, familial hemiplegic, 2 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_1_fetal_akinesia_respiratory_insufficiency_microcephaly_polymicrogyria_and_dysmorphic_facies_developmental_and_epileptic_encephalopathy_98_migraine_familial_hemiplegic_2 Alternating hemiplegia of childhood 1;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies;Developmental and epileptic encephalopathy 98;Migraine, familial hemiplegic, 2 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_1_fetal_akinesia_respiratory_insufficiency_microcephaly_polymicrogyria_and_dysmorphic_facies_migraine_familial_hemiplegic_2_developmental_and_epileptic_encephalopathy_98 Alternating hemiplegia of childhood 1;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies;Migraine, familial hemiplegic, 2;Developmental and epileptic encephalopathy 98 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_1_migraine_familial_hemiplegic_2 Alternating hemiplegia of childhood 1;Migraine, familial hemiplegic, 2 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_1_migraine_familial_hemiplegic_2_fetal_akinesia_respiratory_insufficiency_microcephaly_polymicrogyria_and_dysmorphic_facies_developmental_and_epileptic_encephalopathy_98 Alternating hemiplegia of childhood 1;Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies;Developmental and epileptic encephalopathy 98 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_2 Alternating hemiplegia of childhood 2 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_2_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_dystonia_12 Alternating hemiplegia of childhood 2;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Dystonia 12 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_2_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_dystonia_12_developmental_and_epileptic_encephalopathy_99 Alternating hemiplegia of childhood 2;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Dystonia 12;Developmental and epileptic encephalopathy 99 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_2_developmental_and_epileptic_encephalopathy_99_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_dystonia_12 Alternating hemiplegia of childhood 2;Developmental and epileptic encephalopathy 99;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Dystonia 12 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_2_dystonia_12 Alternating hemiplegia of childhood 2;Dystonia 12 Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_2_dystonia_12_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_2_dystonia_12_developmental_and_epileptic_encephalopathy_99_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome Alternating hemiplegia of childhood 2;Dystonia 12;Developmental and epileptic encephalopathy 99;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Supplemental_disease_name DISEASE_NAME:alternating_hemiplegia_of_childhood_migraine_familial_hemiplegic_2 Alternating hemiplegia of childhood;Migraine, familial hemiplegic, 2 Supplemental_disease_name DISEASE_NAME:alveolar_capillary_dysplasia_with_misalignment_of_pulmonary_veins Alveolar capillary dysplasia with misalignment of pulmonary veins Supplemental_disease_name DISEASE_NAME:alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment Alveolar capillary dysplasia with pulmonary venous misalignment Supplemental_disease_name DISEASE_NAME:alveolar_rhabdomyosarcoma_waardenburg_syndrome_type_1_waardenburg_syndrome_type_3_craniofacial_deafness_hand_syndrome Alveolar rhabdomyosarcoma;Waardenburg syndrome type 1;Waardenburg syndrome type 3;Craniofacial-deafness-hand syndrome Supplemental_disease_name DISEASE_NAME:alx1_related_disorder ALX1-related disorder Supplemental_disease_name DISEASE_NAME:alx3_related_disorder ALX3-related disorder Supplemental_disease_name DISEASE_NAME:alx4_related_disorder ALX4-related disorder Supplemental_disease_name DISEASE_NAME:alyref_related_disorder ALYREF-related disorder Supplemental_disease_name DISEASE_NAME:alzahrani_kuwahara_syndrome Alzahrani-Kuwahara syndrome Supplemental_disease_name DISEASE_NAME:alzheimer_disease_17_susceptibility_to ALZHEIMER DISEASE 17, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:alzheimer_disease_19 Alzheimer disease 19 Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_acne_inversa_familial_3_dilated_cardiomyopathy_1u_pick_disease_frontotemporal_dementia Alzheimer disease 3;Acne inversa, familial, 3;Dilated cardiomyopathy 1U;Pick disease;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_acne_inversa_familial_3_frontotemporal_dementia_pick_disease Alzheimer disease 3;Acne inversa, familial, 3;Frontotemporal dementia;Pick disease Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_acne_inversa_familial_3_pick_disease_frontotemporal_dementia Alzheimer disease 3;Acne inversa, familial, 3;Pick disease;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_dilated_cardiomyopathy_1u_acne_inversa_familial_3_frontotemporal_dementia_pick_disease Alzheimer disease 3;Dilated cardiomyopathy 1U;Acne inversa, familial, 3;Frontotemporal dementia;Pick disease Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_frontotemporal_dementia Alzheimer disease 3;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_frontotemporal_dementia_acne_inversa_familial_3_pick_disease Alzheimer disease 3;Frontotemporal dementia;Acne inversa, familial, 3;Pick disease Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_frontotemporal_dementia_pick_disease Alzheimer disease 3;Frontotemporal dementia;Pick disease Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_frontotemporal_dementia_pick_disease_acne_inversa_familial_3 Alzheimer disease 3;Frontotemporal dementia;Pick disease;Acne inversa, familial, 3 Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_pick_disease_acne_inversa_familial_3_frontotemporal_dementia Alzheimer disease 3;Pick disease;Acne inversa, familial, 3;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_pick_disease_acne_inversa_familial_3_frontotemporal_dementia_dilated_cardiomyopathy_1u Alzheimer disease 3;Pick disease;Acne inversa, familial, 3;Frontotemporal dementia;Dilated cardiomyopathy 1U Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_pick_disease_frontotemporal_dementia_acne_inversa_familial_3 Alzheimer disease 3;Pick disease;Frontotemporal dementia;Acne inversa, familial, 3 Supplemental_disease_name DISEASE_NAME:alzheimer_disease_3_spastic_paraparesis Alzheimer disease 3;Spastic paraparesis Supplemental_disease_name DISEASE_NAME:alzheimer_disease_4_dilated_cardiomyopathy_1v Alzheimer disease 4;Dilated cardiomyopathy 1V Supplemental_disease_name DISEASE_NAME:alzheimer_disease_9 Alzheimer disease 9 Supplemental_disease_name DISEASE_NAME:alzheimer_disease_early_onset_with_cerebral_amyloid_angiopathy Alzheimer disease, early-onset, with cerebral amyloid angiopathy Supplemental_disease_name DISEASE_NAME:alzheimer_disease_familial_3_with_spastic_paraparesis Alzheimer disease familial 3, with spastic paraparesis Supplemental_disease_name DISEASE_NAME:alzheimer_disease_familial_3_with_spastic_paraparesis_and_apraxia Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Supplemental_disease_name DISEASE_NAME:alzheimer_disease_familial_3_with_spastic_paraparesis_and_unusual_plaques Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques Supplemental_disease_name DISEASE_NAME:alzheimer_disease_familial_3_with_unusual_plaques Alzheimer disease, familial, 3, with unusual plaques Supplemental_disease_name DISEASE_NAME:alzheimer_disease_familial_with_spastic_paraparesis_and_unusual_plaques Alzheimer disease, familial, with spastic paraparesis and unusual plaques Supplemental_disease_name DISEASE_NAME:alzheimer_disease_late_onset_susceptibility_to Alzheimer disease, late-onset, susceptibility to Supplemental_disease_name DISEASE_NAME:alzheimer_disease_protection_against Alzheimer disease, protection against Supplemental_disease_name DISEASE_NAME:alzheimer_disease_type_1 Alzheimer disease type 1 Supplemental_disease_name DISEASE_NAME:alzheimer_disease_type_1_cerebral_amyloid_angiopathy_app_related Alzheimer disease type 1;Cerebral amyloid angiopathy, APP-related Supplemental_disease_name DISEASE_NAME:alzheimer_disease_type_1_myeloperoxidase_deficiency Alzheimer disease type 1;Myeloperoxidase deficiency Supplemental_disease_name DISEASE_NAME:alzheimer_disease_type_1_quebec_platelet_disorder Alzheimer disease type 1;Quebec platelet disorder Supplemental_disease_name DISEASE_NAME:amacr_related_disorder AMACR-related disorder Supplemental_disease_name DISEASE_NAME:ambiguous_genitalia Ambiguous genitalia Supplemental_disease_name DISEASE_NAME:amblyopia_myopia Amblyopia;Myopia Supplemental_disease_name DISEASE_NAME:ambn_related_disorder AMBN-related disorder Supplemental_disease_name DISEASE_NAME:ambra1_related_disorder AMBRA1-related disorder Supplemental_disease_name DISEASE_NAME:amed_syndrome_digenic AMED syndrome, digenic Supplemental_disease_name DISEASE_NAME:amegakaryocytic_thrombocytopenia Amegakaryocytic thrombocytopenia Supplemental_disease_name DISEASE_NAME:amegakaryocytic_thrombocytopenia_congenital_2 Amegakaryocytic thrombocytopenia, congenital, 2 Supplemental_disease_name DISEASE_NAME:amelia_cleft_lip_palate_hydrocephalus_iris_coloboma Amelia cleft lip palate hydrocephalus iris coloboma Supplemental_disease_name DISEASE_NAME:amelogenesis_imperfecta_hypocalcification_type Amelogenesis imperfecta, hypocalcification type Supplemental_disease_name DISEASE_NAME:amelogenesis_imperfecta_hypoplastic_autosomal_dominant_local Amelogenesis imperfecta - hypoplastic autosomal dominant - local Supplemental_disease_name DISEASE_NAME:amelogenesis_imperfecta_hypoplastic_autosomal_dominant_local_amelogenesis_imperfecta_type_1c Amelogenesis imperfecta - hypoplastic autosomal dominant - local;Amelogenesis imperfecta type 1C Supplemental_disease_name DISEASE_NAME:amelogenesis_imperfecta_iia_1k Amelogenesis imperfecta, IIa 1K Supplemental_disease_name DISEASE_NAME:amelogenesis_imperfecta_type_1 Amelogenesis imperfecta type 1 Supplemental_disease_name DISEASE_NAME:amelogenesis_imperfecta_type_1a_junctional_epidermolysis_bullosa_gravis_of_herlitz_junctional_epidermolysis_bullosa_non_herlitz_type Amelogenesis imperfecta type 1A;Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type Supplemental_disease_name DISEASE_NAME:amelogenesis_imperfecta_type_1c_amelogenesis_imperfecta_hypoplastic_autosomal_dominant_local Amelogenesis imperfecta type 1C;Amelogenesis imperfecta - hypoplastic autosomal dominant - local Supplemental_disease_name DISEASE_NAME:amelogenesis_imperfecta_type_1e_with_snow_capped_teeth Amelogenesis imperfecta, type 1E, with snow-capped teeth Supplemental_disease_name DISEASE_NAME:amelx_related_disorder AMELX-related disorder Supplemental_disease_name DISEASE_NAME:amer1_related_disorder AMER1-related disorder Supplemental_disease_name DISEASE_NAME:amh_related_disorder AMH-related disorder Supplemental_disease_name DISEASE_NAME:amhr2_related_disorder AMHR2-related disorder Supplemental_disease_name DISEASE_NAME:amikacin_response_toxicity amikacin response - Toxicity Supplemental_disease_name DISEASE_NAME:aminoaciduria Aminoaciduria Supplemental_disease_name DISEASE_NAME:aminoacylase_1_deficiency Aminoacylase-1 deficiency Supplemental_disease_name DISEASE_NAME:aminoglycoside_antibacterials_response_toxicity aminoglycoside antibacterials response - Toxicity Supplemental_disease_name DISEASE_NAME:aminoglycoside_induced_deafness_acute_infantile_liver_failure_due_to_synthesis_defect_of_mtdna_encoded_proteins Aminoglycoside-induced deafness;Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Supplemental_disease_name DISEASE_NAME:aminoglycoside_induced_ototoxicity Aminoglycoside induced ototoxicity Supplemental_disease_name DISEASE_NAME:aminoglycoside_ototoxicity Aminoglycoside Ototoxicity Supplemental_disease_name DISEASE_NAME:amish_lethal_microcephaly Amish lethal microcephaly Supplemental_disease_name DISEASE_NAME:ammecr1_related_disorder AMMECR1-related disorder Supplemental_disease_name DISEASE_NAME:amn_related_disorder AMN-related disorder Supplemental_disease_name DISEASE_NAME:amotl1_associated_disorder AMOTL1-associated disorder Supplemental_disease_name DISEASE_NAME:ampd1_related_disorder AMPD1-related disorder Supplemental_disease_name DISEASE_NAME:ampd2_related_disorder AMPD2-related disorder Supplemental_disease_name DISEASE_NAME:ampd3_related_disorder AMPD3-related disorder Supplemental_disease_name DISEASE_NAME:amt_related_disorder AMT-related disorder Supplemental_disease_name DISEASE_NAME:amtn_related_disorder AMTN-related disorder Supplemental_disease_name DISEASE_NAME:amyloidosis_hereditary_systemic_1 Amyloidosis, hereditary systemic 1 Supplemental_disease_name DISEASE_NAME:amyloidosis_hereditary_systemic_1_carpal_tunnel_syndrome_1_hyperthyroxinemia_dystransthyretinemic Amyloidosis, hereditary systemic 1;Carpal tunnel syndrome 1;Hyperthyroxinemia, dystransthyretinemic Supplemental_disease_name DISEASE_NAME:amyloidosis_hereditary_systemic_1_hyperthyroxinemia_dystransthyretinemic_carpal_tunnel_syndrome_1 Amyloidosis, hereditary systemic 1;Hyperthyroxinemia, dystransthyretinemic;Carpal tunnel syndrome 1 Supplemental_disease_name DISEASE_NAME:amyloidosis_hereditary_systemic_1_modifier_of AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF Supplemental_disease_name DISEASE_NAME:amyloidosis_hereditary_systemic_5 Amyloidosis, hereditary systemic 5 Supplemental_disease_name DISEASE_NAME:amyloidosis_hereditary_systemic_6 Amyloidosis, hereditary systemic 6 Supplemental_disease_name DISEASE_NAME:amyloidosis_hereditary_systemic_6_hypoproteinemia_hypercatabolic Amyloidosis, hereditary systemic 6;Hypoproteinemia, hypercatabolic Supplemental_disease_name DISEASE_NAME:amyloidosis_primary_dilated_cardiomyopathy Amyloidosis;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:amyloidosis_primary_localized_cutaneous_1 Amyloidosis, primary localized cutaneous, 1 Supplemental_disease_name DISEASE_NAME:amyloidosis_primary_localized_cutaneous_2 Amyloidosis, primary localized cutaneous, 2 Supplemental_disease_name DISEASE_NAME:amyloidosis_primary_localized_cutaneous_3 Amyloidosis, primary localized cutaneous, 3 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis Amyotrophic lateral sclerosis Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_1_autosomal_recessive Amyotrophic lateral sclerosis 1, autosomal recessive Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_26_with_frontotemporal_dementia AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_26_with_or_without_frontotemporal_dementia Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_27_juvenile Amyotrophic lateral sclerosis 27, juvenile Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_27_juvenile_neuropathy_hereditary_sensory_and_autonomic_type_1a Amyotrophic lateral sclerosis 27, juvenile;Neuropathy, hereditary sensory and autonomic, type 1A Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_28 Amyotrophic lateral sclerosis 28 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_6_autosomal_recessive Amyotrophic lateral sclerosis 6, autosomal recessive Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_parkinsonism_dementia_complex Amyotrophic lateral sclerosis-parkinsonism-dementia complex Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_susceptibility_to Amyotrophic lateral sclerosis, susceptibility to Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_susceptibility_to_13 Amyotrophic lateral sclerosis, susceptibility to, 13 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_susceptibility_to_24 Amyotrophic lateral sclerosis, susceptibility to, 24 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_susceptibility_to_24_mohr_syndrome_short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24;Mohr syndrome;Short-rib thoracic dysplasia 6 with or without polydactyly Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_susceptibility_to_24_short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24;Short-rib thoracic dysplasia 6 with or without polydactyly Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_susceptibility_to_24_short_rib_thoracic_dysplasia_6_with_or_without_polydactyly_mohr_syndrome Amyotrophic lateral sclerosis, susceptibility to, 24;Short-rib thoracic dysplasia 6 with or without polydactyly;Mohr syndrome Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_susceptibility_to_25 Amyotrophic lateral sclerosis, susceptibility to, 25 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_susceptibility_to_25_hereditary_spastic_paraplegia_10_myoclonus_intractable_neonatal Amyotrophic lateral sclerosis, susceptibility to, 25;Hereditary spastic paraplegia 10;Myoclonus, intractable, neonatal Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_susceptibility_to_25_myoclonus_intractable_neonatal_hereditary_spastic_paraplegia_10 Amyotrophic lateral sclerosis, susceptibility to, 25;Myoclonus, intractable, neonatal;Hereditary spastic paraplegia 10 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_10_frontotemporal_lobar_degeneration_with_tdp43_inclusions_tardbp_related Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_11_bilateral_parasagittal_parieto_occipital_polymicrogyria_charcot_marie_tooth_disease_type_4j_yunis_varon_syndrome Amyotrophic lateral sclerosis type 11;Bilateral parasagittal parieto-occipital polymicrogyria;Charcot-Marie-Tooth disease type 4J;Yunis-Varon syndrome Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_11_charcot_marie_tooth_disease_type_4j_yunis_varon_syndrome_bilateral_parasagittal_parieto_occipital_polymicrogyria Amyotrophic lateral sclerosis type 11;Charcot-Marie-Tooth disease type 4J;Yunis-Varon syndrome;Bilateral parasagittal parieto-occipital polymicrogyria Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_11_yunis_varon_syndrome_charcot_marie_tooth_disease_type_4j_bilateral_parasagittal_parieto_occipital_polymicrogyria Amyotrophic lateral sclerosis type 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease type 4J;Bilateral parasagittal parieto-occipital polymicrogyria Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_12_glaucoma_1_open_angle_e_primary_open_angle_glaucoma Amyotrophic lateral sclerosis type 12;Glaucoma 1, open angle, E;Primary open angle glaucoma Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_12_primary_open_angle_glaucoma Amyotrophic lateral sclerosis type 12;Primary open angle glaucoma Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_12_primary_open_angle_glaucoma_glaucoma_1_open_angle_e Amyotrophic lateral sclerosis type 12;Primary open angle glaucoma;Glaucoma 1, open angle, E Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_12_primary_open_angle_glaucoma_glaucoma_normal_tension_susceptibility_to Amyotrophic lateral sclerosis type 12;Primary open angle glaucoma;Glaucoma, normal tension, susceptibility to Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_16_autosomal_recessive_distal_spinal_muscular_atrophy_2 Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_1_charcot_marie_tooth_disease_axonal_type_2cc Amyotrophic lateral sclerosis type 1;Charcot-Marie-Tooth disease axonal type 2CC Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_1_neuronopathy_distal_hereditary_motor_type_7b_perry_syndrome Amyotrophic lateral sclerosis type 1;Neuronopathy, distal hereditary motor, type 7B;Perry syndrome Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_1_perry_syndrome_neuronopathy_distal_hereditary_motor_type_7b Amyotrophic lateral sclerosis type 1;Perry syndrome;Neuronopathy, distal hereditary motor, type 7B Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_1_spastic_tetraplegia_and_axial_hypotonia_progressive Amyotrophic lateral sclerosis type 1;Spastic tetraplegia and axial hypotonia, progressive Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_23_inclusion_body_myopathy_and_brain_white_matter_abnormalities Amyotrophic lateral sclerosis type 23;Inclusion body myopathy and brain white matter abnormalities Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_2_juvenile Amyotrophic lateral sclerosis type 2, juvenile Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_2_juvenile_infantile_onset_ascending_hereditary_spastic_paralysis_juvenile_primary_lateral_sclerosis Amyotrophic lateral sclerosis type 2, juvenile;Infantile-onset ascending hereditary spastic paralysis;Juvenile primary lateral sclerosis Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_2_juvenile_juvenile_primary_lateral_sclerosis_infantile_onset_ascending_hereditary_spastic_paralysis Amyotrophic lateral sclerosis type 2, juvenile;Juvenile primary lateral sclerosis;Infantile-onset ascending hereditary spastic paralysis Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_4_spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_2 Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_5_charcot_marie_tooth_disease_axonal_type_2x Amyotrophic lateral sclerosis type 5;Charcot-Marie-Tooth disease axonal type 2X Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_5_charcot_marie_tooth_disease_axonal_type_2x_hereditary_spastic_paraplegia_11 Amyotrophic lateral sclerosis type 5;Charcot-Marie-Tooth disease axonal type 2X;Hereditary spastic paraplegia 11 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_5_hereditary_spastic_paraplegia_11 Amyotrophic lateral sclerosis type 5;Hereditary spastic paraplegia 11 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_5_hereditary_spastic_paraplegia_11_charcot_marie_tooth_disease_axonal_type_2x Amyotrophic lateral sclerosis type 5;Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_6_tremor_hereditary_essential_4 Amyotrophic lateral sclerosis type 6;Tremor, hereditary essential, 4 Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_type_8_adult_onset_proximal_spinal_muscular_atrophy_autosomal_dominant Amyotrophic lateral sclerosis type 8;Adult-onset proximal spinal muscular atrophy, autosomal dominant Supplemental_disease_name DISEASE_NAME:amyotrophic_lateral_sclerosis_with_sensory_neuropathy Amyotrophic Lateral Sclerosis with Sensory Neuropathy Supplemental_disease_name DISEASE_NAME:amyotrophy Amyotrophy Supplemental_disease_name DISEASE_NAME:amz2_related_disorder AMZ2-related disorder Supplemental_disease_name DISEASE_NAME:anadysplasia_like_spontaneously_remitting_spondylometaphyseal_dysplasia Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:analbuminemia Analbuminemia Supplemental_disease_name DISEASE_NAME:analbuminemia_baghdad Analbuminemia Baghdad Supplemental_disease_name DISEASE_NAME:anapc5_related_disorder ANAPC5-related disorder Supplemental_disease_name DISEASE_NAME:anaplastic_large_cell_medulloblastoma Anaplastic/large cell medulloblastoma Supplemental_disease_name DISEASE_NAME:anauxetic_dysplasia_1_metaphyseal_chondrodysplasia_mckusick_type_metaphyseal_dysplasia_without_hypotrichosis Anauxetic dysplasia 1;Metaphyseal chondrodysplasia, McKusick type;Metaphyseal dysplasia without hypotrichosis Supplemental_disease_name DISEASE_NAME:anauxetic_dysplasia_1_metaphyseal_dysplasia_without_hypotrichosis_metaphyseal_chondrodysplasia_mckusick_type Anauxetic dysplasia 1;Metaphyseal dysplasia without hypotrichosis;Metaphyseal chondrodysplasia, McKusick type Supplemental_disease_name DISEASE_NAME:andersen_tawil_syndrome_atrial_fibrillation_familial_9_short_qt_syndrome_type_3 Andersen Tawil syndrome;Atrial fibrillation, familial, 9;Short QT syndrome type 3 Supplemental_disease_name DISEASE_NAME:andersen_tawil_syndrome_short_qt_syndrome_type_1_atrial_fibrillation_familial_1 Andersen Tawil syndrome;Short QT syndrome type 1;Atrial fibrillation, familial, 1 Supplemental_disease_name DISEASE_NAME:andersen_tawil_syndrome_short_qt_syndrome_type_3 Andersen Tawil syndrome;Short QT syndrome type 3 Supplemental_disease_name DISEASE_NAME:andersen_tawil_syndrome_short_qt_syndrome_type_3_atrial_fibrillation_familial_9 Andersen Tawil syndrome;Short QT syndrome type 3;Atrial fibrillation, familial, 9 Supplemental_disease_name DISEASE_NAME:androgen_deprivation_therapy_response Androgen deprivation therapy response Supplemental_disease_name DISEASE_NAME:androgen_insensitivity_partial_with_breast_cancer Androgen insensitivity, partial, with breast cancer Supplemental_disease_name DISEASE_NAME:androgen_resistance_syndrome_hypospadias_1_x_linked_partial_androgen_insensitivity_syndrome_kennedy_disease_prostate_cancer Androgen resistance syndrome;Hypospadias 1, X-linked;Partial androgen insensitivity syndrome;Kennedy disease;Prostate cancer Supplemental_disease_name DISEASE_NAME:androgen_resistance_syndrome_kennedy_disease Androgen resistance syndrome;Kennedy disease Supplemental_disease_name DISEASE_NAME:androgen_resistance_syndrome_kennedy_disease_familial_prostate_cancer_partial_androgen_insensitivity_syndrome_hypospadias_1_x_linked Androgen resistance syndrome;Kennedy disease;Familial prostate cancer;Partial androgen insensitivity syndrome;Hypospadias 1, X-linked Supplemental_disease_name DISEASE_NAME:androgen_resistance_syndrome_kennedy_disease_hypospadias_1_x_linked_prostate_cancer_partial_androgen_insensitivity_syndrome Androgen resistance syndrome;Kennedy disease;Hypospadias 1, X-linked;Prostate cancer;Partial androgen insensitivity syndrome Supplemental_disease_name DISEASE_NAME:androgen_resistance_syndrome_kennedy_disease_partial_androgen_insensitivity_syndrome_prostate_cancer_hypospadias_1_x_linked Androgen resistance syndrome;Kennedy disease;Partial androgen insensitivity syndrome;Prostate cancer;Hypospadias 1, X-linked Supplemental_disease_name DISEASE_NAME:androgen_resistance_syndrome_kennedy_disease_prostate_cancer_partial_androgen_insensitivity_syndrome_hypospadias_1_x_linked Androgen resistance syndrome;Kennedy disease;Prostate cancer;Partial androgen insensitivity syndrome;Hypospadias 1, X-linked Supplemental_disease_name DISEASE_NAME:androgen_resistance_syndrome_partial_androgen_insensitivity_syndrome_hypospadias_1_x_linked_kennedy_disease_prostate_cancer Androgen resistance syndrome;Partial androgen insensitivity syndrome;Hypospadias 1, X-linked;Kennedy disease;Prostate cancer Supplemental_disease_name DISEASE_NAME:androgen_resistance_syndrome_partial_androgen_insensitivity_syndrome_hypospadias_1_x_linked_prostate_cancer_hereditary_x_linked_3_kennedy_disease Androgen resistance syndrome;Partial androgen insensitivity syndrome;Hypospadias 1, X-linked;Prostate cancer, hereditary, X-linked 3;Kennedy disease Supplemental_disease_name DISEASE_NAME:androgen_resistance_syndrome_partial_androgen_insensitivity_syndrome_prostate_cancer_hereditary_x_linked_3_hypospadias_1_x_linked_kennedy_disease Androgen resistance syndrome;Partial androgen insensitivity syndrome;Prostate cancer, hereditary, X-linked 3;Hypospadias 1, X-linked;Kennedy disease Supplemental_disease_name DISEASE_NAME:anemia_congenital_dyserythropoietic_type_1a Anemia, congenital dyserythropoietic, type 1a Supplemental_disease_name DISEASE_NAME:anemia_congenital_dyserythropoietic_type_iiib Anemia, congenital dyserythropoietic, type IIIb Supplemental_disease_name DISEASE_NAME:anemia_congenital_dyserythropoietic_type_iiib_autosomal_recessive Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive Supplemental_disease_name DISEASE_NAME:anemia_congenital_dyserythropoietic_type_ivb Anemia, congenital dyserythropoietic, type IVb Supplemental_disease_name DISEASE_NAME:anemia_nonspherocytic_hemolytic_due_to_g6pd_deficiency Anemia, nonspherocytic hemolytic, due to G6PD deficiency Supplemental_disease_name DISEASE_NAME:anemia_nonspherocytic_hemolytic_due_to_g6pd_deficiency_g6pd_deficiency Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD deficiency Supplemental_disease_name DISEASE_NAME:anemia_nonspherocytic_hemolytic_due_to_g6pd_deficiency_malaria_susceptibility_to Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Malaria, susceptibility to Supplemental_disease_name DISEASE_NAME:anemia_perinatal_hemolytic_fatal_or_near_fatal ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL Supplemental_disease_name DISEASE_NAME:anemia_pure_red_cell_aplasia Anemia;Pure red-cell aplasia Supplemental_disease_name DISEASE_NAME:anemia_reticulocytopenia Anemia;Reticulocytopenia Supplemental_disease_name DISEASE_NAME:anemia_sideroblastic_5 Anemia, sideroblastic, 5 Supplemental_disease_name DISEASE_NAME:anemia_unspecified Anemia, unspecified Supplemental_disease_name DISEASE_NAME:anencephaly_1 Anencephaly 1 Supplemental_disease_name DISEASE_NAME:anencephaly_2 Anencephaly 2 Supplemental_disease_name DISEASE_NAME:anencephaly_polydactyly_renal_cyst Anencephaly;Polydactyly;Renal cyst Supplemental_disease_name DISEASE_NAME:aneurysm Aneurysm Supplemental_disease_name DISEASE_NAME:aneurysm_intracranial_berry_12 Aneurysm, intracranial berry, 12 Supplemental_disease_name DISEASE_NAME:aneurysm_osteoarthritis_syndrome Aneurysm-osteoarthritis syndrome Supplemental_disease_name DISEASE_NAME:ang_related_disorder ANG-related disorder Supplemental_disease_name DISEASE_NAME:angelman_syndrome_generalized_epilepsy_with_febrile_seizures_plus_early_infantile_epileptic_encephalopathy_autosomal_dominant_childhood_absence_epilepsy Angelman syndrome;Generalized epilepsy with febrile seizures plus;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Childhood absence epilepsy Supplemental_disease_name DISEASE_NAME:angelman_syndrome_like Angelman syndrome-like Supplemental_disease_name DISEASE_NAME:angelman_syndrome_like_developmental_and_epileptic_encephalopathy_1_developmental_and_epileptic_encephalopathy_2 Angelman syndrome-like;Developmental and epileptic encephalopathy, 1;Developmental and epileptic encephalopathy, 2 Supplemental_disease_name DISEASE_NAME:angelman_syndrome_like_developmental_and_epileptic_encephalopathy_2 Angelman syndrome-like;Developmental and epileptic encephalopathy, 2 Supplemental_disease_name DISEASE_NAME:angioedema_hereditary_4 Angioedema, hereditary, 4 Supplemental_disease_name DISEASE_NAME:angioedema_hereditary_4_plasminogen_deficiency_type_i Angioedema, hereditary, 4;Plasminogen deficiency, type I Supplemental_disease_name DISEASE_NAME:angioedema_hereditary_5 Angioedema, hereditary, 5 Supplemental_disease_name DISEASE_NAME:angioedema_hereditary_6 Angioedema, hereditary, 6 Supplemental_disease_name DISEASE_NAME:angioedema_hereditary_6_high_molecular_weight_kininogen_deficiency Angioedema, hereditary, 6;High molecular weight kininogen deficiency Supplemental_disease_name DISEASE_NAME:angioedema_hereditary_7 Angioedema, hereditary, 7 Supplemental_disease_name DISEASE_NAME:angioedema_hereditary_8 Angioedema, hereditary, 8 Supplemental_disease_name DISEASE_NAME:angioedema_hypertensive_disorder_urticaria_hyperbilirubinemia Angioedema;Hypertensive disorder;Urticaria;Hyperbilirubinemia Supplemental_disease_name DISEASE_NAME:angiofibroma_somatic Angiofibroma, somatic Supplemental_disease_name DISEASE_NAME:angiofibromas_astrocytoma_kidney_angiomyolipoma Angiofibromas;Astrocytoma;Kidney angiomyolipoma Supplemental_disease_name DISEASE_NAME:angiokeratoma_corporis_diffusum_with_arteriovenous_fistulas Angiokeratoma corporis diffusum with arteriovenous fistulas Supplemental_disease_name DISEASE_NAME:angiomatoid_fibrous_histiocytoma Angiomatoid fibrous histiocytoma Supplemental_disease_name DISEASE_NAME:angioosteohypertrophic_syndrome Angioosteohypertrophic syndrome Supplemental_disease_name DISEASE_NAME:angiotensin_i_converting_enzyme_benign_serum_increase Angiotensin i-converting enzyme, benign serum increase Supplemental_disease_name DISEASE_NAME:angpt1_related_disorder ANGPT1-related disorder Supplemental_disease_name DISEASE_NAME:angpt2_related_disorder ANGPT2-related disorder Supplemental_disease_name DISEASE_NAME:angptl3_related_disorder ANGPTL3-related disorder Supplemental_disease_name DISEASE_NAME:angptl4_related_disorder ANGPTL4-related disorder Supplemental_disease_name DISEASE_NAME:angptl6_related_disorder ANGPTL6-related disorder Supplemental_disease_name DISEASE_NAME:anhaptoglobinemia Anhaptoglobinemia Supplemental_disease_name DISEASE_NAME:anhidrotic_ectodermal_dysplasia Anhidrotic ectodermal dysplasia Supplemental_disease_name DISEASE_NAME:anhydramnios Anhydramnios Supplemental_disease_name DISEASE_NAME:anhydramnios_bilateral_renal_agenesis Anhydramnios;Bilateral renal agenesis Supplemental_disease_name DISEASE_NAME:anhydramnios_enlarged_kidney_hyperechogenic_kidneys_multiple_renal_cysts Anhydramnios;Enlarged kidney;Hyperechogenic kidneys;Multiple renal cysts Supplemental_disease_name DISEASE_NAME:anhydramnios_enlarged_kidney_multiple_renal_cysts Anhydramnios;Enlarged kidney;Multiple renal cysts Supplemental_disease_name DISEASE_NAME:anhydramnios_hyperechogenic_kidneys_multiple_renal_cysts_enlarged_kidney Anhydramnios;Hyperechogenic kidneys;Multiple renal cysts;Enlarged kidney Supplemental_disease_name DISEASE_NAME:anhydramnios_large_fontanelles Anhydramnios;Large fontanelles Supplemental_disease_name DISEASE_NAME:anhydramnios_multiple_renal_cysts Anhydramnios;Multiple renal cysts Supplemental_disease_name DISEASE_NAME:aniridia_1_irido_corneo_trabecular_dysgenesis Aniridia 1;Irido-corneo-trabecular dysgenesis Supplemental_disease_name DISEASE_NAME:aniridia_2 Aniridia 2 Supplemental_disease_name DISEASE_NAME:aniridia_3 Aniridia 3 Supplemental_disease_name DISEASE_NAME:aniridia_atypical Aniridia, atypical Supplemental_disease_name DISEASE_NAME:ank1_related_disorder ANK1-related disorder Supplemental_disease_name DISEASE_NAME:ank2_associated_complex_neurodevelopmental_disorder ANK2-associated Complex Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:ank2_associated_disorder ANK2-associated disorder Supplemental_disease_name DISEASE_NAME:ank2_associated_neurodevelopmental_disorder ANK2-associated Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:ank2_associated_seizure_disorder ANK2-associated seizure disorder Supplemental_disease_name DISEASE_NAME:ank2_related_autism ANK2-related Autism Supplemental_disease_name DISEASE_NAME:ank2_related_disorder ANK2-related disorder Supplemental_disease_name DISEASE_NAME:ank2_related_epilepsy ANK2-related epilepsy Supplemental_disease_name DISEASE_NAME:ank3_related_disorder ANK3-related disorder Supplemental_disease_name DISEASE_NAME:ank3_related_neurodevelopmental_disorder ANK3-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ank_related_autism_spectrum_disorder_and_epilepsy ANK-related Autism spectrum disorder and epilepsy Supplemental_disease_name DISEASE_NAME:ankfy1_related_disorder ANKFY1-related disorder Supplemental_disease_name DISEASE_NAME:ankh_related_disorder ANKH-related disorder Supplemental_disease_name DISEASE_NAME:ankk1_related_disorder ANKK1-related disorder Supplemental_disease_name DISEASE_NAME:ankle2_related_disorder ANKLE2-related disorder Supplemental_disease_name DISEASE_NAME:ankrd11_related_disorder ANKRD11-related disorder Supplemental_disease_name DISEASE_NAME:ankrd12_related_disorder ANKRD12-related disorder Supplemental_disease_name DISEASE_NAME:ankrd13d_related_condition ANKRD13D-related condition Supplemental_disease_name DISEASE_NAME:ankrd17_related_disorder ANKRD17-related disorder Supplemental_disease_name DISEASE_NAME:ankrd1_related_dilated_cardiomyopathy Ankrd1-related dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:ankrd1_related_disorder ANKRD1-related disorder Supplemental_disease_name DISEASE_NAME:ankrd26_related_disorder ANKRD26-related disorder Supplemental_disease_name DISEASE_NAME:ankrd31_related_disorder ANKRD31-related disorder Supplemental_disease_name DISEASE_NAME:ankrd6_related_disorder ANKRD6-related disorder Supplemental_disease_name DISEASE_NAME:anks1b_related_disorder ANKS1B-related disorder Supplemental_disease_name DISEASE_NAME:anks1b_related_neurodevelopmental_disorder ANKS1B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:anks3_related_disorder ANKS3-related disorder Supplemental_disease_name DISEASE_NAME:anks6_related_disorder ANKS6-related disorder Supplemental_disease_name DISEASE_NAME:ankyloblepharon_ectodermal_defects_cleft_lip_palate Ankyloblepharon-ectodermal defects-cleft lip/palate Supplemental_disease_name DISEASE_NAME:ankyloblepharon_filiforme_adnatum_cleft_palate_syndrome Ankyloblepharon filiforme adnatum-cleft palate syndrome Supplemental_disease_name DISEASE_NAME:ankzf1_related_disorder ANKZF1-related disorder Supplemental_disease_name DISEASE_NAME:anln_related_disorder ANLN-related disorder Supplemental_disease_name DISEASE_NAME:annular_epidermolytic_ichthyosis Annular epidermolytic ichthyosis Supplemental_disease_name DISEASE_NAME:ano10_related_disorder ANO10-related disorder Supplemental_disease_name DISEASE_NAME:ano1_related_fatal_neonatal_disease_due_to_impaired_chloride_currents ANO1-related fatal neonatal disease due to impaired chloride currents Supplemental_disease_name DISEASE_NAME:ano3_related_disorder ANO3-related disorder Supplemental_disease_name DISEASE_NAME:ano4_related_disorder ANO4-related disorder Supplemental_disease_name DISEASE_NAME:ano5_muscle_disease ANO5 Muscle Disease Supplemental_disease_name DISEASE_NAME:ano5_related_disorder ANO5-related disorder Supplemental_disease_name DISEASE_NAME:ano5_related_muscle_diseases ANO5-Related Muscle Diseases Supplemental_disease_name DISEASE_NAME:ano5_related_muscular_dystrophy ANO5-related muscular dystrophy Supplemental_disease_name DISEASE_NAME:ano6_related_disorder ANO6-related disorder Supplemental_disease_name DISEASE_NAME:ano8_related_disorder ANO8-related disorder Supplemental_disease_name DISEASE_NAME:anomalous_pulmonary_venous_return Anomalous pulmonary venous return Supplemental_disease_name DISEASE_NAME:anophthalmia Anophthalmia Supplemental_disease_name DISEASE_NAME:anophthalmia_and_microphthalmia Anophthalmia and microphthalmia Supplemental_disease_name DISEASE_NAME:anophthalmia_hypergonadotropic_hypogonadism Anophthalmia;Hypergonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:anophthalmia_microphthalmia Anophthalmia;Microphthalmia Supplemental_disease_name DISEASE_NAME:anophthalmia_microphthalmia_syndrome Anophthalmia-microphthalmia syndrome Supplemental_disease_name DISEASE_NAME:anophthalmia_microphthalmia_syndrome_irido_corneo_trabecular_dysgenesis Anophthalmia-microphthalmia syndrome;Irido-corneo-trabecular dysgenesis Supplemental_disease_name DISEASE_NAME:anophthalmia_renal_hypoplasia_aplasia Anophthalmia;Renal hypoplasia/aplasia Supplemental_disease_name DISEASE_NAME:anorectal_anomaly Anorectal anomaly Supplemental_disease_name DISEASE_NAME:anorectal_malformation Anorectal malformation Supplemental_disease_name DISEASE_NAME:anos1_related_disorder ANOS1-related disorder Supplemental_disease_name DISEASE_NAME:anosmia Anosmia Supplemental_disease_name DISEASE_NAME:anpep_related_disorder ANPEP-related disorder Supplemental_disease_name DISEASE_NAME:anterior_segment_anomalies_and_cataract Anterior segment anomalies and cataract Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_1_congenital_primary_aphakia_familial_thoracic_aortic_aneurysm_and_aortic_dissection Anterior segment dysgenesis 1;Congenital primary aphakia;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_1_multiple_subtypes ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_3_axenfeld_rieger_syndrome_type_3 Anterior segment dysgenesis 3;Axenfeld-Rieger syndrome type 3 Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_4_axenfeld_rieger_syndrome_type_1 Anterior segment dysgenesis 4;Axenfeld-Rieger syndrome type 1 Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_4_peters_anomaly_subtype ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_5_multiple_subtypes ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_5_peters_anomaly_subtype ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_6_glaucoma_3_primary_infantile_b_glaucoma_3a Anterior segment dysgenesis 6;Glaucoma 3, primary infantile, B;Glaucoma 3A Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_6_glaucoma_3a Anterior segment dysgenesis 6;Glaucoma 3A Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_6_glaucoma_3a_glaucoma_3_primary_infantile_b Anterior segment dysgenesis 6;Glaucoma 3A;Glaucoma 3, primary infantile, B Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_aortic_aneurysm_familial_thoracic_11_susceptibility_to_congenital_primary_aphakia Anterior segment dysgenesis;Aortic aneurysm, familial thoracic 11, susceptibility to;Congenital primary aphakia Supplemental_disease_name DISEASE_NAME:anterior_segment_dysgenesis_congenital_primary_aphakia Anterior segment dysgenesis;Congenital primary aphakia Supplemental_disease_name DISEASE_NAME:anti_d_isoimmunization_affecting_pregnancy Anti-D isoimmunization affecting pregnancy Supplemental_disease_name DISEASE_NAME:anti_sema4d_monoclonal_antibody_vx15_2503 Anti-SEMA4D Monoclonal Antibody VX15/2503 Supplemental_disease_name DISEASE_NAME:antichymotrypsin_bochum_1 ANTICHYMOTRYPSIN BOCHUM 1 Supplemental_disease_name DISEASE_NAME:antichymotrypsin_bonn_1 ANTICHYMOTRYPSIN BONN 1 Supplemental_disease_name DISEASE_NAME:antichymotrypsin_deficiency_alpha_1 Antichymotrypsin deficiency-alpha-1 Supplemental_disease_name DISEASE_NAME:antichymotrypsin_isehara_1 ANTICHYMOTRYPSIN ISEHARA 1 Supplemental_disease_name DISEASE_NAME:antichymotrypsin_isehara_2 ANTICHYMOTRYPSIN ISEHARA 2 Supplemental_disease_name DISEASE_NAME:antichymotrypsin_signal_peptide_polymorphism ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM Supplemental_disease_name DISEASE_NAME:antidepressant_drug_treatment_accelerated_response_to Antidepressant drug treatment, accelerated response to Supplemental_disease_name DISEASE_NAME:antigen_in_scianna_blood_group_system Antigen in Scianna blood group system Supplemental_disease_name DISEASE_NAME:antisocial_behavior_susceptibility_to Antisocial behavior, susceptibility to Supplemental_disease_name DISEASE_NAME:antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Supplemental_disease_name DISEASE_NAME:antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis_antley_bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis_congenital_adrenal_hyperplasia_due_to_cytochrome_p450_oxidoreductase_deficiency Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Supplemental_disease_name DISEASE_NAME:antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis_congenital_adrenal_hyperplasia_due_to_cytochrome_p450_oxidoreductase_deficiency Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Supplemental_disease_name DISEASE_NAME:antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis_congenital_adrenal_hyperplasia_due_to_cytochrome_p450_oxidoreductase_deficiency_antley_bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Supplemental_disease_name DISEASE_NAME:antley_bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Supplemental_disease_name DISEASE_NAME:antley_bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis_antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis_congenital_adrenal_hyperplasia_due_to_cytochrome_p450_oxidoreductase_deficiency Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Supplemental_disease_name DISEASE_NAME:antley_bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis_congenital_adrenal_hyperplasia_due_to_cytochrome_p450_oxidoreductase_deficiency_antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency;Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Supplemental_disease_name DISEASE_NAME:antxr1_related_disorder ANTXR1-related disorder Supplemental_disease_name DISEASE_NAME:antxr2_related_disorder ANTXR2-related disorder Supplemental_disease_name DISEASE_NAME:anxa11_related_disorder ANXA11-related disorder Supplemental_disease_name DISEASE_NAME:anxa1_related_disorder ANXA1-related disorder Supplemental_disease_name DISEASE_NAME:anxa5_related_disorder ANXA5-related disorder Supplemental_disease_name DISEASE_NAME:anxiety_abnormal_facial_shape_arachnoid_cyst_cerebral_palsy_intellectual_disability Anxiety;Abnormal facial shape;Arachnoid cyst;Cerebral palsy;Intellectual disability Supplemental_disease_name DISEASE_NAME:anxiety_intellectual_disability Anxiety;Intellectual disability Supplemental_disease_name DISEASE_NAME:aopep_related_disorder AOPEP-related disorder Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_10 Aortic aneurysm, familial thoracic 10 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_11_susceptibility_to Aortic aneurysm, familial thoracic 11, susceptibility to Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_12 Aortic aneurysm, familial thoracic 12 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_2 Aortic aneurysm, familial thoracic 2 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_4 Aortic aneurysm, familial thoracic 4 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_4_familial_thoracic_aortic_aneurysm_and_aortic_dissection Aortic aneurysm, familial thoracic 4;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_4_megacystis_microcolon_intestinal_hypoperistalsis_syndrome_2 Aortic aneurysm, familial thoracic 4;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_4_megacystis_microcolon_intestinal_hypoperistalsis_syndrome_2_visceral_myopathy_2 Aortic aneurysm, familial thoracic 4;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2;Visceral myopathy 2 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_4_visceral_myopathy_2 Aortic aneurysm, familial thoracic 4;Visceral myopathy 2 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_4_visceral_myopathy_2_megacystis_microcolon_intestinal_hypoperistalsis_syndrome_2 Aortic aneurysm, familial thoracic 4;Visceral myopathy 2;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_6 Aortic aneurysm, familial thoracic 6 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_6_moyamoya_disease_5_multisystemic_smooth_muscle_dysfunction_syndrome Aortic aneurysm, familial thoracic 6;Moyamoya disease 5;Multisystemic smooth muscle dysfunction syndrome Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_6_multisystemic_smooth_muscle_dysfunction_syndrome_congenital_aneurysm_of_ascending_aorta_moyamoya_disease_5_moyamoya_disease Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome;Congenital aneurysm of ascending aorta;Moyamoya disease 5;Moyamoya disease Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_6_multisystemic_smooth_muscle_dysfunction_syndrome_moyamoya_disease_5 Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_7 Aortic aneurysm, familial thoracic 7 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_7_megacystis_microcolon_intestinal_hypoperistalsis_syndrome_1 Aortic aneurysm, familial thoracic 7;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_8 Aortic aneurysm, familial thoracic 8 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_9 Aortic aneurysm, familial thoracic 9 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_smad3_related Aortic aneurysm, familial thoracic, SMAD3 related Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_tgfb2_related Aortic aneurysm, familial thoracic, TGFB2 related Supplemental_disease_name DISEASE_NAME:aortic_arch_interruption Aortic arch interruption Supplemental_disease_name DISEASE_NAME:aortic_valve_disease_1_adams_oliver_syndrome_5 Aortic valve disease 1;Adams-Oliver syndrome 5 Supplemental_disease_name DISEASE_NAME:aortic_valve_disease_1_familial_thoracic_aortic_aneurysm_and_aortic_dissection Aortic valve disease 1;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:aortic_valve_disease_2_craniosynostosis_7 Aortic valve disease 2;Craniosynostosis 7 Supplemental_disease_name DISEASE_NAME:aortic_valve_disease_2_radioulnar_synostosis Aortic valve disease 2;Radioulnar synostosis Supplemental_disease_name DISEASE_NAME:aortic_valve_disease_2_radioulnar_synostosis_nonsyndromic_susceptibility_to_craniosynostosis_7 Aortic valve disease 2;Radioulnar synostosis, nonsyndromic, susceptibility to;Craniosynostosis 7 Supplemental_disease_name DISEASE_NAME:aortic_valve_disorder_adams_oliver_syndrome_2 Aortic valve disorder;Adams-Oliver syndrome 2 Supplemental_disease_name DISEASE_NAME:aortic_valve_disorder_adams_oliver_syndrome_5 Aortic valve disorder;Adams-Oliver syndrome 5 Supplemental_disease_name DISEASE_NAME:aortic_valve_disorder_congenital_heart_disease_adams_oliver_syndrome_5 Aortic valve disorder;Congenital heart disease;Adams-Oliver syndrome 5 Supplemental_disease_name DISEASE_NAME:ap1b1_related_disorder AP1B1-related disorder Supplemental_disease_name DISEASE_NAME:ap1g1_related_disorder AP1G1-related disorder Supplemental_disease_name DISEASE_NAME:ap1g2_related_disorder AP1G2-related disorder Supplemental_disease_name DISEASE_NAME:ap1s1_related_disorder AP1S1-related disorder Supplemental_disease_name DISEASE_NAME:ap1s2_related_disorder AP1S2-related disorder Supplemental_disease_name DISEASE_NAME:ap1s3_related_disorder AP1S3-related disorder Supplemental_disease_name DISEASE_NAME:ap2m1_related_disorder AP2M1-related disorder Supplemental_disease_name DISEASE_NAME:ap2s1_related_disorder AP2S1-related disorder Supplemental_disease_name DISEASE_NAME:ap3b1_related_disorder AP3B1-related disorder Supplemental_disease_name DISEASE_NAME:ap3b2_related_disorder AP3B2-related disorder Supplemental_disease_name DISEASE_NAME:ap3d1_related_disorder AP3D1-related disorder Supplemental_disease_name DISEASE_NAME:ap4b1_related_disorder AP4B1-related disorder Supplemental_disease_name DISEASE_NAME:ap4e1_related_disorder AP4E1-related disorder Supplemental_disease_name DISEASE_NAME:ap4m1_related_disorder AP4M1-related disorder Supplemental_disease_name DISEASE_NAME:ap4s1_related_disorder AP4S1-related disorder Supplemental_disease_name DISEASE_NAME:ap5b1_associated_macular_dystrophy AP5B1-associated macular dystrophy Supplemental_disease_name DISEASE_NAME:ap5z1_related_disorder AP5Z1-related disorder Supplemental_disease_name DISEASE_NAME:apaf1_related_disorder APAF1-related disorder Supplemental_disease_name DISEASE_NAME:apba2_related_disorder APBA2-related disorder Supplemental_disease_name DISEASE_NAME:apbb1_related_disorder APBB1-related disorder Supplemental_disease_name DISEASE_NAME:apc2_related_disorder APC2-related disorder Supplemental_disease_name DISEASE_NAME:apc_associated_polyposis APC associated polyposis Supplemental_disease_name DISEASE_NAME:apc_associated_polyposis_disorders APC-Associated Polyposis Disorders Supplemental_disease_name DISEASE_NAME:apc_mutation_negative_familial_colorectal_cancer APC-mutation negative familial colorectal cancer Supplemental_disease_name DISEASE_NAME:apc_related_attenuated_familial_adenomatous_polyposis APC-related attenuated familial adenomatous polyposis Supplemental_disease_name DISEASE_NAME:apc_related_attenuated_familial_adenomatous_polyposis_gardner_syndrome APC-related attenuated familial adenomatous polyposis;Gardner syndrome Supplemental_disease_name DISEASE_NAME:apc_related_disorder APC-related disorder Supplemental_disease_name DISEASE_NAME:apc_related_polyposis APC-related polyposis Supplemental_disease_name DISEASE_NAME:apcdd1_related_disorder APCDD1-related disorder Supplemental_disease_name DISEASE_NAME:apex1_related_disorder APEX1-related disorder Supplemental_disease_name DISEASE_NAME:aph1a_related_disorder APH1A-related disorder Supplemental_disease_name DISEASE_NAME:aplasia_cutis_congenita Aplasia cutis congenita Supplemental_disease_name DISEASE_NAME:aplasia_cutis_enamel_dysplasia_syndrome Aplasia cutis-enamel dysplasia syndrome Supplemental_disease_name DISEASE_NAME:aplasia_hypoplasia_of_the_corpus_callosum_seizure_atypical_behavior_moderate_global_developmental_delay Aplasia/Hypoplasia of the corpus callosum;Seizure;Atypical behavior;Moderate global developmental delay Supplemental_disease_name DISEASE_NAME:aplasia_of_the_nose_short_chin_midface_retrusion Aplasia of the nose;Short chin;Midface retrusion Supplemental_disease_name DISEASE_NAME:aplasia_of_the_ovary Aplasia of the ovary Supplemental_disease_name DISEASE_NAME:aplasia_of_the_uterus Aplasia of the uterus Supplemental_disease_name DISEASE_NAME:aplastic_anemia_acute_lymphoid_leukemia_microcephaly_normal_intelligence_and_immunodeficiency Aplastic anemia;Acute lymphoid leukemia;Microcephaly, normal intelligence and immunodeficiency Supplemental_disease_name DISEASE_NAME:aplastic_anemia_familial_hemophagocytic_lymphohistiocytosis_2_lymphoma_non_hodgkin_familial Aplastic anemia;Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial Supplemental_disease_name DISEASE_NAME:aplastic_anemia_lymphoma_non_hodgkin_familial_familial_hemophagocytic_lymphohistiocytosis_2 Aplastic anemia;Lymphoma, non-Hodgkin, familial;Familial hemophagocytic lymphohistiocytosis 2 Supplemental_disease_name DISEASE_NAME:aplastic_anemia_microcephaly_normal_intelligence_and_immunodeficiency_acute_lymphoid_leukemia Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia Supplemental_disease_name DISEASE_NAME:aplastic_anemia_shwachman_diamond_syndrome_1 Aplastic anemia;Shwachman-Diamond syndrome 1 Supplemental_disease_name DISEASE_NAME:aplastic_anemia_susceptibility_to Aplastic anemia, susceptibility to Supplemental_disease_name DISEASE_NAME:apoa1_related_disorder APOA1-related disorder Supplemental_disease_name DISEASE_NAME:apoa2_related_disorder APOA2-related disorder Supplemental_disease_name DISEASE_NAME:apoa4_related_disorder APOA4-related disorder Supplemental_disease_name DISEASE_NAME:apoa5_related_disorder APOA5-related disorder Supplemental_disease_name DISEASE_NAME:apob_polymorphism_in_signal_peptide APOB POLYMORPHISM IN SIGNAL PEPTIDE Supplemental_disease_name DISEASE_NAME:apob_related_disorder APOB-related disorder Supplemental_disease_name DISEASE_NAME:apobec3b_related_condition APOBEC3B-related condition Supplemental_disease_name DISEASE_NAME:apoc2_related_disorder APOC2-related disorder Supplemental_disease_name DISEASE_NAME:apoc3_related_disorder APOC3-related disorder Supplemental_disease_name DISEASE_NAME:apocrine_gland_secretion_variation_in APOCRINE GLAND SECRETION, VARIATION IN Supplemental_disease_name DISEASE_NAME:apod_related_disorder APOD-related disorder Supplemental_disease_name DISEASE_NAME:apoe2_dunedin APOE2-DUNEDIN Supplemental_disease_name DISEASE_NAME:apoe2_variant APOE2 VARIANT Supplemental_disease_name DISEASE_NAME:apoe3_freiburg APOE3(-)-FREIBURG Supplemental_disease_name DISEASE_NAME:apoe4 APOE4(+) Supplemental_disease_name DISEASE_NAME:apoe4_variant APOE4 VARIANT Supplemental_disease_name DISEASE_NAME:apoe5_variant APOE5 VARIANT Supplemental_disease_name DISEASE_NAME:apoe_related_disorder APOE-related disorder Supplemental_disease_name DISEASE_NAME:apoh_polymorphism APOH POLYMORPHISM Supplemental_disease_name DISEASE_NAME:apol1_associated_kidney_disease APOL1-associated kidney disease Supplemental_disease_name DISEASE_NAME:apol1_related_disorder APOL1-related disorder Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_i_baltimore APOLIPOPROTEIN A-I (BALTIMORE) Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_i_giessen APOLIPOPROTEIN A-I (GIESSEN) Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_i_marburg APOLIPOPROTEIN A-I (MARBURG) Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_i_milano APOLIPOPROTEIN A-I (MILANO) Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_i_munster3b APOLIPOPROTEIN A-I (MUNSTER3B) Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_i_munster3c APOLIPOPROTEIN A-I (MUNSTER3C) Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_i_munster4 APOLIPOPROTEIN A-I (MUNSTER4) Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_i_norway APOLIPOPROTEIN A-I (NORWAY) Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_ii_amyloidosis Apolipoprotein A-II amyloidosis Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_ii_deficiency APOLIPOPROTEIN A-II DEFICIENCY Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_iv_polymorphism_apoa4_1_apoa4_2 APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_iv_rare_variant_apoa4_0 APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 Supplemental_disease_name DISEASE_NAME:apolipoprotein_a_iv_rare_variant_apoa4_3 APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3 Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_african APOLIPOPROTEIN C-II (AFRICAN) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_auckland APOLIPOPROTEIN C-II (AUCKLAND) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_bari APOLIPOPROTEIN C-II (BARI) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_hamburg APOLIPOPROTEIN C-II (HAMBURG) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_padova APOLIPOPROTEIN C-II (PADOVA) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_paris APOLIPOPROTEIN C-II (PARIS) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_san_francisco APOLIPOPROTEIN C-II (SAN FRANCISCO) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_st_michael APOLIPOPROTEIN C-II (ST. MICHAEL) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_toronto APOLIPOPROTEIN C-II (TORONTO) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_variant Apolipoprotein c-ii variant Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_ii_wakayama APOLIPOPROTEIN C-II (WAKAYAMA) Supplemental_disease_name DISEASE_NAME:apolipoprotein_c_iii_nonglycosylated Apolipoprotein C-III, nonglycosylated Supplemental_disease_name DISEASE_NAME:apoo_related_disorder APOO-related disorder Supplemental_disease_name DISEASE_NAME:app_polymorphism APP POLYMORPHISM Supplemental_disease_name DISEASE_NAME:app_related_disorder APP-related disorder Supplemental_disease_name DISEASE_NAME:apparent_mineralocorticoid_excess Apparent mineralocorticoid excess Supplemental_disease_name DISEASE_NAME:apparent_mineralocorticoid_excess_mild Apparent mineralocorticoid excess, mild Supplemental_disease_name DISEASE_NAME:appendicular_lean_mass_relative_to_body_height appendicular lean mass relative to body height Supplemental_disease_name DISEASE_NAME:appl1_related_disorder APPL1-related disorder Supplemental_disease_name DISEASE_NAME:apraxia_seizure_speech_apraxia_moderate_intellectual_disability_chiari_malformation Apraxia;Seizure;Speech apraxia;Moderate intellectual disability;Chiari malformation Supplemental_disease_name DISEASE_NAME:aprg1_related_disorder APRG1-related disorder Supplemental_disease_name DISEASE_NAME:aprt_deficiency_japanese_type APRT deficiency, Japanese type Supplemental_disease_name DISEASE_NAME:aprt_related_disorder APRT-related disorder Supplemental_disease_name DISEASE_NAME:aps41_related_disorder APS41-related disorder Supplemental_disease_name DISEASE_NAME:aptx_related_disorder APTX-related disorder Supplemental_disease_name DISEASE_NAME:aqp1_related_disorder AQP1-related disorder Supplemental_disease_name DISEASE_NAME:aqp1_related_pulmonary_hypertension AQP1-related pulmonary hypertension Supplemental_disease_name DISEASE_NAME:aqp2_related_disorder AQP2-related disorder Supplemental_disease_name DISEASE_NAME:aqp2_related_nephrogenic_diabetes_insipidus AQP2-related nephrogenic diabetes insipidus Supplemental_disease_name DISEASE_NAME:aqp3_related_disorder AQP3-related disorder Supplemental_disease_name DISEASE_NAME:aqp4_related_disorder AQP4-related disorder Supplemental_disease_name DISEASE_NAME:aqp5_related_disorder AQP5-related disorder Supplemental_disease_name DISEASE_NAME:aqp7_related_condition AQP7-related condition Supplemental_disease_name DISEASE_NAME:aqr_related_condition AQR-related condition Supplemental_disease_name DISEASE_NAME:ar_related_disorder AR-related disorder Supplemental_disease_name DISEASE_NAME:arachnodactyly_mitral_valve_prolapse_pes_planus_aortic_aneurysm_lens_luxation Arachnodactyly;Mitral valve prolapse;Pes planus;Aortic aneurysm;Lens luxation Supplemental_disease_name DISEASE_NAME:arachnodactyly_twist1_related_craniosynostosis Arachnodactyly;TWIST1-related craniosynostosis Supplemental_disease_name DISEASE_NAME:araf_related_disorder ARAF-related disorder Supplemental_disease_name DISEASE_NAME:arcn1_related_disorder ARCN1-related disorder Supplemental_disease_name DISEASE_NAME:arf1_related_disorder ARF1-related disorder Supplemental_disease_name DISEASE_NAME:arf3_related_disorder ARF3-related disorder Supplemental_disease_name DISEASE_NAME:arfgap2_related_disorder ARFGAP2-related disorder Supplemental_disease_name DISEASE_NAME:arfgef1_related_disorder ARFGEF1-related disorder Supplemental_disease_name DISEASE_NAME:arfgef2_related_disorder ARFGEF2-related disorder Supplemental_disease_name DISEASE_NAME:arfgef3_related_disorder ARFGEF3-related disorder Supplemental_disease_name DISEASE_NAME:arg1_related_disorder ARG1-related disorder Supplemental_disease_name DISEASE_NAME:arginine_glycine_amidinotransferase_deficiency_fanconi_renotubular_syndrome_1 Arginine:glycine amidinotransferase deficiency;Fanconi renotubular syndrome 1 Supplemental_disease_name DISEASE_NAME:arglu1_related_disorder ARGLU1-related disorder Supplemental_disease_name DISEASE_NAME:argyrophilic_grain_disease Argyrophilic grain disease Supplemental_disease_name DISEASE_NAME:arhgap18_related_disorder ARHGAP18-related disorder Supplemental_disease_name DISEASE_NAME:arhgap1_related_condition ARHGAP1-related condition Supplemental_disease_name DISEASE_NAME:arhgap24_related_disorder ARHGAP24-related disorder Supplemental_disease_name DISEASE_NAME:arhgap25_related_condition ARHGAP25-related condition Supplemental_disease_name DISEASE_NAME:arhgap26_related_disorder ARHGAP26-related disorder Supplemental_disease_name DISEASE_NAME:arhgap28_related_disorder ARHGAP28-related disorder Supplemental_disease_name DISEASE_NAME:arhgap29_related_disorder ARHGAP29-related disorder Supplemental_disease_name DISEASE_NAME:arhgap31_related_disorder ARHGAP31-related disorder Supplemental_disease_name DISEASE_NAME:arhgap32_related_disorder ARHGAP32-related disorder Supplemental_disease_name DISEASE_NAME:arhgap35_related_condition ARHGAP35-related condition Supplemental_disease_name DISEASE_NAME:arhgap35_related_disorder ARHGAP35-related disorder Supplemental_disease_name DISEASE_NAME:arhgap44_related_disorder ARHGAP44-related disorder Supplemental_disease_name DISEASE_NAME:arhgap5_related_disorder ARHGAP5-related disorder Supplemental_disease_name DISEASE_NAME:arhgap6_related_disorder ARHGAP6-related disorder Supplemental_disease_name DISEASE_NAME:arhgdia_related_disorder ARHGDIA-related disorder Supplemental_disease_name DISEASE_NAME:arhgef10_related_disorder ARHGEF10-related disorder Supplemental_disease_name DISEASE_NAME:arhgef15_related_disorder ARHGEF15-related disorder Supplemental_disease_name DISEASE_NAME:arhgef18_related_disorder ARHGEF18-related disorder Supplemental_disease_name DISEASE_NAME:arhgef1_related_disorder ARHGEF1-related disorder Supplemental_disease_name DISEASE_NAME:arhgef28_related_disorder ARHGEF28-related disorder Supplemental_disease_name DISEASE_NAME:arhgef2_related_disorder ARHGEF2-related disorder Supplemental_disease_name DISEASE_NAME:arhgef40_related_disorder ARHGEF40 related disorder Supplemental_disease_name DISEASE_NAME:arhgef4_related_disorder ARHGEF4-related disorder Supplemental_disease_name DISEASE_NAME:arhgef6_associated_neurodevelopmental_disorder ARHGEF6-associated Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:arhgef6_related_disorder ARHGEF6-related disorder Supplemental_disease_name DISEASE_NAME:arhgef9_related_disorder ARHGEF9-related disorder Supplemental_disease_name DISEASE_NAME:arhgef9_related_neurodevelopmental_disorder ARHGEF9-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:arid1a_duplication_associated_intellectual_disability_syndrome ARID1A duplication associated intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:arid1a_related_bafopathy ARID1A-related BAFopathy Supplemental_disease_name DISEASE_NAME:arid1a_related_disorder ARID1A-related disorder Supplemental_disease_name DISEASE_NAME:arid1b_related_bafopathy ARID1B-related BAFopathy Supplemental_disease_name DISEASE_NAME:arid1b_related_disorder ARID1B-Related Disorder Supplemental_disease_name DISEASE_NAME:arid2_related_bafopathy ARID2-related BAFopathy Supplemental_disease_name DISEASE_NAME:arid2_related_disorder ARID2-related disorder Supplemental_disease_name DISEASE_NAME:arid5a_related_disorder ARID5A-related disorder Supplemental_disease_name DISEASE_NAME:arid5b_related_disorder ARID5B-related disorder Supplemental_disease_name DISEASE_NAME:arih1_related_disorder ARIH1-related disorder Supplemental_disease_name DISEASE_NAME:arl13b_related_disorder ARL13B-related disorder Supplemental_disease_name DISEASE_NAME:arl15_related_disorder ARL15-related disorder Supplemental_disease_name DISEASE_NAME:arl2_related_condition ARL2-related condition Supplemental_disease_name DISEASE_NAME:arl2bp_related_disorder ARL2BP-related disorder Supplemental_disease_name DISEASE_NAME:arl3_related_disorder ARL3-related disorder Supplemental_disease_name DISEASE_NAME:arl6_related_disorder ARL6-related disorder Supplemental_disease_name DISEASE_NAME:arl6ip1_related_disorder ARL6IP1-related disorder Supplemental_disease_name DISEASE_NAME:armc2_related_disorder ARMC2-related disorder Supplemental_disease_name DISEASE_NAME:armc3_related_disorder ARMC3-related disorder Supplemental_disease_name DISEASE_NAME:armc5_related_disorder ARMC5-related disorder Supplemental_disease_name DISEASE_NAME:armc9_related_disorder ARMC9-related disorder Supplemental_disease_name DISEASE_NAME:armc9_related_joubert_syndrome ARMC9-related Joubert syndrome Supplemental_disease_name DISEASE_NAME:armcx5_gprasp2_related_disorder ARMCX5-GPRASP2-related disorder Supplemental_disease_name DISEASE_NAME:armcx5_related_disorder ARMCX5-related disorder Supplemental_disease_name DISEASE_NAME:arms2_related_disorder ARMS2-related disorder Supplemental_disease_name DISEASE_NAME:arnt2_related_disorder ARNT2-related disorder Supplemental_disease_name DISEASE_NAME:aromatase_deficiency Aromatase deficiency Supplemental_disease_name DISEASE_NAME:aromatase_deficiency_aromatase_excess_syndrome Aromatase deficiency;Aromatase excess syndrome Supplemental_disease_name DISEASE_NAME:aromatase_deficiency_lethal_congenital_contracture_syndrome_11 Aromatase deficiency;Lethal congenital contracture syndrome 11 Supplemental_disease_name DISEASE_NAME:aromatase_excess_syndrome_aromatase_deficiency Aromatase excess syndrome;Aromatase deficiency Supplemental_disease_name DISEASE_NAME:arpc1b_related_disorder ARPC1B-related disorder Supplemental_disease_name DISEASE_NAME:arr3_related_disorder ARR3-related disorder Supplemental_disease_name DISEASE_NAME:arrdc4_related_condition ARRDC4-related condition Supplemental_disease_name DISEASE_NAME:arrhinia_with_choanal_atresia_and_microphthalmia_syndrome Arrhinia with choanal atresia and microphthalmia syndrome Supplemental_disease_name DISEASE_NAME:arrhinia_with_choanal_atresia_and_microphthalmia_syndrome_facioscapulohumeral_muscular_dystrophy_2 Arrhinia with choanal atresia and microphthalmia syndrome;Facioscapulohumeral muscular dystrophy 2 Supplemental_disease_name DISEASE_NAME:arrhythmia Arrhythmia Supplemental_disease_name DISEASE_NAME:arrhythmogenc_right_ventricular_cardiomyopathy Arrhythmogenc right ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_variable_ectodermal_abnormalities Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_arrhythmogenic_right_ventricular_dysplasia_8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_arrhythmogenic_right_ventricular_dysplasia_8_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_arrhythmogenic_right_ventricular_dysplasia_8_lethal_acantholytic_epidermolysis_bullosa_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_keratosis_palmoplantaris_striata_2 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8;Lethal acantholytic epidermolysis bullosa;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Keratosis palmoplantaris striata 2 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_dysplasia_8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_dysplasia_8_lethal_acantholytic_epidermolysis_bullosa_keratosis_palmoplantaris_striata_2 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular dysplasia 8;Lethal acantholytic epidermolysis bullosa;Keratosis palmoplantaris striata 2 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_lethal_acantholytic_epidermolysis_bullosa_keratosis_palmoplantaris_striata_2_arrhythmogenic_right_ventricular_dysplasia_8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Lethal acantholytic epidermolysis bullosa;Keratosis palmoplantaris striata 2;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_keratosis_palmoplantaris_striata_2_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_dysplasia_8_lethal_acantholytic_epidermolysis_bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Keratosis palmoplantaris striata 2;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular dysplasia 8;Lethal acantholytic epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_keratosis_palmoplantaris_striata_2_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_lethal_acantholytic_epidermolysis_bullosa_arrhythmogenic_right_ventricular_dysplasia_8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Keratosis palmoplantaris striata 2;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Lethal acantholytic epidermolysis bullosa;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_keratosis_palmoplantaris_striata_2_lethal_acantholytic_epidermolysis_bullosa_arrhythmogenic_right_ventricular_dysplasia_8_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Keratosis palmoplantaris striata 2;Lethal acantholytic epidermolysis bullosa;Arrhythmogenic right ventricular dysplasia 8;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_lethal_acantholytic_epidermolysis_bullosa_arrhythmogenic_right_ventricular_dysplasia_8_keratosis_palmoplantaris_striata_2_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Lethal acantholytic epidermolysis bullosa;Arrhythmogenic right ventricular dysplasia 8;Keratosis palmoplantaris striata 2;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_lethal_acantholytic_epidermolysis_bullosa_cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Lethal acantholytic epidermolysis bullosa;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_lethal_acantholytic_epidermolysis_bullosa_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_dysplasia_8_keratosis_palmoplantaris_striata_2 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Lethal acantholytic epidermolysis bullosa;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular dysplasia 8;Keratosis palmoplantaris striata 2 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_lethal_acantholytic_epidermolysis_bullosa_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_keratosis_palmoplantaris_striata_2_arrhythmogenic_right_ventricular_dysplasia_8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Lethal acantholytic epidermolysis bullosa;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Keratosis palmoplantaris striata 2;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_lethal_acantholytic_epidermolysis_bullosa_keratosis_palmoplantaris_striata_2_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_dysplasia_8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Lethal acantholytic epidermolysis bullosa;Keratosis palmoplantaris striata 2;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_disorders_timothy_syndrome arrhythmogenic disorders;Timothy syndrome Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_cardiomyopathy_amyloidosis Arrhythmogenic right ventricular cardiomyopathy;Amyloidosis Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_cardiomyopathy_brugada_syndrome Arrhythmogenic right ventricular cardiomyopathy;Brugada syndrome Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_cardiomyopathy_cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_cardiomyopathy_long_qt_syndrome Arrhythmogenic right ventricular cardiomyopathy;Long QT syndrome Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_cardiomyopathy_primary_dilated_cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_10_arrhythmogenic_right_ventricular_cardiomyopathy_dilated_cardiomyopathy_1bb Arrhythmogenic right ventricular dysplasia 10;Arrhythmogenic right ventricular cardiomyopathy;Dilated cardiomyopathy 1BB Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_10_dilated_cardiomyopathy_1bb Arrhythmogenic right ventricular dysplasia 10;Dilated cardiomyopathy 1BB Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_12_naxos_disease Arrhythmogenic right ventricular dysplasia 12;Naxos disease Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_1_rienhoff_syndrome Arrhythmogenic right ventricular dysplasia 1;Rienhoff syndrome Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_2_catecholaminergic_polymorphic_ventricular_tachycardia Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_2_catecholaminergic_polymorphic_ventricular_tachycardia_1 Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_2_catecholaminergic_polymorphic_ventricular_tachycardia_1_ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_2_ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome_catecholaminergic_polymorphic_ventricular_tachycardia_1 Arrhythmogenic right ventricular dysplasia 2;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome;Catecholaminergic polymorphic ventricular tachycardia 1 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_5_auditory_neuropathy_autosomal_dominant_3_emery_dreifuss_muscular_dystrophy_7_autosomal_dominant Arrhythmogenic right ventricular dysplasia 5;Auditory neuropathy, autosomal dominant 3;Emery-Dreifuss muscular dystrophy 7, autosomal dominant Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_5_emery_dreifuss_muscular_dystrophy_7_autosomal_dominant_auditory_neuropathy_autosomal_dominant_3 Arrhythmogenic right ventricular dysplasia 5;Emery-Dreifuss muscular dystrophy 7, autosomal dominant;Auditory neuropathy, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_8_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_8_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_8_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_lethal_acantholytic_epidermolysis_bullosa_keratosis_palmoplantaris_striata_2 Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Lethal acantholytic epidermolysis bullosa;Keratosis palmoplantaris striata 2 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_8_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Arrhythmogenic right ventricular dysplasia 8;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_9_hypertrophic_cardiomyopathy_1 Arrhythmogenic right ventricular dysplasia 9;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_familial_11_with_mild_palmoplantar_keratoderma_and_woolly_hair Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_familial_11_with_or_without_mild_palmoplantar_keratoderma ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_familial_14 Arrhythmogenic right ventricular dysplasia, familial, 14 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_familial_14_agenesis_of_corpus_callosum_cardiac_ocular_and_genital_syndrome Arrhythmogenic right ventricular dysplasia, familial, 14;Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Supplemental_disease_name DISEASE_NAME:arrhythmogenic_right_ventricular_dysplasia_familial_15 Arrhythmogenic right ventricular dysplasia, familial, 15 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_ventricular_cardiomyopathy Arrhythmogenic ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:arsa_related_disorder ARSA-related disorder Supplemental_disease_name DISEASE_NAME:arsb_related_disorder ARSB-related disorder Supplemental_disease_name DISEASE_NAME:arsd_related_disorder ARSD-related disorder Supplemental_disease_name DISEASE_NAME:arsf_related_disorder ARSF-related disorder Supplemental_disease_name DISEASE_NAME:arsg_related_disorder ARSG-related disorder Supplemental_disease_name DISEASE_NAME:arsh_related_condition ARSH-related condition Supplemental_disease_name DISEASE_NAME:arsi_related_disorder ARSI-related disorder Supplemental_disease_name DISEASE_NAME:arsk_related_disorder ARSK-related disorder Supplemental_disease_name DISEASE_NAME:arsl_related_disorder ARSL-related disorder Supplemental_disease_name DISEASE_NAME:art4_related_disorder ART4-related disorder Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_1 Arterial calcification, generalized, of infancy, 1 Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_1_hypophosphatemic_rickets_autosomal_recessive_2 Arterial calcification, generalized, of infancy, 1;Hypophosphatemic rickets, autosomal recessive, 2 Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_1_hypophosphatemic_rickets_autosomal_recessive_2_inherited_obesity_type_2_diabetes_mellitus_hypopigmentation_punctate_palmoplantar_keratoderma_syndrome Arterial calcification, generalized, of infancy, 1;Hypophosphatemic rickets, autosomal recessive, 2;Inherited obesity;Type 2 diabetes mellitus;Hypopigmentation-punctate palmoplantar keratoderma syndrome Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_1_obesity_type_2_diabetes_mellitus_hypophosphatemic_rickets_autosomal_recessive_2_hypopigmentation_punctate_palmoplantar_keratoderma_syndrome Arterial calcification, generalized, of infancy, 1;Obesity;Type 2 diabetes mellitus;Hypophosphatemic rickets, autosomal recessive, 2;Hypopigmentation-punctate palmoplantar keratoderma syndrome Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_1_type_2_diabetes_mellitus_hypophosphatemic_rickets_autosomal_recessive_2_hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_inherited_obesity Arterial calcification, generalized, of infancy, 1;Type 2 diabetes mellitus;Hypophosphatemic rickets, autosomal recessive, 2;Hypopigmentation-punctate palmoplantar keratoderma syndrome;Inherited obesity Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_1_type_2_diabetes_mellitus_hypophosphatemic_rickets_autosomal_recessive_2_hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_obesity Arterial calcification, generalized, of infancy, 1;Type 2 diabetes mellitus;Hypophosphatemic rickets, autosomal recessive, 2;Hypopigmentation-punctate palmoplantar keratoderma syndrome;Obesity Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_1_type_2_diabetes_mellitus_hypophosphatemic_rickets_autosomal_recessive_2_inherited_obesity_hypopigmentation_punctate_palmoplantar_keratoderma_syndrome Arterial calcification, generalized, of infancy, 1;Type 2 diabetes mellitus;Hypophosphatemic rickets, autosomal recessive, 2;Inherited obesity;Hypopigmentation-punctate palmoplantar keratoderma syndrome Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_2 Arterial calcification, generalized, of infancy, 2 Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_2_autosomal_recessive_inherited_pseudoxanthoma_elasticum Arterial calcification, generalized, of infancy, 2;Autosomal recessive inherited pseudoxanthoma elasticum Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_2_autosomal_recessive_inherited_pseudoxanthoma_elasticum_pseudoxanthoma_elasticum_forme_fruste Arterial calcification, generalized, of infancy, 2;Autosomal recessive inherited pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste Supplemental_disease_name DISEASE_NAME:arterial_calcification_generalized_of_infancy_2_pseudoxanthoma_elasticum_forme_fruste_autosomal_recessive_inherited_pseudoxanthoma_elasticum Arterial calcification, generalized, of infancy, 2;Pseudoxanthoma elasticum, forme fruste;Autosomal recessive inherited pseudoxanthoma elasticum Supplemental_disease_name DISEASE_NAME:arterial_dissection Arterial dissection Supplemental_disease_name DISEASE_NAME:arterial_dissection_thoracic_aortic_aneurysm Arterial dissection;Thoracic aortic aneurysm Supplemental_disease_name DISEASE_NAME:arterial_tortuosity Arterial tortuosity Supplemental_disease_name DISEASE_NAME:arterial_tortuosity_aneurysm_of_descending_aorta Arterial tortuosity;Aneurysm of descending aorta Supplemental_disease_name DISEASE_NAME:arterial_tortuosity_bone_fragility_syndrome Arterial tortuosity-bone fragility syndrome Supplemental_disease_name DISEASE_NAME:arteriohepatic_dysplasia_abnormal_heart_morphology Arteriohepatic dysplasia;Abnormal heart morphology Supplemental_disease_name DISEASE_NAME:arthralgia_muscle_weakness_myalgia_emg_myopathic_abnormalities Arthralgia;Muscle weakness;Myalgia;EMG: myopathic abnormalities Supplemental_disease_name DISEASE_NAME:arthritis_skin_rash_colitis_immunodeficiency Arthritis;Skin rash;Colitis;Immunodeficiency Supplemental_disease_name DISEASE_NAME:arthrogryphosis Arthrogryphosis Supplemental_disease_name DISEASE_NAME:arthrogryposis Arthrogryposis Supplemental_disease_name DISEASE_NAME:arthrogryposis_cleft_palate_craniosynostosis_and_impaired_intellectual_development Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Supplemental_disease_name DISEASE_NAME:arthrogryposis_cleft_palate_craniosynostosis_and_impaired_intellectual_development_developmental_and_epileptic_encephalopathy_91 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development;Developmental and epileptic encephalopathy 91 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_iia_11 Arthrogryposis, distal, IIa 11 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_iia_11_hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97_papillary_renal_cell_carcinoma_type_1_osteofibrous_dysplasia Arthrogryposis, distal, IIa 11;Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97;Papillary renal cell carcinoma type 1;Osteofibrous dysplasia Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_iia_11_hepatocellular_carcinoma_osteofibrous_dysplasia_autosomal_recessive_nonsyndromic_hearing_loss_97_papillary_renal_cell_carcinoma_type_1 Arthrogryposis, distal, IIa 11;Hepatocellular carcinoma;Osteofibrous dysplasia;Autosomal recessive nonsyndromic hearing loss 97;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_iia_11_hepatocellular_carcinoma_osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1_autosomal_recessive_nonsyndromic_hearing_loss_97 Arthrogryposis, distal, IIa 11;Hepatocellular carcinoma;Osteofibrous dysplasia;Papillary renal cell carcinoma type 1;Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_iia_11_osteofibrous_dysplasia_hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1_autosomal_recessive_nonsyndromic_hearing_loss_97 Arthrogryposis, distal, IIa 11;Osteofibrous dysplasia;Hepatocellular carcinoma;Papillary renal cell carcinoma type 1;Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_iia_11_osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1_autosomal_recessive_nonsyndromic_hearing_loss_97 Arthrogryposis, distal, IIa 11;Osteofibrous dysplasia;Papillary renal cell carcinoma type 1;Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_iia_11_papillary_renal_cell_carcinoma_type_1_autosomal_recessive_nonsyndromic_hearing_loss_97_osteofibrous_dysplasia_hepatocellular_carcinoma Arthrogryposis, distal, IIa 11;Papillary renal cell carcinoma type 1;Autosomal recessive nonsyndromic hearing loss 97;Osteofibrous dysplasia;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_12 Arthrogryposis, distal, type 12 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_1a Arthrogryposis, distal, type 1A Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_1a_congenital_myopathy_23 Arthrogryposis, distal, type 1A;Congenital myopathy 23 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_1b Arthrogryposis, distal, type 1B Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_1b_lethal_congenital_contracture_syndrome_4_myopathy_congenital_with_tremor Arthrogryposis, distal, type 1B;Lethal congenital contracture syndrome 4;Myopathy, congenital, with tremor Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_1c Arthrogryposis, distal, type 1C Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_2b2 Arthrogryposis, distal, type 2B2 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_2b3 Arthrogryposis, distal, type 2B3 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_2b3_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a_freeman_sheldon_syndrome Arthrogryposis, distal, type 2B3;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Freeman-Sheldon syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_2b3_freeman_sheldon_syndrome Arthrogryposis, distal, type 2B3;Freeman-Sheldon syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_2b4 Arthrogryposis, distal, type 2B4 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_with_impaired_proprioception_and_touch Arthrogryposis, distal, with impaired proprioception and touch Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_with_impaired_proprioception_and_touch_arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_gordon_syndrome_marden_walker_syndrome Arthrogryposis, distal, with impaired proprioception and touch;Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Gordon syndrome;Marden-Walker syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_with_impaired_proprioception_and_touch_arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_marden_walker_syndrome_gordon_syndrome Arthrogryposis, distal, with impaired proprioception and touch;Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Marden-Walker syndrome;Gordon syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_like_hand_anomaly_ankle_flexion_contracture_scoliosis Arthrogryposis-like hand anomaly;Ankle flexion contracture;Scoliosis Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita Arthrogryposis multiplex congenita Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_1_neurogenic_with_myelin_defect Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_3_myogenic_type Arthrogryposis multiplex congenita 3, myogenic type Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_3_myogenic_type_autosomal_recessive_ataxia_beauce_type Arthrogryposis multiplex congenita 3, myogenic type;Autosomal recessive ataxia, Beauce type Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_3_myogenic_type_autosomal_recessive_ataxia_beauce_type_emery_dreifuss_muscular_dystrophy_4_autosomal_dominant Arthrogryposis multiplex congenita 3, myogenic type;Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_3_myogenic_type_emery_dreifuss_muscular_dystrophy_4_autosomal_dominant_autosomal_recessive_ataxia_beauce_type Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_4_neurogenic_with_agenesis_of_the_corpus_callosum Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_5_early_onset_generalized_limb_onset_dystonia Arthrogryposis multiplex congenita 5;Early-onset generalized limb-onset dystonia Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_6_nemaline_myopathy_2 Arthrogryposis multiplex congenita 6;Nemaline myopathy 2 Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_7_x_linked Arthrogryposis multiplex congenita 7, X-linked Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_and_immunodeficiency Arthrogryposis Multiplex Congenita and Immunodeficiency Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_fetal_akinesia_deformation_sequence_1 Arthrogryposis multiplex congenita;Fetal akinesia deformation sequence 1 Supplemental_disease_name DISEASE_NAME:arthrogryposis_multiplex_congenita_with_neutropenia_and_early_respiratory_failure arthrogryposis multiplex congenita with neutropenia and early respiratory failure Supplemental_disease_name DISEASE_NAME:arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch_gordon_syndrome_marden_walker_syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Gordon syndrome;Marden-Walker syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch_marden_walker_syndrome_gordon_syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome;Gordon syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_gordon_syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Gordon syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_gordon_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch_marden_walker_syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Gordon syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_gordon_syndrome_marden_walker_syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Gordon syndrome;Marden-Walker syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_gordon_syndrome_marden_walker_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Gordon syndrome;Marden-Walker syndrome;Arthrogryposis, distal, with impaired proprioception and touch Supplemental_disease_name DISEASE_NAME:arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_marden_walker_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch_gordon_syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Marden-Walker syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Gordon syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_perthes_disease_and_upward_gaze_palsy Arthrogryposis, Perthes disease, and upward gaze palsy Supplemental_disease_name DISEASE_NAME:arthrogryposis_perthes_disease_and_upward_gaze_palsy_nek9_related_lethal_skeletal_dysplasia Arthrogryposis, Perthes disease, and upward gaze palsy;NEK9-related lethal skeletal dysplasia Supplemental_disease_name DISEASE_NAME:arthrogryposis_renal_dysfunction_and_cholestasis_1_cholestasis_progressive_familial_intrahepatic_12 Arthrogryposis, renal dysfunction, and cholestasis 1;Cholestasis, progressive familial intrahepatic, 12 Supplemental_disease_name DISEASE_NAME:arthrogryposis_renal_dysfunction_and_cholestasis_1_keratoderma_ichthyosis_deafness_syndrome_autosomal_recessive_cholestasis_progressive_familial_intrahepatic_12 Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12 Supplemental_disease_name DISEASE_NAME:arthrogryposis_syndrome Arthrogryposis syndrome Supplemental_disease_name DISEASE_NAME:arthrogryposis_with_renal_dysfunction_and_cholestasis_syndrome Arthrogryposis with renal dysfunction and cholestasis syndrome Supplemental_disease_name DISEASE_NAME:arts_syndrome_charcot_marie_tooth_disease_x_linked_recessive_5 Arts syndrome;Charcot-Marie-Tooth disease X-linked recessive 5 Supplemental_disease_name DISEASE_NAME:arts_syndrome_charcot_marie_tooth_disease_x_linked_recessive_5_hearing_loss_x_linked_1_phosphoribosylpyrophosphate_synthetase_superactivity Arts syndrome;Charcot-Marie-Tooth disease X-linked recessive 5;Hearing loss, X-linked 1;Phosphoribosylpyrophosphate synthetase superactivity Supplemental_disease_name DISEASE_NAME:arts_syndrome_hearing_loss_x_linked_1_charcot_marie_tooth_disease_x_linked_recessive_5_phosphoribosylpyrophosphate_synthetase_superactivity Arts syndrome;Hearing loss, X-linked 1;Charcot-Marie-Tooth disease X-linked recessive 5;Phosphoribosylpyrophosphate synthetase superactivity Supplemental_disease_name DISEASE_NAME:arv1_related_disorder ARV1-related disorder Supplemental_disease_name DISEASE_NAME:arx_associated_condition ARX-associated condition Supplemental_disease_name DISEASE_NAME:arx_related_disorder ARX-related disorder Supplemental_disease_name DISEASE_NAME:arylsulfatase_a_pseudodeficiency ARYLSULFATASE A PSEUDODEFICIENCY Supplemental_disease_name DISEASE_NAME:arylsulfatase_a_pseudodeficiency_intermediate ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE Supplemental_disease_name DISEASE_NAME:arylsulfatase_a_pseudodeficiency_severe ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE Supplemental_disease_name DISEASE_NAME:asah1_related_disorders ASAH1-related disorders Supplemental_disease_name DISEASE_NAME:asah1_related_sphingolipidosis ASAH1-related sphingolipidosis Supplemental_disease_name DISEASE_NAME:asb10_related_disorder ASB10-related disorder Supplemental_disease_name DISEASE_NAME:asb14_related_condition ASB14-related condition Supplemental_disease_name DISEASE_NAME:ascc1_related_disorder ASCC1-related disorder Supplemental_disease_name DISEASE_NAME:ascc3_associated_disorder ASCC3-associated disorder Supplemental_disease_name DISEASE_NAME:ascc3_related_disorder ASCC3-related disorder Supplemental_disease_name DISEASE_NAME:ascending_aortic_dissection Ascending aortic dissection Supplemental_disease_name DISEASE_NAME:ascending_tubular_aorta_aneurysm_bicuspid_aortic_valve Ascending tubular aorta aneurysm;Bicuspid aortic valve Supplemental_disease_name DISEASE_NAME:ascending_tubular_aorta_aneurysm_vascular_dilatation Ascending tubular aorta aneurysm;Vascular dilatation Supplemental_disease_name DISEASE_NAME:ascl1_related_disorder ASCL1-related disorder Supplemental_disease_name DISEASE_NAME:ash1l_related_disorder ASH1L-related disorder Supplemental_disease_name DISEASE_NAME:ash1l_related_neurodevelopmental_disorders ASH1L-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:asher ASHER Supplemental_disease_name DISEASE_NAME:asic5_related_disorder ASIC5-related disorder Supplemental_disease_name DISEASE_NAME:asip_related_condition ASIP-related condition Supplemental_disease_name DISEASE_NAME:asl_related_disorder ASL-related disorder Supplemental_disease_name DISEASE_NAME:asmt_related_disorder ASMT-related disorder Supplemental_disease_name DISEASE_NAME:asns_related_disorder ASNS-related disorder Supplemental_disease_name DISEASE_NAME:aspa_related_disorder ASPA-related disorder Supplemental_disease_name DISEASE_NAME:asparagine_synthetase_deficiency Asparagine synthetase deficiency Supplemental_disease_name DISEASE_NAME:aspartate_aminotransferase_serum_level_of_quantitative_trait_locus_1 ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:aspartylglucosaminuria_finnish_type ASPARTYLGLUCOSAMINURIA, FINNISH TYPE Supplemental_disease_name DISEASE_NAME:asperger_syndrome_x_linked_susceptibility_to_2 Asperger syndrome, X-linked, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:asperger_syndrome_x_linked_susceptibility_to_2_autism_susceptibility_to_x_linked_2 Asperger syndrome, X-linked, susceptibility to, 2;Autism, susceptibility to, X-linked 2 Supplemental_disease_name DISEASE_NAME:aspergillosis_susceptibility_to Aspergillosis, susceptibility to Supplemental_disease_name DISEASE_NAME:aspergillosis_susceptibility_to_familial_chronic_mucocutaneous_candidiasis Aspergillosis, susceptibility to;Familial chronic mucocutaneous candidiasis Supplemental_disease_name DISEASE_NAME:asph_related_disorder ASPH-related disorder Supplemental_disease_name DISEASE_NAME:asphyxiating_thoracic_dystrophy_4_nephronophthisis_12 Asphyxiating thoracic dystrophy 4;Nephronophthisis 12 Supplemental_disease_name DISEASE_NAME:asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4_nephronophthisis_13_spermatogenic_failure_72_senior_loken_syndrome_8 Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4;Nephronophthisis 13;Spermatogenic failure 72;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4_senior_loken_syndrome_8_nephronophthisis_13_spermatogenic_failure_72 Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Nephronophthisis 13;Spermatogenic failure 72 Supplemental_disease_name DISEASE_NAME:asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_cranioectodermal_dysplasia_4_senior_loken_syndrome_8 Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_cranioectodermal_dysplasia_4_senior_loken_syndrome_8_spermatogenic_failure_72 Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Spermatogenic failure 72 Supplemental_disease_name DISEASE_NAME:asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_cranioectodermal_dysplasia_4_spermatogenic_failure_72_senior_loken_syndrome_8 Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Cranioectodermal dysplasia 4;Spermatogenic failure 72;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_spermatogenic_failure_72_cranioectodermal_dysplasia_4_senior_loken_syndrome_8 Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Spermatogenic failure 72;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_spermatogenic_failure_72_senior_loken_syndrome_8_cranioectodermal_dysplasia_4 Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Spermatogenic failure 72;Senior-Loken syndrome 8;Cranioectodermal dysplasia 4 Supplemental_disease_name DISEASE_NAME:asphyxiating_thoracic_dystrophy_5_senior_loken_syndrome_8 Asphyxiating thoracic dystrophy 5;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:asplenia Asplenia Supplemental_disease_name DISEASE_NAME:aspm_related_disorder ASPM-related disorder Supplemental_disease_name DISEASE_NAME:aspn_related_disorder ASPN-related disorder Supplemental_disease_name DISEASE_NAME:asrgl1_related_disorder ASRGL1-related disorder Supplemental_disease_name DISEASE_NAME:ass1_related_disorder ASS1-related disorder Supplemental_disease_name DISEASE_NAME:associated_with_severe_covid_19_disease Associated with severe COVID-19 disease Supplemental_disease_name DISEASE_NAME:association_with_valproate_induced_liver_toxicity Association with valproate-induced liver toxicity Supplemental_disease_name DISEASE_NAME:aste1_related_disorder ASTE1-related disorder Supplemental_disease_name DISEASE_NAME:asthenoteratozoospermia Asthenoteratozoospermia Supplemental_disease_name DISEASE_NAME:asthma_and_nasal_polyps Asthma and nasal polyps Supplemental_disease_name DISEASE_NAME:asthma_aspirin_induced_susceptibility_to Asthma, aspirin-induced, susceptibility to Supplemental_disease_name DISEASE_NAME:asthma_diminished_response_to_antileukotriene_treatment_in Asthma, diminished response to antileukotriene treatment in Supplemental_disease_name DISEASE_NAME:asthma_nasal_polyps_and_aspirin_intolerance_immunodeficiency_88 Asthma, nasal polyps, and aspirin intolerance;Immunodeficiency 88 Supplemental_disease_name DISEASE_NAME:asthma_protection_against Asthma, protection against Supplemental_disease_name DISEASE_NAME:asthma_related_traits_susceptibility_to_1 Asthma-related traits, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:asthma_related_traits_susceptibility_to_2 Asthma-related traits, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:asthma_related_traits_susceptibility_to_5 Asthma-related traits, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:asthma_related_traits_susceptibility_to_7 Asthma-related traits, susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:astigmatism_long_fingers_joint_hypermobility_delayed_speech_and_language_development_motor_delay Astigmatism;Long fingers;Joint hypermobility;Delayed speech and language development;Motor delay Supplemental_disease_name DISEASE_NAME:astigmatism_premature_birth_abnormality_of_the_face_congenital_ocular_coloboma_patent_foramen_ovale Astigmatism;Premature birth;Abnormality of the face;Congenital ocular coloboma;Patent foramen ovale Supplemental_disease_name DISEASE_NAME:astn1_related_disorder ASTN1-related disorder Supplemental_disease_name DISEASE_NAME:astn2_related_disorder ASTN2-related disorder Supplemental_disease_name DISEASE_NAME:astrocytoma Astrocytoma Supplemental_disease_name DISEASE_NAME:astrocytoma_anaplastic Astrocytoma, anaplastic Supplemental_disease_name DISEASE_NAME:astrocytoma_astrocytoma_glioblastoma Astrocytoma/astrocytoma glioblastoma Supplemental_disease_name DISEASE_NAME:astrocytoma_idh_mutant Astrocytoma IDH-mutant Supplemental_disease_name DISEASE_NAME:astrocytoma_low_grade_somatic Astrocytoma, low-grade, somatic Supplemental_disease_name DISEASE_NAME:asxl1_related_disorder ASXL1-related disorder Supplemental_disease_name DISEASE_NAME:asxl2_related_disorder ASXL2-related disorder Supplemental_disease_name DISEASE_NAME:asymmetric_septal_hypertrophy Asymmetric septal hypertrophy Supplemental_disease_name DISEASE_NAME:atad1_related_disorder ATAD1-related disorder Supplemental_disease_name DISEASE_NAME:atad3_gene_cluster_related_condition ATAD3 gene cluster related condition Supplemental_disease_name DISEASE_NAME:atad3a_deficiency ATAD3A deficiency Supplemental_disease_name DISEASE_NAME:atad3a_related_condition ATAD3A-related condition Supplemental_disease_name DISEASE_NAME:atad3a_related_mitochondrial_disorders ATAD3A-related mitochondrial disorders Supplemental_disease_name DISEASE_NAME:atad5_related_disorder ATAD5-related disorder Supplemental_disease_name DISEASE_NAME:ataxia Ataxia Supplemental_disease_name DISEASE_NAME:ataxia_and_polyneuropathy_adult_onset Ataxia and polyneuropathy, adult-onset Supplemental_disease_name DISEASE_NAME:ataxia_early_onset_with_oculomotor_apraxia_and_hypoalbuminemia Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Supplemental_disease_name DISEASE_NAME:ataxia_friedreich_like_with_isolated_vitamin_e_deficiency ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY Supplemental_disease_name DISEASE_NAME:ataxia_hypogonadism_choroidal_dystrophy_syndrome_hereditary_spastic_paraplegia_39_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome_laurence_moon_syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome;Hereditary spastic paraplegia 39;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome;Laurence-Moon syndrome Supplemental_disease_name DISEASE_NAME:ataxia_hypogonadism_choroidal_dystrophy_syndrome_laurence_moon_syndrome_hereditary_spastic_paraplegia_39 Ataxia-hypogonadism-choroidal dystrophy syndrome;Laurence-Moon syndrome;Hereditary spastic paraplegia 39 Supplemental_disease_name DISEASE_NAME:ataxia_hypogonadism_choroidal_dystrophy_syndrome_laurence_moon_syndrome_hereditary_spastic_paraplegia_39_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome;Laurence-Moon syndrome;Hereditary spastic paraplegia 39;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Supplemental_disease_name DISEASE_NAME:ataxia_hypogonadism_choroidal_dystrophy_syndrome_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome_laurence_moon_syndrome_cerebellar_ataxia_hypogonadism_syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome;Laurence-Moon syndrome;Cerebellar ataxia-hypogonadism syndrome Supplemental_disease_name DISEASE_NAME:ataxia_intellectual_disability_oculomotor_apraxia_cerebellar_cysts_syndrome Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Supplemental_disease_name DISEASE_NAME:ataxia_intention_tremor_and_hypotonia_syndrome_childhood_onset Ataxia, intention tremor, and hypotonia syndrome, childhood-onset Supplemental_disease_name DISEASE_NAME:ataxia_intention_tremor_and_hypotonia_syndrome_childhood_onset_waardenburg_syndrome_type_4a Ataxia, intention tremor, and hypotonia syndrome, childhood-onset;Waardenburg syndrome type 4A Supplemental_disease_name DISEASE_NAME:ataxia_oculomotor_apraxia Ataxia-oculomotor apraxia Supplemental_disease_name DISEASE_NAME:ataxia_oculomotor_apraxia_syndrome Ataxia-oculomotor apraxia syndrome Supplemental_disease_name DISEASE_NAME:ataxia_oculomotor_apraxia_type_4 Ataxia - oculomotor apraxia type 4 Supplemental_disease_name DISEASE_NAME:ataxia_oculomotor_apraxia_type_4_charcot_marie_tooth_disease_type_2b2_microcephaly_seizures_and_developmental_delay Ataxia - oculomotor apraxia type 4;Charcot-Marie-Tooth disease type 2B2;Microcephaly, seizures, and developmental delay Supplemental_disease_name DISEASE_NAME:ataxia_oculomotor_apraxia_type_4_microcephaly_seizures_and_developmental_delay Ataxia - oculomotor apraxia type 4;Microcephaly, seizures, and developmental delay Supplemental_disease_name DISEASE_NAME:ataxia_oculomotor_apraxia_type_4_microcephaly_seizures_and_developmental_delay_charcot_marie_tooth_disease_type_2b2 Ataxia - oculomotor apraxia type 4;Microcephaly, seizures, and developmental delay;Charcot-Marie-Tooth disease type 2B2 Supplemental_disease_name DISEASE_NAME:ataxia_pancytopenia_syndrome Ataxia-pancytopenia syndrome Supplemental_disease_name DISEASE_NAME:ataxia_pancytopenia_syndrome_monosomy_7_myelodysplasia_and_leukemia_syndrome_1 Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1 Supplemental_disease_name DISEASE_NAME:ataxia_pancytopenia_syndrome_monosomy_7_myelodysplasia_and_leukemia_syndrome_1_spinocerebellar_ataxia_49 Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1;Spinocerebellar ataxia 49 Supplemental_disease_name DISEASE_NAME:ataxia_pancytopenia_syndrome_spinocerebellar_ataxia_49_monosomy_7_myelodysplasia_and_leukemia_syndrome_1 Ataxia-pancytopenia syndrome;Spinocerebellar ataxia 49;Monosomy 7 myelodysplasia and leukemia syndrome 1 Supplemental_disease_name DISEASE_NAME:ataxia_progressive_seizures_mental_deterioration_and_hearing_loss Ataxia, progressive seizures, mental deterioration, and hearing loss Supplemental_disease_name DISEASE_NAME:ataxia_spastic_childhood_onset_autosomal_recessive_with_optic_atrophy_and_intellectual_disability Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability Supplemental_disease_name DISEASE_NAME:ataxia_telangiectasi Ataxia telangiectasi Supplemental_disease_name DISEASE_NAME:ataxia_telangiectasia_like_disorder Ataxia-telangiectasia-like disorder Supplemental_disease_name DISEASE_NAME:ataxia_telangiectasia_syndrome Ataxia-telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:ataxia_telangiectasia_syndrome_breast_cancer_susceptibility_to Ataxia-telangiectasia syndrome;Breast cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:ataxia_telangiectasia_syndrome_familial_cancer_of_breast Ataxia-telangiectasia syndrome;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:ataxia_telangiectasia_syndrome_hereditary_cancer Ataxia-telangiectasia syndrome;Hereditary cancer Supplemental_disease_name DISEASE_NAME:ataxia_telangiectasia_syndrome_hereditary_cancer_predisposing_syndrome Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:ataxia_telangiectasia_syndrome_malignant_tumor_of_breast Ataxia-telangiectasia syndrome;Malignant tumor of breast Supplemental_disease_name DISEASE_NAME:ataxia_telangiectasia_without_immunodeficiency Ataxia-telangiectasia without immunodeficiency Supplemental_disease_name DISEASE_NAME:ataxia_with_dysarthria Ataxia with Dysarthria Supplemental_disease_name DISEASE_NAME:ataxia_with_isolated_vitamin_e_deficiency_and_retinitis_pigmentosa ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA Supplemental_disease_name DISEASE_NAME:ataxia_with_vitamin_e_deficiency Ataxia with vitamin E deficiency Supplemental_disease_name DISEASE_NAME:atcay_related_disorder ATCAY-related disorder Supplemental_disease_name DISEASE_NAME:ate1_related_disorder ATE1-related disorder Supplemental_disease_name DISEASE_NAME:atelectasis Atelectasis Supplemental_disease_name DISEASE_NAME:ateleiotic_dwarfism Ateleiotic dwarfism Supplemental_disease_name DISEASE_NAME:ateleiotic_dwarfism_autosomal_dominant_isolated_somatotropin_deficiency_isolated_growth_hormone_deficiency_type_ib_short_stature_due_to_growth_hormone_qualitative_anomaly Ateleiotic dwarfism;Autosomal dominant isolated somatotropin deficiency;Isolated growth hormone deficiency type IB;Short stature due to growth hormone qualitative anomaly Supplemental_disease_name DISEASE_NAME:ateleiotic_dwarfism_autosomal_dominant_isolated_somatotropin_deficiency_short_stature_due_to_growth_hormone_qualitative_anomaly_isolated_growth_hormone_deficiency_type_ib Ateleiotic dwarfism;Autosomal dominant isolated somatotropin deficiency;Short stature due to growth hormone qualitative anomaly;Isolated growth hormone deficiency type IB Supplemental_disease_name DISEASE_NAME:atelis_syndrome_1 Atelis syndrome 1 Supplemental_disease_name DISEASE_NAME:atelis_syndrome_2 Atelis syndrome 2 Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_i Atelosteogenesis type I Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_i_atelosteogenesis_type_iii_boomerang_dysplasia_spondylocarpotarsal_synostosis_syndrome_larsen_syndrome Atelosteogenesis type I;Atelosteogenesis type III;Boomerang dysplasia;Spondylocarpotarsal synostosis syndrome;Larsen syndrome Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_i_atelosteogenesis_type_iii_larsen_syndrome Atelosteogenesis type I;Atelosteogenesis type III;Larsen syndrome Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_i_boomerang_dysplasia_atelosteogenesis_type_iii_larsen_syndrome_spondylocarpotarsal_synostosis_syndrome Atelosteogenesis type I;Boomerang dysplasia;Atelosteogenesis type III;Larsen syndrome;Spondylocarpotarsal synostosis syndrome Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_i_boomerang_dysplasia_larsen_syndrome_atelosteogenesis_type_iii_spondylocarpotarsal_synostosis_syndrome Atelosteogenesis type I;Boomerang dysplasia;Larsen syndrome;Atelosteogenesis type III;Spondylocarpotarsal synostosis syndrome Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_i_boomerang_dysplasia_larsen_syndrome_spondylocarpotarsal_synostosis_syndrome_atelosteogenesis_type_iii Atelosteogenesis type I;Boomerang dysplasia;Larsen syndrome;Spondylocarpotarsal synostosis syndrome;Atelosteogenesis type III Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_i_spondylocarpotarsal_synostosis_syndrome_atelosteogenesis_type_iii_boomerang_dysplasia_larsen_syndrome Atelosteogenesis type I;Spondylocarpotarsal synostosis syndrome;Atelosteogenesis type III;Boomerang dysplasia;Larsen syndrome Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_ii Atelosteogenesis type II Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_ii_achondrogenesis_type_ib_diastrophic_dysplasia_multiple_epiphyseal_dysplasia_type_4 Atelosteogenesis type II;Achondrogenesis, type IB;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4 Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_ii_diastrophic_dysplasia_multiple_epiphyseal_dysplasia_type_4_achondrogenesis_type_ib Atelosteogenesis type II;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4;Achondrogenesis, type IB Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_iii Atelosteogenesis type III Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_iii_atelosteogenesis_type_i_boomerang_dysplasia_larsen_syndrome_spondylocarpotarsal_synostosis_syndrome Atelosteogenesis type III;Atelosteogenesis type I;Boomerang dysplasia;Larsen syndrome;Spondylocarpotarsal synostosis syndrome Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_iii_atelosteogenesis_type_i_boomerang_dysplasia_spondylocarpotarsal_synostosis_syndrome_larsen_syndrome Atelosteogenesis type III;Atelosteogenesis type I;Boomerang dysplasia;Spondylocarpotarsal synostosis syndrome;Larsen syndrome Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_iii_atelosteogenesis_type_i_spondylocarpotarsal_synostosis_syndrome_boomerang_dysplasia_larsen_syndrome Atelosteogenesis type III;Atelosteogenesis type I;Spondylocarpotarsal synostosis syndrome;Boomerang dysplasia;Larsen syndrome Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_iii_spondylocarpotarsal_synostosis_syndrome_larsen_syndrome Atelosteogenesis type III;Spondylocarpotarsal synostosis syndrome;Larsen syndrome Supplemental_disease_name DISEASE_NAME:atf3_related_disorder ATF3-related disorder Supplemental_disease_name DISEASE_NAME:atf6_related_disorder ATF6-related disorder Supplemental_disease_name DISEASE_NAME:atg16l1_related_disorder ATG16L1-related disorder Supplemental_disease_name DISEASE_NAME:atg2b_related_disorder ATG2B-related disorder Supplemental_disease_name DISEASE_NAME:atg4d_related_neurodevelopmental_condition ATG4D-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:atg5_related_disorder ATG5-related disorder Supplemental_disease_name DISEASE_NAME:atg7_related_disorder ATG7-related disorder Supplemental_disease_name DISEASE_NAME:athabaskan_brain_stem_dysgenesis_syndrome_abds Athabaskan Brain Stem Dysgenesis Syndrome (ABDS) Supplemental_disease_name DISEASE_NAME:athabaskan_severe_combined_immunodeficiency Athabaskan severe combined immunodeficiency Supplemental_disease_name DISEASE_NAME:atherogenesis Atherogenesis Supplemental_disease_name DISEASE_NAME:atherosclerosis_susceptibility_to Atherosclerosis, susceptibility to Supplemental_disease_name DISEASE_NAME:atic_related_disorder ATIC-related disorder Supplemental_disease_name DISEASE_NAME:atl1_related_disorder ATL1-related disorder Supplemental_disease_name DISEASE_NAME:atl1_related_spastic_paraplegia_recessive ATL1-related spastic paraplegia, recessive Supplemental_disease_name DISEASE_NAME:atl3_related_disorder ATL3-related disorder Supplemental_disease_name DISEASE_NAME:atm_related_cancer_predisposition ATM-related cancer predisposition Supplemental_disease_name DISEASE_NAME:atm_related_cancer_predisposition_ataxia_telangiectasia_syndrome ATM-related cancer predisposition;Ataxia-telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:atm_related_cancer_predisposition_syndrome ATM-related cancer predisposition syndrome Supplemental_disease_name DISEASE_NAME:atm_related_disorder ATM-related disorder Supplemental_disease_name DISEASE_NAME:atn1_deletion ATN1 deletion Supplemental_disease_name DISEASE_NAME:atn1_related_disorder ATN1-related disorder Supplemental_disease_name DISEASE_NAME:atoh1_related_disorder ATOH1-related disorder Supplemental_disease_name DISEASE_NAME:atoh7_related_condition ATOH7-related condition Supplemental_disease_name DISEASE_NAME:atopic_eczema_ichthyosis Atopic eczema;Ichthyosis Supplemental_disease_name DISEASE_NAME:atopic_eczema_increased_total_eosinophil_count_increased_circulating_ige_concentration Atopic eczema;Increased total eosinophil count;Increased circulating IgE concentration Supplemental_disease_name DISEASE_NAME:atorvastatin_response Atorvastatin response Supplemental_disease_name DISEASE_NAME:atorvastatin_response_efficacy atorvastatin response - Efficacy Supplemental_disease_name DISEASE_NAME:atorvastatin_response_metabolism_pk atorvastatin response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:atorvastatin_response_toxicity atorvastatin response - Toxicity Supplemental_disease_name DISEASE_NAME:atp10a_related_disorder ATP10A-related disorder Supplemental_disease_name DISEASE_NAME:atp10b_associated_developmental_disorder ATP10B-associated developmental disorder Supplemental_disease_name DISEASE_NAME:atp11a_related_disorder ATP11A-related disorder Supplemental_disease_name DISEASE_NAME:atp11c_related_disorder ATP11C-related disorder Supplemental_disease_name DISEASE_NAME:atp13a2_related_disorder ATP13A2-related disorder Supplemental_disease_name DISEASE_NAME:atp13a3_related_disorder ATP13A3-related disorder Supplemental_disease_name DISEASE_NAME:atp13a4_related_disorder ATP13A4-related disorder Supplemental_disease_name DISEASE_NAME:atp1a1_related_disorder ATP1A1-related disorder Supplemental_disease_name DISEASE_NAME:atp1a2_associated_neurological_disorder ATP1A2-associated neurological disorder Supplemental_disease_name DISEASE_NAME:atp1a2_related_disorder ATP1A2-related disorder Supplemental_disease_name DISEASE_NAME:atp1a3_associated_neurological_disorder ATP1A3-associated neurological disorder Supplemental_disease_name DISEASE_NAME:atp1a3_related_disorder ATP1A3-related disorder Supplemental_disease_name DISEASE_NAME:atp2a1_related_disorder ATP2A1-related disorder Supplemental_disease_name DISEASE_NAME:atp2a2_related_disorder ATP2A2-related disorder Supplemental_disease_name DISEASE_NAME:atp2a3_related_disorder ATP2A3-related disorder Supplemental_disease_name DISEASE_NAME:atp2b1_related_disorder ATP2B1-related disorder Supplemental_disease_name DISEASE_NAME:atp2b2_related_disorder ATP2B2-related disorder Supplemental_disease_name DISEASE_NAME:atp2b2_related_progressive_hearing_impairment ATP2B2-related Progressive hearing impairment Supplemental_disease_name DISEASE_NAME:atp2b3_related_disorder ATP2B3-related disorder Supplemental_disease_name DISEASE_NAME:atp2b4_related_disorder ATP2B4-related disorder Supplemental_disease_name DISEASE_NAME:atp2c1_related_disorder ATP2C1-related disorder Supplemental_disease_name DISEASE_NAME:atp2c2_related_disorder ATP2C2-related disorder Supplemental_disease_name DISEASE_NAME:atp5f1a_related_disorder ATP5F1A-related disorder Supplemental_disease_name DISEASE_NAME:atp5f1d_related_disorder ATP5F1D-related disorder Supplemental_disease_name DISEASE_NAME:atp5f1e_related_disorder ATP5F1E-related disorder Supplemental_disease_name DISEASE_NAME:atp5g3_associated_disorder ATP5G3-associated disorder Supplemental_disease_name DISEASE_NAME:atp5po_related_disorder ATP5PO-related disorder Supplemental_disease_name DISEASE_NAME:atp6ap1_related_disorder ATP6AP1-related disorder Supplemental_disease_name DISEASE_NAME:atp6ap2_related_disorder ATP6AP2-related disorder Supplemental_disease_name DISEASE_NAME:atp6v0a1_related_condition ATP6V0A1-related condition Supplemental_disease_name DISEASE_NAME:atp6v0a2_related_disorder ATP6V0A2-related disorder Supplemental_disease_name DISEASE_NAME:atp6v0a4_related_disorder ATP6V0A4-related disorder Supplemental_disease_name DISEASE_NAME:atp6v1a_related_disorder ATP6V1A-related disorder Supplemental_disease_name DISEASE_NAME:atp6v1b1_related_disorder ATP6V1B1-related disorder Supplemental_disease_name DISEASE_NAME:atp6v1b2_related_disorder ATP6V1B2-related disorder Supplemental_disease_name DISEASE_NAME:atp6v1b2_related_neurodevelopmental_disorders ATP6V1B2 related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:atp6v1e1_related_disorder ATP6V1E1-related disorder Supplemental_disease_name DISEASE_NAME:atp6voa2_related_disorder ATP6VOA2-related disorder Supplemental_disease_name DISEASE_NAME:atp7a_realted_disorder ATP7A-realted disorder Supplemental_disease_name DISEASE_NAME:atp7a_related_disorder ATP7A-related disorder Supplemental_disease_name DISEASE_NAME:atp7b_related_disorder ATP7B-related disorder Supplemental_disease_name DISEASE_NAME:atp8a2_related_disorder ATP8A2-related disorder Supplemental_disease_name DISEASE_NAME:atp8b1_related_disorder ATP8B1-related disorder Supplemental_disease_name DISEASE_NAME:atpaf2_related_disorder ATPAF2-related disorder Supplemental_disease_name DISEASE_NAME:atr_related_disorder ATR-related disorder Supplemental_disease_name DISEASE_NAME:atr_x_related_syndrome ATR-X-related syndrome Supplemental_disease_name DISEASE_NAME:atrial_conduction_disease Atrial conduction disease Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_atrial_flutter_tachycardia_abnormal_morphology_of_left_ventricular_trabeculae Atrial fibrillation;Atrial flutter;Tachycardia;Abnormal morphology of left ventricular trabeculae Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_cardiomyopathy Atrial fibrillation;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_cardiomyopathy_myocardial_fibrosis_hypertensive_disorder Atrial fibrillation;Cardiomyopathy;Myocardial fibrosis;Hypertensive disorder Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_1 Atrial fibrillation, familial, 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_10 Atrial fibrillation, familial, 10 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_10_ventricular_fibrillation_paroxysmal_familial_type_1_brugada_syndrome_1_long_qt_syndrome_3_dilated_cardiomyopathy_1e Atrial fibrillation, familial, 10;Ventricular fibrillation, paroxysmal familial, type 1;Brugada syndrome 1;Long QT syndrome 3;Dilated cardiomyopathy 1E Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_11 Atrial fibrillation, familial, 11 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_11_atrial_standstill_1 Atrial fibrillation, familial, 11;Atrial standstill 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_12 Atrial fibrillation, familial, 12 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_12_dilated_cardiomyopathy_1o Atrial fibrillation, familial, 12;Dilated cardiomyopathy 1O Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_12_dilated_cardiomyopathy_1o_hypertrichotic_osteochondrodysplasia_cantu_type Atrial fibrillation, familial, 12;Dilated cardiomyopathy 1O;Hypertrichotic osteochondrodysplasia Cantu type Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_12_dilated_cardiomyopathy_1o_hypertrichotic_osteochondrodysplasia_cantu_type_intellectual_disability_and_myopathy_syndrome Atrial fibrillation, familial, 12;Dilated cardiomyopathy 1O;Hypertrichotic osteochondrodysplasia Cantu type;Intellectual disability and myopathy syndrome Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_12_hypertrichotic_osteochondrodysplasia_cantu_type_dilated_cardiomyopathy_1o_intellectual_disability_and_myopathy_syndrome Atrial fibrillation, familial, 12;Hypertrichotic osteochondrodysplasia Cantu type;Dilated cardiomyopathy 1O;Intellectual disability and myopathy syndrome Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_12_intellectual_disability_and_myopathy_syndrome_dilated_cardiomyopathy_1o_hypertrichotic_osteochondrodysplasia_cantu_type Atrial fibrillation, familial, 12;Intellectual disability and myopathy syndrome;Dilated cardiomyopathy 1O;Hypertrichotic osteochondrodysplasia Cantu type Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_12_intellectual_disability_and_myopathy_syndrome_hypertrichotic_osteochondrodysplasia_cantu_type_dilated_cardiomyopathy_1o Atrial fibrillation, familial, 12;Intellectual disability and myopathy syndrome;Hypertrichotic osteochondrodysplasia Cantu type;Dilated cardiomyopathy 1O Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_13 Atrial fibrillation, familial, 13 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_13_brugada_syndrome_5 Atrial fibrillation, familial, 13;Brugada syndrome 5 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_13_brugada_syndrome_5_developmental_and_epileptic_encephalopathy_52_generalized_epilepsy_with_febrile_seizures_plus_type_1 Atrial fibrillation, familial, 13;Brugada syndrome 5;Developmental and epileptic encephalopathy, 52;Generalized epilepsy with febrile seizures plus, type 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_13_brugada_syndrome_5_generalized_epilepsy_with_febrile_seizures_plus_type_1_developmental_and_epileptic_encephalopathy_52 Atrial fibrillation, familial, 13;Brugada syndrome 5;Generalized epilepsy with febrile seizures plus, type 1;Developmental and epileptic encephalopathy, 52 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_13_developmental_and_epileptic_encephalopathy_52_generalized_epilepsy_with_febrile_seizures_plus_type_1_brugada_syndrome_5 Atrial fibrillation, familial, 13;Developmental and epileptic encephalopathy, 52;Generalized epilepsy with febrile seizures plus, type 1;Brugada syndrome 5 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_13_generalized_epilepsy_with_febrile_seizures_plus_type_1_developmental_and_epileptic_encephalopathy_52_brugada_syndrome_5 Atrial fibrillation, familial, 13;Generalized epilepsy with febrile seizures plus, type 1;Developmental and epileptic encephalopathy, 52;Brugada syndrome 5 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_14 Atrial fibrillation, familial, 14 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_15 Atrial fibrillation, familial, 15 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_16 Atrial fibrillation, familial, 16 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_17 Atrial fibrillation, familial, 17 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_18 Atrial fibrillation, familial, 18 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3 Atrial fibrillation, familial, 3 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_jervell_and_lange_nielsen_syndrome_1_long_qt_syndrome_1_short_qt_syndrome_type_2 Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2_long_qt_syndrome_1 Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2 Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_short_qt_syndrome_type_2_jervell_and_lange_nielsen_syndrome_1_long_qt_syndrome_1 Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_short_qt_syndrome_type_2_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1 Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2_beckwith_wiedemann_syndrome_long_qt_syndrome_1 Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2;Beckwith-Wiedemann syndrome;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2_long_qt_syndrome_1 Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_jervell_and_lange_nielsen_syndrome_short_qt_syndrome_type_2_long_qt_syndrome_1 Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome;Short QT syndrome type 2;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_long_qt_syndrome_1_beckwith_wiedemann_syndrome_short_qt_syndrome_type_2_jervell_and_lange_nielsen_syndrome_1 Atrial fibrillation, familial, 3;Long QT syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1_beckwith_wiedemann_syndrome_short_qt_syndrome_type_2 Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2 Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_long_qt_syndrome_1_short_qt_syndrome_type_2 Atrial fibrillation, familial, 3;Long QT syndrome 1;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_long_qt_syndrome_1_short_qt_syndrome_type_2_beckwith_wiedemann_syndrome_jervell_and_lange_nielsen_syndrome_1 Atrial fibrillation, familial, 3;Long QT syndrome 1;Short QT syndrome type 2;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_short_qt_syndrome_type_2_beckwith_wiedemann_syndrome_jervell_and_lange_nielsen_syndrome_1_long_qt_syndrome_1 Atrial fibrillation, familial, 3;Short QT syndrome type 2;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_short_qt_syndrome_type_2_beckwith_wiedemann_syndrome_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1 Atrial fibrillation, familial, 3;Short QT syndrome type 2;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_short_qt_syndrome_type_2_long_qt_syndrome_1 Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_short_qt_syndrome_type_2_long_qt_syndrome_1_beckwith_wiedemann_syndrome_jervell_and_lange_nielsen_syndrome_1 Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_3_short_qt_syndrome_type_2_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1 Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_4 Atrial fibrillation, familial, 4 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_4_long_qt_syndrome_6 Atrial fibrillation, familial, 4;Long QT syndrome 6 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_6 Atrial fibrillation, familial, 6 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_6_atrial_standstill_2 Atrial fibrillation, familial, 6;Atrial standstill 2 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_7 Atrial fibrillation, familial, 7 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_8 Atrial fibrillation, familial, 8 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_9 Atrial fibrillation, familial, 9 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_9_andersen_tawil_syndrome_short_qt_syndrome_type_3 Atrial fibrillation, familial, 9;Andersen Tawil syndrome;Short QT syndrome type 3 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_9_short_qt_syndrome_type_3_andersen_tawil_syndrome Atrial fibrillation, familial, 9;Short QT syndrome type 3;Andersen Tawil syndrome Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_long_qt_syndrome Atrial fibrillation;Long QT syndrome Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_somatic Atrial fibrillation, somatic Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_ventricular_tachycardia_congestive_heart_failure Atrial fibrillation;Ventricular tachycardia;Congestive heart failure Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_2_tetralogy_of_fallot_testicular_anomalies_with_or_without_congenital_heart_disease_ventricular_septal_defect_1_atrioventricular_septal_defect_4 Atrial septal defect 2;Tetralogy of Fallot;Testicular anomalies with or without congenital heart disease;Ventricular septal defect 1;Atrioventricular septal defect 4 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_2_tetralogy_of_fallot_ventricular_septal_defect_1_atrioventricular_septal_defect_4 Atrial septal defect 2;Tetralogy of Fallot;Ventricular septal defect 1;Atrioventricular septal defect 4 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_2_tetralogy_of_fallot_ventricular_septal_defect_1_atrioventricular_septal_defect_4_testicular_anomalies_with_or_without_congenital_heart_disease Atrial septal defect 2;Tetralogy of Fallot;Ventricular septal defect 1;Atrioventricular septal defect 4;Testicular anomalies with or without congenital heart disease Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_2_ventricular_septal_defect_1 Atrial septal defect 2;Ventricular septal defect 1 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_2_ventricular_septal_defect_1_atrioventricular_septal_defect_4 Atrial septal defect 2;Ventricular septal defect 1;Atrioventricular septal defect 4 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_2_ventricular_septal_defect_1_atrioventricular_septal_defect_4_testicular_anomalies_with_or_without_congenital_heart_disease_tetralogy_of_fallot Atrial septal defect 2;Ventricular septal defect 1;Atrioventricular septal defect 4;Testicular anomalies with or without congenital heart disease;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_2_ventricular_septal_defect_1_tetralogy_of_fallot_testicular_anomalies_with_or_without_congenital_heart_disease_atrioventricular_septal_defect_4 Atrial septal defect 2;Ventricular septal defect 1;Tetralogy of Fallot;Testicular anomalies with or without congenital heart disease;Atrioventricular septal defect 4 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to Atrial septal defect 3;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to Atrial septal defect 3;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1 Atrial septal defect 3;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_dilated_cardiomyopathy_1ee_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1 Atrial septal defect 3;Dilated cardiomyopathy 1EE;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee Atrial septal defect 3;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to Atrial septal defect 3;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14 Atrial septal defect 3;Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14 Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1 Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14 Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_5_dilated_cardiomyopathy_1r_hypertrophic_cardiomyopathy_11 Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_5_distal_arthrogryposis_dilated_cardiomyopathy_1r_left_ventricular_noncompaction_1_hypertrophic_cardiomyopathy_11 Atrial septal defect 5;Distal arthrogryposis;Dilated cardiomyopathy 1R;Left ventricular noncompaction 1;Hypertrophic cardiomyopathy 11 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_5_hypertrophic_cardiomyopathy_11_dilated_cardiomyopathy_1r Atrial septal defect 5;Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_7 Atrial septal defect 7 Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_9_atrioventricular_septal_defect_5_conotruncal_heart_malformations_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome_tetralogy_of_fallot Atrial septal defect 9;Atrioventricular septal defect 5;Conotruncal heart malformations;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_9_tetralogy_of_fallot_atrioventricular_septal_defect_5_conotruncal_heart_malformations_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome Atrial septal defect 9;Tetralogy of Fallot;Atrioventricular septal defect 5;Conotruncal heart malformations;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_abnormal_atrioventricular_conduction Atrial septal defect;Abnormal atrioventricular conduction Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_congenital_diaphragmatic_hernia Atrial septal defect;Congenital diaphragmatic hernia Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_ostium_secundum_type_stress_urinary_incontinence_rectal_prolapse_migraine_bicuspid_aortic_valve Atrial septal defect, ostium secundum type;Stress urinary incontinence;Rectal prolapse;Migraine;Bicuspid aortic valve Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_pyloric_stenosis_abnormal_facial_shape_choanal_atresia Atrial septal defect;Pyloric stenosis;Abnormal facial shape;Choanal atresia Supplemental_disease_name DISEASE_NAME:atrial_standstill Atrial standstill Supplemental_disease_name DISEASE_NAME:atrial_standstill_1_atrial_fibrillation_familial_11 Atrial standstill 1;Atrial fibrillation, familial, 11 Supplemental_disease_name DISEASE_NAME:atrial_standstill_1_chromosome_1q21_1_deletion_syndrome_atrial_fibrillation_familial_11 Atrial standstill 1;Chromosome 1q21.1 deletion syndrome;Atrial fibrillation, familial, 11 Supplemental_disease_name DISEASE_NAME:atrial_standstill_1_digenic ATRIAL STANDSTILL 1, DIGENIC Supplemental_disease_name DISEASE_NAME:atrial_standstill_2_atrial_fibrillation_familial_6 Atrial standstill 2;Atrial fibrillation, familial, 6 Supplemental_disease_name DISEASE_NAME:atrichia_with_papular_lesions_alopecia_universalis_congenita Atrichia with papular lesions;Alopecia universalis congenita Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_4 Atrioventricular septal defect 4 Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_4_tetralogy_of_fallot_ventricular_septal_defect_1_atrial_septal_defect_2 Atrioventricular septal defect 4;Tetralogy of Fallot;Ventricular septal defect 1;Atrial septal defect 2 Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_5 Atrioventricular septal defect 5 Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_5_atrial_septal_defect_9_conotruncal_heart_malformations_tetralogy_of_fallot_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome Atrioventricular septal defect 5;Atrial septal defect 9;Conotruncal heart malformations;Tetralogy of Fallot;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_and_common_atrioventricular_junction Atrioventricular septal defect and common atrioventricular junction Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_partial_with_heterotaxy_syndrome Atrioventricular septal defect, partial, with heterotaxy syndrome Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_somatic Atrioventricular septal defect, somatic Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_susceptibility_to_2 Atrioventricular septal defect, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:atrip_related_disorder ATRIP-related disorder Supplemental_disease_name DISEASE_NAME:atrn_related_disorder ATRN-related disorder Supplemental_disease_name DISEASE_NAME:atrophoderma_vermiculatum Atrophoderma vermiculatum Supplemental_disease_name DISEASE_NAME:atrophy_of_the_brain_and_cerebellum_sensorineural_hearing_loss_disorder_reduced_visual_acuity_ataxia Atrophy of the brain and cerebellum;Sensorineural hearing loss disorder;Reduced visual acuity;Ataxia Supplemental_disease_name DISEASE_NAME:atrx_related_disorder ATRX-related disorder Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_8 Attention deficit-hyperactivity disorder 8 Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_autistic_behavior Attention deficit hyperactivity disorder;Autistic behavior Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_autistic_behavior_hypotonia_neurodevelopmental_delay Attention deficit hyperactivity disorder;Autistic behavior;Hypotonia;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_compulsive_behaviors_seizure_hearing_impairment Attention deficit hyperactivity disorder;Compulsive behaviors;Seizure;Hearing impairment Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_delayed_speech_and_language_development_spasticity_hypertensive_disorder_moderate_intellectual_disability Attention deficit hyperactivity disorder;Delayed speech and language development;Spasticity;Hypertensive disorder;Moderate intellectual disability Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_failure_to_thrive_in_infancy Attention deficit hyperactivity disorder;Failure to thrive in infancy Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_intellectual_disability_hypotonia Attention deficit hyperactivity disorder;Intellectual disability;Hypotonia Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_reactive_attachment_disorder_oppositional_defiant_disorder Attention deficit hyperactivity disorder;reactive attachment disorder;Oppositional defiant disorder Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_sleep_wake_schedule_disorder_delayed_phase_type Attention deficit hyperactivity disorder;Sleep-wake schedule disorder, delayed phase type Supplemental_disease_name DISEASE_NAME:attention_deficit_hyperactivity_disorder_susceptibility_to_7 Attention deficit-hyperactivity disorder, susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:attenuated_familial_adenomatous_polyposis Attenuated familial adenomatous polyposis Supplemental_disease_name DISEASE_NAME:attenuated_familial_adenomatous_polyposis_familial_adenomatous_polyposis_1 Attenuated familial adenomatous polyposis;Familial adenomatous polyposis 1 Supplemental_disease_name DISEASE_NAME:attenuated_familial_adenomatous_polyposis_familial_adenomatous_polyposis_1_gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach Attenuated familial adenomatous polyposis;Familial adenomatous polyposis 1;Gastric adenocarcinoma and proximal polyposis of the stomach Supplemental_disease_name DISEASE_NAME:attenuated_familial_adenomatous_polyposis_gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach_familial_adenomatous_polyposis_1 Attenuated familial adenomatous polyposis;Gastric adenocarcinoma and proximal polyposis of the stomach;Familial adenomatous polyposis 1 Supplemental_disease_name DISEASE_NAME:attenuated_frontometaphyseal_dysplasia Attenuated frontometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:attrv122i_amyloidosis ATTRV122I amyloidosis Supplemental_disease_name DISEASE_NAME:atxn10_related_disorder ATXN10-related disorder Supplemental_disease_name DISEASE_NAME:atxn1_related_disorder ATXN1-related disorder Supplemental_disease_name DISEASE_NAME:atxn2_related_disorder ATXN2-related disorder Supplemental_disease_name DISEASE_NAME:atxn3_related_disorder ATXN3-related disorder Supplemental_disease_name DISEASE_NAME:atxn7_related_disorder ATXN7-related disorder Supplemental_disease_name DISEASE_NAME:atxn8os_related_disorder ATXN8OS-related disorder Supplemental_disease_name DISEASE_NAME:atypical_behavior Atypical behavior Supplemental_disease_name DISEASE_NAME:atypical_behavior_bilateral_ptosis_neurodevelopmental_delay Atypical behavior;Bilateral ptosis;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:atypical_behavior_delayed_speech_and_language_development Atypical behavior;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:atypical_behavior_dystonic_disorder Atypical behavior;Dystonic disorder Supplemental_disease_name DISEASE_NAME:atypical_behavior_impaired_visuospatial_constructive_cognition_mild_global_developmental_delay Atypical behavior;Impaired visuospatial constructive cognition;Mild global developmental delay Supplemental_disease_name DISEASE_NAME:atypical_behavior_intellectual_disability_spastic_paraplegia Atypical behavior;Intellectual disability;Spastic paraplegia Supplemental_disease_name DISEASE_NAME:atypical_behavior_overgrowth Atypical behavior;Overgrowth Supplemental_disease_name DISEASE_NAME:atypical_behavior_sleep_disturbance_decreased_head_circumference_global_developmental_delay Atypical behavior;Sleep disturbance;Decreased head circumference;Global developmental delay Supplemental_disease_name DISEASE_NAME:atypical_cerebral_palsy Atypical cerebral palsy Supplemental_disease_name DISEASE_NAME:atypical_coarctation_of_aorta Atypical coarctation of aorta Supplemental_disease_name DISEASE_NAME:atypical_endometrial_hyperplasia Atypical endometrial hyperplasia Supplemental_disease_name DISEASE_NAME:atypical_endometrial_hyperplasia_endometrial_hyperplasia_without_atypia Atypical endometrial hyperplasia;Endometrial hyperplasia without atypia Supplemental_disease_name DISEASE_NAME:atypical_glycine_encephalopathy Atypical glycine encephalopathy Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_age_related_macular_degeneration_4 Atypical hemolytic-uremic syndrome;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_age_related_macular_degeneration_4_factor_h_deficiency Atypical hemolytic-uremic syndrome;Age related macular degeneration 4;Factor H deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_basal_laminar_drusen Atypical hemolytic-uremic syndrome;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_basal_laminar_drusen_age_related_macular_degeneration_4_factor_h_deficiency Atypical hemolytic-uremic syndrome;Basal laminar drusen;Age related macular degeneration 4;Factor H deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_basal_laminar_drusen_factor_h_deficiency Atypical hemolytic-uremic syndrome;Basal laminar drusen;Factor H deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_basal_laminar_drusen_factor_h_deficiency_age_related_macular_degeneration_4 Atypical hemolytic-uremic syndrome;Basal laminar drusen;Factor H deficiency;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_c3_glomerulonephritis Atypical hemolytic-uremic syndrome;C3 glomerulonephritis Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_c3_glomerulonephritis_complement_component_3_deficiency Atypical hemolytic-uremic syndrome;C3 glomerulonephritis;Complement component 3 deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_complement_component_3_deficiency_c3_glomerulonephritis Atypical hemolytic-uremic syndrome;Complement component 3 deficiency;C3 glomerulonephritis Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_factor_h_deficiency Atypical hemolytic-uremic syndrome;Factor H deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_factor_h_deficiency_age_related_macular_degeneration_4_basal_laminar_drusen Atypical hemolytic-uremic syndrome;Factor H deficiency;Age related macular degeneration 4;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_mesangiocapillary_glomerulonephritis Atypical hemolytic-uremic syndrome;Mesangiocapillary glomerulonephritis Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_b_factor_anomaly Atypical hemolytic-uremic syndrome with B factor anomaly Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_b_factor_anomaly_age_related_macular_degeneration_14_complement_factor_b_deficiency Atypical hemolytic-uremic syndrome with B factor anomaly;Age related macular degeneration 14;Complement factor b deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_b_factor_anomaly_complement_factor_b_deficiency_age_related_macular_degeneration_14 Atypical hemolytic-uremic syndrome with B factor anomaly;Complement factor b deficiency;Age related macular degeneration 14 Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_c3_anomaly Atypical hemolytic-uremic syndrome with C3 anomaly Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_c3_anomaly_age_related_macular_degeneration_9_complement_component_3_deficiency Atypical hemolytic-uremic syndrome with C3 anomaly;Age related macular degeneration 9;Complement component 3 deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_c3_anomaly_complement_component_3_deficiency Atypical hemolytic-uremic syndrome with C3 anomaly;Complement component 3 deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_c3_anomaly_complement_component_3_deficiency_age_related_macular_degeneration_9 Atypical hemolytic-uremic syndrome with C3 anomaly;Complement component 3 deficiency;Age related macular degeneration 9 Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_dgke_deficiency Atypical hemolytic-uremic syndrome with DGKE deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly Atypical hemolytic-uremic syndrome with I factor anomaly Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly_age_related_macular_degeneration_13_factor_i_deficiency Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13;Factor I deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly_factor_i_deficiency Atypical hemolytic-uremic syndrome with I factor anomaly;Factor I deficiency Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly_factor_i_deficiency_age_related_macular_degeneration_13 Atypical hemolytic-uremic syndrome with I factor anomaly;Factor I deficiency;Age related macular degeneration 13 Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_mcp_cd46_anomaly Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_thrombomodulin_anomaly Atypical hemolytic-uremic syndrome with thrombomodulin anomaly Supplemental_disease_name DISEASE_NAME:atypical_hemolytic_uremic_syndrome_with_thrombomodulin_anomaly_thrombomodulin_related_bleeding_disorder Atypical hemolytic-uremic syndrome with thrombomodulin anomaly;Thrombomodulin-related bleeding disorder Supplemental_disease_name DISEASE_NAME:atypical_leigh_syndrome Atypical Leigh syndrome Supplemental_disease_name DISEASE_NAME:atypical_retinitis_pigmentosa Atypical retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:atypical_rubinstein_taybi Atypical Rubinstein-Taybi Supplemental_disease_name DISEASE_NAME:atypical_severe_combined_immunodeficiency_due_to_complete_rag1_2_deficiency_recombinase_activating_gene_2_deficiency_inborn_error_of_immunity Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency;Recombinase activating gene 2 deficiency;Inborn error of immunity Supplemental_disease_name DISEASE_NAME:au_kline_syndrome Au-Kline syndrome Supplemental_disease_name DISEASE_NAME:auberger_blood_group_polymorphism_au_a_au_b AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b) Supplemental_disease_name DISEASE_NAME:auditory_neuropathy Auditory neuropathy Supplemental_disease_name DISEASE_NAME:auditory_neuropathy_autosomal_dominant_2 Auditory neuropathy, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:auditory_neuropathy_autosomal_dominant_3 Auditory neuropathy, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:auditory_neuropathy_autosomal_dominant_3_arrhythmogenic_right_ventricular_dysplasia_5_emery_dreifuss_muscular_dystrophy_7_autosomal_dominant Auditory neuropathy, autosomal dominant 3;Arrhythmogenic right ventricular dysplasia 5;Emery-Dreifuss muscular dystrophy 7, autosomal dominant Supplemental_disease_name DISEASE_NAME:auditory_neuropathy_autosomal_dominant_3_emery_dreifuss_muscular_dystrophy_7_autosomal_dominant_arrhythmogenic_right_ventricular_dysplasia_5 Auditory neuropathy, autosomal dominant 3;Emery-Dreifuss muscular dystrophy 7, autosomal dominant;Arrhythmogenic right ventricular dysplasia 5 Supplemental_disease_name DISEASE_NAME:auditory_neuropathy_autosomal_recessive_1 Auditory neuropathy, autosomal recessive, 1 Supplemental_disease_name DISEASE_NAME:auditory_neuropathy_optic_atrophy_syndrome Auditory neuropathy-optic atrophy syndrome Supplemental_disease_name DISEASE_NAME:auditory_neuropathy_spectrum_disorder Auditory neuropathy spectrum disorder Supplemental_disease_name DISEASE_NAME:auh_related_disorder AUH-related disorder Supplemental_disease_name DISEASE_NAME:aural_atresia_congenital Aural atresia, congenital Supplemental_disease_name DISEASE_NAME:auriculocondylar_syndrome Auriculocondylar syndrome Supplemental_disease_name DISEASE_NAME:auriculocondylar_syndrome_1 Auriculocondylar syndrome 1 Supplemental_disease_name DISEASE_NAME:auriculocondylar_syndrome_2 Auriculocondylar syndrome 2 Supplemental_disease_name DISEASE_NAME:auriculocondylar_syndrome_2b Auriculocondylar syndrome 2B Supplemental_disease_name DISEASE_NAME:auriculocondylar_syndrome_2b_auriculocondylar_syndrome_2 Auriculocondylar syndrome 2B;Auriculocondylar syndrome 2 Supplemental_disease_name DISEASE_NAME:auriculocondylar_syndrome_3 Auriculocondylar syndrome 3 Supplemental_disease_name DISEASE_NAME:auriculocondylar_syndrome_4 Auriculocondylar syndrome 4 Supplemental_disease_name DISEASE_NAME:aurka_related_disorder AURKA-related disorder Supplemental_disease_name DISEASE_NAME:aurkb_related_disorder AURKB-related disorder Supplemental_disease_name DISEASE_NAME:aurkc_related_disorder AURKC-related disorder Supplemental_disease_name DISEASE_NAME:auroneurodental_syndrome Auroneurodental syndrome Supplemental_disease_name DISEASE_NAME:autism_actl6b_related_dominant_intellectual_disability Autism;ACTL6B-related dominant intellectual disability Supplemental_disease_name DISEASE_NAME:autism_and_apraxia Autism and apraxia Supplemental_disease_name DISEASE_NAME:autism_focal_onset_seizure_microcephaly Autism;Focal-onset seizure;Microcephaly Supplemental_disease_name DISEASE_NAME:autism_global_developmental_delay_cone_dystrophy Autism;Global developmental delay;Cone dystrophy Supplemental_disease_name DISEASE_NAME:autism_global_developmental_delay_seizure Autism;Global developmental delay;Seizure Supplemental_disease_name DISEASE_NAME:autism_intellectual_disability_abnormal_cerebral_white_matter_morphology Autism;Intellectual disability;Abnormal cerebral white matter morphology Supplemental_disease_name DISEASE_NAME:autism_intellectual_disability_seizure Autism;Intellectual disability;Seizure Supplemental_disease_name DISEASE_NAME:autism_iris_coloboma_delayed_speech_and_language_development_motor_delay_abnormality_of_vision Autism;Iris coloboma;Delayed speech and language development;Motor delay;Abnormality of vision Supplemental_disease_name DISEASE_NAME:autism_seizure Autism;Seizure Supplemental_disease_name DISEASE_NAME:autism_seizure_intellectual_disability Autism;Seizure;Intellectual disability Supplemental_disease_name DISEASE_NAME:autism_severe Autism, severe Supplemental_disease_name DISEASE_NAME:autism_spectrum_disorder_due_to_auts2_deficiency Autism spectrum disorder due to AUTS2 deficiency Supplemental_disease_name DISEASE_NAME:autism_spectrum_disorder_epilepsy_arthrogryposis_syndrome Autism spectrum disorder - epilepsy - arthrogryposis syndrome Supplemental_disease_name DISEASE_NAME:autism_spectrum_disorder_epilepsy_with_myoclonic_atonic_seizures Autism spectrum disorder;Epilepsy with myoclonic atonic seizures Supplemental_disease_name DISEASE_NAME:autism_spectrum_disorder_tatton_brown_rahman_overgrowth_syndrome Autism spectrum disorder;Tatton-Brown-Rahman overgrowth syndrome Supplemental_disease_name DISEASE_NAME:autism_spectrum_disorder_with_intellectual_disability Autism Spectrum Disorder with Intellectual Disability Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_1 Autism, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_10 Autism, susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_15 Autism, susceptibility to, 15 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_15_cortical_dysplasia_focal_epilepsy_syndrome Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_16 Autism, susceptibility to, 16 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_17 Autism, susceptibility to, 17 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_19 Autism, susceptibility to, 19 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_20 Autism, susceptibility to, 20 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_9 Autism, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_1 Autism, susceptibility to, X-linked 1 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_2 Autism, susceptibility to, X-linked 2 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_2_asperger_syndrome_x_linked_susceptibility_to_2 Autism, susceptibility to, X-linked 2;Asperger syndrome, X-linked, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_3 Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_3_rett_syndrome_syndromic_x_linked_intellectual_disability_lubs_type_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly Autism, susceptibility to, X-linked 3;Rett syndrome;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome;Severe neonatal-onset encephalopathy with microcephaly Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_3_severe_neonatal_onset_encephalopathy_with_microcephaly_syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Autism, susceptibility to, X-linked 3;Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;Rett syndrome;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_3_severe_neonatal_onset_encephalopathy_with_microcephaly_syndromic_x_linked_intellectual_disability_lubs_type_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_rett_syndrome Autism, susceptibility to, X-linked 3;Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome;Rett syndrome Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_3_syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_3_syndromic_x_linked_intellectual_disability_lubs_type_severe_neonatal_onset_encephalopathy_with_microcephaly_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_rett_syndrome Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;Severe neonatal-onset encephalopathy with microcephaly;X-linked intellectual disability-psychosis-macroorchidism syndrome;Rett syndrome Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_3_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Autism, susceptibility to, X-linked 3;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_4 Autism, susceptibility to, X-linked 4 Supplemental_disease_name DISEASE_NAME:autism_susceptibility_to_x_linked_5 Autism, susceptibility to, X-linked 5 Supplemental_disease_name DISEASE_NAME:autism_susceptiblity_to Autism, susceptiblity to Supplemental_disease_name DISEASE_NAME:autism_syndrome Autism syndrome Supplemental_disease_name DISEASE_NAME:autism_with_high_cognitive_abilities Autism with high cognitive abilities Supplemental_disease_name DISEASE_NAME:autistic_behavior Autistic behavior Supplemental_disease_name DISEASE_NAME:autistic_behavior_abnormal_brainstem_mri_signal_intensity_delayed_fine_motor_development_severe_global_developmental_delay Autistic behavior;Abnormal brainstem MRI signal intensity;Delayed fine motor development;Severe global developmental delay Supplemental_disease_name DISEASE_NAME:autistic_behavior_attention_deficit_hyperactivity_disorder_delayed_fine_motor_development_moderate_global_developmental_delay Autistic behavior;Attention deficit hyperactivity disorder;Delayed fine motor development;Moderate global developmental delay Supplemental_disease_name DISEASE_NAME:autistic_behavior_attention_deficit_hyperactivity_disorder_moderate_global_developmental_delay_aggressive_behavior Autistic behavior;Attention deficit hyperactivity disorder;Moderate global developmental delay;Aggressive behavior Supplemental_disease_name DISEASE_NAME:autistic_behavior_intellectual_disability Autistic behavior;Intellectual disability Supplemental_disease_name DISEASE_NAME:autistic_behavior_moderate_global_developmental_delay Autistic behavior;Moderate global developmental delay Supplemental_disease_name DISEASE_NAME:autistic_behavior_neurodevelopmental_delay Autistic behavior;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:autistic_behavior_seizure Autistic behavior;Seizure Supplemental_disease_name DISEASE_NAME:autistic_behavior_seizure_atypical_behavior_intellectual_disability Autistic behavior;Seizure;Atypical behavior;Intellectual disability Supplemental_disease_name DISEASE_NAME:autistic_behavior_severe_global_developmental_delay Autistic behavior;Severe global developmental delay Supplemental_disease_name DISEASE_NAME:autistic_spectrum_disorder_with_isolated_skills Autistic spectrum disorder with isolated skills Supplemental_disease_name DISEASE_NAME:autoimmune_connective_tissue_disease_and_vasculitis Autoimmune connective tissue disease and vasculitis Supplemental_disease_name DISEASE_NAME:autoimmune_disease_multisystem_infantile_onset Autoimmune disease, multisystem, infantile-onset Supplemental_disease_name DISEASE_NAME:autoimmune_disease_multisystem_infantile_onset_2 Autoimmune disease, multisystem, infantile-onset, 2 Supplemental_disease_name DISEASE_NAME:autoimmune_disease_multisystem_infantile_onset_2_combined_immunodeficiency_due_to_zap70_deficiency Autoimmune disease, multisystem, infantile-onset, 2;Combined immunodeficiency due to ZAP70 deficiency Supplemental_disease_name DISEASE_NAME:autoimmune_disease_multisystem_infantile_onset_3 Autoimmune disease, multisystem, infantile-onset, 3 Supplemental_disease_name DISEASE_NAME:autoimmune_disease_multisystem_infantile_onset_5 Autoimmune disease, multisystem, infantile-onset, 5 Supplemental_disease_name DISEASE_NAME:autoimmune_disease_susceptibility_to_1 Autoimmune disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:autoimmune_disease_susceptibility_to_6 Autoimmune disease, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:autoimmune_disease_with_susceptibility_to_mycobacterium_tuberculosis Autoimmune disease with susceptibility to mycobacterium tuberculosis Supplemental_disease_name DISEASE_NAME:autoimmune_enteropathy_and_endocrinopathy_susceptibility_to_chronic_infections_syndrome_immunodeficiency_31b_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_stat1_deficiency Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome;Immunodeficiency 31B;Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Supplemental_disease_name DISEASE_NAME:autoimmune_enteropathy_and_endocrinopathy_susceptibility_to_chronic_infections_syndrome_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_stat1_deficiency_immunodeficiency_31b Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome;Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency;Immunodeficiency 31B Supplemental_disease_name DISEASE_NAME:autoimmune_hemolytic_anemia_autoimmune_thrombocytopenia Autoimmune hemolytic anemia;Autoimmune thrombocytopenia Supplemental_disease_name DISEASE_NAME:autoimmune_hemolytic_anemia_systemic_autoinflammation Autoimmune hemolytic anemia;Systemic autoinflammation Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_due_to_ctla4_haploinsufficiency Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_due_to_ctla4_haploinsufficiency_hashimoto_thyroiditis_systemic_lupus_erythematosus_type_1_diabetes_mellitus_12_celiac_disease_susceptibility_to_3 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency;Hashimoto thyroiditis;Systemic lupus erythematosus;Type 1 diabetes mellitus 12;Celiac disease, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_type_1 Autoimmune lymphoproliferative syndrome type 1 Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_type_1_lung_cancer Autoimmune lymphoproliferative syndrome type 1;Lung cancer Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_type_2a_gastric_cancer_lymphoma_non_hodgkin_familial Autoimmune lymphoproliferative syndrome type 2A;Gastric cancer;Lymphoma, non-Hodgkin, familial Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_type_2a_lymphoma_non_hodgkin_familial_gastric_cancer Autoimmune lymphoproliferative syndrome type 2A;Lymphoma, non-Hodgkin, familial;Gastric cancer Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_type_2a_neoplasm_of_stomach Autoimmune lymphoproliferative syndrome type 2A;Neoplasm of stomach Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_type_2b_familial_cancer_of_breast_hepatocellular_carcinoma_lung_cancer Autoimmune lymphoproliferative syndrome type 2B;Familial cancer of breast;Hepatocellular carcinoma;Lung cancer Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_type_iii_caused_by_mutation_in_prkcd Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Supplemental_disease_name DISEASE_NAME:autoimmune_lymphoproliferative_syndrome_with_defective_apoptosis Autoimmune lymphoproliferative syndrome with defective apoptosis Supplemental_disease_name DISEASE_NAME:autoimmune_polyglandular_syndrome_type_1_autosomal_dominant Autoimmune polyglandular syndrome type 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:autoimmune_polyglandular_syndrome_type_1_with_reversible_metaphyseal_dysplasia Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:autoimmune_thyroid_disease_susceptibility_to_3 Autoimmune thyroid disease, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:autoimmune_thyroid_disease_susceptibility_to_3_iodotyrosyl_coupling_defect Autoimmune thyroid disease, susceptibility to, 3;Iodotyrosyl coupling defect Supplemental_disease_name DISEASE_NAME:autoinflammation_and_autoimmunity_with_immune_dysregulation_1 Autoinflammation and autoimmunity with immune dysregulation 1 Supplemental_disease_name DISEASE_NAME:autoinflammation_and_autoimmunity_with_immune_dysregulation_2 Autoinflammation and autoimmunity with immune dysregulation 2 Supplemental_disease_name DISEASE_NAME:autoinflammation_immune_dysregulation_and_eosinophilia Autoinflammation, immune dysregulation, and eosinophilia Supplemental_disease_name DISEASE_NAME:autoinflammation_panniculitis_and_dermatosis_syndrome Autoinflammation, panniculitis, and dermatosis syndrome Supplemental_disease_name DISEASE_NAME:autoinflammation_panniculitis_and_dermatosis_syndrome_autosomal_dominant Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant Supplemental_disease_name DISEASE_NAME:autoinflammation_panniculitis_and_dermatosis_syndrome_autosomal_recessive Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:autoinflammation_plcg2_associated_antibody_deficiency_immune_dysregulation Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Supplemental_disease_name DISEASE_NAME:autoinflammation_plcg2_associated_antibody_deficiency_immune_dysregulation_familial_cold_autoinflammatory_syndrome_3 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation;Familial cold autoinflammatory syndrome 3 Supplemental_disease_name DISEASE_NAME:autoinflammation_with_arthritis_and_dyskeratosis Autoinflammation with arthritis and dyskeratosis Supplemental_disease_name DISEASE_NAME:autoinflammation_with_arthritis_and_dyskeratosis_corneal_intraepithelial_dyskeratosis_palmoplantar_hyperkeratosis_laryngeal_dyskeratosis_syndrome_vitiligo_associated_multiple_autoimmune_disease_susceptibility_1_respiratory_papillomatosis_juvenile_recurrent_congenital Autoinflammation with arthritis and dyskeratosis;Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Vitiligo-associated multiple autoimmune disease susceptibility 1;Respiratory papillomatosis, juvenile recurrent, congenital Supplemental_disease_name DISEASE_NAME:autoinflammation_with_arthritis_and_vasculitis Autoinflammation with arthritis and vasculitis Supplemental_disease_name DISEASE_NAME:autoinflammation_with_arthritis_and_vasculitis_encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_8_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_4 Autoinflammation with arthritis and vasculitis;Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8;Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Supplemental_disease_name DISEASE_NAME:autoinflammation_with_episodic_fever_and_immune_dysregulation Autoinflammation with episodic fever and immune dysregulation Supplemental_disease_name DISEASE_NAME:autoinflammation_with_episodic_fever_and_lymphadenopathy Autoinflammation with episodic fever and lymphadenopathy Supplemental_disease_name DISEASE_NAME:autoinflammation_with_episodic_fever_and_lymphadenopathy_immunodeficiency_57 Autoinflammation with episodic fever and lymphadenopathy;Immunodeficiency 57 Supplemental_disease_name DISEASE_NAME:autoinflammation_with_pulmonary_and_cutaneous_vasculitis Autoinflammation with pulmonary and cutaneous vasculitis Supplemental_disease_name DISEASE_NAME:autoinflammatory_disease_multisystem_with_immune_dysregulation_x_linked Autoinflammatory disease, multisystem, with immune dysregulation, X-linked Supplemental_disease_name DISEASE_NAME:autoinflammatory_disease_systemic_with_vasculitis Autoinflammatory disease, systemic, with vasculitis Supplemental_disease_name DISEASE_NAME:autoinflammatory_disease_x_linked Autoinflammatory disease, X-linked Supplemental_disease_name DISEASE_NAME:autoinflammatory_disease_x_linked_ectodermal_dysplasia_and_immunodeficiency_1_incontinentia_pigmenti_syndrome_immunodeficiency_33 Autoinflammatory disease, X-linked;Ectodermal dysplasia and immunodeficiency 1;Incontinentia pigmenti syndrome;Immunodeficiency 33 Supplemental_disease_name DISEASE_NAME:autoinflammatory_disease_x_linked_incontinentia_pigmenti_syndrome_ectodermal_dysplasia_and_immunodeficiency_1_immunodeficiency_33 Autoinflammatory disease, X-linked;Incontinentia pigmenti syndrome;Ectodermal dysplasia and immunodeficiency 1;Immunodeficiency 33 Supplemental_disease_name DISEASE_NAME:autoinflammatory_encephalopathy_due_to_ptpn1_haploinsufficiency Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency Supplemental_disease_name DISEASE_NAME:autoinflammatory_pancytopenia_syndrome_due_to_dnase2_deficiency Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Supplemental_disease_name DISEASE_NAME:autoinflammatory_syndrome Autoinflammatory syndrome Supplemental_disease_name DISEASE_NAME:autoinflammatory_syndrome_familial_behcet_like Autoinflammatory syndrome, familial, Behcet-like Supplemental_disease_name DISEASE_NAME:autoinflammatory_syndrome_familial_behcet_like_1 Autoinflammatory syndrome, familial, Behcet-like 1 Supplemental_disease_name DISEASE_NAME:autoinflammatory_syndrome_familial_without_immunodeficiency AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY Supplemental_disease_name DISEASE_NAME:autoinflammatory_syndrome_familial_x_linked_behcet_like_2 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 Supplemental_disease_name DISEASE_NAME:autoinflammatory_syndrome_with_immunodeficiency Autoinflammatory syndrome with immunodeficiency Supplemental_disease_name DISEASE_NAME:autonomic_nervous_system_dysfunction AUTONOMIC NERVOUS SYSTEM DYSFUNCTION Supplemental_disease_name DISEASE_NAME:autosomal_dominant_abcc8_related_disorders Autosomal dominant ABCC8-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_acan_related_disorders Autosomal dominant ACAN-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_actc1_related_disorders Autosomal dominant ACTC1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alpl_related_disorders Autosomal dominant ALPL-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome Autosomal dominant Alport syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome_alport_syndrome_3b_autosomal_recessive Autosomal dominant Alport syndrome;Alport syndrome 3b, autosomal recessive Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome_alport_syndrome_3b_autosomal_recessive_hematuria_benign_familial_2 Autosomal dominant Alport syndrome;Alport syndrome 3b, autosomal recessive;Hematuria, benign familial, 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome_autosomal_recessive_alport_syndrome Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome_autosomal_recessive_alport_syndrome_benign_familial_hematuria Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome;Benign familial hematuria Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome_autosomal_recessive_alport_syndrome_hematuria_benign_familial_1 Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome;Hematuria, benign familial, 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome_benign_familial_hematuria Autosomal dominant Alport syndrome;Benign familial hematuria Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome_benign_familial_hematuria_autosomal_recessive_alport_syndrome Autosomal dominant Alport syndrome;Benign familial hematuria;Autosomal recessive Alport syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome_hematuria_benign_familial_2 Autosomal dominant Alport syndrome;Hematuria, benign familial, 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_alport_syndrome_hematuria_benign_familial_2_alport_syndrome_3b_autosomal_recessive Autosomal dominant Alport syndrome;Hematuria, benign familial, 2;Alport syndrome 3b, autosomal recessive Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_abca1_related_disorders Autosomal dominant and autosomal recessive ABCA1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_alpl_related_disorders Autosomal dominant and autosomal recessive ALPL-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_cd46_related_disorders Autosomal dominant and autosomal recessive CD46-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_depdc5_related_disorders Autosomal dominant and autosomal recessive DEPDC5-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_flg_related_disorders Autosomal dominant and autosomal recessive FLG-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_mfn2_related_disorders Autosomal dominant and autosomal recessive MFN2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_naglu_related_disorders Autosomal dominant and autosomal recessive NAGLU-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_piezo2_related_disorders Autosomal dominant and autosomal recessive PIEZO2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_ryr1_related_disorders Autosomal dominant and autosomal recessive RYR1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_scn4a_related_disorders Autosomal dominant and autosomal recessive SCN4A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_stub1_related_disorders Autosomal dominant and autosomal recessive STUB1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_ttn_related_disorders Autosomal dominant and autosomal recessive TTN-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_and_autosomal_recessive_wfs1_related_disorders Autosomal dominant and autosomal recessive WFS1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_aplasia_and_myelodysplasia Autosomal dominant aplasia and myelodysplasia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_apoa5_related_disorders Autosomal dominant APOA5-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_arid1b_related_disorders Autosomal dominant ARID1B-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_atp1a2_related_disorders autosomal dominant ATP1A2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_atp1a3_related_disorders Autosomal dominant ATP1A3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_bard1_related_cancer_types Autosomal dominant BARD1-related cancer types Supplemental_disease_name DISEASE_NAME:autosomal_dominant_bard1_related_disorders Autosomal dominant BARD1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_best1_related_disorders Autosomal dominant BEST1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_bmp4_related_disorders Autosomal dominant BMP4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_brca2_related_cancer_types Autosomal dominant BRCA2-related cancer types Supplemental_disease_name DISEASE_NAME:autosomal_dominant_c19orf12_related_disorders Autosomal dominant C19orf12-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_cacna1a_related_disorders Autosomal dominant CACNA1A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_cacna1g_related_disorders Autosomal dominant CACNA1G-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_cancer_predisposition Autosomal dominant cancer predisposition Supplemental_disease_name DISEASE_NAME:autosomal_dominant_centronuclear_myopathy_arthrogryposis_multiplex_congenita Autosomal dominant centronuclear myopathy;Arthrogryposis multiplex congenita Supplemental_disease_name DISEASE_NAME:autosomal_dominant_centronuclear_myopathy_charcot_marie_tooth_disease_dominant_intermediate_b_fetal_akinesia_cerebral_and_retinal_hemorrhage_syndrome Autosomal dominant centronuclear myopathy;Charcot-Marie-Tooth disease dominant intermediate B;Fetal akinesia-cerebral and retinal hemorrhage syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_centronuclear_myopathy_fetal_akinesia_cerebral_and_retinal_hemorrhage_syndrome_charcot_marie_tooth_disease_dominant_intermediate_b Autosomal dominant centronuclear myopathy;Fetal akinesia-cerebral and retinal hemorrhage syndrome;Charcot-Marie-Tooth disease dominant intermediate B Supplemental_disease_name DISEASE_NAME:autosomal_dominant_centronuclear_myopathy_fetal_akinesia_cerebral_and_retinal_hemorrhage_syndrome_charcot_marie_tooth_disease_dominant_intermediate_b_autosomal_dominant_charcot_marie_tooth_disease_type_2m Autosomal dominant centronuclear myopathy;Fetal akinesia-cerebral and retinal hemorrhage syndrome;Charcot-Marie-Tooth disease dominant intermediate B;Autosomal dominant Charcot-Marie-Tooth disease type 2M Supplemental_disease_name DISEASE_NAME:autosomal_dominant_centronuclear_myopathy_malignant_hyperthermia_susceptibility_to_1_multiminicore_myopathy_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion Autosomal dominant centronuclear myopathy;Malignant hyperthermia, susceptibility to, 1;Multiminicore myopathy;Central core myopathy;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:autosomal_dominant_cerebellar_ataxia_deafness_and_narcolepsy_hereditary_sensory_neuropathy_deafness_dementia_syndrome Autosomal dominant cerebellar ataxia, deafness and narcolepsy;Hereditary sensory neuropathy-deafness-dementia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_cerebellar_ataxia_spinocerebellar_ataxia_type_14 Autosomal dominant cerebellar ataxia;Spinocerebellar ataxia type 14 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_charcot_marie_tooth_disease_type_2k Autosomal dominant Charcot-Marie-Tooth disease type 2K Supplemental_disease_name DISEASE_NAME:autosomal_dominant_charcot_marie_tooth_disease_type_2m Autosomal dominant Charcot-Marie-Tooth disease type 2M Supplemental_disease_name DISEASE_NAME:autosomal_dominant_charcot_marie_tooth_disease_type_2w Autosomal dominant Charcot-Marie-Tooth disease type 2W Supplemental_disease_name DISEASE_NAME:autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_with_contractures Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Supplemental_disease_name DISEASE_NAME:autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_with_contractures_spinal_muscular_atrophy_lower_extremity_predominant_2b_prenatal_onset_autosomal_dominant Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures;Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Supplemental_disease_name DISEASE_NAME:autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures_autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_with_contractures Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures;Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Supplemental_disease_name DISEASE_NAME:autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures_charcot_marie_tooth_disease_axonal_type_2o Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures;Charcot-Marie-Tooth disease axonal type 2O Supplemental_disease_name DISEASE_NAME:autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures_charcot_marie_tooth_disease_axonal_type_2o_intellectual_disability_autosomal_dominant_13 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures;Charcot-Marie-Tooth disease axonal type 2O;Intellectual disability, autosomal dominant 13 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures_intellectual_disability_autosomal_dominant_13 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures;Intellectual disability, autosomal dominant 13 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures_intellectual_disability_autosomal_dominant_13_charcot_marie_tooth_disease_axonal_type_2o Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures;Intellectual disability, autosomal dominant 13;Charcot-Marie-Tooth disease axonal type 2O Supplemental_disease_name DISEASE_NAME:autosomal_dominant_col11a1_related_disorders Autosomal dominant COL11A1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_col1a1_related_disorders Autosomal dominant COL1A1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_col1a1_related_osteogenesis_imperfecta autosomal dominant COL1A1-related osteogenesis imperfecta Supplemental_disease_name DISEASE_NAME:autosomal_dominant_col1a2_related_disorders Autosomal dominant COL1A2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_col2a1_related_disorders Autosomal dominant COL2A1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_col4a1_related_disorders Autosomal dominant COL4A1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_col4a4_related_disorders Autosomal dominant COL4A4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_col6a2_related_disorders Autosomal dominant COL6A2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_cone_dystrophy_with_early_tritanopia Autosomal dominant cone dystrophy with early tritanopia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_crebbp_related_disorders Autosomal dominant CREBBP-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_ctcf_related_disorders Autosomal dominant CTCF-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_deafness_onychodystrophy_syndrome Autosomal dominant deafness - onychodystrophy syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_deafness_onychodystrophy_syndrome_zimmermann_laband_syndrome_2 Autosomal dominant deafness - onychodystrophy syndrome;Zimmermann-Laband syndrome 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_des_related_disorders Autosomal dominant DES-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_dicer1_related_disorders Autosomal dominant DICER1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_dilated_cardiomyopathy_autosomal_dominant_myopathies_autosomal_recessive_myopathies autosomal dominant dilated cardiomyopathy;autosomal dominant myopathies;autosomal recessive myopathies Supplemental_disease_name DISEASE_NAME:autosomal_dominant_distal_renal_tubular_acidosis Autosomal dominant distal renal tubular acidosis Supplemental_disease_name DISEASE_NAME:autosomal_dominant_distal_renal_tubular_acidosis_renal_tubular_acidosis_distal_4_with_hemolytic_anemia Autosomal dominant distal renal tubular acidosis;Renal tubular acidosis, distal, 4, with hemolytic anemia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_distal_renal_tubular_acidosis_renal_tubular_acidosis_distal_4_with_hemolytic_anemia_hereditary_spherocytosis_type_4 Autosomal dominant distal renal tubular acidosis;Renal tubular acidosis, distal, 4, with hemolytic anemia;Hereditary spherocytosis type 4 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_dnmt3a_related_disorders Autosomal dominant DNMT3A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_dspp_related_disorders Autosomal dominant DSPP-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_epidermolytic_ichthyosis Autosomal dominant epidermolytic ichthyosis Supplemental_disease_name DISEASE_NAME:autosomal_dominant_epilepsy Autosomal dominant epilepsy Supplemental_disease_name DISEASE_NAME:autosomal_dominant_epilepsy_with_auditory_features Autosomal dominant epilepsy with auditory features Supplemental_disease_name DISEASE_NAME:autosomal_dominant_erf_related_disorders Autosomal dominant ERF-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_acute_myeloid_leukemia Autosomal dominant familial acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity_hemorrhage_intracerebral_susceptibility_to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_retinal_arterial_tortuosity_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies;Retinal arterial tortuosity;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_hemorrhage_intracerebral_susceptibility_to_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_hemorrhage_intracerebral_susceptibility_to_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_retinal_arterial_tortuosity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Brain small vessel disease 1 with or without ocular anomalies;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_hemorrhage_intracerebral_susceptibility_to_retinal_arterial_tortuosity_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Hemorrhage, intracerebral, susceptibility to;Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_hemorrhage_intracerebral_susceptibility_to_schizencephaly_retinal_arterial_tortuosity_brain_small_vessel_disease_1_with_or_without_ocular_anomalies Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Hemorrhage, intracerebral, susceptibility to;Schizencephaly;Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_retinal_arterial_tortuosity_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_retinal_arterial_tortuosity_hemorrhage_intracerebral_susceptibility_to_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_schizencephaly Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Retinal arterial tortuosity;Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 1 with or without ocular anomalies;Schizencephaly Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_retinal_arterial_tortuosity_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_hemorrhage_intracerebral_susceptibility_to Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Retinal arterial tortuosity;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:autosomal_dominant_familial_hypercholesterolemia Autosomal dominant familial hypercholesterolemia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_fbn1_related_disorders Autosomal dominant FBN1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_fgfr2_related_disorders Autosomal dominant FGFR2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_fgg_related_disorders Autosomal dominant FGG-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_flg_related_disorders Autosomal dominant FLG-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_fzd5_related_disorders Autosomal dominant FZD5-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_gabbr2_related_disorders Autosomal dominant GABBR2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_gata6_related_disorders Autosomal dominant GATA6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_gba1_related_disorders autosomal dominant GBA1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_gjb2_related_disorders Autosomal dominant GJB2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_gli2_related_disorders Autosomal dominant GLI2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_gnas_related_disorders Autosomal dominant GNAS-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_grin2b_related_disorders Autosomal dominant GRIN2B-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hereditary_axonal_motor_and_sensory_neuropathy Autosomal dominant hereditary axonal motor and sensory neuropathy Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hnf1a_related_disorders Autosomal dominant HNF1A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hnf1b_related_disorders Autosomal dominant HNF1B-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hoxd13_related_disorders Autosomal dominant HOXD13-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hyperinsulinism_due_to_sur1_deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_1_bartter_syndrome_with_hypocalcemia_neonatal_severe_primary_hyperparathyroidism_familial_hypocalciuric_hypercalcemia Autosomal dominant hypocalcemia 1;Bartter syndrome with hypocalcemia;Neonatal severe primary hyperparathyroidism;Familial hypocalciuric hypercalcemia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8_familial_hypocalciuric_hypercalcemia_1_neonatal_severe_primary_hyperparathyroidism Autosomal dominant hypocalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8;Familial hypocalciuric hypercalcemia 1;Neonatal severe primary hyperparathyroidism Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8_neonatal_severe_primary_hyperparathyroidism_familial_hypocalciuric_hypercalcemia_1 Autosomal dominant hypocalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8;Neonatal severe primary hyperparathyroidism;Familial hypocalciuric hypercalcemia 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_1_familial_hypocalciuric_hypercalcemia Autosomal dominant hypocalcemia 1;Familial hypocalciuric hypercalcemia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_1_familial_hypocalciuric_hypercalcemia_1 Autosomal dominant hypocalcemia 1;Familial hypocalciuric hypercalcemia 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_1_familial_hypocalciuric_hypercalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8_neonatal_severe_primary_hyperparathyroidism Autosomal dominant hypocalcemia 1;Familial hypocalciuric hypercalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8;Neonatal severe primary hyperparathyroidism Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_1_familial_hypocalciuric_hypercalcemia_1_neonatal_severe_primary_hyperparathyroidism_epilepsy_idiopathic_generalized_susceptibility_to_8 Autosomal dominant hypocalcemia 1;Familial hypocalciuric hypercalcemia 1;Neonatal severe primary hyperparathyroidism;Epilepsy, idiopathic generalized, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_1_neonatal_severe_primary_hyperparathyroidism_epilepsy_idiopathic_generalized_susceptibility_to_8_familial_hypocalciuric_hypercalcemia_1 Autosomal dominant hypocalcemia 1;Neonatal severe primary hyperparathyroidism;Epilepsy, idiopathic generalized, susceptibility to, 8;Familial hypocalciuric hypercalcemia 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_1_neonatal_severe_primary_hyperparathyroidism_familial_hypocalciuric_hypercalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8 Autosomal dominant hypocalcemia 1;Neonatal severe primary hyperparathyroidism;Familial hypocalciuric hypercalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypocalcemia_2_familial_hypocalciuric_hypercalcemia_2 Autosomal dominant hypocalcemia 2;Familial hypocalciuric hypercalcemia 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypohidrotic_ectodermal_dysplasia Autosomal dominant hypohidrotic ectodermal dysplasia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_hypophosphatemic_rickets_tumoral_calcinosis_hyperphosphatemic_familial_2 Autosomal dominant hypophosphatemic rickets;Tumoral calcinosis, hyperphosphatemic, familial, 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_ichthyosis_vulgaris Autosomal dominant ichthyosis vulgaris Supplemental_disease_name DISEASE_NAME:autosomal_dominant_ifih1_related_disorders Autosomal dominant IFIH1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_inf2_related_disorders Autosomal dominant INF2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_intermediate_charcot_marie_tooth_disease Autosomal dominant intermediate Charcot-Marie-Tooth disease Supplemental_disease_name DISEASE_NAME:autosomal_dominant_isolated_somatotropin_deficiency Autosomal dominant isolated somatotropin deficiency Supplemental_disease_name DISEASE_NAME:autosomal_dominant_kat6b_related_disorders Autosomal dominant KAT6B-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_kcnma1_related_disorders Autosomal dominant KCNMA1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_kcnq1_related_disease Autosomal dominant KCNQ1-related disease Supplemental_disease_name DISEASE_NAME:autosomal_dominant_kcnq2_related_disorders Autosomal dominant KCNQ2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_kenny_caffey_syndrome Autosomal dominant Kenny-Caffey syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_kenny_caffey_syndrome_osteocraniostenosis Autosomal dominant Kenny-Caffey syndrome;Osteocraniostenosis Supplemental_disease_name DISEASE_NAME:autosomal_dominant_keratitis_ichthyosis_hearing_loss_syndrome Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_keratitis_ichthyosis_hearing_loss_syndrome_ichthyosis_hystrix_like_with_hearing_loss Autosomal dominant keratitis-ichthyosis-hearing loss syndrome;Ichthyosis, hystrix-like, with hearing loss Supplemental_disease_name DISEASE_NAME:autosomal_dominant_kit_related_disorders Autosomal dominant KIT-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_kras_related_disorders Autosomal dominant KRAS-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_lamellar_ichthyosis Autosomal dominant lamellar ichthyosis Supplemental_disease_name DISEASE_NAME:autosomal_dominant_ldlr_related_disorders Autosomal dominant LDLR-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_lemd3_related_disorders Autosomal dominant LEMD3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_limb_girdle_muscular_dystrophy_type_1d_dnajb6 Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) Supplemental_disease_name DISEASE_NAME:autosomal_dominant_lmna_related_disorders autosomal dominant LMNA-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_lrp5_related_disorders Autosomal dominant LRP5-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_macrothrombocytopenia Autosomal dominant macrothrombocytopenia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_medullary_cystic_kidney_disease_with_or_without_hyperuricemia Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_2_lower_motor_neuron_syndrome_with_late_adult_onset Autosomal dominant mitochondrial myopathy with exercise intolerance;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Lower motor neuron syndrome with late-adult onset Supplemental_disease_name DISEASE_NAME:autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance_lower_motor_neuron_syndrome_with_late_adult_onset_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_2 Autosomal dominant mitochondrial myopathy with exercise intolerance;Lower motor neuron syndrome with late-adult onset;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_mpz_related_disorders Autosomal dominant MPZ-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_mybpc3_related_disorders Autosomal dominant MYBPC3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_myh3_related_disorders Autosomal dominant MYH3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_myh6_related_disorders Autosomal dominant MYH6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_myh7_related_disorder Autosomal dominant MYH7-related disorder Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nckap1_related_neurodevelopmental_disorder autosomal dominant NCKAP1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nf1_related_disorders Autosomal dominant NF1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nkx2_1_related_disorders Autosomal dominant NKX2-1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nocturnal_frontal_lobe_epilepsy_1_tobacco_addiction_susceptibility_to Autosomal dominant nocturnal frontal lobe epilepsy 1;Tobacco addiction, susceptibility to Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5_developmental_and_epileptic_encephalopathy_14 Autosomal dominant nocturnal frontal lobe epilepsy 5;Developmental and epileptic encephalopathy, 14 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5_malignant_migrating_partial_seizures_of_infancy Autosomal dominant nocturnal frontal lobe epilepsy 5;Malignant migrating partial seizures of infancy Supplemental_disease_name DISEASE_NAME:autosomal_dominant_non_syndromic_intellectual_disability Autosomal dominant non-syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:autosomal_dominant_non_syndromic_intellectual_disability_intellectual_disability_autosomal_dominant_56 Autosomal dominant non-syndromic intellectual disability;Intellectual disability, autosomal dominant 56 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_non_syndromic_intellectual_disability_poirier_bienvenu_neurodevelopmental_syndrome Autosomal dominant non-syndromic intellectual disability;Poirier-Bienvenu neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_impairment Autosomal dominant nonsyndromic hearing impairment Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss Autosomal dominant nonsyndromic hearing loss Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_1 Autosomal dominant nonsyndromic hearing loss 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_10 Autosomal dominant nonsyndromic hearing loss 10 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_10_dilated_cardiomyopathy_1j Autosomal dominant nonsyndromic hearing loss 10;Dilated cardiomyopathy 1J Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_11 Autosomal dominant nonsyndromic hearing loss 11 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_11_autosomal_recessive_nonsyndromic_hearing_loss_2_usher_syndrome_type_1 Autosomal dominant nonsyndromic hearing loss 11;Autosomal recessive nonsyndromic hearing loss 2;Usher syndrome type 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_11_usher_syndrome_type_1_autosomal_recessive_nonsyndromic_hearing_loss_2 Autosomal dominant nonsyndromic hearing loss 11;Usher syndrome type 1;Autosomal recessive nonsyndromic hearing loss 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_12 Autosomal dominant nonsyndromic hearing loss 12 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_12_autosomal_recessive_nonsyndromic_hearing_loss_21 Autosomal dominant nonsyndromic hearing loss 12;Autosomal recessive nonsyndromic hearing loss 21 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_13 Autosomal dominant nonsyndromic hearing loss 13 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_13_autosomal_recessive_nonsyndromic_hearing_loss_53 Autosomal dominant nonsyndromic hearing loss 13;Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_13_autosomal_recessive_nonsyndromic_hearing_loss_53_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_fibrochondrogenesis_2 Autosomal dominant nonsyndromic hearing loss 13;Autosomal recessive nonsyndromic hearing loss 53;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Fibrochondrogenesis 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_13_autosomal_recessive_nonsyndromic_hearing_loss_53_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_fibrochondrogenesis_2 Autosomal dominant nonsyndromic hearing loss 13;Autosomal recessive nonsyndromic hearing loss 53;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Fibrochondrogenesis 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_13_fibrochondrogenesis_2_autosomal_recessive_nonsyndromic_hearing_loss_53_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_otospondylomegaepiphyseal_dysplasia_autosomal_dominant Autosomal dominant nonsyndromic hearing loss 13;Fibrochondrogenesis 2;Autosomal recessive nonsyndromic hearing loss 53;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Otospondylomegaepiphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_recessive_nonsyndromic_hearing_loss_53 Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_fibrochondrogenesis_2_autosomal_recessive_nonsyndromic_hearing_loss_53 Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Fibrochondrogenesis 2;Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_recessive_nonsyndromic_hearing_loss_53_fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_dominant Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal recessive nonsyndromic hearing loss 53;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_fibrochondrogenesis_2_autosomal_recessive_nonsyndromic_hearing_loss_53 Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Fibrochondrogenesis 2;Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_15 Autosomal dominant nonsyndromic hearing loss 15 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_16 Autosomal dominant nonsyndromic hearing loss 16 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_17 Autosomal dominant nonsyndromic hearing loss 17 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_17_macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss Autosomal dominant nonsyndromic hearing loss 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_1_progressive_microcephaly_seizures_cortical_blindness_developmental_delay_syndrome Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_20 Autosomal dominant nonsyndromic hearing loss 20 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_20_baraitser_winter_syndrome_2 Autosomal dominant nonsyndromic hearing loss 20;Baraitser-winter syndrome 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_21 Autosomal dominant nonsyndromic hearing loss 21 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_21_autosomal_recessive_nonsyndromic_hearing_loss_104 Autosomal dominant nonsyndromic hearing loss 21;Autosomal recessive nonsyndromic hearing loss 104 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_22 Autosomal dominant nonsyndromic hearing loss 22 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_22_autosomal_recessive_nonsyndromic_hearing_loss_37 Autosomal dominant nonsyndromic hearing loss 22;Autosomal recessive nonsyndromic hearing loss 37 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_23 Autosomal dominant nonsyndromic hearing loss 23 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_23_branchiootic_syndrome_3 Autosomal dominant nonsyndromic hearing loss 23;Branchiootic syndrome 3 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_23_branchiootic_syndrome_3_branchiootorenal_syndrome_1 Autosomal dominant nonsyndromic hearing loss 23;Branchiootic syndrome 3;Branchiootorenal syndrome 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_23_branchiootorenal_syndrome_1_branchiootic_syndrome_3 Autosomal dominant nonsyndromic hearing loss 23;Branchiootorenal syndrome 1;Branchiootic syndrome 3 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_25 Autosomal dominant nonsyndromic hearing loss 25 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_27 Autosomal dominant nonsyndromic hearing loss 27 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_27_fibromatosis_gingival_5_wilms_tumor_6 Autosomal dominant nonsyndromic hearing loss 27;Fibromatosis, gingival, 5;Wilms tumor 6 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_27_wilms_tumor_6_fibromatosis_gingival_5 Autosomal dominant nonsyndromic hearing loss 27;Wilms tumor 6;Fibromatosis, gingival, 5 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_28 Autosomal dominant nonsyndromic hearing loss 28 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_28_corneal_dystrophy_posterior_polymorphous_4_nail_and_teeth_abnormalities_marginal_palmoplantar_keratoderma_oral_hyperpigmentation_syndrome Autosomal dominant nonsyndromic hearing loss 28;Corneal dystrophy, posterior polymorphous, 4;Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_2a Autosomal dominant nonsyndromic hearing loss 2A Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_2b Autosomal dominant nonsyndromic hearing loss 2B Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_2b_erythrokeratodermia_variabilis_et_progressiva_1_autosomal_recessive_nonsyndromic_hearing_loss_1a Autosomal dominant nonsyndromic hearing loss 2B;Erythrokeratodermia variabilis et progressiva 1;Autosomal recessive nonsyndromic hearing loss 1A Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_33 Autosomal dominant nonsyndromic hearing loss 33 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_36 Autosomal dominant nonsyndromic hearing loss 36 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_36_autosomal_recessive_nonsyndromic_hearing_loss_7 Autosomal dominant nonsyndromic hearing loss 36;Autosomal recessive nonsyndromic hearing loss 7 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_3a Autosomal dominant nonsyndromic hearing loss 3A Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_3a_autosomal_recessive_nonsyndromic_hearing_loss_1a Autosomal dominant nonsyndromic hearing loss 3A;Autosomal recessive nonsyndromic hearing loss 1A Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_3b Autosomal dominant nonsyndromic hearing loss 3B Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_3b_autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_recessive_nonsyndromic_hearing_loss_1b_hidrotic_ectodermal_dysplasia_syndrome Autosomal dominant nonsyndromic hearing loss 3B;Autosomal recessive nonsyndromic hearing loss 1A;Autosomal recessive nonsyndromic hearing loss 1B;Hidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_3b_autosomal_recessive_nonsyndromic_hearing_loss_1a_hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1b Autosomal dominant nonsyndromic hearing loss 3B;Autosomal recessive nonsyndromic hearing loss 1A;Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1B Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_3b_autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_recessive_nonsyndromic_hearing_loss_1a_hidrotic_ectodermal_dysplasia_syndrome Autosomal dominant nonsyndromic hearing loss 3B;Autosomal recessive nonsyndromic hearing loss 1B;Autosomal recessive nonsyndromic hearing loss 1A;Hidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_3b_hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_recessive_nonsyndromic_hearing_loss_1b Autosomal dominant nonsyndromic hearing loss 3B;Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1A;Autosomal recessive nonsyndromic hearing loss 1B Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_3b_hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_recessive_nonsyndromic_hearing_loss_1a Autosomal dominant nonsyndromic hearing loss 3B;Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1B;Autosomal recessive nonsyndromic hearing loss 1A Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_40 Autosomal dominant nonsyndromic hearing loss 40 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_41 Autosomal dominant nonsyndromic hearing loss 41 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_44 Autosomal dominant nonsyndromic hearing loss 44 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_48 Autosomal dominant nonsyndromic hearing loss 48 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_4a Autosomal dominant nonsyndromic hearing loss 4A Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_4a_peripheral_neuropathy_myopathy_hoarseness_hearing_loss_syndrome Autosomal dominant nonsyndromic hearing loss 4A;Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_4b Autosomal dominant nonsyndromic hearing loss 4B Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_4b_hearing_loss_autosomal_recessive_113 Autosomal dominant nonsyndromic hearing loss 4B;Hearing loss, autosomal recessive 113 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_5 Autosomal dominant nonsyndromic hearing loss 5 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_50 Autosomal dominant nonsyndromic hearing loss 50 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_51 Autosomal dominant nonsyndromic hearing loss 51 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_56 Autosomal dominant nonsyndromic hearing loss 56 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_58 Autosomal dominant nonsyndromic hearing loss 58 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6 Autosomal dominant nonsyndromic hearing loss 6 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_64 Autosomal dominant nonsyndromic hearing loss 64 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_65 Autosomal dominant nonsyndromic hearing loss 65 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_65_caused_by_mutation_in_the_tbc1_domain_family_member_24_developmental_and_epileptic_encephalopathy_1 Autosomal dominant nonsyndromic hearing loss 65;Caused by mutation in the TBC1 domain family, member 24;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_65_developmental_and_epileptic_encephalopathy_1_caused_by_mutation_in_the_tbc1_domain_family_member_24 Autosomal dominant nonsyndromic hearing loss 65;Developmental and epileptic encephalopathy, 1;Caused by mutation in the TBC1 domain family, member 24 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_65_developmental_and_epileptic_encephalopathy_1_not_provided Autosomal dominant nonsyndromic hearing loss 65;Developmental and epileptic encephalopathy, 1;not provided Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_65_not_provided_developmental_and_epileptic_encephalopathy_1 Autosomal dominant nonsyndromic hearing loss 65;not provided;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_66 Autosomal dominant nonsyndromic hearing loss 66 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_67 Autosomal dominant nonsyndromic hearing loss 67 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_68 Autosomal dominant nonsyndromic hearing loss 68 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_69 Autosomal dominant nonsyndromic hearing loss 69 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_cataract_41_wolfram_like_syndrome_type_2_diabetes_mellitus_wolfram_syndrome_1 Autosomal dominant nonsyndromic hearing loss 6;Cataract 41;Wolfram-like syndrome;Type 2 diabetes mellitus;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_cataract_41_wolfram_like_syndrome_wolfram_syndrome_1_type_2_diabetes_mellitus Autosomal dominant nonsyndromic hearing loss 6;Cataract 41;Wolfram-like syndrome;Wolfram syndrome 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus_cataract_41_wolfram_like_syndrome_wolfram_syndrome_1 Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Cataract 41;Wolfram-like syndrome;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus_cataract_41_wolfram_syndrome_1_wolfram_like_syndrome Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Cataract 41;Wolfram syndrome 1;Wolfram-like syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus_wolfram_like_syndrome_cataract_41_wolfram_syndrome_1 Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram-like syndrome;Cataract 41;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus_wolfram_syndrome_1_cataract_41_wolfram_like_syndrome Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Cataract 41;Wolfram-like syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus_wolfram_syndrome_1_wolfram_like_syndrome_cataract_41 Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome;Cataract 41 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_wolfram_like_syndrome_cataract_41_type_2_diabetes_mellitus_wolfram_syndrome_1 Autosomal dominant nonsyndromic hearing loss 6;Wolfram-like syndrome;Cataract 41;Type 2 diabetes mellitus;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_wolfram_like_syndrome_cataract_41_wolfram_syndrome_1_type_2_diabetes_mellitus Autosomal dominant nonsyndromic hearing loss 6;Wolfram-like syndrome;Cataract 41;Wolfram syndrome 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_wolfram_like_syndrome_type_2_diabetes_mellitus_wolfram_syndrome_1_cataract_41 Autosomal dominant nonsyndromic hearing loss 6;Wolfram-like syndrome;Type 2 diabetes mellitus;Wolfram syndrome 1;Cataract 41 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_wolfram_syndrome_1 Autosomal dominant nonsyndromic hearing loss 6;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_wolfram_syndrome_1_wolfram_like_syndrome Autosomal dominant nonsyndromic hearing loss 6;Wolfram syndrome 1;Wolfram-like syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_6_wolfram_syndrome_1_wolfram_like_syndrome_wfs1_related_spectrum_disorders Autosomal dominant nonsyndromic hearing loss 6;Wolfram syndrome 1;Wolfram-like syndrome;WFS1-Related Spectrum Disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_7 Autosomal dominant nonsyndromic hearing loss 7 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_70 Autosomal dominant nonsyndromic hearing loss 70 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_9 Autosomal dominant nonsyndromic hearing loss 9 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_91 Autosomal dominant nonsyndromic hearing loss 91 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_autosomal_dominant_nonsyndromic_hearing_loss_64 Autosomal dominant nonsyndromic hearing loss;Autosomal dominant nonsyndromic hearing loss 64 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nonsyndromic_hearing_loss_bilateral_sensorineural_hearing_impairment Autosomal dominant nonsyndromic hearing loss;Bilateral sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:autosomal_dominant_notch1_related_disorders Autosomal dominant NOTCH1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_nr5a1_related_disorders Autosomal dominant NR5A1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_omodysplasia Autosomal dominant omodysplasia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_opitz_g_bbb_syndrome Autosomal dominant Opitz G/BBB syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_optic_atrophy_classic_form Autosomal dominant optic atrophy classic form Supplemental_disease_name DISEASE_NAME:autosomal_dominant_optic_atrophy_classic_form_abortive_cerebellar_ataxia_optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type_glaucoma_normal_tension_susceptibility_to Autosomal dominant optic atrophy classic form;Abortive cerebellar ataxia;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type);Glaucoma, normal tension, susceptibility to Supplemental_disease_name DISEASE_NAME:autosomal_dominant_optic_atrophy_classic_form_mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type Autosomal dominant optic atrophy classic form;Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) Supplemental_disease_name DISEASE_NAME:autosomal_dominant_optic_atrophy_classic_form_optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy Autosomal dominant optic atrophy classic form;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy Supplemental_disease_name DISEASE_NAME:autosomal_dominant_osteopetrosis_2_autosomal_recessive_osteopetrosis_4 Autosomal dominant osteopetrosis 2;Autosomal recessive osteopetrosis 4 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_osteopetrosis_2_autosomal_recessive_osteopetrosis_4_hypopigmentation_organomegaly_and_delayed_myelination_and_development Autosomal dominant osteopetrosis 2;Autosomal recessive osteopetrosis 4;Hypopigmentation, organomegaly, and delayed myelination and development Supplemental_disease_name DISEASE_NAME:autosomal_dominant_osteopetrosis_2_hypopigmentation_organomegaly_and_delayed_myelination_and_development_autosomal_recessive_osteopetrosis Autosomal dominant osteopetrosis 2;Hypopigmentation, organomegaly, and delayed myelination and development;Autosomal recessive osteopetrosis Supplemental_disease_name DISEASE_NAME:autosomal_dominant_pafah1b1_related_disorders Autosomal dominant PAFAH1B1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_palb2_related_cancer_predisposition autosomal dominant PALB2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:autosomal_dominant_parkinson_disease_1_autosomal_dominant_parkinson_disease_4_lewy_body_dementia Autosomal dominant Parkinson disease 1;Autosomal dominant Parkinson disease 4;Lewy body dementia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_parkinson_disease_1_lewy_body_dementia Autosomal dominant Parkinson disease 1;Lewy body dementia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_parkinson_disease_1_lewy_body_dementia_autosomal_dominant_parkinson_disease_4 Autosomal dominant Parkinson disease 1;Lewy body dementia;Autosomal dominant Parkinson disease 4 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_parkinson_disease_4_autosomal_dominant_parkinson_disease_1_lewy_body_dementia Autosomal dominant Parkinson disease 4;Autosomal dominant Parkinson disease 1;Lewy body dementia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_parkinson_disease_8_klippel_feil_syndrome_1_autosomal_dominant Autosomal dominant Parkinson disease 8;Klippel-Feil syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_dominant_pax2_related_disorders Autosomal dominant PAX2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_pax3_related_disorders Autosomal dominant PAX3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_pax6_related_disorders Autosomal dominant PAX6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_polycystic_liver_disease Autosomal dominant polycystic liver disease Supplemental_disease_name DISEASE_NAME:autosomal_dominant_popliteal_pterygium_syndrome Autosomal dominant popliteal pterygium syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_popliteal_pterygium_syndrome_orofacial_cleft_6_susceptibility_to_van_der_woude_syndrome_1 Autosomal dominant popliteal pterygium syndrome;Orofacial cleft 6, susceptibility to;Van der Woude syndrome 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_popliteal_pterygium_syndrome_van_der_woude_syndrome_1_orofacial_cleft_6_susceptibility_to Autosomal dominant popliteal pterygium syndrome;Van der Woude syndrome 1;Orofacial cleft 6, susceptibility to Supplemental_disease_name DISEASE_NAME:autosomal_dominant_progressive_external_ophthalmoplegia Autosomal dominant progressive external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_prrt2_related_disorders Autosomal dominant PRRT2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_psen1_related_disorders Autosomal dominant PSEN1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_pseudohypoaldosteronism Autosomal dominant pseudohypoaldosteronism Supplemental_disease_name DISEASE_NAME:autosomal_dominant_pseudohypoaldosteronism_type_1_pseudohyperaldosteronism_type_2 Autosomal dominant pseudohypoaldosteronism type 1;Pseudohyperaldosteronism type 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_pten_related_disorders Autosomal dominant PTEN-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_ptpn11_related_disorders Autosomal dominant PTPN11-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_retinitis_pigmentosa Autosomal dominant retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:autosomal_dominant_retinitis_pigmentosa_leber_congenital_amaurosis_13 Autosomal dominant retinitis pigmentosa;Leber congenital amaurosis 13 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_rhegmatogenous_retinal_detachment Autosomal dominant rhegmatogenous retinal detachment Supplemental_disease_name DISEASE_NAME:autosomal_dominant_robinow_syndrome Autosomal dominant Robinow syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_robinow_syndrome_1_autosomal_dominant_robinow_syndrome_2 Autosomal dominant Robinow syndrome 1;Autosomal dominant Robinow syndrome 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_robinow_syndrome_2_autosomal_dominant_robinow_syndrome_1 Autosomal dominant Robinow syndrome 2;Autosomal dominant Robinow syndrome 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_rtel1_related_disorders Autosomal dominant RTEL1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_scn1a_related_disorder Autosomal dominant SCN1A-related disorder Supplemental_disease_name DISEASE_NAME:autosomal_dominant_scn1a_related_disorders Autosomal dominant SCN1A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_scn2a_related_disorders Autosomal dominant SCN2A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_scn3a_related_disorders Autosomal dominant SCN3A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_scn4a_related_disorders Autosomal dominant SCN4A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_scn5a_related_disorders Autosomal dominant SCN5A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_scn8a_related_disorders Autosomal dominant SCN8A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_sensory_ataxia_1_spastic_paraplegia_85_autosomal_recessive Autosomal dominant sensory ataxia 1;Spastic paraplegia 85, autosomal recessive Supplemental_disease_name DISEASE_NAME:autosomal_dominant_sideroblastic_anemia Autosomal dominant sideroblastic anemia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_sideroblastic_anemia_even_plus_syndrome Autosomal dominant sideroblastic anemia;Even-plus syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_six1_related_disorders Autosomal dominant SIX1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_slc4a1_related_disorders Autosomal dominant SLC4A1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_slowed_nerve_conduction_velocity Autosomal dominant slowed nerve conduction velocity Supplemental_disease_name DISEASE_NAME:autosomal_dominant_smad6_related_disorders Autosomal dominant SMAD6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_sox10_related_disorders Autosomal dominant SOX10-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_spastic_ataxia Autosomal dominant spastic ataxia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_spastic_paraplegia_type_9 Autosomal dominant spastic paraplegia type 9 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_spastic_paraplegia_type_9_cutis_laxa_autosomal_dominant_3_de_barsy_syndrome Autosomal dominant spastic paraplegia type 9;Cutis laxa, autosomal dominant 3;de Barsy syndrome Supplemental_disease_name DISEASE_NAME:autosomal_dominant_spastic_paraplegia_type_9_de_barsy_syndrome_cutis_laxa_autosomal_dominant_3 Autosomal dominant spastic paraplegia type 9;de Barsy syndrome;Cutis laxa, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_sptan1_related_disorders Autosomal dominant SPTAN1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_striatal_neurodegeneration_type_1 Autosomal dominant striatal neurodegeneration type 1 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_syndrome_including_deafness Autosomal dominant syndrome including deafness Supplemental_disease_name DISEASE_NAME:autosomal_dominant_tcf7l2_related_disorders Autosomal dominant TCF7L2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_thrombocytopenia Autosomal dominant thrombocytopenia Supplemental_disease_name DISEASE_NAME:autosomal_dominant_tpm1_related_disorders Autosomal dominant TPM1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_traf3_related_disorders Autosomal dominant TRAF3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_trio_related_disorders Autosomal dominant TRIO-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_trpv4_related_disorders Autosomal Dominant TRPV4-Related Disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_tshr_related_disorders Autosomal dominant TSHR-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_vibratory_urticaria Autosomal dominant vibratory urticaria Supplemental_disease_name DISEASE_NAME:autosomal_dominant_vitreoretinochoroidopathy_autosomal_recessive_bestrophinopathy_retinitis_pigmentosa_50_vitelliform_macular_dystrophy_2 Autosomal dominant vitreoretinochoroidopathy;Autosomal recessive bestrophinopathy;Retinitis pigmentosa 50;Vitelliform macular dystrophy 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_vitreoretinochoroidopathy_autosomal_recessive_bestrophinopathy_vitelliform_macular_dystrophy_2_retinitis_pigmentosa_50 Autosomal dominant vitreoretinochoroidopathy;Autosomal recessive bestrophinopathy;Vitelliform macular dystrophy 2;Retinitis pigmentosa 50 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_vitreoretinochoroidopathy_retinitis_pigmentosa_50_autosomal_recessive_bestrophinopathy_vitelliform_macular_dystrophy_2 Autosomal dominant vitreoretinochoroidopathy;Retinitis pigmentosa 50;Autosomal recessive bestrophinopathy;Vitelliform macular dystrophy 2 Supplemental_disease_name DISEASE_NAME:autosomal_dominant_wdfy3_related_disorders Autosomal dominant WDFY3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_wooly_hair Autosomal dominant wooly hair Supplemental_disease_name DISEASE_NAME:autosomal_dominant_wooly_hair_hypotrichosis_3_ectodermal_dysplasia_7_hair_nail_type Autosomal dominant wooly hair;Hypotrichosis 3;Ectodermal dysplasia 7, hair/nail type Supplemental_disease_name DISEASE_NAME:autosomal_dominant_zfhx3_related_disorders Autosomal dominant ZFHX3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_dominant_zfhx4_related_disorders Autosomal dominant ZFHX4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_erythropoietic_protoporphyria Autosomal erythropoietic protoporphyria Supplemental_disease_name DISEASE_NAME:autosomal_recessive_abca4_related_disorders Autosomal recessive ABCA4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_abca4_related_retinopathy autosomal recessive ABCA4-related retinopathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_abcb4_related_disorders Autosomal recessive ABCB4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_abcc6_related_disorders Autosomal recessive ABCC6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ada2_related_disorders Autosomal recessive ADA2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_agammaglobulinemia_1 Autosomal recessive agammaglobulinemia 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_agk_related_phenotype Autosomal recessive AGK-related phenotype Supplemental_disease_name DISEASE_NAME:autosomal_recessive_agl_related_disorders Autosomal recessive AGL-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_aipl1_related_disorders Autosomal recessive AIPL1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_alpl_related_disorders Autosomal recessive ALPL-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_alport_syndrome_autosomal_dominant_alport_syndrome Autosomal recessive Alport syndrome;Autosomal dominant Alport syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_alport_syndrome_autosomal_dominant_alport_syndrome_benign_familial_hematuria Autosomal recessive Alport syndrome;Autosomal dominant Alport syndrome;Benign familial hematuria Supplemental_disease_name DISEASE_NAME:autosomal_recessive_alport_syndrome_benign_familial_hematuria Autosomal recessive Alport syndrome;Benign familial hematuria Supplemental_disease_name DISEASE_NAME:autosomal_recessive_alport_syndrome_benign_familial_hematuria_autosomal_dominant_alport_syndrome Autosomal recessive Alport syndrome;Benign familial hematuria;Autosomal dominant Alport syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_alport_syndrome_hematuria_benign_familial_1 Autosomal recessive Alport syndrome;Hematuria, benign familial, 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_alport_syndrome_hematuria_benign_familial_1_focal_segmental_glomerulosclerosis Autosomal recessive Alport syndrome;Hematuria, benign familial, 1;Focal segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:autosomal_recessive_amacr_related_disorders Autosomal recessive AMACR-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_amelia Autosomal recessive amelia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_amelia_coxopodopatellar_syndrome Autosomal recessive amelia;Coxopodopatellar syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ano5_related_disorders Autosomal recessive ANO5-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ataxia_beauce_type_arthrogryposis_multiplex_congenita_3_myogenic_type_emery_dreifuss_muscular_dystrophy_4_autosomal_dominant Autosomal recessive ataxia, Beauce type;Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ataxia_beauce_type_cerebellar_ataxia Autosomal recessive ataxia, Beauce type;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ataxia_beauce_type_charcot_marie_tooth_disease_type_1e_hereditary_liability_to_pressure_palsies Autosomal recessive ataxia, Beauce type;Charcot-Marie-Tooth disease type 1E;Hereditary liability to pressure palsies Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ataxia_beauce_type_emery_dreifuss_muscular_dystrophy_4_autosomal_dominant Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ataxia_beauce_type_emery_dreifuss_muscular_dystrophy_4_autosomal_dominant_arthrogryposis_multiplex_congenita_3_myogenic_type Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Arthrogryposis multiplex congenita 3, myogenic type Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ataxia_due_to_ubiquinone_deficiency Autosomal recessive ataxia due to ubiquinone deficiency Supplemental_disease_name DISEASE_NAME:autosomal_recessive_axonal_hereditary_motor_and_sensory_neuropathy Autosomal recessive axonal hereditary motor and sensory neuropathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_axonal_neuropathy_with_neuromyotonia Autosomal recessive axonal neuropathy with neuromyotonia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_b3galt6_related_disorders autosomal recessive B3GALT6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_bbs1_related_disorders Autosomal recessive BBS1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_bbs2_related_disorders Autosomal recessive BBS2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_bche_related_disorders Autosomal recessive BCHE-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_bcs1l_related_disorders Autosomal recessive BCS1L-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_bestrophinopathy_autosomal_dominant_vitreoretinochoroidopathy_vitelliform_macular_dystrophy_2_retinitis_pigmentosa_50 Autosomal recessive bestrophinopathy;Autosomal dominant vitreoretinochoroidopathy;Vitelliform macular dystrophy 2;Retinitis pigmentosa 50 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_bestrophinopathy_vitelliform_macular_dystrophy_2_autosomal_dominant_vitreoretinochoroidopathy_retinitis_pigmentosa_50 Autosomal recessive bestrophinopathy;Vitelliform macular dystrophy 2;Autosomal dominant vitreoretinochoroidopathy;Retinitis pigmentosa 50 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_bestrophinopathy_vitelliform_macular_dystrophy_2_retinitis_pigmentosa_50_autosomal_dominant_vitreoretinochoroidopathy Autosomal recessive bestrophinopathy;Vitelliform macular dystrophy 2;Retinitis pigmentosa 50;Autosomal dominant vitreoretinochoroidopathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_brachyolmia Autosomal recessive brachyolmia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cbs_related_disorders Autosomal recessive CBS-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cc2d2a_related_disorders Autosomal recessive CC2D2A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cdh23_related_disorders autosomal recessive CDH23-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_centronuclear_myopathy_tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_primary_dilated_cardiomyopathy Autosomal recessive centronuclear myopathy;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure;Autosomal recessive limb-girdle muscular dystrophy type 2J;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cep104_related_disorders Autosomal recessive CEP104-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cep290_related_disorders Autosomal recessive CEP290-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cfap410_related_disorders Autosomal recessive CFAP410-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_chorioretinopathy_microcephaly_syndrome Autosomal recessive chorioretinopathy-microcephaly syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_chrnb1_related_disorders Autosomal recessive CHRNB1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_chrne_related_disorders Autosomal recessive CHRNE-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_chronic_granulomatous_disease Autosomal recessive chronic granulomatous disease Supplemental_disease_name DISEASE_NAME:autosomal_recessive_clcnkb_related_disorders Autosomal recessive CLCNKB-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_clpb_related_disorders Autosomal recessive CLPB-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_coasy_related_disorders Autosomal recessive COASY-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_col4a3_related_disorders Autosomal recessive COL4A3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_col4a4_related_disorders Autosomal recessive COL4A4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_col6a2_related_disorders Autosomal recessive COL6A2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_combined_oxidative_phosphorylation_deficiency_11 Autosomal recessive Combined oxidative phosphorylation deficiency 11 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_complex_spastic_paraplegia Autosomal recessive complex spastic paraplegia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_complex_spastic_paraplegia_type_9b_aldh18a1_related_de_barsy_syndrome Autosomal recessive complex spastic paraplegia type 9B;ALDH18A1-related de Barsy syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_complex_spastic_paraplegia_type_9b_aldh18a1_related_de_barsy_syndrome_autosomal_dominant_spastic_paraplegia_type_9_cutis_laxa_autosomal_dominant_3 Autosomal recessive complex spastic paraplegia type 9B;ALDH18A1-related de Barsy syndrome;Autosomal dominant spastic paraplegia type 9;Cutis laxa, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_complex_spastic_paraplegia_type_9b_aldh18a1_related_de_barsy_syndrome_cutis_laxa_autosomal_dominant_3_hereditary_spastic_paraplegia_9a Autosomal recessive complex spastic paraplegia type 9B;ALDH18A1-related de Barsy syndrome;Cutis laxa, autosomal dominant 3;Hereditary spastic paraplegia 9A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_complex_spastic_paraplegia_type_9b_cutis_laxa_autosomal_dominant_3_hereditary_spastic_paraplegia_9a_aldh18a1_related_de_barsy_syndrome Autosomal recessive complex spastic paraplegia type 9B;Cutis laxa, autosomal dominant 3;Hereditary spastic paraplegia 9A;ALDH18A1-related de Barsy syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_complex_spastic_paraplegia_type_9b_hereditary_spastic_paraplegia_9a Autosomal recessive complex spastic paraplegia type 9B;Hereditary spastic paraplegia 9A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_congenital_ichthyosis_2_autosomal_recessive_congenital_ichthyosis_3 Autosomal recessive congenital ichthyosis 2;Autosomal recessive congenital ichthyosis 3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_congenital_ichthyosis_3_autosomal_recessive_congenital_ichthyosis_2 Autosomal recessive congenital ichthyosis 3;Autosomal recessive congenital ichthyosis 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_congenital_ichthyosis_4a_autosomal_recessive_congenital_ichthyosis_4b Autosomal recessive congenital ichthyosis 4A;Autosomal recessive congenital ichthyosis 4B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_congenital_ichthyosis_4b_autosomal_recessive_congenital_ichthyosis_4a Autosomal recessive congenital ichthyosis 4B;Autosomal recessive congenital ichthyosis 4A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_coq2_related_disorders Autosomal recessive COQ2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cpt2_related_disorders Autosomal recessive CPT2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cr2_related_disorders Autosomal recessive CR2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_crb1_related_disorders Autosomal recessive CRB1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_crb1_related_retinopathy autosomal recessive CRB1-related retinopathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_crb2_related_disorders Autosomal recessive CRB2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_crbn_related_disorders Autosomal recessive CRBN-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cubn_related_disorders Autosomal recessive CUBN-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cutis_laxa Autosomal recessive cutis laxa Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cutis_laxa_type_2_classic_type Autosomal recessive cutis laxa type 2, classic type Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cutis_laxa_type_2b Autosomal recessive cutis laxa type 2B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cutis_laxa_type_2b_pycr1_related_de_barsy_syndrome Autosomal recessive cutis laxa type 2B;PYCR1-related de Barsy syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cutis_laxa_type_2c Autosomal recessive cutis laxa type 2C Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cutis_laxa_type_2d Autosomal recessive cutis laxa type 2D Supplemental_disease_name DISEASE_NAME:autosomal_recessive_cutis_laxa_type_2d_developmental_and_epileptic_encephalopathy_93 Autosomal recessive cutis laxa type 2D;Developmental and epileptic encephalopathy 93 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_dejerine_sottas_syndrome Autosomal recessive Dejerine-Sottas syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_dguok_related_disorders Autosomal recessive DGUOK-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_disorders_of_intracellular_cobalamin_metabolism autosomal recessive disorders of intracellular cobalamin metabolism Supplemental_disease_name DISEASE_NAME:autosomal_recessive_distal_renal_tubular_acidosis Autosomal recessive distal renal tubular acidosis Supplemental_disease_name DISEASE_NAME:autosomal_recessive_distal_spinal_muscular_atrophy_1_charcot_marie_tooth_disease_axonal_type_2s Autosomal recessive distal spinal muscular atrophy 1;Charcot-Marie-Tooth disease axonal type 2S Supplemental_disease_name DISEASE_NAME:autosomal_recessive_distal_spinal_muscular_atrophy_2_amyotrophic_lateral_sclerosis_type_16 Autosomal recessive distal spinal muscular atrophy 2;Amyotrophic lateral sclerosis type 16 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_dna2_related_disorders Autosomal recessive DNA2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_dok7_related_disorders Autosomal recessive DOK7-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_dysf_related_disorders Autosomal recessive DYSF-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_dyskeratosis_congenita_hoyeraal_hreidarsson_syndrome Autosomal recessive dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_efemp2_related_disorders Autosomal recessive EFEMP2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_enpp1_related_disorders Autosomal recessive ENPP1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_epg5_related_disorders Autosomal recessive EPG5-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ercc2_related_disorders Autosomal recessive ERCC2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ercc3_related_disorders Autosomal recessive ERCC3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ercc4_related_disorders Autosomal recessive ERCC4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ercc6_related_disorders Autosomal recessive ERCC6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_fat4_related_disorders Autosomal recessive FAT4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_fgfr1_related_disorders Autosomal recessive FGFR1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_fkrp_related_disorders Autosomal recessive FKRP-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_flg_related_disorders Autosomal recessive FLG-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gba1_related_disorders Autosomal recessive GBA1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gba_related_disorders Autosomal recessive GBA-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gbe1_related_disorders Autosomal recessive GBE1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gillespie_syndrome Autosomal Recessive Gillespie Syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gjc2_related_disorders autosomal recessive GJC2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_glb1_related_disorders Autosomal recessive GLB1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gli1_related_disorders Autosomal recessive GLI1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gls_related_disorders Autosomal recessive GLS-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gmppb_related_disorders Autosomal recessive GMPPB-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gosr2_related_disorders Autosomal recessive GOSR2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gss_related_disorders Autosomal recessive GSS-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_gucy2d_related_disorders Autosomal recessive GUCY2D-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_hearing_impairment_with_normal_menstrual_cycles Autosomal recessive hearing impairment with normal menstrual cycles Supplemental_disease_name DISEASE_NAME:autosomal_recessive_hereditary_hearing_impairment Autosomal-Recessive Hereditary Hearing Impairment Supplemental_disease_name DISEASE_NAME:autosomal_recessive_hexa_related_disorders Autosomal recessive HEXA-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_hspg2_related_disorders Autosomal recessive HSPG2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_hypohidrotic_ectodermal_dysplasia_syndrome_ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_recessive_hypophosphatemic_bone_disease Autosomal recessive hypophosphatemic bone disease Supplemental_disease_name DISEASE_NAME:autosomal_recessive_hypophosphatemic_bone_disease_hypercalciuria Autosomal recessive hypophosphatemic bone disease;Hypercalciuria Supplemental_disease_name DISEASE_NAME:autosomal_recessive_hypotrichosis_with_woolly_hair Autosomal Recessive Hypotrichosis with Woolly Hair Supplemental_disease_name DISEASE_NAME:autosomal_recessive_idua_related_disorders Autosomal recessive IDUA-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ift140_related_disorders Autosomal recessive IFT140-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ighmbp2_related_disorders Autosomal recessive IGHMBP2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_infantile_epilepsy Autosomal recessive infantile epilepsy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_infantile_hypercalcemia Autosomal recessive infantile hypercalcemia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_inheritance Autosomal recessive inheritance Supplemental_disease_name DISEASE_NAME:autosomal_recessive_inheritance_global_developmental_delay_seizure Autosomal recessive inheritance;Global developmental delay;Seizure Supplemental_disease_name DISEASE_NAME:autosomal_recessive_inherited_pseudoxanthoma_elasticum Autosomal recessive inherited pseudoxanthoma elasticum Supplemental_disease_name DISEASE_NAME:autosomal_recessive_inherited_pseudoxanthoma_elasticum_arterial_calcification_generalized_of_infancy_2 Autosomal recessive inherited pseudoxanthoma elasticum;Arterial calcification, generalized, of infancy, 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_inherited_pseudoxanthoma_elasticum_arterial_calcification_generalized_of_infancy_2_pseudoxanthoma_elasticum_forme_fruste Autosomal recessive inherited pseudoxanthoma elasticum;Arterial calcification, generalized, of infancy, 2;Pseudoxanthoma elasticum, forme fruste Supplemental_disease_name DISEASE_NAME:autosomal_recessive_inherited_pseudoxanthoma_elasticum_desbuquois_dysplasia_2 Autosomal recessive inherited pseudoxanthoma elasticum;Desbuquois dysplasia 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_inherited_pseudoxanthoma_elasticum_pseudoxanthoma_elasticum_forme_fruste Autosomal recessive inherited pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste Supplemental_disease_name DISEASE_NAME:autosomal_recessive_inherited_pseudoxanthoma_elasticum_pseudoxanthoma_elasticum_forme_fruste_arterial_calcification_generalized_of_infancy_2 Autosomal recessive inherited pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste;Arterial calcification, generalized, of infancy, 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_inherited_pseudoxanthoma_elasticum_spondylo_ocular_syndrome Autosomal recessive inherited pseudoxanthoma elasticum;Spondylo-ocular syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_isolated_fingernail_dysplasia autosomal recessive isolated fingernail dysplasia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_juvenile_parkinson_disease_2_lung_cancer_ovarian_cancer Autosomal recessive juvenile Parkinson disease 2;Lung cancer;Ovarian cancer Supplemental_disease_name DISEASE_NAME:autosomal_recessive_juvenile_parkinson_disease_2_lung_cancer_ovarian_neoplasm Autosomal recessive juvenile Parkinson disease 2;Lung cancer;Ovarian neoplasm Supplemental_disease_name DISEASE_NAME:autosomal_recessive_juvenile_parkinson_disease_2_ovarian_cancer_lung_cancer Autosomal recessive juvenile Parkinson disease 2;Ovarian cancer;Lung cancer Supplemental_disease_name DISEASE_NAME:autosomal_recessive_juvenile_parkinson_disease_2_ovarian_neoplasm_lung_cancer Autosomal recessive juvenile Parkinson disease 2;Ovarian neoplasm;Lung cancer Supplemental_disease_name DISEASE_NAME:autosomal_recessive_juvenile_parkinson_disease_2_ovarian_neoplasm_lung_carcinoma_leprosy_susceptibility_to_2 Autosomal recessive juvenile Parkinson disease 2;Ovarian neoplasm;Lung carcinoma;Leprosy, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_kenny_caffey_syndrome Autosomal recessive Kenny-Caffey syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_kenny_caffey_syndrome_encephalopathy_progressive_with_amyotrophy_and_optic_atrophy_hypoparathyroidism_retardation_dysmorphism_syndrome Autosomal recessive Kenny-Caffey syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy;Hypoparathyroidism-retardation-dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_kenny_caffey_syndrome_hypoparathyroidism_retardation_dysmorphism_syndrome Autosomal recessive Kenny-Caffey syndrome;Hypoparathyroidism-retardation-dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_kenny_caffey_syndrome_hypoparathyroidism_retardation_dysmorphism_syndrome_encephalopathy_progressive_with_amyotrophy_and_optic_atrophy Autosomal recessive Kenny-Caffey syndrome;Hypoparathyroidism-retardation-dysmorphism syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_keratitis_ichthyosis_deafness_syndrome Autosomal recessive keratitis-ichthyosis-deafness syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_kiaa0586_related_disorders Autosomal recessive KIAA0586-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_kiaa0753_related_disorders Autosomal recessive KIAA0753-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type Autosomal recessive limb-girdle muscular dystrophy type Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2a_muscular_dystrophy_limb_girdle_autosomal_dominant_4 Autosomal recessive limb-girdle muscular dystrophy type 2A;Muscular dystrophy, limb-girdle, autosomal dominant 4 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_distal_myopathy_with_anterior_tibial_onset_miyoshi_muscular_dystrophy_1 Autosomal recessive limb-girdle muscular dystrophy type 2B;Distal myopathy with anterior tibial onset;Miyoshi muscular dystrophy 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_miyoshi_muscular_dystrophy_1 Autosomal recessive limb-girdle muscular dystrophy type 2B;Miyoshi muscular dystrophy 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_miyoshi_muscular_dystrophy_1_distal_myopathy_with_anterior_tibial_onset Autosomal recessive limb-girdle muscular dystrophy type 2B;Miyoshi muscular dystrophy 1;Distal myopathy with anterior tibial onset Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_miyoshi_myopathy_distal_myopathy_with_anterior_tibial_onset Autosomal recessive limb-girdle muscular dystrophy type 2B;Miyoshi myopathy;Distal myopathy with anterior tibial onset Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_miyoshi_myopathy_neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_dysferlin_distal_myopathy_with_anterior_tibial_onset Autosomal recessive limb-girdle muscular dystrophy type 2B;Miyoshi myopathy;Neuromuscular disease caused by qualitative or quantitative defects of dysferlin;Distal myopathy with anterior tibial onset Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_dysferlin_distal_myopathy_with_anterior_tibial_onset_miyoshi_myopathy Autosomal recessive limb-girdle muscular dystrophy type 2B;Neuromuscular disease caused by qualitative or quantitative defects of dysferlin;Distal myopathy with anterior tibial onset;Miyoshi myopathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2f_dilated_cardiomyopathy_1l Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2g_hypertrophic_cardiomyopathy_25 Autosomal recessive limb-girdle muscular dystrophy type 2G;Hypertrophic cardiomyopathy 25 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_type_b5 Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy type B5 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_type_b5 Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy type B5 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_type_b5 Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy type B5 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_type_b5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_type_b5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5 Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_type_b5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5 Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_type_b5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_dilated_cardiomyopathy_1g Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_dilated_cardiomyopathy_1g_tibial_muscular_dystrophy_early_onset_myopathy_with_fatal_cardiomyopathy_hypertrophic_cardiomyopathy_9 Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G;Tibial muscular dystrophy;Early-onset myopathy with fatal cardiomyopathy;Hypertrophic cardiomyopathy 9 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_early_onset_myopathy_with_fatal_cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J;Early-onset myopathy with fatal cardiomyopathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g_tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure Autosomal recessive limb-girdle muscular dystrophy type 2J;Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_myopathy_myofibrillar_9_with_early_respiratory_failure_primary_dilated_cardiomyopathy_autosomal_recessive_centronuclear_myopathy_tibial_muscular_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J;Myopathy, myofibrillar, 9, with early respiratory failure;Primary dilated cardiomyopathy;Autosomal recessive centronuclear myopathy;Tibial muscular dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_myopathy_myofibrillar_9_with_early_respiratory_failure_primary_dilated_cardiomyopathy_centronuclear_myopathy_tibial_muscular_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J;Myopathy, myofibrillar, 9, with early respiratory failure;Primary dilated cardiomyopathy;Centronuclear myopathy;Tibial muscular dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_primary_dilated_cardiomyopathy_tibial_muscular_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J;Primary dilated cardiomyopathy;Tibial muscular dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_primary_dilated_cardiomyopathy_tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure Autosomal recessive limb-girdle muscular dystrophy type 2J;Primary dilated cardiomyopathy;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_primary_dilated_cardiomyopathy_tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure_myopathy_centronuclear_2 Autosomal recessive limb-girdle muscular dystrophy type 2J;Primary dilated cardiomyopathy;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure;Myopathy, centronuclear, 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_tibial_muscular_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_tibial_muscular_dystrophy_dilated_cardiomyopathy_1g_early_onset_myopathy_with_fatal_cardiomyopathy_hypertrophic_cardiomyopathy_9 Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Dilated cardiomyopathy 1G;Early-onset myopathy with fatal cardiomyopathy;Hypertrophic cardiomyopathy 9 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure_primary_dilated_cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1 Autosomal recessive limb-girdle muscular dystrophy type 2K;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Autosomal recessive limb-girdle muscular dystrophy type 2K;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1_walker_warburg_congenital_muscular_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1;Walker-Warburg congenital muscular dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k_walker_warburg_congenital_muscular_dystrophy_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1 Autosomal recessive limb-girdle muscular dystrophy type 2K;Walker-Warburg congenital muscular dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l_ano5_related_muscle_diseases Autosomal recessive limb-girdle muscular dystrophy type 2L;ANO5-Related Muscle Diseases Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l_gnathodiaphyseal_dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l_gnathodiaphyseal_dysplasia_miyoshi_muscular_dystrophy_3 Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia;Miyoshi muscular dystrophy 3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l_miyoshi_muscular_dystrophy_3 Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l_miyoshi_muscular_dystrophy_3_gnathodiaphyseal_dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4 Autosomal recessive limb-girdle muscular dystrophy type 2M;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Autosomal recessive limb-girdle muscular dystrophy type 2M;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Autosomal recessive limb-girdle muscular dystrophy type 2M;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4 Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_dilated_cardiomyopathy_1x Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Dilated cardiomyopathy 1X Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_dilated_cardiomyopathy_1x Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Dilated cardiomyopathy 1X Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2 Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2 Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2 Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3 Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3 Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3 Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_retinitis_pigmentosa_76 Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3 Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3 Autosomal recessive limb-girdle muscular dystrophy type 2O;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3 Autosomal recessive limb-girdle muscular dystrophy type 2O;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2p_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a9 Autosomal recessive limb-girdle muscular dystrophy type 2P;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_junctional_epidermolysis_bullosa_with_pyloric_atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Junctional epidermolysis bullosa with pyloric atresia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2r1 Autosomal recessive limb-girdle muscular dystrophy type 2R1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2t_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a14_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b14 Autosomal recessive limb-girdle muscular dystrophy type 2T;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2t_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b14_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a14 Autosomal recessive limb-girdle muscular dystrophy type 2T;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_2u_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_7 Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_limb_girdle_muscular_dystrophy_type_r18 Autosomal recessive limb-girdle muscular dystrophy type R18 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_lrp4_related_disorders Autosomal recessive LRP4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_lrp5_related_disorders Autosomal recessive LRP5-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_madd_related_disorders Autosomal recessive MADD-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_a_complete_deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Supplemental_disease_name DISEASE_NAME:autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_jak1_deficiency_autoinflammation_immune_dysregulation_and_eosinophilia Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency;Autoinflammation, immune dysregulation, and eosinophilia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_mkks_related_disorders Autosomal recessive MKKS-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_mks1_related_disorders Autosomal recessive MKS1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_mpv17_related_disorders Autosomal recessive MPV17-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_mtfmt_related_disorders Autosomal recessive MTFMT-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_multiple_pterygium_syndrome_lethal_multiple_pterygium_syndrome Autosomal recessive multiple pterygium syndrome;Lethal multiple pterygium syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_musk_related_disorders Autosomal recessive MUSK-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_mutyh_related_disorders Autosomal recessive MUTYH-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_mvk_related_disorders autosomal recessive MVK-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_myh2_related_disorders Autosomal recessive MYH2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_myo7a_related_disorders Autosomal recessive MYO7A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_myogenic_arthrogryposis_multiplex_congenita Autosomal recessive myogenic arthrogryposis multiplex congenita Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nbas_related_disorders Autosomal recessive NBAS-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_neb_related_disorders Autosomal recessive NEB-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_neu1_related_disorders Autosomal recessive NEU1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nmnat1_related_disorders autosomal recessive NMNAT1-related disorders. Supplemental_disease_name DISEASE_NAME:autosomal_recessive_non_syndromic_intellectual_disability Autosomal recessive non-syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:autosomal_recessive_non_syndromic_intellectual_disability_autosomal_recessive_nonsyndromic_hearing_loss_67 Autosomal recessive non-syndromic intellectual disability;Autosomal recessive nonsyndromic hearing loss 67 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_non_syndromic_sensorineural_deafness Autosomal recessive non-syndromic sensorineural deafness Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_101 Autosomal recessive nonsyndromic hearing loss 101 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_102 Autosomal recessive nonsyndromic hearing loss 102 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_103 Autosomal recessive nonsyndromic hearing loss 103 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_104 Autosomal recessive nonsyndromic hearing loss 104 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_104_autosomal_dominant_nonsyndromic_hearing_loss_21 Autosomal recessive nonsyndromic hearing loss 104;Autosomal dominant nonsyndromic hearing loss 21 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_12 Autosomal recessive nonsyndromic hearing loss 12 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_124 Autosomal recessive nonsyndromic hearing loss 124 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_12_hearing_loss_autosomal_dominant_82 Autosomal recessive nonsyndromic hearing loss 12;Hearing loss, autosomal dominant 82 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_12_pituitary_adenoma_5_multiple_types_usher_syndrome_type_1d Autosomal recessive nonsyndromic hearing loss 12;Pituitary adenoma 5, multiple types;Usher syndrome type 1D Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_12_usher_syndrome_type_1d Autosomal recessive nonsyndromic hearing loss 12;Usher syndrome type 1D Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_12_usher_syndrome_type_1d_pituitary_adenoma_5_multiple_types Autosomal recessive nonsyndromic hearing loss 12;Usher syndrome type 1D;Pituitary adenoma 5, multiple types Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_15 Autosomal recessive nonsyndromic hearing loss 15 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_16 Autosomal recessive nonsyndromic hearing loss 16 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_16_deafness_infertility_syndrome_spermatogenic_failure_7 Autosomal recessive nonsyndromic hearing loss 16;Deafness-infertility syndrome;Spermatogenic failure 7 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_16_spermatogenic_failure_7_deafness_infertility_syndrome Autosomal recessive nonsyndromic hearing loss 16;Spermatogenic failure 7;Deafness-infertility syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_18a Autosomal recessive nonsyndromic hearing loss 18A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_18a_usher_syndrome_type_1_usher_syndrome_type_1c Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1;Usher syndrome type 1C Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_18a_usher_syndrome_type_1c Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_18a_usher_syndrome_type_1c_usher_syndrome_type_1 Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C;Usher syndrome type 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_18b Autosomal recessive nonsyndromic hearing loss 18B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a Autosomal recessive nonsyndromic hearing loss 1A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_dominant_nonsyndromic_hearing_loss_2b_erythrokeratodermia_variabilis_et_progressiva_1 Autosomal recessive nonsyndromic hearing loss 1A;Autosomal dominant nonsyndromic hearing loss 2B;Erythrokeratodermia variabilis et progressiva 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_dominant_nonsyndromic_hearing_loss_3a Autosomal recessive nonsyndromic hearing loss 1A;Autosomal dominant nonsyndromic hearing loss 3A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_dominant_nonsyndromic_hearing_loss_3b_hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1b Autosomal recessive nonsyndromic hearing loss 1A;Autosomal dominant nonsyndromic hearing loss 3B;Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_dominant_nonsyndromic_hearing_loss_3b_x_linked_mixed_hearing_loss_with_perilymphatic_gusher_autosomal_recessive_nonsyndromic_hearing_loss_1b_hidrotic_ectodermal_dysplasia_syndrome Autosomal recessive nonsyndromic hearing loss 1A;Autosomal dominant nonsyndromic hearing loss 3B;X-linked mixed hearing loss with perilymphatic gusher;Autosomal recessive nonsyndromic hearing loss 1B;Hidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_recessive_nonsyndromic_hearing_loss_1b Autosomal recessive nonsyndromic hearing loss 1A;Autosomal recessive nonsyndromic hearing loss 1B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b_hidrotic_ectodermal_dysplasia_syndrome Autosomal recessive nonsyndromic hearing loss 1A;Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B;Hidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b_x_linked_mixed_hearing_loss_with_perilymphatic_gusher_hidrotic_ectodermal_dysplasia_syndrome Autosomal recessive nonsyndromic hearing loss 1A;Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B;X-linked mixed hearing loss with perilymphatic gusher;Hidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a_erythrokeratodermia_variabilis_et_progressiva_1_autosomal_dominant_nonsyndromic_hearing_loss_2b Autosomal recessive nonsyndromic hearing loss 1A;Erythrokeratodermia variabilis et progressiva 1;Autosomal dominant nonsyndromic hearing loss 2B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1a_hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b Autosomal recessive nonsyndromic hearing loss 1A;Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b Autosomal recessive nonsyndromic hearing loss 1B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b_autosomal_recessive_nonsyndromic_hearing_loss_1a_hidrotic_ectodermal_dysplasia_syndrome Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B;Autosomal recessive nonsyndromic hearing loss 1A;Hidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b_autosomal_recessive_nonsyndromic_hearing_loss_1a_x_linked_mixed_hearing_loss_with_perilymphatic_gusher_hidrotic_ectodermal_dysplasia_syndrome Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B;Autosomal recessive nonsyndromic hearing loss 1A;X-linked mixed hearing loss with perilymphatic gusher;Hidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b_hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1a Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B;Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b_x_linked_mixed_hearing_loss_with_perilymphatic_gusher_hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1a Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B;X-linked mixed hearing loss with perilymphatic gusher;Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_recessive_nonsyndromic_hearing_loss_1a Autosomal recessive nonsyndromic hearing loss 1B;Autosomal recessive nonsyndromic hearing loss 1A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_dominant_nonsyndromic_hearing_loss_3b_hidrotic_ectodermal_dysplasia_syndrome Autosomal recessive nonsyndromic hearing loss 1B;Autosomal recessive nonsyndromic hearing loss 1A;Autosomal dominant nonsyndromic hearing loss 3B;Hidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_dominant_nonsyndromic_hearing_loss_3b_x_linked_mixed_hearing_loss_with_perilymphatic_gusher_hidrotic_ectodermal_dysplasia_syndrome Autosomal recessive nonsyndromic hearing loss 1B;Autosomal recessive nonsyndromic hearing loss 1A;Autosomal dominant nonsyndromic hearing loss 3B;X-linked mixed hearing loss with perilymphatic gusher;Hidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_hidrotic_ectodermal_dysplasia_syndrome_autosomal_dominant_nonsyndromic_hearing_loss_3b_autosomal_recessive_nonsyndromic_hearing_loss_1a Autosomal recessive nonsyndromic hearing loss 1B;Hidrotic ectodermal dysplasia syndrome;Autosomal dominant nonsyndromic hearing loss 3B;Autosomal recessive nonsyndromic hearing loss 1A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_1b_hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_dominant_nonsyndromic_hearing_loss_3b Autosomal recessive nonsyndromic hearing loss 1B;Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1A;Autosomal dominant nonsyndromic hearing loss 3B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_2 Autosomal recessive nonsyndromic hearing loss 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_21 Autosomal recessive nonsyndromic hearing loss 21 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_21_autosomal_dominant_nonsyndromic_hearing_loss_12 Autosomal recessive nonsyndromic hearing loss 21;Autosomal dominant nonsyndromic hearing loss 12 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_22 Autosomal recessive nonsyndromic hearing loss 22 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_23 Autosomal recessive nonsyndromic hearing loss 23 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_23_usher_syndrome_type_1d_usher_syndrome_type_1f Autosomal recessive nonsyndromic hearing loss 23;Usher syndrome type 1D;Usher syndrome type 1F Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_23_usher_syndrome_type_1f Autosomal recessive nonsyndromic hearing loss 23;Usher syndrome type 1F Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_23_usher_syndrome_type_1f_usher_syndrome_type_1d Autosomal recessive nonsyndromic hearing loss 23;Usher syndrome type 1F;Usher syndrome type 1D Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_24 Autosomal recessive nonsyndromic hearing loss 24 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_25 Autosomal recessive nonsyndromic hearing loss 25 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_26 Autosomal recessive nonsyndromic hearing loss 26 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_28 Autosomal recessive nonsyndromic hearing loss 28 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_29 Autosomal recessive nonsyndromic hearing loss 29 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_2_autosomal_dominant_nonsyndromic_hearing_loss_11_usher_syndrome_type_1 Autosomal recessive nonsyndromic hearing loss 2;Autosomal dominant nonsyndromic hearing loss 11;Usher syndrome type 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_2_usher_syndrome_type_1 Autosomal recessive nonsyndromic hearing loss 2;Usher syndrome type 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_2_usher_syndrome_type_1_autosomal_dominant_nonsyndromic_hearing_loss_11 Autosomal recessive nonsyndromic hearing loss 2;Usher syndrome type 1;Autosomal dominant nonsyndromic hearing loss 11 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_2_usher_syndrome_type_1_retinitis_pigmentosa Autosomal recessive nonsyndromic hearing loss 2;Usher syndrome type 1;Retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_3 Autosomal recessive nonsyndromic hearing loss 3 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_30 Autosomal recessive nonsyndromic hearing loss 30 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_31 Autosomal recessive nonsyndromic hearing loss 31 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_31_usher_syndrome_type_2d Autosomal recessive nonsyndromic hearing loss 31;Usher syndrome type 2D Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_32 Autosomal recessive nonsyndromic hearing loss 32 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_35 Autosomal recessive nonsyndromic hearing loss 35 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_36 Autosomal recessive nonsyndromic hearing loss 36 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_36_usher_syndrome_type_1m Autosomal recessive nonsyndromic hearing loss 36;Usher syndrome, type 1M Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_37 Autosomal recessive nonsyndromic hearing loss 37 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_37_autosomal_dominant_nonsyndromic_hearing_loss_22 Autosomal recessive nonsyndromic hearing loss 37;Autosomal dominant nonsyndromic hearing loss 22 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_39 Autosomal recessive nonsyndromic hearing loss 39 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_4 Autosomal recessive nonsyndromic hearing loss 4 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_42 Autosomal recessive nonsyndromic hearing loss 42 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_44 Autosomal recessive nonsyndromic hearing loss 44 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_48 Autosomal recessive nonsyndromic hearing loss 48 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_49 Autosomal recessive nonsyndromic hearing loss 49 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_4_east_syndrome Autosomal recessive nonsyndromic hearing loss 4;EAST syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_4_east_syndrome_pendred_syndrome Autosomal recessive nonsyndromic hearing loss 4;EAST syndrome;Pendred syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_4_pendred_syndrome Autosomal recessive nonsyndromic hearing loss 4;Pendred syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_4_pendred_syndrome_east_syndrome Autosomal recessive nonsyndromic hearing loss 4;Pendred syndrome;EAST syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_53 Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_53_autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_recessive Autosomal recessive nonsyndromic hearing loss 53;Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_53_autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_dominant Autosomal recessive nonsyndromic hearing loss 53;Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_53_fibrochondrogenesis_2_autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_otospondylomegaepiphyseal_dysplasia_autosomal_dominant Autosomal recessive nonsyndromic hearing loss 53;Fibrochondrogenesis 2;Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Otospondylomegaepiphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_53_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_fibrochondrogenesis_2 Autosomal recessive nonsyndromic hearing loss 53;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Fibrochondrogenesis 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_53_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_dominant_nonsyndromic_hearing_loss_13_fibrochondrogenesis_2 Autosomal recessive nonsyndromic hearing loss 53;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal dominant nonsyndromic hearing loss 13;Fibrochondrogenesis 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_53_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_fibrochondrogenesis_2_autosomal_dominant_nonsyndromic_hearing_loss_13 Autosomal recessive nonsyndromic hearing loss 53;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Fibrochondrogenesis 2;Autosomal dominant nonsyndromic hearing loss 13 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_59 Autosomal recessive nonsyndromic hearing loss 59 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_6 Autosomal recessive nonsyndromic hearing loss 6 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_61 Autosomal recessive nonsyndromic hearing loss 61 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_63 Autosomal recessive nonsyndromic hearing loss 63 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_66 Autosomal recessive nonsyndromic hearing loss 66 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_66_isolated_neonatal_sclerosing_cholangitis Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_66_isolated_neonatal_sclerosing_cholangitis_nephronophthisis_19 Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis;Nephronophthisis 19 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_66_nephronophthisis_19_isolated_neonatal_sclerosing_cholangitis Autosomal recessive nonsyndromic hearing loss 66;Nephronophthisis 19;Isolated neonatal sclerosing cholangitis Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_67 Autosomal recessive nonsyndromic hearing loss 67 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_68 Autosomal recessive nonsyndromic hearing loss 68 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_7 Autosomal recessive nonsyndromic hearing loss 7 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_70 Autosomal recessive nonsyndromic hearing loss 70 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_70_combined_oxidative_phosphorylation_defect_type_13 Autosomal recessive nonsyndromic hearing loss 70;Combined oxidative phosphorylation defect type 13 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_70_spinocerebellar_ataxia_type_25 Autosomal recessive nonsyndromic hearing loss 70;Spinocerebellar ataxia type 25 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_74 Autosomal recessive nonsyndromic hearing loss 74 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_76 Autosomal recessive nonsyndromic hearing loss 76 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_77 Autosomal recessive nonsyndromic hearing loss 77 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_79 Autosomal recessive nonsyndromic hearing loss 79 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_7_autosomal_dominant_nonsyndromic_hearing_loss_36 Autosomal recessive nonsyndromic hearing loss 7;Autosomal dominant nonsyndromic hearing loss 36 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_8 Autosomal recessive nonsyndromic hearing loss 8 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_84a Autosomal recessive nonsyndromic hearing loss 84A Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_84a_hearing_loss_autosomal_dominant_73 Autosomal recessive nonsyndromic hearing loss 84A;Hearing loss, autosomal dominant 73 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_84b Autosomal recessive nonsyndromic hearing loss 84B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_86 Autosomal recessive nonsyndromic hearing loss 86 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_86_developmental_and_epileptic_encephalopathy_16_familial_infantile_myoclonic_epilepsy_autosomal_dominant_nonsyndromic_hearing_loss_65_doors_syndrome Autosomal recessive nonsyndromic hearing loss 86;Developmental and epileptic encephalopathy, 16;Familial infantile myoclonic epilepsy;Autosomal dominant nonsyndromic hearing loss 65;DOORS syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_86_doors_syndrome_familial_infantile_myoclonic_epilepsy_developmental_and_epileptic_encephalopathy_16_autosomal_dominant_nonsyndromic_hearing_loss_65 Autosomal recessive nonsyndromic hearing loss 86;DOORS syndrome;Familial infantile myoclonic epilepsy;Developmental and epileptic encephalopathy, 16;Autosomal dominant nonsyndromic hearing loss 65 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_88 Autosomal recessive nonsyndromic hearing loss 88 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_89 Autosomal recessive nonsyndromic hearing loss 89 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_89_charcot_marie_tooth_disease_recessive_intermediate_b_leukoencephalopathy_progressive_infantile_onset_with_or_without_deafness_deafness_congenital_and_adult_onset_progressive_leukoencephalopathy Autosomal recessive nonsyndromic hearing loss 89;Charcot-Marie-Tooth disease recessive intermediate B;Leukoencephalopathy, progressive, infantile-onset, with or without deafness;Deafness, congenital, and adult-onset progressive leukoencephalopathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_89_leukoencephalopathy_progressive_infantile_onset_with_or_without_deafness Autosomal recessive nonsyndromic hearing loss 89;Leukoencephalopathy, progressive, infantile-onset, with or without deafness Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_89_leukoencephalopathy_progressive_infantile_onset_with_or_without_deafness_deafness_congenital_and_adult_onset_progressive_leukoencephalopathy_charcot_marie_tooth_disease_recessive_intermediate_b Autosomal recessive nonsyndromic hearing loss 89;Leukoencephalopathy, progressive, infantile-onset, with or without deafness;Deafness, congenital, and adult-onset progressive leukoencephalopathy;Charcot-Marie-Tooth disease recessive intermediate B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_9 Autosomal recessive nonsyndromic hearing loss 9 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_91 Autosomal recessive nonsyndromic hearing loss 91 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_93 Autosomal recessive nonsyndromic hearing loss 93 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97 Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_arthrogryposis_distal_iia_11_hepatocellular_carcinoma_osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1 Autosomal recessive nonsyndromic hearing loss 97;Arthrogryposis, distal, IIa 11;Hepatocellular carcinoma;Osteofibrous dysplasia;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_hepatocellular_carcinoma_arthrogryposis_distal_iia_11_osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1 Autosomal recessive nonsyndromic hearing loss 97;Hepatocellular carcinoma;Arthrogryposis, distal, IIa 11;Osteofibrous dysplasia;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1_arthrogryposis_distal_iia_11_osteofibrous_dysplasia Autosomal recessive nonsyndromic hearing loss 97;Hepatocellular carcinoma;Papillary renal cell carcinoma type 1;Arthrogryposis, distal, IIa 11;Osteofibrous dysplasia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_osteofibrous_dysplasia_arthrogryposis_distal_iia_11_papillary_renal_cell_carcinoma_type_1_hepatocellular_carcinoma Autosomal recessive nonsyndromic hearing loss 97;Osteofibrous dysplasia;Arthrogryposis, distal, IIa 11;Papillary renal cell carcinoma type 1;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_osteofibrous_dysplasia_hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1 Autosomal recessive nonsyndromic hearing loss 97;Osteofibrous dysplasia;Hepatocellular carcinoma;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1_arthrogryposis_distal_iia_11_hepatocellular_carcinoma Autosomal recessive nonsyndromic hearing loss 97;Osteofibrous dysplasia;Papillary renal cell carcinoma type 1;Arthrogryposis, distal, IIa 11;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1_hepatocellular_carcinoma Autosomal recessive nonsyndromic hearing loss 97;Osteofibrous dysplasia;Papillary renal cell carcinoma type 1;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_papillary_renal_cell_carcinoma_type_1_hepatocellular_carcinoma_arthrogryposis_distal_iia_11_osteofibrous_dysplasia Autosomal recessive nonsyndromic hearing loss 97;Papillary renal cell carcinoma type 1;Hepatocellular carcinoma;Arthrogryposis, distal, IIa 11;Osteofibrous dysplasia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_papillary_renal_cell_carcinoma_type_1_hepatocellular_carcinoma_osteofibrous_dysplasia_arthrogryposis_distal_iia_11 Autosomal recessive nonsyndromic hearing loss 97;Papillary renal cell carcinoma type 1;Hepatocellular carcinoma;Osteofibrous dysplasia;Arthrogryposis, distal, IIa 11 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_97_papillary_renal_cell_carcinoma_type_1_osteofibrous_dysplasia_arthrogryposis_distal_iia_11_hepatocellular_carcinoma Autosomal recessive nonsyndromic hearing loss 97;Papillary renal cell carcinoma type 1;Osteofibrous dysplasia;Arthrogryposis, distal, IIa 11;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_98 Autosomal recessive nonsyndromic hearing loss 98 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_98_ectodermal_dysplasia_14_hair_tooth_type_with_or_without_hypohidrosis Autosomal recessive nonsyndromic hearing loss 98;Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_98_ectodermal_dysplasia_14_hair_tooth_type_with_or_without_hypohidrosis_tooth_agenesis_selective_10 Autosomal recessive nonsyndromic hearing loss 98;Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis;Tooth agenesis, selective, 10 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_98_tooth_agenesis_selective_10_ectodermal_dysplasia_14_hair_tooth_type_with_or_without_hypohidrosis Autosomal recessive nonsyndromic hearing loss 98;Tooth agenesis, selective, 10;Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_hearing_loss_and_deafness Autosomal Recessive Nonsyndromic Hearing Loss and Deafness Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nonsyndromic_postaxial_polydactyly Autosomal recessive nonsyndromic postaxial polydactyly Supplemental_disease_name DISEASE_NAME:autosomal_recessive_npc1_related_disorders Autosomal recessive NPC1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nphp4_related_disorders Autosomal. recessive NPHP4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_nup133_related_disorders Autosomal recessive NUP133-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_oca2_related_disorders Autosomal recessive OCA2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ocular_albinism Autosomal recessive ocular albinism Supplemental_disease_name DISEASE_NAME:autosomal_recessive_omodysplasia Autosomal recessive omodysplasia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_optic_atrophy Autosomal recessive optic atrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_optic_atrophy_opa7_type Autosomal recessive optic atrophy, OPA7 type Supplemental_disease_name DISEASE_NAME:autosomal_recessive_osteopetrosis Autosomal recessive osteopetrosis Supplemental_disease_name DISEASE_NAME:autosomal_recessive_osteopetrosis_1_mitochondrial_complex_i_deficiency_nuclear_type_2 Autosomal recessive osteopetrosis 1;Mitochondrial complex I deficiency, nuclear type 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_osteopetrosis_4_autosomal_dominant_osteopetrosis_2 Autosomal recessive osteopetrosis 4;Autosomal dominant osteopetrosis 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_osteopetrosis_4_autosomal_dominant_osteopetrosis_2_hypopigmentation_organomegaly_and_delayed_myelination_and_development Autosomal recessive osteopetrosis 4;Autosomal dominant osteopetrosis 2;Hypopigmentation, organomegaly, and delayed myelination and development Supplemental_disease_name DISEASE_NAME:autosomal_recessive_osteopetrosis_4_hypopigmentation_organomegaly_and_delayed_myelination_and_development_autosomal_dominant_osteopetrosis_2 Autosomal recessive osteopetrosis 4;Hypopigmentation, organomegaly, and delayed myelination and development;Autosomal dominant osteopetrosis 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_osteopetrosis_7_paget_disease_of_bone_2_early_onset_familial_expansile_osteolysis Autosomal recessive osteopetrosis 7;Paget disease of bone 2, early-onset;Familial expansile osteolysis Supplemental_disease_name DISEASE_NAME:autosomal_recessive_otof_related_disorders Autosomal recessive OTOF-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pah_related_disorders Autosomal recessive PAH-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_parkinson_disease_14_infantile_neuroaxonal_dystrophy_neurodegeneration_with_brain_iron_accumulation_2b Autosomal recessive Parkinson disease 14;Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B Supplemental_disease_name DISEASE_NAME:autosomal_recessive_parkinson_disease_14_neurodegeneration_with_brain_iron_accumulation_2b_infantile_neuroaxonal_dystrophy Autosomal recessive Parkinson disease 14;Neurodegeneration with brain iron accumulation 2B;Infantile neuroaxonal dystrophy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pdzd7_related_disorders Autosomal recessive PDZD7-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pex12_related_disorders Autosomal recessive PEX12-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pex1_related_disorders Autosomal recessive PEX1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pex6_related_disorders Autosomal recessive PEX6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_phgdh_related_disorders Autosomal recessive PHGDH-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_piezo2_associated_disease autosomal recessive PIEZO2 associated disease Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pla2g6_related_disorders Autosomal recessive PLA2G6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_plekhg5_related_disorders Autosomal recessive PLEKHG5-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pnkp_related_disorders Autosomal recessive PNKP-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pnpla6_related_disorders Autosomal recessive PNPLA6-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pnpt1_related_disorders Autosomal recessive PNPT1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_polg_related_disorders Autosomal recessive POLG-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_polr3a_related_disorders Autosomal recessive POLR3A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_pomgnt1_related_disorders Autosomal recessive POMGNT1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_progressive_external_ophthalmoplegia Autosomal recessive progressive external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rab3gap1_related_disorders Autosomal recessive RAB3GAP1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rag1_related_disorders Autosomal recessive RAG1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rapsn_related_disorders Autosomal recessive RAPSN-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rdh5_related_disorders Autosomal recessive RDH5-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_retinitis_pigmentosa Autosomal recessive retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:autosomal_recessive_retinitis_pigmentosa_congenital_stationary_night_blindness_dominant Autosomal recessive retinitis pigmentosa;Congenital Stationary Night Blindness, Dominant Supplemental_disease_name DISEASE_NAME:autosomal_recessive_retinitis_pigmentosa_retinitis_pigmentosa_33 Autosomal recessive retinitis pigmentosa;Retinitis pigmentosa 33 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rnu4_2_related_neurodevelopmental_disorder Autosomal recessive RNU4-2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rnu4atac_related_disorders Autosomal recessive RNU4ATAC-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_robinow_syndrome_brachydactyly_type_b1 Autosomal recessive Robinow syndrome;Brachydactyly type B1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rpe65_related_disorders Autosomal recessive RPE65-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rpgrip1_related_disorders Autosomal recessive RPGRIP1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rpgrip1l_related_disorders Autosomal recessive RPGRIP1L-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_rtel1_related_disorders Autosomal recessive RTEL1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_sensorineural_hearing_loss Autosomal recessive sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:autosomal_recessive_serpina1_related_disorders Autosomal recessive SERPINA1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_severe_congenital_neutropenia_due_to_csf3r_deficiency_hereditary_neutrophilia Autosomal recessive severe congenital neutropenia due to CSF3R deficiency;Hereditary neutrophilia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_sideroblastic_anemia Autosomal recessive sideroblastic anemia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_slc26a4_related_disorders Autosomal recessive SLC26A4-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_smpd1_related_disorders autosomal recessive SMPD1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spastic_ataxia Autosomal recessive spastic ataxia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spastic_paraplegia_type_59 Autosomal recessive spastic paraplegia type 59 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spastic_paraplegia_type_70 Autosomal recessive spastic paraplegia type 70 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spastic_paraplegia_type_76 Autosomal recessive spastic paraplegia type 76 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spastic_paraplegia_type_78 Autosomal recessive spastic paraplegia type 78 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spastic_paraplegia_type_78_kufor_rakeb_syndrome Autosomal recessive spastic paraplegia type 78;Kufor-Rakeb syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spata7_related_disorders Autosomal recessive SPATA7-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spg11_related_disorders Autosomal recessive SPG11-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spinocerebellar_ataxia_12_developmental_and_epileptic_encephalopathy_1 Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spinocerebellar_ataxia_12_developmental_and_epileptic_encephalopathy_28 Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spinocerebellar_ataxia_12_developmental_and_epileptic_encephalopathy_28_malignant_tumor_of_esophagus Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28;Malignant tumor of esophagus Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spinocerebellar_ataxia_12_malignant_tumor_of_esophagus_developmental_and_epileptic_encephalopathy_28 Autosomal recessive spinocerebellar ataxia 12;Malignant tumor of esophagus;Developmental and epileptic encephalopathy, 28 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spinocerebellar_ataxia_13_spinocerebellar_ataxia_44 Autosomal recessive spinocerebellar ataxia 13;Spinocerebellar ataxia 44 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spinocerebellar_ataxia_14_spinocerebellar_ataxia_type_5 Autosomal recessive spinocerebellar ataxia 14;Spinocerebellar ataxia type 5 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spinocerebellar_ataxia_16_spinocerebellar_ataxia_48 Autosomal recessive spinocerebellar ataxia 16;Spinocerebellar ataxia 48 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spinocerebellar_ataxia_7_neuronal_ceroid_lipofuscinosis_2 Autosomal recessive spinocerebellar ataxia 7;Neuronal ceroid lipofuscinosis 2 Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spondylometaphyseal_dysplasia_megarbane_type Autosomal recessive spondylometaphyseal dysplasia, Megarbane type Supplemental_disease_name DISEASE_NAME:autosomal_recessive_spta1_related_disorders Autosomal recessive SPTA1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_srd5a3_related_disorders Autosomal recessive SRD5A3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_stickler_syndrome Autosomal recessive Stickler syndrome Supplemental_disease_name DISEASE_NAME:autosomal_recessive_syndrome_of_syndactyly_undescended_testes_and_central_nervous_system_defects Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects Supplemental_disease_name DISEASE_NAME:autosomal_recessive_synj1_related_disorders Autosomal recessive SYNJ1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_tbc1d24_related_disorders Autosomal recessive TBC1D24-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_tbce_related_disorders autosomal recessive TBCE-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_tctn3_related_disorders Autosomal recessive TCTN3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_titinopathy Autosomal recessive titinopathy Supplemental_disease_name DISEASE_NAME:autosomal_recessive_tk2_related_disorders Autosomal recessive TK2-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_tor1aip1_related_disorders Autosomal recessive TOR1AIP1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_tpp1_related_disorders Autosomal recessive TPP1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_trim32_related_disorders Autosomal recessive TRIM32-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_tspear_related_disorders Autosomal recessive TSPEAR-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ttn_related_disorders Autosomal recessive TTN-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_tyr_related_disorders Autosomal recessive TYR-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ugt1a1_related_disorders Autosomal recessive UGT1A1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ush2a_related_disorders Autosomal recessive USH2A-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_vps33b_related_disorders Autosomal recessive VPS33B-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_wdr35_related_disorders Autosomal recessive WDR35-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_woolly_hair Autosomal recessive woolly hair Supplemental_disease_name DISEASE_NAME:autosomal_recessive_wwox_related_disorders Autosomal recessive WWOX-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_xylt1_related_disorders Autosomal recessive XYLT1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_zmpste24_related_disorders Autosomal recessive ZMPSTE24-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_znf423_related_disorders Autosomal recessive ZNF423-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_retinitis_pigmentosa Autosomal retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:autosomal_semi_dominant_severe_lipodystrophic_laminopathy Autosomal semi-dominant severe lipodystrophic laminopathy Supplemental_disease_name DISEASE_NAME:autosomal_semidominant_abcc8_related_disorders Autosomal semidominant ABCC8-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_semidominant_apob_related_disorders Autosomal semidominant APOB-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_semidominant_cfap43_related_disorders Autosomal semidominant CFAP43-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_semidominant_col4a3_related_disorders Autosomal semidominant COL4A3-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_semidominant_ryr1_related_disorders Autosomal semidominant RYR1-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_systemic_lupus_erythematosus_type_16 Autosomal systemic lupus erythematosus type 16 Supplemental_disease_name DISEASE_NAME:auts2_related_disorder AUTS2-related disorder Supplemental_disease_name DISEASE_NAME:auts2_related_neurodevelopmental_disorder AUTS2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:av_junctional_rhythm AV junctional rhythm Supplemental_disease_name DISEASE_NAME:av_junctional_rhythm_ventricular_tachycardia AV junctional rhythm;Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:avascular_necrosis_of_femoral_head_primary_1 Avascular necrosis of femoral head, primary, 1 Supplemental_disease_name DISEASE_NAME:avascular_necrosis_of_femoral_head_primary_2 Avascular necrosis of femoral head, primary, 2 Supplemental_disease_name DISEASE_NAME:avil_related_disorder AVIL-related disorder Supplemental_disease_name DISEASE_NAME:avp_related_disorder AVP-related disorder Supplemental_disease_name DISEASE_NAME:avpr1a_related_disorder AVPR1A-related disorder Supplemental_disease_name DISEASE_NAME:avpr2_related_disorder AVPR2-related disorder Supplemental_disease_name DISEASE_NAME:axenfeld_rieger_anomaly_with_partially_absent_eye_muscles_distinctive_face_hydrocephaly_and_skeletal_abnormalities Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities Supplemental_disease_name DISEASE_NAME:axenfeld_rieger_syndrome_type_1_anterior_segment_dysgenesis_4 Axenfeld-Rieger syndrome type 1;Anterior segment dysgenesis 4 Supplemental_disease_name DISEASE_NAME:axenfeld_rieger_syndrome_type_3_anterior_segment_dysgenesis_3 Axenfeld-Rieger syndrome type 3;Anterior segment dysgenesis 3 Supplemental_disease_name DISEASE_NAME:axenfeld_rieger_syndrome_type_3_chromosome_6pter_p24_deletion_syndrome_anterior_segment_dysgenesis_3 Axenfeld-Rieger syndrome type 3;Chromosome 6pter-p24 deletion syndrome;Anterior segment dysgenesis 3 Supplemental_disease_name DISEASE_NAME:axial_hypotonia_stereotypic_movement_disorder_abnormal_optic_nerve_morphology_strabismus_global_developmental_delay Axial hypotonia;Stereotypic movement disorder;Abnormal optic nerve morphology;Strabismus;Global developmental delay Supplemental_disease_name DISEASE_NAME:axial_myopathy_late_onset Axial myopathy, late-onset Supplemental_disease_name DISEASE_NAME:axial_spondylometaphyseal_dysplasia_retinal_dystrophy_with_or_without_macular_staphyloma Axial spondylometaphyseal dysplasia;Retinal dystrophy with or without macular staphyloma Supplemental_disease_name DISEASE_NAME:axillary_freckling_cafe_au_lait_spot_plexiform_neurofibroma Axillary freckling;Cafe-au-lait spot;Plexiform neurofibroma Supplemental_disease_name DISEASE_NAME:axillary_freckling_cafe_au_lait_spots_multiple_focal_t2_hyperintense_basal_ganglia_lesion Axillary freckling;Cafe au lait spots, multiple;Focal T2 hyperintense basal ganglia lesion Supplemental_disease_name DISEASE_NAME:axillary_freckling_cafe_au_lait_spots_multiple_neurofibroma_optic_nerve_glioma Axillary freckling;Cafe au lait spots, multiple;Neurofibroma;Optic nerve glioma Supplemental_disease_name DISEASE_NAME:axillary_odor Axillary odor Supplemental_disease_name DISEASE_NAME:axin1_related_disorder AXIN1-related disorder Supplemental_disease_name DISEASE_NAME:axin2_related_attenuated_familial_adenomatous_polyposis AXIN2-related attenuated familial adenomatous polyposis Supplemental_disease_name DISEASE_NAME:axin2_related_attenuated_familial_adenomatous_polyposis_oligodontia_cancer_predisposition_syndrome AXIN2-related attenuated familial adenomatous polyposis;Oligodontia-cancer predisposition syndrome Supplemental_disease_name DISEASE_NAME:axin2_related_disorder AXIN2-related disorder Supplemental_disease_name DISEASE_NAME:axl_related_disorder AXL-related disorder Supplemental_disease_name DISEASE_NAME:axon_pathfinding_cardiac_ocular_and_genital_defects_corpus_callosum_agenesis_of Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:ayme_gripp_syndrome_cataract_21_multiple_types Ayme-Gripp syndrome;Cataract 21 multiple types Supplemental_disease_name DISEASE_NAME:azathioprine_response Azathioprine response Supplemental_disease_name DISEASE_NAME:azathioprine_response_toxicity azathioprine response - Toxicity Supplemental_disease_name DISEASE_NAME:azoospermia_obstructive_with_nephrolithiasis Azoospermia, obstructive, with nephrolithiasis Supplemental_disease_name DISEASE_NAME:b2m_related_condition B2M-related condition Supplemental_disease_name DISEASE_NAME:b3galnt1_related_disorder B3GALNT1-related disorder Supplemental_disease_name DISEASE_NAME:b3galnt2_related_disorder B3GALNT2-related disorder Supplemental_disease_name DISEASE_NAME:b3galt6_congenital_disorder_of_glycosylation B3GALT6-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:b3galt6_related_disorder B3GALT6-related disorder Supplemental_disease_name DISEASE_NAME:b3gat3_related_disorder B3GAT3-related disorder Supplemental_disease_name DISEASE_NAME:b3glct_related_disorder B3GLCT-related disorder Supplemental_disease_name DISEASE_NAME:b3gnt2_related_disorder B3GNT2-related disorder Supplemental_disease_name DISEASE_NAME:b4galnt1_related_disorder B4GALNT1-related disorder Supplemental_disease_name DISEASE_NAME:b4galt1_congenital_disorder_of_glycosylation B4GALT1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:b4galt1_related_disorder B4GALT1-related disorder Supplemental_disease_name DISEASE_NAME:b4galt7_related_disorder B4GALT7-related disorder Supplemental_disease_name DISEASE_NAME:b4gat1_related_disorder B4GAT1-related disorder Supplemental_disease_name DISEASE_NAME:b9d1_related_disorder B9D1-related disorder Supplemental_disease_name DISEASE_NAME:b9d2_related_disorder B9D2-related disorder Supplemental_disease_name DISEASE_NAME:b_cell_childhood_acute_lymphoblastic_leukemia B-cell childhood acute lymphoblastic leukemia Supplemental_disease_name DISEASE_NAME:b_cell_immunodeficiency B-cell immunodeficiency Supplemental_disease_name DISEASE_NAME:b_cell_immunodeficiency_distal_limb_anomalies_and_urogenital_malformations B-cell immunodeficiency, distal limb anomalies, and urogenital malformations Supplemental_disease_name DISEASE_NAME:b_cell_non_hodgkin_lymphoma B-cell non-Hodgkin lymphoma Supplemental_disease_name DISEASE_NAME:b_cell_tumor B-cell tumor Supplemental_disease_name DISEASE_NAME:b_lymphoblastic_leukemia_lymphoma_no_icd_o_subtype B lymphoblastic leukemia lymphoma, no ICD-O subtype Supplemental_disease_name DISEASE_NAME:b_lymphoblastic_leukemia_lymphoma_no_icd_o_subtype_lymphoma B lymphoblastic leukemia lymphoma, no ICD-O subtype;Lymphoma Supplemental_disease_name DISEASE_NAME:b_lymphoblastic_leukemia_lymphoma_not_otherwise_specified B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified Supplemental_disease_name DISEASE_NAME:b_lymphoblastic_leukemia_lymphoma_with_t_12_21_p13_q22_tel_aml1_etv6_runx1 B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) Supplemental_disease_name DISEASE_NAME:baat_related_disorder BAAT-related disorder Supplemental_disease_name DISEASE_NAME:babinski_sign_spastic_paraparesis_hyperreflexia Babinski sign;Spastic paraparesis;Hyperreflexia Supplemental_disease_name DISEASE_NAME:bace2_related_disorder BACE2-related disorder Supplemental_disease_name DISEASE_NAME:bach1_related_disorder BACH1-related disorder Supplemental_disease_name DISEASE_NAME:bach2_related_disorder BACH2-related disorder Supplemental_disease_name DISEASE_NAME:bacteremia_susceptibility Bacteremia, susceptibility Supplemental_disease_name DISEASE_NAME:bacteremia_susceptibility_to_2 Bacteremia, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:bafopathy BAFopathy Supplemental_disease_name DISEASE_NAME:bag3_related_disorder BAG3-related disorder Supplemental_disease_name DISEASE_NAME:baiap3_related_disorder BAIAP3-related disorder Supplemental_disease_name DISEASE_NAME:bak_platelet_specific_antigen BAK PLATELET-SPECIFIC ANTIGEN Supplemental_disease_name DISEASE_NAME:baker_gordon_syndrome Baker-Gordon syndrome Supplemental_disease_name DISEASE_NAME:balance_problems_intention_tremor_vertigo_disturbance_in_speech Balance problems;Intention tremor;Vertigo;Disturbance in speech Supplemental_disease_name DISEASE_NAME:baller_gerold_syndrome_rapadilino_syndrome Baller-Gerold syndrome;Rapadilino syndrome Supplemental_disease_name DISEASE_NAME:baller_gerold_syndrome_rapadilino_syndrome_rothmund_thomson_syndrome Baller-Gerold syndrome;Rapadilino syndrome;Rothmund-Thomson syndrome Supplemental_disease_name DISEASE_NAME:baller_gerold_syndrome_rapadilino_syndrome_rothmund_thomson_syndrome_type_2 Baller-Gerold syndrome;Rapadilino syndrome;Rothmund-Thomson syndrome type 2 Supplemental_disease_name DISEASE_NAME:baller_gerold_syndrome_rothmund_thomson_syndrome_rapadilino_syndrome Baller-Gerold syndrome;Rothmund-Thomson syndrome;Rapadilino syndrome Supplemental_disease_name DISEASE_NAME:baller_gerold_syndrome_rothmund_thomson_syndrome_type_2_rapadilino_syndrome Baller-Gerold syndrome;Rothmund-Thomson syndrome type 2;Rapadilino syndrome Supplemental_disease_name DISEASE_NAME:bamforth_lazarus_syndrome_thyroid_cancer_nonmedullary_4 Bamforth-Lazarus syndrome;Thyroid cancer, nonmedullary, 4 Supplemental_disease_name DISEASE_NAME:band_heterotopia_of_brain Band heterotopia of brain Supplemental_disease_name DISEASE_NAME:bannayan_riley_ruvalcaba_syndrome_cowden_syndrome_1_macrocephaly_autism_syndrome Bannayan-Riley-Ruvalcaba syndrome;Cowden syndrome 1;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:bannayan_riley_ruvalcaba_syndrome_cowden_syndrome_pten_hamartoma_tumor_syndrome_macrocephaly_autism_syndrome Bannayan-Riley-Ruvalcaba syndrome;Cowden syndrome;PTEN hamartoma tumor syndrome;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:bannayan_riley_ruvalcaba_syndrome_pten_hamartoma_tumor_syndrome_cowden_syndrome Bannayan-Riley-Ruvalcaba syndrome;PTEN hamartoma tumor syndrome;Cowden syndrome Supplemental_disease_name DISEASE_NAME:bannayan_riley_ruvalcaba_syndrome_pten_hamartoma_tumor_syndrome_cowden_syndrome_1 Bannayan-Riley-Ruvalcaba syndrome;PTEN hamartoma tumor syndrome;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:bap1_cancer_syndrome BAP1 Cancer Syndrome Supplemental_disease_name DISEASE_NAME:bap1_related_disorder BAP1-related disorder Supplemental_disease_name DISEASE_NAME:bap1_related_tumor_predisposition_syndrome BAP1-related tumor predisposition syndrome Supplemental_disease_name DISEASE_NAME:bap1_related_tumor_predisposition_syndrome_kury_isidor_syndrome BAP1-related tumor predisposition syndrome;Kury-Isidor syndrome Supplemental_disease_name DISEASE_NAME:bap1_related_tumor_predisposition_syndrome_kury_isidor_syndrome_melanoma_uveal_susceptibility_to_2 BAP1-related tumor predisposition syndrome;Kury-Isidor syndrome;Melanoma, uveal, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:bap1_related_tumor_predisposition_syndrome_melanoma_uveal_susceptibility_to_2_kury_isidor_syndrome BAP1-related tumor predisposition syndrome;Melanoma, uveal, susceptibility to, 2;Kury-Isidor syndrome Supplemental_disease_name DISEASE_NAME:baraitser_winter_syndrome_1_developmental_malformations_deafness_dystonia_syndrome Baraitser-Winter syndrome 1;Developmental malformations-deafness-dystonia syndrome Supplemental_disease_name DISEASE_NAME:baraitser_winter_syndrome_2_autosomal_dominant_nonsyndromic_hearing_loss_20 Baraitser-winter syndrome 2;Autosomal dominant nonsyndromic hearing loss 20 Supplemental_disease_name DISEASE_NAME:baralle_macken_syndrome Baralle-Macken syndrome Supplemental_disease_name DISEASE_NAME:bard1_related_cancer_predisposition BARD1-related cancer predisposition Supplemental_disease_name DISEASE_NAME:bard1_related_cancer_predisposition_familial_cancer_of_breast BARD1-related cancer predisposition;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:bard1_related_disorder BARD1-related disorder Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_11_sarcotubular_myopathy Bardet-Biedl syndrome 11;Sarcotubular myopathy Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_12_modifier_of Bardet-Biedl syndrome 12, modifier of Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_13_joubert_syndrome_28_meckel_syndrome_type_1 Bardet-Biedl syndrome 13;Joubert syndrome 28;Meckel syndrome, type 1 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_13_meckel_syndrome_type_1_joubert_syndrome_28 Bardet-Biedl syndrome 13;Meckel syndrome, type 1;Joubert syndrome 28 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_coach_syndrome_1_meckel_syndrome_type_3_joubert_syndrome_6_nephronophthisis_11 Bardet-Biedl syndrome 14;COACH syndrome 1;Meckel syndrome, type 3;Joubert syndrome 6;Nephronophthisis 11 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_joubert_syndrome_5 Bardet-Biedl syndrome 14;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_joubert_syndrome_5_senior_loken_syndrome_6_meckel_syndrome_type_4_leber_congenital_amaurosis_10 Bardet-Biedl syndrome 14;Joubert syndrome 5;Senior-Loken syndrome 6;Meckel syndrome, type 4;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_joubert_syndrome_6_nephronophthisis_11_coach_syndrome_1_meckel_syndrome_type_3 Bardet-Biedl syndrome 14;Joubert syndrome 6;Nephronophthisis 11;COACH syndrome 1;Meckel syndrome, type 3 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5_senior_loken_syndrome_6 Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_meckel_syndrome_type_4_senior_loken_syndrome_6_joubert_syndrome_5 Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Meckel syndrome, type 4;Senior-Loken syndrome 6;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_meckel_syndrome_type_4_joubert_syndrome_5_leber_congenital_amaurosis_10_senior_loken_syndrome_6 Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Joubert syndrome 5;Leber congenital amaurosis 10;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_meckel_syndrome_type_4_joubert_syndrome_5_senior_loken_syndrome_6 Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Joubert syndrome 5;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_meckel_syndrome_type_4_leber_congenital_amaurosis_10_joubert_syndrome_5_senior_loken_syndrome_6 Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Leber congenital amaurosis 10;Joubert syndrome 5;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_modifier_of Bardet-Biedl syndrome 14, modifier of Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_senior_loken_syndrome_6_joubert_syndrome_5_leber_congenital_amaurosis_10_meckel_syndrome_type_4 Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5;Leber congenital amaurosis 10;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_senior_loken_syndrome_6_joubert_syndrome_5_meckel_syndrome_type_4_leber_congenital_amaurosis_10 Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5;Meckel syndrome, type 4;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_senior_loken_syndrome_6_leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5 Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_14_senior_loken_syndrome_6_meckel_syndrome_type_4_joubert_syndrome_5_leber_congenital_amaurosis_10 Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Meckel syndrome, type 4;Joubert syndrome 5;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_15_heart_defect_tongue_hamartoma_polysyndactyly_syndrome Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_16_senior_loken_syndrome_7 Bardet-Biedl syndrome 16;Senior-Loken syndrome 7 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_1_10_digenic Bardet-biedl syndrome 1/10, digenic Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_1_2_digenic Bardet-biedl syndrome 1/2, digenic Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_1_7_digenic Bardet-Biedl syndrome 1/7, digenic Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_1_bardet_biedl_syndrome_3_retinitis_pigmentosa_55 Bardet-Biedl syndrome 1;Bardet-Biedl syndrome 3;Retinitis pigmentosa 55 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_1_modifier_of Bardet-Biedl syndrome 1, modifier of Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_1_retinitis_pigmentosa_55_bardet_biedl_syndrome_3 Bardet-Biedl syndrome 1;Retinitis pigmentosa 55;Bardet-Biedl syndrome 3 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_1_retinitis_pigmentosa_bardet_biedl_syndrome_3_retinitis_pigmentosa_55 Bardet-Biedl syndrome 1;Retinitis pigmentosa;Bardet-Biedl syndrome 3;Retinitis pigmentosa 55 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_20_retinitis_pigmentosa_71_short_rib_thoracic_dysplasia_10_with_or_without_polydactyly Bardet-Biedl syndrome 20;Retinitis pigmentosa 71;Short-rib thoracic dysplasia 10 with or without polydactyly Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_20_short_rib_thoracic_dysplasia_10_with_or_without_polydactyly_retinitis_pigmentosa_71 Bardet-Biedl syndrome 20;Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_21_retinitis_pigmentosa_cone_rod_dystrophy_16 Bardet-biedl syndrome 21;Retinitis pigmentosa;Cone-rod dystrophy 16 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_2_4_digenic Bardet-biedl syndrome 2/4, digenic Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_2_6_digenic BARDET-BIEDL SYNDROME 2/6, DIGENIC Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_2_retinitis_pigmentosa_74 Bardet-Biedl syndrome 2;Retinitis pigmentosa 74 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_3_bardet_biedl_syndrome_1_retinitis_pigmentosa_55 Bardet-Biedl syndrome 3;Bardet-Biedl syndrome 1;Retinitis pigmentosa 55 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_3_retinitis_pigmentosa_55 Bardet-Biedl syndrome 3;Retinitis pigmentosa 55 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_3_retinitis_pigmentosa_55_bardet_biedl_syndrome_1 Bardet-Biedl syndrome 3;Retinitis pigmentosa 55;Bardet-Biedl syndrome 1 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_3_retinitis_pigmentosa_retinitis_pigmentosa_55_bardet_biedl_syndrome_1 Bardet-Biedl syndrome 3;Retinitis pigmentosa;Retinitis pigmentosa 55;Bardet-Biedl syndrome 1 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_6_10_digenic Bardet-biedl syndrome 6/10, digenic Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_6_mckusick_kaufman_syndrome Bardet-Biedl syndrome 6;McKusick-Kaufman syndrome Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_8_retinitis_pigmentosa_51 Bardet-Biedl syndrome 8;Retinitis pigmentosa 51 Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_mckusick_kaufman_syndrome Bardet-Biedl syndrome;McKusick-Kaufman syndrome Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_retinitis_pigmentosa_71_short_rib_thoracic_dysplasia_10_with_or_without_polydactyly Bardet-Biedl syndrome;Retinitis pigmentosa 71;Short-rib thoracic dysplasia 10 with or without polydactyly Supplemental_disease_name DISEASE_NAME:bardet_biedl_syndrome_senior_loken_syndrome_6_leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5 Bardet-Biedl syndrome;Senior-Loken syndrome 6;Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:bare_lymphocyte_syndrome Bare lymphocyte syndrome Supplemental_disease_name DISEASE_NAME:barrett_esophagus_esophageal_adenocarcinoma BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA Supplemental_disease_name DISEASE_NAME:barrett_s_neoplasia Barrett's neoplasia Supplemental_disease_name DISEASE_NAME:bartsocas_papas_syndrome Bartsocas-Papas syndrome Supplemental_disease_name DISEASE_NAME:bartsocas_papas_syndrome_1 Bartsocas-Papas syndrome 1 Supplemental_disease_name DISEASE_NAME:bartsocas_papas_syndrome_1_curly_hair_ankyloblepharon_nail_dysplasia_syndrome Bartsocas-Papas syndrome 1;Curly hair, ankyloblepharon, nail dysplasia syndrome Supplemental_disease_name DISEASE_NAME:bartsocas_papas_syndrome_2 Bartsocas-Papas syndrome 2 Supplemental_disease_name DISEASE_NAME:bartter_disease_type_3_autosomal_dominant_hypocalcemia_1_neonatal_severe_primary_hyperparathyroidism_familial_hypoparathyroidism_familial_hypocalciuric_hypercalcemia_1 Bartter disease type 3;Autosomal dominant hypocalcemia 1;Neonatal severe primary hyperparathyroidism;Familial hypoparathyroidism;Familial hypocalciuric hypercalcemia 1 Supplemental_disease_name DISEASE_NAME:bartter_disease_type_3_bartter_disease_type_4b Bartter disease type 3;Bartter disease type 4B Supplemental_disease_name DISEASE_NAME:bartter_disease_type_4b_bartter_disease_type_3 Bartter disease type 4B;Bartter disease type 3 Supplemental_disease_name DISEASE_NAME:bartter_syndrome Bartter syndrome Supplemental_disease_name DISEASE_NAME:bartter_syndrome_familial_hypokalemia_hypomagnesemia Bartter syndrome;Familial hypokalemia-hypomagnesemia Supplemental_disease_name DISEASE_NAME:bartter_syndrome_type_3_with_hypocalciuria Bartter syndrome, type 3, with hypocalciuria Supplemental_disease_name DISEASE_NAME:bartter_syndrome_type_4 Bartter syndrome type 4 Supplemental_disease_name DISEASE_NAME:bartter_syndrome_type_4b_with_sensorineural_deafness BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS Supplemental_disease_name DISEASE_NAME:bartter_syndrome_with_hypocalcemia Bartter syndrome with hypocalcemia Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_somatic Basal cell carcinoma, somatic Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1 Basal cell carcinoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1_basal_cell_nevus_syndrome_1 Basal cell carcinoma, susceptibility to, 1;Basal cell nevus syndrome 1 Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1_basal_cell_nevus_syndrome_1_holoprosencephaly_7 Basal cell carcinoma, susceptibility to, 1;Basal cell nevus syndrome 1;Holoprosencephaly 7 Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1_capillary_malformation_arteriovenous_malformation_1 Basal cell carcinoma, susceptibility to, 1;Capillary malformation-arteriovenous malformation 1 Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1_congenital_hypothalamic_hamartoma_syndrome_curry_jones_syndrome Basal cell carcinoma, susceptibility to, 1;Congenital hypothalamic hamartoma syndrome;Curry-Jones syndrome Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1_gorlin_syndrome_holoprosencephaly_7 Basal cell carcinoma, susceptibility to, 1;Gorlin syndrome;Holoprosencephaly 7 Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1_gorlin_syndrome_medulloblastoma Basal cell carcinoma, susceptibility to, 1;Gorlin syndrome;Medulloblastoma Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1_holoprosencephaly_7_basal_cell_nevus_syndrome_1 Basal cell carcinoma, susceptibility to, 1;Holoprosencephaly 7;Basal cell nevus syndrome 1 Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1_holoprosencephaly_7_gorlin_syndrome Basal cell carcinoma, susceptibility to, 1;Holoprosencephaly 7;Gorlin syndrome Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_1_medulloblastoma Basal cell carcinoma, susceptibility to, 1;Medulloblastoma Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_4 Basal cell carcinoma, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:basal_cell_carcinoma_susceptibility_to_7 Basal cell carcinoma, susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:basal_cell_nevus_syndrome_1_basal_cell_carcinoma_susceptibility_to_1_holoprosencephaly_7 Basal cell nevus syndrome 1;Basal cell carcinoma, susceptibility to, 1;Holoprosencephaly 7 Supplemental_disease_name DISEASE_NAME:basal_cell_nevus_syndrome_1_holoprosencephaly_7 Basal cell nevus syndrome 1;Holoprosencephaly 7 Supplemental_disease_name DISEASE_NAME:basal_cell_nevus_syndrome_1_holoprosencephaly_7_basal_cell_carcinoma_susceptibility_to_1 Basal cell nevus syndrome 1;Holoprosencephaly 7;Basal cell carcinoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:basal_cell_nevus_syndrome_2_familial_meningioma_joubert_syndrome_32_medulloblastoma Basal cell nevus syndrome 2;Familial meningioma;Joubert syndrome 32;Medulloblastoma Supplemental_disease_name DISEASE_NAME:basal_cell_nevus_syndrome_2_joubert_syndrome_32 Basal cell nevus syndrome 2;Joubert syndrome 32 Supplemental_disease_name DISEASE_NAME:basal_cell_nevus_syndrome_2_medulloblastoma_joubert_syndrome_32_familial_meningioma Basal cell nevus syndrome 2;Medulloblastoma;Joubert syndrome 32;Familial meningioma Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_10_autosomal_recessive Basal ganglia calcification, idiopathic, 10, autosomal recessive Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_11_autosomal_recessive Basal ganglia calcification, idiopathic, 11, autosomal recessive Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_4 Basal ganglia calcification, idiopathic, 4 Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_4_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_infantile_myofibromatosis_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome Basal ganglia calcification, idiopathic, 4;Acroosteolysis-keloid-like lesions-premature aging syndrome;Infantile myofibromatosis;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_4_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_infantile_myofibromatosis Basal ganglia calcification, idiopathic, 4;Acroosteolysis-keloid-like lesions-premature aging syndrome;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Infantile myofibromatosis Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_4_infantile_myofibromatosis_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis;Acroosteolysis-keloid-like lesions-premature aging syndrome;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_4_infantile_myofibromatosis_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_acroosteolysis_keloid_like_lesions_premature_aging_syndrome Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Acroosteolysis-keloid-like lesions-premature aging syndrome Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_4_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_infantile_myofibromatosis Basal ganglia calcification, idiopathic, 4;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Acroosteolysis-keloid-like lesions-premature aging syndrome;Infantile myofibromatosis Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_4_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_infantile_myofibromatosis_acroosteolysis_keloid_like_lesions_premature_aging_syndrome Basal ganglia calcification, idiopathic, 4;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Infantile myofibromatosis;Acroosteolysis-keloid-like lesions-premature aging syndrome Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_5 Basal ganglia calcification, idiopathic, 5 Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_5_familial_meningioma_idiopathic_basal_ganglia_calcification_1 Basal ganglia calcification, idiopathic, 5;Familial meningioma;Idiopathic basal ganglia calcification 1 Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_6 Basal ganglia calcification, idiopathic, 6 Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_7_autosomal_recessive Basal ganglia calcification, idiopathic, 7, autosomal recessive Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_8_autosomal_recessive Basal ganglia calcification, idiopathic, 8, autosomal recessive Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_9_autosomal_recessive Basal ganglia calcification, idiopathic, 9, autosomal recessive Supplemental_disease_name DISEASE_NAME:basal_ganglia_calcification_idiopathic_childhood_onset Basal ganglia calcification, idiopathic, childhood-onset Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_age_related_macular_degeneration_4 Basal laminar drusen;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_age_related_macular_degeneration_4_atypical_hemolytic_uremic_syndrome_factor_h_deficiency Basal laminar drusen;Age related macular degeneration 4;Atypical hemolytic-uremic syndrome;Factor H deficiency Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_age_related_macular_degeneration_4_factor_h_deficiency_atypical_hemolytic_uremic_syndrome Basal laminar drusen;Age related macular degeneration 4;Factor H deficiency;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_age_related_macular_degeneration_4_factor_h_deficiency_hemolytic_uremic_syndrome_atypical_susceptibility_to_1 Basal laminar drusen;Age related macular degeneration 4;Factor H deficiency;Hemolytic uremic syndrome, atypical, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_age_related_macular_degeneration_4_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_factor_h_deficiency Basal laminar drusen;Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_atypical_hemolytic_uremic_syndrome Basal laminar drusen;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_atypical_hemolytic_uremic_syndrome_age_related_macular_degeneration_4_factor_h_deficiency Basal laminar drusen;Atypical hemolytic-uremic syndrome;Age related macular degeneration 4;Factor H deficiency Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_atypical_hemolytic_uremic_syndrome_factor_h_deficiency_age_related_macular_degeneration_4 Basal laminar drusen;Atypical hemolytic-uremic syndrome;Factor H deficiency;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_factor_h_deficiency_age_related_macular_degeneration_4 Basal laminar drusen;Factor H deficiency;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_factor_h_deficiency_age_related_macular_degeneration_4_atypical_hemolytic_uremic_syndrome Basal laminar drusen;Factor H deficiency;Age related macular degeneration 4;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_factor_h_deficiency_age_related_macular_degeneration_4_hemolytic_uremic_syndrome_atypical_susceptibility_to_1 Basal laminar drusen;Factor H deficiency;Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_factor_h_deficiency_atypical_hemolytic_uremic_syndrome_age_related_macular_degeneration_4 Basal laminar drusen;Factor H deficiency;Atypical hemolytic-uremic syndrome;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_factor_h_deficiency_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_age_related_macular_degeneration_4 Basal laminar drusen;Factor H deficiency;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_age_related_macular_degeneration_4_factor_h_deficiency Basal laminar drusen;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Age related macular degeneration 4;Factor H deficiency Supplemental_disease_name DISEASE_NAME:basal_laminar_drusen_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_factor_h_deficiency_age_related_macular_degeneration_4 Basal laminar drusen;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:basal_like_breast_cancer Basal-like breast cancer Supplemental_disease_name DISEASE_NAME:baz1a_related_disorder BAZ1A-related disorder Supplemental_disease_name DISEASE_NAME:baz1b_related_disorder BAZ1B-related disorder Supplemental_disease_name DISEASE_NAME:baz2b_associated_neurodevelopmental_disorder BAZ2B-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:baz2b_related_disorder BAZ2B-related disorder Supplemental_disease_name DISEASE_NAME:baz2b_related_neurodevelopmental_disorder BAZ2B-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:bbip1_related_disorder BBIP1-related disorder Supplemental_disease_name DISEASE_NAME:bbox1_related_disorder BBOX1-related disorder Supplemental_disease_name DISEASE_NAME:bbs10_related_ciliopathy BBS10-related ciliopathy Supplemental_disease_name DISEASE_NAME:bbs10_related_disorder BBS10-related disorder Supplemental_disease_name DISEASE_NAME:bbs12_related_ciliopathy BBS12-related ciliopathy Supplemental_disease_name DISEASE_NAME:bbs12_related_disorder BBS12-related disorder Supplemental_disease_name DISEASE_NAME:bbs1_related_ciliopathy BBS1-related ciliopathy Supplemental_disease_name DISEASE_NAME:bbs1_related_disorder BBS1-related disorder Supplemental_disease_name DISEASE_NAME:bbs2_related_ciliopathy BBS2-related ciliopathy Supplemental_disease_name DISEASE_NAME:bbs2_related_disorder BBS2-related disorder Supplemental_disease_name DISEASE_NAME:bbs4_related_disorder BBS4-related disorder Supplemental_disease_name DISEASE_NAME:bbs5_related_disorder BBS5-related disorder Supplemental_disease_name DISEASE_NAME:bbs7_related_ciliopathy BBS7-related ciliopathy Supplemental_disease_name DISEASE_NAME:bbs7_related_disorder BBS7-related disorder Supplemental_disease_name DISEASE_NAME:bbs9_related_ciliopathy BBS9-related ciliopathy Supplemental_disease_name DISEASE_NAME:bbs9_related_disorder BBS9-related disorder Supplemental_disease_name DISEASE_NAME:bcam_related_disorder BCAM-related disorder Supplemental_disease_name DISEASE_NAME:bcap31_related_disorder BCAP31-related disorder Supplemental_disease_name DISEASE_NAME:bcas3_related_disorder BCAS3-related disorder Supplemental_disease_name DISEASE_NAME:bcat1_related_disorder BCAT1-related disorder Supplemental_disease_name DISEASE_NAME:bcat2_related_disorder BCAT2-related disorder Supplemental_disease_name DISEASE_NAME:bche_cynthiana BCHE Cynthiana Supplemental_disease_name DISEASE_NAME:bche_flouride_1 BCHE, flouride 1 Supplemental_disease_name DISEASE_NAME:bche_fluoride_2 BCHE, fluoride 2 Supplemental_disease_name DISEASE_NAME:bche_h_variant BCHE, H variant Supplemental_disease_name DISEASE_NAME:bche_j_variant BCHE, J variant Supplemental_disease_name DISEASE_NAME:bche_johannesburg BCHE Johannesburg Supplemental_disease_name DISEASE_NAME:bche_newfoundland BCHE Newfoundland Supplemental_disease_name DISEASE_NAME:bche_related_disorder BCHE-related disorder Supplemental_disease_name DISEASE_NAME:bckdha_related_disorder BCKDHA-related disorder Supplemental_disease_name DISEASE_NAME:bckdhb_related_disorder BCKDHB-related disorder Supplemental_disease_name DISEASE_NAME:bckdk_related_disorder BCKDK-related disorder Supplemental_disease_name DISEASE_NAME:bcl10_related_disorder BCL10-related disorder Supplemental_disease_name DISEASE_NAME:bcl11a_related_bafopathy BCL11A-related BAFopathy Supplemental_disease_name DISEASE_NAME:bcl11a_related_disorder BCL11A-related disorder Supplemental_disease_name DISEASE_NAME:bcl11a_related_intellectual_disability BCL11A-Related Intellectual Disability Supplemental_disease_name DISEASE_NAME:bcl11b_related_disorder BCL11B-related disorder Supplemental_disease_name DISEASE_NAME:bcl2_related_disorder BCL2-related disorder Supplemental_disease_name DISEASE_NAME:bcl2l11_related_condition BCL2L11-related condition Supplemental_disease_name DISEASE_NAME:bcl2l2_pabpn1_related_disorder BCL2L2-PABPN1-related disorder Supplemental_disease_name DISEASE_NAME:bcl7a_related_disorder BCL7A-related disorder Supplemental_disease_name DISEASE_NAME:bcl9_related_disorder BCL9-related disorder Supplemental_disease_name DISEASE_NAME:bclaf1_related_disorder BCLAF1-related disorder Supplemental_disease_name DISEASE_NAME:bco1_related_disorder BCO1-related disorder Supplemental_disease_name DISEASE_NAME:bcor_related_disorder BCOR-related disorder Supplemental_disease_name DISEASE_NAME:bcorl1_related_disorder BCORL1-related disorder Supplemental_disease_name DISEASE_NAME:bcs1l_related_disorder BCS1L-related disorder Supplemental_disease_name DISEASE_NAME:bdh1_related_disorder BDH1-related disorder Supplemental_disease_name DISEASE_NAME:bdnf_related_disorder BDNF-related disorder Supplemental_disease_name DISEASE_NAME:bdp1_related_disorder BDP1-related disorder Supplemental_disease_name DISEASE_NAME:bdv_syndrome BDV syndrome Supplemental_disease_name DISEASE_NAME:bean1_related_disorder BEAN1-related disorder Supplemental_disease_name DISEASE_NAME:beaulieu_boycott_innes_syndrome Beaulieu-Boycott-Innes syndrome Supplemental_disease_name DISEASE_NAME:beck_fahrner_syndrome Beck-Fahrner syndrome Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_atypical Becker muscular dystrophy, atypical Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_cardiomyopathy_duchenne_muscular_dystrophy_dystrophin_deficiency Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_cardiomyopathy_dystrophin_deficiency_duchenne_muscular_dystrophy Becker muscular dystrophy;Cardiomyopathy;Dystrophin deficiency;Duchenne muscular dystrophy Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_dilated_cardiomyopathy_3b Becker muscular dystrophy;Dilated cardiomyopathy 3B Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_dilated_cardiomyopathy_3b_duchenne_muscular_dystrophy Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_duchenne_muscular_dystrophy Becker muscular dystrophy;Duchenne muscular dystrophy Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_duchenne_muscular_dystrophy_cardiomyopathy_dystrophin_deficiency Becker muscular dystrophy;Duchenne muscular dystrophy;Cardiomyopathy;Dystrophin deficiency Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_duchenne_muscular_dystrophy_dilated_cardiomyopathy_3b Becker muscular dystrophy;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_duchenne_muscular_dystrophy_dystrophin_deficiency_cardiomyopathy Becker muscular dystrophy;Duchenne muscular dystrophy;Dystrophin deficiency;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_dystrophin_deficiency_cardiomyopathy_duchenne_muscular_dystrophy Becker muscular dystrophy;Dystrophin deficiency;Cardiomyopathy;Duchenne muscular dystrophy Supplemental_disease_name DISEASE_NAME:becker_muscular_dystrophy_dystrophin_deficiency_duchenne_muscular_dystrophy_cardiomyopathy Becker muscular dystrophy;Dystrophin deficiency;Duchenne muscular dystrophy;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:becker_nevus_isolated_somatic_mosaic BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC Supplemental_disease_name DISEASE_NAME:becker_nevus_somatic_mosaic BECKER NEVUS, SOMATIC, MOSAIC Supplemental_disease_name DISEASE_NAME:becker_nevus_syndrome Becker nevus syndrome Supplemental_disease_name DISEASE_NAME:becker_nevus_syndrome_developmental_malformations_deafness_dystonia_syndrome_congenital_smooth_muscle_hamartoma_with_or_without_hemihypertrophy_actb_associated_syndromic_thrombocytopenia_baraitser_winter_syndrome_1 Becker nevus syndrome;Developmental malformations-deafness-dystonia syndrome;Congenital smooth muscle hamartoma, with or without hemihypertrophy;ACTB-associated syndromic thrombocytopenia;Baraitser-Winter syndrome 1 Supplemental_disease_name DISEASE_NAME:becker_nevus_syndrome_somatic_mosaic BECKER NEVUS SYNDROME, SOMATIC, MOSAIC Supplemental_disease_name DISEASE_NAME:beckwith_wiedemann_syndrome_due_to_11p15_microdeletion Beckwith-Wiedemann syndrome due to 11p15 microdeletion Supplemental_disease_name DISEASE_NAME:beckwith_wiedemann_syndrome_image_syndrome Beckwith-Wiedemann syndrome;IMAGe syndrome Supplemental_disease_name DISEASE_NAME:beckwith_wiedemann_syndrome_short_qt_syndrome_type_2_atrial_fibrillation_familial_3_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1 Beckwith-Wiedemann syndrome;Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:beckwith_wiedemann_syndrome_silver_russell_syndrome_1 Beckwith-Wiedemann syndrome;Silver-Russell syndrome 1 Supplemental_disease_name DISEASE_NAME:beckwith_wiedemann_syndrome_sotos_syndrome Beckwith-Wiedemann syndrome;Sotos syndrome Supplemental_disease_name DISEASE_NAME:beckwith_wiedemann_syndrome_wilms_tumor_1_silver_russell_syndrome_1_silver_russell_syndrome_3 Beckwith-Wiedemann syndrome;Wilms tumor 1;Silver-Russell syndrome 1;Silver-Russell syndrome 3 Supplemental_disease_name DISEASE_NAME:behavior_disorder Behavior disorder Supplemental_disease_name DISEASE_NAME:behavioral_variant_of_frontotemporal_dementia Behavioral variant of frontotemporal dementia Supplemental_disease_name DISEASE_NAME:behcet_disease Behcet disease Supplemental_disease_name DISEASE_NAME:benign_concentric_annular_macular_dystrophy Benign concentric annular macular dystrophy Supplemental_disease_name DISEASE_NAME:benign_concentric_annular_macular_dystrophy_vitelliform_macular_dystrophy_4 Benign concentric annular macular dystrophy;Vitelliform macular dystrophy 4 Supplemental_disease_name DISEASE_NAME:benign_cystic_nephroma Benign cystic nephroma Supplemental_disease_name DISEASE_NAME:benign_familial_hematuria_autosomal_dominant_alport_syndrome Benign familial hematuria;Autosomal dominant Alport syndrome Supplemental_disease_name DISEASE_NAME:benign_familial_hematuria_autosomal_dominant_alport_syndrome_autosomal_recessive_alport_syndrome Benign familial hematuria;Autosomal dominant Alport syndrome;Autosomal recessive Alport syndrome Supplemental_disease_name DISEASE_NAME:benign_familial_hematuria_autosomal_recessive_alport_syndrome Benign familial hematuria;Autosomal recessive Alport syndrome Supplemental_disease_name DISEASE_NAME:benign_familial_hematuria_autosomal_recessive_alport_syndrome_autosomal_dominant_alport_syndrome Benign familial hematuria;Autosomal recessive Alport syndrome;Autosomal dominant Alport syndrome Supplemental_disease_name DISEASE_NAME:benign_familial_neonatal_infantile_seizures_1 Benign familial neonatal-infantile seizures 1 Supplemental_disease_name DISEASE_NAME:benign_familial_neonatal_infantile_seizures_1_intellectual_disability_developmental_and_epileptic_encephalopathy_11 Benign familial neonatal-infantile seizures 1;Intellectual disability;Developmental and epileptic encephalopathy, 11 Supplemental_disease_name DISEASE_NAME:benign_familial_neonatal_infantile_seizures_1_seizures_benign_familial_infantile_3_scn2a_related_generalized_epilepsy_with_febrile_seizures_plus_developmental_and_epileptic_encephalopathy_11 Benign familial neonatal-infantile seizures 1;Seizures, benign familial infantile, 3;SCN2A-related generalized epilepsy with febrile seizures plus;Developmental and epileptic encephalopathy, 11 Supplemental_disease_name DISEASE_NAME:benign_hereditary_chorea Benign hereditary chorea Supplemental_disease_name DISEASE_NAME:benign_metanephric_tumor Benign metanephric tumor Supplemental_disease_name DISEASE_NAME:benign_neonatal_epilepsy Benign Neonatal Epilepsy Supplemental_disease_name DISEASE_NAME:benign_neonatal_seizures_early_infantile_epileptic_encephalopathy_autosomal_dominant_early_infantile_epileptic_encephalopathy_autosomal_recessive Benign neonatal seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early Infantile Epileptic Encephalopathy, Autosomal Recessive Supplemental_disease_name DISEASE_NAME:benign_paroxysmal_tonic_upgaze_of_childhood_with_ataxia Benign paroxysmal tonic upgaze of childhood with ataxia Supplemental_disease_name DISEASE_NAME:benign_recurrent_intrahepatic_cholestasis_type_1 Benign recurrent intrahepatic cholestasis type 1 Supplemental_disease_name DISEASE_NAME:benign_recurrent_intrahepatic_cholestasis_type_1_cholestasis_intrahepatic_of_pregnancy_1_progressive_familial_intrahepatic_cholestasis_type_1 Benign recurrent intrahepatic cholestasis type 1;Cholestasis, intrahepatic, of pregnancy, 1;Progressive familial intrahepatic cholestasis type 1 Supplemental_disease_name DISEASE_NAME:benign_recurrent_intrahepatic_cholestasis_type_1_progressive_familial_intrahepatic_cholestasis_type_1 Benign recurrent intrahepatic cholestasis type 1;Progressive familial intrahepatic cholestasis type 1 Supplemental_disease_name DISEASE_NAME:benign_recurrent_intrahepatic_cholestasis_type_1_progressive_familial_intrahepatic_cholestasis_type_1_cholestasis_intrahepatic_of_pregnancy_1 Benign recurrent intrahepatic cholestasis type 1;Progressive familial intrahepatic cholestasis type 1;Cholestasis, intrahepatic, of pregnancy, 1 Supplemental_disease_name DISEASE_NAME:benign_recurrent_intrahepatic_cholestasis_type_2 Benign recurrent intrahepatic cholestasis type 2 Supplemental_disease_name DISEASE_NAME:benign_recurrent_intrahepatic_cholestasis_type_2_progressive_familial_intrahepatic_cholestasis_type_2 Benign recurrent intrahepatic cholestasis type 2;Progressive familial intrahepatic cholestasis type 2 Supplemental_disease_name DISEASE_NAME:benign_sporadic_infantile_epilepsy benign sporadic infantile epilepsy Supplemental_disease_name DISEASE_NAME:benign_sporadic_neonatal_infantile_epilepsy benign sporadic neonatal-infantile epilepsy Supplemental_disease_name DISEASE_NAME:bent_bone_dysplasia Bent bone dysplasia Supplemental_disease_name DISEASE_NAME:benta_disease BENTA disease Supplemental_disease_name DISEASE_NAME:benta_disease_immunodeficiency_11b_with_atopic_dermatitis_severe_combined_immunodeficiency_due_to_card11_deficiency BENTA disease;Immunodeficiency 11b with atopic dermatitis;Severe combined immunodeficiency due to CARD11 deficiency Supplemental_disease_name DISEASE_NAME:benta_disease_severe_combined_immunodeficiency_due_to_card11_deficiency BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency Supplemental_disease_name DISEASE_NAME:benta_disease_severe_combined_immunodeficiency_due_to_card11_deficiency_immunodeficiency_11b_with_atopic_dermatitis BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency;Immunodeficiency 11b with atopic dermatitis Supplemental_disease_name DISEASE_NAME:benzene_toxicity_susceptibility_to Benzene toxicity, susceptibility to Supplemental_disease_name DISEASE_NAME:berardinelli_seip_congenital_lipodystrophy Berardinelli-Seip congenital lipodystrophy Supplemental_disease_name DISEASE_NAME:bernard_soulier_syndrome_bernard_soulier_syndrome_type_a2_autosomal_dominant_nonarteritic_anterior_ischemic_optic_neuropathy_susceptibility_to_pseudo_von_willebrand_disease Bernard Soulier syndrome;Bernard-Soulier syndrome, type A2, autosomal dominant;Nonarteritic anterior ischemic optic neuropathy, susceptibility to;Pseudo von Willebrand disease Supplemental_disease_name DISEASE_NAME:bernard_soulier_syndrome_bernard_soulier_syndrome_type_a2_autosomal_dominant_pseudo_von_willebrand_disease Bernard Soulier syndrome;Bernard-Soulier syndrome, type A2, autosomal dominant;Pseudo von Willebrand disease Supplemental_disease_name DISEASE_NAME:bernard_soulier_syndrome_bernard_soulier_syndrome_type_a2_autosomal_dominant_pseudo_von_willebrand_disease_nonarteritic_anterior_ischemic_optic_neuropathy_susceptibility_to Bernard Soulier syndrome;Bernard-Soulier syndrome, type A2, autosomal dominant;Pseudo von Willebrand disease;Nonarteritic anterior ischemic optic neuropathy, susceptibility to Supplemental_disease_name DISEASE_NAME:bernard_soulier_syndrome_nonarteritic_anterior_ischemic_optic_neuropathy_susceptibility_to_bernard_soulier_syndrome_type_a2_autosomal_dominant_pseudo_von_willebrand_disease Bernard Soulier syndrome;Nonarteritic anterior ischemic optic neuropathy, susceptibility to;Bernard-Soulier syndrome, type A2, autosomal dominant;Pseudo von Willebrand disease Supplemental_disease_name DISEASE_NAME:bernard_soulier_syndrome_nonarteritic_anterior_ischemic_optic_neuropathy_susceptibility_to_pseudo_von_willebrand_disease_bernard_soulier_syndrome_type_a2_autosomal_dominant Bernard Soulier syndrome;Nonarteritic anterior ischemic optic neuropathy, susceptibility to;Pseudo von Willebrand disease;Bernard-Soulier syndrome, type A2, autosomal dominant Supplemental_disease_name DISEASE_NAME:bernard_soulier_syndrome_type_a1 Bernard-Soulier syndrome, type A1 Supplemental_disease_name DISEASE_NAME:bernard_soulier_syndrome_type_a2_autosomal_dominant Bernard-Soulier syndrome, type A2, autosomal dominant Supplemental_disease_name DISEASE_NAME:bernard_soulier_syndrome_type_b Bernard-Soulier syndrome, type B Supplemental_disease_name DISEASE_NAME:bernard_soulier_syndrome_type_c Bernard-Soulier syndrome type C Supplemental_disease_name DISEASE_NAME:beryllium_disease_chronic_susceptibility_to Beryllium disease, chronic, susceptibility to Supplemental_disease_name DISEASE_NAME:best1_related_disorder BEST1-related disorder Supplemental_disease_name DISEASE_NAME:best1_related_dominant_retinopathy BEST1-related dominant retinopathy Supplemental_disease_name DISEASE_NAME:beta_2_adrenoreceptor_agonist_reduced_response_to Beta-2-adrenoreceptor agonist, reduced response to Supplemental_disease_name DISEASE_NAME:beta_aminoisobutyric_acid_urinary_excretion_of Beta-aminoisobutyric acid, urinary excretion of Supplemental_disease_name DISEASE_NAME:beta_glucopyranoside_tasting BETA-GLUCOPYRANOSIDE TASTING Supplemental_disease_name DISEASE_NAME:beta_hexosaminidase_a_pseudodeficiency_of BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF Supplemental_disease_name DISEASE_NAME:beta_knossos_thalassemia Beta-Knossos-thalassemia Supplemental_disease_name DISEASE_NAME:beta_malay_thalassemia Beta-Malay-thalassemia Supplemental_disease_name DISEASE_NAME:beta_plus_thalassemia BETA-PLUS-THALASSEMIA Supplemental_disease_name DISEASE_NAME:beta_plus_thalassemia_dominant BETA-PLUS-THALASSEMIA, DOMINANT Supplemental_disease_name DISEASE_NAME:beta_showa_yakushiji_thalassemia Beta-Showa-Yakushiji thalassemia Supplemental_disease_name DISEASE_NAME:beta_thalassemia_hbb_lcrb Beta-thalassemia HBB/LCRB Supplemental_disease_name DISEASE_NAME:beta_thalassemia_lermontov_type BETA-THALASSEMIA, LERMONTOV TYPE Supplemental_disease_name DISEASE_NAME:beta_ureidopropionase_deficiency Beta-ureidopropionase deficiency Supplemental_disease_name DISEASE_NAME:beta_zero_thalassemia Beta zero thalassemia Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1a_collagen_6_related_myopathy_ullrich_congenital_muscular_dystrophy_1a Bethlem myopathy 1A;Collagen 6-related myopathy;Ullrich congenital muscular dystrophy 1A Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1a_dystonia_27 Bethlem myopathy 1A;Dystonia 27 Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1a_dystonia_27_ullrich_congenital_muscular_dystrophy_1a Bethlem myopathy 1A;Dystonia 27;Ullrich congenital muscular dystrophy 1A Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1a_myosclerosis_ullrich_congenital_muscular_dystrophy_1a Bethlem myopathy 1A;Myosclerosis;Ullrich congenital muscular dystrophy 1A Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1a_ullrich_congenital_muscular_dystrophy_1a Bethlem myopathy 1A;Ullrich congenital muscular dystrophy 1A Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1a_ullrich_congenital_muscular_dystrophy_1a_collagen_6_related_myopathy Bethlem myopathy 1A;Ullrich congenital muscular dystrophy 1A;Collagen 6-related myopathy Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1a_ullrich_congenital_muscular_dystrophy_1a_dystonia_27 Bethlem myopathy 1A;Ullrich congenital muscular dystrophy 1A;Dystonia 27 Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1a_ullrich_congenital_muscular_dystrophy_1a_myosclerosis Bethlem myopathy 1A;Ullrich congenital muscular dystrophy 1A;Myosclerosis Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1b_autosomal_recessive BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1b_myosclerosis_ullrich_congenital_muscular_dystrophy_1b Bethlem myopathy 1B;Myosclerosis;Ullrich congenital muscular dystrophy 1B Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1b_ullrich_congenital_muscular_dystrophy_1b Bethlem myopathy 1B;Ullrich congenital muscular dystrophy 1B Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1b_ullrich_congenital_muscular_dystrophy_1b_myosclerosis Bethlem myopathy 1B;Ullrich congenital muscular dystrophy 1B;Myosclerosis Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1c_dystonia_27_ullrich_congenital_muscular_dystrophy_1c Bethlem myopathy 1C;Dystonia 27;Ullrich congenital muscular dystrophy 1C Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1c_ullrich_congenital_muscular_dystrophy_1c Bethlem myopathy 1C;Ullrich congenital muscular dystrophy 1C Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_1c_ullrich_congenital_muscular_dystrophy_1c_dystonia_27 Bethlem myopathy 1C;Ullrich congenital muscular dystrophy 1C;Dystonia 27 Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_2_ullrich_congenital_muscular_dystrophy Bethlem myopathy 2;Ullrich congenital muscular dystrophy Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_2_ullrich_congenital_muscular_dystrophy_1a Bethlem myopathy 2;Ullrich congenital muscular dystrophy 1A Supplemental_disease_name DISEASE_NAME:bethlem_myopathy_2_ullrich_congenital_muscular_dystrophy_2 Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2 Supplemental_disease_name DISEASE_NAME:bf_fa_s BF*FA/S Supplemental_disease_name DISEASE_NAME:bfsp1_related_disorder BFSP1-related disorder Supplemental_disease_name DISEASE_NAME:bfsp2_related_disorder BFSP2-related disorder Supplemental_disease_name DISEASE_NAME:bgn_related_disorder BGN-related disorder Supplemental_disease_name DISEASE_NAME:bhlha9_related_disorder BHLHA9-related disorder Supplemental_disease_name DISEASE_NAME:bhlhe22_related_disorder BHLHE22-related disorder Supplemental_disease_name DISEASE_NAME:bhlhe41_related_disorder BHLHE41-related disorder Supplemental_disease_name DISEASE_NAME:bhmt_related_disorder BHMT-related disorder Supplemental_disease_name DISEASE_NAME:bicc1_related_disorder BICC1-related disorder Supplemental_disease_name DISEASE_NAME:bicd2_related_autosomal_recessive_cohen_like_syndrome BICD2-related Autosomal recessive Cohen Like syndrome Supplemental_disease_name DISEASE_NAME:bicd2_related_disorder BICD2-related disorder Supplemental_disease_name DISEASE_NAME:bicra_related_coffin_siris_syndrome BICRA-related Coffin-Siris syndrome Supplemental_disease_name DISEASE_NAME:bicra_related_disorder BICRA-related disorder Supplemental_disease_name DISEASE_NAME:bicuspid_aortic_valve Bicuspid aortic valve Supplemental_disease_name DISEASE_NAME:bicuspid_aortic_valve_ascending_tubular_aorta_aneurysm Bicuspid aortic valve;Ascending tubular aorta aneurysm Supplemental_disease_name DISEASE_NAME:bifid_nail_abnormal_nail_morphology_ridged_nail_polydactyly_postaxial_type_a1 Bifid nail;Abnormal nail morphology;Ridged nail;Polydactyly, postaxial, type A1 Supplemental_disease_name DISEASE_NAME:bifunctional_peroxisomal_enzyme_deficiency Bifunctional peroxisomal enzyme deficiency Supplemental_disease_name DISEASE_NAME:bifunctional_peroxisomal_enzyme_deficiency_perrault_syndrome Bifunctional peroxisomal enzyme deficiency;Perrault syndrome Supplemental_disease_name DISEASE_NAME:bifunctional_peroxisomal_enzyme_deficiency_perrault_syndrome_1 Bifunctional peroxisomal enzyme deficiency;Perrault syndrome 1 Supplemental_disease_name DISEASE_NAME:bilateral_cleft_lip Bilateral cleft lip Supplemental_disease_name DISEASE_NAME:bilateral_cleft_palate_isolated_agenesis_of_gallbladder_double_outlet_right_ventricle_ventricular_septal_defect Bilateral cleft palate;Isolated agenesis of gallbladder;Double outlet right ventricle;Ventricular septal defect Supplemental_disease_name DISEASE_NAME:bilateral_congenital_mydriasis Bilateral congenital mydriasis Supplemental_disease_name DISEASE_NAME:bilateral_congenital_or_childhood_onset_cataracts Bilateral congenital or childhood onset cataracts Supplemental_disease_name DISEASE_NAME:bilateral_cryptorchidism Bilateral cryptorchidism Supplemental_disease_name DISEASE_NAME:bilateral_frontoparietal_polymicrogyria_polymicrogyria_bilateral_perisylvian_autosomal_recessive Bilateral frontoparietal polymicrogyria;Polymicrogyria, bilateral perisylvian, autosomal recessive Supplemental_disease_name DISEASE_NAME:bilateral_hearing_loss_bilateral_enlarged_vestibular_aqueduct_eva Bilateral hearing loss, bilateral enlarged vestibular aqueduct (EVA) Supplemental_disease_name DISEASE_NAME:bilateral_microphthalmos Bilateral microphthalmos Supplemental_disease_name DISEASE_NAME:bilateral_microtia_deafness_cleft_palate_syndrome Bilateral microtia-deafness-cleft palate syndrome Supplemental_disease_name DISEASE_NAME:bilateral_multifocal_epileptiform_discharges_global_developmental_delay_microcephaly Bilateral multifocal epileptiform discharges;Global developmental delay;Microcephaly Supplemental_disease_name DISEASE_NAME:bilateral_parasagittal_parieto_occipital_polymicrogyria_amyotrophic_lateral_sclerosis_type_11_yunis_varon_syndrome_charcot_marie_tooth_disease_type_4j Bilateral parasagittal parieto-occipital polymicrogyria;Amyotrophic lateral sclerosis type 11;Yunis-Varon syndrome;Charcot-Marie-Tooth disease type 4J Supplemental_disease_name DISEASE_NAME:bilateral_parasagittal_parieto_occipital_polymicrogyria_charcot_marie_tooth_disease_type_4j_amyotrophic_lateral_sclerosis_type_11_yunis_varon_syndrome Bilateral parasagittal parieto-occipital polymicrogyria;Charcot-Marie-Tooth disease type 4J;Amyotrophic lateral sclerosis type 11;Yunis-Varon syndrome Supplemental_disease_name DISEASE_NAME:bilateral_parasagittal_parieto_occipital_polymicrogyria_charcot_marie_tooth_disease_type_4j_yunis_varon_syndrome_amyotrophic_lateral_sclerosis_type_11 Bilateral parasagittal parieto-occipital polymicrogyria;Charcot-Marie-Tooth disease type 4J;Yunis-Varon syndrome;Amyotrophic lateral sclerosis type 11 Supplemental_disease_name DISEASE_NAME:bilateral_parasagittal_parieto_occipital_polymicrogyria_yunis_varon_syndrome_charcot_marie_tooth_disease_type_4j Bilateral parasagittal parieto-occipital polymicrogyria;Yunis-Varon syndrome;Charcot-Marie-Tooth disease type 4J Supplemental_disease_name DISEASE_NAME:bilateral_parasagittal_parieto_occipital_polymicrogyria_yunis_varon_syndrome_charcot_marie_tooth_disease_type_4j_amyotrophic_lateral_sclerosis_type_11 Bilateral parasagittal parieto-occipital polymicrogyria;Yunis-Varon syndrome;Charcot-Marie-Tooth disease type 4J;Amyotrophic lateral sclerosis type 11 Supplemental_disease_name DISEASE_NAME:bilateral_polymicrogyria Bilateral polymicrogyria Supplemental_disease_name DISEASE_NAME:bilateral_ptosis_respiratory_insufficiency_stridor_delayed_gross_motor_development Bilateral ptosis;Respiratory insufficiency;Stridor;Delayed gross motor development Supplemental_disease_name DISEASE_NAME:bilateral_renal_agenesis Bilateral renal agenesis Supplemental_disease_name DISEASE_NAME:bilateral_sensorineural_hearing_impairment Bilateral sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:bilateral_tonic_clonic_seizure Bilateral tonic-clonic seizure Supplemental_disease_name DISEASE_NAME:bilateral_tonic_clonic_seizure_generalized_non_motor_absence_seizure_seizure Bilateral tonic-clonic seizure;Generalized non-motor (absence) seizure;Seizure Supplemental_disease_name DISEASE_NAME:bilateral_tonic_clonic_seizure_specific_learning_disability Bilateral tonic-clonic seizure;Specific learning disability Supplemental_disease_name DISEASE_NAME:bilateral_vestibular_schwannoma Bilateral vestibular schwannoma Supplemental_disease_name DISEASE_NAME:bile_acid_conjugation_defect_1 Bile acid conjugation defect 1 Supplemental_disease_name DISEASE_NAME:bile_acid_malabsorption_primary_1 Bile acid malabsorption, primary, 1 Supplemental_disease_name DISEASE_NAME:bile_acid_malabsorption_primary_2 Bile acid malabsorption, primary, 2 Supplemental_disease_name DISEASE_NAME:biliary_renal_neurologic_and_skeletal_syndrome Biliary, renal, neurologic, and skeletal syndrome Supplemental_disease_name DISEASE_NAME:biliary_tract_abnormality Biliary tract abnormality Supplemental_disease_name DISEASE_NAME:biliary_tract_tumor Biliary tract tumor Supplemental_disease_name DISEASE_NAME:bilirubin_serum_level_of_quantitative_trait_locus_1 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:bilirubin_serum_level_of_quantitative_trait_locus_1_crigler_najjar_syndrome_type_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_gilbert_syndrome BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Gilbert syndrome Supplemental_disease_name DISEASE_NAME:bilirubin_serum_level_of_quantitative_trait_locus_1_gilbert_syndrome_crigler_najjar_syndrome_type_1_crigler_najjar_syndrome_type_ii_lucey_driscoll_syndrome BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Gilbert syndrome;Crigler-Najjar syndrome type 1;Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome Supplemental_disease_name DISEASE_NAME:bilirubin_serum_level_of_quantitative_trait_locus_1_gilbert_syndrome_crigler_najjar_syndrome_type_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Gilbert syndrome;Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II Supplemental_disease_name DISEASE_NAME:bilirubin_serum_level_of_quantitative_trait_locus_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_crigler_najjar_syndrome_type_1_gilbert_syndrome BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Crigler-Najjar syndrome type 1;Gilbert syndrome Supplemental_disease_name DISEASE_NAME:bin1_related_disorder BIN1-related disorder Supplemental_disease_name DISEASE_NAME:bipolar_affective_disorder_increased_body_weight_attention_deficit_hyperactivity_disorder_insulin_resistance Bipolar affective disorder;Increased body weight;Attention deficit hyperactivity disorder;Insulin resistance Supplemental_disease_name DISEASE_NAME:bipolar_affective_disorder_susceptibility_to Bipolar affective disorder, susceptibility to Supplemental_disease_name DISEASE_NAME:birbeck_granule_deficiency Birbeck granule deficiency Supplemental_disease_name DISEASE_NAME:birc2_related_disorder BIRC2-related disorder Supplemental_disease_name DISEASE_NAME:birc6_related_disorder BIRC6-related disorder Supplemental_disease_name DISEASE_NAME:birk_aharoni_syndrome Birk-Aharoni syndrome Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_1 Birt-Hogg-Dube syndrome 1 Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_17p11_2_microduplication_syndrome_colorectal_cancer_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax Birt-Hogg-Dube syndrome;17p11.2 microduplication syndrome;Colorectal cancer;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_17p11_2_microduplication_syndrome_familial_spontaneous_pneumothorax_colorectal_cancer_nonpapillary_renal_cell_carcinoma Birt-Hogg-Dube syndrome;17p11.2 microduplication syndrome;Familial spontaneous pneumothorax;Colorectal cancer;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_colorectal_cancer Birt-Hogg-Dube syndrome;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Colorectal cancer Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_1_colorectal_cancer_familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma Birt-Hogg-Dube syndrome 1;Colorectal cancer;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_1_colorectal_cancer_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax Birt-Hogg-Dube syndrome 1;Colorectal cancer;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_1_familial_spontaneous_pneumothorax_colorectal_cancer_nonpapillary_renal_cell_carcinoma Birt-Hogg-Dube syndrome 1;Familial spontaneous pneumothorax;Colorectal cancer;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_1_familial_spontaneous_pneumothorax_colorectal_cancer_nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome Birt-Hogg-Dube syndrome 1;Familial spontaneous pneumothorax;Colorectal cancer;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_1_familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_colorectal_cancer Birt-Hogg-Dube syndrome 1;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Colorectal cancer Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_1_nonpapillary_renal_cell_carcinoma_colorectal_cancer Birt-Hogg-Dube syndrome 1;Nonpapillary renal cell carcinoma;Colorectal cancer Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_1_nonpapillary_renal_cell_carcinoma_colorectal_cancer_familial_spontaneous_pneumothorax Birt-Hogg-Dube syndrome 1;Nonpapillary renal cell carcinoma;Colorectal cancer;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_2 Birt-Hogg-Dube syndrome 2 Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_carcinoma_of_colon_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma Birt-Hogg-Dube syndrome;Carcinoma of colon;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_carcinoma_of_colon_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome Birt-Hogg-Dube syndrome;Carcinoma of colon;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_colorectal_cancer_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma Birt-Hogg-Dube syndrome;Colorectal cancer;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_colorectal_cancer_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome Birt-Hogg-Dube syndrome;Colorectal cancer;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_colorectal_cancer_nonpapillary_renal_cell_carcinoma Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Colorectal cancer;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma_colorectal_cancer Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax_colorectal_cancer_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Colorectal cancer;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome_colorectal_cancer Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome;Colorectal cancer Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome_familial_spontaneous_pneumothorax_colorectal_cancer Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome;Familial spontaneous pneumothorax;Colorectal cancer Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma_colorectal_cancer_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_colorectal_cancer Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Colorectal cancer Supplemental_disease_name DISEASE_NAME:biventricular_noncompaction_cardiomyopathy Biventricular noncompaction cardiomyopathy Supplemental_disease_name DISEASE_NAME:bivm_ercc5_related_disorder BIVM-ERCC5-related disorder Supplemental_disease_name DISEASE_NAME:bjoernstad_syndrome Bjoernstad syndrome Supplemental_disease_name DISEASE_NAME:bjornstad_syndrome_with_mild_mitochondrial_complex_iii_deficiency BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY Supplemental_disease_name DISEASE_NAME:bladder_cancer_transitional_cell_somatic Bladder cancer, transitional cell, somatic Supplemental_disease_name DISEASE_NAME:bladder_tumor bladder tumor Supplemental_disease_name DISEASE_NAME:blakemore_durmaz_vasileiou_bdv_syndrome Blakemore-Durmaz-Vasileiou (BDV) syndrome Supplemental_disease_name DISEASE_NAME:blast_crisis_chronic_myeloid_leukemia Blast crisis chronic myeloid leukemia Supplemental_disease_name DISEASE_NAME:blast_phase_chronic_myelogenous_leukemia_bcr_abl1_positive Blast phase chronic myelogenous leukemia, BCR-ABL1 positive Supplemental_disease_name DISEASE_NAME:blastoma Blastoma Supplemental_disease_name DISEASE_NAME:blau_syndrome_inflammatory_bowel_disease_1 Blau syndrome;Inflammatory bowel disease 1 Supplemental_disease_name DISEASE_NAME:blau_syndrome_inflammatory_bowel_disease_1_yao_syndrome Blau syndrome;Inflammatory bowel disease 1;Yao syndrome Supplemental_disease_name DISEASE_NAME:blau_syndrome_regional_enteritis Blau syndrome;Regional enteritis Supplemental_disease_name DISEASE_NAME:blau_syndrome_yao_syndrome_inflammatory_bowel_disease_1 Blau syndrome;Yao syndrome;Inflammatory bowel disease 1 Supplemental_disease_name DISEASE_NAME:bleeding_and_platelet_disorders Bleeding and platelet disorders Supplemental_disease_name DISEASE_NAME:bleeding_disorder Bleeding disorder Supplemental_disease_name DISEASE_NAME:bleeding_disorder_platelet_type_13_susceptibility_to Bleeding disorder, platelet-type, 13, susceptibility to Supplemental_disease_name DISEASE_NAME:bleeding_disorder_platelet_type_21 Bleeding disorder, platelet-type, 21 Supplemental_disease_name DISEASE_NAME:bleeding_disorder_platelet_type_22 Bleeding disorder, platelet-type, 22 Supplemental_disease_name DISEASE_NAME:bleeding_disorder_platelet_type_24 Bleeding disorder, platelet-type, 24 Supplemental_disease_name DISEASE_NAME:bleeding_disorder_platelet_type_24_fetomaternal_alloimmune_thrombocytopenia_1 Bleeding disorder, platelet-type, 24;Fetomaternal alloimmune thrombocytopenia 1 Supplemental_disease_name DISEASE_NAME:bleeding_disorder_platelet_type_24_glanzmann_thrombasthenia_2 Bleeding disorder, platelet-type, 24;Glanzmann thrombasthenia 2 Supplemental_disease_name DISEASE_NAME:bleeding_disorder_platelet_type_24_myocardial_infarction_susceptibility_to_glanzmann_thrombasthenia_2 Bleeding disorder, platelet-type, 24;Myocardial infarction, susceptibility to;Glanzmann thrombasthenia 2 Supplemental_disease_name DISEASE_NAME:bleeding_disorder_platelet_type_25 Bleeding disorder, platelet-type, 25 Supplemental_disease_name DISEASE_NAME:bleeding_disorder_platelet_type_macrothrombocytopenia Bleeding disorder platelet type macrothrombocytopenia Supplemental_disease_name DISEASE_NAME:bleeding_disorder_vascular_type Bleeding disorder, vascular-type Supplemental_disease_name DISEASE_NAME:blepharocheilodontic_syndrome_1_endometrial_carcinoma_hereditary_diffuse_gastric_adenocarcinoma_ovarian_cancer_familial_cancer_of_breast Blepharocheilodontic syndrome 1;Endometrial carcinoma;Hereditary diffuse gastric adenocarcinoma;Ovarian cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:blepharocheilodontic_syndrome_1_familial_cancer_of_breast_endometrial_carcinoma_hereditary_diffuse_gastric_adenocarcinoma_ovarian_cancer Blepharocheilodontic syndrome 1;Familial cancer of breast;Endometrial carcinoma;Hereditary diffuse gastric adenocarcinoma;Ovarian cancer Supplemental_disease_name DISEASE_NAME:blepharocheilodontic_syndrome_1_familial_cancer_of_breast_endometrial_carcinoma_ovarian_cancer_hereditary_diffuse_gastric_adenocarcinoma Blepharocheilodontic syndrome 1;Familial cancer of breast;Endometrial carcinoma;Ovarian cancer;Hereditary diffuse gastric adenocarcinoma Supplemental_disease_name DISEASE_NAME:blepharocheilodontic_syndrome_1_familial_cancer_of_breast_ovarian_cancer_endometrial_carcinoma_hereditary_diffuse_gastric_adenocarcinoma Blepharocheilodontic syndrome 1;Familial cancer of breast;Ovarian cancer;Endometrial carcinoma;Hereditary diffuse gastric adenocarcinoma Supplemental_disease_name DISEASE_NAME:blepharophimosis_impaired_intellectual_development_syndrome_nicolaides_baraitser_syndrome Blepharophimosis-impaired intellectual development syndrome;Nicolaides-Baraitser syndrome Supplemental_disease_name DISEASE_NAME:blepharophimosis_intellectual_disability_syndrome Blepharophimosis - intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:blepharophimosis_intellectual_disability_syndrome_mkb_type Blepharophimosis - intellectual disability syndrome, MKB type Supplemental_disease_name DISEASE_NAME:blepharophimosis_intellectual_disability_syndrome_mkb_type_fg_syndrome_1_x_linked_intellectual_disability_with_marfanoid_habitus Blepharophimosis - intellectual disability syndrome, MKB type;FG syndrome 1;X-linked intellectual disability with marfanoid habitus Supplemental_disease_name DISEASE_NAME:blepharophimosis_intellectual_disability_syndrome_mkb_type_fg_syndrome_1_x_linked_intellectual_disability_with_marfanoid_habitus_cholestasis_pigmentary_retinopathy_cleft_palate_syndrome Blepharophimosis - intellectual disability syndrome, MKB type;FG syndrome 1;X-linked intellectual disability with marfanoid habitus;Cholestasis-pigmentary retinopathy-cleft palate syndrome Supplemental_disease_name DISEASE_NAME:blepharophimosis_intellectual_disability_syndrome_mkb_type_fg_syndrome_x_linked_intellectual_disability_with_marfanoid_habitus Blepharophimosis - intellectual disability syndrome, MKB type;FG syndrome;X-linked intellectual disability with marfanoid habitus Supplemental_disease_name DISEASE_NAME:blepharophimosis_intellectual_disability_syndrome_mkb_type_x_linked_intellectual_disability_with_marfanoid_habitus_fg_syndrome_1 Blepharophimosis - intellectual disability syndrome, MKB type;X-linked intellectual disability with marfanoid habitus;FG syndrome 1 Supplemental_disease_name DISEASE_NAME:blepharophimosis_intellectual_disability_syndrome_sbbys_type_genitopatellar_syndrome Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome Supplemental_disease_name DISEASE_NAME:blepharophimosis_ptosis_and_epicanthus_inversus_syndrome_premature_ovarian_failure_3 Blepharophimosis, ptosis, and epicanthus inversus syndrome;Premature ovarian failure 3 Supplemental_disease_name DISEASE_NAME:blepharophimosis_ptosis_and_epicanthus_inversus_type_i BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I Supplemental_disease_name DISEASE_NAME:blepharophimosis_ptosis_and_epicanthus_inversus_type_ii BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II Supplemental_disease_name DISEASE_NAME:blepharophimosis_ptosis_and_epicanthus_inversus_type_ii_with_duane_retraction_syndrome Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome Supplemental_disease_name DISEASE_NAME:blepharospasm_oromandibular_dystonia_syndrome Blepharospasm-oromandibular dystonia syndrome Supplemental_disease_name DISEASE_NAME:blindness_global_developmental_delay Blindness;Global developmental delay Supplemental_disease_name DISEASE_NAME:blistering_acantholytic_of_oral_and_laryngeal_mucosa Blistering, acantholytic, of oral and laryngeal mucosa Supplemental_disease_name DISEASE_NAME:blk_related_disorder BLK-related disorder Supplemental_disease_name DISEASE_NAME:blm_related_disorder BLM-related disorder Supplemental_disease_name DISEASE_NAME:blnk_related_disorder BLNK-related disorder Supplemental_disease_name DISEASE_NAME:bloc1s3_related_disorder BLOC1S3-related disorder Supplemental_disease_name DISEASE_NAME:bloc1s4_related_condition BLOC1S4-related condition Supplemental_disease_name DISEASE_NAME:bloc1s5_related_disorder BLOC1S5-related disorder Supplemental_disease_name DISEASE_NAME:bloc1s6_related_disorder BLOC1S6-related disorder Supplemental_disease_name DISEASE_NAME:blood_group_antigen_abnormality Blood group antigen abnormality Supplemental_disease_name DISEASE_NAME:blood_group_diego_system BLOOD GROUP--DIEGO SYSTEM Supplemental_disease_name DISEASE_NAME:blood_group_dombrock_system Blood group, Dombrock system Supplemental_disease_name DISEASE_NAME:blood_group_emm_system_intellectual_disability_autosomal_recessive_53 BLOOD GROUP, EMM SYSTEM;Intellectual disability, autosomal recessive 53 Supplemental_disease_name DISEASE_NAME:blood_group_er Blood group, ER Supplemental_disease_name DISEASE_NAME:blood_group_er_dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and_or_perinatal_edema_lymphatic_malformation_6 Blood group, ER;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema;Lymphatic malformation 6 Supplemental_disease_name DISEASE_NAME:blood_group_er_lymphatic_malformation_6_dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and_or_perinatal_edema Blood group, ER;Lymphatic malformation 6;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Supplemental_disease_name DISEASE_NAME:blood_group_erik BLOOD GROUP ERIK Supplemental_disease_name DISEASE_NAME:blood_group_froese BLOOD GROUP--FROESE Supplemental_disease_name DISEASE_NAME:blood_group_gerbich_system Blood group, Gerbich system Supplemental_disease_name DISEASE_NAME:blood_group_i_system Blood group, I system Supplemental_disease_name DISEASE_NAME:blood_group_indian_system Blood group, Indian system Supplemental_disease_name DISEASE_NAME:blood_group_junior_system BLOOD GROUP, JUNIOR SYSTEM Supplemental_disease_name DISEASE_NAME:blood_group_kidd_system BLOOD GROUP, KIDD SYSTEM Supplemental_disease_name DISEASE_NAME:blood_group_lutheran_inhibitor BLOOD GROUP--LUTHERAN INHIBITOR Supplemental_disease_name DISEASE_NAME:blood_group_lutheran_null BLOOD GROUP--LUTHERAN NULL Supplemental_disease_name DISEASE_NAME:blood_group_lutheran_system BLOOD GROUP--LUTHERAN SYSTEM Supplemental_disease_name DISEASE_NAME:blood_group_ok BLOOD GROUP--OK Supplemental_disease_name DISEASE_NAME:blood_group_p1pk_system Blood group, P1PK system Supplemental_disease_name DISEASE_NAME:blood_group_sid_system BLOOD GROUP, SID SYSTEM Supplemental_disease_name DISEASE_NAME:blood_group_ss BLOOD GROUP, Ss Supplemental_disease_name DISEASE_NAME:blood_group_waldner_type BLOOD GROUP--WALDNER TYPE Supplemental_disease_name DISEASE_NAME:blood_group_wright_antigen BLOOD GROUP--WRIGHT ANTIGEN Supplemental_disease_name DISEASE_NAME:bltp1_related_disorder BLTP1-related disorder Supplemental_disease_name DISEASE_NAME:blue_rubber_bleb_nevus Blue rubber bleb nevus Supplemental_disease_name DISEASE_NAME:blue_rubber_bleb_nevus_ventricular_septal_defect Blue rubber bleb nevus;Ventricular septal defect Supplemental_disease_name DISEASE_NAME:blurred_vision_night_blindness_peripheral_visual_field_loss Blurred vision;Night blindness;Peripheral visual field loss Supplemental_disease_name DISEASE_NAME:blurred_vision_pigmentary_retinopathy_macular_degeneration_abnormal_retinal_pigmentation Blurred vision;Pigmentary retinopathy;Macular degeneration;Abnormal retinal pigmentation Supplemental_disease_name DISEASE_NAME:blvra_related_disorder BLVRA-related disorder Supplemental_disease_name DISEASE_NAME:bmal1_related_disorder BMAL1-related disorder Supplemental_disease_name DISEASE_NAME:bmp15_related_disorder BMP15-related disorder Supplemental_disease_name DISEASE_NAME:bmp1_related_disorder BMP1-related disorder Supplemental_disease_name DISEASE_NAME:bmp2_related_disorder BMP2-related disorder Supplemental_disease_name DISEASE_NAME:bmp4_related_disorder BMP4-related disorder Supplemental_disease_name DISEASE_NAME:bmp4_related_syndromic_microphthalmia BMP4-Related Syndromic Microphthalmia Supplemental_disease_name DISEASE_NAME:bmp5_related_disorder BMP5-related disorder Supplemental_disease_name DISEASE_NAME:bmp6_related_disorder BMP6-related disorder Supplemental_disease_name DISEASE_NAME:bmp7_related_disorder BMP7-related disorder Supplemental_disease_name DISEASE_NAME:bmper_related_disorder BMPER-related disorder Supplemental_disease_name DISEASE_NAME:bmpr1a_related_disorder BMPR1A-related disorder Supplemental_disease_name DISEASE_NAME:bmpr1a_related_juvenile_polyposis_syndrome BMPR1A-related juvenile polyposis syndrome Supplemental_disease_name DISEASE_NAME:bmpr1a_related_polyposis_syndrome BMPR1A-Related Polyposis Syndrome Supplemental_disease_name DISEASE_NAME:bmpr1b_related_disorder BMPR1B-related disorder Supplemental_disease_name DISEASE_NAME:bmpr2_related_disorder BMPR2-related disorder Supplemental_disease_name DISEASE_NAME:bms1_related_disorder BMS1-related disorder Supplemental_disease_name DISEASE_NAME:bnar_syndrome BNAR syndrome Supplemental_disease_name DISEASE_NAME:bnar_syndrome_oculotrichoanal_syndrome BNAR syndrome;Oculotrichoanal syndrome Supplemental_disease_name DISEASE_NAME:bnar_syndrome_oculotrichoanal_syndrome_trigonocephaly_2 BNAR syndrome;Oculotrichoanal syndrome;Trigonocephaly 2 Supplemental_disease_name DISEASE_NAME:bnar_syndrome_trigonocephaly_2_oculotrichoanal_syndrome BNAR syndrome;Trigonocephaly 2;Oculotrichoanal syndrome Supplemental_disease_name DISEASE_NAME:bnc2_related_disorder BNC2-related disorder Supplemental_disease_name DISEASE_NAME:boceprevir_peginterferon_alfa_2a_peginterferon_alfa_2b_and_ribavirin_response_efficacy boceprevir, peginterferon alfa-2a, peginterferon alfa-2b and ribavirin response - Efficacy Supplemental_disease_name DISEASE_NAME:bockenheimer_syndrome Bockenheimer syndrome Supplemental_disease_name DISEASE_NAME:bod1_related_disorder BOD1-related disorder Supplemental_disease_name DISEASE_NAME:bod1_related_intellectual_disability BOD1-related Intellectual Disability Supplemental_disease_name DISEASE_NAME:body_mass_index_quantitative_trait_locus_10 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 Supplemental_disease_name DISEASE_NAME:body_mass_index_quantitative_trait_locus_12 Body mass index quantitative trait locus 12 Supplemental_disease_name DISEASE_NAME:body_mass_index_quantitative_trait_locus_12_obesity_due_to_prohormone_convertase_i_deficiency Body mass index quantitative trait locus 12;Obesity due to prohormone convertase I deficiency Supplemental_disease_name DISEASE_NAME:body_mass_index_quantitative_trait_locus_14 Body mass index quantitative trait locus 14 Supplemental_disease_name DISEASE_NAME:body_mass_index_quantitative_trait_locus_18 Body mass index quantitative trait locus 18 Supplemental_disease_name DISEASE_NAME:body_mass_index_quantitative_trait_locus_19 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 Supplemental_disease_name DISEASE_NAME:body_mass_index_quantitative_trait_locus_20 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 Supplemental_disease_name DISEASE_NAME:body_mass_index_quantitative_trait_locus_4 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 Supplemental_disease_name DISEASE_NAME:body_skin_hyperlaxity_due_to_vitamin_k_dependent_coagulation_factor_deficiency Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Supplemental_disease_name DISEASE_NAME:body_skin_hyperlaxity_due_to_vitamin_k_dependent_coagulation_factor_deficiency_vitamin_k_dependent_clotting_factors_combined_deficiency_of_type_1 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, type 1 Supplemental_disease_name DISEASE_NAME:boerjeson_forssman_lehmann_syndrome Boerjeson-Forssman-Lehmann syndrome Supplemental_disease_name DISEASE_NAME:bohring_opitz_syndrome Bohring-Opitz syndrome Supplemental_disease_name DISEASE_NAME:bohring_opitz_syndrome_myelodysplastic_syndrome Bohring-Opitz syndrome;Myelodysplastic syndrome Supplemental_disease_name DISEASE_NAME:bola3_related_disorder BOLA3-related disorder Supplemental_disease_name DISEASE_NAME:bombay_phenotype Bombay phenotype Supplemental_disease_name DISEASE_NAME:bombay_phenotype_digenic BOMBAY PHENOTYPE, DIGENIC Supplemental_disease_name DISEASE_NAME:bone_fragility_with_contractures_arterial_rupture_and_deafness Bone fragility with contractures, arterial rupture, and deafness Supplemental_disease_name DISEASE_NAME:bone_marrow_failure_and_diabetes_mellitus_syndrome Bone marrow failure and diabetes mellitus syndrome Supplemental_disease_name DISEASE_NAME:bone_marrow_failure_syndrome Bone marrow failure syndrome Supplemental_disease_name DISEASE_NAME:bone_marrow_failure_syndrome_3 Bone marrow failure syndrome 3 Supplemental_disease_name DISEASE_NAME:bone_marrow_failure_syndrome_3_shwachman_diamond_syndrome_1 Bone marrow failure syndrome 3;Shwachman-Diamond syndrome 1 Supplemental_disease_name DISEASE_NAME:bone_marrow_failure_syndrome_4 Bone marrow failure syndrome 4 Supplemental_disease_name DISEASE_NAME:bone_marrow_failure_syndrome_5 Bone marrow failure syndrome 5 Supplemental_disease_name DISEASE_NAME:bone_marrow_failure_syndrome_6 Bone marrow failure syndrome 6 Supplemental_disease_name DISEASE_NAME:bone_marrow_hypocellularity Bone marrow hypocellularity Supplemental_disease_name DISEASE_NAME:bone_mineral_density_quantitative_trait_locus_1 Bone mineral density quantitative trait locus 1 Supplemental_disease_name DISEASE_NAME:bone_mineral_density_quantitative_trait_locus_12 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12 Supplemental_disease_name DISEASE_NAME:bone_mineral_density_quantitative_trait_locus_17 Bone mineral density quantitative trait locus 17 Supplemental_disease_name DISEASE_NAME:bone_mineral_density_quantitative_trait_locus_18 Bone mineral density quantitative trait locus 18 Supplemental_disease_name DISEASE_NAME:bone_mineral_density_variation_quantitative_trait_locus Bone mineral density variation quantitative trait locus Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_chek2_related_cancer_predisposition_familial_prostate_cancer Bone osteosarcoma;CHEK2-related cancer predisposition;Familial prostate cancer Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_colorectal_cancer_chek2_related_cancer_predisposition_familial_cancer_of_breast_prostate_cancer Bone osteosarcoma;Colorectal cancer;CHEK2-related cancer predisposition;Familial cancer of breast;Prostate cancer Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_colorectal_cancer_familial_cancer_of_breast_chek2_related_cancer_predisposition_prostate_cancer Bone osteosarcoma;Colorectal cancer;Familial cancer of breast;CHEK2-related cancer predisposition;Prostate cancer Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_familial_cancer_of_breast_chek2_related_cancer_predisposition_prostate_cancer Bone osteosarcoma;Familial cancer of breast;CHEK2-related cancer predisposition;Prostate cancer Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_familial_cancer_of_breast_chek2_related_cancer_predisposition_prostate_cancer_colorectal_cancer Bone osteosarcoma;Familial cancer of breast;CHEK2-related cancer predisposition;Prostate cancer;Colorectal cancer Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_familial_cancer_of_breast_familial_prostate_cancer_chek2_related_cancer_predisposition Bone osteosarcoma;Familial cancer of breast;Familial prostate cancer;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_familial_prostate_cancer_chek2_related_cancer_predisposition Bone osteosarcoma;Familial prostate cancer;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_malignant_tumor_of_urinary_bladder_retinoblastoma_small_cell_lung_carcinoma Bone osteosarcoma;Malignant tumor of urinary bladder;Retinoblastoma;Small cell lung carcinoma Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_prostate_cancer_familial_cancer_of_breast_chek2_related_cancer_predisposition Bone osteosarcoma;Prostate cancer;Familial cancer of breast;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_small_cell_lung_carcinoma_malignant_tumor_of_urinary_bladder_retinoblastoma Bone osteosarcoma;Small cell lung carcinoma;Malignant tumor of urinary bladder;Retinoblastoma Supplemental_disease_name DISEASE_NAME:bone_osteosarcoma_small_cell_lung_carcinoma_retinoblastoma_malignant_tumor_of_urinary_bladder Bone osteosarcoma;Small cell lung carcinoma;Retinoblastoma;Malignant tumor of urinary bladder Supplemental_disease_name DISEASE_NAME:bone_paget_disease Bone Paget disease Supplemental_disease_name DISEASE_NAME:boomerang_dysplasia_atelosteogenesis_type_iii_atelosteogenesis_type_i_spondylocarpotarsal_synostosis_syndrome_larsen_syndrome Boomerang dysplasia;Atelosteogenesis type III;Atelosteogenesis type I;Spondylocarpotarsal synostosis syndrome;Larsen syndrome Supplemental_disease_name DISEASE_NAME:boomerang_dysplasia_spondylocarpotarsal_synostosis_syndrome_atelosteogenesis_type_iii_larsen_syndrome_atelosteogenesis_type_i Boomerang dysplasia;Spondylocarpotarsal synostosis syndrome;Atelosteogenesis type III;Larsen syndrome;Atelosteogenesis type I Supplemental_disease_name DISEASE_NAME:borcs5_related_disorder BORCS5-related disorder Supplemental_disease_name DISEASE_NAME:borderline_ovarian_mucinous_tumor Borderline Ovarian Mucinous Tumor Supplemental_disease_name DISEASE_NAME:bosch_boonstra_schaaf_optic_atrophy_syndrome_chromosome_5q14_3_deletion_syndrome_distal Bosch-Boonstra-Schaaf optic atrophy syndrome;Chromosome 5Q14.3 deletion syndrome, distal Supplemental_disease_name DISEASE_NAME:bosley_salih_alorainy_syndrome Bosley-Salih-Alorainy syndrome Supplemental_disease_name DISEASE_NAME:bosma_arhinia_microphthalmia_syndrome Bosma arhinia microphthalmia syndrome Supplemental_disease_name DISEASE_NAME:bothnia_retinal_dystrophy_newfoundland_cone_rod_dystrophy_pigmentary_retinal_dystrophy Bothnia retinal dystrophy;Newfoundland cone-rod dystrophy;Pigmentary retinal dystrophy Supplemental_disease_name DISEASE_NAME:bothnia_retinal_dystrophy_pigmentary_retinal_dystrophy_newfoundland_cone_rod_dystrophy Bothnia retinal dystrophy;Pigmentary retinal dystrophy;Newfoundland cone-rod dystrophy Supplemental_disease_name DISEASE_NAME:boudin_mortier_syndrome Boudin-Mortier syndrome Supplemental_disease_name DISEASE_NAME:bpifa3_related_disorder BPIFA3-related disorder Supplemental_disease_name DISEASE_NAME:bpnt2_related_disorder BPNT2-related disorder Supplemental_disease_name DISEASE_NAME:bptf_related_disorder BPTF-related disorder Supplemental_disease_name DISEASE_NAME:bptf_related_neurodevelopmental_disorder BPTF-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:brachycephaly_attention_deficit_hyperactivity_disorder_microcephaly Brachycephaly;Attention deficit hyperactivity disorder;Microcephaly Supplemental_disease_name DISEASE_NAME:brachycephaly_microcephaly_ptosis_global_developmental_delay_pectus_excavatum Brachycephaly;Microcephaly;Ptosis;Global developmental delay;Pectus excavatum Supplemental_disease_name DISEASE_NAME:brachydactyly_arterial_hypertension_syndrome Brachydactyly-arterial hypertension syndrome Supplemental_disease_name DISEASE_NAME:brachydactyly_elbow_wrist_dysplasia_syndrome Brachydactyly-elbow wrist dysplasia syndrome Supplemental_disease_name DISEASE_NAME:brachydactyly_elbow_wrist_dysplasia_syndrome_clubfoot Brachydactyly-elbow wrist dysplasia syndrome;Clubfoot Supplemental_disease_name DISEASE_NAME:brachydactyly_retinal_degeneration_polydactyly_postaxial_type_a1_syndactyly Brachydactyly;Retinal degeneration;Polydactyly, postaxial, type A1;Syndactyly Supplemental_disease_name DISEASE_NAME:brachydactyly_syndactyly_oligodactyly_syndrome Brachydactyly-syndactyly-oligodactyly syndrome Supplemental_disease_name DISEASE_NAME:brachydactyly_syndactyly_retinal_degeneration_polydactyly_postaxial_type_a1 Brachydactyly;Syndactyly;Retinal degeneration;Polydactyly, postaxial, type A1 Supplemental_disease_name DISEASE_NAME:brachydactyly_syndactyly_syndrome_syndactyly_type_5_synpolydactyly_type_1_brachydactyly_type_e1_brachydactyly_type_d Brachydactyly-syndactyly syndrome;Syndactyly type 5;Synpolydactyly type 1;Brachydactyly type E1;Brachydactyly type D Supplemental_disease_name DISEASE_NAME:brachydactyly_syndrome_type_e Brachydactyly syndrome type E Supplemental_disease_name DISEASE_NAME:brachydactyly_type_a1a Brachydactyly type A1A Supplemental_disease_name DISEASE_NAME:brachydactyly_type_a1a_acrocapitofemoral_dysplasia Brachydactyly type A1A;Acrocapitofemoral dysplasia Supplemental_disease_name DISEASE_NAME:brachydactyly_type_b1_autosomal_recessive_robinow_syndrome Brachydactyly type B1;Autosomal recessive Robinow syndrome Supplemental_disease_name DISEASE_NAME:brachydactyly_type_b1robinow_syndrome_autosomal_recessive Brachydactyly, type B1Robinow syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:brachydactyly_type_b2_tarsal_carpal_coalition_syndrome_symphalangism_brachydactyly_syndrome_stapes_ankylosis_with_broad_thumbs_and_toes_proximal_symphalangism_1a Brachydactyly type B2;Tarsal-carpal coalition syndrome;Symphalangism-brachydactyly syndrome;Stapes ankylosis with broad thumbs and toes;Proximal symphalangism 1A Supplemental_disease_name DISEASE_NAME:brachydactyly_type_c_type_a2_brachydactyly_brachydactyly_type_a1c Brachydactyly type C;Type A2 brachydactyly;Brachydactyly type A1C Supplemental_disease_name DISEASE_NAME:brachydactyly_type_d_brachydactyly_type_e1 Brachydactyly type D;Brachydactyly type E1 Supplemental_disease_name DISEASE_NAME:brachydactyly_type_d_syndactyly_type_5_brachydactyly_syndactyly_syndrome_synpolydactyly_type_1_brachydactyly_type_e1 Brachydactyly type D;Syndactyly type 5;Brachydactyly-syndactyly syndrome;Synpolydactyly type 1;Brachydactyly type E1 Supplemental_disease_name DISEASE_NAME:brachydactyly_type_d_syndactyly_type_5_brachydactyly_type_e1_brachydactyly_syndactyly_syndrome_synpolydactyly_type_1 Brachydactyly type D;Syndactyly type 5;Brachydactyly type E1;Brachydactyly-syndactyly syndrome;Synpolydactyly type 1 Supplemental_disease_name DISEASE_NAME:brachydactyly_type_d_synpolydactyly_type_1_syndactyly_type_5_brachydactyly_syndactyly_syndrome_brachydactyly_type_e1 Brachydactyly type D;Synpolydactyly type 1;Syndactyly type 5;Brachydactyly-syndactyly syndrome;Brachydactyly type E1 Supplemental_disease_name DISEASE_NAME:brachydactyly_type_e Brachydactyly type E Supplemental_disease_name DISEASE_NAME:brachydactyly_type_e1_brachydactyly_type_d_brachydactyly_syndactyly_syndrome_syndactyly_type_5_synpolydactyly_type_1 Brachydactyly type E1;Brachydactyly type D;Brachydactyly-syndactyly syndrome;Syndactyly type 5;Synpolydactyly type 1 Supplemental_disease_name DISEASE_NAME:brachydactyly_type_e1_synpolydactyly_type_1_brachydactyly_syndactyly_syndrome_syndactyly_type_5_brachydactyly_type_d Brachydactyly type E1;Synpolydactyly type 1;Brachydactyly-syndactyly syndrome;Syndactyly type 5;Brachydactyly type D Supplemental_disease_name DISEASE_NAME:brachymorphism_onychodysplasia_dysphalangism_syndrome Brachymorphism-onychodysplasia-dysphalangism syndrome Supplemental_disease_name DISEASE_NAME:brachyolmia_amelogenesis_imperfecta_syndrome_geleophysic_dysplasia_3 Brachyolmia-amelogenesis imperfecta syndrome;Geleophysic dysplasia 3 Supplemental_disease_name DISEASE_NAME:brachyolmia_type_4_with_mild_epiphyseal_and_metaphyseal_changes Brachyolmia type 4 with mild epiphyseal and metaphyseal changes Supplemental_disease_name DISEASE_NAME:brachyphalangy_polydactyly_and_tibial_aplasia_hypoplasia Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia Supplemental_disease_name DISEASE_NAME:brachyrachia_short_spine_dysplasia Brachyrachia (short spine dysplasia) Supplemental_disease_name DISEASE_NAME:braddock_carey_syndrome_1 Braddock-Carey syndrome 1 Supplemental_disease_name DISEASE_NAME:braddock_carey_syndrome_2 Braddock-carey syndrome 2 Supplemental_disease_name DISEASE_NAME:bradycardia Bradycardia Supplemental_disease_name DISEASE_NAME:bradycardia_progressive_familial_heart_block Bradycardia;Progressive familial heart block Supplemental_disease_name DISEASE_NAME:braf_related_disorder BRAF-related disorder Supplemental_disease_name DISEASE_NAME:braf_related_spectrum_disorder BRAF-related spectrum disorder Supplemental_disease_name DISEASE_NAME:brain_abnormalities_neurodegeneration_and_dysosteosclerosis Brain abnormalities, neurodegeneration, and dysosteosclerosis Supplemental_disease_name DISEASE_NAME:brain_abnormalities_neurodegeneration_and_dysosteosclerosis_leukoencephalopathy_diffuse_hereditary_with_spheroids_1 Brain abnormalities, neurodegeneration, and dysosteosclerosis;Leukoencephalopathy, diffuse hereditary, with spheroids 1 Supplemental_disease_name DISEASE_NAME:brain_atrophy_global_developmental_delay Brain atrophy;Global developmental delay Supplemental_disease_name DISEASE_NAME:brain_atrophy_global_developmental_delay_hypotonia_hypoplasia_of_the_corpus_callosum_seizure Brain atrophy;Global developmental delay;Hypotonia;Hypoplasia of the corpus callosum;Seizure Supplemental_disease_name DISEASE_NAME:brain_atrophy_hypoplasia_of_the_corpus_callosum_global_developmental_delay_attention_deficit_hyperactivity_disorder_seizure Brain atrophy;Hypoplasia of the corpus callosum;Global developmental delay;Attention deficit hyperactivity disorder;Seizure Supplemental_disease_name DISEASE_NAME:brain_atrophy_seizure_global_developmental_delay_microcephaly Brain atrophy;Seizure;Global developmental delay;Microcephaly Supplemental_disease_name DISEASE_NAME:brain_disorder Brain disorder Supplemental_disease_name DISEASE_NAME:brain_imaging_abnormality_intellectual_disability_delayed_speech_and_language_development_short_stature_global_developmental_delay Brain imaging abnormality;Intellectual disability;Delayed speech and language development;Short stature;Global developmental delay Supplemental_disease_name DISEASE_NAME:brain_lower_grade_glioma Brain lower grade glioma Supplemental_disease_name DISEASE_NAME:brain_lung_thyroid_syndrome Brain-lung-thyroid syndrome Supplemental_disease_name DISEASE_NAME:brain_lung_thyroid_syndrome_benign_hereditary_chorea Brain-lung-thyroid syndrome;Benign hereditary chorea Supplemental_disease_name DISEASE_NAME:brain_malformation_renal_syndrome Brain malformation renal syndrome Supplemental_disease_name DISEASE_NAME:brain_pseudoatrophy_reversible_valproate_induced_susceptibility_to Brain pseudoatrophy, reversible, valproate-induced, susceptibility to Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome Brain small vessel disease 1 with or without ocular anomalies;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_hemorrhage_intracerebral_susceptibility_to_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity Brain small vessel disease 1 with or without ocular anomalies;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_hemorrhage_intracerebral_susceptibility_to_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_hemorrhage_intracerebral_susceptibility_to_retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to;Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_retinal_arterial_tortuosity Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to_retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to;Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_hemorrhage_intracerebral_susceptibility_to Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_hemorrhage_intracerebral_susceptibility_to_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant Brain small vessel disease 1 with or without ocular anomalies;Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to Brain small vessel disease 1 with or without ocular anomalies;Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_1_with_or_without_ocular_anomalies_retinal_arterial_tortuosity_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_hemorrhage_intracerebral_susceptibility_to Brain small vessel disease 1 with or without ocular anomalies;Retinal arterial tortuosity;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_2a_autosomal_dominant Brain small vessel disease 2A, autosomal dominant Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_2a_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to Brain small vessel disease 2A, autosomal dominant;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:brain_small_vessel_disease_2b_autosomal_recessive Brain small vessel disease 2B, autosomal recessive Supplemental_disease_name DISEASE_NAME:brain_structure_abnormalities_developmental_delay_dysmorphic_features_motor_delay brain structure abnormalities;Developmental delay;Dysmorphic features;Motor delay Supplemental_disease_name DISEASE_NAME:brain_tumor brain tumor Supplemental_disease_name DISEASE_NAME:brain_tumor_polyposis_syndrome_2 BRAIN TUMOR-POLYPOSIS SYNDROME 2 Supplemental_disease_name DISEASE_NAME:brainstem_dysplasia_abnormal_facial_shape_abnormal_cardiovascular_system_morphology_global_developmental_delay Brainstem dysplasia;Abnormal facial shape;Abnormal cardiovascular system morphology;Global developmental delay Supplemental_disease_name DISEASE_NAME:branchial_cleft_anomaly Branchial cleft anomaly Supplemental_disease_name DISEASE_NAME:branchiootic_syndrome_1_branchiootorenal_syndrome_1_otofaciocervical_syndrome_1 Branchiootic syndrome 1;Branchiootorenal syndrome 1;Otofaciocervical syndrome 1 Supplemental_disease_name DISEASE_NAME:branchiootic_syndrome_1_otofaciocervical_syndrome_1_branchiootorenal_syndrome_1 Branchiootic syndrome 1;Otofaciocervical syndrome 1;Branchiootorenal syndrome 1 Supplemental_disease_name DISEASE_NAME:branchiootic_syndrome_2 Branchiootic syndrome 2 Supplemental_disease_name DISEASE_NAME:branchiootic_syndrome_3_autosomal_dominant_nonsyndromic_hearing_loss_23 Branchiootic syndrome 3;Autosomal dominant nonsyndromic hearing loss 23 Supplemental_disease_name DISEASE_NAME:branchiootic_syndrome_3_autosomal_dominant_nonsyndromic_hearing_loss_23_branchiootorenal_syndrome_1 Branchiootic syndrome 3;Autosomal dominant nonsyndromic hearing loss 23;Branchiootorenal syndrome 1 Supplemental_disease_name DISEASE_NAME:branchiootic_syndrome_3_branchiootorenal_syndrome_1_autosomal_dominant_nonsyndromic_hearing_loss_23 Branchiootic syndrome 3;Branchiootorenal syndrome 1;Autosomal dominant nonsyndromic hearing loss 23 Supplemental_disease_name DISEASE_NAME:branchiootorenal_syndrome_1_autosomal_dominant_nonsyndromic_hearing_loss_23_branchiootic_syndrome_3 Branchiootorenal syndrome 1;Autosomal dominant nonsyndromic hearing loss 23;Branchiootic syndrome 3 Supplemental_disease_name DISEASE_NAME:branchiootorenal_syndrome_1_branchiootic_syndrome_1 Branchiootorenal syndrome 1;Branchiootic syndrome 1 Supplemental_disease_name DISEASE_NAME:branchiootorenal_syndrome_1_branchiootic_syndrome_1_otofaciocervical_syndrome_1 Branchiootorenal syndrome 1;Branchiootic syndrome 1;Otofaciocervical syndrome 1 Supplemental_disease_name DISEASE_NAME:branchiootorenal_syndrome_1_branchiootic_syndrome_3_autosomal_dominant_nonsyndromic_hearing_loss_23 Branchiootorenal syndrome 1;Branchiootic syndrome 3;Autosomal dominant nonsyndromic hearing loss 23 Supplemental_disease_name DISEASE_NAME:branchiootorenal_syndrome_1_otofaciocervical_syndrome_1_branchiootic_syndrome_1 Branchiootorenal syndrome 1;Otofaciocervical syndrome 1;Branchiootic syndrome 1 Supplemental_disease_name DISEASE_NAME:branchiootorenal_syndrome_with_cataract Branchiootorenal syndrome with cataract Supplemental_disease_name DISEASE_NAME:brat1_associated_neurodegenerative_disorder BRAT1-associated neurodegenerative disorder Supplemental_disease_name DISEASE_NAME:brat1_related_disorder BRAT1-related disorder Supplemental_disease_name DISEASE_NAME:brat1_related_neurodevelopmental_disorder BRAT1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:brat1_related_neurodevelopmental_disorders BRAT1-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:brca1_related_cancer_predisposition BRCA1-related cancer predisposition Supplemental_disease_name DISEASE_NAME:brca1_related_disorder BRCA1-related disorder Supplemental_disease_name DISEASE_NAME:brca2_related_cancer_predisposition BRCA2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:brca2_related_disorder BRCA2-related disorder Supplemental_disease_name DISEASE_NAME:brca2_related_disorder_hereditary_breast_ovarian_cancer_syndrome BRCA2-related disorder;Hereditary breast ovarian cancer syndrome Supplemental_disease_name DISEASE_NAME:brd2_related_disorder BRD2-related disorder Supplemental_disease_name DISEASE_NAME:brd4_related_disorder BRD4-related disorder Supplemental_disease_name DISEASE_NAME:brdt_related_disorder BRDT-related disorder Supplemental_disease_name DISEASE_NAME:breast_and_colorectal_cancer Breast and colorectal cancer Supplemental_disease_name DISEASE_NAME:breast_and_colorectal_cancer_susceptibility_to Breast and colorectal cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:breast_and_or_ovarian_cancer Breast and/or ovarian cancer Supplemental_disease_name DISEASE_NAME:breast_cancer_early_onset Breast cancer, early-onset Supplemental_disease_name DISEASE_NAME:breast_cancer_familial_male Breast cancer, familial male Supplemental_disease_name DISEASE_NAME:breast_cancer_invasive_susceptibility_to Breast cancer, invasive, susceptibility to Supplemental_disease_name DISEASE_NAME:breast_cancer_protection_against BREAST CANCER, PROTECTION AGAINST Supplemental_disease_name DISEASE_NAME:breast_cancer_susceptibility_to Breast cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:breast_cancer_susceptibility_to_ataxia_telangiectasia_syndrome Breast cancer, susceptibility to;Ataxia-telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:breast_cancer_susceptibility_to_in_brca1_and_brca2_carriers Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers Supplemental_disease_name DISEASE_NAME:breast_cancer_susceptibility_to_nijmegen_breakage_syndrome_like_disorder Breast cancer, susceptibility to;Nijmegen breakage syndrome-like disorder Supplemental_disease_name DISEASE_NAME:breast_cancer_susceptibility_to_pancreatic_cancer_susceptibility_to_3 Breast cancer, susceptibility to;Pancreatic cancer, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:breast_cancer_susceptibility_to_prostate_cancer_susceptibility Breast cancer, susceptibility to;Prostate cancer susceptibility Supplemental_disease_name DISEASE_NAME:breast_cancer_tumor_carcinoma Breast cancer/tumor/carcinoma Supplemental_disease_name DISEASE_NAME:breast_carcinoma_family_history_of_cancer Breast carcinoma;Family history of cancer Supplemental_disease_name DISEASE_NAME:breast_carcinoma_ovarian_neoplasm Breast carcinoma;Ovarian neoplasm Supplemental_disease_name DISEASE_NAME:breast_ductal_adenocarcinoma Breast ductal adenocarcinoma Supplemental_disease_name DISEASE_NAME:breast_infiltrating_ductal_carcinoma Breast infiltrating ductal carcinoma Supplemental_disease_name DISEASE_NAME:breast_invasive_carcinoma Breast invasive carcinoma Supplemental_disease_name DISEASE_NAME:breast_invasive_ductal_carcinoma Breast invasive ductal carcinoma Supplemental_disease_name DISEASE_NAME:breast_neoplasm Breast neoplasm Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer Breast-ovarian cancer Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1 Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1_familial_cancer_of_breast_fanconi_anemia_complementation_group_s Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast;Fanconi anemia, complementation group S Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1_familial_cancer_of_breast_fanconi_anemia_complementation_group_s_pancreatic_cancer_susceptibility_to_4 Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast;Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1_fanconi_anemia_complementation_group_s_familial_cancer_of_breast Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1_fanconi_anemia_complementation_group_s_pancreatic_cancer_susceptibility_to_4 Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1_fanconi_anemia_complementation_group_s_pancreatic_cancer_susceptibility_to_4_familial_cancer_of_breast Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1_hereditary_breast_ovarian_cancer_syndrome Breast-ovarian cancer, familial, susceptibility to, 1;Hereditary breast ovarian cancer syndrome Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1_pancreatic_cancer_susceptibility_to_4 Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1_pancreatic_cancer_susceptibility_to_4_familial_cancer_of_breast_fanconi_anemia_complementation_group_s Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Fanconi anemia, complementation group S Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_1_pancreatic_cancer_susceptibility_to_4_fanconi_anemia_complementation_group_s Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_2 Breast-ovarian cancer, familial, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_2_familial_cancer_of_breast Breast-ovarian cancer, familial, susceptibility to, 2;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_2_familial_cancer_of_breast_prostate_cancer Breast-ovarian cancer, familial, susceptibility to, 2;Familial cancer of breast;Prostate cancer Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_2_familial_cancer_of_breast_prostate_cancer_fanconi_anemia_complementation_group_d1 Breast-ovarian cancer, familial, susceptibility to, 2;Familial cancer of breast;Prostate cancer;Fanconi anemia complementation group D1 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_2_fanconi_anemia_complementation_group_d1 Breast-ovarian cancer, familial, susceptibility to, 2;Fanconi anemia complementation group D1 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_2_hereditary_breast_ovarian_cancer_syndrome Breast-ovarian cancer, familial, susceptibility to, 2;Hereditary breast ovarian cancer syndrome Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_2_hereditary_cancer_predisposing_syndrome Breast-ovarian cancer, familial, susceptibility to, 2;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_3 Breast-ovarian cancer, familial, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_3_fanconi_anemia_complementation_group_o Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_4 Breast-ovarian cancer, familial, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_5 Breast-ovarian cancer, familial, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_5_fanconi_anemia_complementation_group_n_pancreatic_cancer_susceptibility_to_3 Breast-ovarian cancer, familial, susceptibility to, 5;Fanconi anemia complementation group N;Pancreatic cancer, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_5_hereditary_cancer_predisposing_syndrome_pancreatic_cancer_susceptibility_to_3_fanconi_anemia_complementation_group_n Breast-ovarian cancer, familial, susceptibility to, 5;Hereditary cancer-predisposing syndrome;Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_5_pancreatic_cancer_susceptibility_to_3_fanconi_anemia_complementation_group_n Breast-ovarian cancer, familial, susceptibility to, 5;Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N Supplemental_disease_name DISEASE_NAME:breast_ovarian_cancer_familial_susceptibility_to_5_pancreatic_cancer_susceptibility_to_3_hereditary_cancer_predisposing_syndrome_fanconi_anemia_complementation_group_n Breast-ovarian cancer, familial, susceptibility to, 5;Pancreatic cancer, susceptibility to, 3;Hereditary cancer-predisposing syndrome;Fanconi anemia complementation group N Supplemental_disease_name DISEASE_NAME:breast_phyllodes_tumor Breast phyllodes tumor Supplemental_disease_name DISEASE_NAME:breast_pleomorphic_lobular_carcinoma Breast pleomorphic lobular carcinoma Supplemental_disease_name DISEASE_NAME:breasts_and_or_nipples_aplasia_or_hypoplasia_of_2 Breasts and/or nipples, aplasia or hypoplasia of, 2 Supplemental_disease_name DISEASE_NAME:brf1_related_disorder BRF1-related disorder Supplemental_disease_name DISEASE_NAME:brf2_related_disorder BRF2-related disorder Supplemental_disease_name DISEASE_NAME:brip1_associated_familial_cancer_predisposition BRIP1-associated familial cancer predisposition Supplemental_disease_name DISEASE_NAME:brip1_related_disorder BRIP1-related disorder Supplemental_disease_name DISEASE_NAME:british_hpfh British HPFH Supplemental_disease_name DISEASE_NAME:brittle_cornea_syndrome Brittle cornea syndrome Supplemental_disease_name DISEASE_NAME:bronchiectasis_and_nasal_polyposis Bronchiectasis and nasal polyposis Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1 Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_cystic_fibrosis_hereditary_pancreatitis Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_hereditary_pancreatitis_cystic_fibrosis Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_hereditary_pancreatitis Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_cystic_fibrosis_hereditary_pancreatitis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_hereditary_pancreatitis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_cystic_fibrosis Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_hereditary_pancreatitis_cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_liddle_syndrome_1_pseudohypoaldosteronism_type_ib1_autosomal_recessive Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome 1;Pseudohypoaldosteronism, type IB1, autosomal recessive Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_liddle_syndrome_1_pseudohypoaldosteronism_type_ib2_autosomal_recessive Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome 1;Pseudohypoaldosteronism, type IB2, autosomal recessive Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_modifier_of Bronchiectasis with or without elevated sweat chloride 1, modifier of Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_pseudohypoaldosteronism_type_ib1_autosomal_recessive_liddle_syndrome_1 Bronchiectasis with or without elevated sweat chloride 1;Pseudohypoaldosteronism, type IB1, autosomal recessive;Liddle syndrome 1 Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_1_pseudohypoaldosteronism_type_ib2_autosomal_recessive_liddle_syndrome_1 Bronchiectasis with or without elevated sweat chloride 1;Pseudohypoaldosteronism, type IB2, autosomal recessive;Liddle syndrome 1 Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_2 Bronchiectasis with or without elevated sweat chloride 2 Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_2_liddle_syndrome_3_pseudohypoaldosteronism_type_ib1_autosomal_recessive Bronchiectasis with or without elevated sweat chloride 2;Liddle syndrome 3;Pseudohypoaldosteronism, type IB1, autosomal recessive Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_2_pseudohypoaldosteronism_type_ib1_autosomal_recessive_liddle_syndrome_3 Bronchiectasis with or without elevated sweat chloride 2;Pseudohypoaldosteronism, type IB1, autosomal recessive;Liddle syndrome 3 Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_3 Bronchiectasis with or without elevated sweat chloride 3 Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_3_liddle_syndrome_2_pseudohypoaldosteronism_type_ib1_autosomal_recessive Bronchiectasis with or without elevated sweat chloride 3;Liddle syndrome 2;Pseudohypoaldosteronism, type IB1, autosomal recessive Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_3_liddle_syndrome_2_pseudohypoaldosteronism_type_ib3_autosomal_recessive Bronchiectasis with or without elevated sweat chloride 3;Liddle syndrome 2;Pseudohypoaldosteronism, type IB3, autosomal recessive Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_3_pseudohypoaldosteronism_type_ib1_autosomal_recessive_liddle_syndrome_2 Bronchiectasis with or without elevated sweat chloride 3;Pseudohypoaldosteronism, type IB1, autosomal recessive;Liddle syndrome 2 Supplemental_disease_name DISEASE_NAME:bronchiectasis_with_or_without_elevated_sweat_chloride_3_pseudohypoaldosteronism_type_ib3_autosomal_recessive_liddle_syndrome_2 Bronchiectasis with or without elevated sweat chloride 3;Pseudohypoaldosteronism, type IB3, autosomal recessive;Liddle syndrome 2 Supplemental_disease_name DISEASE_NAME:bronze_diabetes Bronze diabetes Supplemental_disease_name DISEASE_NAME:brooke_spiegler_syndrome_familial_cylindromatosis_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_8_trichoepithelioma_multiple_familial_1 Brooke-Spiegler syndrome;Familial cylindromatosis;Frontotemporal dementia and/or amyotrophic lateral sclerosis 8;Trichoepithelioma, multiple familial, 1 Supplemental_disease_name DISEASE_NAME:brooke_spiegler_syndrome_familial_cylindromatosis_trichoepithelioma_multiple_familial_1 Brooke-Spiegler syndrome;Familial cylindromatosis;Trichoepithelioma, multiple familial, 1 Supplemental_disease_name DISEASE_NAME:brown_oculocutaneous_albinism Brown oculocutaneous albinism Supplemental_disease_name DISEASE_NAME:brown_syndrome Brown syndrome Supplemental_disease_name DISEASE_NAME:brown_vialetto_van_laere_syndrome_1_progressive_bulbar_palsy_of_childhood Brown-Vialetto-van Laere syndrome 1;Progressive bulbar palsy of childhood Supplemental_disease_name DISEASE_NAME:brpf1_related_disorder BRPF1-related disorder Supplemental_disease_name DISEASE_NAME:brsk1_associated_neurodevelopmental_disorder BRSK1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:brsk2_associated_neurodevelopmental_disorder BRSK2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:brsk2_related_disorder BRSK2-related disorder Supplemental_disease_name DISEASE_NAME:brsk2_related_intellectual_disability_and_autism BRSK2-related Intellectual Disability and Autism Supplemental_disease_name DISEASE_NAME:brsk2_related_neurodevelopmental_disorder BRSK2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:bruck_syndrome_1 Bruck syndrome 1 Supplemental_disease_name DISEASE_NAME:bruck_syndrome_1_osteogenesis_imperfecta_type_11 Bruck syndrome 1;Osteogenesis imperfecta type 11 Supplemental_disease_name DISEASE_NAME:bruck_syndrome_2 Bruck syndrome 2 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_1_atrial_fibrillation_familial_10_long_qt_syndrome_3_dilated_cardiomyopathy_1e Brugada syndrome 1;Atrial fibrillation, familial, 10;Long QT syndrome 3;Dilated cardiomyopathy 1E Supplemental_disease_name DISEASE_NAME:brugada_syndrome_1_dilated_cardiomyopathy_1e_long_qt_syndrome_3 Brugada syndrome 1;Dilated cardiomyopathy 1E;Long QT syndrome 3 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_1_long_qt_syndrome_3 Brugada syndrome 1;Long QT syndrome 3 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_1_long_qt_syndrome_3_dilated_cardiomyopathy_1e Brugada syndrome 1;Long QT syndrome 3;Dilated cardiomyopathy 1E Supplemental_disease_name DISEASE_NAME:brugada_syndrome_1_long_qt_syndrome_3_ventricular_fibrillation_paroxysmal_familial_type_1 Brugada syndrome 1;Long QT syndrome 3;Ventricular fibrillation, paroxysmal familial, type 1 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_1_sudden_infant_death_syndrome Brugada syndrome 1;SUDDEN INFANT DEATH SYNDROME Supplemental_disease_name DISEASE_NAME:brugada_syndrome_1_ventricular_fibrillation_paroxysmal_familial_type_1 Brugada syndrome 1;Ventricular fibrillation, paroxysmal familial, type 1 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_3_long_qt_syndrome_8 Brugada syndrome 3;Long QT syndrome 8 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_3_long_qt_syndrome_8_timothy_syndrome Brugada syndrome 3;Long QT syndrome 8;Timothy syndrome Supplemental_disease_name DISEASE_NAME:brugada_syndrome_3_neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures_timothy_syndrome_long_qt_syndrome_8 Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Timothy syndrome;Long QT syndrome 8 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_3_timothy_syndrome Brugada syndrome 3;Timothy syndrome Supplemental_disease_name DISEASE_NAME:brugada_syndrome_3_timothy_syndrome_long_qt_syndrome_8 Brugada syndrome 3;Timothy syndrome;Long QT syndrome 8 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_5_atrial_fibrillation_familial_13_developmental_and_epileptic_encephalopathy_52_generalized_epilepsy_with_febrile_seizures_plus_type_1 Brugada syndrome 5;Atrial fibrillation, familial, 13;Developmental and epileptic encephalopathy, 52;Generalized epilepsy with febrile seizures plus, type 1 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_5_developmental_and_epileptic_encephalopathy_52_atrial_fibrillation_familial_13_generalized_epilepsy_with_febrile_seizures_plus_type_1 Brugada syndrome 5;Developmental and epileptic encephalopathy, 52;Atrial fibrillation, familial, 13;Generalized epilepsy with febrile seizures plus, type 1 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_5_developmental_and_epileptic_encephalopathy_52_generalized_epilepsy_with_febrile_seizures_plus_type_1_atrial_fibrillation_familial_13 Brugada syndrome 5;Developmental and epileptic encephalopathy, 52;Generalized epilepsy with febrile seizures plus, type 1;Atrial fibrillation, familial, 13 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_5_generalized_epilepsy_with_febrile_seizures_plus_type_1_atrial_fibrillation_familial_13_developmental_and_epileptic_encephalopathy_52 Brugada syndrome 5;Generalized epilepsy with febrile seizures plus, type 1;Atrial fibrillation, familial, 13;Developmental and epileptic encephalopathy, 52 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_8_epilepsy_idiopathic_generalized_susceptibility_to_18_sick_sinus_syndrome_2_autosomal_dominant Brugada syndrome 8;Epilepsy, idiopathic generalized, susceptibility to, 18;Sick sinus syndrome 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:brugada_syndrome_8_sick_sinus_syndrome_2_autosomal_dominant Brugada syndrome 8;Sick sinus syndrome 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:brugada_syndrome_8_sick_sinus_syndrome_2_autosomal_dominant_epilepsy_idiopathic_generalized_susceptibility_to_18 Brugada syndrome 8;Sick sinus syndrome 2, autosomal dominant;Epilepsy, idiopathic generalized, susceptibility to, 18 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_9_spinocerebellar_ataxia_type_19_22 Brugada syndrome 9;Spinocerebellar ataxia type 19/22 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_atrial_fibrillation Brugada syndrome;Atrial fibrillation Supplemental_disease_name DISEASE_NAME:brugada_syndrome_cardiomyopathy Brugada syndrome;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:brugada_syndrome_hypertrophic_cardiomyopathy_atrial_fibrillation_congestive_heart_failure Brugada syndrome;Hypertrophic cardiomyopathy;Atrial fibrillation;Congestive heart failure Supplemental_disease_name DISEASE_NAME:brugada_syndrome_left_ventricular_noncompaction_cardiomyopathy_hypertrophic_cardiomyopathy Brugada syndrome;Left ventricular noncompaction cardiomyopathy;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:brugada_syndrome_lidocaine_induced Brugada syndrome, lidocaine-induced Supplemental_disease_name DISEASE_NAME:brugada_syndrome_long_qt_syndrome_3 Brugada syndrome;Long QT syndrome 3 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_primary_dilated_cardiomyopathy Brugada syndrome;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:brugada_syndrome_shorter_than_normal_qt_interval Brugada syndrome (shorter-than-normal QT interval) Supplemental_disease_name DISEASE_NAME:bruxism_delayed_gross_motor_development_stereotypic_movement_disorder_delayed_speech_and_language_development Bruxism;Delayed gross motor development;Stereotypic movement disorder;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:brwd1_related_disorder BRWD1-related disorder Supplemental_disease_name DISEASE_NAME:brwd3_related_disorder BRWD3-related disorder Supplemental_disease_name DISEASE_NAME:brwd3_related_syndromic_intellectual_disability BRWD3- related syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:brwd3_related_x_linked_syndromic_intellectual_disability BRWD3-related X-linked syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:bscl2_related_developmental_and_epileptic_encephalopathy BSCL2-related Developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:bscl2_related_disorder BSCL2-related disorder Supplemental_disease_name DISEASE_NAME:bsg_related_disorder BSG-related disorder Supplemental_disease_name DISEASE_NAME:bsn_associated_epilepsy BSN-associated epilepsy Supplemental_disease_name DISEASE_NAME:bsn_associated_neurodevelopmental_disorder BSN-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:bsn_associated_seizure_disorder BSN-associated seizure disorder Supplemental_disease_name DISEASE_NAME:bsn_related_disorder BSN-related disorder Supplemental_disease_name DISEASE_NAME:bsn_related_epilepsy BSN related epilepsy Supplemental_disease_name DISEASE_NAME:bsnd_related_disorder BSND-related disorder Supplemental_disease_name DISEASE_NAME:btaf1_related_disorder BTAF1-related disorder Supplemental_disease_name DISEASE_NAME:btbd2_related_disorder BTBD2-related disorder Supplemental_disease_name DISEASE_NAME:btd_related_disorder BTD-related disorder Supplemental_disease_name DISEASE_NAME:btk_related_disorder BTK-related disorder Supplemental_disease_name DISEASE_NAME:btn2a2_related_disorder BTN2A2-related disorder Supplemental_disease_name DISEASE_NAME:btnl2_related_condition BTNL2-related condition Supplemental_disease_name DISEASE_NAME:btrc_related_disorder BTRC-related disorder Supplemental_disease_name DISEASE_NAME:bub1_related_disorder BUB1-related disorder Supplemental_disease_name DISEASE_NAME:bub1b_related_disorder BUB1B-related disorder Supplemental_disease_name DISEASE_NAME:bub3_related_disorder BUB3-related disorder Supplemental_disease_name DISEASE_NAME:budd_chiari_syndrome_susceptibility_to Budd-Chiari syndrome, susceptibility to Supplemental_disease_name DISEASE_NAME:budd_chiari_syndrome_susceptibility_to_somatic Budd-Chiari syndrome, susceptibility to, somatic Supplemental_disease_name DISEASE_NAME:bulbar_palsy_recurrent_respiratory_infections_epileptic_encephalopathy Bulbar palsy;Recurrent respiratory infections;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:bullous_lung_disease Bullous lung disease Supplemental_disease_name DISEASE_NAME:buratti_harel_syndrome Buratti-Harel syndrome Supplemental_disease_name DISEASE_NAME:buruli_ulcer_susceptibility_to Buruli ulcer, susceptibility to Supplemental_disease_name DISEASE_NAME:butyrylcholinesterase_activity Butyrylcholinesterase activity Supplemental_disease_name DISEASE_NAME:butyrylcholinesterase_deficiency Butyrylcholinesterase deficiency Supplemental_disease_name DISEASE_NAME:butyrylcholinesterase_deficiency_fluoride_resistant_japanese_type Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type Supplemental_disease_name DISEASE_NAME:bves_related_disorder BVES-related disorder Supplemental_disease_name DISEASE_NAME:c10orf55_related_disorder C10orf55-related disorder Supplemental_disease_name DISEASE_NAME:c11orf65_related_disorder C11orf65-related disorder Supplemental_disease_name DISEASE_NAME:c12orf4_related_disorder C12orf4-related disorder Supplemental_disease_name DISEASE_NAME:c12orf57_related_disorder C12orf57-related disorder Supplemental_disease_name DISEASE_NAME:c14orf39_related_disorder C14orf39-related disorder Supplemental_disease_name DISEASE_NAME:c16orf58_related_condition C16orf58-related condition Supplemental_disease_name DISEASE_NAME:c17orf107_related_condition C17orf107-related condition Supplemental_disease_name DISEASE_NAME:c19orf12_related_disorder C19orf12-related disorder Supplemental_disease_name DISEASE_NAME:c19orf44_related_disorder C19orf44-related disorder Supplemental_disease_name DISEASE_NAME:c1_inhibitor_deficiency_hereditary_angioedema_type_1 C1 inhibitor deficiency;Hereditary angioedema type 1 Supplemental_disease_name DISEASE_NAME:c1galt1c1_related_disorder C1GALT1C1-related disorder Supplemental_disease_name DISEASE_NAME:c1orf69_iba57_related_disorder C1orf69/IBA57-related disorder Supplemental_disease_name DISEASE_NAME:c1q_deficiency C1Q deficiency Supplemental_disease_name DISEASE_NAME:c1q_deficiency_1 C1Q deficiency 1 Supplemental_disease_name DISEASE_NAME:c1q_deficiency_2 C1Q deficiency 2 Supplemental_disease_name DISEASE_NAME:c1q_deficiency_3 C1Q deficiency 3 Supplemental_disease_name DISEASE_NAME:c1qa_related_disorder C1QA-related disorder Supplemental_disease_name DISEASE_NAME:c1qb_related_disorder C1QB-related disorder Supplemental_disease_name DISEASE_NAME:c1qbp_related_disorder C1QBP-related disorder Supplemental_disease_name DISEASE_NAME:c1qc_related_disorder C1QC-related disorder Supplemental_disease_name DISEASE_NAME:c1qtnf5_related_disorder C1QTNF5-related disorder Supplemental_disease_name DISEASE_NAME:c1r_related_disorder C1R-related disorder Supplemental_disease_name DISEASE_NAME:c1s_related_disorder C1S-related disorder Supplemental_disease_name DISEASE_NAME:c2_deficiency_type_i C2 deficiency, type I Supplemental_disease_name DISEASE_NAME:c2_deficiency_type_ii C2 deficiency, type II Supplemental_disease_name DISEASE_NAME:c2_related_disorder C2-related disorder Supplemental_disease_name DISEASE_NAME:c2cd3_related_disorder C2CD3-related disorder Supplemental_disease_name DISEASE_NAME:c2orf69_related_disorder C2orf69-related disorder Supplemental_disease_name DISEASE_NAME:c3_glomerulonephritis C3 glomerulonephritis Supplemental_disease_name DISEASE_NAME:c3_glomerulonephritis_atypical_hemolytic_uremic_syndrome C3 glomerulonephritis;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:c3_glomerulonephritis_atypical_hemolytic_uremic_syndrome_complement_component_3_deficiency C3 glomerulonephritis;Atypical hemolytic-uremic syndrome;Complement component 3 deficiency Supplemental_disease_name DISEASE_NAME:c3_glomerulonephritis_complement_component_3_deficiency_atypical_hemolytic_uremic_syndrome C3 glomerulonephritis;Complement component 3 deficiency;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:c3_polymorphism_hav_4_1_plus_minus_type C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE Supplemental_disease_name DISEASE_NAME:c3_related_disorder C3-related disorder Supplemental_disease_name DISEASE_NAME:c3ar1_related_disorder C3AR1-related disorder Supplemental_disease_name DISEASE_NAME:c3hex_ability_to_smell C3HEX, ability to smell Supplemental_disease_name DISEASE_NAME:c3s_c3f_polymorphism C3S/C3F POLYMORPHISM Supplemental_disease_name DISEASE_NAME:c4bpa_related_disorder C4BPA-related disorder Supplemental_disease_name DISEASE_NAME:c4bpb_related_disorder C4BPB-related disorder Supplemental_disease_name DISEASE_NAME:c5_related_disorder C5-related disorder Supplemental_disease_name DISEASE_NAME:c5ar1_related_disorder C5AR1-related disorder Supplemental_disease_name DISEASE_NAME:c6_a_b_polymorphism C6 A/B POLYMORPHISM Supplemental_disease_name DISEASE_NAME:c6_deficiency_subtotal C6 deficiency, subtotal Supplemental_disease_name DISEASE_NAME:c6_related_disorder C6-related disorder Supplemental_disease_name DISEASE_NAME:c7_and_c6_deficiency_combined_subtotal C7 and C6 deficiency, combined subtotal Supplemental_disease_name DISEASE_NAME:c7_related_disorder C7-related disorder Supplemental_disease_name DISEASE_NAME:c8a_related_disorder C8A-related disorder Supplemental_disease_name DISEASE_NAME:c8b_related_disorder C8B-related disorder Supplemental_disease_name DISEASE_NAME:c8g_related_disorder C8G-related disorder Supplemental_disease_name DISEASE_NAME:c9_related_disorder C9-related disorder Supplemental_disease_name DISEASE_NAME:c9orf72_related_disorder C9orf72-related disorder Supplemental_disease_name DISEASE_NAME:ca12_related_disorder CA12-related disorder Supplemental_disease_name DISEASE_NAME:ca2_related_disorder CA2-related disorder Supplemental_disease_name DISEASE_NAME:ca4_related_disorder CA4-related disorder Supplemental_disease_name DISEASE_NAME:ca5a_related_disorder CA5A-related disorder Supplemental_disease_name DISEASE_NAME:ca_tu_alloantigen_polymorphism Ca/Tu ALLOANTIGEN POLYMORPHISM Supplemental_disease_name DISEASE_NAME:cabin1_related_disorder CABIN1-related disorder Supplemental_disease_name DISEASE_NAME:cabp2_related_disorder CABP2-related disorder Supplemental_disease_name DISEASE_NAME:cabp4_related_disorder CABP4-related disorder Supplemental_disease_name DISEASE_NAME:cacna1a_associated_disorder CACNA1A-associated disorder Supplemental_disease_name DISEASE_NAME:cacna1a_associated_disorders CACNA1A-associated disorders Supplemental_disease_name DISEASE_NAME:cacna1a_related_complex_neurodevelopmental_disorder CACNA1A-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cacna1a_related_disorder CACNA1A-related disorder Supplemental_disease_name DISEASE_NAME:cacna1b_related_disorder CACNA1B-related disorder Supplemental_disease_name DISEASE_NAME:cacna1b_related_neurodevelopmental_disorder CACNA1B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cacna1c_related_disorder CACNA1C-related disorder Supplemental_disease_name DISEASE_NAME:cacna1d_related_disorder CACNA1D-related disorder Supplemental_disease_name DISEASE_NAME:cacna1d_related_neurodevelopmental_and_endocrine_disorders CACNA1D-related neurodevelopmental and endocrine disorders Supplemental_disease_name DISEASE_NAME:cacna1e_related_disorder CACNA1E-related disorder Supplemental_disease_name DISEASE_NAME:cacna1f_related_disorder CACNA1F-related disorder Supplemental_disease_name DISEASE_NAME:cacna1f_related_retinopathy CACNA1F-related retinopathy Supplemental_disease_name DISEASE_NAME:cacna1g_related_disorder CACNA1G-related disorder Supplemental_disease_name DISEASE_NAME:cacna1h_related_disorder CACNA1H-related disorder Supplemental_disease_name DISEASE_NAME:cacna1i_related_disorder CACNA1I-related disorder Supplemental_disease_name DISEASE_NAME:cacna1s_related_disorder CACNA1S-related disorder Supplemental_disease_name DISEASE_NAME:cacna2d1_related_disorder CACNA2D1-related disorder Supplemental_disease_name DISEASE_NAME:cacna2d2_related_disorder CACNA2D2-related disorder Supplemental_disease_name DISEASE_NAME:cacna2d3_related_disorder CACNA2D3-related disorder Supplemental_disease_name DISEASE_NAME:cacna2d4_related_disorder CACNA2D4-related disorder Supplemental_disease_name DISEASE_NAME:cacna2d4_related_retinopathy CACNA2D4-related retinopathy Supplemental_disease_name DISEASE_NAME:cacnb2_related_disorder CACNB2-related disorder Supplemental_disease_name DISEASE_NAME:cacnb4_related_disorder CACNB4-related disorder Supplemental_disease_name DISEASE_NAME:cacng2_related_disorder CACNG2-related disorder Supplemental_disease_name DISEASE_NAME:cad_related_disorder CAD-related disorder Supplemental_disease_name DISEASE_NAME:cadps2_related_disorder CADPS2-related disorder Supplemental_disease_name DISEASE_NAME:cadps_related_disorder CADPS-related disorder Supplemental_disease_name DISEASE_NAME:cafdadd_disease CAFDADD disease Supplemental_disease_name DISEASE_NAME:cafe_au_lait_spot Cafe-au-lait spot Supplemental_disease_name DISEASE_NAME:cafe_au_lait_spot_juvenile_myelomonocytic_leukemia Cafe-au-lait spot;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:cafe_au_lait_spots_multiple Cafe au lait spots, multiple Supplemental_disease_name DISEASE_NAME:cafe_au_lait_spots_multiple_focal_onset_seizure_motor_delay Cafe au lait spots, multiple;Focal-onset seizure;Motor delay Supplemental_disease_name DISEASE_NAME:cafe_au_lait_spots_multiple_macular_hypopigmented_whorls_streaks_and_patches_global_brain_atrophy_seizure Cafe au lait spots, multiple;Macular hypopigmented whorls, streaks, and patches;Global brain atrophy;Seizure Supplemental_disease_name DISEASE_NAME:cafe_au_lait_spots_multiple_subcutaneous_neurofibroma Cafe au lait spots, multiple;Subcutaneous neurofibroma Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal_neurofibromatosis_type_1 Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1_neurofibromatosis_familial_spinal Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1 Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal_neurofibromatosis_type_1_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_juvenile_myelomonocytic_leukemia Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1 Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1 Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:cagsss CAGSSS Supplemental_disease_name DISEASE_NAME:calcifying_nested_epithelial_stromal_tumor_of_the_liver Calcifying nested epithelial stromal tumor of the liver Supplemental_disease_name DISEASE_NAME:calcitonin_polymorphism Calcitonin polymorphism Supplemental_disease_name DISEASE_NAME:calcr_related_disorder CALCR-related disorder Supplemental_disease_name DISEASE_NAME:calf_muscle_atrophy Calf muscle atrophy Supplemental_disease_name DISEASE_NAME:calf_muscle_hypertrophy_proximal_lower_limb_muscle_weakness_motor_delay Calf muscle hypertrophy;Proximal lower limb muscle weakness;Motor delay Supplemental_disease_name DISEASE_NAME:calm1_related_disorder CALM1-related disorder Supplemental_disease_name DISEASE_NAME:calm2_related_disorder CALM2-related disorder Supplemental_disease_name DISEASE_NAME:calm3_related_disorder CALM3-related disorder Supplemental_disease_name DISEASE_NAME:calr3_related_disorder CALR3-related disorder Supplemental_disease_name DISEASE_NAME:calr_related_disorder CALR-related disorder Supplemental_disease_name DISEASE_NAME:calvarial_doughnut_lesions_bone_fragility_syndrome Calvarial doughnut lesions-bone fragility syndrome Supplemental_disease_name DISEASE_NAME:calvarial_doughnut_lesions_with_bone_fragility_and_spondylometaphyseal_dysplasia Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:calvarial_doughnut_lesions_with_bone_fragility_with_or_without_spondylometaphyseal_dysplasia Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:camk2a_related_disorder CAMK2A-related disorder Supplemental_disease_name DISEASE_NAME:camk2b_related_disorder CAMK2B-related disorder Supplemental_disease_name DISEASE_NAME:camk2d_associated_neurodevelopmental_disorder CAMK2D-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:camk2d_related_condition CAMK2D-related condition Supplemental_disease_name DISEASE_NAME:camk2d_related_disorder CAMK2D-related disorder Supplemental_disease_name DISEASE_NAME:camk2d_related_neurodevelopmental_disorder_and_dilated_cardiomyopathy CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:camk2g_related_disorder CAMK2G-related disorder Supplemental_disease_name DISEASE_NAME:camk2g_related_syndromic_intellectual_disability CAMK2G-related syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:camk4_related_disorder CAMK4-related disorder Supplemental_disease_name DISEASE_NAME:campomelic_dysplasia_with_autosomal_sex_reversal CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL Supplemental_disease_name DISEASE_NAME:camptomelic_dysplasia Camptomelic dysplasia Supplemental_disease_name DISEASE_NAME:camptosynpolydactyly_complex Camptosynpolydactyly, complex Supplemental_disease_name DISEASE_NAME:camsap1_related_neuronal_migration_disorder CAMSAP1-related neuronal migration disorder Supplemental_disease_name DISEASE_NAME:camta1_related_disorder CAMTA1-related disorder Supplemental_disease_name DISEASE_NAME:camurati_engelmann_disease_type_1 Camurati-Engelmann disease type 1 Supplemental_disease_name DISEASE_NAME:camurati_engelmann_disease_type_2 Camurati-Engelmann disease type 2 Supplemental_disease_name DISEASE_NAME:canavan_disease_familial_form Canavan Disease, Familial Form Supplemental_disease_name DISEASE_NAME:cancer_alopecia_pigment_dyscrasia_onychodystrophy_and_keratoderma Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Supplemental_disease_name DISEASE_NAME:cancer_alopecia_pigment_dyscrasia_onychodystrophy_and_keratoderma_dyschromatosis_universalis_hereditaria_1 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma;Dyschromatosis universalis hereditaria 1 Supplemental_disease_name DISEASE_NAME:cancer_or_benign_tumor Cancer or benign tumor Supplemental_disease_name DISEASE_NAME:cancer_progression_and_tumor_cell_motility Cancer progression and tumor cell motility Supplemental_disease_name DISEASE_NAME:candidiasis_familial_6 Candidiasis, familial, 6 Supplemental_disease_name DISEASE_NAME:candidiasis_familial_8 Candidiasis, familial, 8 Supplemental_disease_name DISEASE_NAME:candidiasis_familial_8_psoriasis_13_susceptibility_to Candidiasis, familial, 8;Psoriasis 13, susceptibility to Supplemental_disease_name DISEASE_NAME:candidiasis_familial_9 Candidiasis, familial, 9 Supplemental_disease_name DISEASE_NAME:cant1_related_disorder CANT1-related disorder Supplemental_disease_name DISEASE_NAME:cap2_associated_dilated_cardiomyopathy CAP2-associated dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:cap_congenital_myopathy_with_arthrogryposis_multiplex_congenita_without_heart_involvement CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement Supplemental_disease_name DISEASE_NAME:cap_myopathy Cap myopathy Supplemental_disease_name DISEASE_NAME:capecitabine_response_toxicity capecitabine response - Toxicity Supplemental_disease_name DISEASE_NAME:capillary_infantile_hemangioma Capillary infantile hemangioma Supplemental_disease_name DISEASE_NAME:capillary_infantile_hemangioma_congenital_heart_defects_multiple_types_7_hereditary_lymphedema_type_i Capillary infantile hemangioma;Congenital heart defects, multiple types, 7;Hereditary lymphedema type I Supplemental_disease_name DISEASE_NAME:capillary_infantile_hemangioma_hereditary_lymphedema_type_i_congenital_heart_defects_multiple_types_7 Capillary infantile hemangioma;Hereditary lymphedema type I;Congenital heart defects, multiple types, 7 Supplemental_disease_name DISEASE_NAME:capillary_malformation Capillary malformation Supplemental_disease_name DISEASE_NAME:capillary_malformation_arteriovenous_malformation Capillary malformation-arteriovenous malformation Supplemental_disease_name DISEASE_NAME:capillary_malformation_arteriovenous_malformation_1 Capillary malformation-arteriovenous malformation 1 Supplemental_disease_name DISEASE_NAME:capillary_malformation_arteriovenous_malformation_1_basal_cell_carcinoma_susceptibility_to_1 Capillary malformation-arteriovenous malformation 1;Basal cell carcinoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:capillary_malformation_arteriovenous_malformation_2 Capillary malformation-arteriovenous malformation 2 Supplemental_disease_name DISEASE_NAME:capillary_malformation_arteriovenous_malformation_2_lymphatic_malformation_7 Capillary malformation-arteriovenous malformation 2;Lymphatic malformation 7 Supplemental_disease_name DISEASE_NAME:capillary_malformation_arteriovenous_malformation_syndrome Capillary malformation-arteriovenous malformation syndrome Supplemental_disease_name DISEASE_NAME:capillary_malformation_sturge_weber_syndrome Capillary malformation;Sturge-Weber syndrome Supplemental_disease_name DISEASE_NAME:capillary_telangiectasia_brain Capillary Telangiectasia, Brain Supplemental_disease_name DISEASE_NAME:capn10_related_disorder CAPN10-related disorder Supplemental_disease_name DISEASE_NAME:capn12_related_disorder CAPN12-related disorder Supplemental_disease_name DISEASE_NAME:capn15_related_disorder CAPN15-related disorder Supplemental_disease_name DISEASE_NAME:capn1_related_disorder CAPN1-related disorder Supplemental_disease_name DISEASE_NAME:capn3_related_disorder CAPN3-related disorder Supplemental_disease_name DISEASE_NAME:capn5_related_disorder CAPN5-related disorder Supplemental_disease_name DISEASE_NAME:capok_syndrome CAPOK syndrome Supplemental_disease_name DISEASE_NAME:caprin1_associated_disorder CAPRIN1-associated disorder Supplemental_disease_name DISEASE_NAME:caprin1_related_disorder CAPRIN1-related disorder Supplemental_disease_name DISEASE_NAME:caprin1_related_neurodevelopmental_disorders CAPRIN1-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:caps_related_disorder CAPS-related disorder Supplemental_disease_name DISEASE_NAME:captopril_response_efficacy captopril response - Efficacy Supplemental_disease_name DISEASE_NAME:carasil_syndrome CARASIL syndrome Supplemental_disease_name DISEASE_NAME:carasil_syndrome_age_related_macular_degeneration_7_cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_2 CARASIL syndrome;Age related macular degeneration 7;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 Supplemental_disease_name DISEASE_NAME:carasil_syndrome_cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_2 CARASIL syndrome;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 Supplemental_disease_name DISEASE_NAME:carbamazepine_hypersensitivity Carbamazepine hypersensitivity Supplemental_disease_name DISEASE_NAME:carbamazepine_response_dosage carbamazepine response - Dosage Supplemental_disease_name DISEASE_NAME:carbamoyl_phosphate_synthetase_1_deficiency Carbamoyl phosphate synthetase 1 deficiency Supplemental_disease_name DISEASE_NAME:carbamoyl_phosphate_synthetase_i_polymorphism CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM Supplemental_disease_name DISEASE_NAME:carbonic_anhydrase_i_deficiency Carbonic anhydrase I deficiency Supplemental_disease_name DISEASE_NAME:carbonic_anhydrase_i_guam Carbonic anhydrase I, Guam Supplemental_disease_name DISEASE_NAME:carbonic_anhydrase_ii_variant Carbonic anhydrase II variant Supplemental_disease_name DISEASE_NAME:carboxymethyl_dextran_a2_gadolinium_dota carboxymethyl-dextran-A2-gadolinium-DOTA Supplemental_disease_name DISEASE_NAME:carcinogenesis_of_nasopharyngeal_carcinoma Carcinogenesis of nasopharyngeal carcinoma Supplemental_disease_name DISEASE_NAME:carcinoid_tumor_of_intestine Carcinoid tumor of intestine Supplemental_disease_name DISEASE_NAME:carcinoma_adrenocortical_androgen_secreting Carcinoma, adrenocortical, androgen-secreting Supplemental_disease_name DISEASE_NAME:carcinoma_of_colon_birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome_familial_spontaneous_pneumothorax Carcinoma of colon;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:carcinoma_of_colon_familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_17p11_2_microduplication_syndrome Carcinoma of colon;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:carcinoma_of_colon_hepatocellular_carcinoma_desmoid_disease_hereditary_familial_adenomatous_polyposis_1_neoplasm_of_stomach Carcinoma of colon;Hepatocellular carcinoma;Desmoid disease, hereditary;Familial adenomatous polyposis 1;Neoplasm of stomach Supplemental_disease_name DISEASE_NAME:carcinoma_of_colon_mosaic_variegated_aneuploidy_syndrome_1_premature_chromatid_separation_trait Carcinoma of colon;Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait Supplemental_disease_name DISEASE_NAME:carcinoma_of_colon_neoplasm_of_stomach_desmoid_disease_hereditary_familial_adenomatous_polyposis_1_hepatocellular_carcinoma Carcinoma of colon;Neoplasm of stomach;Desmoid disease, hereditary;Familial adenomatous polyposis 1;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:carcinoma_of_colon_oligodontia_cancer_predisposition_syndrome Carcinoma of colon;Oligodontia-cancer predisposition syndrome Supplemental_disease_name DISEASE_NAME:carcinoma_of_head_of_pancreas Carcinoma of head of pancreas Supplemental_disease_name DISEASE_NAME:carcinoma_of_male_breast Carcinoma of male breast Supplemental_disease_name DISEASE_NAME:carcinoma_of_pancreas_juvenile_polyposis_syndrome_myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Carcinoma of pancreas;Juvenile polyposis syndrome;Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:carcinoma_of_pancreas_peutz_jeghers_syndrome_malignant_tumor_of_testis Carcinoma of pancreas;Peutz-Jeghers syndrome;Malignant tumor of testis Supplemental_disease_name DISEASE_NAME:carcinoma_of_pancreas_peutz_jeghers_syndrome_melanoma_cutaneous_malignant_susceptibility_to_1_germ_cell_tumor_of_testis Carcinoma of pancreas;Peutz-Jeghers syndrome;Melanoma, cutaneous malignant, susceptibility to, 1;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:carcinoma_of_parotid_gland Carcinoma of parotid gland Supplemental_disease_name DISEASE_NAME:card10_related_disorder CARD10-related disorder Supplemental_disease_name DISEASE_NAME:card11_related_disorder CARD11-related disorder Supplemental_disease_name DISEASE_NAME:card14_related_disorder CARD14-related disorder Supplemental_disease_name DISEASE_NAME:card8_related_disorder CARD8-related disorder Supplemental_disease_name DISEASE_NAME:card9_related_disorder CARD9-related disorder Supplemental_disease_name DISEASE_NAME:cardiac_anomalies_developmental_delay_facial_dysmorphism_syndrome Cardiac anomalies - developmental delay - facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:cardiac_anomalies_developmental_delay_facial_dysmorphism_syndrome_dextro_looped_transposition_of_the_great_arteries Cardiac anomalies - developmental delay - facial dysmorphism syndrome;Dextro-looped transposition of the great arteries Supplemental_disease_name DISEASE_NAME:cardiac_anomalies_short_stature_joint_hypermobility_facial_dysmorphism_syndrome_due_to_tab2_mutation Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation Supplemental_disease_name DISEASE_NAME:cardiac_arrest_brugada_syndrome_sinoatrial_node_disorder Cardiac arrest;Brugada syndrome;Sinoatrial node disorder Supplemental_disease_name DISEASE_NAME:cardiac_arrest_hypertrophic_cardiomyopathy Cardiac arrest;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:cardiac_arrest_sudden_unexpected_death_in_epilepsy_hypertrophic_cardiomyopathy Cardiac arrest;Sudden unexpected death in epilepsy;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:cardiac_arrhythmia Cardiac arrhythmia Supplemental_disease_name DISEASE_NAME:cardiac_arrhythmia_acute_rhabdomyolysis_episodic_flaccid_weakness_seizure_intellectual_disability Cardiac arrhythmia;Acute rhabdomyolysis;Episodic flaccid weakness;Seizure;Intellectual disability Supplemental_disease_name DISEASE_NAME:cardiac_arrhythmia_ankyrin_b_related Cardiac arrhythmia, ankyrin-B-related Supplemental_disease_name DISEASE_NAME:cardiac_arrhythmia_intellectual_disability_acute_rhabdomyolysis_episodic_flaccid_weakness_seizure Cardiac arrhythmia;Intellectual disability;Acute rhabdomyolysis;Episodic flaccid weakness;Seizure Supplemental_disease_name DISEASE_NAME:cardiac_arrhythmia_noncompaction_cardiomyopathy Cardiac arrhythmia;Noncompaction cardiomyopathy Supplemental_disease_name DISEASE_NAME:cardiac_conduction_defect_nonprogressive CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE Supplemental_disease_name DISEASE_NAME:cardiac_conduction_disease_with_or_without_cardiomyopathy_2 Cardiac conduction disease with or without cardiomyopathy 2 Supplemental_disease_name DISEASE_NAME:cardiac_conduction_disease_with_or_without_dilated_cardiomyopathy_1 Cardiac conduction disease with or without dilated cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:cardiac_facial_and_digital_anomalies_with_developmental_delay Cardiac, facial, and digital anomalies with developmental delay Supplemental_disease_name DISEASE_NAME:cardiac_fibrosis Cardiac fibrosis Supplemental_disease_name DISEASE_NAME:cardiac_hypertrophy Cardiac hypertrophy Supplemental_disease_name DISEASE_NAME:cardiac_inflammation Cardiac inflammation Supplemental_disease_name DISEASE_NAME:cardiac_ischemic_injury Cardiac ischemic injury Supplemental_disease_name DISEASE_NAME:cardiac_rhabdomyoma_hamartoma_seizure Cardiac rhabdomyoma;Hamartoma;Seizure Supplemental_disease_name DISEASE_NAME:cardiac_urogenital_syndrome Cardiac-urogenital syndrome Supplemental_disease_name DISEASE_NAME:cardiac_urogenital_syndrome_encephalitis_encephalopathy_mild_with_reversible_myelin_vacuolization Cardiac-urogenital syndrome;Encephalitis/encephalopathy, mild, with reversible myelin vacuolization Supplemental_disease_name DISEASE_NAME:cardiac_valvular_defect_developmental Cardiac valvular defect, developmental Supplemental_disease_name DISEASE_NAME:cardiac_valvular_dysplasia_2 Cardiac valvular dysplasia 2 Supplemental_disease_name DISEASE_NAME:cardiac_valvular_dysplasia_x_linked Cardiac valvular dysplasia, X-linked Supplemental_disease_name DISEASE_NAME:cardio_cutaneous_syndrome Cardio-cutaneous syndrome Supplemental_disease_name DISEASE_NAME:cardio_facio_cutaneous_syndrome Cardio-facio-cutaneous syndrome Supplemental_disease_name DISEASE_NAME:cardio_facio_cutaneous_syndrome_noonan_syndrome Cardio-facio-cutaneous syndrome;Noonan syndrome Supplemental_disease_name DISEASE_NAME:cardioacrofacial_dysplasia Cardioacrofacial dysplasia Supplemental_disease_name DISEASE_NAME:cardioacrofacial_dysplasia_1 Cardioacrofacial dysplasia 1 Supplemental_disease_name DISEASE_NAME:cardioacrofacial_dysplasia_1_pigmented_nodular_adrenocortical_disease_primary_4 Cardioacrofacial dysplasia 1;Pigmented nodular adrenocortical disease, primary, 4 Supplemental_disease_name DISEASE_NAME:cardioacrofacial_dysplasia_2 Cardioacrofacial dysplasia 2 Supplemental_disease_name DISEASE_NAME:cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_1 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Supplemental_disease_name DISEASE_NAME:cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_1_myopia_6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1;Myopia 6 Supplemental_disease_name DISEASE_NAME:cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Supplemental_disease_name DISEASE_NAME:cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_3 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Supplemental_disease_name DISEASE_NAME:cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_4 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_spectrum_disorder Cardiofaciocutaneous spectrum disorder Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_syndrome_1_leopard_syndrome_3_noonan_syndrome_7 Cardiofaciocutaneous syndrome 1;LEOPARD syndrome 3;Noonan syndrome 7 Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_syndrome_1_noonan_syndrome_1 Cardiofaciocutaneous syndrome 1;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_syndrome_1_noonan_syndrome_7_leopard_syndrome_3_lung_carcinoma_noonan_syndrome_1 Cardiofaciocutaneous syndrome 1;Noonan syndrome 7;LEOPARD syndrome 3;Lung carcinoma;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_syndrome_2_linear_nevus_sebaceous_syndrome_noonan_syndrome_3_autoimmune_lymphoproliferative_syndrome_type_4_acute_myeloid_leukemia Cardiofaciocutaneous syndrome 2;Linear nevus sebaceous syndrome;Noonan syndrome 3;Autoimmune lymphoproliferative syndrome type 4;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_syndrome_2_noonan_syndrome_3 Cardiofaciocutaneous syndrome 2;Noonan syndrome 3 Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_syndrome_3_melorheostosis Cardiofaciocutaneous syndrome 3;Melorheostosis Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_syndrome_3_noonan_syndrome_1 Cardiofaciocutaneous syndrome 3;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_syndrome_3_noonan_syndrome_1_melorheostosis Cardiofaciocutaneous syndrome 3;Noonan syndrome 1;Melorheostosis Supplemental_disease_name DISEASE_NAME:cardiofaciocutaneous_syndrome_4_noonan_syndrome Cardiofaciocutaneous syndrome 4;Noonan syndrome Supplemental_disease_name DISEASE_NAME:cardiofacioneurodevelopmental_syndrome Cardiofacioneurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:cardiogenetic_disease Cardiogenetic disease Supplemental_disease_name DISEASE_NAME:cardiomyocyte_hypertrophy Cardiomyocyte hypertrophy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_amyloidosis Cardiomyopathy;Amyloidosis Supplemental_disease_name DISEASE_NAME:cardiomyopathy_amyloidosis_hereditary_systemic_1 Cardiomyopathy;Amyloidosis, hereditary systemic 1 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_and_deafness Cardiomyopathy and Deafness Supplemental_disease_name DISEASE_NAME:cardiomyopathy_apical_hypertrophic_and_neuropathy Cardiomyopathy, apical hypertrophic, and neuropathy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_becker_muscular_dystrophy_duchenne_muscular_dystrophy_dystrophin_deficiency Cardiomyopathy;Becker muscular dystrophy;Duchenne muscular dystrophy;Dystrophin deficiency Supplemental_disease_name DISEASE_NAME:cardiomyopathy_becker_muscular_dystrophy_dystrophin_deficiency_duchenne_muscular_dystrophy Cardiomyopathy;Becker muscular dystrophy;Dystrophin deficiency;Duchenne muscular dystrophy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_100 Cardiomyopathy, dilated, 100 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_1ll Cardiomyopathy, dilated, 1LL Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_1mm Cardiomyopathy, dilated, 1MM Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_1qq Cardiomyopathy, dilated, 1QQ Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2c Cardiomyopathy, dilated, 2c Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2d Cardiomyopathy, dilated, 2D Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2e Cardiomyopathy, dilated, 2E Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2e_hypertrophic_cardiomyopathy_17 Cardiomyopathy, dilated, 2E;Hypertrophic cardiomyopathy 17 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2f Cardiomyopathy, dilated, 2F Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2g Cardiomyopathy, dilated, 2G Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2h Cardiomyopathy, dilated, 2H Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2i Cardiomyopathy, dilated, 2I Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2j Cardiomyopathy, dilated, 2j Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2k Cardiomyopathy, dilated, 2K Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2l Cardiomyopathy, dilated, 2l Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2m Cardiomyopathy, dilated, 2M Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_2n CARDIOMYOPATHY, DILATED, 2N Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_3c Cardiomyopathy, dilated, 3C Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_and_heart_failure Cardiomyopathy, dilated, and heart failure Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_dysplasia_8 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_dysplasia_8_keratosis_palmoplantaris_striata_2 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular dysplasia 8;Keratosis palmoplantaris striata 2 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_keratosis_palmoplantaris_striata_2_lethal_acantholytic_epidermolysis_bullosa_arrhythmogenic_right_ventricular_dysplasia_8_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Keratosis palmoplantaris striata 2;Lethal acantholytic epidermolysis bullosa;Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_lethal_acantholytic_epidermolysis_bullosa_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_keratosis_palmoplantaris_striata_2_arrhythmogenic_right_ventricular_dysplasia_8 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Lethal acantholytic epidermolysis bullosa;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Keratosis palmoplantaris striata 2;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_lethal_acantholytic_epidermolysis_bullosa_keratosis_palmoplantaris_striata_2_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_arrhythmogenic_right_ventricular_dysplasia_8 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Lethal acantholytic epidermolysis bullosa;Keratosis palmoplantaris striata 2;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_duchenne_muscular_dystrophy_becker_muscular_dystrophy_dystrophin_deficiency Cardiomyopathy;Duchenne muscular dystrophy;Becker muscular dystrophy;Dystrophin deficiency Supplemental_disease_name DISEASE_NAME:cardiomyopathy_duchenne_muscular_dystrophy_dystrophin_deficiency_becker_muscular_dystrophy Cardiomyopathy;Duchenne muscular dystrophy;Dystrophin deficiency;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dystrophin_deficiency_becker_muscular_dystrophy_duchenne_muscular_dystrophy Cardiomyopathy;Dystrophin deficiency;Becker muscular dystrophy;Duchenne muscular dystrophy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_dystrophin_deficiency_duchenne_muscular_dystrophy_becker_muscular_dystrophy Cardiomyopathy;Dystrophin deficiency;Duchenne muscular dystrophy;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_hypertrophic_23_with_or_without_ventricular_noncompaction Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_hypertrophic_27 Cardiomyopathy, familial hypertrophic 27 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_hypertrophic_28 Cardiomyopathy, familial hypertrophic, 28 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_hypertrophic_29_with_polyglucosan_bodies Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_hypertrophic_30_atrial Cardiomyopathy, familial hypertrophic, 30, atrial Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_hypertrophic_31 Cardiomyopathy, familial hypertrophic, 31 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_hypertrophic_4_susceptibility_to Cardiomyopathy, familial hypertrophic, 4, susceptibility to Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_1 Cardiomyopathy, familial restrictive, 1 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_1_dilated_cardiomyopathy_2a_dilated_cardiomyopathy_1ff_hypertrophic_cardiomyopathy_7 Cardiomyopathy, familial restrictive, 1;Dilated cardiomyopathy 2A;Dilated cardiomyopathy 1FF;Hypertrophic cardiomyopathy 7 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_1_dilated_cardiomyopathy_2a_hypertrophic_cardiomyopathy_7 Cardiomyopathy, familial restrictive, 1;Dilated cardiomyopathy 2A;Hypertrophic cardiomyopathy 7 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_1_hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_1ff Cardiomyopathy, familial restrictive, 1;Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 1FF Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_1_hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_1ff_dilated_cardiomyopathy_2a Cardiomyopathy, familial restrictive, 1;Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 1FF;Dilated cardiomyopathy 2A Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_1_hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_2a_dilated_cardiomyopathy_1ff Cardiomyopathy, familial restrictive, 1;Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 2A;Dilated cardiomyopathy 1FF Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_1_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Cardiomyopathy, familial restrictive, 1;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_1_mypn_related_myopathy_primary_familial_hypertrophic_cardiomyopathy_dilated_cardiomyopathy_1kk Cardiomyopathy, familial restrictive, 1;MYPN-related myopathy;Primary familial hypertrophic cardiomyopathy;Dilated cardiomyopathy 1KK Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_3 Cardiomyopathy, familial restrictive, 3 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_3_dilated_cardiomyopathy_1d_hypertrophic_cardiomyopathy_2 Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D;Hypertrophic cardiomyopathy 2 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_3_hypertrophic_cardiomyopathy_2_dilated_cardiomyopathy_1d Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_4 Cardiomyopathy, familial restrictive, 4 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_5 Cardiomyopathy, familial restrictive, 5 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_familial_restrictive_6 Cardiomyopathy, familial restrictive, 6 Supplemental_disease_name DISEASE_NAME:cardiomyopathy_fatal Cardiomyopathy, fatal Supplemental_disease_name DISEASE_NAME:cardiomyopathy_fatal_infantile Cardiomyopathy, fatal infantile Supplemental_disease_name DISEASE_NAME:cardiomyopathy_hypertrophic_cardiomyopathy Cardiomyopathy;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_hypertrophic_cardiomyopathy_atrial_fibrillation_ventricular_tachycardia Cardiomyopathy;Hypertrophic cardiomyopathy;Atrial fibrillation;Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:cardiomyopathy_hypertrophic_cardiomyopathy_restrictive_cardiomyopathy Cardiomyopathy;Hypertrophic cardiomyopathy;Restrictive cardiomyopathy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_hypertrophic_midventricular_digenic Cardiomyopathy, hypertrophic, midventricular, digenic Supplemental_disease_name DISEASE_NAME:cardiomyopathy_hypertrophic_mitochondrial CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL Supplemental_disease_name DISEASE_NAME:cardiomyopathy_hypotonia_lactic_acidosis_syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome Supplemental_disease_name DISEASE_NAME:cardiomyopathy_idiopathic_dilated_mitochondrial CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL Supplemental_disease_name DISEASE_NAME:cardiomyopathy_infantile_hypertrophic Cardiomyopathy, infantile hypertrophic Supplemental_disease_name DISEASE_NAME:cardiomyopathy_left_ventricular_noncompaction_floppy_infant Cardiomyopathy;Left ventricular noncompaction;Floppy infant Supplemental_disease_name DISEASE_NAME:cardiomyopathy_long_qt_syndrome Cardiomyopathy;Long QT syndrome Supplemental_disease_name DISEASE_NAME:cardiomyopathy_long_qt_syndrome_ventricular_tachycardia Cardiomyopathy;Long QT syndrome;Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:cardiomyopathy_mitochondrial Cardiomyopathy, mitochondrial Supplemental_disease_name DISEASE_NAME:cardiomyopathy_motor_delay_delayed_speech_and_language_development Cardiomyopathy;Motor delay;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:cardiomyopathy_premature_ventricular_contraction Cardiomyopathy;Premature ventricular contraction Supplemental_disease_name DISEASE_NAME:cardiomyopathy_primary_dilated_cardiomyopathy Cardiomyopathy;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_restrictive_cardiomyopathy Cardiomyopathy;Restrictive cardiomyopathy Supplemental_disease_name DISEASE_NAME:cardiomyopathy_supraventricular_tachycardia Cardiomyopathy;Supraventricular tachycardia Supplemental_disease_name DISEASE_NAME:cardiomyopathy_systolic_heart_failure Cardiomyopathy;Systolic heart failure Supplemental_disease_name DISEASE_NAME:cardiomyopathy_ventricular_fibrillation Cardiomyopathy;Ventricular fibrillation Supplemental_disease_name DISEASE_NAME:cardiorenal_syndrome_type_4 Cardiorenal syndrome type 4 Supplemental_disease_name DISEASE_NAME:cardiospondylocarpofacial_syndrome Cardiospondylocarpofacial syndrome Supplemental_disease_name DISEASE_NAME:cardiospondylocarpofacial_syndrome_frontometaphyseal_dysplasia_2 Cardiospondylocarpofacial syndrome;Frontometaphyseal dysplasia 2 Supplemental_disease_name DISEASE_NAME:cardiovascular Cardiovascular Supplemental_disease_name DISEASE_NAME:cardiovascular_heart_disease Cardiovascular/heart disease Supplemental_disease_name DISEASE_NAME:cardiovascular_phenotype Cardiovascular phenotype Supplemental_disease_name DISEASE_NAME:cardiovascular_phenotype_hereditary_cancer_predisposing_syndrome Cardiovascular phenotype;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:carmil2_related_disorder CARMIL2-related disorder Supplemental_disease_name DISEASE_NAME:carney_complex_trismus_pseudocamptodactyly_syndrome Carney complex - trismus - pseudocamptodactyly syndrome Supplemental_disease_name DISEASE_NAME:carney_complex_trismus_pseudocamptodactyly_syndrome_hecht_syndrome Carney complex - trismus - pseudocamptodactyly syndrome;Hecht syndrome Supplemental_disease_name DISEASE_NAME:carney_complex_type_1_acrodysostosis_1_with_or_without_hormone_resistance Carney complex, type 1;Acrodysostosis 1 with or without hormone resistance Supplemental_disease_name DISEASE_NAME:carney_complex_type_1_acrodysostosis_1_with_or_without_hormone_resistance_familial_atrial_myxoma_pigmented_nodular_adrenocortical_disease_primary_1 Carney complex, type 1;Acrodysostosis 1 with or without hormone resistance;Familial atrial myxoma;Pigmented nodular adrenocortical disease, primary, 1 Supplemental_disease_name DISEASE_NAME:carney_complex_type_1_acrodysostosis_1_with_or_without_hormone_resistance_pigmented_nodular_adrenocortical_disease_primary_1_familial_atrial_myxoma Carney complex, type 1;Acrodysostosis 1 with or without hormone resistance;Pigmented nodular adrenocortical disease, primary, 1;Familial atrial myxoma Supplemental_disease_name DISEASE_NAME:carney_complex_type_1_familial_atrial_myxoma_pigmented_nodular_adrenocortical_disease_primary_1_acrodysostosis_1_with_or_without_hormone_resistance Carney complex, type 1;Familial atrial myxoma;Pigmented nodular adrenocortical disease, primary, 1;Acrodysostosis 1 with or without hormone resistance Supplemental_disease_name DISEASE_NAME:carney_complex_type_1_pigmented_nodular_adrenocortical_disease_primary_1_acrodysostosis_1_with_or_without_hormone_resistance_familial_atrial_myxoma Carney complex, type 1;Pigmented nodular adrenocortical disease, primary, 1;Acrodysostosis 1 with or without hormone resistance;Familial atrial myxoma Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_cowden_syndrome_3_paragangliomas_with_sensorineural_hearing_loss_pheochromocytoma Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas with sensorineural hearing loss;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_cowden_syndrome_3_pheochromocytoma_paragangliomas_with_sensorineural_hearing_loss Carney-Stratakis syndrome;Cowden syndrome 3;Pheochromocytoma;Paragangliomas with sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_cowden_syndrome_3_pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_1 Carney-Stratakis syndrome;Cowden syndrome 3;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 1 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_gastrointestinal_stromal_tumor_pheochromocytoma_paraganglioma_syndrome_3 Carney-Stratakis syndrome;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_mitochondrial_complex_2_deficiency_nuclear_type_3_pheochromocytoma_paraganglioma_syndrome_1 Carney-Stratakis syndrome;Mitochondrial complex 2 deficiency, nuclear type 3;Pheochromocytoma/paraganglioma syndrome 1 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_paragangliomas_with_sensorineural_hearing_loss_cowden_syndrome_3_pheochromocytoma Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss;Cowden syndrome 3;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_paragangliomas_with_sensorineural_hearing_loss_pheochromocytoma_cowden_syndrome_3 Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss;Pheochromocytoma;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_cowden_syndrome_3_paragangliomas_with_sensorineural_hearing_loss Carney-Stratakis syndrome;Pheochromocytoma;Cowden syndrome 3;Paragangliomas with sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_cowden_syndrome_3_pheochromocytoma_paraganglioma_syndrome_1 Carney-Stratakis syndrome;Pheochromocytoma;Cowden syndrome 3;Pheochromocytoma/paraganglioma syndrome 1 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_1_mitochondrial_complex_2_deficiency_nuclear_type_3 Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 1;Mitochondrial complex 2 deficiency, nuclear type 3 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_1_pheochromocytoma_cowden_syndrome_3 Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 1;Pheochromocytoma;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_1_pheochromocytoma_mitochondrial_complex_ii_deficiency_nuclear_type_1 Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 1;Pheochromocytoma;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_3_gastrointestinal_stromal_tumor Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4_gastrointestinal_stromal_tumor_mitochondrial_complex_2_deficiency_nuclear_type_4 Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4_mitochondrial_complex_2_deficiency_nuclear_type_4_gastrointestinal_stromal_tumor Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Mitochondrial complex 2 deficiency, nuclear type 4;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4_mitochondrial_complex_2_deficiency_nuclear_type_4_gastrointestinal_stromal_tumor_pheochromocytoma Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Mitochondrial complex 2 deficiency, nuclear type 4;Gastrointestinal stromal tumor;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4_pheochromocytoma Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_paragangliomas_with_sensorineural_hearing_loss_cowden_syndrome_3 Carney-Stratakis syndrome;Pheochromocytoma;Paragangliomas with sensorineural hearing loss;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:carney_stratakis_syndrome_pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_1_cowden_syndrome_3 Carney-Stratakis syndrome;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 1;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:carney_triad Carney triad Supplemental_disease_name DISEASE_NAME:carnitine_deficiency Carnitine deficiency Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form Carnitine palmitoyl transferase II deficiency, myopathic form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, neonatal form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, neonatal form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form Carnitine palmitoyl transferase II deficiency, neonatal form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_encephalopathy_acute_infection_induced_susceptibility_to_4 Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Encephalopathy, acute, infection-induced, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_encephalopathy_acute_infection_induced_susceptibility_to_4 Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form Carnitine palmitoyl transferase II deficiency, neonatal form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, severe infantile form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form Carnitine palmitoyl transferase II deficiency, neonatal form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form Carnitine palmitoyl transferase II deficiency, severe infantile form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_encephalopathy_acute_infection_induced_susceptibility_to_4 Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form;Encephalopathy, acute, infection-induced, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, neonatal form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, neonatal form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, neonatal form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, myopathic form Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyltransferase_1a_deficiency Carnitine palmitoyltransferase 1A deficiency Supplemental_disease_name DISEASE_NAME:carnitine_palmitoyltransferase_2_deficiency Carnitine palmitoyltransferase 2 deficiency Supplemental_disease_name DISEASE_NAME:carotid_intimal_medial_thickness_1 CAROTID INTIMAL MEDIAL THICKNESS 1 Supplemental_disease_name DISEASE_NAME:carpal_osteolysis Carpal osteolysis Supplemental_disease_name DISEASE_NAME:carpal_tunnel_syndrome_1_amyloidosis_hereditary_systemic_1_hyperthyroxinemia_dystransthyretinemic Carpal tunnel syndrome 1;Amyloidosis, hereditary systemic 1;Hyperthyroxinemia, dystransthyretinemic Supplemental_disease_name DISEASE_NAME:carpal_tunnel_syndrome_1_hyperthyroxinemia_dystransthyretinemic_amyloidosis_hereditary_systemic_1 Carpal tunnel syndrome 1;Hyperthyroxinemia, dystransthyretinemic;Amyloidosis, hereditary systemic 1 Supplemental_disease_name DISEASE_NAME:carpal_tunnel_syndrome_2_multiple_epiphyseal_dysplasia_type_1_pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome Carpal tunnel syndrome 2;Multiple epiphyseal dysplasia type 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:cars1_related_disorder CARS1-related disorder Supplemental_disease_name DISEASE_NAME:cars2_related_disorder CARS2-related disorder Supplemental_disease_name DISEASE_NAME:cartilage_hair_hypoplasia_anauxetic_dysplasia_spectrum_disorders Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders Supplemental_disease_name DISEASE_NAME:cask_related_disorder CASK-related disorder Supplemental_disease_name DISEASE_NAME:cask_related_intellectual_disability_and_microcephaly_with_pontine_and_cerebellar_hypoplasia CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:cask_related_syndromic_intellectual_disability CASK-related syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:casp10_related_disorder CASP10-related disorder Supplemental_disease_name DISEASE_NAME:casp12_related_disorder CASP12-related disorder Supplemental_disease_name DISEASE_NAME:casp14_related_disorder CASP14-related disorder Supplemental_disease_name DISEASE_NAME:casp1_related_disorder CASP1-related disorder Supplemental_disease_name DISEASE_NAME:casp2_related_disorder CASP2-related disorder Supplemental_disease_name DISEASE_NAME:casp8_related_disorder CASP8-related disorder Supplemental_disease_name DISEASE_NAME:casp9_related_disorder CASP9-related disorder Supplemental_disease_name DISEASE_NAME:casq1_related_disorder CASQ1-related disorder Supplemental_disease_name DISEASE_NAME:casq2_related_disorder CASQ2-related disorder Supplemental_disease_name DISEASE_NAME:casr_related_calcium_metabolism_disorders CASR-related calcium metabolism disorders Supplemental_disease_name DISEASE_NAME:casr_related_disorder CASR-related disorder Supplemental_disease_name DISEASE_NAME:cast_related_disorder CAST-related disorder Supplemental_disease_name DISEASE_NAME:castleman_kojima_disease Castleman-Kojima disease Supplemental_disease_name DISEASE_NAME:castor3_related_condition CASTOR3-related condition Supplemental_disease_name DISEASE_NAME:castration_resistant_prostate_cancer Castration-resistant prostate cancer Supplemental_disease_name DISEASE_NAME:casz1_associated_cardiomyopathy CASZ1-associated cardiomyopathy Supplemental_disease_name DISEASE_NAME:casz1_related_dilated_cardiomyopathy CASZ1-related dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:casz1_related_disorder CASZ1-related disorder Supplemental_disease_name DISEASE_NAME:cat_eye_syndrome Cat eye syndrome Supplemental_disease_name DISEASE_NAME:cat_related_disorder CAT-related disorder Supplemental_disease_name DISEASE_NAME:cataplexy_and_narcolepsy Cataplexy and narcolepsy Supplemental_disease_name DISEASE_NAME:cataract_11_posterior_polar Cataract 11, posterior polar Supplemental_disease_name DISEASE_NAME:cataract_11_posterior_polar_with_microphthalmia_and_neurodevelopmental_abnormalities Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities Supplemental_disease_name DISEASE_NAME:cataract_13_with_adult_i_phenotype_blood_group_i_system Cataract 13 with adult I phenotype;Blood group, I system Supplemental_disease_name DISEASE_NAME:cataract_16_multiple_types_dilated_cardiomyopathy_1ii Cataract 16 multiple types;Dilated cardiomyopathy 1II Supplemental_disease_name DISEASE_NAME:cataract_16_multiple_types_dilated_cardiomyopathy_1ii_fatal_infantile_hypertonic_myofibrillar_myopathy_myofibrillar_myopathy_2 Cataract 16 multiple types;Dilated cardiomyopathy 1II;Fatal infantile hypertonic myofibrillar myopathy;Myofibrillar myopathy 2 Supplemental_disease_name DISEASE_NAME:cataract_16_multiple_types_myofibrillar_myopathy_2_dilated_cardiomyopathy_1ii_fatal_infantile_hypertonic_myofibrillar_myopathy Cataract 16 multiple types;Myofibrillar myopathy 2;Dilated cardiomyopathy 1II;Fatal infantile hypertonic myofibrillar myopathy Supplemental_disease_name DISEASE_NAME:cataract_16_multiple_types_myofibrillar_myopathy_2_fatal_infantile_hypertonic_myofibrillar_myopathy_dilated_cardiomyopathy_1ii Cataract 16 multiple types;Myofibrillar myopathy 2;Fatal infantile hypertonic myofibrillar myopathy;Dilated cardiomyopathy 1II Supplemental_disease_name DISEASE_NAME:cataract_17 Cataract 17 Supplemental_disease_name DISEASE_NAME:cataract_21_multiple_types_ayme_gripp_syndrome Cataract 21 multiple types;Ayme-Gripp syndrome Supplemental_disease_name DISEASE_NAME:cataract_2_coppock_like Cataract 2, Coppock-like Supplemental_disease_name DISEASE_NAME:cataract_30_multiple_types cataract 30 multiple types Supplemental_disease_name DISEASE_NAME:cataract_38_sengers_syndrome Cataract 38;Sengers syndrome Supplemental_disease_name DISEASE_NAME:cataract_40_nance_horan_syndrome Cataract 40;Nance-Horan syndrome Supplemental_disease_name DISEASE_NAME:cataract_41_autosomal_dominant_nonsyndromic_hearing_loss_6_wolfram_like_syndrome_type_2_diabetes_mellitus_wolfram_syndrome_1 Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Wolfram-like syndrome;Type 2 diabetes mellitus;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:cataract_41_wolfram_syndrome_1_wolfram_like_syndrome_autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus Cataract 41;Wolfram syndrome 1;Wolfram-like syndrome;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:cataract_44_alopecia_intellectual_disability_syndrome_4 Cataract 44;Alopecia-intellectual disability syndrome 4 Supplemental_disease_name DISEASE_NAME:cataract_44_hypotrichosis_14_alopecia_intellectual_disability_syndrome_4 Cataract 44;Hypotrichosis 14;Alopecia-intellectual disability syndrome 4 Supplemental_disease_name DISEASE_NAME:cataract_44_multiple_types cataract 44 multiple types Supplemental_disease_name DISEASE_NAME:cataract_49 Cataract 49 Supplemental_disease_name DISEASE_NAME:cataract_50_with_or_without_glaucoma Cataract 50 with or without glaucoma Supplemental_disease_name DISEASE_NAME:cataract_6_age_related_cortical Cataract 6, age-related cortical Supplemental_disease_name DISEASE_NAME:cataract_9_autosomal_recessive Cataract 9, autosomal recessive Supplemental_disease_name DISEASE_NAME:cataract_9_multiple_types_with_microcornea Cataract 9, multiple types, with microcornea Supplemental_disease_name DISEASE_NAME:cataract_alopecia_oral_mucosal_disorder_and_psoriasis_like_syndrome Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome Supplemental_disease_name DISEASE_NAME:cataract_glaucoma_syndrome Cataract-glaucoma syndrome Supplemental_disease_name DISEASE_NAME:cataract_growth_hormone_deficiency_sensory_neuropathy_sensorineural_hearing_loss_skeletal_dysplasia_syndrome Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:cataract_microcephaly_severe_global_developmental_delay Cataract;Microcephaly;Severe global developmental delay Supplemental_disease_name DISEASE_NAME:cataract_microcornea_syndrome Cataract - microcornea syndrome Supplemental_disease_name DISEASE_NAME:cataract_severe_global_developmental_delay_microcephaly Cataract;Severe global developmental delay;Microcephaly Supplemental_disease_name DISEASE_NAME:cataracts_congenital_with_late_onset_corneal_dystrophy Cataracts, congenital, with late-onset corneal dystrophy Supplemental_disease_name DISEASE_NAME:cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_1 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 Supplemental_disease_name DISEASE_NAME:cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_1_dyskeratosis_congenita_x_linked Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1;Dyskeratosis congenita, X-linked Supplemental_disease_name DISEASE_NAME:cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_2 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 Supplemental_disease_name DISEASE_NAME:cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_2_pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_9_dyskeratosis_congenita_autosomal_recessive_1 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9;Dyskeratosis congenita, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:cataracts_spastic_paraplegia_and_speech_delay CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY Supplemental_disease_name DISEASE_NAME:catecholaminergic_polymorphic_ventricular_tachycardia_1_arrhythmogenic_right_ventricular_dysplasia_2 Catecholaminergic polymorphic ventricular tachycardia 1;Arrhythmogenic right ventricular dysplasia 2 Supplemental_disease_name DISEASE_NAME:catecholaminergic_polymorphic_ventricular_tachycardia_1_arrhythmogenic_right_ventricular_dysplasia_2_ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome Catecholaminergic polymorphic ventricular tachycardia 1;Arrhythmogenic right ventricular dysplasia 2;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Supplemental_disease_name DISEASE_NAME:catecholaminergic_polymorphic_ventricular_tachycardia_1_catecholaminergic_polymorphic_ventricular_tachycardia_2 Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2 Supplemental_disease_name DISEASE_NAME:catecholaminergic_polymorphic_ventricular_tachycardia_1_catecholaminergic_polymorphic_ventricular_tachycardia_5 Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5 Supplemental_disease_name DISEASE_NAME:catecholaminergic_polymorphic_ventricular_tachycardia_1_ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Supplemental_disease_name DISEASE_NAME:catecholaminergic_polymorphic_ventricular_tachycardia_1_ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome_arrhythmogenic_right_ventricular_dysplasia_2 Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome;Arrhythmogenic right ventricular dysplasia 2 Supplemental_disease_name DISEASE_NAME:catecholaminergic_polymorphic_ventricular_tachycardia_2_catecholaminergic_polymorphic_ventricular_tachycardia_1 Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1 Supplemental_disease_name DISEASE_NAME:catecholaminergic_polymorphic_ventricular_tachycardia_4_long_qt_syndrome_14 Catecholaminergic polymorphic ventricular tachycardia 4;Long QT syndrome 14 Supplemental_disease_name DISEASE_NAME:catecholaminergic_polymorphic_ventricular_tachycardia_5_catecholaminergic_polymorphic_ventricular_tachycardia_1 Catecholaminergic polymorphic ventricular tachycardia 5;Catecholaminergic polymorphic ventricular tachycardia 1 Supplemental_disease_name DISEASE_NAME:cathepsin_a_related_arteriopathy_strokes_leukoencephalopathy_combined_deficiency_of_sialidase_and_beta_galactosidase Cathepsin a-related arteriopathy-strokes-leukoencephalopathy;Combined deficiency of sialidase AND beta galactosidase Supplemental_disease_name DISEASE_NAME:catifa_syndrome Catifa syndrome Supplemental_disease_name DISEASE_NAME:cationic_amino_acid_transporter_2_deficiency Cationic Amino Acid Transporter 2 Deficiency Supplemental_disease_name DISEASE_NAME:catsper1_related_disorder CATSPER1-related disorder Supplemental_disease_name DISEASE_NAME:catsper2_related_condition CATSPER2-related condition Supplemental_disease_name DISEASE_NAME:caudal_duplication Caudal duplication Supplemental_disease_name DISEASE_NAME:caudal_duplication_hepatocellular_carcinoma Caudal duplication;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:caused_by_mutation_in_the_tafazzin_gene Caused by mutation in the tafazzin gene Supplemental_disease_name DISEASE_NAME:caused_by_mutation_in_the_tbc1_domain_family_member_24_autosomal_dominant_nonsyndromic_hearing_loss_65_developmental_and_epileptic_encephalopathy_1 Caused by mutation in the TBC1 domain family, member 24;Autosomal dominant nonsyndromic hearing loss 65;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:caused_by_mutation_in_the_tbc1_domain_family_member_24_developmental_and_epileptic_encephalopathy_1_autosomal_dominant_nonsyndromic_hearing_loss_65 Caused by mutation in the TBC1 domain family, member 24;Developmental and epileptic encephalopathy, 1;Autosomal dominant nonsyndromic hearing loss 65 Supplemental_disease_name DISEASE_NAME:cav1_related_disorder CAV1-related disorder Supplemental_disease_name DISEASE_NAME:cav3_related_disorder CAV3-related disorder Supplemental_disease_name DISEASE_NAME:caveolinopathy Caveolinopathy Supplemental_disease_name DISEASE_NAME:cavernous_lymphangioma Cavernous lymphangioma Supplemental_disease_name DISEASE_NAME:cavernous_malformations_of_cns_and_retina Cavernous malformations of CNS and retina Supplemental_disease_name DISEASE_NAME:cavin1_related_disorder CAVIN1-related disorder Supplemental_disease_name DISEASE_NAME:cavin4_related_disorder CAVIN4-related disorder Supplemental_disease_name DISEASE_NAME:cbfb_related_disorder CBFB-related disorder Supplemental_disease_name DISEASE_NAME:cbl_related_disorder CBL-related disorder Supplemental_disease_name DISEASE_NAME:cbl_related_disorder_juvenile_myelomonocytic_leukemia CBL-related disorder;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:cblb_related_disorder CBLB-related disorder Supplemental_disease_name DISEASE_NAME:cblc_type_of_combined_methylmalonic_aciduria_and_homocystinuria cblC type of combined methylmalonic aciduria and homocystinuria Supplemental_disease_name DISEASE_NAME:cblif_related_disorder CBLIF-related disorder Supplemental_disease_name DISEASE_NAME:cbs_polymorphism CBS POLYMORPHISM Supplemental_disease_name DISEASE_NAME:cbs_related_disorder CBS-related disorder Supplemental_disease_name DISEASE_NAME:cbx2_related_disorder CBX2-related disorder Supplemental_disease_name DISEASE_NAME:cc2d1a_related_disorder CC2D1A-related disorder Supplemental_disease_name DISEASE_NAME:cc2d2a_related_disorder CC2D2A-related disorder Supplemental_disease_name DISEASE_NAME:ccar2_related_disorder CCAR2-related disorder Supplemental_disease_name DISEASE_NAME:ccbe1_related_disorder CCBE1-related disorder Supplemental_disease_name DISEASE_NAME:ccdc103_related_disorder CCDC103-related disorder Supplemental_disease_name DISEASE_NAME:ccdc115_related_disorder CCDC115-related disorder Supplemental_disease_name DISEASE_NAME:ccdc134_related_condition CCDC134-related condition Supplemental_disease_name DISEASE_NAME:ccdc141_related_disorder CCDC141-related disorder Supplemental_disease_name DISEASE_NAME:ccdc169_sohlh2_related_disorder CCDC169-SOHLH2-related disorder Supplemental_disease_name DISEASE_NAME:ccdc170_related_condition CCDC170-related condition Supplemental_disease_name DISEASE_NAME:ccdc174_related_disorder CCDC174-related disorder Supplemental_disease_name DISEASE_NAME:ccdc186_related_disorder CCDC186-related disorder Supplemental_disease_name DISEASE_NAME:ccdc18_related_disorder CCDC18-related disorder Supplemental_disease_name DISEASE_NAME:ccdc22_related_disorder CCDC22-related disorder Supplemental_disease_name DISEASE_NAME:ccdc28b_related_disorder CCDC28B-related disorder Supplemental_disease_name DISEASE_NAME:ccdc33_related_disorder CCDC33-related disorder Supplemental_disease_name DISEASE_NAME:ccdc39_related_disorder CCDC39-related disorder Supplemental_disease_name DISEASE_NAME:ccdc40_related_disorder CCDC40-related disorder Supplemental_disease_name DISEASE_NAME:ccdc47_related_disorder CCDC47-related disorder Supplemental_disease_name DISEASE_NAME:ccdc50_related_disorder CCDC50-related disorder Supplemental_disease_name DISEASE_NAME:ccdc65_related_disorder CCDC65-related disorder Supplemental_disease_name DISEASE_NAME:ccdc78_related_disorder CCDC78-related disorder Supplemental_disease_name DISEASE_NAME:ccdc82_related_disorder CCDC82-related disorder Supplemental_disease_name DISEASE_NAME:ccdc82_related_disorders CCDC82-Related Disorders Supplemental_disease_name DISEASE_NAME:ccdc88a_related_disorder CCDC88A-related disorder Supplemental_disease_name DISEASE_NAME:ccdc88c_related_disorder CCDC88C-related disorder Supplemental_disease_name DISEASE_NAME:ccdc8_related_disorder CCDC8-related disorder Supplemental_disease_name DISEASE_NAME:ccdc93_related_condition CCDC93-related condition Supplemental_disease_name DISEASE_NAME:ccl11_related_disorder CCL11-related disorder Supplemental_disease_name DISEASE_NAME:ccl2_related_disorder CCL2-related disorder Supplemental_disease_name DISEASE_NAME:ccl5_related_condition CCL5-related condition Supplemental_disease_name DISEASE_NAME:ccm2_related_disorder CCM2-related disorder Supplemental_disease_name DISEASE_NAME:ccn6_related_disorder CCN6-related disorder Supplemental_disease_name DISEASE_NAME:ccnd1_related_disorder CCND1-related disorder Supplemental_disease_name DISEASE_NAME:ccnd2_related_disorder CCND2-related disorder Supplemental_disease_name DISEASE_NAME:ccnf_related_disorder CCNF-related disorder Supplemental_disease_name DISEASE_NAME:ccnk_related_disorder CCNK-related disorder Supplemental_disease_name DISEASE_NAME:ccnl2_related_disorder CCNL2-related disorder Supplemental_disease_name DISEASE_NAME:ccno_related_disorder CCNO-related disorder Supplemental_disease_name DISEASE_NAME:ccnp_related_disorder CCNP-related disorder Supplemental_disease_name DISEASE_NAME:ccnq_related_disorder CCNQ-related disorder Supplemental_disease_name DISEASE_NAME:ccr2_related_disorder CCR2-related disorder Supplemental_disease_name DISEASE_NAME:ccr5_polymorphism_african_american CCR5 POLYMORPHISM, AFRICAN-AMERICAN Supplemental_disease_name DISEASE_NAME:ccr5_polymorphism_oriental_1 CCR5 POLYMORPHISM, ORIENTAL 1 Supplemental_disease_name DISEASE_NAME:ccr5_polymorphism_oriental_2 CCR5 POLYMORPHISM, ORIENTAL 2 Supplemental_disease_name DISEASE_NAME:ccr5_promoter_polymorphism CCR5 PROMOTER POLYMORPHISM Supplemental_disease_name DISEASE_NAME:ccr5_related_disorder CCR5-related disorder Supplemental_disease_name DISEASE_NAME:ccs_related_disorder CCS-related disorder Supplemental_disease_name DISEASE_NAME:cct4_related_disorder CCT4-related disorder Supplemental_disease_name DISEASE_NAME:cct5_related_disorder CCT5-related disorder Supplemental_disease_name DISEASE_NAME:cct6a_associated_neurodevelopmental_disorder CCT6A-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cd101_related_disorder CD101-related disorder Supplemental_disease_name DISEASE_NAME:cd14_related_disorder CD14-related disorder Supplemental_disease_name DISEASE_NAME:cd151_related_disorder CD151-related disorder Supplemental_disease_name DISEASE_NAME:cd164_related_disorder CD164-related disorder Supplemental_disease_name DISEASE_NAME:cd19_related_disorder CD19-related disorder Supplemental_disease_name DISEASE_NAME:cd207_related_disorder CD207-related disorder Supplemental_disease_name DISEASE_NAME:cd209_related_disorder CD209-related disorder Supplemental_disease_name DISEASE_NAME:cd244_related_disorder CD244-related disorder Supplemental_disease_name DISEASE_NAME:cd247_related_disorder CD247-related disorder Supplemental_disease_name DISEASE_NAME:cd27_related_disorder CD27-related disorder Supplemental_disease_name DISEASE_NAME:cd2ap_related_disorder CD2AP-related disorder Supplemental_disease_name DISEASE_NAME:cd320_related_disorder CD320-related disorder Supplemental_disease_name DISEASE_NAME:cd33_related_disorder CD33-related disorder Supplemental_disease_name DISEASE_NAME:cd36_related_disorder CD36-related disorder Supplemental_disease_name DISEASE_NAME:cd3d_related_disorder CD3D-related disorder Supplemental_disease_name DISEASE_NAME:cd3e_related_disorder CD3E-related disorder Supplemental_disease_name DISEASE_NAME:cd3g_related_disorder CD3G-related disorder Supplemental_disease_name DISEASE_NAME:cd40_related_disorder CD40-related disorder Supplemental_disease_name DISEASE_NAME:cd40lg_related_disorder CD40LG-related disorder Supplemental_disease_name DISEASE_NAME:cd44_related_disorder CD44-related disorder Supplemental_disease_name DISEASE_NAME:cd46_related_atypical_hemolytic_uremic_syndrome CD46-related atypical hemolytic uremic syndrome Supplemental_disease_name DISEASE_NAME:cd46_related_disorder CD46-related disorder Supplemental_disease_name DISEASE_NAME:cd4_related_disorder CD4-related disorder Supplemental_disease_name DISEASE_NAME:cd52_related_disorder CD52-related disorder Supplemental_disease_name DISEASE_NAME:cd55_related_disorder CD55-related disorder Supplemental_disease_name DISEASE_NAME:cd59_mediated_hemolytic_anemia CD59-mediated hemolytic anemia Supplemental_disease_name DISEASE_NAME:cd59_related_disorder CD59-related disorder Supplemental_disease_name DISEASE_NAME:cd6_related_disorder CD6-related disorder Supplemental_disease_name DISEASE_NAME:cd70_related_disorder CD70-related disorder Supplemental_disease_name DISEASE_NAME:cd79a_related_disorder CD79A-related disorder Supplemental_disease_name DISEASE_NAME:cd79b_related_disorder CD79B-related disorder Supplemental_disease_name DISEASE_NAME:cd81_related_disorder CD81-related disorder Supplemental_disease_name DISEASE_NAME:cd8_deficiency Cd8 deficiency Supplemental_disease_name DISEASE_NAME:cd8a_related_disorder CD8A-related disorder Supplemental_disease_name DISEASE_NAME:cd93_related_disorder CD93-related disorder Supplemental_disease_name DISEASE_NAME:cd96_related_disorder CD96-related disorder Supplemental_disease_name DISEASE_NAME:cd99_positive_neoplastic_cells_present CD99 Positive Neoplastic Cells Present Supplemental_disease_name DISEASE_NAME:cdan1_related_disorder CDAN1-related disorder Supplemental_disease_name DISEASE_NAME:cdc14a_related_disorder CDC14A-related disorder Supplemental_disease_name DISEASE_NAME:cdc42_associated_inflammatory_disease CDC42-associated inflammatory disease Supplemental_disease_name DISEASE_NAME:cdc42_related_disorder CDC42-related disorder Supplemental_disease_name DISEASE_NAME:cdc42bpb_related_disorder CDC42BPB-related disorder Supplemental_disease_name DISEASE_NAME:cdc42bpb_related_neurodevelopmental_disorder CDC42BPB-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cdc42bpb_related_neurodevelopmental_syndrome CDC42BPB-related neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:cdc42ep3_related_condition CDC42EP3-related condition Supplemental_disease_name DISEASE_NAME:cdc45_related_disorder CDC45-related disorder Supplemental_disease_name DISEASE_NAME:cdc5l_related_disorder CDC5L-related disorder Supplemental_disease_name DISEASE_NAME:cdc6_related_disorder CDC6-related disorder Supplemental_disease_name DISEASE_NAME:cdc73_related_disorder CDC73-related disorder Supplemental_disease_name DISEASE_NAME:cdca7_related_disorder CDCA7-related disorder Supplemental_disease_name DISEASE_NAME:cdca8_related_condition CDCA8-related condition Supplemental_disease_name DISEASE_NAME:cdh10_related_condition CDH10-related condition Supplemental_disease_name DISEASE_NAME:cdh11_related_disorder CDH11-related disorder Supplemental_disease_name DISEASE_NAME:cdh13_related_disorder CDH13-related disorder Supplemental_disease_name DISEASE_NAME:cdh15_related_disorder CDH15-related disorder Supplemental_disease_name DISEASE_NAME:cdh18_related_disorder CDH18-related disorder Supplemental_disease_name DISEASE_NAME:cdh19_related_disorder CDH19-related disorder Supplemental_disease_name DISEASE_NAME:cdh1_related_diffuse_gastric_and_lobular_breast_cancer_syndrome CDH1-related diffuse gastric and lobular breast cancer syndrome Supplemental_disease_name DISEASE_NAME:cdh1_related_disorder CDH1-related disorder Supplemental_disease_name DISEASE_NAME:cdh23_related_disorder CDH23-related disorder Supplemental_disease_name DISEASE_NAME:cdh2_related_disorder CDH2-related disorder Supplemental_disease_name DISEASE_NAME:cdh3_related_disorder CDH3-related disorder Supplemental_disease_name DISEASE_NAME:cdh4_associated_disorder_of_corticaldevelopment CDH4-associated disorder of corticaldevelopment Supplemental_disease_name DISEASE_NAME:cdh4_related_disorder CDH4-related disorder Supplemental_disease_name DISEASE_NAME:cdh5_related_condition CDH5-related condition Supplemental_disease_name DISEASE_NAME:cdhr1_related_disorder CDHR1-related disorder Supplemental_disease_name DISEASE_NAME:cdin1_related_disorder CDIN1-related disorder Supplemental_disease_name DISEASE_NAME:cdk10_related_disorder CDK10-related disorder Supplemental_disease_name DISEASE_NAME:cdk12_related_disorder CDK12-related disorder Supplemental_disease_name DISEASE_NAME:cdk16_related_disorder CDK16-related disorder Supplemental_disease_name DISEASE_NAME:cdk16_related_intellectual_disability CDK16-related Intellectual Disability Supplemental_disease_name DISEASE_NAME:cdk19_related_disorder CDK19-related disorder Supplemental_disease_name DISEASE_NAME:cdk20_related_disorder CDK20-related disorder Supplemental_disease_name DISEASE_NAME:cdk4_related_disorder CDK4-related disorder Supplemental_disease_name DISEASE_NAME:cdk5_related_disorder CDK5-related disorder Supplemental_disease_name DISEASE_NAME:cdk5r1_related_disorder CDK5R1-related disorder Supplemental_disease_name DISEASE_NAME:cdk5rap2_related_disorder CDK5RAP2-related disorder Supplemental_disease_name DISEASE_NAME:cdk6_related_disorder CDK6-related disorder Supplemental_disease_name DISEASE_NAME:cdk8_kinase_module_associated_disorder CDK8-kinase module-associated disorder Supplemental_disease_name DISEASE_NAME:cdk8_related_disorder CDK8-related disorder Supplemental_disease_name DISEASE_NAME:cdk9_related_disorder CDK9-related disorder Supplemental_disease_name DISEASE_NAME:cdkl2_related_condition CDKL2-related condition Supplemental_disease_name DISEASE_NAME:cdkl2_related_disorder CDKL2-related disorder Supplemental_disease_name DISEASE_NAME:cdkl5_disorder CDKL5 disorder Supplemental_disease_name DISEASE_NAME:cdkl5_related_disorder CDKL5-related disorder Supplemental_disease_name DISEASE_NAME:cdkn1b_related_disorder CDKN1B-related disorder Supplemental_disease_name DISEASE_NAME:cdkn1c_related_disorder CDKN1C-related disorder Supplemental_disease_name DISEASE_NAME:cdkn2a_related_disorder CDKN2A-related disorder Supplemental_disease_name DISEASE_NAME:cdo1_related_disorder CDO1-related disorder Supplemental_disease_name DISEASE_NAME:cdon_related_disorder CDON-related disorder Supplemental_disease_name DISEASE_NAME:cds1_related_disorder CDS1-related disorder Supplemental_disease_name DISEASE_NAME:cdsn_related_disorder CDSN-related disorder Supplemental_disease_name DISEASE_NAME:cdt1_related_disorder CDT1-related disorder Supplemental_disease_name DISEASE_NAME:cdx1_related_disorder CDX1-related disorder Supplemental_disease_name DISEASE_NAME:cdx4_related_disorder CDX4-related disorder Supplemental_disease_name DISEASE_NAME:ceacam16_related_disorder CEACAM16-related disorder Supplemental_disease_name DISEASE_NAME:cebalid_syndrome CEBALID syndrome Supplemental_disease_name DISEASE_NAME:cebpa_related_disorder CEBPA-related disorder Supplemental_disease_name DISEASE_NAME:cebpe_related_disorder CEBPE-related disorder Supplemental_disease_name DISEASE_NAME:cecr2_related_neurodevelopmental_disorder CECR2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cel_related_disorder CEL-related disorder Supplemental_disease_name DISEASE_NAME:cela2a_related_disorder CELA2A-related disorder Supplemental_disease_name DISEASE_NAME:celf2_related_disorder CELF2-related disorder Supplemental_disease_name DISEASE_NAME:celf4_related_disorder CELF4-related disorder Supplemental_disease_name DISEASE_NAME:celf6_related_disorder CELF6-related disorder Supplemental_disease_name DISEASE_NAME:celiac_disease_susceptibility_to_3_autoimmune_lymphoproliferative_syndrome_due_to_ctla4_haploinsufficiency_type_1_diabetes_mellitus_12_hashimoto_thyroiditis_systemic_lupus_erythematosus Celiac disease, susceptibility to, 3;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency;Type 1 diabetes mellitus 12;Hashimoto thyroiditis;Systemic lupus erythematosus Supplemental_disease_name DISEASE_NAME:celiac_disease_susceptibility_to_3_type_1_diabetes_mellitus_12_autoimmune_lymphoproliferative_syndrome_due_to_ctla4_haploinsufficiency_hashimoto_thyroiditis_systemic_lupus_erythematosus Celiac disease, susceptibility to, 3;Type 1 diabetes mellitus 12;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency;Hashimoto thyroiditis;Systemic lupus erythematosus Supplemental_disease_name DISEASE_NAME:celiac_disease_susceptibility_to_4 Celiac disease, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:celsr1_associated_congenital_heartdefects CELSR1-associated congenital heartdefects Supplemental_disease_name DISEASE_NAME:celsr1_related_disorder CELSR1-related disorder Supplemental_disease_name DISEASE_NAME:celsr2_related_disorder CELSR2-related disorder Supplemental_disease_name DISEASE_NAME:celsr3_related_disorder CELSR3-related disorder Supplemental_disease_name DISEASE_NAME:cemip_related_disorder CEMIP-related disorder Supplemental_disease_name DISEASE_NAME:cenani_lenz_syndactyly_syndrome_congenital_myasthenic_syndrome_17_sclerosteosis_2 Cenani-Lenz syndactyly syndrome;Congenital myasthenic syndrome 17;Sclerosteosis 2 Supplemental_disease_name DISEASE_NAME:cenani_lenz_syndactyly_syndrome_sclerosteosis_2_congenital_myasthenic_syndrome_17 Cenani-Lenz syndactyly syndrome;Sclerosteosis 2;Congenital myasthenic syndrome 17 Supplemental_disease_name DISEASE_NAME:cenpe_related_disorder CENPE-related disorder Supplemental_disease_name DISEASE_NAME:cenpf_related_disorder CENPF-related disorder Supplemental_disease_name DISEASE_NAME:cenpj_related_disorder CENPJ-related disorder Supplemental_disease_name DISEASE_NAME:cenpp_related_disorder CENPP-related disorder Supplemental_disease_name DISEASE_NAME:cenpt_related_disorder CENPT-related disorder Supplemental_disease_name DISEASE_NAME:central_areolar_choroidal_dystrophy Central areolar choroidal dystrophy Supplemental_disease_name DISEASE_NAME:central_centrifugal_cicatricial_alopecia Central centrifugal cicatricial alopecia Supplemental_disease_name DISEASE_NAME:central_core_disease_autosomal_recessive Central core disease, autosomal recessive Supplemental_disease_name DISEASE_NAME:central_core_myopathy_autosomal_dominant_centronuclear_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Autosomal dominant centronuclear myopathy;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1 Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome Central core myopathy;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Congenital myopathy with fiber type disproportion;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome Central core myopathy;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_king_denborough_syndrome Central core myopathy;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:central_core_myopathy_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion Central core myopathy;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:central_core_myopathy_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion Central core myopathy;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:central_core_myopathy_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1 Central core myopathy;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_multiminicore_myopathy Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Multiminicore myopathy Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion Central core myopathy;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia Central core myopathy;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:central_hypoventilation_syndrome_congenital_1_with_or_without_hirschsprung_disease Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Supplemental_disease_name DISEASE_NAME:central_hypoventilation_syndrome_congenital_1_with_or_without_hirschsprung_disease_neuroblastoma_susceptibility_to_2 Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease;Neuroblastoma, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:central_hypoventilation_syndrome_congenital_2_and_autonomic_dysfunction Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction Supplemental_disease_name DISEASE_NAME:central_hypoventilation_syndrome_congenital_3 Central hypoventilation syndrome, congenital, 3 Supplemental_disease_name DISEASE_NAME:central_hypoventilation_syndrome_late_onset Central hypoventilation syndrome, late-onset Supplemental_disease_name DISEASE_NAME:central_precocious_puberty_1_hypogonadotropic_hypogonadism_8_with_or_without_anosmia Central precocious puberty 1;Hypogonadotropic hypogonadism 8 with or without anosmia Supplemental_disease_name DISEASE_NAME:centromeric_instability_of_chromosomes_1_9_and_16_and_immunodeficiency Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Supplemental_disease_name DISEASE_NAME:centronuclear_myopathy_multiminicore_myopathy_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1 Centronuclear myopathy;Multiminicore myopathy;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:cep104_related_disorder CEP104-related disorder Supplemental_disease_name DISEASE_NAME:cep112_related_disorder CEP112-related disorder Supplemental_disease_name DISEASE_NAME:cep120_related_disorder CEP120-related disorder Supplemental_disease_name DISEASE_NAME:cep135_related_disorder CEP135-related disorder Supplemental_disease_name DISEASE_NAME:cep152_related_disorder CEP152-related disorder Supplemental_disease_name DISEASE_NAME:cep164_related_disorder CEP164-related disorder Supplemental_disease_name DISEASE_NAME:cep170b_related_disorder CEP170B-related disorder Supplemental_disease_name DISEASE_NAME:cep19_related_disorder CEP19-related disorder Supplemental_disease_name DISEASE_NAME:cep20_related_disorder CEP20-related disorder Supplemental_disease_name DISEASE_NAME:cep250_related_disorder CEP250-related disorder Supplemental_disease_name DISEASE_NAME:cep290_related_ciliopathies CEP290-related ciliopathies Supplemental_disease_name DISEASE_NAME:cep290_related_ciliopathy CEP290-related ciliopathy Supplemental_disease_name DISEASE_NAME:cep290_related_disorder CEP290-related disorder Supplemental_disease_name DISEASE_NAME:cep295_related_condition CEP295-related condition Supplemental_disease_name DISEASE_NAME:cep41_related_disorder CEP41-related disorder Supplemental_disease_name DISEASE_NAME:cep55_related_disorder CEP55-related disorder Supplemental_disease_name DISEASE_NAME:cep57_related_disorder CEP57-related disorder Supplemental_disease_name DISEASE_NAME:cep63_related_disorder CEP63-related disorder Supplemental_disease_name DISEASE_NAME:cep76_related_disorder CEP76-related disorder Supplemental_disease_name DISEASE_NAME:cep78_related_disorder CEP78-related disorder Supplemental_disease_name DISEASE_NAME:cep83_related_disorder CEP83-related disorder Supplemental_disease_name DISEASE_NAME:cep85l_related_disorder CEP85L-related disorder Supplemental_disease_name DISEASE_NAME:cep89_related_disorder CEP89-related disorder Supplemental_disease_name DISEASE_NAME:cephalocele Cephalocele Supplemental_disease_name DISEASE_NAME:cephalocele_joubert_syndrome_33 Cephalocele;Joubert syndrome 33 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_abnormal_basal_ganglia_mri_signal_intensity_progressive_spastic_paraparesis_gonadal_dysgenesis Cerebellar ataxia;Abnormal basal ganglia MRI signal intensity;Progressive spastic paraparesis;Gonadal dysgenesis Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_abnormal_facial_shape_coats_disease_dystonic_disorder Cerebellar ataxia;Abnormal facial shape;Coats disease;Dystonic disorder Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_alternating_hemiplegia_of_childhood_2_dystonia_12 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Alternating hemiplegia of childhood 2;Dystonia 12 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_alternating_hemiplegia_of_childhood_2_dystonia_12_developmental_and_epileptic_encephalopathy_99 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Alternating hemiplegia of childhood 2;Dystonia 12;Developmental and epileptic encephalopathy 99 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_developmental_and_epileptic_encephalopathy_99_dystonia_12_alternating_hemiplegia_of_childhood_2 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Developmental and epileptic encephalopathy 99;Dystonia 12;Alternating hemiplegia of childhood 2 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_dystonia_12_alternating_hemiplegia_of_childhood_2 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Dystonia 12;Alternating hemiplegia of childhood 2 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_dystonia_12_alternating_hemiplegia_of_childhood_2_developmental_and_epileptic_encephalopathy_99 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Dystonia 12;Alternating hemiplegia of childhood 2;Developmental and epileptic encephalopathy 99 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_dystonia_12_developmental_and_epileptic_encephalopathy_99_alternating_hemiplegia_of_childhood_2 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Dystonia 12;Developmental and epileptic encephalopathy 99;Alternating hemiplegia of childhood 2 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_brain_abnormalities_and_cardiac_conduction_defects Cerebellar ataxia, brain abnormalities, and cardiac conduction defects Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_cataract_and_diabetes_mellitus Cerebellar ataxia, cataract, and diabetes mellitus Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_dystonic_disorder_global_developmental_delay Cerebellar ataxia;Dystonic disorder;Global developmental delay Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_global_developmental_delay Cerebellar ataxia;Global developmental delay Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_global_developmental_delay_developmental_regression_microcephaly_congenital_cerebellar_hypoplasia Cerebellar ataxia;Global developmental delay;Developmental regression;Microcephaly;Congenital cerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_global_developmental_delay_hearing_impairment Cerebellar ataxia;Global developmental delay;Hearing impairment Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_global_developmental_delay_myoclonus_microcephaly_seizure Cerebellar ataxia;Global developmental delay;Myoclonus;Microcephaly;Seizure Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_impaired_intellectual_development_and_dysquilibrium_syndrome_2 Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_intellectual_disability Cerebellar ataxia;Intellectual disability Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_intellectual_disability_and_dysequilibrium_syndrome_1 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_intellectual_disability_and_dysequilibrium_syndrome_2 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_intellectual_disability_and_dysequilibrium_syndrome_2_hydrocephalus_congenital_3_with_brain_anomalies Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2;Hydrocephalus, congenital, 3, with brain anomalies Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_intellectual_disability_and_dysequilibrium_syndrome_3 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_intellectual_disability_and_dysequilibrium_syndrome_4 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_intellectual_disability_autistic_behavior_global_developmental_delay Cerebellar ataxia;Intellectual disability;Autistic behavior;Global developmental delay Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_intellectual_disability_cerebellar_atrophy Cerebellar ataxia;Intellectual disability;Cerebellar atrophy Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_microcephaly_tremor Cerebellar ataxia;Microcephaly;Tremor Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_mild_global_developmental_delay Cerebellar ataxia;Mild global developmental delay Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_peripheral_neuropathy Cerebellar ataxia;Peripheral neuropathy Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_seizure Cerebellar ataxia;Seizure Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_spastic_gait_cns_demyelination_bipolar_affective_disorder Cerebellar ataxia;Spastic gait;CNS demyelination;Bipolar affective disorder Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_tremor_moderate_global_developmental_delay Cerebellar ataxia;Tremor;Moderate global developmental delay Supplemental_disease_name DISEASE_NAME:cerebellar_ataxia_with_neuropathy_and_bilateral_vestibular_areflexia_syndrome Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Supplemental_disease_name DISEASE_NAME:cerebellar_atrophy_developmental_delay_and_seizures_epilepsy_idiopathic_generalized_susceptibility_to_16_generalized_epilepsy_paroxysmal_dyskinesia_syndrome Cerebellar atrophy, developmental delay, and seizures;Epilepsy, idiopathic generalized, susceptibility to, 16;Generalized epilepsy-paroxysmal dyskinesia syndrome Supplemental_disease_name DISEASE_NAME:cerebellar_atrophy_developmental_delay_and_seizures_generalized_epilepsy_paroxysmal_dyskinesia_syndrome_epilepsy_idiopathic_generalized_susceptibility_to_16_liang_wang_syndrome Cerebellar atrophy, developmental delay, and seizures;Generalized epilepsy-paroxysmal dyskinesia syndrome;Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome Supplemental_disease_name DISEASE_NAME:cerebellar_atrophy_developmental_delay_and_seizures_generalized_epilepsy_paroxysmal_dyskinesia_syndrome_liang_wang_syndrome Cerebellar atrophy, developmental delay, and seizures;Generalized epilepsy-paroxysmal dyskinesia syndrome;Liang-Wang syndrome Supplemental_disease_name DISEASE_NAME:cerebellar_atrophy_developmental_delay_and_seizures_liang_wang_syndrome_generalized_epilepsy_paroxysmal_dyskinesia_syndrome_epilepsy_idiopathic_generalized_susceptibility_to_16 Cerebellar atrophy, developmental delay, and seizures;Liang-Wang syndrome;Generalized epilepsy-paroxysmal dyskinesia syndrome;Epilepsy, idiopathic generalized, susceptibility to, 16 Supplemental_disease_name DISEASE_NAME:cerebellar_atrophy_global_developmental_delay Cerebellar atrophy;Global developmental delay Supplemental_disease_name DISEASE_NAME:cerebellar_atrophy_tremor_rod_cone_dystrophy_cerebellar_ataxia Cerebellar atrophy;Tremor;Rod-cone dystrophy;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:cerebellar_cortical_atrophy_dystonic_disorder_seizure_global_developmental_delay_nystagmus Cerebellar cortical atrophy;Dystonic disorder;Seizure;Global developmental delay;Nystagmus Supplemental_disease_name DISEASE_NAME:cerebellar_cyst Cerebellar cyst Supplemental_disease_name DISEASE_NAME:cerebellar_dysfunction_impaired_intellectual_development_and_hypogonadotropic_hypogonadism Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:cerebellar_dysfunction_impaired_intellectual_development_and_hypogonadotropic_hypogonadism_pontocerebellar_hypoplasia_iia_17 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism;Pontocerebellar hypoplasia, IIA 17 Supplemental_disease_name DISEASE_NAME:cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities Cerebellar dysfunction with variable cognitive and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:cerebellar_hemangioblastoma_pancreatic_cysts_retinal_capillary_hemangioma_spinal_hemangioblastoma Cerebellar hemangioblastoma;Pancreatic cysts;Retinal capillary hemangioma;Spinal hemangioblastoma Supplemental_disease_name DISEASE_NAME:cerebellar_hypoplasia_intellectual_disability_congenital_microcephaly_dystonia_anemia_growth_retardation_syndrome Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Supplemental_disease_name DISEASE_NAME:cerebellar_ocular_craniofacial_and_genital_syndrome Cerebellar, ocular, craniofacial, and genital syndrome Supplemental_disease_name DISEASE_NAME:cerebellar_vermis_hypoplasia Cerebellar vermis hypoplasia Supplemental_disease_name DISEASE_NAME:cerebellar_vermis_hypoplasia_corpus_callosum_agenesis_of Cerebellar vermis hypoplasia;Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:cerebellar_vermis_hypoplasia_corpus_callosum_agenesis_of_dias_logan_syndrome Cerebellar vermis hypoplasia;Corpus callosum, agenesis of;Dias-Logan syndrome Supplemental_disease_name DISEASE_NAME:cerebellar_vermis_hypoplasia_intellectual_disability_severe_speech_delay_mild_dysmorphism_syndrome Cerebellar vermis hypoplasia;Intellectual disability-severe speech delay-mild dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:cerebellar_vermis_hypoplasia_lissencephaly_due_to_tuba1a_mutation_corpus_callosum_agenesis_of Cerebellar vermis hypoplasia;Lissencephaly due to TUBA1A mutation;Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:cerebello_oculo_renal_syndrome_nephronophthisis_oculomotor_apraxia_and_cerebellar_abnormalities_infertility_disorder Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities);Infertility disorder Supplemental_disease_name DISEASE_NAME:cerebral_amyloid_angiopathy_app_related Cerebral amyloid angiopathy, APP-related Supplemental_disease_name DISEASE_NAME:cerebral_amyloid_angiopathy_app_related_alzheimer_disease_type_1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 Supplemental_disease_name DISEASE_NAME:cerebral_amyloid_angiopathy_app_related_piedmont_variant CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT Supplemental_disease_name DISEASE_NAME:cerebral_amyloid_angiopathy_prnp_related CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy Cerebral arteriopathy Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1_lateral_meningocele_syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Lateral meningocele syndrome Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1_lateral_meningocele_syndrome_myofibromatosis_infantile_2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Lateral meningocele syndrome;Myofibromatosis, infantile, 2 Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1_lateral_meningocele_syndrome_sneddon_syndrome_myofibromatosis_infantile_2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Lateral meningocele syndrome;Sneddon syndrome;Myofibromatosis, infantile, 2 Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1_myofibromatosis_infantile_2_lateral_meningocele_syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Myofibromatosis, infantile, 2;Lateral meningocele syndrome Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_2_carasil_syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2;CARASIL syndrome Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_autosomal_recessive_with_subcortical_infarcts_and_leukoencephalopathy_1 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Supplemental_disease_name DISEASE_NAME:cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy_2 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 Supplemental_disease_name DISEASE_NAME:cerebral_arteriovenous_malformation_arteriovenous_malformation_hand_tremor_tremor Cerebral arteriovenous malformation;Arteriovenous malformation;Hand tremor;Tremor Supplemental_disease_name DISEASE_NAME:cerebral_atrophy Cerebral atrophy Supplemental_disease_name DISEASE_NAME:cerebral_calcification Cerebral calcification Supplemental_disease_name DISEASE_NAME:cerebral_calcification_primary_microcephaly_global_developmental_delay Cerebral calcification;Primary microcephaly;Global developmental delay Supplemental_disease_name DISEASE_NAME:cerebral_calcification_vascular_dilatation_cirrhosis_of_liver_interstitial_pneumonitis Cerebral calcification;Vascular dilatation;Cirrhosis of liver;Interstitial pneumonitis Supplemental_disease_name DISEASE_NAME:cerebral_cavernous_angioma_subcutaneous_venous_lacunae Cerebral cavernous angioma;Subcutaneous venous lacunae Supplemental_disease_name DISEASE_NAME:cerebral_cavernous_malformation_4 Cerebral cavernous malformation 4 Supplemental_disease_name DISEASE_NAME:cerebral_cavernous_malformations_4_somatic CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Supplemental_disease_name DISEASE_NAME:cerebral_cavernous_malformations_5 Cerebral cavernous malformations 5 Supplemental_disease_name DISEASE_NAME:cerebral_cavernous_malformations_5_somatic CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC Supplemental_disease_name DISEASE_NAME:cerebral_edema Cerebral edema Supplemental_disease_name DISEASE_NAME:cerebral_folate_transport_deficiency Cerebral folate transport deficiency Supplemental_disease_name DISEASE_NAME:cerebral_hypomyelination Cerebral hypomyelination Supplemental_disease_name DISEASE_NAME:cerebral_hypoplasia_global_developmental_delay Cerebral hypoplasia;Global developmental delay Supplemental_disease_name DISEASE_NAME:cerebral_ischemia_fetal_akinesia_deformation_sequence_1_neonatal_death Cerebral ischemia;Fetal akinesia deformation sequence 1;Neonatal death Supplemental_disease_name DISEASE_NAME:cerebral_ischemia_moderate_global_developmental_delay_pachygyria_hypotonia Cerebral ischemia;Moderate global developmental delay;Pachygyria;Hypotonia Supplemental_disease_name DISEASE_NAME:cerebral_palsy_spastic_quadriplegic_2 Cerebral palsy, spastic quadriplegic, 2 Supplemental_disease_name DISEASE_NAME:cerebral_palsy_spastic_quadriplegic_3 Cerebral palsy, spastic quadriplegic, 3 Supplemental_disease_name DISEASE_NAME:cerebral_small_vessel_disease_vascular_parkinsonism_cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy Cerebral small vessel disease;Vascular parkinsonism;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Supplemental_disease_name DISEASE_NAME:cerebral_visual_impairment_and_intellectual_disability Cerebral visual impairment and intellectual disability Supplemental_disease_name DISEASE_NAME:cerebro_oculo_facio_skeletal_syndrome Cerebro-oculo-facio-skeletal syndrome Supplemental_disease_name DISEASE_NAME:cerebrofacial_arteriovenous_metameric_syndrome Cerebrofacial arteriovenous metameric syndrome Supplemental_disease_name DISEASE_NAME:cerebrofacial_vascular_metameric_syndrome_cvms Cerebrofacial Vascular Metameric Syndrome (CVMS) Supplemental_disease_name DISEASE_NAME:cerebrooculofacioskeletal_syndrome_1_cockayne_syndrome_type_2_de_sanctis_cacchione_syndrome Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2;DE SANCTIS-CACCHIONE SYNDROME Supplemental_disease_name DISEASE_NAME:cerebrooculofacioskeletal_syndrome_1_de_sanctis_cacchione_syndrome_cockayne_syndrome_type_2 Cerebrooculofacioskeletal syndrome 1;DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2 Supplemental_disease_name DISEASE_NAME:cerebrooculofacioskeletal_syndrome_2_trichothiodystrophy_1_photosensitive_xeroderma_pigmentosum_group_d Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive;Xeroderma pigmentosum, group D Supplemental_disease_name DISEASE_NAME:cerebrooculofacioskeletal_syndrome_2_xeroderma_pigmentosum_group_d Cerebrooculofacioskeletal syndrome 2;Xeroderma pigmentosum, group D Supplemental_disease_name DISEASE_NAME:cerebrooculofacioskeletal_syndrome_2_xeroderma_pigmentosum_group_d_trichothiodystrophy_1_photosensitive Cerebrooculofacioskeletal syndrome 2;Xeroderma pigmentosum, group D;Trichothiodystrophy 1, photosensitive Supplemental_disease_name DISEASE_NAME:cerebrooculofacioskeletal_syndrome_3_xeroderma_pigmentosum_group_g Cerebrooculofacioskeletal syndrome 3;Xeroderma pigmentosum, group G Supplemental_disease_name DISEASE_NAME:cerebroretinal_microangiopathy_with_calcifications_and_cysts Cerebroretinal microangiopathy with calcifications and cysts Supplemental_disease_name DISEASE_NAME:cerebroretinal_microangiopathy_with_calcifications_and_cysts_1 Cerebroretinal microangiopathy with calcifications and cysts 1 Supplemental_disease_name DISEASE_NAME:cerebroretinal_microangiopathy_with_calcifications_and_cysts_2 Cerebroretinal microangiopathy with calcifications and cysts 2 Supplemental_disease_name DISEASE_NAME:cerebroretinal_microangiopathy_with_calcifications_and_cysts_3 Cerebroretinal microangiopathy with calcifications and cysts 3 Supplemental_disease_name DISEASE_NAME:cerebroretinal_microangiopathy_with_calcifications_and_cysts_3_pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8_tumor_predisposition_syndrome_3 Cerebroretinal microangiopathy with calcifications and cysts 3;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8;Tumor predisposition syndrome 3 Supplemental_disease_name DISEASE_NAME:cerkl_related_disorder CERKL-related disorder Supplemental_disease_name DISEASE_NAME:cerkl_related_retinopathy CERKL-related retinopathy Supplemental_disease_name DISEASE_NAME:cernunnos_xlf_deficiency Cernunnos-XLF deficiency Supplemental_disease_name DISEASE_NAME:ceroid_lipofuscinosis_neuronal_3_protracted CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED Supplemental_disease_name DISEASE_NAME:ceroid_lipofuscinosis_neuronal_4_kufs_type Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Supplemental_disease_name DISEASE_NAME:ceroid_lipofuscinosis_neuronal_6a Ceroid lipofuscinosis, neuronal, 6A Supplemental_disease_name DISEASE_NAME:ceroid_lipofuscinosis_neuronal_6a_adult_neuronal_ceroid_lipofuscinosis Ceroid lipofuscinosis, neuronal, 6A;Adult neuronal ceroid lipofuscinosis Supplemental_disease_name DISEASE_NAME:ceroid_lipofuscinosis_neuronal_6a_ceroid_lipofuscinosis_neuronal_6b_kufs_type Ceroid lipofuscinosis, neuronal, 6A;Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Supplemental_disease_name DISEASE_NAME:ceroid_lipofuscinosis_neuronal_6b_kufs_type Ceroid lipofuscinosis, neuronal, 6B (Kufs type) Supplemental_disease_name DISEASE_NAME:ceroid_lipofuscinosis_neuronal_6b_kufs_type_ceroid_lipofuscinosis_neuronal_6a Ceroid lipofuscinosis, neuronal, 6B (Kufs type);Ceroid lipofuscinosis, neuronal, 6A Supplemental_disease_name DISEASE_NAME:cers1_related_disorder CERS1-related disorder Supplemental_disease_name DISEASE_NAME:cers3_related_disorder CERS3-related disorder Supplemental_disease_name DISEASE_NAME:cert1_related_disorder CERT1-related disorder Supplemental_disease_name DISEASE_NAME:cervical_cancer_carcinoma Cervical cancer/carcinoma Supplemental_disease_name DISEASE_NAME:cervical_carcinoma Cervical carcinoma Supplemental_disease_name DISEASE_NAME:cervical_intraepithelial_neoplasia Cervical intraepithelial neoplasia Supplemental_disease_name DISEASE_NAME:cervical_squamous_cell_cancer Cervical squamous cell cancer Supplemental_disease_name DISEASE_NAME:cervical_squamous_cell_carcinoma_and_endocervical_adenocarcinoma Cervical squamous cell carcinoma and endocervical adenocarcinoma Supplemental_disease_name DISEASE_NAME:ces1_related_condition CES1-related condition Supplemental_disease_name DISEASE_NAME:cetp_related_disorder CETP-related disorder Supplemental_disease_name DISEASE_NAME:cfap221_related_disorder CFAP221-related disorder Supplemental_disease_name DISEASE_NAME:cfap251_related_disorder CFAP251-related disorder Supplemental_disease_name DISEASE_NAME:cfap298_related_disorder CFAP298-related disorder Supplemental_disease_name DISEASE_NAME:cfap300_related_disorder CFAP300-related disorder Supplemental_disease_name DISEASE_NAME:cfap410_related_disorder CFAP410-related disorder Supplemental_disease_name DISEASE_NAME:cfap418_related_disorder CFAP418-related disorder Supplemental_disease_name DISEASE_NAME:cfap43_related_disorder CFAP43-related disorder Supplemental_disease_name DISEASE_NAME:cfap44_related_disorder CFAP44-related disorder Supplemental_disease_name DISEASE_NAME:cfap47_related_disorder CFAP47-related disorder Supplemental_disease_name DISEASE_NAME:cfap52_related_disorder CFAP52-related disorder Supplemental_disease_name DISEASE_NAME:cfap53_related_disorder CFAP53-related disorder Supplemental_disease_name DISEASE_NAME:cfap57_related_disorder CFAP57-related disorder Supplemental_disease_name DISEASE_NAME:cfap58_related_disorder CFAP58-related disorder Supplemental_disease_name DISEASE_NAME:cfap65_related_disorder CFAP65-related disorder Supplemental_disease_name DISEASE_NAME:cfap69_related_disorder CFAP69-related disorder Supplemental_disease_name DISEASE_NAME:cfap70_related_condition CFAP70-related condition Supplemental_disease_name DISEASE_NAME:cfap74_related_disorder CFAP74-related disorder Supplemental_disease_name DISEASE_NAME:cfap91_related_condition CFAP91-related condition Supplemental_disease_name DISEASE_NAME:cfb_related_disorder CFB-related disorder Supplemental_disease_name DISEASE_NAME:cfd_related_disorder CFD-related disorder Supplemental_disease_name DISEASE_NAME:cfdp1_related_disorder CFDP1-related disorder Supplemental_disease_name DISEASE_NAME:cfh_related_dense_deposit_disease_membranoproliferative_glomerulonephritis_type_ii CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Supplemental_disease_name DISEASE_NAME:cfh_related_disorder CFH-related disorder Supplemental_disease_name DISEASE_NAME:cfhr3_related_disorder CFHR3-related disorder Supplemental_disease_name DISEASE_NAME:cfhr5_deficiency CFHR5 deficiency Supplemental_disease_name DISEASE_NAME:cfhr5_related_disorder CFHR5-related disorder Supplemental_disease_name DISEASE_NAME:cfi_related_disorder CFI-related disorder Supplemental_disease_name DISEASE_NAME:cfl2_related_disorder CFL2-related disorder Supplemental_disease_name DISEASE_NAME:cfp_related_disorder CFP-related disorder Supplemental_disease_name DISEASE_NAME:cftr_related_disorder CFTR-related disorder Supplemental_disease_name DISEASE_NAME:cftr_related_disorder_cystic_fibrosis CFTR-related disorder;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:cftr_related_disorders Cftr-related disorders Supplemental_disease_name DISEASE_NAME:cgnl1_related_disorder CGNL1-related disorder Supplemental_disease_name DISEASE_NAME:champ1_related_disorder CHAMP1-related disorder Supplemental_disease_name DISEASE_NAME:champ1_related_syndrome CHAMP1-related syndrome Supplemental_disease_name DISEASE_NAME:channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive Channelopathy-associated congenital insensitivity to pain, autosomal recessive Supplemental_disease_name DISEASE_NAME:channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_neuropathy_hereditary_sensory_and_autonomic_type_2a_paroxysmal_extreme_pain_disorder_primary_erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Neuropathy, hereditary sensory and autonomic, type 2A;Paroxysmal extreme pain disorder;Primary erythromelalgia Supplemental_disease_name DISEASE_NAME:channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_primary_erythromelalgia_neuropathy_hereditary_sensory_and_autonomic_type_2a_paroxysmal_extreme_pain_disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Primary erythromelalgia;Neuropathy, hereditary sensory and autonomic, type 2A;Paroxysmal extreme pain disorder Supplemental_disease_name DISEASE_NAME:channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_primary_erythromelalgia_paroxysmal_extreme_pain_disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Primary erythromelalgia;Paroxysmal extreme pain disorder Supplemental_disease_name DISEASE_NAME:char_syndrome_patent_ductus_arteriosus_2 Char syndrome;Patent ductus arteriosus 2 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b_multiple_symmetric_lipomatosis Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;;Multiple symmetric lipomatosis Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b_neuropathy_hereditary_motor_and_sensory_type_6a_charcot_marie_tooth_disease_type_2a2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;;Neuropathy, hereditary motor and sensory, type 6A;Charcot-Marie-Tooth disease type 2A2 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b_neuropathy_hereditary_motor_and_sensory_type_6a_charcot_marie_tooth_disease_type_2a2_multiple_symmetric_lipomatosis Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;;Neuropathy, hereditary motor and sensory, type 6A;Charcot-Marie-Tooth disease type 2A2;Multiple symmetric lipomatosis Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_iia_2ii Charcot-Marie-Tooth disease, axonal, IIa 2II Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_iia_2ii_agenesis_of_the_corpus_callosum_with_peripheral_neuropathy Charcot-Marie-Tooth disease, axonal, IIa 2II;Agenesis of the corpus callosum with peripheral neuropathy Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_mitochondrial_form_1 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2c_neuronopathy_distal_hereditary_motor_autosomal_dominant_8 Charcot-Marie-Tooth disease axonal type 2C;Neuronopathy, distal hereditary motor, autosomal dominant 8 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2c_neuronopathy_distal_hereditary_motor_autosomal_dominant_8_scapuloperoneal_spinal_muscular_atrophy Charcot-Marie-Tooth disease axonal type 2C;Neuronopathy, distal hereditary motor, autosomal dominant 8;Scapuloperoneal spinal muscular atrophy Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2c_scapuloperoneal_spinal_muscular_atrophy_trpv4_related_bone_disorder Charcot-Marie-Tooth disease axonal type 2C;Scapuloperoneal spinal muscular atrophy;TRPV4-related bone disorder Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2c_scapuloperoneal_spinal_muscular_atrophy_trpv4_related_bone_disorder_neuronopathy_distal_hereditary_motor_autosomal_dominant_8 Charcot-Marie-Tooth disease axonal type 2C;Scapuloperoneal spinal muscular atrophy;TRPV4-related bone disorder;Neuronopathy, distal hereditary motor, autosomal dominant 8 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2cc_amyotrophic_lateral_sclerosis_type_1 Charcot-Marie-Tooth disease axonal type 2CC;Amyotrophic lateral sclerosis type 1 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2dd_hypomagnesemia_seizures_and_intellectual_disability_2 Charcot-Marie-tooth disease, axonal, type 2DD;Hypomagnesemia, seizures, and intellectual disability 2 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2ee_mitochondrial_dna_depletion_syndrome_6_hepatocerebral_type Charcot-Marie-Tooth disease, axonal, type 2EE;Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2f_neuronopathy_distal_hereditary_motor_type_2b Charcot-Marie-Tooth disease axonal type 2F;Neuronopathy, distal hereditary motor, type 2B Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2ff Charcot-Marie-Tooth disease, axonal, type 2FF Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2gg Charcot-Marie-Tooth Disease, axonal, type 2GG Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2gg_charcot_marie_tooth_disease_dominant_intermediate_a Charcot-Marie-Tooth Disease, axonal, type 2GG;Charcot-Marie-Tooth disease, dominant intermediate A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2hh Charcot-Marie-Tooth disease, axonal, Type 2HH Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2hh_alagille_syndrome_due_to_a_jag1_point_mutation_deafness_congenital_heart_defects_and_posterior_embryotoxon_tetralogy_of_fallot Charcot-Marie-Tooth disease, axonal, Type 2HH;Alagille syndrome due to a JAG1 point mutation;Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2hh_alagille_syndrome_due_to_a_jag1_point_mutation_tetralogy_of_fallot_deafness_congenital_heart_defects_and_posterior_embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH;Alagille syndrome due to a JAG1 point mutation;Tetralogy of Fallot;Deafness, congenital heart defects, and posterior embryotoxon Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2hh_deafness_congenital_heart_defects_and_posterior_embryotoxon_alagille_syndrome_due_to_a_jag1_point_mutation_tetralogy_of_fallot Charcot-Marie-Tooth disease, axonal, Type 2HH;Deafness, congenital heart defects, and posterior embryotoxon;Alagille syndrome due to a JAG1 point mutation;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2hh_deafness_congenital_heart_defects_and_posterior_embryotoxon_tetralogy_of_fallot_alagille_syndrome_due_to_a_jag1_point_mutation Charcot-Marie-Tooth disease, axonal, Type 2HH;Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot;Alagille syndrome due to a JAG1 point mutation Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2hh_tetralogy_of_fallot_deafness_congenital_heart_defects_and_posterior_embryotoxon_alagille_syndrome_due_to_a_jag1_point_mutation Charcot-Marie-Tooth disease, axonal, Type 2HH;Tetralogy of Fallot;Deafness, congenital heart defects, and posterior embryotoxon;Alagille syndrome due to a JAG1 point mutation Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_type_4a Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease type 4A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_recessive_intermediate_a Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease recessive intermediate A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2kk Charcot-Marie-Tooth disease, axonal, type 2KK Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2l_neuronopathy_distal_hereditary_motor_type_2a Charcot-Marie-Tooth disease axonal type 2L;Neuronopathy, distal hereditary motor, type 2A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2ll Charcot-Marie-Tooth disease, axonal, type 2LL Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2mm Charcot-marie-tooth disease, axonal, type 2MM Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2n_developmental_and_epileptic_encephalopathy_29 Charcot-Marie-Tooth disease axonal type 2N;Developmental and epileptic encephalopathy, 29 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2n_developmental_and_epileptic_encephalopathy_29_leukoencephalopathy_hereditary_diffuse_with_spheroids_2_trichothiodystrophy_8_nonphotosensitive Charcot-Marie-Tooth disease axonal type 2N;Developmental and epileptic encephalopathy, 29;Leukoencephalopathy, hereditary diffuse, with spheroids 2;Trichothiodystrophy 8, nonphotosensitive Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2o_autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures Charcot-Marie-Tooth disease axonal type 2O;Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2o_autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures_intellectual_disability_autosomal_dominant_13 Charcot-Marie-Tooth disease axonal type 2O;Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures;Intellectual disability, autosomal dominant 13 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2o_intellectual_disability_autosomal_dominant_13 Charcot-Marie-Tooth disease axonal type 2O;Intellectual disability, autosomal dominant 13 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2o_intellectual_disability_autosomal_dominant_13_autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures Charcot-Marie-Tooth disease axonal type 2O;Intellectual disability, autosomal dominant 13;Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2o_spinal_muscular_atrophy_with_lower_extremity_predominance_intellectual_disability_autosomal_dominant_13 Charcot-Marie-Tooth disease axonal type 2O;Spinal muscular atrophy with lower extremity predominance;Intellectual disability, autosomal dominant 13 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2p_ar Charcot-Marie-Tooth disease axonal type 2P-AR Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2q_2_aminoadipic_2_oxoadipic_aciduria Charcot-Marie-Tooth disease axonal type 2Q;2-aminoadipic 2-oxoadipic aciduria Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2s_autosomal_recessive_distal_spinal_muscular_atrophy_1 Charcot-Marie-Tooth disease axonal type 2S;Autosomal recessive distal spinal muscular atrophy 1 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2t_charcot_marie_tooth_disease_type_2_mme_related_autosomal_dominant_charcot_marie_tooth_disease_type_2 Charcot-Marie-Tooth disease axonal type 2T;Charcot-Marie-Tooth disease type 2;MME-related autosomal dominant Charcot Marie Tooth disease type 2 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2t_spinocerebellar_ataxia_43 Charcot-Marie-Tooth disease axonal type 2T;Spinocerebellar ataxia 43 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2u_severe_early_onset_pulmonary_alveolar_proteinosis_due_to_mars_deficiency Charcot-Marie-Tooth disease axonal type 2U;Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2v_mucopolysaccharidosis_mps_iii_b Charcot-Marie-Tooth disease axonal type 2V;Mucopolysaccharidosis, MPS-III-B Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2x_amyotrophic_lateral_sclerosis_type_5_hereditary_spastic_paraplegia_11 Charcot-Marie-Tooth disease axonal type 2X;Amyotrophic lateral sclerosis type 5;Hereditary spastic paraplegia 11 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2x_charcot_marie_tooth_disease_axonal_type_2c_amyotrophic_lateral_sclerosis_type_5 Charcot-Marie-Tooth disease axonal type 2X;Charcot-Marie-Tooth disease axonal type 2C;Amyotrophic lateral sclerosis type 5 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2x_hereditary_spastic_paraplegia_11 Charcot-Marie-Tooth disease axonal type 2X;Hereditary spastic paraplegia 11 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2x_hereditary_spastic_paraplegia_11_amyotrophic_lateral_sclerosis_type_5 Charcot-Marie-Tooth disease axonal type 2X;Hereditary spastic paraplegia 11;Amyotrophic lateral sclerosis type 5 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2x_juvenile_amyotrophic_lateral_sclerosis_hereditary_spastic_paraplegia_11 Charcot-Marie-Tooth disease axonal type 2X;Juvenile amyotrophic lateral sclerosis;Hereditary spastic paraplegia 11 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_type_2z_developmental_delay_impaired_growth_dysmorphic_facies_and_axonal_neuropathy Charcot-Marie-Tooth disease axonal type 2Z;Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_recessive_intermediate_a Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_type_4a Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_type_4a_autosomal_dominant_charcot_marie_tooth_disease_type_2k_charcot_marie_tooth_disease_axonal_type_2k Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease type 4A;Autosomal dominant Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease axonal type 2K Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_axonal_type_2k Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_demyelinating_iia_1h Charcot-Marie-Tooth disease, demyelinating, IIA 1H Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_demyelinating_iia_1h_cutis_laxa_autosomal_dominant_2_macular_degeneration_age_related_3_cutis_laxa_autosomal_recessive_type_1a Charcot-Marie-Tooth disease, demyelinating, IIA 1H;Cutis laxa, autosomal dominant 2;Macular degeneration, age-related, 3;Cutis laxa, autosomal recessive, type 1A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_demyelinating_iia_1i Charcot-Marie-Tooth disease, demyelinating, IIA 1I Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_demyelinating_iia_1i_hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Charcot-Marie-Tooth disease, demyelinating, IIA 1I;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_demyelinating_iia_1i_leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Charcot-Marie-Tooth disease, demyelinating, IIA 1I;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_demyelinating_type_1g Charcot-Marie-Tooth disease, demyelinating, type 1G Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_demyelinating_type_1j Charcot-Marie-Tooth disease, demyelinating, type 1J Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_dominant_intermediate_b_autosomal_dominant_centronuclear_myopathy_fetal_akinesia_cerebral_and_retinal_hemorrhage_syndrome Charcot-Marie-Tooth disease dominant intermediate B;Autosomal dominant centronuclear myopathy;Fetal akinesia-cerebral and retinal hemorrhage syndrome Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_dominant_intermediate_b_with_neutropenia Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_dominant_intermediate_c_neurologic_endocrine_and_pancreatic_disease_multisystem_infantile_onset_2 Charcot-Marie-Tooth disease dominant intermediate C;Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_dominant_intermediate_d_charcot_marie_tooth_disease_type_2i_charcot_marie_tooth_disease_type_2j_charcot_marie_tooth_disease_type_1b Charcot-Marie-Tooth disease dominant intermediate D;Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease type 2J;Charcot-Marie-Tooth disease type 1B Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_dominant_intermediate_e_focal_segmental_glomerulosclerosis_5 Charcot-Marie-Tooth disease dominant intermediate E;Focal segmental glomerulosclerosis 5 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_dominant_intermediate_g_charcot_marie_tooth_disease_type_1f_charcot_marie_tooth_disease_type_2e Charcot-Marie-Tooth disease, dominant intermediate G;Charcot-Marie-Tooth disease type 1F;Charcot-Marie-Tooth disease type 2E Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_dominant_intermediate_g_charcot_marie_tooth_disease_type_2e_charcot_marie_tooth_disease_type_1f Charcot-Marie-Tooth disease, dominant intermediate G;Charcot-Marie-Tooth disease type 2E;Charcot-Marie-Tooth disease type 1F Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_hearing_loss_intellectual_disability_syndrome Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_type_4a Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease type 4A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_type_4a Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_type_4a Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_axonal_type_2k Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease axonal type 2K Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_recessive_intermediate_b_autosomal_recessive_nonsyndromic_hearing_loss_89_leukoencephalopathy_progressive_infantile_onset_with_or_without_deafness_deafness_congenital_and_adult_onset_progressive_leukoencephalopathy Charcot-Marie-Tooth disease recessive intermediate B;Autosomal recessive nonsyndromic hearing loss 89;Leukoencephalopathy, progressive, infantile-onset, with or without deafness;Deafness, congenital, and adult-onset progressive leukoencephalopathy Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_recessive_intermediate_c_neuronopathy_distal_hereditary_motor_autosomal_recessive_4 Charcot-Marie-Tooth disease recessive intermediate C;Neuronopathy, distal hereditary motor, autosomal recessive 4 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1a_autosomal_recessive Charcot-Marie-Tooth disease, type 1a, autosomal recessive Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1a_with_focally_folded_myelin_sheaths Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1b_charcot_marie_tooth_disease_dominant_intermediate_d_charcot_marie_tooth_disease_type_2i_charcot_marie_tooth_disease_type_2j Charcot-Marie-Tooth disease type 1B;Charcot-Marie-Tooth disease dominant intermediate D;Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease type 2J Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1b_charcot_marie_tooth_disease_type_2i_charcot_marie_tooth_disease_type_2j_charcot_marie_tooth_disease_dominant_intermediate_d Charcot-Marie-Tooth disease type 1B;Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease type 2J;Charcot-Marie-Tooth disease dominant intermediate D Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1b_dejerine_sottas_disease Charcot-Marie-Tooth disease type 1B;Dejerine-Sottas disease Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1b_variegate_porphyria_pheochromocytoma_paraganglioma_syndrome_3_migraine_familial_hemiplegic_2 Charcot-Marie-Tooth disease type 1B;Variegate porphyria;Pheochromocytoma/paraganglioma syndrome 3;Migraine, familial hemiplegic, 2 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1b_with_focally_folded_myelin_sheaths CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1d_dejerine_sottas_disease_charcot_marie_tooth_disease_type_4e Charcot-Marie-Tooth disease type 1D;Dejerine-Sottas disease;Charcot-Marie-Tooth disease type 4E Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1e_charcot_marie_tooth_disease_type_ia_dejerine_sottas_disease Charcot-Marie-Tooth disease type 1E;Charcot-Marie-Tooth disease, type IA;Dejerine-Sottas disease Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1f_charcot_marie_tooth_disease_dominant_intermediate_g_charcot_marie_tooth_disease_type_2e Charcot-Marie-Tooth disease type 1F;Charcot-Marie-Tooth disease, dominant intermediate G;Charcot-Marie-Tooth disease type 2E Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1f_charcot_marie_tooth_disease_type_2e Charcot-Marie-Tooth disease type 1F;Charcot-Marie-Tooth disease type 2E Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_1f_charcot_marie_tooth_disease_type_2e_charcot_marie_tooth_disease_dominant_intermediate_g Charcot-Marie-Tooth disease type 1F;Charcot-Marie-Tooth disease type 2E;Charcot-Marie-Tooth disease, dominant intermediate G Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a Charcot-Marie-Tooth disease, type 2A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a1_charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b_charcot_marie_tooth_disease_type_2a2_charcot_marie_tooth_disease_type_2a_neuropathy_hereditary_motor_and_sensory_type_6a Charcot-Marie-Tooth disease type 2A1;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;;Charcot-Marie-Tooth disease type 2A2;Charcot-Marie-Tooth disease, type 2A;Neuropathy, hereditary motor and sensory, type 6A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a1_neuroblastoma_susceptibility_to_1 Charcot-Marie-Tooth disease type 2A1;Neuroblastoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a1_pheochromocytoma_neuroblastoma_susceptibility_to_1 Charcot-Marie-Tooth disease type 2A1;Pheochromocytoma;Neuroblastoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a2 Charcot-Marie-Tooth disease type 2A2 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a2_charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b Charcot-Marie-Tooth disease type 2A2;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a2_charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b_hereditary_motor_and_sensory_neuropathy_with_optic_atrophy Charcot-Marie-Tooth disease type 2A2;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;;Hereditary motor and sensory neuropathy with optic atrophy Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a2_charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b_neuropathy_hereditary_motor_and_sensory_type_6a Charcot-Marie-Tooth disease type 2A2;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;;Neuropathy, hereditary motor and sensory, type 6A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a2_neuropathy_hereditary_motor_and_sensory_type_6a Charcot-Marie-Tooth disease type 2A2;Neuropathy, hereditary motor and sensory, type 6A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a2_neuropathy_hereditary_motor_and_sensory_type_6a_charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b Charcot-Marie-Tooth disease type 2A2;Neuropathy, hereditary motor and sensory, type 6A;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2a_hereditary_motor_and_sensory_neuropathy_with_optic_atrophy Charcot-Marie-Tooth disease, type 2A;Hereditary motor and sensory neuropathy with optic atrophy Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2b1_congenital_muscular_dystrophy_due_to_lmna_mutation_emery_dreifuss_muscular_dystrophy_3_autosomal_recessive_emery_dreifuss_muscular_dystrophy_2_autosomal_dominant Charcot-Marie-Tooth disease type 2B1;Congenital muscular dystrophy due to LMNA mutation;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Emery-Dreifuss muscular dystrophy 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2b1_emery_dreifuss_muscular_dystrophy_2_autosomal_dominant_congenital_muscular_dystrophy_due_to_lmna_mutation_emery_dreifuss_muscular_dystrophy_3_autosomal_recessive Charcot-Marie-Tooth disease type 2B1;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Congenital muscular dystrophy due to LMNA mutation;Emery-Dreifuss muscular dystrophy 3, autosomal recessive Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2b1_mandibuloacral_dysplasia_with_type_a_lipodystrophy_emery_dreifuss_muscular_dystrophy_3_autosomal_recessive Charcot-Marie-Tooth disease type 2B1;Mandibuloacral dysplasia with type A lipodystrophy;Emery-Dreifuss muscular dystrophy 3, autosomal recessive Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2b2_ataxia_oculomotor_apraxia_type_4_microcephaly_seizures_and_developmental_delay Charcot-Marie-Tooth disease type 2B2;Ataxia - oculomotor apraxia type 4;Microcephaly, seizures, and developmental delay Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2b2_congenital_cataract_microcephaly_nevus_flammeus_simplex_severe_intellectual_disability_syndrome Charcot-Marie-Tooth disease type 2B2;Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2b2_microcephaly_seizures_and_developmental_delay Charcot-Marie-Tooth disease type 2B2;Microcephaly, seizures, and developmental delay Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2b2_microcephaly_seizures_and_developmental_delay_ataxia_oculomotor_apraxia_type_4 Charcot-Marie-Tooth disease type 2B2;Microcephaly, seizures, and developmental delay;Ataxia - oculomotor apraxia type 4 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2d_neuronopathy_distal_hereditary_motor_type_5a Charcot-Marie-Tooth disease type 2D;Neuronopathy, distal hereditary motor, type 5A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2e_charcot_marie_tooth_disease_dominant_intermediate_g_charcot_marie_tooth_disease_type_1f Charcot-Marie-Tooth disease type 2E;Charcot-Marie-Tooth disease, dominant intermediate G;Charcot-Marie-Tooth disease type 1F Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2e_charcot_marie_tooth_disease_type_1f_charcot_marie_tooth_disease_dominant_intermediate_g Charcot-Marie-Tooth disease type 2E;Charcot-Marie-Tooth disease type 1F;Charcot-Marie-Tooth disease, dominant intermediate G Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2i_charcot_marie_tooth_disease_type_1b Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease type 1B Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2i_charcot_marie_tooth_disease_type_2j_charcot_marie_tooth_disease_dominant_intermediate_d_charcot_marie_tooth_disease_type_1b Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease type 2J;Charcot-Marie-Tooth disease dominant intermediate D;Charcot-Marie-Tooth disease type 1B Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2i_charcot_marie_tooth_disease_type_2j_charcot_marie_tooth_disease_type_1b_charcot_marie_tooth_disease_dominant_intermediate_d Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease type 2J;Charcot-Marie-Tooth disease type 1B;Charcot-Marie-Tooth disease dominant intermediate D Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2i_charcot_marie_tooth_disease_type_2j_charcot_marie_tooth_disease_type_1b_charcot_marie_tooth_disease_dominant_intermediate_d_neuropathy_congenital_hypomyelinating_2 Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease type 2J;Charcot-Marie-Tooth disease type 1B;Charcot-Marie-Tooth disease dominant intermediate D;Neuropathy, congenital hypomyelinating, 2 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2t Charcot-Marie-Tooth disease type 2T Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_2y_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_6_inclusion_body_myopathy_with_paget_disease_of_bone_and_frontotemporal_dementia_type_1 Charcot-Marie-Tooth disease type 2Y;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_recessive_intermediate_a Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease recessive intermediate A Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_axonal_type_2k_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4a_charcot_marie_tooth_disease_recessive_intermediate_a_charcot_marie_tooth_disease_axonal_with_vocal_cord_paresis_autosomal_recessive_charcot_marie_tooth_disease_axonal_type_2k Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease axonal type 2K Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4b2_congenital_thrombocytopenia Charcot-Marie-Tooth disease type 4B2;Congenital thrombocytopenia Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4c_susceptibility_to_mononeuropathy_of_the_median_nerve_mild Charcot-Marie-Tooth disease type 4C;Susceptibility to mononeuropathy of the median nerve, mild Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4e_charcot_marie_tooth_disease_type_1d_dejerine_sottas_disease Charcot-Marie-Tooth disease type 4E;Charcot-Marie-Tooth disease type 1D;Dejerine-Sottas disease Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4f_dejerine_sottas_disease Charcot-Marie-Tooth disease type 4F;Dejerine-Sottas disease Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4g_hemolytic_anemia_due_to_hexokinase_deficiency Charcot-Marie-Tooth disease type 4G;Hemolytic anemia due to hexokinase deficiency Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4g_neurodevelopmental_disorder_with_visual_defects_and_brain_anomalies Charcot-Marie-Tooth disease type 4G;Neurodevelopmental disorder with visual defects and brain anomalies Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4g_neurodevelopmental_disorder_with_visual_defects_and_brain_anomalies_retinitis_pigmentosa_79_hemolytic_anemia_due_to_hexokinase_deficiency Charcot-Marie-Tooth disease type 4G;Neurodevelopmental disorder with visual defects and brain anomalies;Retinitis pigmentosa 79;Hemolytic anemia due to hexokinase deficiency Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4j_yunis_varon_syndrome Charcot-Marie-Tooth disease type 4J;Yunis-Varon syndrome Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4j_yunis_varon_syndrome_bilateral_parasagittal_parieto_occipital_polymicrogyria_amyotrophic_lateral_sclerosis_type_11 Charcot-Marie-Tooth disease type 4J;Yunis-Varon syndrome;Bilateral parasagittal parieto-occipital polymicrogyria;Amyotrophic lateral sclerosis type 11 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4k_leigh_syndrome Charcot-Marie-Tooth disease type 4K;Leigh syndrome Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_4k_mitochondrial_complex_iv_deficiency_nuclear_type_1 Charcot-Marie-Tooth disease type 4K;Mitochondrial complex IV deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_i Charcot-Marie-Tooth disease, type I Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_type_ia Charcot-Marie-Tooth disease, type IA Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_x_linked_recessive_4_deafness_x_linked_5_severe_x_linked_mitochondrial_encephalomyopathy_spondyloepimetaphyseal_dysplasia_bieganski_type Charcot-Marie-Tooth disease X-linked recessive 4;Deafness, X-linked 5;Severe X-linked mitochondrial encephalomyopathy;Spondyloepimetaphyseal dysplasia, Bieganski type Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_x_linked_recessive_4_spondyloepimetaphyseal_dysplasia_bieganski_type_severe_x_linked_mitochondrial_encephalomyopathy_deafness_x_linked_5 Charcot-Marie-Tooth disease X-linked recessive 4;Spondyloepimetaphyseal dysplasia, Bieganski type;Severe X-linked mitochondrial encephalomyopathy;Deafness, X-linked 5 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_x_linked_recessive_5_arts_syndrome_hearing_loss_x_linked_1_phosphoribosylpyrophosphate_synthetase_superactivity Charcot-Marie-Tooth disease X-linked recessive 5;Arts syndrome;Hearing loss, X-linked 1;Phosphoribosylpyrophosphate synthetase superactivity Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_disease_x_linked_recessive_5_arts_syndrome_phosphoribosylpyrophosphate_synthetase_superactivity_hearing_loss_x_linked_1 Charcot-Marie-Tooth disease X-linked recessive 5;Arts syndrome;Phosphoribosylpyrophosphate synthetase superactivity;Hearing loss, X-linked 1 Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_intermediate Charcot-Marie-Tooth, Intermediate Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_like_disease Charcot-Marie-Tooth-like disease Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_neuropathy_x Charcot-Marie-Tooth Neuropathy X Supplemental_disease_name DISEASE_NAME:charcot_marie_tooth_neuropathy_x_combined_oxidative_phosphorylation_deficiency Charcot-Marie-Tooth Neuropathy X;Combined oxidative phosphorylation deficiency Supplemental_disease_name DISEASE_NAME:charge_syndrome_hypogonadotropic_hypogonadism_5_with_or_without_anosmia CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia Supplemental_disease_name DISEASE_NAME:charge_syndrome_hypogonadotropic_hypogonadism_7_with_or_without_anosmia CHARGE syndrome;Hypogonadotropic hypogonadism 7 with or without anosmia Supplemental_disease_name DISEASE_NAME:chat_related_disorder CHAT-related disorder Supplemental_disease_name DISEASE_NAME:chchd10_related_disorder CHCHD10-related disorder Supplemental_disease_name DISEASE_NAME:chchd2_related_disorder CHCHD2-related disorder Supplemental_disease_name DISEASE_NAME:chd1_related_disorder CHD1-related disorder Supplemental_disease_name DISEASE_NAME:chd1l_related_disorder CHD1L-related disorder Supplemental_disease_name DISEASE_NAME:chd2_related_disorder CHD2-related disorder Supplemental_disease_name DISEASE_NAME:chd2_related_neurodevelopmental_disorder CHD2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:chd3_related_disorder CHD3-related disorder Supplemental_disease_name DISEASE_NAME:chd4_related_disorder CHD4-related disorder Supplemental_disease_name DISEASE_NAME:chd5_associated_neurodevelopmental_disorder CHD5-associated Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:chd5_related_disorder CHD5-related disorder Supplemental_disease_name DISEASE_NAME:chd5_related_neurodevelopmental_disorder CHD5-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:chd6_related_disorder CHD6-related disorder Supplemental_disease_name DISEASE_NAME:chd6_related_neurodevelopmental_disorder CHD6-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:chd7_disorder CHD7 Disorder Supplemental_disease_name DISEASE_NAME:chd7_related_charge_syndrome CHD7-related CHARGE syndrome Supplemental_disease_name DISEASE_NAME:chd7_related_disorder CHD7-related disorder Supplemental_disease_name DISEASE_NAME:chd8_associated_neurodevelopmental_syndrome CHD8-associated Neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:chd8_related_disorder CHD8-related disorder Supplemental_disease_name DISEASE_NAME:chediak_higashi_syndrome_adult_type CHEDIAK-HIGASHI SYNDROME, ADULT TYPE Supplemental_disease_name DISEASE_NAME:chediak_higashi_syndrome_childhood_type CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE Supplemental_disease_name DISEASE_NAME:chek1_related_disorder CHEK1-related disorder Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_bone_osteosarcoma_familial_prostate_cancer CHEK2-related cancer predisposition;Bone osteosarcoma;Familial prostate cancer Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_bone_osteosarcoma_prostate_cancer_colorectal_cancer_familial_cancer_of_breast CHEK2-related cancer predisposition;Bone osteosarcoma;Prostate cancer;Colorectal cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_bone_osteosarcoma_prostate_cancer_familial_cancer_of_breast CHEK2-related cancer predisposition;Bone osteosarcoma;Prostate cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_familial_cancer_of_breast CHEK2-related cancer predisposition;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_familial_cancer_of_breast_bone_osteosarcoma_familial_prostate_cancer CHEK2-related cancer predisposition;Familial cancer of breast;Bone osteosarcoma;Familial prostate cancer Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_familial_cancer_of_breast_bone_osteosarcoma_prostate_cancer CHEK2-related cancer predisposition;Familial cancer of breast;Bone osteosarcoma;Prostate cancer Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_familial_cancer_of_breast_colorectal_cancer_bone_osteosarcoma_familial_prostate_cancer CHEK2-related cancer predisposition;Familial cancer of breast;Colorectal cancer;Bone osteosarcoma;Familial prostate cancer Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_familial_cancer_of_breast_colorectal_cancer_prostate_cancer_bone_osteosarcoma CHEK2-related cancer predisposition;Familial cancer of breast;Colorectal cancer;Prostate cancer;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_familial_cancer_of_breast_hereditary_breast_ovarian_cancer_syndrome CHEK2-related cancer predisposition;Familial cancer of breast;Hereditary breast ovarian cancer syndrome Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_familial_cancer_of_breast_prostate_cancer_bone_osteosarcoma CHEK2-related cancer predisposition;Familial cancer of breast;Prostate cancer;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_familial_prostate_cancer CHEK2-related cancer predisposition;Familial prostate cancer Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_familial_prostate_cancer_bone_osteosarcoma CHEK2-related cancer predisposition;Familial prostate cancer;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_predisposition_prostate_cancer_colorectal_cancer_familial_cancer_of_breast CHEK2-related cancer predisposition;Prostate cancer;Colorectal cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:chek2_related_cancer_risk CHEK2-related cancer risk Supplemental_disease_name DISEASE_NAME:chek2_related_disorder CHEK2-related disorder Supplemental_disease_name DISEASE_NAME:chest_pain_hypertrophic_cardiomyopathy Chest pain;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:chgb_related_disorder CHGB-related disorder Supplemental_disease_name DISEASE_NAME:chiari_malformation Chiari malformation Supplemental_disease_name DISEASE_NAME:chic2_related_disorder CHIC2-related disorder Supplemental_disease_name DISEASE_NAME:chilblain_lupus_1 Chilblain lupus 1 Supplemental_disease_name DISEASE_NAME:chilblain_lupus_1_aicardi_goutieres_syndrome_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations Chilblain lupus 1;Aicardi-Goutieres syndrome 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Supplemental_disease_name DISEASE_NAME:chilblain_lupus_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_aicardi_goutieres_syndrome_1 Chilblain lupus 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Aicardi-Goutieres syndrome 1 Supplemental_disease_name DISEASE_NAME:chilblain_lupus_1_systemic_lupus_erythematosus_aicardi_goutieres_syndrome_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations Chilblain lupus 1;Systemic lupus erythematosus;Aicardi-Goutieres syndrome 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Supplemental_disease_name DISEASE_NAME:chilblain_lupus_1_systemic_lupus_erythematosus_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_aicardi_goutieres_syndrome_1 Chilblain lupus 1;Systemic lupus erythematosus;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Aicardi-Goutieres syndrome 1 Supplemental_disease_name DISEASE_NAME:chilblain_lupus_2 Chilblain lupus 2 Supplemental_disease_name DISEASE_NAME:chilblain_lupus_2_aicardi_goutieres_syndrome_5 Chilblain lupus 2;Aicardi-Goutieres syndrome 5 Supplemental_disease_name DISEASE_NAME:child_syndrome_ck_syndrome Child syndrome;CK syndrome Supplemental_disease_name DISEASE_NAME:childhood_cancer_retinoblastoma Childhood cancer retinoblastoma Supplemental_disease_name DISEASE_NAME:childhood_encephalopathy_due_to_thiamine_pyrophosphokinase_deficiency Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Supplemental_disease_name DISEASE_NAME:childhood_hypophosphatasia_adult_hypophosphatasia Childhood hypophosphatasia;Adult hypophosphatasia Supplemental_disease_name DISEASE_NAME:childhood_hypophosphatasia_adult_hypophosphatasia_infantile_hypophosphatasia Childhood hypophosphatasia;Adult hypophosphatasia;Infantile hypophosphatasia Supplemental_disease_name DISEASE_NAME:childhood_hypophosphatasia_infantile_hypophosphatasia_adult_hypophosphatasia Childhood hypophosphatasia;Infantile hypophosphatasia;Adult hypophosphatasia Supplemental_disease_name DISEASE_NAME:childhood_kidney_cell_carcinoma_high_grade_astrocytoma_with_piloid_features Childhood kidney cell carcinoma;High-grade astrocytoma with piloid features Supplemental_disease_name DISEASE_NAME:childhood_kidney_wilms_tumor Childhood kidney Wilms tumor Supplemental_disease_name DISEASE_NAME:childhood_myocerebrohepatopathy_spectrum Childhood myocerebrohepatopathy spectrum Supplemental_disease_name DISEASE_NAME:childhood_neoplasm Childhood neoplasm Supplemental_disease_name DISEASE_NAME:childhood_neoplasm_hereditary_cancer_predisposing_syndrome Childhood neoplasm;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:childhood_onset_autosomal_recessive_myopathy_with_external_ophthalmoplegia Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:childhood_onset_dystonias_optic_atrophy Childhood Onset Dystonias;Optic atrophy Supplemental_disease_name DISEASE_NAME:childhood_onset_epilepsy_syndrome Childhood-onset epilepsy syndrome Supplemental_disease_name DISEASE_NAME:childhood_onset_glut1_deficiency_syndrome_2_epilepsy_idiopathic_generalized_susceptibility_to_12_dystonia_9_encephalopathy_due_to_glut1_deficiency_hereditary_cryohydrocytosis_with_reduced_stomatin Childhood onset GLUT1 deficiency syndrome 2;Epilepsy, idiopathic generalized, susceptibility to, 12;Dystonia 9;Encephalopathy due to GLUT1 deficiency;Hereditary cryohydrocytosis with reduced stomatin Supplemental_disease_name DISEASE_NAME:childhood_onset_glut1_deficiency_syndrome_2_epilepsy_idiopathic_generalized_susceptibility_to_12_dystonia_9_hereditary_cryohydrocytosis_with_reduced_stomatin_encephalopathy_due_to_glut1_deficiency Childhood onset GLUT1 deficiency syndrome 2;Epilepsy, idiopathic generalized, susceptibility to, 12;Dystonia 9;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency Supplemental_disease_name DISEASE_NAME:childhood_onset_glut1_deficiency_syndrome_2_epilepsy_idiopathic_generalized_susceptibility_to_12_encephalopathy_due_to_glut1_deficiency_dystonia_9_hereditary_cryohydrocytosis_with_reduced_stomatin Childhood onset GLUT1 deficiency syndrome 2;Epilepsy, idiopathic generalized, susceptibility to, 12;Encephalopathy due to GLUT1 deficiency;Dystonia 9;Hereditary cryohydrocytosis with reduced stomatin Supplemental_disease_name DISEASE_NAME:childhood_onset_hearing_loss Childhood onset hearing loss Supplemental_disease_name DISEASE_NAME:childhood_onset_hereditary_spastic_paraplegia Childhood onset hereditary spastic paraplegia Supplemental_disease_name DISEASE_NAME:childhood_onset_schizophrenia Childhood-onset schizophrenia Supplemental_disease_name DISEASE_NAME:childhood_onset_sensorineural_hearing_impairment Childhood onset sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:childhood_onset_sensorineural_hearing_impairment_lactic_acidosis_leukoencephalopathy Childhood onset sensorineural hearing impairment;Lactic acidosis;Leukoencephalopathy Supplemental_disease_name DISEASE_NAME:childhood_onset_vcp_related_neurodevelopmental_disorder Childhood Onset VCP-related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:chilton_okur_chung_neurodevelopmental_syndrome Chilton-Okur-Chung neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:chime_syndrome_hyperphosphatasia_with_intellectual_disability_syndrome_1 CHIME syndrome;Hyperphosphatasia with intellectual disability syndrome 1 Supplemental_disease_name DISEASE_NAME:chine1 CHINE1 Supplemental_disease_name DISEASE_NAME:chine2 CHINE2 Supplemental_disease_name DISEASE_NAME:chitayat_syndrome Chitayat syndrome Supplemental_disease_name DISEASE_NAME:chitayat_syndrome_lambdoidal_craniosynostosis Chitayat syndrome;Lambdoidal craniosynostosis Supplemental_disease_name DISEASE_NAME:chitotriosidase_deficiency Chitotriosidase deficiency Supplemental_disease_name DISEASE_NAME:chkb_related_congenital_muscular_dystrophy_chkb_cmd CHKB-Related Congenital Muscular Dystrophy (CHKB-CMD) Supplemental_disease_name DISEASE_NAME:chkb_related_disorder CHKB-related disorder Supplemental_disease_name DISEASE_NAME:chl1_related_disorder CHL1-related disorder Supplemental_disease_name DISEASE_NAME:chloramphenicol_resistance Chloramphenicol resistance Supplemental_disease_name DISEASE_NAME:chm_related_disorder CHM-related disorder Supplemental_disease_name DISEASE_NAME:chmp1a_related_disorder CHMP1A-related disorder Supplemental_disease_name DISEASE_NAME:chmp2b_related_disorder CHMP2B-related disorder Supplemental_disease_name DISEASE_NAME:chmp4b_related_disorder CHMP4B-related disorder Supplemental_disease_name DISEASE_NAME:chn1_related_disorder CHN1-related disorder Supplemental_disease_name DISEASE_NAME:chn2_related_disorder CHN2-related disorder Supplemental_disease_name DISEASE_NAME:choanal_atresia_athelia_hypothyroidism_delayed_puberty_short_stature_syndrome Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Supplemental_disease_name DISEASE_NAME:choanal_atresia_athelia_hypothyroidism_delayed_puberty_short_stature_syndrome_kabuki_syndrome_1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome;Kabuki syndrome 1 Supplemental_disease_name DISEASE_NAME:choanal_atresia_hearing_loss_cardiac_defects_craniofacial_dysmorphism_syndrome Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:cholecystokinin_a_receptor_polymorphism CHOLECYSTOKININ A RECEPTOR POLYMORPHISM Supplemental_disease_name DISEASE_NAME:cholestasis_diarrhea Cholestasis;Diarrhea Supplemental_disease_name DISEASE_NAME:cholestasis_intrahepatic_of_pregnancy_1 Cholestasis, intrahepatic, of pregnancy, 1 Supplemental_disease_name DISEASE_NAME:cholestasis_intrahepatic_of_pregnancy_1_progressive_familial_intrahepatic_cholestasis_type_1_benign_recurrent_intrahepatic_cholestasis_type_1 Cholestasis, intrahepatic, of pregnancy, 1;Progressive familial intrahepatic cholestasis type 1;Benign recurrent intrahepatic cholestasis type 1 Supplemental_disease_name DISEASE_NAME:cholestasis_intrahepatic_of_pregnancy_3 Cholestasis, intrahepatic, of pregnancy, 3 Supplemental_disease_name DISEASE_NAME:cholestasis_intrahepatic_of_pregnancy_3_low_phospholipid_associated_cholelithiasis_progressive_familial_intrahepatic_cholestasis_type_3 Cholestasis, intrahepatic, of pregnancy, 3;Low phospholipid associated cholelithiasis;Progressive familial intrahepatic cholestasis type 3 Supplemental_disease_name DISEASE_NAME:cholestasis_intrahepatic_of_pregnancy_3_progressive_familial_intrahepatic_cholestasis_type_3 Cholestasis, intrahepatic, of pregnancy, 3;Progressive familial intrahepatic cholestasis type 3 Supplemental_disease_name DISEASE_NAME:cholestasis_intrahepatic_of_pregnancy_3_progressive_familial_intrahepatic_cholestasis_type_3_low_phospholipid_associated_cholelithiasis Cholestasis, intrahepatic, of pregnancy, 3;Progressive familial intrahepatic cholestasis type 3;Low phospholipid associated cholelithiasis Supplemental_disease_name DISEASE_NAME:cholestasis_pigmentary_retinopathy_cleft_palate_syndrome Cholestasis-pigmentary retinopathy-cleft palate syndrome Supplemental_disease_name DISEASE_NAME:cholestasis_pigmentary_retinopathy_cleft_palate_syndrome_blepharophimosis_intellectual_disability_syndrome_mkb_type_x_linked_intellectual_disability_with_marfanoid_habitus_fg_syndrome_1 Cholestasis-pigmentary retinopathy-cleft palate syndrome;Blepharophimosis - intellectual disability syndrome, MKB type;X-linked intellectual disability with marfanoid habitus;FG syndrome 1 Supplemental_disease_name DISEASE_NAME:cholestasis_pigmentary_retinopathy_cleft_palate_syndrome_fg_syndrome_1_x_linked_intellectual_disability_with_marfanoid_habitus_blepharophimosis_intellectual_disability_syndrome_mkb_type Cholestasis-pigmentary retinopathy-cleft palate syndrome;FG syndrome 1;X-linked intellectual disability with marfanoid habitus;Blepharophimosis - intellectual disability syndrome, MKB type Supplemental_disease_name DISEASE_NAME:cholestasis_pigmentary_retinopathy_cleft_palate_syndrome_x_linked_intellectual_disability_with_marfanoid_habitus_blepharophimosis_intellectual_disability_syndrome_mkb_type_fg_syndrome_1 Cholestasis-pigmentary retinopathy-cleft palate syndrome;X-linked intellectual disability with marfanoid habitus;Blepharophimosis - intellectual disability syndrome, MKB type;FG syndrome 1 Supplemental_disease_name DISEASE_NAME:cholestasis_pigmentary_retinopathy_cleft_palate_syndrome_x_linked_intellectual_disability_with_marfanoid_habitus_fg_syndrome_1_blepharophimosis_intellectual_disability_syndrome_mkb_type Cholestasis-pigmentary retinopathy-cleft palate syndrome;X-linked intellectual disability with marfanoid habitus;FG syndrome 1;Blepharophimosis - intellectual disability syndrome, MKB type Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_10 Cholestasis, progressive familial intrahepatic, 10 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_10_congenital_microvillous_atrophy Cholestasis, progressive familial intrahepatic, 10;Congenital microvillous atrophy Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_11 Cholestasis, progressive familial intrahepatic, 11 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_12 Cholestasis, progressive familial intrahepatic, 12 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_12_arthrogryposis_renal_dysfunction_and_cholestasis_1_keratoderma_ichthyosis_deafness_syndrome_autosomal_recessive Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_12_keratoderma_ichthyosis_deafness_syndrome_autosomal_recessive_arthrogryposis_renal_dysfunction_and_cholestasis_1 Cholestasis, progressive familial intrahepatic, 12;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Arthrogryposis, renal dysfunction, and cholestasis 1 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_13 Cholestasis, progressive familial intrahepatic, 13 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_4 Cholestasis, progressive familial intrahepatic, 4 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_4_hypercholanemia_familial_1 Cholestasis, progressive familial intrahepatic, 4;Hypercholanemia, familial 1 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_5 Cholestasis, progressive familial intrahepatic, 5 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_6 Cholestasis, progressive familial intrahepatic, 6 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_7_with_or_without_hearing_loss Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_8 Cholestasis, progressive familial intrahepatic, 8 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_9 Cholestasis, progressive familial intrahepatic, 9 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_pfic4_like Cholestasis, progressive familial intrahepatic, (PFIC4-like) Supplemental_disease_name DISEASE_NAME:cholestatic_liver_disease Cholestatic liver disease Supplemental_disease_name DISEASE_NAME:cholesteryl_ester_storage_disease Cholesteryl ester storage disease Supplemental_disease_name DISEASE_NAME:cholesteryl_ester_storage_disease_wolman_disease Cholesteryl ester storage disease;Wolman disease Supplemental_disease_name DISEASE_NAME:chondrocalcinosis_2 Chondrocalcinosis 2 Supplemental_disease_name DISEASE_NAME:chondrocalcinosis_2_craniometaphyseal_dysplasia_autosomal_dominant Chondrocalcinosis 2;Craniometaphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:chondrocalcinosis_2_sporadic CHONDROCALCINOSIS 2, SPORADIC Supplemental_disease_name DISEASE_NAME:chondrodysplasia_blomstrand_type_eiken_syndrome Chondrodysplasia Blomstrand type;Eiken syndrome Supplemental_disease_name DISEASE_NAME:chondrodysplasia_blomstrand_type_eiken_syndrome_primary_failure_of_tooth_eruption_metaphyseal_chondrodysplasia_jansen_type Chondrodysplasia Blomstrand type;Eiken syndrome;Primary failure of tooth eruption;Metaphyseal chondrodysplasia, Jansen type Supplemental_disease_name DISEASE_NAME:chondrodysplasia_blomstrand_type_primary_failure_of_tooth_eruption_eiken_syndrome_metaphyseal_chondrodysplasia_jansen_type Chondrodysplasia Blomstrand type;Primary failure of tooth eruption;Eiken syndrome;Metaphyseal chondrodysplasia, Jansen type Supplemental_disease_name DISEASE_NAME:chondrodysplasia_brachydactyly_clino_symphalangism_overriding_digits_synpolydactyly_type_1 Chondrodysplasia;Brachydactyly;clino-symphalangism;overriding digits;Synpolydactyly type 1 Supplemental_disease_name DISEASE_NAME:chondrodysplasia_punctata_2_x_linked_dominant Chondrodysplasia punctata 2 X-linked dominant Supplemental_disease_name DISEASE_NAME:chondrodysplasia_punctata_2_x_linked_dominant_atypical CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL Supplemental_disease_name DISEASE_NAME:chondrodysplasia_punctata_2_x_linked_dominant_mend_syndrome Chondrodysplasia punctata 2 X-linked dominant;MEND syndrome Supplemental_disease_name DISEASE_NAME:chondrodysplasia_punctata_brachytelephalangic_autosomal Chondrodysplasia punctata, brachytelephalangic, autosomal Supplemental_disease_name DISEASE_NAME:chondrosarcoma_exostoses_multiple_type_1 Chondrosarcoma;Exostoses, multiple, type 1 Supplemental_disease_name DISEASE_NAME:chopra_amiel_gordon_syndrome Chopra-Amiel-Gordon syndrome Supplemental_disease_name DISEASE_NAME:chops_syndrome Chops syndrome Supplemental_disease_name DISEASE_NAME:chorea_cerebellar_ataxia_amyotrophic_lateral_sclerosis Chorea;Cerebellar ataxia;Amyotrophic lateral sclerosis Supplemental_disease_name DISEASE_NAME:chorea_childhood_onset_with_psychomotor_retardation Chorea, childhood-onset, with psychomotor retardation Supplemental_disease_name DISEASE_NAME:chorea_progressive_encephalopathy_seizure Chorea;Progressive encephalopathy;Seizure Supplemental_disease_name DISEASE_NAME:choreoacanthocytosis Choreoacanthocytosis Supplemental_disease_name DISEASE_NAME:choreoathetosis Choreoathetosis Supplemental_disease_name DISEASE_NAME:choreoathetosis_febrile_seizure_within_the_age_range_of_3_months_to_6_years_global_developmental_delay_leukoencephalopathy Choreoathetosis;Febrile seizure (within the age range of 3 months to 6 years);Global developmental delay;Leukoencephalopathy Supplemental_disease_name DISEASE_NAME:choreoathetosis_global_developmental_delay_dyskinesia_hypotonia Choreoathetosis;Global developmental delay;Dyskinesia;Hypotonia Supplemental_disease_name DISEASE_NAME:chorioretinal_coloboma Chorioretinal coloboma Supplemental_disease_name DISEASE_NAME:chorioretinal_coloboma_pulmonary_artery_atresia_retinal_coloboma_hearing_impairment Chorioretinal coloboma;Pulmonary artery atresia;Retinal coloboma;Hearing impairment Supplemental_disease_name DISEASE_NAME:choroidal_dystrophy_central_areolar_1 Choroidal dystrophy, central areolar, 1 Supplemental_disease_name DISEASE_NAME:choroidal_dystrophy_central_areolar_1_cone_rod_dystrophy_6_leber_congenital_amaurosis_1_night_blindness_congenital_stationary_type1i Choroidal dystrophy, central areolar, 1;Cone-rod dystrophy 6;Leber congenital amaurosis 1;Night blindness, congenital stationary, type1i Supplemental_disease_name DISEASE_NAME:choroidal_dystrophy_central_areolar_1_cone_rod_dystrophy_6_night_blindness_congenital_stationary_type1i_leber_congenital_amaurosis_1 Choroidal dystrophy, central areolar, 1;Cone-rod dystrophy 6;Night blindness, congenital stationary, type1i;Leber congenital amaurosis 1 Supplemental_disease_name DISEASE_NAME:choroidal_dystrophy_central_areolar_2 Choroidal dystrophy, central areolar 2 Supplemental_disease_name DISEASE_NAME:choroidal_dystrophy_central_areolar_2_retinitis_pigmentosa_7_patterned_macular_dystrophy_1_pigmentary_retinal_dystrophy_vitelliform_macular_dystrophy_3 Choroidal dystrophy, central areolar 2;Retinitis pigmentosa 7;Patterned macular dystrophy 1;Pigmentary retinal dystrophy;Vitelliform macular dystrophy 3 Supplemental_disease_name DISEASE_NAME:choroideremia_salla_type Choroideremia, Salla type Supplemental_disease_name DISEASE_NAME:chp1_related_disorder CHP1-related disorder Supplemental_disease_name DISEASE_NAME:chrdl1_related_disorder CHRDL1-related disorder Supplemental_disease_name DISEASE_NAME:chrm1_related_neurodevelopmental_disorder CHRM1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:chrm2_related_disorder CHRM2-related disorder Supplemental_disease_name DISEASE_NAME:chrm3_related_disorder CHRM3-related disorder Supplemental_disease_name DISEASE_NAME:chrna1_related_congenital_myasthenic_syndrome CHRNA1-Related Congenital Myasthenic Syndrome Supplemental_disease_name DISEASE_NAME:chrna1_related_disorder CHRNA1-related disorder Supplemental_disease_name DISEASE_NAME:chrna2_related_disorder CHRNA2-related disorder Supplemental_disease_name DISEASE_NAME:chrna3_related_disorder CHRNA3-related disorder Supplemental_disease_name DISEASE_NAME:chrna4_related_disorder CHRNA4-related disorder Supplemental_disease_name DISEASE_NAME:chrna5_related_condition CHRNA5-related condition Supplemental_disease_name DISEASE_NAME:chrna7_related_disorder CHRNA7-related disorder Supplemental_disease_name DISEASE_NAME:chrna7_related_neurodevelopmental_condition CHRNA7-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:chrnb1_related_disorder CHRNB1-related disorder Supplemental_disease_name DISEASE_NAME:chrnb2_related_disorder CHRNB2-related disorder Supplemental_disease_name DISEASE_NAME:chrnd_related_disorder CHRND-related disorder Supplemental_disease_name DISEASE_NAME:chrne_related_disorder CHRNE-related disorder Supplemental_disease_name DISEASE_NAME:chrng_associated_hypo_akinesia_disorder_of_prenatal_onset CHRNG-associated hypo-akinesia disorder of prenatal onset Supplemental_disease_name DISEASE_NAME:chrng_related_disorder CHRNG-related disorder Supplemental_disease_name DISEASE_NAME:chromatinopathy Chromatinopathy Supplemental_disease_name DISEASE_NAME:chromosomal_instability_with_tissue_specific_radiosensitivity Chromosomal instability with tissue-specific radiosensitivity Supplemental_disease_name DISEASE_NAME:chromosome_13q33_q34_deletion_syndrome Chromosome 13q33-q34 deletion syndrome Supplemental_disease_name DISEASE_NAME:chromosome_16_trisomy Chromosome 16 trisomy Supplemental_disease_name DISEASE_NAME:chromosome_16p12_1_deletion_syndrome_520kb Chromosome 16p12.1 deletion syndrome, 520kb Supplemental_disease_name DISEASE_NAME:chromosome_16q12_duplication_syndrome Chromosome 16q12 duplication syndrome Supplemental_disease_name DISEASE_NAME:chromosome_17p13_3_telomeric_duplication_syndrome Chromosome 17P13.3, telomeric, duplication syndrome Supplemental_disease_name DISEASE_NAME:chromosome_17q11_2_deletion_syndrome_1_4mb Chromosome 17q11.2 deletion syndrome, 1.4Mb Supplemental_disease_name DISEASE_NAME:chromosome_17q11_2_deletion_syndrome_1_4mb_neurofibromatosis_type_1_due_to_nf1_mutation_or_intragenic_deletion Chromosome 17q11.2 deletion syndrome, 1.4Mb;Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Supplemental_disease_name DISEASE_NAME:chromosome_19q13_11_deletion_syndrome_distal Chromosome 19q13.11 deletion syndrome, distal Supplemental_disease_name DISEASE_NAME:chromosome_1p36_deletion_syndrome_proximal Chromosome 1p36 deletion syndrome, proximal Supplemental_disease_name DISEASE_NAME:chromosome_1q21_1_deletion_syndrome_atrial_standstill_1_atrial_fibrillation_familial_11 Chromosome 1q21.1 deletion syndrome;Atrial standstill 1;Atrial fibrillation, familial, 11 Supplemental_disease_name DISEASE_NAME:chromosome_1q21_1_deletion_syndrome_cataract_1_multiple_types Chromosome 1q21.1 deletion syndrome;Cataract 1 multiple types Supplemental_disease_name DISEASE_NAME:chromosome_22q11_2_microduplication_syndrome_cat_eye_syndrome Chromosome 22q11.2 microduplication syndrome;Cat eye syndrome Supplemental_disease_name DISEASE_NAME:chromosome_2p16_3_deletion_syndrome Chromosome 2p16.3 deletion syndrome Supplemental_disease_name DISEASE_NAME:chromosome_2p16_3_deletion_syndrome_pitt_hopkins_like_syndrome_2 Chromosome 2p16.3 deletion syndrome;Pitt-Hopkins-like syndrome 2 Supplemental_disease_name DISEASE_NAME:chromosome_2p25_3_deletion_syndrome Chromosome 2p25.3 deletion syndrome Supplemental_disease_name DISEASE_NAME:chromosome_2q23_1_deletion_syndrome Chromosome 2q23.1 deletion syndrome Supplemental_disease_name DISEASE_NAME:chromosome_2q37_deletion_syndrome_neurodevelopmental_disorder_with_central_hypotonia_and_dysmorphic_facies Chromosome 2q37 deletion syndrome;Neurodevelopmental disorder with central hypotonia and dysmorphic facies Supplemental_disease_name DISEASE_NAME:chromosome_5q14_3_deletion_syndrome_distal Chromosome 5Q14.3 deletion syndrome, distal Supplemental_disease_name DISEASE_NAME:chromosome_xq28_duplication_syndrome Chromosome Xq28 duplication syndrome Supplemental_disease_name DISEASE_NAME:chronic_and_progressive_ataxia Chronic and progressive ataxia Supplemental_disease_name DISEASE_NAME:chronic_diarrhea Chronic diarrhea Supplemental_disease_name DISEASE_NAME:chronic_fatigue_syndrome_with_infection_triggered_onset chronic fatigue syndrome with infection-triggered onset Supplemental_disease_name DISEASE_NAME:chronic_granulomatous_disease_williams_syndrome Chronic granulomatous disease;Williams syndrome Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurologic_cutaneous_and_articular_syndrome Chronic infantile neurologic cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1 Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness Chronic infantile neurological, cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria_familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Chronic infantile neurological, cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria;Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria Chronic infantile neurological, cutaneous and articular syndrome;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1 Chronic infantile neurological, cutaneous and articular syndrome;Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1 Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1 Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:chronic_intestinal_pseudoobstruction Chronic intestinal pseudoobstruction Supplemental_disease_name DISEASE_NAME:chronic_intestinal_pseudoobstruction_megacystis Chronic intestinal pseudoobstruction;Megacystis Supplemental_disease_name DISEASE_NAME:chronic_kidney_disease_elevated_mean_arterial_pressure_microscopic_hematuria Chronic kidney disease;Elevated mean arterial pressure;Microscopic hematuria Supplemental_disease_name DISEASE_NAME:chronic_mucocutaneous_candidiasis_disease Chronic mucocutaneous candidiasis disease Supplemental_disease_name DISEASE_NAME:chronic_myelogenous_leukemia_chronic_myeloid_leukemia Chronic myelogenous leukemia/chronic myeloid leukemia Supplemental_disease_name DISEASE_NAME:chronic_myeloid_leukemia_acute_lymphoid_leukemia Chronic myeloid leukemia;Acute lymphoid leukemia Supplemental_disease_name DISEASE_NAME:chronic_myeloid_leukemia_congenital_heart_defects_and_skeletal_malformations_syndrome Chronic myeloid leukemia;Congenital heart defects and skeletal malformations syndrome Supplemental_disease_name DISEASE_NAME:chronic_obstructive_pulmonary_disease_alpha_1_antitrypsin_deficiency Chronic obstructive pulmonary disease;Alpha-1-antitrypsin deficiency Supplemental_disease_name DISEASE_NAME:chronic_obstructive_pulmonary_disease_biomass_related Chronic obstructive pulmonary disease, biomass related Supplemental_disease_name DISEASE_NAME:chronic_obstructive_pulmonary_disease_chronic_diarrhea_decreased_circulating_immunoglobulin_concentration_immunodeficiency Chronic obstructive pulmonary disease;Chronic diarrhea;Decreased circulating immunoglobulin concentration;Immunodeficiency Supplemental_disease_name DISEASE_NAME:chronic_osteomyelitis Chronic osteomyelitis Supplemental_disease_name DISEASE_NAME:chronic_pancreatitis_cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Chronic pancreatitis;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:chronic_progressive_multiple_sclerosis Chronic progressive multiple sclerosis Supplemental_disease_name DISEASE_NAME:chronic_pulmonary_aspergillosis Chronic pulmonary aspergillosis Supplemental_disease_name DISEASE_NAME:chronic_recurrent_multifocal_osteomyelitis_3 Chronic recurrent multifocal osteomyelitis 3 Supplemental_disease_name DISEASE_NAME:chronic_sinusitis Chronic sinusitis Supplemental_disease_name DISEASE_NAME:chst11_related_disorder CHST11-related disorder Supplemental_disease_name DISEASE_NAME:chst14_related_disorder CHST14-related disorder Supplemental_disease_name DISEASE_NAME:chst3_related_disorder CHST3-related disorder Supplemental_disease_name DISEASE_NAME:chst6_related_disorder CHST6-related disorder Supplemental_disease_name DISEASE_NAME:chst8_related_disorder CHST8-related disorder Supplemental_disease_name DISEASE_NAME:chsy1_related_disorder CHSY1-related disorder Supplemental_disease_name DISEASE_NAME:chudley_mccullough_syndrome Chudley-McCullough syndrome Supplemental_disease_name DISEASE_NAME:chuk_related_disorder CHUK-related disorder Supplemental_disease_name DISEASE_NAME:chung_jansen_syndrome Chung Jansen syndrome Supplemental_disease_name DISEASE_NAME:chuvash_polycythemia_nonpapillary_renal_cell_carcinoma_von_hippel_lindau_syndrome_pheochromocytoma Chuvash polycythemia;Nonpapillary renal cell carcinoma;Von Hippel-Lindau syndrome;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:chuvash_polycythemia_pheochromocytoma_nonpapillary_renal_cell_carcinoma_von_hippel_lindau_syndrome Chuvash polycythemia;Pheochromocytoma;Nonpapillary renal cell carcinoma;Von Hippel-Lindau syndrome Supplemental_disease_name DISEASE_NAME:chuvash_polycythemia_pheochromocytoma_von_hippel_lindau_syndrome_nonpapillary_renal_cell_carcinoma Chuvash polycythemia;Pheochromocytoma;Von Hippel-Lindau syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:chuvash_polycythemia_von_hippel_lindau_syndrome Chuvash polycythemia;Von Hippel-Lindau syndrome Supplemental_disease_name DISEASE_NAME:chuvash_polycythemia_von_hippel_lindau_syndrome_nonpapillary_renal_cell_carcinoma_pheochromocytoma Chuvash polycythemia;Von Hippel-Lindau syndrome;Nonpapillary renal cell carcinoma;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:chuvash_polycythemia_von_hippel_lindau_syndrome_pheochromocytoma_nonpapillary_renal_cell_carcinoma Chuvash polycythemia;Von Hippel-Lindau syndrome;Pheochromocytoma;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:chédiak_higashi_syndrome Chédiak-Higashi syndrome Supplemental_disease_name DISEASE_NAME:cib1_related_disorder CIB1-related disorder Supplemental_disease_name DISEASE_NAME:cib2_related_disorder CIB2-related disorder Supplemental_disease_name DISEASE_NAME:cibar1_related_disorder CIBAR1-related disorder Supplemental_disease_name DISEASE_NAME:cibar2_related_disorder CIBAR2-related disorder Supplemental_disease_name DISEASE_NAME:cic_related_disorder CIC-related disorder Supplemental_disease_name DISEASE_NAME:cic_related_neurodevelopmental_disorders CIC-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:cidec_related_disorder CIDEC-related disorder Supplemental_disease_name DISEASE_NAME:cidec_related_familial_partial_lipodystrophy CIDEC-related familial partial lipodystrophy Supplemental_disease_name DISEASE_NAME:ciita_related_disorder CIITA-related disorder Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_36_x_linked Ciliary dyskinesia, primary, 36, X-linked Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_37 Ciliary dyskinesia, primary, 37 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_37_oligosynaptic_infertility Ciliary dyskinesia, primary, 37;Oligosynaptic infertility Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_37_spermatogenic_failure_18 Ciliary dyskinesia, primary, 37;Spermatogenic failure 18 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_38 Ciliary dyskinesia, primary, 38 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_39 Ciliary dyskinesia, primary, 39 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_40 Ciliary dyskinesia, primary, 40 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_41 Ciliary dyskinesia, primary, 41 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_42 Ciliary dyskinesia, primary, 42 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_43 Ciliary dyskinesia, primary, 43 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_44 Ciliary dyskinesia, primary, 44 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_45 Ciliary dyskinesia, primary, 45 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_46 Ciliary dyskinesia, primary, 46 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_47_and_lissencephaly Ciliary dyskinesia, primary, 47, and lissencephaly Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_48_without_situs_inversus Ciliary dyskinesia, primary, 48, without situs inversus Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_49_without_situs_inversus Ciliary dyskinesia, primary, 49, without situs inversus Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_50 Ciliary dyskinesia, primary, 50 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_51 Ciliary dyskinesia, primary, 51 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_52 Ciliary dyskinesia, primary, 52 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_53 Ciliary dyskinesia, primary, 53 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_54 Ciliary dyskinesia, primary, 54 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_54_spermatogenic_failure_98 Ciliary dyskinesia, primary, 54;Spermatogenic failure 98 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_7_with_situs_inversus CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS Supplemental_disease_name DISEASE_NAME:ciliary_neurotrophic_factor_polymorphism CILIARY NEUROTROPHIC FACTOR POLYMORPHISM Supplemental_disease_name DISEASE_NAME:cilk1_related_disorder CILK1-related disorder Supplemental_disease_name DISEASE_NAME:cilp_related_disorder CILP-related disorder Supplemental_disease_name DISEASE_NAME:cimdag_syndrome CIMDAG syndrome Supplemental_disease_name DISEASE_NAME:cip1_waf1_tumor_associated_polymorphism_1 CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 Supplemental_disease_name DISEASE_NAME:cirop_related_disorder CIROP-related disorder Supplemental_disease_name DISEASE_NAME:cirrhosis_cryptogenic Cirrhosis, cryptogenic Supplemental_disease_name DISEASE_NAME:cirrhosis_familial Cirrhosis, familial Supplemental_disease_name DISEASE_NAME:cirrhosis_noncryptogenic_susceptibility_to Cirrhosis, noncryptogenic, susceptibility to Supplemental_disease_name DISEASE_NAME:cisd2_related_disorder CISD2-related disorder Supplemental_disease_name DISEASE_NAME:cish_related_disorder CISH-related disorder Supplemental_disease_name DISEASE_NAME:cit_related_disorder CIT-related disorder Supplemental_disease_name DISEASE_NAME:cited2_related_disorder CITED2-related disorder Supplemental_disease_name DISEASE_NAME:citrin_deficiency_neonatal_onset CITRIN DEFICIENCY, NEONATAL ONSET Supplemental_disease_name DISEASE_NAME:citrullinemia_mild Citrullinemia, mild Supplemental_disease_name DISEASE_NAME:citrullinemia_type_i Citrullinemia type I Supplemental_disease_name DISEASE_NAME:citrullinemia_type_ii Citrullinemia type II Supplemental_disease_name DISEASE_NAME:citrullinemia_type_ii_adult_onset Citrullinemia, type II, adult-onset Supplemental_disease_name DISEASE_NAME:citrullinemia_type_ii_adult_onset_neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency Citrullinemia, type II, adult-onset;Neonatal intrahepatic cholestasis due to citrin deficiency Supplemental_disease_name DISEASE_NAME:citrullinemia_type_ii_neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency Citrullinemia type II;Neonatal intrahepatic cholestasis due to citrin deficiency Supplemental_disease_name DISEASE_NAME:ciz1_related_disorder CIZ1-related disorder Supplemental_disease_name DISEASE_NAME:ck_syndrome_child_syndrome CK syndrome;Child syndrome Supplemental_disease_name DISEASE_NAME:ckap2l_related_disorder CKAP2L-related disorder Supplemental_disease_name DISEASE_NAME:clapo_syndrome CLAPO syndrome Supplemental_disease_name DISEASE_NAME:clasp1_related_disorder CLASP1-related disorder Supplemental_disease_name DISEASE_NAME:clasp2_related_disorder CLASP2-related disorder Supplemental_disease_name DISEASE_NAME:classic_dopamine_transporter_deficiency_syndrome_tobacco_addiction_susceptibility_to Classic dopamine transporter deficiency syndrome;Tobacco addiction, susceptibility to Supplemental_disease_name DISEASE_NAME:classic_hodgkin_lymphoma Classic Hodgkin lymphoma Supplemental_disease_name DISEASE_NAME:classic_homocystinuria Classic homocystinuria Supplemental_disease_name DISEASE_NAME:classic_lissencephaly Classic lissencephaly Supplemental_disease_name DISEASE_NAME:classic_medulloblastoma Classic medulloblastoma Supplemental_disease_name DISEASE_NAME:classic_or_attenuated_familial_adenomatous_polyposis Classic or attenuated familial adenomatous polyposis Supplemental_disease_name DISEASE_NAME:classical_galactosemia_homozygous_duarte_type Classical galactosemia, homozygous Duarte-type Supplemental_disease_name DISEASE_NAME:classical_hodgkin_lymphoma Classical Hodgkin lymphoma Supplemental_disease_name DISEASE_NAME:classical_primary_microcephaly Classical primary microcephaly Supplemental_disease_name DISEASE_NAME:clcf1_related_disorder CLCF1-related disorder Supplemental_disease_name DISEASE_NAME:clcn1_related_disorder CLCN1-related disorder Supplemental_disease_name DISEASE_NAME:clcn1_related_myotonia_congenita CLCN1-related myotonia congenita Supplemental_disease_name DISEASE_NAME:clcn2_related_disorder CLCN2-related disorder Supplemental_disease_name DISEASE_NAME:clcn3_related_disorder CLCN3-related disorder Supplemental_disease_name DISEASE_NAME:clcn3_related_neurodevelopmental_disorders CLCN3-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:clcn4_related_disorder CLCN4-related disorder Supplemental_disease_name DISEASE_NAME:clcn5_related_disorder CLCN5-related disorder Supplemental_disease_name DISEASE_NAME:clcn6_related_disorder CLCN6-related disorder Supplemental_disease_name DISEASE_NAME:clcn7_related_disorder CLCN7-related disorder Supplemental_disease_name DISEASE_NAME:cldn10_related_disorder CLDN10-related disorder Supplemental_disease_name DISEASE_NAME:cldn14_related_disorder CLDN14-related disorder Supplemental_disease_name DISEASE_NAME:cldn16_related_disorder CLDN16-related disorder Supplemental_disease_name DISEASE_NAME:cldn19_related_disorder CLDN19-related disorder Supplemental_disease_name DISEASE_NAME:cldn1_related_disorder CLDN1-related disorder Supplemental_disease_name DISEASE_NAME:cldn5_associated_neurodevelopmental_disorder CLDN5-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cldn5_deficiency CLDN5 deficiency Supplemental_disease_name DISEASE_NAME:cldn5_related_hemiplegia_microcephaly_and_brain_calcification CLDN5-related hemiplegia, microcephaly and brain calcification Supplemental_disease_name DISEASE_NAME:cldn5_related_neurodevelopmental_disorder CLDN5-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cldn9_related_disorder CLDN9-related disorder Supplemental_disease_name DISEASE_NAME:clear_cell_kidney_cancer Clear cell kidney cancer Supplemental_disease_name DISEASE_NAME:clec7a_related_disorder CLEC7A-related disorder Supplemental_disease_name DISEASE_NAME:cleft_lip_and_palate_craniofacial_dysmorphism_congenital_heart_defect_hearing_loss_syndrome Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome Supplemental_disease_name DISEASE_NAME:cleft_lip_ectopic_scrotum_neurodevelopmental_delay_corpus_callosum_agenesis_of Cleft lip;Ectopic scrotum;Neurodevelopmental delay;Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:cleft_lip_palate Cleft lip/palate Supplemental_disease_name DISEASE_NAME:cleft_lip_with_or_without_cleft_palate Cleft lip with or without cleft palate Supplemental_disease_name DISEASE_NAME:cleft_palate_astrocytoma_cleft_lip Cleft palate;Astrocytoma;Cleft lip Supplemental_disease_name DISEASE_NAME:cleft_palate_intellectual_disability_cleft_lip Cleft palate;Intellectual disability;Cleft lip Supplemental_disease_name DISEASE_NAME:cleft_palate_orofacial_cleft Cleft palate;Orofacial cleft Supplemental_disease_name DISEASE_NAME:cleft_palate_proliferative_retinopathy_and_developmental_delay Cleft palate, proliferative retinopathy, and developmental delay Supplemental_disease_name DISEASE_NAME:cleft_palate_psychomotor_retardation_and_distinctive_facial_features Cleft palate, psychomotor retardation, and distinctive facial features Supplemental_disease_name DISEASE_NAME:cleft_palate_tetralogy_of_fallot_microcephaly Cleft palate;Tetralogy of Fallot;Microcephaly Supplemental_disease_name DISEASE_NAME:cleft_palate_with_ankyloglossia Cleft palate with ankyloglossia Supplemental_disease_name DISEASE_NAME:cleft_palate_with_or_without_ankyloglossia_x_linked Cleft palate with or without ankyloglossia, X-linked Supplemental_disease_name DISEASE_NAME:cleidocranial_dysostosis_metaphyseal_dysplasia_maxillary_hypoplasia_brachydacty_syndrome Cleidocranial dysostosis;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Supplemental_disease_name DISEASE_NAME:cleidocranial_dysplasia_1_forme_fruste_dental_anomalies_only Cleidocranial dysplasia 1, forme fruste, dental anomalies only Supplemental_disease_name DISEASE_NAME:cleidocranial_dysplasia_1_forme_fruste_with_brachydactyly Cleidocranial dysplasia 1, forme fruste, with brachydactyly Supplemental_disease_name DISEASE_NAME:cleidocranial_dysplasia_2 Cleidocranial dysplasia 2 Supplemental_disease_name DISEASE_NAME:clic2_related_disorder CLIC2-related disorder Supplemental_disease_name DISEASE_NAME:clic5_related_disorder CLIC5-related disorder Supplemental_disease_name DISEASE_NAME:clinodactyly_abnormality_of_the_face_moderate_intellectual_disability_macrocephaly_short_5th_metacarpal Clinodactyly;Abnormality of the face;Moderate intellectual disability;Macrocephaly;Short 5th metacarpal Supplemental_disease_name DISEASE_NAME:clinodactyly_of_the_4th_toe_moderate_global_developmental_delay_abnormal_facial_shape_clinodactyly_of_the_5th_finger_autistic_behavior Clinodactyly of the 4th toe;Moderate global developmental delay;Abnormal facial shape;Clinodactyly of the 5th finger;Autistic behavior Supplemental_disease_name DISEASE_NAME:clip1_related_disorder CLIP1-related disorder Supplemental_disease_name DISEASE_NAME:clip1_related_intellectual_disability CLIP1-related intellectual disability Supplemental_disease_name DISEASE_NAME:clmn_related_disorder CLMN-related disorder Supplemental_disease_name DISEASE_NAME:clmp_related_disorder CLMP-related disorder Supplemental_disease_name DISEASE_NAME:cln3_related_disorder CLN3-related disorder Supplemental_disease_name DISEASE_NAME:cln5_related_disorder CLN5-related disorder Supplemental_disease_name DISEASE_NAME:cln6_related_disorder CLN6-related disorder Supplemental_disease_name DISEASE_NAME:cln8_related_disorder CLN8-related disorder Supplemental_disease_name DISEASE_NAME:clnk_related_disorder CLNK-related disorder Supplemental_disease_name DISEASE_NAME:clonal_cytopenia_of_undetermined_significance Clonal Cytopenia of Undetermined Significance Supplemental_disease_name DISEASE_NAME:clonal_hematopoiesis Clonal hematopoiesis Supplemental_disease_name DISEASE_NAME:clopidogrel_response Clopidogrel response Supplemental_disease_name DISEASE_NAME:clopidogrel_response_efficacy clopidogrel response - Efficacy Supplemental_disease_name DISEASE_NAME:clopidogrel_response_metabolism_pk clopidogrel response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:clp1_related_disorder CLP1-related disorder Supplemental_disease_name DISEASE_NAME:clpb_related_disorder CLPB-related disorder Supplemental_disease_name DISEASE_NAME:clpp_related_disorder CLPP-related disorder Supplemental_disease_name DISEASE_NAME:clptm1_related_disorder CLPTM1-related disorder Supplemental_disease_name DISEASE_NAME:clptm1l_related_disorder CLPTM1L-related disorder Supplemental_disease_name DISEASE_NAME:clpx_related_disorder CLPX-related disorder Supplemental_disease_name DISEASE_NAME:clrn1_related_disorder CLRN1-related disorder Supplemental_disease_name DISEASE_NAME:clrn2_related_disorder CLRN2-related disorder Supplemental_disease_name DISEASE_NAME:cltc_related_disorder CLTC-related disorder Supplemental_disease_name DISEASE_NAME:cltcl1_related_disorder CLTCL1-related disorder Supplemental_disease_name DISEASE_NAME:clu_related_disorder CLU-related disorder Supplemental_disease_name DISEASE_NAME:cluap1_related_disorder CLUAP1-related disorder Supplemental_disease_name DISEASE_NAME:clubfoot_cystic_renal_dysplasia_abnormal_finger_morphology_abnormality_of_the_face_renal_cyst Clubfoot;Cystic renal dysplasia;Abnormal finger morphology;Abnormality of the face;Renal cyst Supplemental_disease_name DISEASE_NAME:clubfoot_emg_abnormality_lower_limb_amyotrophy Clubfoot;EMG abnormality;Lower limb amyotrophy Supplemental_disease_name DISEASE_NAME:cmip_related_disorder CMIP-related disorder Supplemental_disease_name DISEASE_NAME:cmip_related_neurodevelopmental_disorder CMIP-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cmpk2_related_disorder CMPK2-related disorder Supplemental_disease_name DISEASE_NAME:cmss1_related_disorder CMSS1-related disorder Supplemental_disease_name DISEASE_NAME:cnbp_related_disorder CNBP-related disorder Supplemental_disease_name DISEASE_NAME:cndp1_related_disorder CNDP1-related disorder Supplemental_disease_name DISEASE_NAME:cnga1_related_disorder CNGA1-related disorder Supplemental_disease_name DISEASE_NAME:cnga1_related_retinopathy CNGA1-related retinopathy Supplemental_disease_name DISEASE_NAME:cnga3_related_disorder CNGA3-related disorder Supplemental_disease_name DISEASE_NAME:cnga3_related_retinopathy CNGA3-related retinopathy Supplemental_disease_name DISEASE_NAME:cngb1_related_disorder CNGB1-related disorder Supplemental_disease_name DISEASE_NAME:cngb1_related_retinopathy CNGB1-related retinopathy Supplemental_disease_name DISEASE_NAME:cngb3_related_disorder CNGB3-related disorder Supplemental_disease_name DISEASE_NAME:cngb3_related_retinopathy CNGB3-related retinopathy Supplemental_disease_name DISEASE_NAME:cnksr1_related_disorder CNKSR1-related disorder Supplemental_disease_name DISEASE_NAME:cnksr2_related_disorder CNKSR2-related disorder Supplemental_disease_name DISEASE_NAME:cnnm2_related_disorder CNNM2-related disorder Supplemental_disease_name DISEASE_NAME:cnnm2_related_disorders CNNM2-Related Disorders Supplemental_disease_name DISEASE_NAME:cnnm2_related_neurodevelopmental_disorder_and_hypomagnesemia CNNM2-related neurodevelopmental disorder and hypomagnesemia Supplemental_disease_name DISEASE_NAME:cnnm4_related_disorder CNNM4-related disorder Supplemental_disease_name DISEASE_NAME:cnot1_related_disorder CNOT1-related disorder Supplemental_disease_name DISEASE_NAME:cnot2_related_disorder CNOT2-related disorder Supplemental_disease_name DISEASE_NAME:cnot3_associated_disorder CNOT3-associated disorder Supplemental_disease_name DISEASE_NAME:cnot3_related_disorder CNOT3-related disorder Supplemental_disease_name DISEASE_NAME:cnot9_associated_neurodevelopmental_disorder CNOT9-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cnot9_related_disorder CNOT9-related disorder Supplemental_disease_name DISEASE_NAME:cnp_related_disorder CNP-related disorder Supplemental_disease_name DISEASE_NAME:cnpy3_related_disorder CNPY3-related disorder Supplemental_disease_name DISEASE_NAME:cnr1_related_disorder CNR1-related disorder Supplemental_disease_name DISEASE_NAME:cns_hypomyelination_brain_atrophy_microcephaly_hypoplasia_of_the_corpus_callosum_global_developmental_delay CNS hypomyelination;Brain atrophy;Microcephaly;Hypoplasia of the corpus callosum;Global developmental delay Supplemental_disease_name DISEASE_NAME:cntn1_related_disorder CNTN1-related disorder Supplemental_disease_name DISEASE_NAME:cntn2_related_disorder CNTN2-related disorder Supplemental_disease_name DISEASE_NAME:cntn3_related_disorder CNTN3-related disorder Supplemental_disease_name DISEASE_NAME:cntn4_associated_neurodevelopmental_disorder CNTN4-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cntn4_related_disorder CNTN4-related disorder Supplemental_disease_name DISEASE_NAME:cntn5_related_disorder CNTN5-related disorder Supplemental_disease_name DISEASE_NAME:cntn5_related_neurodevelopmental_disorder CNTN5-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:cntn6_related_disorder CNTN6-related disorder Supplemental_disease_name DISEASE_NAME:cntnap1_related_disorder CNTNAP1-related disorder Supplemental_disease_name DISEASE_NAME:cntnap2_related_disorder CNTNAP2-related disorder Supplemental_disease_name DISEASE_NAME:cntnap4_related_disorder CNTNAP4-related disorder Supplemental_disease_name DISEASE_NAME:cntnap5_associated_intellectual_disability CNTNAP5-associated intellectual disability Supplemental_disease_name DISEASE_NAME:cntnap5_related_disorder CNTNAP5-related disorder Supplemental_disease_name DISEASE_NAME:coa3_related_disorder COA3-related disorder Supplemental_disease_name DISEASE_NAME:coa6_related_disorder COA6-related disorder Supplemental_disease_name DISEASE_NAME:coa7_related_disorder COA7-related disorder Supplemental_disease_name DISEASE_NAME:coa8_related_disorder COA8-related disorder Supplemental_disease_name DISEASE_NAME:coach_syndrome_1 COACH syndrome 1 Supplemental_disease_name DISEASE_NAME:coach_syndrome_1_joubert_syndrome_6_meckel_syndrome_type_3_nephronophthisis_11_rhyns_syndrome COACH syndrome 1;Joubert syndrome 6;Meckel syndrome, type 3;Nephronophthisis 11;RHYNS syndrome Supplemental_disease_name DISEASE_NAME:coach_syndrome_1_joubert_syndrome_6_rhyns_syndrome_nephronophthisis_11 COACH syndrome 1;Joubert syndrome 6;RHYNS syndrome;Nephronophthisis 11 Supplemental_disease_name DISEASE_NAME:coach_syndrome_1_joubert_syndrome_9_meckel_syndrome_type_6 COACH syndrome 1;Joubert syndrome 9;Meckel syndrome, type 6 Supplemental_disease_name DISEASE_NAME:coach_syndrome_1_meckel_syndrome_type_6_joubert_syndrome_9 COACH syndrome 1;Meckel syndrome, type 6;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:coach_syndrome_2 COACH syndrome 2 Supplemental_disease_name DISEASE_NAME:coach_syndrome_2_joubert_syndrome_9_meckel_syndrome_type_6_retinitis_pigmentosa_93 COACH syndrome 2;Joubert syndrome 9;Meckel syndrome, type 6;Retinitis pigmentosa 93 Supplemental_disease_name DISEASE_NAME:coach_syndrome_2_joubert_syndrome_9_retinitis_pigmentosa_93_meckel_syndrome_type_6 COACH syndrome 2;Joubert syndrome 9;Retinitis pigmentosa 93;Meckel syndrome, type 6 Supplemental_disease_name DISEASE_NAME:coach_syndrome_2_meckel_syndrome_type_6_joubert_syndrome_9 COACH syndrome 2;Meckel syndrome, type 6;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:coach_syndrome_2_meckel_syndrome_type_6_joubert_syndrome_9_retinitis_pigmentosa_93 COACH syndrome 2;Meckel syndrome, type 6;Joubert syndrome 9;Retinitis pigmentosa 93 Supplemental_disease_name DISEASE_NAME:coach_syndrome_2_meckel_syndrome_type_6_retinitis_pigmentosa_93_joubert_syndrome_9 COACH syndrome 2;Meckel syndrome, type 6;Retinitis pigmentosa 93;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:coach_syndrome_2_retinitis_pigmentosa_93_joubert_syndrome_9_meckel_syndrome_type_6 COACH syndrome 2;Retinitis pigmentosa 93;Joubert syndrome 9;Meckel syndrome, type 6 Supplemental_disease_name DISEASE_NAME:coach_syndrome_2_retinitis_pigmentosa_93_meckel_syndrome_type_6_joubert_syndrome_9 COACH syndrome 2;Retinitis pigmentosa 93;Meckel syndrome, type 6;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:coach_syndrome_3 COACH syndrome 3 Supplemental_disease_name DISEASE_NAME:coach_syndrome_3_joubert_syndrome_7_meckel_syndrome_type_5 COACH syndrome 3;Joubert syndrome 7;Meckel syndrome, type 5 Supplemental_disease_name DISEASE_NAME:coach_syndrome_3_meckel_syndrome_type_5_joubert_syndrome_7 COACH syndrome 3;Meckel syndrome, type 5;Joubert syndrome 7 Supplemental_disease_name DISEASE_NAME:coagulation_factor_deficiency_syndrome Coagulation factor deficiency syndrome Supplemental_disease_name DISEASE_NAME:coarse_facial_features_hyperactivity_microcephaly_movement_disorder_intellectual_disability Coarse facial features;Hyperactivity;Microcephaly;Movement disorder;Intellectual disability Supplemental_disease_name DISEASE_NAME:coarse_facial_features_splenomegaly_decreased_total_neutrophil_count_peripheral_neuropathy Coarse facial features;Splenomegaly;Decreased total neutrophil count;Peripheral neuropathy Supplemental_disease_name DISEASE_NAME:coasy_related_disorder COASY-related disorder Supplemental_disease_name DISEASE_NAME:coasy_related_disorders COASY-Related Disorders Supplemental_disease_name DISEASE_NAME:coats_disease_familial_exudative_vitreoretinopathy Coats disease;Familial exudative vitreoretinopathy Supplemental_disease_name DISEASE_NAME:coats_plus_syndrome Coats plus syndrome Supplemental_disease_name DISEASE_NAME:cobalamin_c_disease Cobalamin C disease Supplemental_disease_name DISEASE_NAME:cobalamin_deficiency_megaloblastic_anemia Cobalamin deficiency;Megaloblastic anemia Supplemental_disease_name DISEASE_NAME:cobblestone_lissencephaly_without_muscular_or_ocular_involvement Cobblestone lissencephaly without muscular or ocular involvement Supplemental_disease_name DISEASE_NAME:cocaine_related_disorders Cocaine-Related Disorders Supplemental_disease_name DISEASE_NAME:coch_related_disorder COCH-related disorder Supplemental_disease_name DISEASE_NAME:cockayne_spectrum_with_or_without_cerebrooculofacioskeletal_syndrome Cockayne spectrum with or without cerebrooculofacioskeletal syndrome Supplemental_disease_name DISEASE_NAME:cockayne_syndrome_fanconi_anemia_complementation_group_q_xeroderma_pigmentosum_group_f Cockayne syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F Supplemental_disease_name DISEASE_NAME:cockayne_syndrome_type_1_uv_sensitive_syndrome_2 Cockayne syndrome type 1;UV-sensitive syndrome 2 Supplemental_disease_name DISEASE_NAME:cockayne_syndrome_type_2 Cockayne syndrome type 2 Supplemental_disease_name DISEASE_NAME:cockayne_syndrome_type_2_cerebrooculofacioskeletal_syndrome_1 Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1 Supplemental_disease_name DISEASE_NAME:cockayne_syndrome_type_2_de_sanctis_cacchione_syndrome_cerebrooculofacioskeletal_syndrome_1 Cockayne syndrome type 2;DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1 Supplemental_disease_name DISEASE_NAME:cockayne_syndrome_xeroderma_pigmentosum_group_f_fanconi_anemia_complementation_group_q Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q Supplemental_disease_name DISEASE_NAME:codeine_response Codeine response Supplemental_disease_name DISEASE_NAME:coenzyme_q10_deficiency Coenzyme Q10 deficiency Supplemental_disease_name DISEASE_NAME:coenzyme_q10_deficiency_primary_1 Coenzyme Q10 deficiency, primary, 1 Supplemental_disease_name DISEASE_NAME:coenzyme_q10_deficiency_primary_1_multiple_system_atrophy Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy Supplemental_disease_name DISEASE_NAME:coenzyme_q10_deficiency_primary_1_multiple_system_atrophy_1_susceptibility_to Coenzyme Q10 deficiency, primary, 1;Multiple system atrophy 1, susceptibility to Supplemental_disease_name DISEASE_NAME:coenzyme_q10_deficiency_primary_9 Coenzyme q10 deficiency, primary, 9 Supplemental_disease_name DISEASE_NAME:coffin_lowry_syndrome_intellectual_disability_x_linked_19 Coffin-Lowry syndrome;Intellectual disability, X-linked 19 Supplemental_disease_name DISEASE_NAME:coffin_siris_intellectual_disability Coffin Siris/Intellectual Disability Supplemental_disease_name DISEASE_NAME:coffin_siris_syndrome_1_nicolaides_baraitser_syndrome Coffin-Siris syndrome 1;Nicolaides-Baraitser syndrome Supplemental_disease_name DISEASE_NAME:coffin_siris_syndrome_5_familial_meningioma Coffin-Siris syndrome 5;Familial meningioma Supplemental_disease_name DISEASE_NAME:coffin_siris_syndrome_small_cell_carcinoma_of_the_ovary_hypercalcemic_type Coffin-Siris syndrome;Small cell carcinoma of the ovary, hypercalcemic type Supplemental_disease_name DISEASE_NAME:cog1_congenital_disorder_of_glycosylation COG1 congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:cog1_related_disorder COG1-related disorder Supplemental_disease_name DISEASE_NAME:cog2_related_disorder COG2-related disorder Supplemental_disease_name DISEASE_NAME:cog4_congenital_disorder_of_glycosylation COG4-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:cog4_congenital_disorder_of_glycosylation_microcephalic_osteodysplastic_dysplasia_saul_wilson_type COG4-congenital disorder of glycosylation;Microcephalic osteodysplastic dysplasia, Saul-Wilson type Supplemental_disease_name DISEASE_NAME:cog4_related_disorder COG4-related disorder Supplemental_disease_name DISEASE_NAME:cog4_related_disorders COG4-Related Disorders Supplemental_disease_name DISEASE_NAME:cog5_congenital_disorder_of_glycosylation COG5-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:cog5_related_disorder COG5-related disorder Supplemental_disease_name DISEASE_NAME:cog6_congenital_disorder_of_glycosylation COG6-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:cog6_congenital_disorder_of_glycosylation_hypohidrosis_enamel_hypoplasia_palmoplantar_keratoderma_intellectual_disability_syndrome COG6-congenital disorder of glycosylation;Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:cog6_related_disorder COG6-related disorder Supplemental_disease_name DISEASE_NAME:cog7_congenital_disorder_of_glycosylation COG7 congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:cog7_related_disorder COG7-related disorder Supplemental_disease_name DISEASE_NAME:cog8_congenital_disorder_of_glycosylation COG8-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:cog8_related_disorder COG8-related disorder Supplemental_disease_name DISEASE_NAME:cognitive_impairment Cognitive impairment Supplemental_disease_name DISEASE_NAME:cognitive_impairment_and_autistic_features_x_linked_recessive_mitochondrial_myopathy_lactic_acidosis Cognitive impairment and autistic features;X-­linked recessive mitochondrial myopathy;Lactic acidosis Supplemental_disease_name DISEASE_NAME:cognitive_impairment_coarse_facies_heart_defects_obesity_pulmonary_involvement_short_stature_skeletal_dysplasia_syndrome Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:cognitive_impairment_short_stature Cognitive impairment;Short stature Supplemental_disease_name DISEASE_NAME:cognitive_impairment_with_or_without_cerebellar_ataxia Cognitive impairment with or without cerebellar ataxia Supplemental_disease_name DISEASE_NAME:cognitive_impairment_with_or_without_cerebellar_ataxia_developmental_and_epileptic_encephalopathy_13 Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy, 13 Supplemental_disease_name DISEASE_NAME:cognitive_impairment_with_or_without_cerebellar_ataxia_developmental_and_epileptic_encephalopathy_13_seizures_benign_familial_infantile_5 Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy, 13;Seizures, benign familial infantile, 5 Supplemental_disease_name DISEASE_NAME:cognitive_impairment_with_or_without_cerebellar_ataxia_developmental_and_epileptic_encephalopathy_13_seizures_benign_familial_infantile_5_myoclonus_familial_2 Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy, 13;Seizures, benign familial infantile, 5;Myoclonus, familial, 2 Supplemental_disease_name DISEASE_NAME:cognitive_impairment_with_or_without_cerebellar_ataxia_myoclonus_familial_2_developmental_and_epileptic_encephalopathy_13_seizures_benign_familial_infantile_5 Cognitive impairment with or without cerebellar ataxia;Myoclonus, familial, 2;Developmental and epileptic encephalopathy, 13;Seizures, benign familial infantile, 5 Supplemental_disease_name DISEASE_NAME:cognitive_impairment_with_or_without_cerebellar_ataxia_seizures_benign_familial_infantile_5_myoclonus_familial_2_developmental_and_epileptic_encephalopathy_13 Cognitive impairment with or without cerebellar ataxia;Seizures, benign familial infantile, 5;Myoclonus, familial, 2;Developmental and epileptic encephalopathy, 13 Supplemental_disease_name DISEASE_NAME:cognitive_impairment_without_cerebellar_ataxia COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA Supplemental_disease_name DISEASE_NAME:cogwheel_rigidity_parkinsonian_disorder_rigidity_tremor Cogwheel rigidity;Parkinsonian disorder;Rigidity;Tremor Supplemental_disease_name DISEASE_NAME:cohen_gibson_syndrome Cohen-Gibson syndrome Supplemental_disease_name DISEASE_NAME:cohen_syndrome_high_myopia_early_onset Cohen syndrome;High myopia, early-onset Supplemental_disease_name DISEASE_NAME:col10a1_related_disorder COL10A1-related disorder Supplemental_disease_name DISEASE_NAME:col11a1_related_disorder COL11A1-related disorder Supplemental_disease_name DISEASE_NAME:col11a2_related_disorder COL11A2-related disorder Supplemental_disease_name DISEASE_NAME:col12a1_related_disorder COL12A1-related disorder Supplemental_disease_name DISEASE_NAME:col13a1_related_disorder COL13A1-related disorder Supplemental_disease_name DISEASE_NAME:col15a1_related_disorder COL15A1-related disorder Supplemental_disease_name DISEASE_NAME:col17a1_related_disorder COL17A1-related disorder Supplemental_disease_name DISEASE_NAME:col18a1_related_disorder COL18A1-related disorder Supplemental_disease_name DISEASE_NAME:col1a1_related_disorder COL1A1-related disorder Supplemental_disease_name DISEASE_NAME:col1a1_related_ehlers_danlos_syndrome COL1A1-related Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:col1a1_related_osteogenesis_imperfecta COL1A1-related osteogenesis imperfecta Supplemental_disease_name DISEASE_NAME:col1a2_related_disorder COL1A2-related disorder Supplemental_disease_name DISEASE_NAME:col1a2_related_osteogenesis_imperfecta COL1A2-related osteogenesis imperfecta Supplemental_disease_name DISEASE_NAME:col25a1_related_disorder COL25A1-related disorder Supplemental_disease_name DISEASE_NAME:col27a1_related_disorder COL27A1-related disorder Supplemental_disease_name DISEASE_NAME:col2a1_related_disorder COL2A1-related disorder Supplemental_disease_name DISEASE_NAME:col2a1_related_phenotype COL2A1-related phenotype Supplemental_disease_name DISEASE_NAME:col2a1_related_skeletal_disorder COL2A1-related skeletal disorder Supplemental_disease_name DISEASE_NAME:col2a1_related_skeletal_dysplasia COL2A1-related skeletal dysplasia Supplemental_disease_name DISEASE_NAME:col3a1_related_disorder COL3A1-related disorder Supplemental_disease_name DISEASE_NAME:col4a1_or_col4a2_related_cerebral_small_vessel_disease COL4A1 or COL4A2-related cerebral small vessel disease Supplemental_disease_name DISEASE_NAME:col4a1_related_disorder COL4A1-related disorder Supplemental_disease_name DISEASE_NAME:col4a2_related_cerebral_small_vessel_disease COL4A2-related cerebral small vessel disease Supplemental_disease_name DISEASE_NAME:col4a2_related_disorder COL4A2-related disorder Supplemental_disease_name DISEASE_NAME:col4a2_related_neurological_disorder COL4A2-related neurological disorder Supplemental_disease_name DISEASE_NAME:col4a3_related_disorder COL4A3-related disorder Supplemental_disease_name DISEASE_NAME:col4a3bp_related_disorder COL4A3BP-related disorder Supplemental_disease_name DISEASE_NAME:col4a4_related_disorder COL4A4-related disorder Supplemental_disease_name DISEASE_NAME:col4a5_related_disorder COL4A5-related disorder Supplemental_disease_name DISEASE_NAME:col4a6_related_disorder COL4A6-related disorder Supplemental_disease_name DISEASE_NAME:col5a1_related_disorder COL5A1-related disorder Supplemental_disease_name DISEASE_NAME:col5a1_related_disorders COL5A1-related disorders Supplemental_disease_name DISEASE_NAME:col5a2_related_disorder COL5A2-related disorder Supplemental_disease_name DISEASE_NAME:col6a1_related_disorder COL6A1-related disorder Supplemental_disease_name DISEASE_NAME:col6a2_related_core_myopathy COL6A2-related core myopathy Supplemental_disease_name DISEASE_NAME:col6a2_related_disorder COL6A2-related disorder Supplemental_disease_name DISEASE_NAME:col6a3_related_disorder COL6A3-related disorder Supplemental_disease_name DISEASE_NAME:col6a3_related_phenotype COL6A3-related phenotype Supplemental_disease_name DISEASE_NAME:col6a5_polymorphism COL6A5 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:col6a5_related_disorder COL6A5-related disorder Supplemental_disease_name DISEASE_NAME:col6a6_related_disorder COL6A6-related disorder Supplemental_disease_name DISEASE_NAME:col7a1_related_disorder COL7A1-related disorder Supplemental_disease_name DISEASE_NAME:col7a1_related_epidermolysis_bullosa COL7A1-related epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:col8a1_related_disorder COL8A1-related disorder Supplemental_disease_name DISEASE_NAME:col8a2_related_disorder COL8A2-related disorder Supplemental_disease_name DISEASE_NAME:col9a1_related_disorder COL9A1-related disorder Supplemental_disease_name DISEASE_NAME:col9a2_related_disorder COL9A2-related disorder Supplemental_disease_name DISEASE_NAME:col9a3_related_disorder COL9A3-related disorder Supplemental_disease_name DISEASE_NAME:colchicine_resistance COLCHICINE RESISTANCE Supplemental_disease_name DISEASE_NAME:cole_carpenter_syndrome_1 Cole-Carpenter syndrome 1 Supplemental_disease_name DISEASE_NAME:cole_carpenter_syndrome_2 Cole-Carpenter syndrome 2 Supplemental_disease_name DISEASE_NAME:colec10_related_disorder COLEC10-related disorder Supplemental_disease_name DISEASE_NAME:colec11_related_disorder COLEC11-related disorder Supplemental_disease_name DISEASE_NAME:colgalt1_related_disorder COLGALT1-related disorder Supplemental_disease_name DISEASE_NAME:collagen_6_related_myopathy Collagen 6-related myopathy Supplemental_disease_name DISEASE_NAME:collagen_6_related_myopathy_dystonia_27_bethlem_myopathy_1a Collagen 6-related myopathy;Dystonia 27;Bethlem myopathy 1A Supplemental_disease_name DISEASE_NAME:collagen_6_related_myopathy_ullrich_congenital_muscular_dystrophy_1a_bethlem_myopathy_1a Collagen 6-related myopathy;Ullrich congenital muscular dystrophy 1A;Bethlem myopathy 1A Supplemental_disease_name DISEASE_NAME:collagen_iv_related_nephropathies Collagen IV-related nephropathies Supplemental_disease_name DISEASE_NAME:collagen_type_1_disorder Collagen type 1 disorder Supplemental_disease_name DISEASE_NAME:collagen_type_iii_polymorphism COLLAGEN TYPE III POLYMORPHISM Supplemental_disease_name DISEASE_NAME:collagen_vi_related_myopathy Collagen VI-related myopathy Supplemental_disease_name DISEASE_NAME:collapse_finding_premature_ventricular_contraction Collapse (finding);Premature ventricular contraction Supplemental_disease_name DISEASE_NAME:coloboma_ocular_autosomal_dominant Coloboma, ocular, autosomal dominant Supplemental_disease_name DISEASE_NAME:coloboma_ocular_autosomal_recessive Coloboma, ocular, autosomal recessive Supplemental_disease_name DISEASE_NAME:coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Supplemental_disease_name DISEASE_NAME:coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness_melanoma_cutaneous_malignant_susceptibility_to_8_tietz_syndrome_waardenburg_syndrome_type_2a Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Melanoma, cutaneous malignant, susceptibility to, 8;Tietz syndrome;Waardenburg syndrome type 2A Supplemental_disease_name DISEASE_NAME:coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness_tietz_syndrome_waardenburg_syndrome_type_2a_melanoma_cutaneous_malignant_susceptibility_to_8 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Tietz syndrome;Waardenburg syndrome type 2A;Melanoma, cutaneous malignant, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:colobomatous_macrophthalmia_microcornea_syndrome Colobomatous macrophthalmia-microcornea syndrome Supplemental_disease_name DISEASE_NAME:colobomatous_optic_disc_macular_atrophy_chorioretinopathy_syndrome Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Supplemental_disease_name DISEASE_NAME:colobomatous_optic_disc_macular_atrophy_chorioretinopathy_syndrome_anophthalmia_microphthalmia_esophageal_atresia_syndrome Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome;Anophthalmia/microphthalmia-esophageal atresia syndrome Supplemental_disease_name DISEASE_NAME:colon_cancer_advanced Colon cancer, advanced Supplemental_disease_name DISEASE_NAME:colon_cancer_carcinoma Colon cancer/carcinoma Supplemental_disease_name DISEASE_NAME:colon_cancer_susceptibility_to Colon cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:colon_serrated_polyposis Colon serrated polyposis Supplemental_disease_name DISEASE_NAME:colonic_diverticula Colonic diverticula Supplemental_disease_name DISEASE_NAME:colonic_inflammation Colonic inflammation Supplemental_disease_name DISEASE_NAME:colonic_neoplasm Colonic neoplasm Supplemental_disease_name DISEASE_NAME:color_vision_defect_horizontal_nystagmus_visual_impairment_retinal_dystrophy Color vision defect;Horizontal nystagmus;Visual impairment;Retinal dystrophy Supplemental_disease_name DISEASE_NAME:color_vision_defect_macular_degeneration_photophobia Color vision defect;Macular degeneration;Photophobia Supplemental_disease_name DISEASE_NAME:colorectal_adenomatous_polyposis_autosomal_recessive_with_pilomatricomas Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Supplemental_disease_name DISEASE_NAME:colorectal_cancer_17p11_2_microduplication_syndrome_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma Colorectal cancer;17p11.2 microduplication syndrome;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:colorectal_cancer_birt_hogg_dube_syndrome_1_familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma Colorectal cancer;Birt-Hogg-Dube syndrome 1;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:colorectal_cancer_birt_hogg_dube_syndrome_1_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax Colorectal cancer;Birt-Hogg-Dube syndrome 1;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:colorectal_cancer_birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma Colorectal cancer;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:colorectal_cancer_birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome Colorectal cancer;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_chek2_related_cancer_predisposition_bone_osteosarcoma_familial_cancer_of_breast_prostate_cancer Colorectal cancer;CHEK2-related cancer predisposition;Bone osteosarcoma;Familial cancer of breast;Prostate cancer Supplemental_disease_name DISEASE_NAME:colorectal_cancer_colorectal_cancer_hereditary_nonpolyposis_type_7 Colorectal cancer;Colorectal cancer, hereditary nonpolyposis, type 7 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_colorectal_cancer_hereditary_nonpolyposis_type_7_endometrial_carcinoma Colorectal cancer;Colorectal cancer, hereditary nonpolyposis, type 7;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:colorectal_cancer_cowden_syndrome_6_familial_cancer_of_breast_ovarian_cancer_proteus_syndrome Colorectal cancer;Cowden syndrome 6;Familial cancer of breast;Ovarian cancer;Proteus syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_early_onset Colorectal cancer, early onset Supplemental_disease_name DISEASE_NAME:colorectal_cancer_endometrial_carcinoma_colorectal_cancer_hereditary_nonpolyposis_type_7 Colorectal cancer;Endometrial carcinoma;Colorectal cancer, hereditary nonpolyposis, type 7 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_familial_cancer_of_breast_proteus_syndrome_cowden_syndrome_6_ovarian_neoplasm Colorectal cancer;Familial cancer of breast;Proteus syndrome;Cowden syndrome 6;Ovarian neoplasm Supplemental_disease_name DISEASE_NAME:colorectal_cancer_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma Colorectal cancer;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:colorectal_cancer_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome Colorectal cancer;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma Colorectal cancer;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:colorectal_cancer_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_1_nonpapillary_renal_cell_carcinoma Colorectal cancer;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome 1;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:colorectal_cancer_familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_1 Colorectal cancer;Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome 1 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach_desmoid_disease_hereditary_familial_adenomatous_polyposis_1 Colorectal cancer;Gastric adenocarcinoma and proximal polyposis of the stomach;Desmoid disease, hereditary;Familial adenomatous polyposis 1 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_2 Colorectal cancer, hereditary nonpolyposis, type 2 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_2_mismatch_repair_cancer_syndrome_1 Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_2_mismatch_repair_cancer_syndrome_1_muir_torré_syndrome Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome 1;Muir-Torré syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_2_muir_torré_syndrome Colorectal cancer, hereditary nonpolyposis, type 2;Muir-Torré syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_2_muir_torré_syndrome_mismatch_repair_cancer_syndrome_1 Colorectal cancer, hereditary nonpolyposis, type 2;Muir-Torré syndrome;Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_6 Colorectal cancer, hereditary nonpolyposis, type 6 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_6_loeys_dietz_syndrome_2 Colorectal cancer, hereditary nonpolyposis, type 6;Loeys-Dietz syndrome 2 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_6_loeys_dietz_syndrome_2_malignant_tumor_of_esophagus Colorectal cancer, hereditary nonpolyposis, type 6;Loeys-Dietz syndrome 2;Malignant tumor of esophagus Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_6_malignant_tumor_of_esophagus_loeys_dietz_syndrome_2 Colorectal cancer, hereditary nonpolyposis, type 6;Malignant tumor of esophagus;Loeys-Dietz syndrome 2 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_7 Colorectal cancer, hereditary nonpolyposis, type 7 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_7_colorectal_cancer_endometrial_carcinoma Colorectal cancer, hereditary nonpolyposis, type 7;Colorectal cancer;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_7_endometrial_carcinoma_colorectal_cancer Colorectal cancer, hereditary nonpolyposis, type 7;Endometrial carcinoma;Colorectal cancer Supplemental_disease_name DISEASE_NAME:colorectal_cancer_leprosy_susceptibility_to_3 Colorectal cancer;Leprosy, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_leprosy_susceptibility_to_3_mycobacterium_tuberculosis_susceptibility_to Colorectal cancer;Leprosy, susceptibility to, 3;Mycobacterium tuberculosis, susceptibility to Supplemental_disease_name DISEASE_NAME:colorectal_cancer_li_fraumeni_syndrome_1 Colorectal cancer;Li-Fraumeni syndrome 1 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_menke_hennekam_syndrome_2_rubinstein_taybi_syndrome_due_to_crebbp_mutations_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Colorectal cancer;Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:colorectal_cancer_menke_hennekam_syndrome_2_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Colorectal cancer;Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:colorectal_cancer_mirror_movements_1_gaze_palsy_familial_horizontal_with_progressive_scoliosis_2_malignant_tumor_of_esophagus Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2;Malignant tumor of esophagus Supplemental_disease_name DISEASE_NAME:colorectal_cancer_mosaic_variegated_aneuploidy_syndrome_1_premature_chromatid_separation_trait Colorectal cancer;Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait Supplemental_disease_name DISEASE_NAME:colorectal_cancer_multiple_myeloma Colorectal cancer;Multiple myeloma Supplemental_disease_name DISEASE_NAME:colorectal_cancer_non_polyposis Colorectal cancer, non-polyposis Supplemental_disease_name DISEASE_NAME:colorectal_cancer_nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome_1_familial_spontaneous_pneumothorax Colorectal cancer;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome 1;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:colorectal_cancer_nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome Colorectal cancer;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_1_familial_spontaneous_pneumothorax Colorectal cancer;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome 1;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:colorectal_cancer_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome Colorectal cancer;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_1 Colorectal cancer;Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome 1 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_oligodontia_cancer_predisposition_syndrome Colorectal cancer;Oligodontia-cancer predisposition syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_ovarian_cancer_familial_cancer_of_breast_cowden_syndrome_6_proteus_syndrome Colorectal cancer;Ovarian cancer;Familial cancer of breast;Cowden syndrome 6;Proteus syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_premature_chromatid_separation_trait_mosaic_variegated_aneuploidy_syndrome_1 Colorectal cancer;Premature chromatid separation trait;Mosaic variegated aneuploidy syndrome 1 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_protection_against Colorectal cancer, protection against Supplemental_disease_name DISEASE_NAME:colorectal_cancer_proteus_syndrome_cowden_syndrome_6_ovarian_cancer_familial_cancer_of_breast Colorectal cancer;Proteus syndrome;Cowden syndrome 6;Ovarian cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:colorectal_cancer_rubinstein_taybi_syndrome_due_to_crebbp_mutations_menke_hennekam_syndrome_2_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Colorectal cancer;Rubinstein-Taybi syndrome due to CREBBP mutations;Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:colorectal_cancer_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:colorectal_cancer_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_menke_hennekam_syndrome_2 Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Menke-Hennekam syndrome 2 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_rubinstein_taybi_syndrome_due_to_crebbp_mutations_menke_hennekam_syndrome_2 Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Rubinstein-Taybi syndrome due to CREBBP mutations;Menke-Hennekam syndrome 2 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_sporadic_susceptibility_to Colorectal cancer, sporadic, susceptibility to Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_12 Colorectal cancer susceptibility 12 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to Colorectal cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_1 Colorectal cancer, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_10 Colorectal cancer, susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_10_immunodeficiency_120_mandibular_hypoplasia_deafness_progeroid_syndrome Colorectal cancer, susceptibility to, 10;Immunodeficiency 120;Mandibular hypoplasia-deafness-progeroid syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_10_mandibular_hypoplasia_deafness_progeroid_syndrome Colorectal cancer, susceptibility to, 10;Mandibular hypoplasia-deafness-progeroid syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_10_mandibular_hypoplasia_deafness_progeroid_syndrome_immunodeficiency_120 Colorectal cancer, susceptibility to, 10;Mandibular hypoplasia-deafness-progeroid syndrome;Immunodeficiency 120 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_12 Colorectal cancer, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_12_facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome Colorectal cancer, susceptibility to, 12;Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_12_facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome_intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency Colorectal cancer, susceptibility to, 12;Facial dysmorphism-immunodeficiency-livedo-short stature syndrome;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_12_intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency_facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome Colorectal cancer, susceptibility to, 12;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency;Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_12_polymerase_proofreading_related_adenomatous_polyposis Colorectal cancer, susceptibility to, 12;Polymerase proofreading-related adenomatous polyposis Supplemental_disease_name DISEASE_NAME:colorectal_cancer_susceptibility_to_3 Colorectal cancer, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_with_chromosomal_instability_somatic Colorectal cancer with chromosomal instability, somatic Supplemental_disease_name DISEASE_NAME:colorectal_carcinoma_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Colorectal carcinoma;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:colorectal_endometrial_cancer Colorectal / endometrial cancer Supplemental_disease_name DISEASE_NAME:colorectal_polyposis Colorectal polyposis Supplemental_disease_name DISEASE_NAME:colorectal_polyposis_colonic_neoplasm Colorectal polyposis;Colonic neoplasm Supplemental_disease_name DISEASE_NAME:colorectal_polyposis_global_developmental_delay_autism_with_high_cognitive_abilities_failure_to_thrive Colorectal polyposis;Global developmental delay;Autism with high cognitive abilities;Failure to thrive Supplemental_disease_name DISEASE_NAME:colorectal_tumor Colorectal tumor Supplemental_disease_name DISEASE_NAME:colostrum_secretion Colostrum secretion Supplemental_disease_name DISEASE_NAME:colpocephaly_abnormal_cerebral_cortex_morphology_corpus_callosum_agenesis_of Colpocephaly;Abnormal cerebral cortex morphology;Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:colq_related_disorder COLQ-related disorder Supplemental_disease_name DISEASE_NAME:colton_blood_group_polymorphism COLTON BLOOD GROUP POLYMORPHISM Supplemental_disease_name DISEASE_NAME:colton_null_phenotype Colton-null phenotype Supplemental_disease_name DISEASE_NAME:combined_deficiency_of_factor_v_and_factor_vii Combined deficiency of factor V and factor VII Supplemental_disease_name DISEASE_NAME:combined_deficiency_of_sialidase_and_beta_galactosidase Combined deficiency of sialidase AND beta galactosidase Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia_neural_tube_defects_folate_sensitive Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;Neural tube defects, folate-sensitive Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_chronic_colitis Combined immunodeficiency;Chronic colitis Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_cd3gamma_deficiency Combined immunodeficiency due to CD3gamma deficiency Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_ctps1_deficiency Combined immunodeficiency due to CTPS1 deficiency Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_dock8_deficiency Combined immunodeficiency due to DOCK8 deficiency Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_lrba_deficiency Combined immunodeficiency due to LRBA deficiency Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_orai1_deficiency_myopathy_tubular_aggregate_1 Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 1 Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_orai1_deficiency_myopathy_tubular_aggregate_2 Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2 Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_partial_rag1_deficiency Combined immunodeficiency due to partial RAG1 deficiency Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_partial_rag1_deficiency_combined_immunodeficiency_with_skin_granulomas_histiocytic_medullary_reticulosis_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive Combined immunodeficiency due to partial RAG1 deficiency;Combined immunodeficiency with skin granulomas;Histiocytic medullary reticulosis;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_partial_rag1_deficiency_combined_immunodeficiency_with_skin_granulomas_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_histiocytic_medullary_reticulosis Combined immunodeficiency due to partial RAG1 deficiency;Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_partial_rag1_deficiency_histiocytic_medullary_reticulosis_combined_immunodeficiency_with_skin_granulomas_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive Combined immunodeficiency due to partial RAG1 deficiency;Histiocytic medullary reticulosis;Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_partial_rag1_deficiency_histiocytic_medullary_reticulosis_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_with_skin_granulomas Combined immunodeficiency due to partial RAG1 deficiency;Histiocytic medullary reticulosis;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency with skin granulomas Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_partial_rag1_deficiency_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_with_skin_granulomas_histiocytic_medullary_reticulosis Combined immunodeficiency due to partial RAG1 deficiency;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency with skin granulomas;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_partial_rag1_deficiency_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_histiocytic_medullary_reticulosis_combined_immunodeficiency_with_skin_granulomas Combined immunodeficiency due to partial RAG1 deficiency;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Histiocytic medullary reticulosis;Combined immunodeficiency with skin granulomas Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_stim1_deficiency_myopathy_tubular_aggregate_1_stormorken_syndrome Combined immunodeficiency due to STIM1 deficiency;Myopathy, tubular aggregate, 1;Stormorken syndrome Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_stim1_deficiency_myopathy_with_tubular_aggregates_stormorken_syndrome Combined immunodeficiency due to STIM1 deficiency;Myopathy with tubular aggregates;Stormorken syndrome Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_stim1_deficiency_stormorken_syndrome_myopathy_tubular_aggregate_1 Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome;Myopathy, tubular aggregate, 1 Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_stim1_deficiency_stormorken_syndrome_myopathy_with_tubular_aggregates Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome;Myopathy with tubular aggregates Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_stk4_deficiency Combined immunodeficiency due to STK4 deficiency Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_zap70_deficiency_autoimmune_disease_multisystem_infantile_onset_2 Combined immunodeficiency due to ZAP70 deficiency;Autoimmune disease, multisystem, infantile-onset, 2 Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_faciooculoskeletal_anomalies Combined immunodeficiency with faciooculoskeletal anomalies Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_faciooculoskeletal_anomalies_immunodeficiency_14_immunodeficiency_14b_autosomal_recessive Combined immunodeficiency with faciooculoskeletal anomalies;Immunodeficiency 14;Immunodeficiency 14b, autosomal recessive Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_faciooculoskeletal_anomalies_immunodeficiency_14b_autosomal_recessive_immunodeficiency_14 Combined immunodeficiency with faciooculoskeletal anomalies;Immunodeficiency 14b, autosomal recessive;Immunodeficiency 14 Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_skin_granulomas_combined_immunodeficiency_due_to_partial_rag1_deficiency_histiocytic_medullary_reticulosis_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive Combined immunodeficiency with skin granulomas;Combined immunodeficiency due to partial RAG1 deficiency;Histiocytic medullary reticulosis;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_skin_granulomas_combined_immunodeficiency_due_to_partial_rag1_deficiency_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_histiocytic_medullary_reticulosis Combined immunodeficiency with skin granulomas;Combined immunodeficiency due to partial RAG1 deficiency;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_skin_granulomas_histiocytic_medullary_reticulosis_combined_immunodeficiency_due_to_partial_rag1_deficiency_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive Combined immunodeficiency with skin granulomas;Histiocytic medullary reticulosis;Combined immunodeficiency due to partial RAG1 deficiency;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_skin_granulomas_histiocytic_medullary_reticulosis_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive Combined immunodeficiency with skin granulomas;Histiocytic medullary reticulosis;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_skin_granulomas_histiocytic_medullary_reticulosis_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_due_to_partial_rag1_deficiency Combined immunodeficiency with skin granulomas;Histiocytic medullary reticulosis;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency due to partial RAG1 deficiency Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_skin_granulomas_recombinase_activating_gene_2_deficiency_inborn_error_of_immunity Combined immunodeficiency with skin granulomas;Recombinase activating gene 2 deficiency;Inborn error of immunity Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_skin_granulomas_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_skin_granulomas_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_histiocytic_medullary_reticulosis Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_x_linked Combined immunodeficiency, X-linked Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_x_linked_x_linked_severe_combined_immunodeficiency Combined immunodeficiency, X-linked;X-linked severe combined immunodeficiency Supplemental_disease_name DISEASE_NAME:combined_low_ldl_and_fibrinogen Combined low LDL and fibrinogen Supplemental_disease_name DISEASE_NAME:combined_molybdoflavoprotein_enzyme_deficiency Combined molybdoflavoprotein enzyme deficiency Supplemental_disease_name DISEASE_NAME:combined_osteogenesis_imperfecta_and_ehlers_danlos_syndrome Combined osteogenesis imperfecta and Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:combined_osteogenesis_imperfecta_and_ehlers_danlos_syndrome_1 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Supplemental_disease_name DISEASE_NAME:combined_osteogenesis_imperfecta_and_ehlers_danlos_syndrome_2 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Supplemental_disease_name DISEASE_NAME:combined_osteogenesis_imperfecta_and_ehlers_danlos_syndrome_2_ehlers_danlos_syndrome_arthrochalasia_type_2 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2;Ehlers-Danlos syndrome, arthrochalasia type, 2 Supplemental_disease_name DISEASE_NAME:combined_osteogenesis_imperfecta_and_ehlers_danlos_syndrome_2_ehlers_danlos_syndrome_arthrochalasia_type_2_osteogenesis_imperfecta_perinatal_lethal_ehlers_danlos_syndrome_cardiac_valvular_type_osteogenesis_imperfecta_with_normal_sclerae_dominant_form Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2;Ehlers-Danlos syndrome, arthrochalasia type, 2;Osteogenesis imperfecta, perinatal lethal;Ehlers-Danlos syndrome, cardiac valvular type;Osteogenesis imperfecta with normal sclerae, dominant form Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_11 Combined oxidative phosphorylation defect type 11 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_13 Combined oxidative phosphorylation defect type 13 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_13_autosomal_recessive_nonsyndromic_hearing_loss_70 Combined oxidative phosphorylation defect type 13;Autosomal recessive nonsyndromic hearing loss 70 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_13_autosomal_recessive_nonsyndromic_hearing_loss_70_spinocerebellar_ataxia_type_25 Combined oxidative phosphorylation defect type 13;Autosomal recessive nonsyndromic hearing loss 70;Spinocerebellar ataxia type 25 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_14 Combined oxidative phosphorylation defect type 14 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_14_hereditary_spastic_paraplegia_77 Combined oxidative phosphorylation defect type 14;Hereditary spastic paraplegia 77 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_15 Combined oxidative phosphorylation defect type 15 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_15_mitochondrial_complex_i_deficiency_nuclear_type_27 Combined oxidative phosphorylation defect type 15;Mitochondrial complex I deficiency, nuclear type 27 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_17 Combined oxidative phosphorylation defect type 17 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_17_prostate_cancer_hereditary_2 Combined oxidative phosphorylation defect type 17;Prostate cancer, hereditary, 2 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_2 Combined oxidative phosphorylation defect type 2 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_20 Combined oxidative phosphorylation defect type 20 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_21 Combined oxidative phosphorylation defect type 21 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_23 Combined oxidative phosphorylation defect type 23 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_24 Combined oxidative phosphorylation defect type 24 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_24_hearing_loss_autosomal_recessive_94 Combined oxidative phosphorylation defect type 24;Hearing loss, autosomal recessive 94 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_25 Combined oxidative phosphorylation defect type 25 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_25_spastic_ataxia_3 Combined oxidative phosphorylation defect type 25;Spastic ataxia 3 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_26 Combined oxidative phosphorylation defect type 26 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_27 Combined oxidative phosphorylation defect type 27 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_30 Combined oxidative phosphorylation defect type 30 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_4 Combined oxidative phosphorylation defect type 4 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_7 Combined oxidative phosphorylation defect type 7 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_7_hereditary_spastic_paraplegia_55 Combined oxidative phosphorylation defect type 7;Hereditary spastic paraplegia 55 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_7_spastic_paraplegia Combined oxidative phosphorylation defect type 7;Spastic paraplegia Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_8 Combined oxidative phosphorylation defect type 8 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_defect_type_9 Combined oxidative phosphorylation defect type 9 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_deficiency_39_hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1 Combined oxidative phosphorylation deficiency 39;Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_deficiency_58 Combined oxidative phosphorylation deficiency 58 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_deficiency_59 Combined oxidative phosphorylation deficiency 59 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_deficiency_60 Combined oxidative phosphorylation deficiency 60 Supplemental_disease_name DISEASE_NAME:combined_oxidative_phosphorylation_deficiency_charcot_marie_tooth_neuropathy_x Combined oxidative phosphorylation deficiency;Charcot-Marie-Tooth Neuropathy X Supplemental_disease_name DISEASE_NAME:combined_pituitary_hormone_deficiencies_genetic_form Combined pituitary hormone deficiencies, genetic form Supplemental_disease_name DISEASE_NAME:combined_psap_deficiency Combined PSAP deficiency Supplemental_disease_name DISEASE_NAME:combined_psap_deficiency_krabbe_disease_due_to_saposin_a_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to_sphingolipid_activator_protein_1_deficiency_gaucher_disease_due_to_saposin_c_deficiency Combined PSAP deficiency;Krabbe disease due to saposin A deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Sphingolipid activator protein 1 deficiency;Gaucher disease due to saposin C deficiency Supplemental_disease_name DISEASE_NAME:combined_psap_deficiency_krabbe_disease_due_to_saposin_a_deficiency_sphingolipid_activator_protein_1_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to_gaucher_disease_due_to_saposin_c_deficiency Combined PSAP deficiency;Krabbe disease due to saposin A deficiency;Sphingolipid activator protein 1 deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Gaucher disease due to saposin C deficiency Supplemental_disease_name DISEASE_NAME:combined_psap_deficiency_sphingolipid_activator_protein_1_deficiency_gaucher_disease_due_to_saposin_c_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to_krabbe_disease_due_to_saposin_a_deficiency Combined PSAP deficiency;Sphingolipid activator protein 1 deficiency;Gaucher disease due to saposin C deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Krabbe disease due to saposin A deficiency Supplemental_disease_name DISEASE_NAME:combined_pulmonary_fibrosis_emphysema_syndrome Combined pulmonary fibrosis-emphysema syndrome Supplemental_disease_name DISEASE_NAME:common_craniosynostosis_syndromes Common craniosynostosis syndromes Supplemental_disease_name DISEASE_NAME:comp_related_disorder COMP-related disorder Supplemental_disease_name DISEASE_NAME:complement_3_glomerulopathy Complement 3 glomerulopathy Supplemental_disease_name DISEASE_NAME:complement_component_2_deficiency_age_related_macular_degeneration_14 Complement component 2 deficiency;Age related macular degeneration 14 Supplemental_disease_name DISEASE_NAME:complement_component_3_deficiency_age_related_macular_degeneration_1_hemolytic_uremic_syndrome_atypical_susceptibility_to_1 Complement component 3 deficiency;Age related macular degeneration 1;Hemolytic uremic syndrome, atypical, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:complement_component_3_deficiency_age_related_macular_degeneration_9_atypical_hemolytic_uremic_syndrome_with_c3_anomaly Complement component 3 deficiency;Age related macular degeneration 9;Atypical hemolytic-uremic syndrome with C3 anomaly Supplemental_disease_name DISEASE_NAME:complement_component_3_deficiency_atypical_hemolytic_uremic_syndrome_c3_glomerulonephritis Complement component 3 deficiency;Atypical hemolytic-uremic syndrome;C3 glomerulonephritis Supplemental_disease_name DISEASE_NAME:complement_component_3_deficiency_atypical_hemolytic_uremic_syndrome_with_c3_anomaly_age_related_macular_degeneration_9 Complement component 3 deficiency;Atypical hemolytic-uremic syndrome with C3 anomaly;Age related macular degeneration 9 Supplemental_disease_name DISEASE_NAME:complement_component_3_deficiency_atypical_hemolytic_uremic_syndrome_with_c3_anomaly_c3_glomerulonephritis Complement component 3 deficiency;Atypical hemolytic-uremic syndrome with C3 anomaly;C3 glomerulonephritis Supplemental_disease_name DISEASE_NAME:complement_component_3_deficiency_c3_glomerulonephritis_atypical_hemolytic_uremic_syndrome Complement component 3 deficiency;C3 glomerulonephritis;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:complement_component_3_deficiency_c3_glomerulonephritis_atypical_hemolytic_uremic_syndrome_with_c3_anomaly Complement component 3 deficiency;C3 glomerulonephritis;Atypical hemolytic-uremic syndrome with C3 anomaly Supplemental_disease_name DISEASE_NAME:complement_component_4_partial_deficiency_of_due_to_dysfunctional_c1_inhibitor Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Supplemental_disease_name DISEASE_NAME:complement_component_5_deficiency_eculizumab_poor_response_to Complement component 5 deficiency;Eculizumab, poor response to Supplemental_disease_name DISEASE_NAME:complement_component_8_alpha_subunit_a_b_polymorphism COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM Supplemental_disease_name DISEASE_NAME:complement_component_9_deficiency_age_related_macular_degeneration_15 Complement component 9 deficiency;Age related macular degeneration 15 Supplemental_disease_name DISEASE_NAME:complement_component_c1s_deficiency Complement component C1s deficiency Supplemental_disease_name DISEASE_NAME:complement_component_c1s_deficiency_ehlers_danlos_syndrome_periodontal_type_2 Complement component C1s deficiency;Ehlers-Danlos syndrome, periodontal type 2 Supplemental_disease_name DISEASE_NAME:complement_factor_b_deficiency Complement factor b deficiency Supplemental_disease_name DISEASE_NAME:complement_factor_b_deficiency_atypical_hemolytic_uremic_syndrome_with_b_factor_anomaly Complement factor b deficiency;Atypical hemolytic-uremic syndrome with B factor anomaly Supplemental_disease_name DISEASE_NAME:complement_factor_b_deficiency_atypical_hemolytic_uremic_syndrome_with_b_factor_anomaly_age_related_macular_degeneration_14 Complement factor b deficiency;Atypical hemolytic-uremic syndrome with B factor anomaly;Age related macular degeneration 14 Supplemental_disease_name DISEASE_NAME:complement_factor_h_deficiency Complement factor H deficiency Supplemental_disease_name DISEASE_NAME:complement_hyperactivation_angiopathic_thrombosis_and_protein_losing_enteropathy Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy Supplemental_disease_name DISEASE_NAME:complement_hyperactivation_angiopathic_thrombosis_protein_losing_enteropathy_syndrome Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome Supplemental_disease_name DISEASE_NAME:complement_hyperactivation_angiopathic_thrombosis_protein_losing_enteropathy_syndrome_cromer_blood_group_system Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome;Cromer blood group system Supplemental_disease_name DISEASE_NAME:complement_mediated_glomerular_disease Complement-mediated glomerular disease Supplemental_disease_name DISEASE_NAME:complete_achromatopsia Complete achromatopsia Supplemental_disease_name DISEASE_NAME:complete_trisomy_13_syndrome Complete trisomy 13 syndrome Supplemental_disease_name DISEASE_NAME:complex_cortical_dysplasia_with_other_brain_malformations_1_fibrosis_of_extraocular_muscles_congenital_3a_with_or_without_extraocular_involvement Complex cortical dysplasia with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement Supplemental_disease_name DISEASE_NAME:complex_cortical_dysplasia_with_other_brain_malformations_7_complex_cortical_dysplasia_with_other_brain_malformations_1 Complex cortical dysplasia with other brain malformations 7;Complex cortical dysplasia with other brain malformations 1 Supplemental_disease_name DISEASE_NAME:complex_febrile_seizure Complex febrile seizure Supplemental_disease_name DISEASE_NAME:complex_hereditary_spastic_paraplegia Complex hereditary spastic paraplegia Supplemental_disease_name DISEASE_NAME:complex_i_deficiency Complex I deficiency Supplemental_disease_name DISEASE_NAME:complex_lethal_osteochondrodysplasia Complex lethal osteochondrodysplasia Supplemental_disease_name DISEASE_NAME:complex_microphthalmia complex microphthalmia Supplemental_disease_name DISEASE_NAME:complex_neurodevelopmental_disorder Complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:complex_neurodevelopmental_disorder_developmental_and_epileptic_encephalopathy_11_episodic_ataxia_type_9_seizures_benign_familial_infantile_3 Complex neurodevelopmental disorder;Developmental and epileptic encephalopathy, 11;Episodic ataxia, type 9;Seizures, benign familial infantile, 3 Supplemental_disease_name DISEASE_NAME:complex_neurodevelopmental_disorder_with_motor_features Complex neurodevelopmental disorder with motor features Supplemental_disease_name DISEASE_NAME:complex_neurodevelopmental_disorder_with_or_without_congenital_anomalies Complex neurodevelopmental disorder with or without congenital anomalies Supplemental_disease_name DISEASE_NAME:complex_neurodevelopmental_disorders Complex neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:comt_polymorphism COMT POLYMORPHISM Supplemental_disease_name DISEASE_NAME:comt_related_disorder COMT-related disorder Supplemental_disease_name DISEASE_NAME:concentric_hypertrophic_cardiomyopathy Concentric hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:concentric_hypertrophic_cardiomyopathy_left_ventricular_noncompaction_cardiomyopathy Concentric hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy Supplemental_disease_name DISEASE_NAME:concomitant_exotropia concomitant exotropia Supplemental_disease_name DISEASE_NAME:conduction_disorder_of_the_heart Conduction disorder of the heart Supplemental_disease_name DISEASE_NAME:conduction_system_disorder Conduction system disorder Supplemental_disease_name DISEASE_NAME:cone_dystrophy_1_x_linked Cone dystrophy 1, X-linked Supplemental_disease_name DISEASE_NAME:cone_dystrophy_3 Cone dystrophy 3 Supplemental_disease_name DISEASE_NAME:cone_dystrophy_4 Cone dystrophy 4 Supplemental_disease_name DISEASE_NAME:cone_dystrophy_5_x_linked Cone dystrophy 5, X-linked Supplemental_disease_name DISEASE_NAME:cone_dystrophy_and_rod_monochromatism Cone dystrophy and rod monochromatism Supplemental_disease_name DISEASE_NAME:cone_dystrophy_retinal_pigment_epithelial_atrophy Cone dystrophy;Retinal pigment epithelial atrophy Supplemental_disease_name DISEASE_NAME:cone_dystrophy_with_supernormal_rod_electroretinogram cone dystrophy with supernormal rod electroretinogram Supplemental_disease_name DISEASE_NAME:cone_dystrophy_with_supernormal_rod_response Cone dystrophy with supernormal rod response Supplemental_disease_name DISEASE_NAME:cone_monochromatism Cone monochromatism Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_10_retinitis_pigmentosa_35 Cone-rod dystrophy 10;Retinitis pigmentosa 35 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_11_age_related_macular_degeneration_6_retinitis_pigmentosa_95 Cone-rod dystrophy 11;Age related macular degeneration 6;Retinitis pigmentosa 95 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_12_retinal_macular_dystrophy_type_2_stargardt_disease_4_retinitis_pigmentosa_41 Cone-rod dystrophy 12;Retinal macular dystrophy type 2;Stargardt disease 4;Retinitis pigmentosa 41 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_12_stargardt_disease_4_retinal_macular_dystrophy_type_2_retinitis_pigmentosa_41 Cone-rod dystrophy 12;Stargardt disease 4;Retinal macular dystrophy type 2;Retinitis pigmentosa 41 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_12_stargardt_disease_4_retinitis_pigmentosa_41_retinal_macular_dystrophy_type_2 Cone-rod dystrophy 12;Stargardt disease 4;Retinitis pigmentosa 41;Retinal macular dystrophy type 2 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_13_leber_congenital_amaurosis_6 Cone-rod dystrophy 13;Leber congenital amaurosis 6 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_16_retinitis_pigmentosa_bardet_biedl_syndrome_21 Cone-rod dystrophy 16;Retinitis pigmentosa;Bardet-biedl syndrome 21 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_23 Cone-rod dystrophy 23 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_2_leber_congenital_amaurosis_7 Cone-rod dystrophy 2;Leber congenital amaurosis 7 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_2_retinitis_pigmentosa_leber_congenital_amaurosis_7 Cone-rod dystrophy 2;Retinitis pigmentosa;Leber congenital amaurosis 7 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_age_related_macular_degeneration_2_retinitis_pigmentosa_19_severe_early_childhood_onset_retinal_dystrophy Cone-rod dystrophy 3;Age related macular degeneration 2;Retinitis pigmentosa 19;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_age_related_macular_degeneration_2_severe_early_childhood_onset_retinal_dystrophy_retinitis_pigmentosa_19 Cone-rod dystrophy 3;Age related macular degeneration 2;Severe early-childhood-onset retinal dystrophy;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_retinitis_pigmentosa_19 Cone-rod dystrophy 3;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_retinitis_pigmentosa_19_age_related_macular_degeneration Cone-rod dystrophy 3;Retinitis pigmentosa 19;Age-related macular degeneration Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_retinitis_pigmentosa_19_age_related_macular_degeneration_2_severe_early_childhood_onset_retinal_dystrophy Cone-rod dystrophy 3;Retinitis pigmentosa 19;Age related macular degeneration 2;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_retinitis_pigmentosa_19_severe_early_childhood_onset_retinal_dystrophy Cone-rod dystrophy 3;Retinitis pigmentosa 19;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_retinitis_pigmentosa_19_severe_early_childhood_onset_retinal_dystrophy_age_related_macular_degeneration_2 Cone-rod dystrophy 3;Retinitis pigmentosa 19;Severe early-childhood-onset retinal dystrophy;Age related macular degeneration 2 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_severe_early_childhood_onset_retinal_dystrophy_age_related_macular_degeneration_2_retinitis_pigmentosa_19 Cone-rod dystrophy 3;Severe early-childhood-onset retinal dystrophy;Age related macular degeneration 2;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_severe_early_childhood_onset_retinal_dystrophy_retinitis_pigmentosa_19 Cone-rod dystrophy 3;Severe early-childhood-onset retinal dystrophy;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_3_severe_early_childhood_onset_retinal_dystrophy_retinitis_pigmentosa_19_age_related_macular_degeneration_2 Cone-rod dystrophy 3;Severe early-childhood-onset retinal dystrophy;Retinitis pigmentosa 19;Age related macular degeneration 2 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_6_choroidal_dystrophy_central_areolar_1_leber_congenital_amaurosis_1_night_blindness_congenital_stationary_type1i Cone-rod dystrophy 6;Choroidal dystrophy, central areolar, 1;Leber congenital amaurosis 1;Night blindness, congenital stationary, type1i Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_6_leber_congenital_amaurosis_1 Cone-rod dystrophy 6;Leber congenital amaurosis 1 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_6_leber_congenital_amaurosis_1_choroidal_dystrophy_central_areolar_1_night_blindness_congenital_stationary_type1i Cone-rod dystrophy 6;Leber congenital amaurosis 1;Choroidal dystrophy, central areolar, 1;Night blindness, congenital stationary, type1i Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_6_leber_congenital_amaurosis_1_night_blindness_congenital_stationary_type1i Cone-rod dystrophy 6;Leber congenital amaurosis 1;Night blindness, congenital stationary, type1i Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_6_night_blindness_congenital_stationary_type1i_choroidal_dystrophy_central_areolar_1_leber_congenital_amaurosis_1 Cone-rod dystrophy 6;Night blindness, congenital stationary, type1i;Choroidal dystrophy, central areolar, 1;Leber congenital amaurosis 1 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_aipl1_related CONE-ROD DYSTROPHY, AIPL1-RELATED Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_aipl1_related_juvenile_retinitis_pigmentosa_aipl1_related_leber_congenital_amaurosis_4_aipl1_related_disorder CONE-ROD DYSTROPHY, AIPL1-RELATED;Juvenile retinitis pigmentosa, AIPL1-related;Leber congenital amaurosis 4;AIPL1-related disorder Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_and_hearing_loss Cone-rod dystrophy and hearing loss Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_and_hearing_loss_1 Cone-rod dystrophy and hearing loss 1 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_and_hearing_loss_2 Cone-rod dystrophy and hearing loss 2 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_stargardt_disease Cone-rod dystrophy;Stargardt disease Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_with_or_without_extraocular_features Cone-rod dystrophy with or without extraocular features Supplemental_disease_name DISEASE_NAME:cone_rod_synaptic_disorder_congenital_nonprogressive Cone-rod synaptic disorder, congenital nonprogressive Supplemental_disease_name DISEASE_NAME:cone_rod_synaptic_disorder_syndrome_congenital_nonprogressive Cone-rod synaptic disorder syndrome, congenital nonprogressive Supplemental_disease_name DISEASE_NAME:confusion Confusion Supplemental_disease_name DISEASE_NAME:congenital_absence_of_salivary_gland Congenital absence of salivary gland Supplemental_disease_name DISEASE_NAME:congenital_absence_of_salivary_gland_lacrimoauriculodentodigital_syndrome_3 Congenital absence of salivary gland;Lacrimoauriculodentodigital syndrome 3 Supplemental_disease_name DISEASE_NAME:congenital_absence_of_salivary_gland_levy_hollister_syndrome Congenital absence of salivary gland;Levy-Hollister syndrome Supplemental_disease_name DISEASE_NAME:congenital_adrenal_hyperplasia_due_to_cytochrome_p450_oxidoreductase_deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Supplemental_disease_name DISEASE_NAME:congenital_adrenal_hyperplasia_due_to_cytochrome_p450_oxidoreductase_deficiency_antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency;Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Supplemental_disease_name DISEASE_NAME:congenital_adrenal_hyperplasia_due_to_cytochrome_p450_oxidoreductase_deficiency_antley_bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis_antley_bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Supplemental_disease_name DISEASE_NAME:congenital_adrenal_hypoplasia_x_linked Congenital adrenal hypoplasia, X-linked Supplemental_disease_name DISEASE_NAME:congenital_adrenal_hypoplasia_x_linked_46_xy_sex_reversal_2 Congenital adrenal hypoplasia, X-linked;46,XY sex reversal 2 Supplemental_disease_name DISEASE_NAME:congenital_adrenal_insufficiency_with_46_xy_sex_reversal_or_46_xy_disorder_of_sex_development_adrenal_insufficiency_due_to_cyp11a1_deficiency Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency Supplemental_disease_name DISEASE_NAME:congenital_afibrinogenemia_familial_dysfibrinogenemia Congenital afibrinogenemia;Familial dysfibrinogenemia Supplemental_disease_name DISEASE_NAME:congenital_afibrinogenemia_familial_dysfibrinogenemia_familial_visceral_amyloidosis_ostertag_type Congenital afibrinogenemia;Familial dysfibrinogenemia;Familial visceral amyloidosis, Ostertag type Supplemental_disease_name DISEASE_NAME:congenital_afibrinogenemia_familial_visceral_amyloidosis_ostertag_type Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type Supplemental_disease_name DISEASE_NAME:congenital_afibrinogenemia_familial_visceral_amyloidosis_ostertag_type_familial_dysfibrinogenemia Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia Supplemental_disease_name DISEASE_NAME:congenital_alveolar_dysplasia_due_to_tbx4 Congenital alveolar dysplasia due to TBX4 Supplemental_disease_name DISEASE_NAME:congenital_amegakaryocytic_thrombocytopenia_1_primary_myelofibrosis_thrombocythemia_2 Congenital amegakaryocytic thrombocytopenia 1;Primary myelofibrosis;Thrombocythemia 2 Supplemental_disease_name DISEASE_NAME:congenital_amegakaryocytic_thrombocytopenia_essential_thrombocythemia Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia Supplemental_disease_name DISEASE_NAME:congenital_amegakaryocytic_thrombocytopenia_primary_myelofibrosis_thrombocythemia_2 Congenital amegakaryocytic thrombocytopenia;Primary myelofibrosis;Thrombocythemia 2 Supplemental_disease_name DISEASE_NAME:congenital_amegakaryocytic_thrombocytopenia_thrombocythemia_1 Congenital amegakaryocytic thrombocytopenia;Thrombocythemia 1 Supplemental_disease_name DISEASE_NAME:congenital_amegakaryocytic_thrombocytopenia_thrombocythemia_2_primary_myelofibrosis Congenital amegakaryocytic thrombocytopenia;Thrombocythemia 2;Primary myelofibrosis Supplemental_disease_name DISEASE_NAME:congenital_and_infantile_nephrotic_syndrome Congenital and infantile nephrotic syndrome Supplemental_disease_name DISEASE_NAME:congenital_anemia Congenital anemia Supplemental_disease_name DISEASE_NAME:congenital_aneurysm_of_ascending_aorta Congenital aneurysm of ascending aorta Supplemental_disease_name DISEASE_NAME:congenital_aneurysm_of_ascending_aorta_acute_aortic_dissection Congenital aneurysm of ascending aorta;Acute aortic dissection Supplemental_disease_name DISEASE_NAME:congenital_aneurysm_of_ascending_aorta_aortic_aneurysm_familial_thoracic_4 Congenital aneurysm of ascending aorta;Aortic aneurysm, familial thoracic 4 Supplemental_disease_name DISEASE_NAME:congenital_aneurysm_of_ascending_aorta_loeys_dietz_syndrome Congenital aneurysm of ascending aorta;Loeys-Dietz syndrome Supplemental_disease_name DISEASE_NAME:congenital_aniridia Congenital aniridia Supplemental_disease_name DISEASE_NAME:congenital_aniridia_cataract_bilateral_microphthalmos Congenital aniridia;Cataract;Bilateral microphthalmos Supplemental_disease_name DISEASE_NAME:congenital_anomalies_of_kidney_and_urinary_tract_1_hereditary_spastic_paraplegia_23 Congenital anomalies of kidney and urinary tract 1;Hereditary spastic paraplegia 23 Supplemental_disease_name DISEASE_NAME:congenital_anomaly_of_face_growth_delay_developmental_delay Congenital anomaly of face;Growth delay;Developmental delay Supplemental_disease_name DISEASE_NAME:congenital_anomaly_of_kidney_and_urinary_tract Congenital anomaly of kidney and urinary tract Supplemental_disease_name DISEASE_NAME:congenital_anomaly_of_kidney_and_urinary_tract_congenital_heart_disease Congenital anomaly of kidney and urinary tract;Congenital heart disease Supplemental_disease_name DISEASE_NAME:congenital_anomaly_of_kidney_and_urinary_tract_klippel_feil_syndrome_1_autosomal_dominant Congenital anomaly of kidney and urinary tract;Klippel-Feil syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:congenital_arthrogryposis_with_anterior_horn_cell_disease Congenital arthrogryposis with anterior horn cell disease Supplemental_disease_name DISEASE_NAME:congenital_atn1_related_disorder Congenital ATN1 related disorder Supplemental_disease_name DISEASE_NAME:congenital_bilateral_absence_of_the_vas_deferens Congenital bilateral absence of the vas deferens Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_bronchiectasis_with_or_without_elevated_sweat_chloride_1_cystic_fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_bronchiectasis_with_or_without_elevated_sweat_chloride_1_cystic_fibrosis_hereditary_pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_bronchiectasis_with_or_without_elevated_sweat_chloride_1_hereditary_pancreatitis_cystic_fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_cystic_fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_cystic_fibrosis_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_cystic_fibrosis_bronchiectasis_with_or_without_elevated_sweat_chloride_1_hereditary_pancreatitis Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_cystic_fibrosis_hereditary_pancreatitis_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_hereditary_pancreatitis_bronchiectasis_with_or_without_elevated_sweat_chloride_1_cystic_fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_hereditary_pancreatitis_cystic_fibrosis_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis;Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:congenital_bilateral_perisylvian_syndrome Congenital bilateral perisylvian syndrome Supplemental_disease_name DISEASE_NAME:congenital_bilateral_perisylvian_syndrome_congenital_fibrosis_of_extraocular_muscles Congenital bilateral perisylvian syndrome;Congenital fibrosis of extraocular muscles Supplemental_disease_name DISEASE_NAME:congenital_bile_acid_synthesis_defect_3_hereditary_spastic_paraplegia_5a Congenital bile acid synthesis defect 3;Hereditary spastic paraplegia 5A Supplemental_disease_name DISEASE_NAME:congenital_bile_acid_synthesis_defect_4_alpha_methylacyl_coa_racemase_deficiency Congenital bile acid synthesis defect 4;Alpha-methylacyl-CoA racemase deficiency Supplemental_disease_name DISEASE_NAME:congenital_blindness Congenital blindness Supplemental_disease_name DISEASE_NAME:congenital_brain_dysgenesis_due_to_glutamine_synthetase_deficiency Congenital brain dysgenesis due to glutamine synthetase deficiency Supplemental_disease_name DISEASE_NAME:congenital_brain_dysgenesis_due_to_glutamine_synthetase_deficiency_developmental_and_epileptic_encephalopathy_116 Congenital brain dysgenesis due to glutamine synthetase deficiency;Developmental and epileptic encephalopathy 116 Supplemental_disease_name DISEASE_NAME:congenital_cardiomyopathy_hearing_impairment_microcephaly_developmental_delay Congenital cardiomyopathy;Hearing impairment;Microcephaly;Developmental delay Supplemental_disease_name DISEASE_NAME:congenital_cataract Congenital cataract Supplemental_disease_name DISEASE_NAME:congenital_cataract_microcephaly_nevus_flammeus_simplex_severe_intellectual_disability_syndrome Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:congenital_cataract_progressive_muscular_hypotonia_hearing_loss_developmental_delay_syndrome Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:congenital_cataracts_facial_dysmorphism_neuropathy_syndrome Congenital cataracts-facial dysmorphism-neuropathy syndrome Supplemental_disease_name DISEASE_NAME:congenital_central_hypoventilation Congenital central hypoventilation Supplemental_disease_name DISEASE_NAME:congenital_central_hypoventilation_neuroblastoma_susceptibility_to_2 Congenital central hypoventilation;Neuroblastoma, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:congenital_central_hypoventilation_syndrome_with_or_without_hirschsprung_disease Congenital central hypoventilation syndrome, with or without Hirschsprung disease Supplemental_disease_name DISEASE_NAME:congenital_cerebellar_hypoplasia Congenital cerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:congenital_cerebellar_hypoplasia_abnormal_ileum_morphology_bronchogenic_cyst_abnormal_facial_shape_abnormal_calvaria_morphology Congenital cerebellar hypoplasia;Abnormal ileum morphology;Bronchogenic cyst;Abnormal facial shape;Abnormal calvaria morphology Supplemental_disease_name DISEASE_NAME:congenital_cerebellar_hypoplasia_corpus_callosum_agenesis_of Congenital cerebellar hypoplasia;Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:congenital_cerebellar_hypoplasia_dystonic_disorder_generalized_hypotonia_global_developmental_delay_visual_impairment Congenital cerebellar hypoplasia;Dystonic disorder;Generalized hypotonia;Global developmental delay;Visual impairment Supplemental_disease_name DISEASE_NAME:congenital_cerebellar_hypoplasia_muscular_dystrophy_cerebellar_ataxia_diabetes_mellitus Congenital cerebellar hypoplasia;Muscular dystrophy;Cerebellar ataxia;Diabetes mellitus Supplemental_disease_name DISEASE_NAME:congenital_cerebellar_hypoplasia_muscular_dystrophy_diabetes_mellitus_cerebellar_ataxia Congenital cerebellar hypoplasia;Muscular dystrophy;Diabetes mellitus;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:congenital_cerebellar_hypoplasia_severe_global_developmental_delay_seizure Congenital cerebellar hypoplasia;Severe global developmental delay;Seizure Supplemental_disease_name DISEASE_NAME:congenital_chromosomal_disease Congenital chromosomal disease Supplemental_disease_name DISEASE_NAME:congenital_contractural_arachnodactyly_macular_degeneration_early_onset Congenital contractural arachnodactyly;Macular degeneration, early-onset Supplemental_disease_name DISEASE_NAME:congenital_contractural_arachnodactyly_marfan_syndrome Congenital contractural arachnodactyly;Marfan syndrome Supplemental_disease_name DISEASE_NAME:congenital_contracture Congenital contracture Supplemental_disease_name DISEASE_NAME:congenital_contracture_breathing_dysregulation_polyhydramnios Congenital contracture;Breathing dysregulation;Polyhydramnios Supplemental_disease_name DISEASE_NAME:congenital_contracture_hypotonia_cardiomyopathy_global_developmental_delay Congenital contracture;Hypotonia;Cardiomyopathy;Global developmental delay Supplemental_disease_name DISEASE_NAME:congenital_contractures_of_the_limbs_and_face_hypotonia_and_developmental_delay_hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_1 Congenital contractures of the limbs and face, hypotonia, and developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Supplemental_disease_name DISEASE_NAME:congenital_corneal_opacity Congenital corneal opacity Supplemental_disease_name DISEASE_NAME:congenital_diaphragamitc_hernia Congenital diaphragamitc hernia Supplemental_disease_name DISEASE_NAME:congenital_diarrhea_5_with_tufting_enteropathy_lynch_syndrome_8 Congenital diarrhea 5 with tufting enteropathy;Lynch syndrome 8 Supplemental_disease_name DISEASE_NAME:congenital_diarrhea_6_intestinal_obstruction_in_the_newborn_due_to_guanylate_cyclase_2c_deficiency Congenital diarrhea 6;Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Supplemental_disease_name DISEASE_NAME:congenital_diarrhea_6_meconium_ileus Congenital diarrhea 6;Meconium ileus Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_connective_tissue Congenital disorder of connective tissue Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_developmental_and_epileptic_encephalopathy_1 Congenital disorder of glycosylation;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_1dd Congenital disorder of glycosylation, type 1DD Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_1e Congenital disorder of glycosylation type 1E Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_1ee_with_or_without_immunodeficiency Congenital disorder of glycosylation type 1EE with or without immunodeficiency Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_2v Congenital disorder of glycosylation, type 2v Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_iaa Congenital disorder of glycosylation, type IAA Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_ibb Congenital disorder of glycosylation, type Ibb Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_icc_x_linked_immunodeficiency_with_magnesium_defect_epstein_barr_virus_infection_and_neoplasia Congenital disorder of glycosylation, type ICC;X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_iicc Congenital disorder of glycosylation, type IIcc Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_iif_modifier_of CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_iir_x_linked_parkinsonism_spasticity_syndrome_syndromic_x_linked_intellectual_disability_hedera_type Congenital disorder of glycosylation, type IIr;X-linked parkinsonism-spasticity syndrome;Syndromic X-linked intellectual disability Hedera type Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_iiw_glucose_6_phosphate_transport_defect Congenital disorder of glycosylation, type IIw;Glucose-6-phosphate transport defect Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_iiw_glucose_6_phosphate_transport_defect_phosphate_transport_defect Congenital disorder of glycosylation, type IIw;Glucose-6-phosphate transport defect;Phosphate transport defect Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_iiw_phosphate_transport_defect_glucose_6_phosphate_transport_defect Congenital disorder of glycosylation, type IIw;Phosphate transport defect;Glucose-6-phosphate transport defect Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_ir Congenital disorder of glycosylation type Ir Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_type_iw_autosomal_dominant Congenital disorder of glycosylation, type Iw, autosomal dominant Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_with_defective_fucosylation_1 Congenital disorder of glycosylation with defective fucosylation 1 Supplemental_disease_name DISEASE_NAME:congenital_disorder_of_glycosylation_with_defective_fucosylation_2 Congenital disorder of glycosylation with defective fucosylation 2 Supplemental_disease_name DISEASE_NAME:congenital_disorders_of_glycosylation_type_ii Congenital disorders of glycosylation type II Supplemental_disease_name DISEASE_NAME:congenital_dyserythropoietic_anemia_type_4_blood_group_lutheran_inhibitor_fetal_hemoglobin_quantitative_trait_locus_6 Congenital dyserythropoietic anemia type 4;BLOOD GROUP--LUTHERAN INHIBITOR;FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 Supplemental_disease_name DISEASE_NAME:congenital_dyserythropoietic_anemia_type_4_fetal_hemoglobin_quantitative_trait_locus_6_blood_group_lutheran_inhibitor Congenital dyserythropoietic anemia type 4;FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6;BLOOD GROUP--LUTHERAN INHIBITOR Supplemental_disease_name DISEASE_NAME:congenital_dyserythropoietic_anemia_type_ii_cowden_syndrome_7 Congenital dyserythropoietic anemia, type II;Cowden syndrome 7 Supplemental_disease_name DISEASE_NAME:congenital_dyserythropoietic_anemia_type_iii Congenital dyserythropoietic anemia, type III Supplemental_disease_name DISEASE_NAME:congenital_dyserythropoietic_anemia_type_type_1b Congenital dyserythropoietic anemia type type 1B Supplemental_disease_name DISEASE_NAME:congenital_erythrocytosis Congenital Erythrocytosis Supplemental_disease_name DISEASE_NAME:congenital_erythropoietic_porphyria Congenital erythropoietic porphyria Supplemental_disease_name DISEASE_NAME:congenital_factor_v_deficiency Congenital factor V deficiency Supplemental_disease_name DISEASE_NAME:congenital_factor_v_deficiency_ischemic_stroke_pregnancy_loss_recurrent_susceptibility_to_1_thrombophilia_due_to_activated_protein_c_resistance_budd_chiari_syndrome Congenital factor V deficiency;Ischemic stroke;Pregnancy loss, recurrent, susceptibility to, 1;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome Supplemental_disease_name DISEASE_NAME:congenital_factor_v_deficiency_pregnancy_loss_recurrent_susceptibility_to_1_ischemic_stroke_thrombophilia_due_to_activated_protein_c_resistance_budd_chiari_syndrome Congenital factor V deficiency;Pregnancy loss, recurrent, susceptibility to, 1;Ischemic stroke;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome Supplemental_disease_name DISEASE_NAME:congenital_factor_v_deficiency_thrombophilia_due_to_activated_protein_c_resistance Congenital factor V deficiency;Thrombophilia due to activated protein C resistance Supplemental_disease_name DISEASE_NAME:congenital_factor_v_deficiency_thrombophilia_due_to_activated_protein_c_resistance_budd_chiari_syndrome_ischemic_stroke_pregnancy_loss_recurrent_susceptibility_to_1 Congenital factor V deficiency;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;Ischemic stroke;Pregnancy loss, recurrent, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_factor_vii_deficiency Congenital factor VII deficiency Supplemental_disease_name DISEASE_NAME:congenital_factor_vii_deficiency_myocardial_infarction_susceptibility_to Congenital factor VII deficiency;Myocardial infarction, susceptibility to Supplemental_disease_name DISEASE_NAME:congenital_fibrosis_of_extraocular_muscles Congenital fibrosis of extraocular muscles Supplemental_disease_name DISEASE_NAME:congenital_fibrosis_of_extraocular_muscles_brain_malformation Congenital fibrosis of extraocular muscles;Brain malformation Supplemental_disease_name DISEASE_NAME:congenital_fibrosis_of_extraocular_muscles_type_1 Congenital fibrosis of extraocular muscles type 1 Supplemental_disease_name DISEASE_NAME:congenital_fibrosis_of_the_extraocular_muscles_1b_complex_cortical_dysplasia_with_other_brain_malformations_1_fibrosis_of_extraocular_muscles_congenital_3a_with_or_without_extraocular_involvement_congenital_fibrosis_of_extraocular_muscles_type_1 Congenital Fibrosis of the Extraocular Muscles 1B;Complex cortical dysplasia with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement;Congenital fibrosis of extraocular muscles type 1 Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_2_hereditary_spastic_paraplegia_17 Congenital generalized lipodystrophy type 2;Hereditary spastic paraplegia 17 Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_2_hereditary_spastic_paraplegia_17_severe_neurodegenerative_syndrome_with_lipodystrophy_neuronopathy_distal_hereditary_motor_type_5c Congenital generalized lipodystrophy type 2;Hereditary spastic paraplegia 17;Severe neurodegenerative syndrome with lipodystrophy;Neuronopathy, distal hereditary motor, type 5C Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_2_neuronopathy_distal_hereditary_motor_type_5a_severe_neurodegenerative_syndrome_with_lipodystrophy_hereditary_spastic_paraplegia_17 Congenital generalized lipodystrophy type 2;Neuronopathy, distal hereditary motor, type 5A;Severe neurodegenerative syndrome with lipodystrophy;Hereditary spastic paraplegia 17 Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_2_neuronopathy_distal_hereditary_motor_type_5c_hereditary_spastic_paraplegia_17_severe_neurodegenerative_syndrome_with_lipodystrophy Congenital generalized lipodystrophy type 2;Neuronopathy, distal hereditary motor, type 5C;Hereditary spastic paraplegia 17;Severe neurodegenerative syndrome with lipodystrophy Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_2_neuronopathy_distal_hereditary_motor_type_5c_severe_neurodegenerative_syndrome_with_lipodystrophy_hereditary_spastic_paraplegia_17 Congenital generalized lipodystrophy type 2;Neuronopathy, distal hereditary motor, type 5C;Severe neurodegenerative syndrome with lipodystrophy;Hereditary spastic paraplegia 17 Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_2_severe_neurodegenerative_syndrome_with_lipodystrophy Congenital generalized lipodystrophy type 2;Severe neurodegenerative syndrome with lipodystrophy Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_2_severe_neurodegenerative_syndrome_with_lipodystrophy_hereditary_spastic_paraplegia_17_neuronopathy_distal_hereditary_motor_type_5c Congenital generalized lipodystrophy type 2;Severe neurodegenerative syndrome with lipodystrophy;Hereditary spastic paraplegia 17;Neuronopathy, distal hereditary motor, type 5C Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_2_severe_neurodegenerative_syndrome_with_lipodystrophy_neuronopathy_distal_hereditary_motor_type_5c_hereditary_spastic_paraplegia_17 Congenital generalized lipodystrophy type 2;Severe neurodegenerative syndrome with lipodystrophy;Neuronopathy, distal hereditary motor, type 5C;Hereditary spastic paraplegia 17 Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_3_partial_lipodystrophy_congenital_cataracts_and_neurodegeneration_syndrome_pulmonary_hypertension_primary_3 Congenital generalized lipodystrophy type 3;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome;Pulmonary hypertension, primary, 3 Supplemental_disease_name DISEASE_NAME:congenital_generalized_lipodystrophy_type_3_pulmonary_hypertension_primary_3_partial_lipodystrophy_congenital_cataracts_and_neurodegeneration_syndrome Congenital generalized lipodystrophy type 3;Pulmonary hypertension, primary, 3;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Supplemental_disease_name DISEASE_NAME:congenital_glaucoma Congenital glaucoma Supplemental_disease_name DISEASE_NAME:congenital_glucose_galactose_malabsorption Congenital glucose/galactose malabsorption Supplemental_disease_name DISEASE_NAME:congenital_heart_anomalies Congenital heart anomalies Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_and_ectodermal_dysplasia Congenital heart defects and ectodermal dysplasia Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_and_skeletal_malformations_syndrome Congenital heart defects and skeletal malformations syndrome Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_and_skeletal_malformations_syndrome_chronic_myeloid_leukemia Congenital heart defects and skeletal malformations syndrome;Chronic myeloid leukemia Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types Congenital heart defects, multiple types Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_1_x_linked Congenital heart defects, multiple types, 1, X-linked Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_2 Congenital heart defects, multiple types, 2 Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_3 Congenital heart defects, multiple types, 3 Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_4 Congenital heart defects, multiple types, 4 Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_5 Congenital heart defects, multiple types, 5 Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_6 Congenital heart defects, multiple types, 6 Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_6_right_atrial_isomerism Congenital heart defects, multiple types, 6;Right atrial isomerism Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_7 Congenital heart defects, multiple types, 7 Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_7_capillary_infantile_hemangioma_hereditary_lymphedema_type_i Congenital heart defects, multiple types, 7;Capillary infantile hemangioma;Hereditary lymphedema type I Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_8_with_or_without_heterotaxy Congenital heart defects, multiple types, 8, with or without heterotaxy Supplemental_disease_name DISEASE_NAME:congenital_heart_defects_multiple_types_9 Congenital heart defects, multiple types, 9 Supplemental_disease_name DISEASE_NAME:congenital_heart_disease_abnormal_skeletal_morphology_failure_to_thrive Congenital heart disease;Abnormal skeletal morphology;Failure to thrive Supplemental_disease_name DISEASE_NAME:congenital_heart_disease_congenital_anomaly_of_kidney_and_urinary_tract Congenital heart disease;Congenital anomaly of kidney and urinary tract Supplemental_disease_name DISEASE_NAME:congenital_heart_disease_noonan_syndrome Congenital heart disease;Noonan syndrome Supplemental_disease_name DISEASE_NAME:congenital_heart_disease_variable Congenital heart disease (variable) Supplemental_disease_name DISEASE_NAME:congenital_hemidysplasia_with_ichthyosiform_erythroderma_and_limb_defects Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Supplemental_disease_name DISEASE_NAME:congenital_hereditary_endothelial_dystrophy_of_cornea_corneal_dystrophy_fuchs_endothelial_4_corneal_dystrophy_perceptive_deafness_syndrome Congenital hereditary endothelial dystrophy of cornea;Corneal dystrophy, Fuchs endothelial, 4;Corneal dystrophy-perceptive deafness syndrome Supplemental_disease_name DISEASE_NAME:congenital_hereditary_endothelial_dystrophy_of_cornea_corneal_dystrophy_perceptive_deafness_syndrome_corneal_dystrophy_fuchs_endothelial_4 Congenital hereditary endothelial dystrophy of cornea;Corneal dystrophy-perceptive deafness syndrome;Corneal dystrophy, Fuchs endothelial, 4 Supplemental_disease_name DISEASE_NAME:congenital_hip_dislocation_congenital_muscular_dystrophy_generalized_muscle_weakness_emg_myopathic_abnormalities Congenital hip dislocation;Congenital muscular dystrophy;Generalized muscle weakness;EMG: myopathic abnormalities Supplemental_disease_name DISEASE_NAME:congenital_hyperammonemia Congenital hyperammonemia Supplemental_disease_name DISEASE_NAME:congenital_hyperammonemia_type_i Congenital hyperammonemia, type I Supplemental_disease_name DISEASE_NAME:congenital_hyperammonemia_type_i_pulmonary_hypertension_neonatal_susceptibility_to Congenital hyperammonemia, type I;Pulmonary hypertension, neonatal, susceptibility to Supplemental_disease_name DISEASE_NAME:congenital_hypogonadotropic_hypogonadism Congenital hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:congenital_hypomyelination_neuropathy_with_or_without_arthrogryposis Congenital hypomyelination neuropathy with or without arthrogryposis Supplemental_disease_name DISEASE_NAME:congenital_hypothalamic_hamartoma_syndrome Congenital hypothalamic hamartoma syndrome Supplemental_disease_name DISEASE_NAME:congenital_hypothalamic_hamartoma_syndrome_basal_cell_carcinoma_susceptibility_to_1_curry_jones_syndrome Congenital hypothalamic hamartoma syndrome;Basal cell carcinoma, susceptibility to, 1;Curry-Jones syndrome Supplemental_disease_name DISEASE_NAME:congenital_hypothyreodism congenital hypothyreodism Supplemental_disease_name DISEASE_NAME:congenital_hypotonia_epilepsy_developmental_delay_and_digital_anomalies Congenital hypotonia, epilepsy, developmental delay, and digital anomalies Supplemental_disease_name DISEASE_NAME:congenital_hypotonia_epilepsy_developmental_delay_and_digital_anomalies_dentatorubral_pallidoluysian_atrophy Congenital hypotonia, epilepsy, developmental delay, and digital anomalies;Dentatorubral-pallidoluysian atrophy Supplemental_disease_name DISEASE_NAME:congenital_hypotrichosis_with_juvenile_macular_dystrophy_eem_syndrome Congenital hypotrichosis with juvenile macular dystrophy;EEM syndrome Supplemental_disease_name DISEASE_NAME:congenital_ichthyosiform_erythroderma Congenital ichthyosiform erythroderma Supplemental_disease_name DISEASE_NAME:congenital_ichthyosiform_erythroderma_congenital_nonbullous_ichthyosiform_erythroderma Congenital ichthyosiform erythroderma;Congenital nonbullous ichthyosiform erythroderma Supplemental_disease_name DISEASE_NAME:congenital_ichthyosiform_erythroderma_exocrine_pancreatic_insufficiency_scoliosis_failure_to_thrive Congenital ichthyosiform erythroderma;Exocrine pancreatic insufficiency;Scoliosis;Failure to thrive Supplemental_disease_name DISEASE_NAME:congenital_ichthyosis_intellectual_disability_spastic_quadriplegia_syndrome Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Supplemental_disease_name DISEASE_NAME:congenital_ichthyosis_intellectual_disability_spastic_quadriplegia_syndrome_spinocerebellar_ataxia_type_34_stargardt_disease_3 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome;Spinocerebellar ataxia type 34;Stargardt disease 3 Supplemental_disease_name DISEASE_NAME:congenital_ichthyosis_of_skin Congenital ichthyosis of skin Supplemental_disease_name DISEASE_NAME:congenital_insensitivity_to_pain_hypohidrosis_syndrome Congenital insensitivity to pain-hypohidrosis syndrome Supplemental_disease_name DISEASE_NAME:congenital_isolated_adrenocorticotropic_hormone_deficiency Congenital isolated adrenocorticotropic hormone deficiency Supplemental_disease_name DISEASE_NAME:congenital_isolated_hyperinsulinism Congenital isolated hyperinsulinism Supplemental_disease_name DISEASE_NAME:congenital_lactic_acidosis Congenital lactic acidosis Supplemental_disease_name DISEASE_NAME:congenital_lactic_acidosis_mitochondrial_complex_iv_deficiency_nuclear_type_1 Congenital lactic acidosis;Mitochondrial complex IV deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:congenital_lactic_acidosis_saguenay_lac_saint_jean_type Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Supplemental_disease_name DISEASE_NAME:congenital_limb_malformation Congenital limb malformation Supplemental_disease_name DISEASE_NAME:congenital_lipoid_adrenal_hyperplasia_due_to_star_deficency Congenital lipoid adrenal hyperplasia due to STAR deficency Supplemental_disease_name DISEASE_NAME:congenital_long_qt_syndrome Congenital long QT syndrome Supplemental_disease_name DISEASE_NAME:congenital_long_qt_syndrome_brugada_syndrome Congenital long QT syndrome;Brugada syndrome Supplemental_disease_name DISEASE_NAME:congenital_long_qt_syndrome_jervell_and_lange_nielsen_syndrome Congenital long QT syndrome;Jervell and Lange-Nielsen syndrome Supplemental_disease_name DISEASE_NAME:congenital_long_qt_syndrome_rare_genetic_deafness_jervell_and_lange_nielsen_syndrome Congenital long QT syndrome;Rare genetic deafness;Jervell and Lange-Nielsen syndrome Supplemental_disease_name DISEASE_NAME:congenital_macrodactylia Congenital macrodactylia Supplemental_disease_name DISEASE_NAME:congenital_membranous_nephropathy_due_to_maternal_anti_neutral_endopeptidase_alloimmunization Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Supplemental_disease_name DISEASE_NAME:congenital_microcephaly_severe_encephalopathy_progressive_cerebral_atrophy_syndrome Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Supplemental_disease_name DISEASE_NAME:congenital_microvillous_atrophy Congenital microvillous atrophy Supplemental_disease_name DISEASE_NAME:congenital_microvillous_atrophy_cholestasis_progressive_familial_intrahepatic_10 Congenital microvillous atrophy;Cholestasis, progressive familial intrahepatic, 10 Supplemental_disease_name DISEASE_NAME:congenital_miosis Congenital miosis Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_king_denborough_syndrome Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1 Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1 Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Central core myopathy;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_king_denborough_syndrome Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;Central core myopathy;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_central_core_myopathy Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1 Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Central core myopathy;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1 Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Central core myopathy;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_king_denborough_syndrome Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Central core myopathy;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_king_denborough_syndrome Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Central core myopathy;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_myopathy_ryr1_associated Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Central core myopathy;Myopathy, RYR1-associated Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome_central_core_myopathy Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;King Denborough syndrome;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_central_core_myopathy Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Central core myopathy;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital myopathy with fiber type disproportion;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_multicore_myopathy_with_external_ophthalmoplegia_myopathy_ryr1_associated_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy Congenital multicore myopathy with external ophthalmoplegia;Myopathy, RYR1-associated;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_muscular_disorder Congenital muscular disorder Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_alpha_dystroglycan_related Congenital Muscular Dystrophy, alpha-dystroglycan related Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_due_to_lmna_mutation_dilated_cardiomyopathy_1a Congenital muscular dystrophy due to LMNA mutation;Dilated cardiomyopathy 1A Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_due_to_lmna_mutation_dilated_cardiomyopathy_1a_emery_dreifuss_muscular_dystrophy_2_autosomal_dominant_hutchinson_gilford_syndrome_charcot_marie_tooth_disease_type_2b1 Congenital muscular dystrophy due to LMNA mutation;Dilated cardiomyopathy 1A;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Hutchinson-Gilford syndrome;Charcot-Marie-Tooth disease type 2B1 Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_due_to_lmna_mutation_emery_dreifuss_muscular_dystrophy_3_autosomal_recessive_familial_partial_lipodystrophy_dunnigan_type_dilated_cardiomyopathy_1a_emery_dreifuss_muscular_dystrophy_2_autosomal_dominant Congenital muscular dystrophy due to LMNA mutation;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Familial partial lipodystrophy, Dunnigan type;Dilated cardiomyopathy 1A;Emery-Dreifuss muscular dystrophy 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_due_to_lmna_mutation_emery_dreifuss_muscular_dystrophy_3_autosomal_recessive_familial_partial_lipodystrophy_dunnigan_type_emery_dreifuss_muscular_dystrophy_2_autosomal_dominant Congenital muscular dystrophy due to LMNA mutation;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Familial partial lipodystrophy, Dunnigan type;Emery-Dreifuss muscular dystrophy 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_due_to_partial_lama2_deficiency Congenital muscular dystrophy due to partial LAMA2 deficiency Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_generalized_muscle_weakness_congenital_hip_dislocation_emg_myopathic_abnormalities Congenital muscular dystrophy;Generalized muscle weakness;Congenital hip dislocation;EMG: myopathic abnormalities Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_lama2_related Congenital Muscular Dystrophy, LAMA2-related Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_muscle_weakness Congenital muscular dystrophy;Muscle weakness Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_myopathy_respiratory_insufficiency Congenital muscular dystrophy;Myopathy;Respiratory insufficiency Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_respiratory_failure_skin_abnormalities_joint_hyperlaxity_syndrome Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_respiratory_failure_skin_abnormalities_joint_hyperlaxity_syndrome_spinal_muscular_atrophy_with_congenital_bone_fractures_1 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome;Spinal muscular atrophy with congenital bone fractures 1 Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_with_intellectual_disability_and_severe_epilepsy Congenital muscular dystrophy with intellectual disability and severe epilepsy Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_with_rigid_spine Congenital muscular dystrophy with rigid spine Supplemental_disease_name DISEASE_NAME:congenital_muscular_hypertrophy_cerebral_syndrome Congenital muscular hypertrophy-cerebral syndrome Supplemental_disease_name DISEASE_NAME:congenital_muscular_hypertrophy_cerebral_syndrome_developmental_and_epileptic_encephalopathy_85_with_or_without_midline_brain_defects Congenital muscular hypertrophy-cerebral syndrome;Developmental and epileptic encephalopathy, 85, with or without midline brain defects Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_10_fetal_akinesia_deformation_sequence_1 Congenital myasthenic syndrome 10;Fetal akinesia deformation sequence 1 Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_10_fetal_akinesia_deformation_sequence_3 Congenital myasthenic syndrome 10;Fetal akinesia deformation sequence 3 Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_11_fetal_akinesia_deformation_sequence_1 Congenital myasthenic syndrome 11;Fetal akinesia deformation sequence 1 Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_11_fetal_akinesia_deformation_sequence_2 Congenital myasthenic syndrome 11;Fetal akinesia deformation sequence 2 Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_13_dpagt1_congenital_disorder_of_glycosylation Congenital myasthenic syndrome 13;DPAGT1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_14_alg2_congenital_disorder_of_glycosylation Congenital myasthenic syndrome 14;ALG2-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_16_hypokalemic_periodic_paralysis_type_2_potassium_aggravated_myotonia_paramyotonia_congenita_of_von_eulenburg_hyperkalemic_periodic_paralysis Congenital myasthenic syndrome 16;Hypokalemic periodic paralysis, type 2;Potassium-aggravated myotonia;Paramyotonia congenita of Von Eulenburg;Hyperkalemic periodic paralysis Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_17_cenani_lenz_syndactyly_syndrome_sclerosteosis_2 Congenital myasthenic syndrome 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2 Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_17_sclerosteosis_2_cenani_lenz_syndactyly_syndrome Congenital myasthenic syndrome 17;Sclerosteosis 2;Cenani-Lenz syndactyly syndrome Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_1a_lethal_multiple_pterygium_syndrome_myasthenic_syndrome_congenital_1b_fast_channel Congenital myasthenic syndrome 1A;Lethal multiple pterygium syndrome;Myasthenic syndrome, congenital, 1B, fast-channel Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_1a_myasthenic_syndrome_congenital_1b_fast_channel Congenital myasthenic syndrome 1A;Myasthenic syndrome, congenital, 1B, fast-channel Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_20_neuronopathy_distal_hereditary_motor_type_7a Congenital myasthenic syndrome 20;Neuronopathy, distal hereditary motor, type 7A Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_2a_congenital_myasthenic_syndrome_2c Congenital myasthenic syndrome 2A;Congenital myasthenic syndrome 2C Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_2c_congenital_myasthenic_syndrome_2a Congenital myasthenic syndrome 2C;Congenital myasthenic syndrome 2A Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_3a_congenital_myasthenic_syndrome_3b_congenital_myasthenic_syndrome_3c Congenital myasthenic syndrome 3A;Congenital myasthenic syndrome 3B;Congenital myasthenic syndrome 3C Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_3a_congenital_myasthenic_syndrome_3b_congenital_myasthenic_syndrome_3c_lethal_multiple_pterygium_syndrome Congenital myasthenic syndrome 3A;Congenital myasthenic syndrome 3B;Congenital myasthenic syndrome 3C;Lethal multiple pterygium syndrome Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_3a_congenital_myasthenic_syndrome_3c Congenital myasthenic syndrome 3A;Congenital myasthenic syndrome 3C Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_3b_congenital_myasthenic_syndrome_3c_lethal_multiple_pterygium_syndrome Congenital myasthenic syndrome 3B;Congenital myasthenic syndrome 3C;Lethal multiple pterygium syndrome Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_3c_congenital_myasthenic_syndrome_3a_congenital_myasthenic_syndrome_3b_lethal_multiple_pterygium_syndrome Congenital myasthenic syndrome 3C;Congenital myasthenic syndrome 3A;Congenital myasthenic syndrome 3B;Lethal multiple pterygium syndrome Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4 Congenital myasthenic syndrome 4 Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4a_congenital_myasthenic_syndrome_4b Congenital myasthenic syndrome 4A;Congenital myasthenic syndrome 4B Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4a_congenital_myasthenic_syndrome_4b_congenital_myasthenic_syndrome_4c Congenital myasthenic syndrome 4A;Congenital myasthenic syndrome 4B;Congenital myasthenic syndrome 4C Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4a_congenital_myasthenic_syndrome_4c_congenital_myasthenic_syndrome_4b Congenital myasthenic syndrome 4A;Congenital myasthenic syndrome 4C;Congenital myasthenic syndrome 4B Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4b_congenital_myasthenic_syndrome_4a Congenital myasthenic syndrome 4B;Congenital myasthenic syndrome 4A Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4b_congenital_myasthenic_syndrome_4a_congenital_myasthenic_syndrome_4c Congenital myasthenic syndrome 4B;Congenital myasthenic syndrome 4A;Congenital myasthenic syndrome 4C Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4b_congenital_myasthenic_syndrome_4c_congenital_myasthenic_syndrome_4a Congenital myasthenic syndrome 4B;Congenital myasthenic syndrome 4C;Congenital myasthenic syndrome 4A Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4c_congenital_myasthenic_syndrome_12 Congenital myasthenic syndrome 4C;Congenital myasthenic syndrome 12 Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4c_congenital_myasthenic_syndrome_4a_congenital_myasthenic_syndrome_4b Congenital myasthenic syndrome 4C;Congenital myasthenic syndrome 4A;Congenital myasthenic syndrome 4B Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_4c_congenital_myasthenic_syndrome_4b_congenital_myasthenic_syndrome_4a Congenital myasthenic syndrome 4C;Congenital myasthenic syndrome 4B;Congenital myasthenic syndrome 4A Supplemental_disease_name DISEASE_NAME:congenital_myasthenic_syndrome_9_fetal_akinesia_deformation_sequence_1 Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_10b_mild_variant Congenital myopathy 10b, mild variant Supplemental_disease_name DISEASE_NAME:congenital_myopathy_10b_mild_variant_megf10_related_myopathy Congenital myopathy 10b, mild variant;MEGF10-related myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_11 Congenital myopathy 11 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_18_hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5_thyrotoxic_periodic_paralysis_susceptibility_to_1 Congenital myopathy 18;Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5;Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_18_hypokalemic_periodic_paralysis_type_1_thyrotoxic_periodic_paralysis_susceptibility_to_1_malignant_hyperthermia_susceptibility_to_5 Congenital myopathy 18;Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_18_malignant_hyperthermia_susceptibility_to_5_hypokalemic_periodic_paralysis_type_1_thyrotoxic_periodic_paralysis_susceptibility_to_1 Congenital myopathy 18;Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_18_malignant_hyperthermia_susceptibility_to_5_thyrotoxic_periodic_paralysis_susceptibility_to_1_hypokalemic_periodic_paralysis_type_1 Congenital myopathy 18;Malignant hyperthermia, susceptibility to, 5;Thyrotoxic periodic paralysis, susceptibility to, 1;Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_18_thyrotoxic_periodic_paralysis_susceptibility_to_1_hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5 Congenital myopathy 18;Thyrotoxic periodic paralysis, susceptibility to, 1;Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_18_thyrotoxic_periodic_paralysis_susceptibility_to_1_malignant_hyperthermia_susceptibility_to_5_hypokalemic_periodic_paralysis_type_1 Congenital myopathy 18;Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_22a_classic Congenital myopathy 22A, classic Supplemental_disease_name DISEASE_NAME:congenital_myopathy_22a_classic_congenital_myopathy_22b_severe_fetal_congenital_myasthenic_syndrome_16 Congenital myopathy 22A, classic;Congenital myopathy 22B, severe fetal;Congenital myasthenic syndrome 16 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_22b_severe_fetal Congenital myopathy 22B, severe fetal Supplemental_disease_name DISEASE_NAME:congenital_myopathy_23_arthrogryposis_distal_type_1a_congenital_myopathy_with_fiber_type_disproportion Congenital myopathy 23;Arthrogryposis, distal, type 1A;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:congenital_myopathy_29_with_contractures Congenital myopathy 29 with contractures Supplemental_disease_name DISEASE_NAME:congenital_myopathy_2b_severe_infantile_autosomal_recessive Congenital myopathy 2b, severe infantile, autosomal recessive Supplemental_disease_name DISEASE_NAME:congenital_myopathy_2b_severe_infantile_autosomal_recessive_actin_accumulation_myopathy_congenital_myopathy_2c_severe_infantile_autosomal_dominant_progressive_scapulohumeroperoneal_distal_myopathy Congenital myopathy 2b, severe infantile, autosomal recessive;Actin accumulation myopathy;Congenital myopathy 2c, severe infantile, autosomal dominant;Progressive scapulohumeroperoneal distal myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_2b_severe_infantile_autosomal_recessive_congenital_myopathy_2c_severe_infantile_autosomal_dominant_actin_accumulation_myopathy_progressive_scapulohumeroperoneal_distal_myopathy Congenital myopathy 2b, severe infantile, autosomal recessive;Congenital myopathy 2c, severe infantile, autosomal dominant;Actin accumulation myopathy;Progressive scapulohumeroperoneal distal myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_2c_severe_infantile_autosomal_dominant Congenital myopathy 2c, severe infantile, autosomal dominant Supplemental_disease_name DISEASE_NAME:congenital_myopathy_2c_severe_infantile_autosomal_dominant_actin_accumulation_myopathy Congenital myopathy 2c, severe infantile, autosomal dominant;Actin accumulation myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_4a_autosomal_dominant Congenital myopathy 4A, autosomal dominant Supplemental_disease_name DISEASE_NAME:congenital_myopathy_4a_autosomal_dominant_actin_accumulation_myopathy_progressive_scapulohumeroperoneal_distal_myopathy Congenital myopathy 4A, autosomal dominant;Actin accumulation myopathy;Progressive scapulohumeroperoneal distal myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_4a_autosomal_dominant_congenital_myopathy_4b_autosomal_recessive Congenital myopathy 4A, autosomal dominant;Congenital myopathy 4B, autosomal recessive Supplemental_disease_name DISEASE_NAME:congenital_myopathy_4a_autosomal_dominant_eichsfeld_type_congenital_muscular_dystrophy Congenital myopathy 4A, autosomal dominant;Eichsfeld type congenital muscular dystrophy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_4b_autosomal_recessive Congenital myopathy 4B, autosomal recessive Supplemental_disease_name DISEASE_NAME:congenital_myopathy_4b_autosomal_recessive_congenital_myopathy_with_fiber_type_disproportion Congenital myopathy 4B, autosomal recessive;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:congenital_myopathy_hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5 Congenital myopathy;Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_cores Congenital myopathy with cores Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_arthrogryposis_distal_type_1a_congenital_myopathy_23 Congenital myopathy with fiber type disproportion;Arthrogryposis, distal, type 1A;Congenital myopathy 23 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1 Congenital myopathy with fiber type disproportion;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome Congenital myopathy with fiber type disproportion;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1 Congenital myopathy with fiber type disproportion;Central core myopathy;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia Congenital myopathy with fiber type disproportion;Central core myopathy;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia Congenital myopathy with fiber type disproportion;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome Congenital myopathy with fiber type disproportion;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_myopathy_ryr1_associated_malignant_hyperthermia_susceptibility_to_1_multiminicore_myopathy Congenital myopathy with fiber type disproportion;Central core myopathy;Myopathy, RYR1-associated;Malignant hyperthermia, susceptibility to, 1;Multiminicore myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1 Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Central core myopathy;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_central_core_myopathy Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_congenital_myopathy_4b_autosomal_recessive Congenital myopathy with fiber type disproportion;Congenital myopathy 4B, autosomal recessive Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_eichsfeld_type_congenital_muscular_dystrophy Congenital myopathy with fiber type disproportion;Eichsfeld type congenital muscular dystrophy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia Congenital myopathy with fiber type disproportion;King Denborough syndrome;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1 Congenital myopathy with fiber type disproportion;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy Congenital myopathy with fiber type disproportion;King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_king_denborough_syndrome Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_fiber_type_disproportion_progressive_scapulohumeroperoneal_distal_myopathy_actin_accumulation_myopathy Congenital myopathy with fiber type disproportion;Progressive scapulohumeroperoneal distal myopathy;Actin accumulation myopathy Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_internal_nuclei_and_atypical_cores Congenital myopathy with internal nuclei and atypical cores Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_myasthenic_like_onset Congenital myopathy with myasthenic-like onset Supplemental_disease_name DISEASE_NAME:congenital_myopathy_with_reduced_type_2_muscle_fibers Congenital myopathy with reduced type 2 muscle fibers Supplemental_disease_name DISEASE_NAME:congenital_myotonia_autosomal_dominant_form_congenital_myotonia_autosomal_recessive_form Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal recessive form Supplemental_disease_name DISEASE_NAME:congenital_myotonia_autosomal_dominant_form_myotonia_levior_congenital_myotonia_autosomal_recessive_form Congenital myotonia, autosomal dominant form;Myotonia levior;Congenital myotonia, autosomal recessive form Supplemental_disease_name DISEASE_NAME:congenital_myotonia_autosomal_recessive_form Congenital myotonia, autosomal recessive form Supplemental_disease_name DISEASE_NAME:congenital_myotonia_autosomal_recessive_form_congenital_myotonia_autosomal_dominant_form Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form Supplemental_disease_name DISEASE_NAME:congenital_nad_deficiency_disorder Congenital NAD deficiency disorder Supplemental_disease_name DISEASE_NAME:congenital_neutropenia Congenital neutropenia Supplemental_disease_name DISEASE_NAME:congenital_nonbullous_ichthyosiform_erythroderma Congenital nonbullous ichthyosiform erythroderma Supplemental_disease_name DISEASE_NAME:congenital_nonprogressive_myopathy_with_moebius_and_robin_sequences Congenital nonprogressive myopathy with Moebius and Robin sequences Supplemental_disease_name DISEASE_NAME:congenital_nuclear_cataract Congenital nuclear cataract Supplemental_disease_name DISEASE_NAME:congenital_ocular_coloboma_hypotonia_intellectual_deficiency Congenital ocular coloboma;Hypotonia;intellectual deficiency Supplemental_disease_name DISEASE_NAME:congenital_ocular_coloboma_microphthalmia_dysplastic_corpus_callosum Congenital ocular coloboma;Microphthalmia;Dysplastic corpus callosum Supplemental_disease_name DISEASE_NAME:congenital_omphalocele Congenital omphalocele Supplemental_disease_name DISEASE_NAME:congenital_omphalocele_ambiguous_genitalia_orofacial_cleft_hypotonia Congenital omphalocele;Ambiguous genitalia;Orofacial cleft;Hypotonia Supplemental_disease_name DISEASE_NAME:congenital_omphalocele_congenital_contracture Congenital omphalocele;Congenital contracture Supplemental_disease_name DISEASE_NAME:congenital_omphalocele_hypoplasia_of_the_corpus_callosum_micrognathia Congenital omphalocele;Hypoplasia of the corpus callosum;Micrognathia Supplemental_disease_name DISEASE_NAME:congenital_plasminogen_activator_inhibitor_type_1_deficiency Congenital plasminogen activator inhibitor type 1 deficiency Supplemental_disease_name DISEASE_NAME:congenital_pontocerebellar_hypoplasia Congenital pontocerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:congenital_pontocerebellar_hypoplasia_type_1 Congenital pontocerebellar hypoplasia type 1 Supplemental_disease_name DISEASE_NAME:congenital_portosystemic_shunt Congenital portosystemic shunt Supplemental_disease_name DISEASE_NAME:congenital_primary_aphakia Congenital primary aphakia Supplemental_disease_name DISEASE_NAME:congenital_primary_aphakia_anterior_segment_dysgenesis Congenital primary aphakia;Anterior segment dysgenesis Supplemental_disease_name DISEASE_NAME:congenital_primary_aphakia_aortic_aneurysm_familial_thoracic_11_susceptibility_to Congenital primary aphakia;Aortic aneurysm, familial thoracic 11, susceptibility to Supplemental_disease_name DISEASE_NAME:congenital_primary_aphakia_cataract_34_multiple_types Congenital primary aphakia;Cataract 34 multiple types Supplemental_disease_name DISEASE_NAME:congenital_primary_aphakia_cataract_34_multiple_types_aortic_aneurysm_familial_thoracic_11_susceptibility_to Congenital primary aphakia;Cataract 34 multiple types;Aortic aneurysm, familial thoracic 11, susceptibility to Supplemental_disease_name DISEASE_NAME:congenital_progressive_bone_marrow_failure_b_cell_immunodeficiency_skeletal_dysplasia_syndrome Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:congenital_prothrombin_deficiency Congenital prothrombin deficiency Supplemental_disease_name DISEASE_NAME:congenital_prothrombin_deficiency_pregnancy_loss_recurrent_susceptibility_to_2_ischemic_stroke_thrombophilia_due_to_thrombin_defect Congenital prothrombin deficiency;Pregnancy loss, recurrent, susceptibility to, 2;Ischemic stroke;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:congenital_prothrombin_deficiency_thrombophilia_due_to_thrombin_defect_ischemic_stroke_pregnancy_loss_recurrent_susceptibility_to_2 Congenital prothrombin deficiency;Thrombophilia due to thrombin defect;Ischemic stroke;Pregnancy loss, recurrent, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:congenital_pulmonary_airway_malformations Congenital Pulmonary Airway Malformations Supplemental_disease_name DISEASE_NAME:congenital_reticular_ichthyosiform_erythroderma Congenital reticular ichthyosiform erythroderma Supplemental_disease_name DISEASE_NAME:congenital_reticular_ichthyosiform_erythroderma_annular_epidermolytic_ichthyosis_epidermolytic_ichthyosis Congenital reticular ichthyosiform erythroderma;Annular epidermolytic ichthyosis;Epidermolytic ichthyosis Supplemental_disease_name DISEASE_NAME:congenital_reticular_ichthyosiform_erythroderma_epidermolytic_hyperkeratosis_2b_autosomal_recessive_epidermolytic_hyperkeratosis_2a_autosomal_dominant_ichthyosis_annular_epidermolytic_1_ichthyosis_hystrix_gravior Congenital reticular ichthyosiform erythroderma;Epidermolytic hyperkeratosis 2B, autosomal recessive;Epidermolytic hyperkeratosis 2A, autosomal dominant;Ichthyosis, annular epidermolytic 1;Ichthyosis hystrix gravior Supplemental_disease_name DISEASE_NAME:congenital_reticular_ichthyosiform_erythroderma_epidermolytic_hyperkeratosis_2b_autosomal_recessive_ichthyosis_annular_epidermolytic_1_epidermolytic_hyperkeratosis_2a_autosomal_dominant_ichthyosis_hystrix_gravior Congenital reticular ichthyosiform erythroderma;Epidermolytic hyperkeratosis 2B, autosomal recessive;Ichthyosis, annular epidermolytic 1;Epidermolytic hyperkeratosis 2A, autosomal dominant;Ichthyosis hystrix gravior Supplemental_disease_name DISEASE_NAME:congenital_reticular_ichthyosiform_erythroderma_epidermolytic_ichthyosis_annular_epidermolytic_ichthyosis Congenital reticular ichthyosiform erythroderma;Epidermolytic ichthyosis;Annular epidermolytic ichthyosis Supplemental_disease_name DISEASE_NAME:congenital_reticular_ichthyosiform_erythroderma_ichthyosis_hystrix_gravior_epidermolytic_hyperkeratosis_1_ichthyosis_annular_epidermolytic_1 Congenital reticular ichthyosiform erythroderma;Ichthyosis hystrix gravior;Epidermolytic hyperkeratosis 1;Ichthyosis, annular epidermolytic 1 Supplemental_disease_name DISEASE_NAME:congenital_scoliosis Congenital scoliosis Supplemental_disease_name DISEASE_NAME:congenital_secretory_diarrhea_chloride_type Congenital secretory diarrhea, chloride type Supplemental_disease_name DISEASE_NAME:congenital_sensorineural_hearing_impairment Congenital sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:congenital_sensorineural_hearing_impairment_severe_sensorineural_hearing_impairment_abnormal_pinna_morphology Congenital sensorineural hearing impairment;Severe sensorineural hearing impairment;Abnormal pinna morphology Supplemental_disease_name DISEASE_NAME:congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers Congenital sensory neuropathy with selective loss of small myelinated fibers Supplemental_disease_name DISEASE_NAME:congenital_short_bowel_syndrome Congenital short bowel syndrome Supplemental_disease_name DISEASE_NAME:congenital_short_bowel_syndrome_autosomal_recessive Congenital short bowel syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:congenital_short_bowel_syndrome_x_linked CONGENITAL SHORT BOWEL SYNDROME, X-LINKED Supplemental_disease_name DISEASE_NAME:congenital_sideroblastic_anemia_b_cell_immunodeficiency_periodic_fever_developmental_delay_syndrome Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:congenital_sideroblastic_anemia_b_cell_immunodeficiency_periodic_fever_developmental_delay_syndrome_retinitis_pigmentosa_and_erythrocytic_microcytosis Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome;Retinitis pigmentosa and erythrocytic microcytosis Supplemental_disease_name DISEASE_NAME:congenital_smooth_muscle_hamartoma Congenital smooth muscle hamartoma Supplemental_disease_name DISEASE_NAME:congenital_smooth_muscle_hamartoma_somatic_mosaic CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC Supplemental_disease_name DISEASE_NAME:congenital_smooth_muscle_hamartoma_with_hemihypertrophy_somatic_mosaic CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC Supplemental_disease_name DISEASE_NAME:congenital_sodium_diarrhea Congenital sodium diarrhea Supplemental_disease_name DISEASE_NAME:congenital_stationary_night_blindness_1g_congenital_stationary_night_blindness_autosomal_dominant_3 Congenital stationary night blindness 1G;Congenital stationary night blindness autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:congenital_stationary_night_blindness_1h_essential_hypertension_genetic Congenital stationary night blindness 1H;Essential hypertension, genetic Supplemental_disease_name DISEASE_NAME:congenital_stationary_night_blindness_2a_aland_island_eye_disease_x_linked_cone_rod_dystrophy_3 Congenital stationary night blindness 2A;Aland island eye disease;X-linked cone-rod dystrophy 3 Supplemental_disease_name DISEASE_NAME:congenital_stationary_night_blindness_autosomal_dominant_1_pigmentary_retinal_dystrophy_retinitis_pigmentosa_4 Congenital stationary night blindness autosomal dominant 1;Pigmentary retinal dystrophy;Retinitis pigmentosa 4 Supplemental_disease_name DISEASE_NAME:congenital_stationary_night_blindness_autosomal_dominant_1_retinitis_pigmentosa_4 Congenital stationary night blindness autosomal dominant 1;Retinitis pigmentosa 4 Supplemental_disease_name DISEASE_NAME:congenital_stationary_night_blindness_autosomal_dominant_1_retinitis_pigmentosa_4_pigmentary_retinal_dystrophy Congenital stationary night blindness autosomal dominant 1;Retinitis pigmentosa 4;Pigmentary retinal dystrophy Supplemental_disease_name DISEASE_NAME:congenital_stationary_night_blindness_autosomal_dominant_2_retinitis_pigmentosa_40 Congenital stationary night blindness autosomal dominant 2;Retinitis pigmentosa 40 Supplemental_disease_name DISEASE_NAME:congenital_stationary_night_blindness_type_2a_severe Congenital stationary night blindness, type 2A, severe Supplemental_disease_name DISEASE_NAME:congenital_sucrose_isomaltase_deficiency Congenital sucrose-isomaltase deficiency Supplemental_disease_name DISEASE_NAME:congenital_syndromic_hypopituitarism Congenital syndromic hypopituitarism Supplemental_disease_name DISEASE_NAME:congenital_systemic_glutamine_deficiency Congenital systemic glutamine deficiency Supplemental_disease_name DISEASE_NAME:congenital_titinopathy Congenital titinopathy Supplemental_disease_name DISEASE_NAME:congenital_titinopathy_early_onset_myopathy_with_fatal_cardiomyopathy Congenital titinopathy;Early-onset myopathy with fatal cardiomyopathy Supplemental_disease_name DISEASE_NAME:congenital_total_pulmonary_venous_return_anomaly Congenital total pulmonary venous return anomaly Supplemental_disease_name DISEASE_NAME:congenital_tufted_angioma_pyogenic_granuloma_kaposiform_hemangioendothelioma Congenital tufted angioma;Pyogenic granuloma;Kaposiform hemangioendothelioma Supplemental_disease_name DISEASE_NAME:congenitally_corrected_transposition_of_the_great_arteries Congenitally corrected transposition of the great arteries Supplemental_disease_name DISEASE_NAME:congestive_heart_failure_cardiomyopathy_hypertrophic_cardiomyopathy Congestive heart failure;Cardiomyopathy;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:congestive_heart_failure_hypertrophic_cardiomyopathy Congestive heart failure;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:connective_and_soft_tissue_disorder Connective and Soft Tissue Disorder Supplemental_disease_name DISEASE_NAME:connective_tissue_dysplasia Connective tissue dysplasia Supplemental_disease_name DISEASE_NAME:connective_tissue_nevi_seizure Connective tissue nevi;Seizure Supplemental_disease_name DISEASE_NAME:conotruncal_anomaly_face_syndrome Conotruncal anomaly face syndrome Supplemental_disease_name DISEASE_NAME:conotruncal_defect Conotruncal defect Supplemental_disease_name DISEASE_NAME:conotruncal_heart_malformations Conotruncal heart malformations Supplemental_disease_name DISEASE_NAME:conotruncal_heart_malformations_digeorge_syndrome_tetralogy_of_fallot_velocardiofacial_syndrome Conotruncal heart malformations;DiGeorge syndrome;Tetralogy of Fallot;Velocardiofacial syndrome Supplemental_disease_name DISEASE_NAME:conotruncal_heart_malformations_digeorge_syndrome_velocardiofacial_syndrome_tetralogy_of_fallot Conotruncal heart malformations;DiGeorge syndrome;Velocardiofacial syndrome;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:conotruncal_heart_malformations_hypoplastic_left_heart_syndrome_2_ventricular_septal_defect_3_tetralogy_of_fallot_atrial_septal_defect_7 Conotruncal heart malformations;Hypoplastic left heart syndrome 2;Ventricular septal defect 3;Tetralogy of Fallot;Atrial septal defect 7 Supplemental_disease_name DISEASE_NAME:conotruncal_heart_malformations_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome_atrioventricular_septal_defect_5_atrial_septal_defect_9_tetralogy_of_fallot Conotruncal heart malformations;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Atrioventricular septal defect 5;Atrial septal defect 9;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:conotruncal_heart_malformations_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome_tetralogy_of_fallot_atrioventricular_septal_defect_5_atrial_septal_defect_9 Conotruncal heart malformations;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Tetralogy of Fallot;Atrioventricular septal defect 5;Atrial septal defect 9 Supplemental_disease_name DISEASE_NAME:conotruncal_heart_malformations_tetralogy_of_fallot_atrioventricular_septal_defect_5_atrial_septal_defect_9_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome Conotruncal heart malformations;Tetralogy of Fallot;Atrioventricular septal defect 5;Atrial septal defect 9;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Supplemental_disease_name DISEASE_NAME:conotruncal_heart_malformations_tetralogy_of_fallot_velocardiofacial_syndrome_digeorge_syndrome Conotruncal heart malformations;Tetralogy of Fallot;Velocardiofacial syndrome;DiGeorge syndrome Supplemental_disease_name DISEASE_NAME:conotruncal_heart_malformations_velocardiofacial_syndrome_digeorge_syndrome_tetralogy_of_fallot Conotruncal heart malformations;Velocardiofacial syndrome;DiGeorge syndrome;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:conspicuously_happy_disposition Conspicuously happy disposition Supplemental_disease_name DISEASE_NAME:constipation Constipation Supplemental_disease_name DISEASE_NAME:constitutional_indocyanine_green_excretory_defect constitutional indocyanine green excretory defect Supplemental_disease_name DISEASE_NAME:constitutional_megaloblastic_anemia_with_severe_neurologic_disease Constitutional megaloblastic anemia with severe neurologic disease Supplemental_disease_name DISEASE_NAME:continuous_spike_and_waves_during_slow_sleep Continuous spike and waves during slow sleep Supplemental_disease_name DISEASE_NAME:contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a_contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b_arthrogryposis_distal_type_2b3_freeman_sheldon_syndrome Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Contractures, pterygia, and variable skeletal fusions syndrome 1B;Arthrogryposis, distal, type 2B3;Freeman-Sheldon syndrome Supplemental_disease_name DISEASE_NAME:contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a_freeman_sheldon_syndrome_arthrogryposis_distal_type_2b3_contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Freeman-Sheldon syndrome;Arthrogryposis, distal, type 2B3;Contractures, pterygia, and variable skeletal fusions syndrome 1B Supplemental_disease_name DISEASE_NAME:contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a_freeman_sheldon_syndrome_contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b_arthrogryposis_distal_type_2b3 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Freeman-Sheldon syndrome;Contractures, pterygia, and variable skeletal fusions syndrome 1B;Arthrogryposis, distal, type 2B3 Supplemental_disease_name DISEASE_NAME:contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a_spondylocarpotarsal_synostosis_syndrome Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Spondylocarpotarsal synostosis syndrome Supplemental_disease_name DISEASE_NAME:contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b Contractures, pterygia, and variable skeletal fusions syndrome 1B Supplemental_disease_name DISEASE_NAME:contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b_freeman_sheldon_syndrome_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a_arthrogryposis_distal_type_2b3 Contractures, pterygia, and variable skeletal fusions syndrome 1B;Freeman-Sheldon syndrome;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Arthrogryposis, distal, type 2B3 Supplemental_disease_name DISEASE_NAME:convulsions Convulsions Supplemental_disease_name DISEASE_NAME:copa_related_disorder COPA-related disorder Supplemental_disease_name DISEASE_NAME:copb2_related_disorder COPB2-related disorder Supplemental_disease_name DISEASE_NAME:copd_severe_early_onset COPD, severe early onset Supplemental_disease_name DISEASE_NAME:coproporphyria Coproporphyria Supplemental_disease_name DISEASE_NAME:coproporphyria_digenic COPROPORPHYRIA, DIGENIC Supplemental_disease_name DISEASE_NAME:coq2_related_disorder COQ2-related disorder Supplemental_disease_name DISEASE_NAME:coq4_related_disorder COQ4-related disorder Supplemental_disease_name DISEASE_NAME:coq5_related_disorder COQ5-related disorder Supplemental_disease_name DISEASE_NAME:coq6_related_disorder COQ6-related disorder Supplemental_disease_name DISEASE_NAME:coq7_related_disorder COQ7-related disorder Supplemental_disease_name DISEASE_NAME:coq8a_related_disorder COQ8A-related disorder Supplemental_disease_name DISEASE_NAME:coq8b_related_disorder COQ8B-related disorder Supplemental_disease_name DISEASE_NAME:coq9_related_disorder COQ9-related disorder Supplemental_disease_name DISEASE_NAME:coracoclavicular_ankylosis coracoclavicular ankylosis Supplemental_disease_name DISEASE_NAME:corin_related_disorder CORIN-related disorder Supplemental_disease_name DISEASE_NAME:cornea_plana_2 Cornea plana 2 Supplemental_disease_name DISEASE_NAME:corneal_disorder Corneal disorder Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_1 Corneal dystrophy, Fuchs endothelial, 1 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_3 Corneal dystrophy, Fuchs endothelial, 3 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_3_pitt_hopkins_syndrome Corneal dystrophy, Fuchs endothelial, 3;Pitt-Hopkins syndrome Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_4 Corneal dystrophy, Fuchs endothelial, 4 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_4_congenital_hereditary_endothelial_dystrophy_of_cornea_corneal_dystrophy_perceptive_deafness_syndrome Corneal dystrophy, Fuchs endothelial, 4;Congenital hereditary endothelial dystrophy of cornea;Corneal dystrophy-perceptive deafness syndrome Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_4_corneal_dystrophy_perceptive_deafness_syndrome_congenital_hereditary_endothelial_dystrophy_of_cornea Corneal dystrophy, Fuchs endothelial, 4;Corneal dystrophy-perceptive deafness syndrome;Congenital hereditary endothelial dystrophy of cornea Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_6 Corneal dystrophy, Fuchs endothelial, 6 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_8 Corneal dystrophy, Fuchs endothelial, 8 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_lattice_type_3a Corneal dystrophy, lattice type 3A Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_lattice_type_3a_groenouw_corneal_dystrophy_type_i Corneal dystrophy, lattice type 3A;Groenouw corneal dystrophy type I Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_meesmann_1 Corneal dystrophy, Meesmann, 1 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_meesmann_2 Corneal dystrophy, Meesmann, 2 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_perceptive_deafness_syndrome_congenital_hereditary_endothelial_dystrophy_of_cornea Corneal dystrophy-perceptive deafness syndrome;Congenital hereditary endothelial dystrophy of cornea Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_perceptive_deafness_syndrome_congenital_hereditary_endothelial_dystrophy_of_cornea_corneal_dystrophy_fuchs_endothelial_4 Corneal dystrophy-perceptive deafness syndrome;Congenital hereditary endothelial dystrophy of cornea;Corneal dystrophy, Fuchs endothelial, 4 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_perceptive_deafness_syndrome_corneal_dystrophy_fuchs_endothelial_4_congenital_hereditary_endothelial_dystrophy_of_cornea Corneal dystrophy-perceptive deafness syndrome;Corneal dystrophy, Fuchs endothelial, 4;Congenital hereditary endothelial dystrophy of cornea Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_posterior_polymorphous_4 Corneal dystrophy, posterior polymorphous, 4 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_posterior_polymorphous_4_autosomal_dominant_nonsyndromic_hearing_loss_28_nail_and_teeth_abnormalities_marginal_palmoplantar_keratoderma_oral_hyperpigmentation_syndrome Corneal dystrophy, posterior polymorphous, 4;Autosomal dominant nonsyndromic hearing loss 28;Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_punctiform_and_polychromatic_pre_descemet Corneal dystrophy, punctiform and polychromatic pre-descemet Supplemental_disease_name DISEASE_NAME:corneal_intraepithelial_dyskeratosis_palmoplantar_hyperkeratosis_laryngeal_dyskeratosis_syndrome Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Supplemental_disease_name DISEASE_NAME:corneal_intraepithelial_dyskeratosis_palmoplantar_hyperkeratosis_laryngeal_dyskeratosis_syndrome_autoinflammation_with_arthritis_and_dyskeratosis_vitiligo_associated_multiple_autoimmune_disease_susceptibility_1_respiratory_papillomatosis_juvenile_recurrent_congenital Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Autoinflammation with arthritis and dyskeratosis;Vitiligo-associated multiple autoimmune disease susceptibility 1;Respiratory papillomatosis, juvenile recurrent, congenital Supplemental_disease_name DISEASE_NAME:corneal_intraepithelial_dyskeratosis_palmoplantar_hyperkeratosis_laryngeal_dyskeratosis_syndrome_vitiligo_associated_multiple_autoimmune_disease_susceptibility_1_autoinflammation_with_arthritis_and_dyskeratosis_respiratory_papillomatosis_juvenile_recurrent_congenital Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Vitiligo-associated multiple autoimmune disease susceptibility 1;Autoinflammation with arthritis and dyskeratosis;Respiratory papillomatosis, juvenile recurrent, congenital Supplemental_disease_name DISEASE_NAME:corneal_intraepithelial_dyskeratosis_palmoplantar_hyperkeratosis_laryngeal_dyskeratosis_syndrome_vitiligo_associated_multiple_autoimmune_disease_susceptibility_1_respiratory_papillomatosis_juvenile_recurrent_congenital_autoinflammation_with_arthritis_and_dyskeratosis Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Vitiligo-associated multiple autoimmune disease susceptibility 1;Respiratory papillomatosis, juvenile recurrent, congenital;Autoinflammation with arthritis and dyskeratosis Supplemental_disease_name DISEASE_NAME:cornelia_de_lange_like_syndrome Cornelia de Lange-like syndrome Supplemental_disease_name DISEASE_NAME:cornelia_de_lange_syndrome_1_developmental_and_epileptic_encephalopathy_85_with_or_without_midline_brain_defects Cornelia de Lange syndrome 1;Developmental and epileptic encephalopathy, 85, with or without midline brain defects Supplemental_disease_name DISEASE_NAME:cornelia_de_lange_syndrome_3_wiedemann_steiner_syndrome Cornelia de Lange syndrome 3;Wiedemann-Steiner syndrome Supplemental_disease_name DISEASE_NAME:cornelia_de_lange_syndrome_4_mungan_syndrome Cornelia de Lange syndrome 4;Mungan syndrome Supplemental_disease_name DISEASE_NAME:cornelia_de_lange_syndrome_7 CORNELIA DE LANGE SYNDROME 7 Supplemental_disease_name DISEASE_NAME:coro1a_related_disorder CORO1A-related disorder Supplemental_disease_name DISEASE_NAME:coronal_craniosynostosis Coronal craniosynostosis Supplemental_disease_name DISEASE_NAME:coronary_artery_disease_autosomal_dominant_1 Coronary artery disease, autosomal dominant, 1 Supplemental_disease_name DISEASE_NAME:coronary_artery_disease_autosomal_dominant_2 Coronary artery disease, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:coronary_artery_disease_autosomal_dominant_2_tooth_agenesis_selective_7 Coronary artery disease, autosomal dominant 2;Tooth agenesis, selective, 7 Supplemental_disease_name DISEASE_NAME:coronary_artery_disease_myocardial_infarction Coronary artery disease/myocardial infarction Supplemental_disease_name DISEASE_NAME:coronary_artery_disease_severe_susceptibility_to Coronary artery disease, severe, susceptibility to Supplemental_disease_name DISEASE_NAME:coronary_artery_disease_susceptibility_to Coronary artery disease, susceptibility to Supplemental_disease_name DISEASE_NAME:coronary_artery_disorder Coronary artery disorder Supplemental_disease_name DISEASE_NAME:coronary_artery_disorder_diabetes_hypertensive_disorder_hypertriglyceridemia Coronary artery disorder;Diabetes;Hypertensive disorder;Hypertriglyceridemia Supplemental_disease_name DISEASE_NAME:coronary_artery_disorder_hypertensive_disorder_diabetes_hypertriglyceridemia Coronary artery disorder;Hypertensive disorder;Diabetes;Hypertriglyceridemia Supplemental_disease_name DISEASE_NAME:coronary_artery_disorder_hypertriglyceridemia_diabetes_hypertensive_disorder Coronary artery disorder;Hypertriglyceridemia;Diabetes;Hypertensive disorder Supplemental_disease_name DISEASE_NAME:coronary_artery_dissection Coronary artery dissection Supplemental_disease_name DISEASE_NAME:coronary_artery_spasm_1_susceptibility_to CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:coronary_artery_spasm_3_susceptibility_to Coronary artery spasm 3, susceptibility to Supplemental_disease_name DISEASE_NAME:coronary_heart_disease_susceptibility_to_1_susceptibility_to_hiv_infection_age_related_macular_degeneration_12 Coronary heart disease, susceptibility to, 1;Susceptibility to HIV infection;Age related macular degeneration 12 Supplemental_disease_name DISEASE_NAME:coronary_heart_disease_susceptibility_to_2 Coronary heart disease, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:coronary_heart_disease_susceptibility_to_5 Coronary heart disease, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:coronary_heart_disease_susceptibility_to_6 Coronary heart disease, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:coronary_heart_disease_susceptibility_to_7_platelet_type_bleeding_disorder_10_malaria_susceptibility_to Coronary heart disease, susceptibility to, 7;Platelet-type bleeding disorder 10;Malaria, susceptibility to Supplemental_disease_name DISEASE_NAME:coronary_sclerosis_medial_of_infancy Coronary sclerosis, medial, of infancy Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_abnormal_genitalia_syndrome_developmental_and_epileptic_encephalopathy_1_intellectual_disability_x_linked_with_or_without_seizures_arx_related_x_linked_lissencephaly_with_abnormal_genitalia_partington_syndrome Corpus callosum agenesis-abnormal genitalia syndrome;Developmental and epileptic encephalopathy, 1;Intellectual disability, X-linked, with or without seizures, ARX-related;X-linked lissencephaly with abnormal genitalia;Partington syndrome Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_abnormal_genitalia_syndrome_partington_syndrome_developmental_and_epileptic_encephalopathy_1_intellectual_disability_x_linked_with_or_without_seizures_arx_related_x_linked_lissencephaly_with_abnormal_genitalia Corpus callosum agenesis-abnormal genitalia syndrome;Partington syndrome;Developmental and epileptic encephalopathy, 1;Intellectual disability, X-linked, with or without seizures, ARX-related;X-linked lissencephaly with abnormal genitalia Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of_axon_pathfinding_cardiac_ocular_and_genital_defects Corpus callosum, agenesis of;Axon pathfinding, cardiac, ocular and genital defects Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of_brachycephaly_microcephaly_congenital_cerebellar_hypoplasia_mild_fetal_ventriculomegaly Corpus callosum, agenesis of;Brachycephaly;Microcephaly;Congenital cerebellar hypoplasia;Mild fetal ventriculomegaly Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of_diabetes_mellitus Corpus callosum, agenesis of;Diabetes mellitus Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of_ectopic_tissue_focal_onset_seizure_seizure Corpus callosum, agenesis of;Ectopic tissue;Focal-onset seizure;Seizure Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of_hydrocephalus_arthrogryposis_multiplex_congenita_multicystic_kidney_dysplasia Corpus callosum, agenesis of;Hydrocephalus;Arthrogryposis multiplex congenita;Multicystic kidney dysplasia Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of_low_set_ears_abnormal_facial_shape_clinodactyly_of_the_5th_finger_hypertelorism Corpus callosum, agenesis of;Low-set ears;Abnormal facial shape;Clinodactyly of the 5th finger;Hypertelorism Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of_microcephaly_epileptic_encephalopathy Corpus callosum, agenesis of;Microcephaly;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of_primary_amenorrhea_severe_hearing_impairment_retinal_degeneration_hepatic_steatosis Corpus callosum, agenesis of;Primary amenorrhea;Severe hearing impairment;Retinal degeneration;Hepatic steatosis Supplemental_disease_name DISEASE_NAME:cortical_dysplasia Cortical dysplasia Supplemental_disease_name DISEASE_NAME:cortical_dysplasia_complex_with_other_brain_malformations_10 Cortical dysplasia, complex, with other brain malformations 10 Supplemental_disease_name DISEASE_NAME:cortical_dysplasia_complex_with_other_brain_malformations_10_intellectual_developmental_disorder_autosomal_recessive_74 Cortical dysplasia, complex, with other brain malformations 10;Intellectual developmental disorder, autosomal recessive 74 Supplemental_disease_name DISEASE_NAME:cortical_dysplasia_complex_with_other_brain_malformations_11 Cortical dysplasia, complex, with other brain malformations 11 Supplemental_disease_name DISEASE_NAME:cortical_dysplasia_complex_with_other_brain_malformations_12 Cortical dysplasia, complex, with other brain malformations 12 Supplemental_disease_name DISEASE_NAME:cortical_dysplasia_complex_with_other_brain_malformations_9 Cortical dysplasia, complex, with other brain malformations 9 Supplemental_disease_name DISEASE_NAME:cortical_dysplasia_focal_epilepsy_syndrome_autism_susceptibility_to_15 Cortical dysplasia-focal epilepsy syndrome;Autism, susceptibility to, 15 Supplemental_disease_name DISEASE_NAME:cortical_dysplasia_neonatal_death_severe_brain_malformation_abnormal_facial_shape Cortical dysplasia;Neonatal death;Severe brain malformation;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:cortical_tubers Cortical tubers Supplemental_disease_name DISEASE_NAME:cortical_tubers_adenoma_sebaceum Cortical tubers;Adenoma sebaceum Supplemental_disease_name DISEASE_NAME:cortical_tubers_neoplasm Cortical tubers;Neoplasm Supplemental_disease_name DISEASE_NAME:corticobasal_syndrome Corticobasal syndrome Supplemental_disease_name DISEASE_NAME:corticosteroids_response Corticosteroids response Supplemental_disease_name DISEASE_NAME:corticosterone_18_monooxygenase_deficiency Corticosterone 18-monooxygenase deficiency Supplemental_disease_name DISEASE_NAME:corticosterone_18_monooxygenase_deficiency_corticosterone_methyloxidase_type_2_deficiency Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency Supplemental_disease_name DISEASE_NAME:corticosterone_methyl_oxidase_type_ii_deficiency Corticosterone methyl oxidase type II deficiency Supplemental_disease_name DISEASE_NAME:corticosterone_methyloxidase_type_2_deficiency Corticosterone methyloxidase type 2 deficiency Supplemental_disease_name DISEASE_NAME:corticosterone_methyloxidase_type_2_deficiency_corticosterone_18_monooxygenase_deficiency Corticosterone methyloxidase type 2 deficiency;Corticosterone 18-monooxygenase deficiency Supplemental_disease_name DISEASE_NAME:costello_syndrome_linear_nevus_sebaceous_syndrome Costello syndrome;Linear nevus sebaceous syndrome Supplemental_disease_name DISEASE_NAME:costello_syndrome_severe COSTELLO SYNDROME, SEVERE Supplemental_disease_name DISEASE_NAME:cough Cough Supplemental_disease_name DISEASE_NAME:coumarin_resistance Coumarin resistance Supplemental_disease_name DISEASE_NAME:covid_19_associated_multisystem_inflammatory_syndrome_in_adults COVID-19–associated multisystem inflammatory syndrome in adults Supplemental_disease_name DISEASE_NAME:cowden_syndrome_1_familial_meningioma_familial_prostate_cancer_macrocephaly_autism_syndrome_glioma_susceptibility_2 Cowden syndrome 1;Familial meningioma;Familial prostate cancer;Macrocephaly-autism syndrome;Glioma susceptibility 2 Supplemental_disease_name DISEASE_NAME:cowden_syndrome_1_familial_meningioma_glioma_susceptibility_2_familial_prostate_cancer_macrocephaly_autism_syndrome Cowden syndrome 1;Familial meningioma;Glioma susceptibility 2;Familial prostate cancer;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:cowden_syndrome_1_familial_meningioma_glioma_susceptibility_2_macrocephaly_autism_syndrome_prostate_cancer Cowden syndrome 1;Familial meningioma;Glioma susceptibility 2;Macrocephaly-autism syndrome;Prostate cancer Supplemental_disease_name DISEASE_NAME:cowden_syndrome_1_glioma_susceptibility_2_familial_meningioma_familial_prostate_cancer_macrocephaly_autism_syndrome Cowden syndrome 1;Glioma susceptibility 2;Familial meningioma;Familial prostate cancer;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:cowden_syndrome_1_glioma_susceptibility_2_macrocephaly_autism_syndrome_familial_meningioma_prostate_cancer Cowden syndrome 1;Glioma susceptibility 2;Macrocephaly-autism syndrome;Familial meningioma;Prostate cancer Supplemental_disease_name DISEASE_NAME:cowden_syndrome_1_macrocephaly_autism_syndrome Cowden syndrome 1;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:cowden_syndrome_1_macrocephaly_autism_syndrome_familial_meningioma_glioma_susceptibility_2_familial_prostate_cancer Cowden syndrome 1;Macrocephaly-autism syndrome;Familial meningioma;Glioma susceptibility 2;Familial prostate cancer Supplemental_disease_name DISEASE_NAME:cowden_syndrome_1_macrocephaly_autism_syndrome_prostate_cancer_familial_meningioma_glioma_susceptibility_2 Cowden syndrome 1;Macrocephaly-autism syndrome;Prostate cancer;Familial meningioma;Glioma susceptibility 2 Supplemental_disease_name DISEASE_NAME:cowden_syndrome_3 Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:cowden_syndrome_3_carney_stratakis_syndrome_paragangliomas_with_sensorineural_hearing_loss_pheochromocytoma Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:cowden_syndrome_3_carney_stratakis_syndrome_pheochromocytoma_paragangliomas_with_sensorineural_hearing_loss Cowden syndrome 3;Carney-Stratakis syndrome;Pheochromocytoma;Paragangliomas with sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:cowden_syndrome_3_paragangliomas_with_sensorineural_hearing_loss_carney_stratakis_syndrome_pheochromocytoma Cowden syndrome 3;Paragangliomas with sensorineural hearing loss;Carney-Stratakis syndrome;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:cowden_syndrome_3_paragangliomas_with_sensorineural_hearing_loss_pheochromocytoma_carney_stratakis_syndrome Cowden syndrome 3;Paragangliomas with sensorineural hearing loss;Pheochromocytoma;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:cowden_syndrome_3_pheochromocytoma_carney_stratakis_syndrome_paragangliomas_with_sensorineural_hearing_loss Cowden syndrome 3;Pheochromocytoma;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:cowden_syndrome_3_pheochromocytoma_paragangliomas_with_sensorineural_hearing_loss_carney_stratakis_syndrome Cowden syndrome 3;Pheochromocytoma;Paragangliomas with sensorineural hearing loss;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:cowden_syndrome_3_pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_1_carney_stratakis_syndrome Cowden syndrome 3;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 1;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:cowden_syndrome_6_colorectal_cancer_ovarian_cancer_familial_cancer_of_breast_proteus_syndrome Cowden syndrome 6;Colorectal cancer;Ovarian cancer;Familial cancer of breast;Proteus syndrome Supplemental_disease_name DISEASE_NAME:cowden_syndrome_7_congenital_dyserythropoietic_anemia_type_ii Cowden syndrome 7;Congenital dyserythropoietic anemia, type II Supplemental_disease_name DISEASE_NAME:cowden_syndrome_gastrointestinal_stromal_tumor Cowden syndrome;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:cowden_syndrome_macrocephaly_autism_syndrome Cowden syndrome;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:cowden_syndrome_pten_hamartoma_tumor_syndrome_proteus_like_syndrome_macrocephaly_autism_syndrome_bannayan_riley_ruvalcaba_syndrome Cowden syndrome;PTEN hamartoma tumor syndrome;Proteus-like syndrome;Macrocephaly-autism syndrome;Bannayan-Riley-Ruvalcaba syndrome Supplemental_disease_name DISEASE_NAME:cowden_syndrome_segmental_outgrowth_lipomatosis_arteriovenous_malformation_epidermal_nevus_syndrome Cowden syndrome;Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Supplemental_disease_name DISEASE_NAME:cox10_related_disorder COX10-related disorder Supplemental_disease_name DISEASE_NAME:cox15_related_disorder COX15-related disorder Supplemental_disease_name DISEASE_NAME:cox20_related_disorder COX20-related disorder Supplemental_disease_name DISEASE_NAME:cox4i1_related_disorder COX4I1-related disorder Supplemental_disease_name DISEASE_NAME:cox4i2_related_disorder COX4I2-related disorder Supplemental_disease_name DISEASE_NAME:cox5a_related_disorder COX5A-related disorder Supplemental_disease_name DISEASE_NAME:cox6a1_related_disorder COX6A1-related disorder Supplemental_disease_name DISEASE_NAME:cox6a2_related_disorder COX6A2-related disorder Supplemental_disease_name DISEASE_NAME:cox6b1_related_disorder COX6B1-related disorder Supplemental_disease_name DISEASE_NAME:cox7b_related_disorder COX7B-related disorder Supplemental_disease_name DISEASE_NAME:cox8a_related_disorder COX8A-related disorder Supplemental_disease_name DISEASE_NAME:coxopodopatellar_syndrome Coxopodopatellar syndrome Supplemental_disease_name DISEASE_NAME:coxopodopatellar_syndrome_autosomal_recessive_amelia Coxopodopatellar syndrome;Autosomal recessive amelia Supplemental_disease_name DISEASE_NAME:coxopodopatellar_syndrome_primary_pulmonary_hypoplasia Coxopodopatellar syndrome;Primary pulmonary hypoplasia Supplemental_disease_name DISEASE_NAME:coxopodopatellar_syndrome_pulmonary_hypertension_primary_1 Coxopodopatellar syndrome;Pulmonary hypertension, primary, 1 Supplemental_disease_name DISEASE_NAME:cp_related_disorder CP-related disorder Supplemental_disease_name DISEASE_NAME:cpa1_related_disorder CPA1-related disorder Supplemental_disease_name DISEASE_NAME:cpa4_related_disorder CPA4-related disorder Supplemental_disease_name DISEASE_NAME:cpa6_related_disorder CPA6-related disorder Supplemental_disease_name DISEASE_NAME:cpamd8_related_disorder CPAMD8-related disorder Supplemental_disease_name DISEASE_NAME:cpb1_related_disorder CPB1-related disorder Supplemental_disease_name DISEASE_NAME:cpb2_related_disorder CPB2-related disorder Supplemental_disease_name DISEASE_NAME:cpe_related_disorder CPE-related disorder Supplemental_disease_name DISEASE_NAME:cplane1_related_disorder CPLANE1-related disorder Supplemental_disease_name DISEASE_NAME:cplx1_related_disorder CPLX1-related disorder Supplemental_disease_name DISEASE_NAME:cpn1_related_disorder CPN1-related disorder Supplemental_disease_name DISEASE_NAME:cpox_related_disorder CPOX-related disorder Supplemental_disease_name DISEASE_NAME:cpox_related_hereditary_coproporphyria CPOX-related hereditary coproporphyria Supplemental_disease_name DISEASE_NAME:cps1_related_disorder CPS1-related disorder Supplemental_disease_name DISEASE_NAME:cpsf1_related_disorder CPSF1-related disorder Supplemental_disease_name DISEASE_NAME:cpt1a_arctic_variant CPT1A ARCTIC VARIANT Supplemental_disease_name DISEASE_NAME:cpt1a_polymorphism CPT1A POLYMORPHISM Supplemental_disease_name DISEASE_NAME:cpt1a_related_disorder CPT1A-related disorder Supplemental_disease_name DISEASE_NAME:cpt1b_related_disorder CPT1B-related disorder Supplemental_disease_name DISEASE_NAME:cpt1c_related_disorder CPT1C-related disorder Supplemental_disease_name DISEASE_NAME:cpt2_related_disorder CPT2-related disorder Supplemental_disease_name DISEASE_NAME:cpt_resistant_leukemia CPT-resistant leukemia Supplemental_disease_name DISEASE_NAME:cpz_related_disorder CPZ-related disorder Supplemental_disease_name DISEASE_NAME:cr1_related_disorder CR1-related disorder Supplemental_disease_name DISEASE_NAME:cr2_related_disorder CR2-related disorder Supplemental_disease_name DISEASE_NAME:cradd_related_disorder CRADD-related disorder Supplemental_disease_name DISEASE_NAME:cranial_dysinnervation_disorder_congenital_with_absent_corneal_reflex_and_developmental_delay Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay Supplemental_disease_name DISEASE_NAME:craniodiaphyseal_dysplasia_autosomal_dominant Craniodiaphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_2_short_rib_thoracic_dysplasia_7_with_or_without_polydactyly Cranioectodermal dysplasia 2;Short-rib thoracic dysplasia 7 with or without polydactyly Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_3_short_rib_thoracic_dysplasia_18_with_polydactyly Cranioectodermal dysplasia 3;Short-rib thoracic dysplasia 18 with polydactyly Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_3_short_rib_thoracic_dysplasia_18_with_polydactyly_retinitis_pigmentosa_81 Cranioectodermal dysplasia 3;Short-rib thoracic dysplasia 18 with polydactyly;Retinitis pigmentosa 81 Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_4_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_senior_loken_syndrome_8_spermatogenic_failure_72 Cranioectodermal dysplasia 4;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Senior-Loken syndrome 8;Spermatogenic failure 72 Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_4_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_spermatogenic_failure_72_senior_loken_syndrome_8 Cranioectodermal dysplasia 4;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Spermatogenic failure 72;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_4_asphyxiating_thoracic_dystrophy_5_spermatogenic_failure_72_nephronophthisis_13_senior_loken_syndrome_8 Cranioectodermal dysplasia 4;Asphyxiating thoracic dystrophy 5;Spermatogenic failure 72;Nephronophthisis 13;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_4_senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_spermatogenic_failure_72_nephronophthisis_13 Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Spermatogenic failure 72;Nephronophthisis 13 Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_4_spermatogenic_failure_72_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_senior_loken_syndrome_8 Cranioectodermal dysplasia 4;Spermatogenic failure 72;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_5 Cranioectodermal dysplasia 5 Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_6 Cranioectodermal dysplasia 6 Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_saldino_mainzer_syndrome Cranioectodermal dysplasia;Saldino-Mainzer syndrome Supplemental_disease_name DISEASE_NAME:cranioectodermal_dysplasia_short_rib_thoracic_dysplasia_with_or_without_polydactyly Cranioectodermal dysplasia;Short-rib thoracic dysplasia with or without polydactyly Supplemental_disease_name DISEASE_NAME:craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome Craniofacial anomalies and anterior segment dysgenesis syndrome Supplemental_disease_name DISEASE_NAME:craniofacial_deafness_hand_syndrome_waardenburg_syndrome_type_1_waardenburg_syndrome_type_3 Craniofacial-deafness-hand syndrome;Waardenburg syndrome type 1;Waardenburg syndrome type 3 Supplemental_disease_name DISEASE_NAME:craniofacial_deafness_hand_syndrome_waardenburg_syndrome_type_3_alveolar_rhabdomyosarcoma_waardenburg_syndrome_type_1 Craniofacial-deafness-hand syndrome;Waardenburg syndrome type 3;Alveolar rhabdomyosarcoma;Waardenburg syndrome type 1 Supplemental_disease_name DISEASE_NAME:craniofacial_dysmorphism_skeletal_anomalies_and_impaired_intellectual_development_1 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 Supplemental_disease_name DISEASE_NAME:craniofacial_dysplasia_osteopenia_syndrome Craniofacial dysplasia - osteopenia syndrome Supplemental_disease_name DISEASE_NAME:craniofacial_microsomia Craniofacial microsomia Supplemental_disease_name DISEASE_NAME:craniofacial_microsomia_1 Craniofacial microsomia 1 Supplemental_disease_name DISEASE_NAME:craniofacial_microsomia_2 Craniofacial microsomia 2 Supplemental_disease_name DISEASE_NAME:craniofacial_skeletal_dermatologic_dysplasia CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA Supplemental_disease_name DISEASE_NAME:craniofaciocardiohepatic_syndrome Craniofaciocardiohepatic syndrome Supplemental_disease_name DISEASE_NAME:craniometadiaphyseal_osteosclerosis_with_hip_dysplasia Craniometadiaphyseal osteosclerosis with hip dysplasia Supplemental_disease_name DISEASE_NAME:craniometaphyseal_dysplasia_autosomal_dominant Craniometaphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:craniometaphyseal_dysplasia_autosomal_dominant_chondrocalcinosis_2 Craniometaphyseal dysplasia, autosomal dominant;Chondrocalcinosis 2 Supplemental_disease_name DISEASE_NAME:craniometaphyseal_dysplasia_autosomal_recessive Craniometaphyseal dysplasia, autosomal recessive Supplemental_disease_name DISEASE_NAME:cranioosteoarthropathy Cranioosteoarthropathy Supplemental_disease_name DISEASE_NAME:craniosynostosis_5_susceptibility_to Craniosynostosis 5, susceptibility to Supplemental_disease_name DISEASE_NAME:craniosynostosis_7_aortic_valve_disease_2 Craniosynostosis 7;Aortic valve disease 2 Supplemental_disease_name DISEASE_NAME:craniosynostosis_7_aortic_valve_disease_2_radioulnar_synostosis_nonsyndromic_susceptibility_to Craniosynostosis 7;Aortic valve disease 2;Radioulnar synostosis, nonsyndromic, susceptibility to Supplemental_disease_name DISEASE_NAME:craniosynostosis_7_radioulnar_synostosis_nonsyndromic_susceptibility_to_aortic_valve_disease_2 Craniosynostosis 7;Radioulnar synostosis, nonsyndromic, susceptibility to;Aortic valve disease 2 Supplemental_disease_name DISEASE_NAME:craniosynostosis_7_susceptibility_to CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:craniosynostosis_anal_anomalies_porokeratosis_syndrome Craniosynostosis-anal anomalies-porokeratosis syndrome Supplemental_disease_name DISEASE_NAME:craniosynostosis_and_dental_anomalies Craniosynostosis and dental anomalies Supplemental_disease_name DISEASE_NAME:craniosynostosis_nonclassifiable_autosomal_dominant CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT Supplemental_disease_name DISEASE_NAME:craniosynostosis_nonspecific Craniosynostosis, nonspecific Supplemental_disease_name DISEASE_NAME:craniosynostosis_nonsyndromic_unicoronal CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL Supplemental_disease_name DISEASE_NAME:craniosynostosis_syndrome Craniosynostosis syndrome Supplemental_disease_name DISEASE_NAME:craniosynostosis_syndrome_polydactyly Craniosynostosis syndrome;Polydactyly Supplemental_disease_name DISEASE_NAME:craniosynostosis_syndrome_short_stature_microcephaly_cardiomyopathy_neurodevelopmental_delay Craniosynostosis syndrome;Short stature;Microcephaly;Cardiomyopathy;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:craniosynostosis_with_ectopia_lentis Craniosynostosis with ectopia lentis Supplemental_disease_name DISEASE_NAME:crat_related_disorder CRAT-related disorder Supplemental_disease_name DISEASE_NAME:crb1_related_disorder CRB1-related disorder Supplemental_disease_name DISEASE_NAME:crb1_related_maculopathy CRB1-related maculopathy Supplemental_disease_name DISEASE_NAME:crb2_related_disorder CRB2-related disorder Supplemental_disease_name DISEASE_NAME:crbn_related_disorder CRBN-related disorder Supplemental_disease_name DISEASE_NAME:creatine_deficiency_syndrome_1 Creatine deficiency syndrome 1 Supplemental_disease_name DISEASE_NAME:creatine_transporter_deficiency_severe_motor_and_intellectual_disabilities_sensorineural_deafness_dystonia_syndrome Creatine transporter deficiency;Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Supplemental_disease_name DISEASE_NAME:creb3l1_related_disorder CREB3L1-related disorder Supplemental_disease_name DISEASE_NAME:creb3l3_related_disorder CREB3L3-related disorder Supplemental_disease_name DISEASE_NAME:crebbp_related_disorder CREBBP-related disorder Supplemental_disease_name DISEASE_NAME:creg1_related_disorder CREG1-related disorder Supplemental_disease_name DISEASE_NAME:creld1_related_disorder CRELD1-related disorder Supplemental_disease_name DISEASE_NAME:crh_related_disorder CRH-related disorder Supplemental_disease_name DISEASE_NAME:crhr1_related_disorder CRHR1-related disorder Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1 Crigler-Najjar syndrome type 1 Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_bilirubin_serum_level_of_quantitative_trait_locus_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_gilbert_syndrome Crigler-Najjar syndrome type 1;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Gilbert syndrome Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_crigler_najjar_syndrome_type_ii_gilbert_syndrome_bilirubin_serum_level_of_quantitative_trait_locus_1_lucey_driscoll_syndrome Crigler-Najjar syndrome type 1;Crigler-Najjar syndrome, type II;Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_gilbert_syndrome_bilirubin_serum_level_of_quantitative_trait_locus_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii Crigler-Najjar syndrome type 1;Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_gilbert_syndrome_crigler_najjar_syndrome_type_ii_bilirubin_serum_level_of_quantitative_trait_locus_1_lucey_driscoll_syndrome Crigler-Najjar syndrome type 1;Gilbert syndrome;Crigler-Najjar syndrome, type II;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_gilbert_syndrome_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii Crigler-Najjar syndrome type 1;Gilbert syndrome;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_gilbert_syndrome_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_bilirubin_serum_level_of_quantitative_trait_locus_1 Crigler-Najjar syndrome type 1;Gilbert syndrome;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_bilirubin_serum_level_of_quantitative_trait_locus_1_gilbert_syndrome Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Gilbert syndrome Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_gilbert_syndrome Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Gilbert syndrome Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_1_lucey_driscoll_syndrome_gilbert_syndrome_crigler_najjar_syndrome_type_ii_bilirubin_serum_level_of_quantitative_trait_locus_1 Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Gilbert syndrome;Crigler-Najjar syndrome, type II;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_ii Crigler-Najjar syndrome, type II Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_ii_gilbert_syndrome_bilirubin_serum_level_of_quantitative_trait_locus_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_1 Crigler-Najjar syndrome, type II;Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome type 1 Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_ii_lucey_driscoll_syndrome_bilirubin_serum_level_of_quantitative_trait_locus_1_gilbert_syndrome_crigler_najjar_syndrome_type_1 Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Gilbert syndrome;Crigler-Najjar syndrome type 1 Supplemental_disease_name DISEASE_NAME:crigler_najjar_syndrome_type_ii_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_1_gilbert_syndrome_bilirubin_serum_level_of_quantitative_trait_locus_1 Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome;Crigler-Najjar syndrome type 1;Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:crim1_related_disorder CRIM1-related disorder Supplemental_disease_name DISEASE_NAME:cript_related_disorder CRIPT-related disorder Supplemental_disease_name DISEASE_NAME:cripto_related_disorder CRIPTO-related disorder Supplemental_disease_name DISEASE_NAME:crispld2_related_disorder CRISPLD2-related disorder Supplemental_disease_name DISEASE_NAME:crisponi_cold_induced_sweating_syndrome Crisponi/Cold-induced sweating syndrome Supplemental_disease_name DISEASE_NAME:crkl_related_disorder CRKL-related disorder Supplemental_disease_name DISEASE_NAME:crlf1_related_disorder CRLF1-related disorder Supplemental_disease_name DISEASE_NAME:crmp1_related_neurodevelopmental_disorder CRMP1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:crohn_disease_associated_growth_failure_susceptibility_to Crohn disease-associated growth failure, susceptibility to Supplemental_disease_name DISEASE_NAME:crohn_disease_blau_syndrome Crohn disease;Blau syndrome Supplemental_disease_name DISEASE_NAME:cromer_blood_group_system Cromer blood group system Supplemental_disease_name DISEASE_NAME:cromer_blood_group_system_complement_hyperactivation_angiopathic_thrombosis_protein_losing_enteropathy_syndrome Cromer blood group system;Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome Supplemental_disease_name DISEASE_NAME:cromer_blood_group_system_dr_a_phenotype CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE Supplemental_disease_name DISEASE_NAME:crouzon_syndrome_beare_stevenson_cutis_gyrata_syndrome_acrocephalosyndactyly_type_i_pfeiffer_syndrome Crouzon syndrome;Beare-Stevenson cutis gyrata syndrome;Acrocephalosyndactyly type I;Pfeiffer syndrome Supplemental_disease_name DISEASE_NAME:crp_related_disorder CRP-related disorder Supplemental_disease_name DISEASE_NAME:crppa_related_disorder CRPPA-related disorder Supplemental_disease_name DISEASE_NAME:crtap_related_disorder CRTAP-related disorder Supplemental_disease_name DISEASE_NAME:crtc1_related_condition CRTC1-related condition Supplemental_disease_name DISEASE_NAME:crx_related_disorder CRX-related disorder Supplemental_disease_name DISEASE_NAME:cry1_related_disorder CRY1-related disorder Supplemental_disease_name DISEASE_NAME:cryaa2_related_condition CRYAA2-related condition Supplemental_disease_name DISEASE_NAME:cryaa_related_disorder CRYAA-related disorder Supplemental_disease_name DISEASE_NAME:cryab_related_disorder CRYAB-related disorder Supplemental_disease_name DISEASE_NAME:cryba1_related_disorder CRYBA1-related disorder Supplemental_disease_name DISEASE_NAME:cryba2_related_disorder CRYBA2-related disorder Supplemental_disease_name DISEASE_NAME:cryba4_related_disorder CRYBA4-related disorder Supplemental_disease_name DISEASE_NAME:crybb1_related_disorder CRYBB1-related disorder Supplemental_disease_name DISEASE_NAME:crybb2_related_disorder CRYBB2-related disorder Supplemental_disease_name DISEASE_NAME:crybb3_related_disorder CRYBB3-related disorder Supplemental_disease_name DISEASE_NAME:cryga_related_disorder CRYGA-related disorder Supplemental_disease_name DISEASE_NAME:crygb_related_disorder CRYGB-related disorder Supplemental_disease_name DISEASE_NAME:crygc_related_disorder CRYGC-related disorder Supplemental_disease_name DISEASE_NAME:crygd_related_disorder CRYGD-related disorder Supplemental_disease_name DISEASE_NAME:crygs_related_disorder CRYGS-related disorder Supplemental_disease_name DISEASE_NAME:cryl1_related_disorder CRYL1-related disorder Supplemental_disease_name DISEASE_NAME:crym_related_disorder CRYM-related disorder Supplemental_disease_name DISEASE_NAME:cryohydrocytosis Cryohydrocytosis Supplemental_disease_name DISEASE_NAME:cryohydrocytosis_hereditary_spherocytosis_type_4_southeast_asian_ovalocytosis_autosomal_dominant_distal_renal_tubular_acidosis_renal_tubular_acidosis_distal_4_with_hemolytic_anemia Cryohydrocytosis;Hereditary spherocytosis type 4;Southeast Asian ovalocytosis;Autosomal dominant distal renal tubular acidosis;Renal tubular acidosis, distal, 4, with hemolytic anemia Supplemental_disease_name DISEASE_NAME:cryopyrin_associated_periodic_syndrome Cryopyrin associated periodic syndrome Supplemental_disease_name DISEASE_NAME:cryptophthalmos_syndrome Cryptophthalmos syndrome Supplemental_disease_name DISEASE_NAME:cryptorchidism_coarctation_of_aorta Cryptorchidism;Coarctation of aorta Supplemental_disease_name DISEASE_NAME:cryptorchidism_corpus_callosum_agenesis_of_lissencephaly Cryptorchidism;Corpus callosum, agenesis of;Lissencephaly Supplemental_disease_name DISEASE_NAME:cryptorchidism_microphallus_short_nose Cryptorchidism;Microphallus;Short nose Supplemental_disease_name DISEASE_NAME:cryptorchidism_neurodevelopmental_delay Cryptorchidism;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:cryptosporidiosis_chronic_cholangitis_liver_disease_syndrome Cryptosporidiosis-chronic cholangitis-liver disease syndrome Supplemental_disease_name DISEASE_NAME:cryptosporidiosis_chronic_cholangitis_liver_disease_syndrome_ige_responsiveness_atopic Cryptosporidiosis-chronic cholangitis-liver disease syndrome;IgE responsiveness, atopic Supplemental_disease_name DISEASE_NAME:cryptozoospermia Cryptozoospermia Supplemental_disease_name DISEASE_NAME:cryz_related_disorder CRYZ-related disorder Supplemental_disease_name DISEASE_NAME:csde1_associated_disorder CSDE1-associated disorder Supplemental_disease_name DISEASE_NAME:csde1_associated_neurodevelopmental_disorder CSDE1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:csde1_related_disorder CSDE1-related disorder Supplemental_disease_name DISEASE_NAME:csde1_related_neurodevelopmental_disorder CSDE1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:csf1r_related_adult_onset_leukoencephalopathy CSF1R-Related Adult-Onset Leukoencephalopathy Supplemental_disease_name DISEASE_NAME:csf1r_related_disorder CSF1R-related disorder Supplemental_disease_name DISEASE_NAME:csf1r_related_leukoencephalopathy CSF1R-related leukoencephalopathy Supplemental_disease_name DISEASE_NAME:csf2ra_related_disorder CSF2RA-related disorder Supplemental_disease_name DISEASE_NAME:csf2rb_related_disorder CSF2RB-related disorder Supplemental_disease_name DISEASE_NAME:csf3r_related_disorder CSF3R-related disorder Supplemental_disease_name DISEASE_NAME:csf3r_related_disorders CSF3R-Related Disorders Supplemental_disease_name DISEASE_NAME:csgalnact1_related_disorder CSGALNACT1-related disorder Supplemental_disease_name DISEASE_NAME:csmd1_associated_neurodevelopmental_disorder CSMD1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:csmd1_related_disorder CSMD1-related disorder Supplemental_disease_name DISEASE_NAME:csmd3_associated_hirschsprung_disease CSMD3-associated Hirschsprung disease Supplemental_disease_name DISEASE_NAME:csmd3_related_disorder CSMD3-related disorder Supplemental_disease_name DISEASE_NAME:csnk1d_related_disorder CSNK1D-related disorder Supplemental_disease_name DISEASE_NAME:csnk1g1_related_developmental_disorder_with_autism_spectrum_disorder CSNK1G1-related developmental disorder with autism spectrum disorder Supplemental_disease_name DISEASE_NAME:csnk1g3_related_disorder CSNK1G3-related disorder Supplemental_disease_name DISEASE_NAME:csnk2a1_related_disorder CSNK2A1-related disorder Supplemental_disease_name DISEASE_NAME:csnk2a1_related_neurodevelopmental_syndrome CSNK2A1-related neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:csnk2a2_related_disorder CSNK2A2-related disorder Supplemental_disease_name DISEASE_NAME:csnk2b_related_disorder CSNK2B-related disorder Supplemental_disease_name DISEASE_NAME:csnk2b_related_intellectual_disability_with_or_without_epilepsy CSNK2B-related intellectual disability with or without epilepsy Supplemental_disease_name DISEASE_NAME:csnk2b_related_neurodevelopmental_disorder CSNK2B-Related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:cspp1_related_disorder CSPP1-related disorder Supplemental_disease_name DISEASE_NAME:csrp3_related_disorder CSRP3-related disorder Supplemental_disease_name DISEASE_NAME:css12_schizoaffective_disorder_bipolar_type_adult_onset_psychiatric_condition CSS12 + schizoaffective disorder, bipolar type/adult-onset psychiatric condition Supplemental_disease_name DISEASE_NAME:cst3_related_leukodystrophy CST3-related Leukodystrophy Supplemental_disease_name DISEASE_NAME:cst6_related_disorder CST6-related disorder Supplemental_disease_name DISEASE_NAME:csta_related_disorder CSTA-related disorder Supplemental_disease_name DISEASE_NAME:cstb_related_disorder CSTB-related disorder Supplemental_disease_name DISEASE_NAME:ctbp1_related_disorder CTBP1-related disorder Supplemental_disease_name DISEASE_NAME:ctbp2_related_disorder CTBP2-related disorder Supplemental_disease_name DISEASE_NAME:ctc1_related_disorder CTC1-related disorder Supplemental_disease_name DISEASE_NAME:ctcf_related_disorder CTCF-related disorder Supplemental_disease_name DISEASE_NAME:ctcf_related_neurodevelopmental_disorder CTCF-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ctcf_related_syndromic_intellectual_disability CTCF-related syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:ctdp1_related_disorder CTDP1-related disorder Supplemental_disease_name DISEASE_NAME:ctdsp2_related_disorder CTDSP2-related disorder Supplemental_disease_name DISEASE_NAME:ctf1_related_disorder CTF1-related disorder Supplemental_disease_name DISEASE_NAME:cth_related_disorder CTH-related disorder Supplemental_disease_name DISEASE_NAME:ctla4_haploinsufficiency CTLA4 Haploinsufficiency Supplemental_disease_name DISEASE_NAME:ctla4_related_disorder CTLA4-related disorder Supplemental_disease_name DISEASE_NAME:ctnna1_associated_fevr CTNNA1-associated FEVR Supplemental_disease_name DISEASE_NAME:ctnna1_related_diffuse_gastric_and_lobular_breast_cancer_syndrome CTNNA1-related diffuse gastric and lobular breast cancer syndrome Supplemental_disease_name DISEASE_NAME:ctnna1_related_disorder CTNNA1-related disorder Supplemental_disease_name DISEASE_NAME:ctnna2_related_disorder CTNNA2-related disorder Supplemental_disease_name DISEASE_NAME:ctnna3_related_disorder CTNNA3-related disorder Supplemental_disease_name DISEASE_NAME:ctnnb1_related_disorder CTNNB1-related disorder Supplemental_disease_name DISEASE_NAME:ctnnb1_related_syndromic_intellectual_disability CTNNB1-related syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:ctnnd1_related_disorder CTNND1-related disorder Supplemental_disease_name DISEASE_NAME:ctnnd2_associated_neurodevelopmental_disorder CTNND2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ctnnd2_associated_neurodevelopmental_syndrome CTNND2-associated Neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:ctnnd2_related_disorder CTNND2-related disorder Supplemental_disease_name DISEASE_NAME:ctns_related_disorder CTNS-related disorder Supplemental_disease_name DISEASE_NAME:ctps1_related_disorder CTPS1-related disorder Supplemental_disease_name DISEASE_NAME:ctr9_related_disorder CTR9-related disorder Supplemental_disease_name DISEASE_NAME:ctr9_related_motor_delay_and_macrocephaly CTR9-related motor delay and macrocephaly Supplemental_disease_name DISEASE_NAME:ctr9_related_neurodevelopmental_disorder CTR9-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ctrc_related_disorder CTRC-related disorder Supplemental_disease_name DISEASE_NAME:ctsa_related_disorder CTSA-related disorder Supplemental_disease_name DISEASE_NAME:ctsb_related_disorder CTSB-related disorder Supplemental_disease_name DISEASE_NAME:ctsc_related_disorder CTSC-related disorder Supplemental_disease_name DISEASE_NAME:ctsd_related_disorder CTSD-related disorder Supplemental_disease_name DISEASE_NAME:ctsf_related_disorder CTSF-related disorder Supplemental_disease_name DISEASE_NAME:ctsh_related_disorder CTSH-related disorder Supplemental_disease_name DISEASE_NAME:ctsk_related_disorder CTSK-related disorder Supplemental_disease_name DISEASE_NAME:cttnbp2_related_disorder CTTNBP2-related disorder Supplemental_disease_name DISEASE_NAME:ctu2_related_disorder CTU2-related disorder Supplemental_disease_name DISEASE_NAME:cubn_related_disorder CUBN-related disorder Supplemental_disease_name DISEASE_NAME:cul3_related_disorder CUL3-related disorder Supplemental_disease_name DISEASE_NAME:cul4b_related_disorder CUL4B-related disorder Supplemental_disease_name DISEASE_NAME:cul4b_related_x_linked_intellectual_disability CUL4B-related X-linked intellectual disability Supplemental_disease_name DISEASE_NAME:cul7_related_disorder CUL7-related disorder Supplemental_disease_name DISEASE_NAME:cul9_related_disorder CUL9-related disorder Supplemental_disease_name DISEASE_NAME:cup_carcinoma_unknown_primary_syndrome CUP (carcinoma unknown primary) syndrome Supplemental_disease_name DISEASE_NAME:curly_hair_ankyloblepharon_nail_dysplasia_syndrome Curly hair, ankyloblepharon, nail dysplasia syndrome Supplemental_disease_name DISEASE_NAME:curry_hall_syndrome_ellis_van_creveld_syndrome Curry-Hall syndrome;Ellis-van Creveld syndrome Supplemental_disease_name DISEASE_NAME:curry_jones_syndrome Curry-Jones syndrome Supplemental_disease_name DISEASE_NAME:cutaneous_finger_syndactyly_intellectual_disability_anteverted_nares_bilateral_microphthalmos Cutaneous finger syndactyly;Intellectual disability;Anteverted nares;Bilateral microphthalmos Supplemental_disease_name DISEASE_NAME:cutaneous_leiomyoma_uterine_leiomyoma Cutaneous leiomyoma;Uterine leiomyoma Supplemental_disease_name DISEASE_NAME:cutaneous_mastocytosis_acute_myeloid_leukemia_germ_cell_tumor_of_testis_piebaldism_gastrointestinal_stromal_tumor Cutaneous mastocytosis;Acute myeloid leukemia;Germ cell tumor of testis;Piebaldism;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:cutaneous_mastocytosis_gastrointestinal_stromal_tumor_piebaldism_acute_myeloid_leukemia_germ_cell_tumor_of_testis Cutaneous mastocytosis;Gastrointestinal stromal tumor;Piebaldism;Acute myeloid leukemia;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:cutaneous_metastatic_melanoma Cutaneous metastatic melanoma Supplemental_disease_name DISEASE_NAME:cutaneous_skeletal_hypophosphatemia_syndrome cutaneous-skeletal hypophosphatemia syndrome Supplemental_disease_name DISEASE_NAME:cutaneous_venous_malformation Cutaneous venous malformation Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant Cutis laxa, autosomal dominant Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_1 Cutis laxa, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_1_supravalvar_aortic_stenosis Cutis laxa, autosomal dominant 1;Supravalvar aortic stenosis Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_1_supravalvar_aortic_stenosis_williams_syndrome Cutis laxa, autosomal dominant 1;Supravalvar aortic stenosis;Williams syndrome Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_1_williams_syndrome_supravalvar_aortic_stenosis Cutis laxa, autosomal dominant 1;Williams syndrome;Supravalvar aortic stenosis Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_2 Cutis laxa, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_2_charcot_marie_tooth_disease_demyelinating_iia_1h_cutis_laxa_autosomal_recessive_type_1a_macular_degeneration_age_related_3 Cutis laxa, autosomal dominant 2;Charcot-Marie-Tooth disease, demyelinating, IIA 1H;Cutis laxa, autosomal recessive, type 1A;Macular degeneration, age-related, 3 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_3 Cutis laxa, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_3_aldh18a1_related_de_barsy_syndrome_hereditary_spastic_paraplegia_9a Cutis laxa, autosomal dominant 3;ALDH18A1-related de Barsy syndrome;Hereditary spastic paraplegia 9A Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_3_autosomal_dominant_spastic_paraplegia_type_9_de_barsy_syndrome Cutis laxa, autosomal dominant 3;Autosomal dominant spastic paraplegia type 9;de Barsy syndrome Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_3_autosomal_recessive_complex_spastic_paraplegia_type_9b_aldh18a1_related_de_barsy_syndrome_hereditary_spastic_paraplegia_9a Cutis laxa, autosomal dominant 3;Autosomal recessive complex spastic paraplegia type 9B;ALDH18A1-related de Barsy syndrome;Hereditary spastic paraplegia 9A Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_3_autosomal_recessive_complex_spastic_paraplegia_type_9b_hereditary_spastic_paraplegia_9a_aldh18a1_related_de_barsy_syndrome Cutis laxa, autosomal dominant 3;Autosomal recessive complex spastic paraplegia type 9B;Hereditary spastic paraplegia 9A;ALDH18A1-related de Barsy syndrome Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_3_de_barsy_syndrome_autosomal_dominant_spastic_paraplegia_type_9 Cutis laxa, autosomal dominant 3;de Barsy syndrome;Autosomal dominant spastic paraplegia type 9 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_3_hereditary_spastic_paraplegia_9a_aldh18a1_related_de_barsy_syndrome_autosomal_recessive_complex_spastic_paraplegia_type_9b Cutis laxa, autosomal dominant 3;Hereditary spastic paraplegia 9A;ALDH18A1-related de Barsy syndrome;Autosomal recessive complex spastic paraplegia type 9B Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_recessive_type_1a Cutis laxa, autosomal recessive, type 1A Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_recessive_type_1a_charcot_marie_tooth_disease_demyelinating_iia_1h_cutis_laxa_autosomal_dominant_2_macular_degeneration_age_related_3 Cutis laxa, autosomal recessive, type 1A;Charcot-Marie-Tooth disease, demyelinating, IIA 1H;Cutis laxa, autosomal dominant 2;Macular degeneration, age-related, 3 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_recessive_type_1a_cutis_laxa_autosomal_dominant_2 Cutis laxa, autosomal recessive, type 1A;Cutis laxa, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_recessive_type_1a_cutis_laxa_autosomal_dominant_2_charcot_marie_tooth_disease_demyelinating_iia_1h_macular_degeneration_age_related_3 Cutis laxa, autosomal recessive, type 1A;Cutis laxa, autosomal dominant 2;Charcot-Marie-Tooth disease, demyelinating, IIA 1H;Macular degeneration, age-related, 3 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_recessive_type_1a_cutis_laxa_autosomal_dominant_2_macular_degeneration_age_related_3_charcot_marie_tooth_disease_demyelinating_iia_1h Cutis laxa, autosomal recessive, type 1A;Cutis laxa, autosomal dominant 2;Macular degeneration, age-related, 3;Charcot-Marie-Tooth disease, demyelinating, IIA 1H Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_recessive_type_1a_macular_degeneration_age_related_3_cutis_laxa_autosomal_dominant_2 Cutis laxa, autosomal recessive, type 1A;Macular degeneration, age-related, 3;Cutis laxa, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_recessive_type_1b Cutis laxa, autosomal recessive, type 1B Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_recessive_type_1d Cutis laxa, autosomal recessive, type 1d Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_recessive_type_2e Cutis laxa, autosomal recessive, type 2E Supplemental_disease_name DISEASE_NAME:cutis_laxa_generalized_arterial_tortuosity Cutis laxa;Generalized arterial tortuosity Supplemental_disease_name DISEASE_NAME:cutis_laxa_papule Cutis laxa;Papule Supplemental_disease_name DISEASE_NAME:cutis_laxa_syndrome Cutis Laxa Syndrome Supplemental_disease_name DISEASE_NAME:cutis_laxa_with_osteodystrophy Cutis laxa with osteodystrophy Supplemental_disease_name DISEASE_NAME:cutis_laxa_with_osteodystrophy_wrinkly_skin_syndrome Cutis laxa with osteodystrophy;Wrinkly skin syndrome Supplemental_disease_name DISEASE_NAME:cutis_laxa_with_severe_pulmonary_gastrointestinal_and_urinary_anomalies Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Supplemental_disease_name DISEASE_NAME:cutis_laxa_x_linked Cutis laxa, X-linked Supplemental_disease_name DISEASE_NAME:cutis_laxa_x_linked_menkes_kinky_hair_syndrome Cutis laxa, X-linked;Menkes kinky-hair syndrome Supplemental_disease_name DISEASE_NAME:cutis_laxa_x_linked_menkes_kinky_hair_syndrome_x_linked_distal_spinal_muscular_atrophy_type_3 Cutis laxa, X-linked;Menkes kinky-hair syndrome;X-linked distal spinal muscular atrophy type 3 Supplemental_disease_name DISEASE_NAME:cutis_laxa_x_linked_x_linked_distal_spinal_muscular_atrophy_type_3 Cutis laxa, X-linked;X-linked distal spinal muscular atrophy type 3 Supplemental_disease_name DISEASE_NAME:cutis_laxa_x_linked_x_linked_distal_spinal_muscular_atrophy_type_3_menkes_kinky_hair_syndrome Cutis laxa, X-linked;X-linked distal spinal muscular atrophy type 3;Menkes kinky-hair syndrome Supplemental_disease_name DISEASE_NAME:cux1_related_disorder CUX1-related disorder Supplemental_disease_name DISEASE_NAME:cux2_related_disorder CUX2-related disorder Supplemental_disease_name DISEASE_NAME:cwc27_related_disorder CWC27-related disorder Supplemental_disease_name DISEASE_NAME:cwf19l1_related_disorder CWF19L1-related disorder Supplemental_disease_name DISEASE_NAME:cx3cr1_related_disorder CX3CR1-related disorder Supplemental_disease_name DISEASE_NAME:cxcl12_related_disorder CXCL12-related disorder Supplemental_disease_name DISEASE_NAME:cxcl8_related_disorder CXCL8-related disorder Supplemental_disease_name DISEASE_NAME:cxcr1_related_disorder CXCR1-related disorder Supplemental_disease_name DISEASE_NAME:cxcr2_related_disorder CXCR2-related disorder Supplemental_disease_name DISEASE_NAME:cxcr4_related_disorder CXCR4-related disorder Supplemental_disease_name DISEASE_NAME:cyanosis_transient_neonatal Cyanosis transient neonatal Supplemental_disease_name DISEASE_NAME:cyb561_related_disorder CYB561-related disorder Supplemental_disease_name DISEASE_NAME:cyb5a_related_disorder CYB5A-related disorder Supplemental_disease_name DISEASE_NAME:cyb5r3_polymorphism CYB5R3 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:cyb5r3_related_disorder CYB5R3-related disorder Supplemental_disease_name DISEASE_NAME:cyba_polymorphism CYBA POLYMORPHISM Supplemental_disease_name DISEASE_NAME:cyba_related_disorder CYBA-related disorder Supplemental_disease_name DISEASE_NAME:cybb_related_disorder CYBB-related disorder Supplemental_disease_name DISEASE_NAME:cybrd1_related_disorder CYBRD1-related disorder Supplemental_disease_name DISEASE_NAME:cyc1_related_disorder CYC1-related disorder Supplemental_disease_name DISEASE_NAME:cyclical_neutropenia_neutropenia_severe_congenital_1_autosomal_dominant Cyclical neutropenia;Neutropenia, severe congenital, 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:cyclical_vomiting_syndrome Cyclical vomiting syndrome Supplemental_disease_name DISEASE_NAME:cycs_related_disorder CYCS-related disorder Supplemental_disease_name DISEASE_NAME:cyfip1_related_disorder CYFIP1-related disorder Supplemental_disease_name DISEASE_NAME:cyfip2_related_disorder CYFIP2-related disorder Supplemental_disease_name DISEASE_NAME:cyfip2_related_neurodevelopmental_disorders CYFIP2-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:cyld_related_disorder CYLD-related disorder Supplemental_disease_name DISEASE_NAME:cyp11a1_related_disorder CYP11A1-related disorder Supplemental_disease_name DISEASE_NAME:cyp11b1_related_disorder CYP11B1-related disorder Supplemental_disease_name DISEASE_NAME:cyp11b2_related_disorder CYP11B2-related disorder Supplemental_disease_name DISEASE_NAME:cyp17a1_related_disorder CYP17A1-related disorder Supplemental_disease_name DISEASE_NAME:cyp19a1_related_disorder CYP19A1-related disorder Supplemental_disease_name DISEASE_NAME:cyp1a1_related_disorder CYP1A1-related disorder Supplemental_disease_name DISEASE_NAME:cyp1b1_related_disorder CYP1B1-related disorder Supplemental_disease_name DISEASE_NAME:cyp1b1_related_glaucoma_with_or_without_anterior_segment_dysgenesis CYP1B1-related glaucoma with or without anterior segment dysgenesis Supplemental_disease_name DISEASE_NAME:cyp21a2_related_disorder CYP21A2-related disorder Supplemental_disease_name DISEASE_NAME:cyp24a1_related_disorder CYP24A1-related disorder Supplemental_disease_name DISEASE_NAME:cyp26a1_related_condition CYP26A1-related condition Supplemental_disease_name DISEASE_NAME:cyp26b1_related_disorder CYP26B1-related disorder Supplemental_disease_name DISEASE_NAME:cyp26c1_related_disorder CYP26C1-related disorder Supplemental_disease_name DISEASE_NAME:cyp27a1_related_disorder CYP27A1-related disorder Supplemental_disease_name DISEASE_NAME:cyp27b1_related_disorder CYP27B1-related disorder Supplemental_disease_name DISEASE_NAME:cyp2a6_12a CYP2A6*12A Supplemental_disease_name DISEASE_NAME:cyp2a6_3 CYP2A6*3 Supplemental_disease_name DISEASE_NAME:cyp2a6_4a CYP2A6*4A Supplemental_disease_name DISEASE_NAME:cyp2b6_related_disorder CYP2B6-related disorder Supplemental_disease_name DISEASE_NAME:cyp2c19_decreased_function CYP2C19: decreased function Supplemental_disease_name DISEASE_NAME:cyp2c19_increased_function CYP2C19: increased function Supplemental_disease_name DISEASE_NAME:cyp2c19_no_function CYP2C19: no function Supplemental_disease_name DISEASE_NAME:cyp2c19_normal_function CYP2C19: normal function Supplemental_disease_name DISEASE_NAME:cyp2c19_uncertain_function CYP2C19: uncertain function Supplemental_disease_name DISEASE_NAME:cyp2c8_polymorphism CYP2C8 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:cyp2c8_related_disorder CYP2C8-related disorder Supplemental_disease_name DISEASE_NAME:cyp2d6_related_condition CYP2D6-related condition Supplemental_disease_name DISEASE_NAME:cyp2e1_6_allele CYP2E1*6 ALLELE Supplemental_disease_name DISEASE_NAME:cyp2r1_related_disorder CYP2R1-related disorder Supplemental_disease_name DISEASE_NAME:cyp2u1_related_disorder CYP2U1-related disorder Supplemental_disease_name DISEASE_NAME:cyp3a4_promoter_polymorphism CYP3A4 PROMOTER POLYMORPHISM Supplemental_disease_name DISEASE_NAME:cyp3a4_related_disorder CYP3A4-related disorder Supplemental_disease_name DISEASE_NAME:cyp3a5_related_disorder CYP3A5-related disorder Supplemental_disease_name DISEASE_NAME:cyp4f22_related_disorder CYP4F22-related disorder Supplemental_disease_name DISEASE_NAME:cyp4f2_related_disorder CYP4F2-related disorder Supplemental_disease_name DISEASE_NAME:cyp4v2_related_disorder CYP4V2-related disorder Supplemental_disease_name DISEASE_NAME:cyp51a1_related_disorder CYP51A1-related disorder Supplemental_disease_name DISEASE_NAME:cyp7a1_related_disorder CYP7A1-related disorder Supplemental_disease_name DISEASE_NAME:cyp7b1_related_disorder CYP7B1-related disorder Supplemental_disease_name DISEASE_NAME:cys1_related_condition CYS1-related condition Supplemental_disease_name DISEASE_NAME:cystic_disease_of_lung Cystic disease of lung Supplemental_disease_name DISEASE_NAME:cystic_epithelial_invagination_containing_papillae_lined_by_columnar_epithelium Cystic epithelial invagination containing papillae lined by columnar epithelium Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_bronchiectasis_with_or_without_elevated_sweat_chloride_1_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_bronchiectasis_with_or_without_elevated_sweat_chloride_1_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_hereditary_pancreatitis Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_bronchiectasis_with_or_without_elevated_sweat_chloride_1_hereditary_pancreatitis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_cftr_related_disorder Cystic fibrosis;CFTR-related disorder Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_bronchiectasis_with_or_without_elevated_sweat_chloride_1_hereditary_pancreatitis Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_hereditary_pancreatitis Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_hereditary_pancreatitis_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_diagnostic_test Cystic fibrosis diagnostic test Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_gastritis_megaloblastic_anemia_syndrome Cystic fibrosis-gastritis-megaloblastic anemia syndrome Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_hereditary_pancreatitis Cystic fibrosis;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_hereditary_pancreatitis_bronchiectasis_with_or_without_elevated_sweat_chloride_1_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Cystic fibrosis;Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:cystic_fibrosis_hereditary_pancreatitis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Cystic fibrosis;Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:cystic_hygroma_vsd CYSTIC HYGROMA, VSD Supplemental_disease_name DISEASE_NAME:cystic_leukoencephalopathy Cystic Leukoencephalopathy Supplemental_disease_name DISEASE_NAME:cystic_parathyroid_adenoma Cystic parathyroid adenoma Supplemental_disease_name DISEASE_NAME:cystic_renal_disease Cystic renal disease Supplemental_disease_name DISEASE_NAME:cystic_renal_dysplasia_chronic_kidney_disease Cystic renal dysplasia;Chronic kidney disease Supplemental_disease_name DISEASE_NAME:cystic_renal_dysplasia_multicystic_kidney_dysplasia_polycystic_liver_disease_1_polycystic_kidney_disease Cystic renal dysplasia;Multicystic kidney dysplasia;Polycystic liver disease 1;Polycystic kidney disease Supplemental_disease_name DISEASE_NAME:cystine_urolithiasis Cystine urolithiasis Supplemental_disease_name DISEASE_NAME:cystinosis_atypical_nephropathic Cystinosis, atypical nephropathic Supplemental_disease_name DISEASE_NAME:cytidine_5_prime_triphosphate_synthetase_2_deficiency CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2 deficiency Supplemental_disease_name DISEASE_NAME:cytochrome_c_oxidase_i_deficiency Cytochrome c oxidase I deficiency Supplemental_disease_name DISEASE_NAME:cytosolic_phospholipase_a2_alpha_deficiency_associated_bleeding_disorder Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Supplemental_disease_name DISEASE_NAME:d2hgdh_related_disorder D2HGDH-related disorder Supplemental_disease_name DISEASE_NAME:d_6618 D-6618 Supplemental_disease_name DISEASE_NAME:daam1_related_disorder DAAM1-related disorder Supplemental_disease_name DISEASE_NAME:daam2_related_disorder DAAM2-related disorder Supplemental_disease_name DISEASE_NAME:dab1_related_disorder DAB1-related disorder Supplemental_disease_name DISEASE_NAME:dabrafenib_response Dabrafenib response Supplemental_disease_name DISEASE_NAME:dact1_related_disorder DACT1-related disorder Supplemental_disease_name DISEASE_NAME:dact1_related_neural_tube_defects DACT1-related neural tube defects Supplemental_disease_name DISEASE_NAME:dag1_related_disorder DAG1-related disorder Supplemental_disease_name DISEASE_NAME:dagla_related_disorder DAGLA-related disorder Supplemental_disease_name DISEASE_NAME:dalmatian_hypouricemia Dalmatian hypouricemia Supplemental_disease_name DISEASE_NAME:dalrd3_related_disorder DALRD3-related disorder Supplemental_disease_name DISEASE_NAME:dandy_walker_malformation Dandy-Walker malformation Supplemental_disease_name DISEASE_NAME:dandy_walker_syndrome_cerebellar_vermis_hypoplasia_hydrocephalus_global_developmental_delay Dandy-Walker syndrome;Cerebellar vermis hypoplasia;Hydrocephalus;Global developmental delay Supplemental_disease_name DISEASE_NAME:danon_disease_cardiomyopathy Danon disease;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:danon_disease_hypertrophic_cardiomyopathy Danon disease;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:dao_related_disorder DAO-related disorder Supplemental_disease_name DISEASE_NAME:dap3_related_disorder DAP3-related disorder Supplemental_disease_name DISEASE_NAME:dapp1_related_condition DAPP1-related condition Supplemental_disease_name DISEASE_NAME:darier_disease Darier disease Supplemental_disease_name DISEASE_NAME:darier_disease_acral_hemorrhagic_type Darier disease, acral hemorrhagic type Supplemental_disease_name DISEASE_NAME:darier_disease_segmental Darier disease, segmental Supplemental_disease_name DISEASE_NAME:dars1_related_disorder DARS1-related disorder Supplemental_disease_name DISEASE_NAME:dars2_related_disorder DARS2-related disorder Supplemental_disease_name DISEASE_NAME:daw1_related_disorder DAW1-related disorder Supplemental_disease_name DISEASE_NAME:dazl_related_disorder DAZL-related disorder Supplemental_disease_name DISEASE_NAME:dbh_related_disorder DBH-related disorder Supplemental_disease_name DISEASE_NAME:dbr1_related_disorder DBR1-related disorder Supplemental_disease_name DISEASE_NAME:dbt_related_disorder DBT-related disorder Supplemental_disease_name DISEASE_NAME:dcaf17_related_disorder DCAF17-related disorder Supplemental_disease_name DISEASE_NAME:dcaf4l2_related_disorder DCAF4L2-related disorder Supplemental_disease_name DISEASE_NAME:dcaf6_related_condition DCAF6-related condition Supplemental_disease_name DISEASE_NAME:dcaf8_related_disorder DCAF8-related disorder Supplemental_disease_name DISEASE_NAME:dcbld2_related_disorder DCBLD2-related disorder Supplemental_disease_name DISEASE_NAME:dcc_related_disorder DCC-related disorder Supplemental_disease_name DISEASE_NAME:dcdc1_related_disorder DCDC1-related disorder Supplemental_disease_name DISEASE_NAME:dcdc2_related_disorder DCDC2-related disorder Supplemental_disease_name DISEASE_NAME:dcdc5_related_condition DCDC5-related condition Supplemental_disease_name DISEASE_NAME:dchs1_related_congenital_anomalies_of_the_kidney_and_urinary_tract DCHS1-related congenital anomalies of the kidney and urinary tract Supplemental_disease_name DISEASE_NAME:dchs1_related_disorder DCHS1-related disorder Supplemental_disease_name DISEASE_NAME:dchs1_related_disorders DCHS1-Related Disorders Supplemental_disease_name DISEASE_NAME:dchs2_related_disorder DCHS2-related disorder Supplemental_disease_name DISEASE_NAME:dclre1b_related_disorder DCLRE1B-related disorder Supplemental_disease_name DISEASE_NAME:dclre1c_related_disorder DCLRE1C-related disorder Supplemental_disease_name DISEASE_NAME:dcn_related_disorder DCN-related disorder Supplemental_disease_name DISEASE_NAME:dcps_related_disorder DCPS-related disorder Supplemental_disease_name DISEASE_NAME:dct_related_disorder DCT-related disorder Supplemental_disease_name DISEASE_NAME:dctn1_related_disorder DCTN1-related disorder Supplemental_disease_name DISEASE_NAME:dcx_related_disorder DCX-related disorder Supplemental_disease_name DISEASE_NAME:dcxr_related_disorder DCXR-related disorder Supplemental_disease_name DISEASE_NAME:ddb1_related_disorder DDB1-related disorder Supplemental_disease_name DISEASE_NAME:ddb2_related_disorder DDB2-related disorder Supplemental_disease_name DISEASE_NAME:ddc_related_disorder DDC-related disorder Supplemental_disease_name DISEASE_NAME:ddhd1_related_disorder DDHD1-related disorder Supplemental_disease_name DISEASE_NAME:ddhd2_related_disorder DDHD2-related disorder Supplemental_disease_name DISEASE_NAME:ddost_related_disorder DDOST-related disorder Supplemental_disease_name DISEASE_NAME:ddr2_related_disorder DDR2-related disorder Supplemental_disease_name DISEASE_NAME:ddrgk1_related_disorder DDRGK1-related disorder Supplemental_disease_name DISEASE_NAME:ddx10_related_disorder DDX10-related disorder Supplemental_disease_name DISEASE_NAME:ddx11_related_condition DDX11-related condition Supplemental_disease_name DISEASE_NAME:ddx17_associated_neurodevelopmental_disorder DDX17-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ddx23_related_disorder DDX23-related disorder Supplemental_disease_name DISEASE_NAME:ddx23_related_neurodevelopmental_disorder DDX23-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ddx3x_related_disorder DDX3X-related disorder Supplemental_disease_name DISEASE_NAME:ddx3x_related_neurodevelopmental_disorder DDX3X-Related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:ddx3x_related_x_linked_intellectual_disability DDX3X-related X-linked intellectual disability Supplemental_disease_name DISEASE_NAME:ddx3y_related_disorder DDX3Y-related disorder Supplemental_disease_name DISEASE_NAME:ddx41_related_disorder DDX41-related disorder Supplemental_disease_name DISEASE_NAME:ddx41_related_hematologic_malignancy_predisposition_syndrome DDX41-related hematologic malignancy predisposition syndrome Supplemental_disease_name DISEASE_NAME:ddx53_related_autism_spectrum_disorder DDX53-related autism spectrum disorder Supplemental_disease_name DISEASE_NAME:ddx53_related_disorder DDX53-related disorder Supplemental_disease_name DISEASE_NAME:ddx54_related_disorder DDX54-related disorder Supplemental_disease_name DISEASE_NAME:ddx54_related_neurodevelopment_syndrome DDX54-related Neurodevelopment Syndrome Supplemental_disease_name DISEASE_NAME:ddx54_related_neurodevelopmental_disorder DDX54-related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:ddx59_related_disorder DDX59-related disorder Supplemental_disease_name DISEASE_NAME:ddx6_related_disorder DDX6-related disorder Supplemental_disease_name DISEASE_NAME:de_barsy_syndrome_autosomal_dominant_spastic_paraplegia_type_9_cutis_laxa_autosomal_dominant_3 de Barsy syndrome;Autosomal dominant spastic paraplegia type 9;Cutis laxa, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:de_barsy_syndrome_cutis_laxa_autosomal_dominant_3_autosomal_dominant_spastic_paraplegia_type_9 de Barsy syndrome;Cutis laxa, autosomal dominant 3;Autosomal dominant spastic paraplegia type 9 Supplemental_disease_name DISEASE_NAME:de_barsy_syndrome_cutis_laxa_autosomal_dominant_3_hereditary_spastic_paraplegia_9a de Barsy syndrome;Cutis laxa, autosomal dominant 3;Hereditary spastic paraplegia 9A Supplemental_disease_name DISEASE_NAME:de_barsy_syndrome_hereditary_spastic_paraplegia_9a_cutis_laxa_autosomal_dominant_3 de Barsy syndrome;Hereditary spastic paraplegia 9A;Cutis laxa, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:de_sanctis_cacchione_syndrome_cerebrooculofacioskeletal_syndrome_1_cockayne_syndrome_type_2 DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2 Supplemental_disease_name DISEASE_NAME:de_sanctis_cacchione_syndrome_cockayne_syndrome_type_2_cerebrooculofacioskeletal_syndrome_1 DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1 Supplemental_disease_name DISEASE_NAME:deaf1_related_disorder DEAF1-related disorder Supplemental_disease_name DISEASE_NAME:deafness Deafness Supplemental_disease_name DISEASE_NAME:deafness_autosomal_dominant Deafness, autosomal dominant Supplemental_disease_name DISEASE_NAME:deafness_autosomal_dominant_39_with_dentinogenesis_imperfecta_1 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 Supplemental_disease_name DISEASE_NAME:deafness_autosomal_dominant_39_with_dentinogenesis_imperfecta_1_dentinogenesis_imperfecta_type_2_pulp_calcification_dentinogenesis_imperfecta_type_3 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1;Dentinogenesis imperfecta type 2;Pulp calcification;Dentinogenesis imperfecta type 3 Supplemental_disease_name DISEASE_NAME:deafness_autosomal_dominant_nonsyndromic_sensorineural_39_with_dentinogenesis_imperfecta_1 Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 Supplemental_disease_name DISEASE_NAME:deafness_autosomal_dominant_with_peripheral_neuropathy Deafness, autosomal dominant, with peripheral neuropathy Supplemental_disease_name DISEASE_NAME:deafness_autosomal_recessive_12_modifier_of Deafness, autosomal recessive 12, modifier of Supplemental_disease_name DISEASE_NAME:deafness_autosomal_recessive_26_modifier_of Deafness, autosomal recessive 26, modifier of Supplemental_disease_name DISEASE_NAME:deafness_autosomal_recessive_36_without_vestibular_involvement Deafness, autosomal recessive 36, without vestibular involvement Supplemental_disease_name DISEASE_NAME:deafness_cataract_impaired_intellectual_development_and_polyneuropathy Deafness, cataract, impaired intellectual development, and polyneuropathy Supplemental_disease_name DISEASE_NAME:deafness_congenital_and_adult_onset_progressive_leukoencephalopathy Deafness, congenital, and adult-onset progressive leukoencephalopathy Supplemental_disease_name DISEASE_NAME:deafness_congenital_heart_defects_and_posterior_embryotoxon Deafness, congenital heart defects, and posterior embryotoxon Supplemental_disease_name DISEASE_NAME:deafness_congenital_heart_defects_and_posterior_embryotoxon_alagille_syndrome_due_to_a_jag1_point_mutation_charcot_marie_tooth_disease_axonal_type_2hh_tetralogy_of_fallot Deafness, congenital heart defects, and posterior embryotoxon;Alagille syndrome due to a JAG1 point mutation;Charcot-Marie-Tooth disease, axonal, Type 2HH;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:deafness_congenital_heart_defects_and_posterior_embryotoxon_alagille_syndrome_due_to_a_jag1_point_mutation_tetralogy_of_fallot Deafness, congenital heart defects, and posterior embryotoxon;Alagille syndrome due to a JAG1 point mutation;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:deafness_congenital_heart_defects_and_posterior_embryotoxon_alagille_syndrome_due_to_a_jag1_point_mutation_tetralogy_of_fallot_charcot_marie_tooth_disease_axonal_type_2hh Deafness, congenital heart defects, and posterior embryotoxon;Alagille syndrome due to a JAG1 point mutation;Tetralogy of Fallot;Charcot-Marie-Tooth disease, axonal, Type 2HH Supplemental_disease_name DISEASE_NAME:deafness_congenital_heart_defects_and_posterior_embryotoxon_charcot_marie_tooth_disease_axonal_type_2hh_alagille_syndrome_due_to_a_jag1_point_mutation_tetralogy_of_fallot Deafness, congenital heart defects, and posterior embryotoxon;Charcot-Marie-Tooth disease, axonal, Type 2HH;Alagille syndrome due to a JAG1 point mutation;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:deafness_congenital_heart_defects_and_posterior_embryotoxon_charcot_marie_tooth_disease_axonal_type_2hh_tetralogy_of_fallot_alagille_syndrome_due_to_a_jag1_point_mutation Deafness, congenital heart defects, and posterior embryotoxon;Charcot-Marie-Tooth disease, axonal, Type 2HH;Tetralogy of Fallot;Alagille syndrome due to a JAG1 point mutation Supplemental_disease_name DISEASE_NAME:deafness_congenital_heart_defects_and_posterior_embryotoxon_tetralogy_of_fallot_alagille_syndrome_due_to_a_jag1_point_mutation_charcot_marie_tooth_disease_axonal_type_2hh Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot;Alagille syndrome due to a JAG1 point mutation;Charcot-Marie-Tooth disease, axonal, Type 2HH Supplemental_disease_name DISEASE_NAME:deafness_congenital_heart_defects_and_posterior_embryotoxon_tetralogy_of_fallot_charcot_marie_tooth_disease_axonal_type_2hh_alagille_syndrome_due_to_a_jag1_point_mutation Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot;Charcot-Marie-Tooth disease, axonal, Type 2HH;Alagille syndrome due to a JAG1 point mutation Supplemental_disease_name DISEASE_NAME:deafness_digenic_gjb2_gjb3 Deafness, digenic, GJB2/GJB3 Supplemental_disease_name DISEASE_NAME:deafness_digenic_gjb2_gjb6 Deafness, digenic, GJB2/GJB6 Supplemental_disease_name DISEASE_NAME:deafness_infertility_disorder Deafness;Infertility disorder Supplemental_disease_name DISEASE_NAME:deafness_infertility_syndrome Deafness-infertility syndrome Supplemental_disease_name DISEASE_NAME:deafness_infertility_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_16_spermatogenic_failure_7 Deafness-infertility syndrome;Autosomal recessive nonsyndromic hearing loss 16;Spermatogenic failure 7 Supplemental_disease_name DISEASE_NAME:deafness_infertility_syndrome_spermatogenic_failure_7_autosomal_recessive_nonsyndromic_hearing_loss_16 Deafness-infertility syndrome;Spermatogenic failure 7;Autosomal recessive nonsyndromic hearing loss 16 Supplemental_disease_name DISEASE_NAME:deafness_lymphedema_leukemia_syndrome Deafness-lymphedema-leukemia syndrome Supplemental_disease_name DISEASE_NAME:deafness_lymphedema_leukemia_syndrome_acute_myeloid_leukemia_monocytopenia_with_susceptibility_to_infections_myelodysplastic_syndrome Deafness-lymphedema-leukemia syndrome;Acute myeloid leukemia;Monocytopenia with susceptibility to infections;Myelodysplastic syndrome Supplemental_disease_name DISEASE_NAME:deafness_lymphedema_leukemia_syndrome_gata2_deficiency_with_susceptibility_to_mds_aml Deafness-lymphedema-leukemia syndrome;GATA2 deficiency with susceptibility to MDS/AML Supplemental_disease_name DISEASE_NAME:deafness_lymphedema_leukemia_syndrome_monocytopenia_with_susceptibility_to_infections Deafness-lymphedema-leukemia syndrome;Monocytopenia with susceptibility to infections Supplemental_disease_name DISEASE_NAME:deafness_lymphedema_leukemia_syndrome_monocytopenia_with_susceptibility_to_infections_myelodysplastic_syndrome_acute_myeloid_leukemia Deafness-lymphedema-leukemia syndrome;Monocytopenia with susceptibility to infections;Myelodysplastic syndrome;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:deafness_mitochondrial_modifier_of Deafness, mitochondrial, modifier of Supplemental_disease_name DISEASE_NAME:deafness_neurosensory_autosomal_recessive_21 Deafness, neurosensory autosomal recessive 21 Supplemental_disease_name DISEASE_NAME:deafness_sensorineural_with_neurologic_features Deafness, sensorineural, with neurologic features Supplemental_disease_name DISEASE_NAME:deafness_with_anatomical_inner_ear_anomalies Deafness with anatomical inner ear anomalies Supplemental_disease_name DISEASE_NAME:deafness_with_labyrinthine_aplasia_microtia_and_microdontia Deafness with labyrinthine aplasia, microtia, and microdontia Supplemental_disease_name DISEASE_NAME:deafness_with_smith_magenis_syndrome Deafness, with smith-magenis syndrome Supplemental_disease_name DISEASE_NAME:deafness_x_linked_5 Deafness, X-linked 5 Supplemental_disease_name DISEASE_NAME:deafness_x_linked_5_charcot_marie_tooth_disease_x_linked_recessive_4_severe_x_linked_mitochondrial_encephalomyopathy Deafness, X-linked 5;Charcot-Marie-Tooth disease X-linked recessive 4;Severe X-linked mitochondrial encephalomyopathy Supplemental_disease_name DISEASE_NAME:deafness_y_linked_2 Deafness, Y-linked 2 Supplemental_disease_name DISEASE_NAME:death_in_early_adulthood Death in early adulthood Supplemental_disease_name DISEASE_NAME:death_in_infancy Death in infancy Supplemental_disease_name DISEASE_NAME:debrisoquine_poor_metabolism_of Debrisoquine, poor metabolism of Supplemental_disease_name DISEASE_NAME:decr1_related_disorder DECR1-related disorder Supplemental_disease_name DISEASE_NAME:decreased_activity_of_mitochondrial_atp_synthase_complex Decreased activity of mitochondrial ATP synthase complex Supplemental_disease_name DISEASE_NAME:decreased_activity_of_mitochondrial_complex_i Decreased activity of mitochondrial complex I Supplemental_disease_name DISEASE_NAME:decreased_activity_of_mitochondrial_complex_iii Decreased activity of mitochondrial complex III Supplemental_disease_name DISEASE_NAME:decreased_activity_of_mitochondrial_complex_iv Decreased activity of mitochondrial complex IV Supplemental_disease_name DISEASE_NAME:decreased_activity_of_the_pyruvate_dehydrogenase_complex Decreased activity of the pyruvate dehydrogenase complex Supplemental_disease_name DISEASE_NAME:decreased_b_cell_survival_and_tolerance Decreased B cell survival and tolerance Supplemental_disease_name DISEASE_NAME:decreased_blood_alpha_hydroxyisovalerate_levels decreased blood alpha-hydroxyisovalerate levels Supplemental_disease_name DISEASE_NAME:decreased_circulating_alkaline_phosphatase_activity Decreased circulating alkaline phosphatase activity Supplemental_disease_name DISEASE_NAME:decreased_circulating_calcitriol_concentration Decreased circulating calcitriol concentration Supplemental_disease_name DISEASE_NAME:decreased_circulating_carnitine_concentration Decreased circulating carnitine concentration Supplemental_disease_name DISEASE_NAME:decreased_circulating_hdl_c_concentration Decreased circulating HDL-C concentration Supplemental_disease_name DISEASE_NAME:decreased_circulating_igg2_concentration Decreased circulating IgG2 concentration Supplemental_disease_name DISEASE_NAME:decreased_circulating_immunoglobulin_concentration Decreased circulating immunoglobulin concentration Supplemental_disease_name DISEASE_NAME:decreased_circulating_immunoglobulin_concentration_arthritis_skin_rash_colitis_immunodeficiency Decreased circulating immunoglobulin concentration;Arthritis;Skin rash;Colitis;Immunodeficiency Supplemental_disease_name DISEASE_NAME:decreased_head_circumference_seizure_global_developmental_delay Decreased head circumference;Seizure;Global developmental delay Supplemental_disease_name DISEASE_NAME:decreased_response_to_growth_hormone_stimulation_test Decreased response to growth hormone stimulation test Supplemental_disease_name DISEASE_NAME:decreased_testicular_size Decreased testicular size Supplemental_disease_name DISEASE_NAME:decreased_total_lymphocyte_count_decreased_total_neutrophil_count Decreased total lymphocyte count;Decreased total neutrophil count Supplemental_disease_name DISEASE_NAME:decreased_total_neutrophil_count Decreased total neutrophil count Supplemental_disease_name DISEASE_NAME:decreased_total_neutrophil_count_decreased_total_lymphocyte_count Decreased total neutrophil count;Decreased total lymphocyte count Supplemental_disease_name DISEASE_NAME:decreased_total_neutrophil_count_premature_ovarian_insufficiency Decreased total neutrophil count;Premature ovarian insufficiency Supplemental_disease_name DISEASE_NAME:deeah_syndrome DEEAH syndrome Supplemental_disease_name DISEASE_NAME:deeah_syndrome_neurodevelopmental_disorder_with_dysmorphic_facies_impaired_speech_and_hypotonia Deeah syndrome;Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia Supplemental_disease_name DISEASE_NAME:deep_venous_thrombosis Deep venous thrombosis Supplemental_disease_name DISEASE_NAME:deep_venous_thrombosis_protection_against Deep venous thrombosis, protection against Supplemental_disease_name DISEASE_NAME:deep_venous_thrombosis_thromboembolism Deep venous thrombosis;Thromboembolism Supplemental_disease_name DISEASE_NAME:deeply_set_eye_seizure_microcephaly Deeply set eye;Seizure;Microcephaly Supplemental_disease_name DISEASE_NAME:def6_related_disorder DEF6-related disorder Supplemental_disease_name DISEASE_NAME:defb128_related_disorder DEFB128-related disorder Supplemental_disease_name DISEASE_NAME:deficiency_of_2_methylbutyryl_coa_dehydrogenase Deficiency of 2-methylbutyryl-CoA dehydrogenase Supplemental_disease_name DISEASE_NAME:deficiency_of_3_hydroxyacyl_coa_dehydrogenase Deficiency of 3-hydroxyacyl-CoA dehydrogenase Supplemental_disease_name DISEASE_NAME:deficiency_of_3_hydroxyacyl_coa_dehydrogenase_hyperinsulinemic_hypoglycemia_familial_4 Deficiency of 3-hydroxyacyl-CoA dehydrogenase;Hyperinsulinemic hypoglycemia, familial, 4 Supplemental_disease_name DISEASE_NAME:deficiency_of_acetyl_coa_acetyltransferase Deficiency of acetyl-CoA acetyltransferase Supplemental_disease_name DISEASE_NAME:deficiency_of_ada2 Deficiency of ADA2 Supplemental_disease_name DISEASE_NAME:deficiency_of_adenosine_deaminase_2 Deficiency of adenosine deaminase 2 Supplemental_disease_name DISEASE_NAME:deficiency_of_adenosine_deaminase_2_sneddon_syndrome Deficiency of adenosine deaminase 2;Sneddon syndrome Supplemental_disease_name DISEASE_NAME:deficiency_of_aromatic_l_amino_acid_decarboxylase Deficiency of aromatic-L-amino-acid decarboxylase Supplemental_disease_name DISEASE_NAME:deficiency_of_beta_ureidopropionase Deficiency of beta-ureidopropionase Supplemental_disease_name DISEASE_NAME:deficiency_of_bisphosphoglycerate_mutase Deficiency of bisphosphoglycerate mutase Supplemental_disease_name DISEASE_NAME:deficiency_of_butyryl_coa_dehydrogenase Deficiency of butyryl-CoA dehydrogenase Supplemental_disease_name DISEASE_NAME:deficiency_of_butyrylcholinesterase Deficiency of butyrylcholinesterase Supplemental_disease_name DISEASE_NAME:deficiency_of_carnitine_acetyltransferase Deficiency of carnitine acetyltransferase Supplemental_disease_name DISEASE_NAME:deficiency_of_cytochrome_b5_reductase Deficiency of cytochrome-b5 reductase Supplemental_disease_name DISEASE_NAME:deficiency_of_ferroxidase Deficiency of ferroxidase Supplemental_disease_name DISEASE_NAME:deficiency_of_fructose_bisphosphatase Deficiency of fructose-bisphosphatase Supplemental_disease_name DISEASE_NAME:deficiency_of_galactokinase Deficiency of galactokinase Supplemental_disease_name DISEASE_NAME:deficiency_of_guanidinoacetate_methyltransferase Deficiency of guanidinoacetate methyltransferase Supplemental_disease_name DISEASE_NAME:deficiency_of_hyaluronoglucosaminidase Deficiency of hyaluronoglucosaminidase Supplemental_disease_name DISEASE_NAME:deficiency_of_hydroxymethylglutaryl_coa_lyase Deficiency of hydroxymethylglutaryl-CoA lyase Supplemental_disease_name DISEASE_NAME:deficiency_of_iodide_peroxidase Deficiency of iodide peroxidase Supplemental_disease_name DISEASE_NAME:deficiency_of_isobutyryl_coa_dehydrogenase Deficiency of isobutyryl-CoA dehydrogenase Supplemental_disease_name DISEASE_NAME:deficiency_of_malonyl_coa_decarboxylase Deficiency of malonyl-CoA decarboxylase Supplemental_disease_name DISEASE_NAME:deficiency_of_mevalonate_kinase Deficiency of mevalonate kinase Supplemental_disease_name DISEASE_NAME:deficiency_of_phosphoserine_phosphatase Deficiency of phosphoserine phosphatase Supplemental_disease_name DISEASE_NAME:deficiency_of_pyrroline_5_carboxylate_reductase Deficiency of pyrroline-5-carboxylate reductase Supplemental_disease_name DISEASE_NAME:deficiency_of_ribose_5_phosphate_isomerase Deficiency of ribose-5-phosphate isomerase Supplemental_disease_name DISEASE_NAME:deficiency_of_steroid_11_beta_monooxygenase Deficiency of steroid 11-beta-monooxygenase Supplemental_disease_name DISEASE_NAME:deficiency_of_steroid_11_beta_monooxygenase_glucocorticoid_remediable_aldosteronism Deficiency of steroid 11-beta-monooxygenase;Glucocorticoid-remediable aldosteronism Supplemental_disease_name DISEASE_NAME:deficiency_of_steroid_17_alpha_monooxygenase Deficiency of steroid 17-alpha-monooxygenase Supplemental_disease_name DISEASE_NAME:deficiency_of_the_interleukin_36_receptor_antagonist Deficiency of the interleukin-36 receptor antagonist Supplemental_disease_name DISEASE_NAME:deficiency_of_transaldolase Deficiency of transaldolase Supplemental_disease_name DISEASE_NAME:deficiency_of_udpglucose_hexose_1_phosphate_uridylyltransferase Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Supplemental_disease_name DISEASE_NAME:deficiency_of_xanthine_oxidase Deficiency of xanthine oxidase Supplemental_disease_name DISEASE_NAME:degcags_syndrome DEGCAGS syndrome Supplemental_disease_name DISEASE_NAME:degs1_related_disorder DEGS1-related disorder Supplemental_disease_name DISEASE_NAME:degs1_related_hypomyelinating_leukodystrophy DEGS1-related Hypomyelinating Leukodystrophy Supplemental_disease_name DISEASE_NAME:dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and_or_perinatal_edema Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Supplemental_disease_name DISEASE_NAME:dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and_or_perinatal_edema_blood_group_er_lymphatic_malformation_6 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema;Blood group, ER;Lymphatic malformation 6 Supplemental_disease_name DISEASE_NAME:dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and_or_perinatal_edema_lymphatic_malformation_6 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema;Lymphatic malformation 6 Supplemental_disease_name DISEASE_NAME:dejerine_sottas_disease Dejerine-Sottas disease Supplemental_disease_name DISEASE_NAME:dejerine_sottas_disease_charcot_marie_tooth_disease_type_1e Dejerine-Sottas disease;Charcot-Marie-Tooth disease type 1E Supplemental_disease_name DISEASE_NAME:dejerine_sottas_disease_charcot_marie_tooth_disease_type_2j_charcot_marie_tooth_disease_type_1b_congenital_hypomyelinating_neuropathy Dejerine-Sottas disease;Charcot-Marie-Tooth disease type 2J;Charcot-Marie-Tooth disease type 1B;Congenital hypomyelinating neuropathy Supplemental_disease_name DISEASE_NAME:dejerine_sottas_disease_charcot_marie_tooth_disease_type_4f Dejerine-Sottas disease;Charcot-Marie-Tooth disease type 4F Supplemental_disease_name DISEASE_NAME:dejerine_sottas_disease_charcot_marie_tooth_disease_type_ia Dejerine-Sottas disease;Charcot-Marie-Tooth disease, type IA Supplemental_disease_name DISEASE_NAME:dejerine_sottas_neuropathy_autosomal_dominant Dejerine-sottas neuropathy, autosomal dominant Supplemental_disease_name DISEASE_NAME:dejerine_sottas_syndrome_autosomal_dominant DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT Supplemental_disease_name DISEASE_NAME:del2p16_3 del2p16.3 Supplemental_disease_name DISEASE_NAME:del3q29 del3q29 Supplemental_disease_name DISEASE_NAME:delayed_ability_to_walk Delayed ability to walk Supplemental_disease_name DISEASE_NAME:delayed_fine_motor_development_intention_tremor_joint_laxity_motor_delay_expressive_language_delay Delayed fine motor development;Intention tremor;Joint laxity;Motor delay;Expressive language delay Supplemental_disease_name DISEASE_NAME:delayed_fine_motor_development_severe_global_developmental_delay_gait_disturbance_aggressive_behavior_seizure Delayed fine motor development;Severe global developmental delay;Gait disturbance;Aggressive behavior;Seizure Supplemental_disease_name DISEASE_NAME:delayed_fine_motor_development_severe_global_developmental_delay_hypoplasia_of_the_frontal_lobes_gait_ataxia Delayed fine motor development;Severe global developmental delay;Hypoplasia of the frontal lobes;Gait ataxia Supplemental_disease_name DISEASE_NAME:delayed_gross_motor_development Delayed gross motor development Supplemental_disease_name DISEASE_NAME:delayed_gross_motor_development_bilateral_ptosis_stridor_respiratory_insufficiency Delayed gross motor development;Bilateral ptosis;Stridor;Respiratory insufficiency Supplemental_disease_name DISEASE_NAME:delayed_gross_motor_development_bilateral_sensorineural_hearing_impairment_motor_delay_global_developmental_delay Delayed gross motor development;Bilateral sensorineural hearing impairment;Motor delay;Global developmental delay Supplemental_disease_name DISEASE_NAME:delayed_gross_motor_development_loss_of_ambulation_delayed_speech_and_language_development Delayed gross motor development;Loss of ambulation;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:delayed_gross_motor_development_mild_expressive_language_delay Delayed gross motor development;Mild expressive language delay Supplemental_disease_name DISEASE_NAME:delayed_gross_motor_development_neonatal_respiratory_distress_scoliosis Delayed gross motor development;Neonatal respiratory distress;Scoliosis Supplemental_disease_name DISEASE_NAME:delayed_gross_motor_development_scoliosis_progressive_distal_muscle_weakness_pelvic_girdle_muscle_weakness_proximal_muscle_weakness Delayed gross motor development;Scoliosis;Progressive distal muscle weakness;Pelvic girdle muscle weakness;Proximal muscle weakness Supplemental_disease_name DISEASE_NAME:delayed_gross_motor_development_short_stature_proximal_amyotrophy_congenital_contracture Delayed gross motor development;Short stature;Proximal amyotrophy;Congenital contracture Supplemental_disease_name DISEASE_NAME:delayed_puberty Delayed puberty Supplemental_disease_name DISEASE_NAME:delayed_puberty_self_limited Delayed puberty, self-limited Supplemental_disease_name DISEASE_NAME:delayed_skeletal_maturation Delayed skeletal maturation Supplemental_disease_name DISEASE_NAME:delayed_sleep_phase_syndrome_susceptibility_to Delayed sleep phase syndrome, susceptibility to Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development Delayed speech and language development Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_abnormal_facial_shape_seizure_conductive_hearing_impairment_global_developmental_delay Delayed speech and language development;Abnormal facial shape;Seizure;Conductive hearing impairment;Global developmental delay Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_abnormal_speech_pattern_obsessive_compulsive_trait Delayed speech and language development;Abnormal speech pattern;Obsessive-compulsive trait Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_cognitive_impairment Delayed speech and language development;Cognitive impairment Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_dysmorphic_features_hypotonia Delayed speech and language development;Dysmorphic features;Hypotonia Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_falls Delayed speech and language development;Falls Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_global_developmental_delay Delayed speech and language development;Global developmental delay Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_hemiplegia_oculogyric_crisis_apnea_seizure Delayed speech and language development;Hemiplegia;Oculogyric crisis;Apnea;Seizure Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_hypertonia_seizure_moderate_global_developmental_delay Delayed speech and language development;Hypertonia;Seizure;Moderate global developmental delay Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_intellectual_disability Delayed speech and language development;Intellectual disability Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_macrocephaly Delayed speech and language development;Macrocephaly Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_moderate_intellectual_disability_hypotonia_cerebellar_ataxia Delayed speech and language development;Moderate intellectual disability;Hypotonia;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_motor_delay_atypical_behavior_global_developmental_delay Delayed speech and language development;Motor delay;Atypical behavior;Global developmental delay Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_premature_birth_cafe_au_lait_spots_multiple_floppy_infant Delayed speech and language development;Premature birth;Cafe au lait spots, multiple;Floppy infant Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_seizure_microcephaly_severe_intellectual_disability_hypotonia Delayed speech and language development;Seizure;Microcephaly;Severe intellectual disability;Hypotonia Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_short_attention_span_hyperactivity_specific_learning_disability_reduced_social_responsiveness Delayed speech and language development;Short attention span;Hyperactivity;Specific learning disability;Reduced social responsiveness Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_short_stature_brain_imaging_abnormality_global_developmental_delay_intellectual_disability Delayed speech and language development;Short stature;Brain imaging abnormality;Global developmental delay;Intellectual disability Supplemental_disease_name DISEASE_NAME:delayed_speech_and_language_development_vesicoureteral_reflux_motor_delay_strabismus Delayed speech and language development;Vesicoureteral reflux;Motor delay;Strabismus Supplemental_disease_name DISEASE_NAME:deleterious_rad51d_gene_mutation Deleterious RAD51D Gene Mutation Supplemental_disease_name DISEASE_NAME:deletion_6q16_q21 Deletion 6q16 q21 Supplemental_disease_name DISEASE_NAME:deletion_of_long_arm_of_chromosome_18 Deletion of long arm of chromosome 18 Supplemental_disease_name DISEASE_NAME:deletion_of_short_arm_of_chromosome_18 Deletion of short arm of chromosome 18 Supplemental_disease_name DISEASE_NAME:deletion_syndrome Deletion syndrome Supplemental_disease_name DISEASE_NAME:delpire_mcneill_syndrome Delpire-McNeill syndrome Supplemental_disease_name DISEASE_NAME:delpire_mcneill_syndrome_kilquist_syndrome Delpire-McNeill syndrome;Kilquist syndrome Supplemental_disease_name DISEASE_NAME:delpire_mcneill_syndrome_kilquist_syndrome_hearing_loss_autosomal_dominant_78 Delpire-McNeill syndrome;Kilquist syndrome;Hearing loss, autosomal dominant 78 Supplemental_disease_name DISEASE_NAME:delta_0_thalassemia Delta-0-thalassemia Supplemental_disease_name DISEASE_NAME:delta_plus_thalassemia Delta-plus-thalassemia Supplemental_disease_name DISEASE_NAME:delta_thalassemia delta Thalassemia Supplemental_disease_name DISEASE_NAME:dementia_bilateral_tonic_clonic_seizure Dementia;Bilateral tonic-clonic seizure Supplemental_disease_name DISEASE_NAME:dementia_lewy_body_susceptibility_to Dementia, Lewy body, susceptibility to Supplemental_disease_name DISEASE_NAME:demyelinating_peripheral_neuropathy Demyelinating peripheral neuropathy Supplemental_disease_name DISEASE_NAME:demyelinating_peripheral_neuropathy_cerebellar_ataxia Demyelinating peripheral neuropathy;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:den_hoed_de_boer_voisin_syndrome Den Hoed-de Boer-Voisin syndrome Supplemental_disease_name DISEASE_NAME:dend_syndrome DEND syndrome Supplemental_disease_name DISEASE_NAME:dendritic_cell_monocyte_b_lymphocyte_and_natural_killer_lymphocyte_deficiency Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Supplemental_disease_name DISEASE_NAME:dengue_fever_protection_against Dengue fever, protection against Supplemental_disease_name DISEASE_NAME:dengue_virus_susceptibility_to_susceptibility_to_hiv_infection_mycobacterium_tuberculosis_susceptibility_to Dengue virus, susceptibility to;Susceptibility to HIV infection;Mycobacterium tuberculosis, susceptibility to Supplemental_disease_name DISEASE_NAME:dennd4b_related_disorder DENND4B-related disorder Supplemental_disease_name DISEASE_NAME:dennd5a_related_disorder DENND5A-related disorder Supplemental_disease_name DISEASE_NAME:dennd5b_related_condition DENND5B related condition Supplemental_disease_name DISEASE_NAME:dennd5b_related_neurodevelopmental_disorder DENND5B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:denndb5_associated_neurodevelopmental_disorder DENNDB5-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:denr_related_disorder DENR-related disorder Supplemental_disease_name DISEASE_NAME:dent_disease_type_1 Dent disease type 1 Supplemental_disease_name DISEASE_NAME:dent_disease_type_1_hypophosphatemic_rickets_x_linked_recessive_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_x_linked_recessive_nephrolithiasis_with_renal_failure Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;X-linked recessive nephrolithiasis with renal failure Supplemental_disease_name DISEASE_NAME:dent_disease_type_1_hypophosphatemic_rickets_x_linked_recessive_x_linked_recessive_nephrolithiasis_with_renal_failure_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Supplemental_disease_name DISEASE_NAME:dent_disease_type_1_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_hypophosphatemic_rickets_x_linked_recessive_x_linked_recessive_nephrolithiasis_with_renal_failure Dent disease type 1;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure Supplemental_disease_name DISEASE_NAME:dent_disease_type_1_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_x_linked_recessive_nephrolithiasis_with_renal_failure_hypophosphatemic_rickets_x_linked_recessive Dent disease type 1;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;X-linked recessive nephrolithiasis with renal failure;Hypophosphatemic rickets, X-linked recessive Supplemental_disease_name DISEASE_NAME:dent_disease_type_1_x_linked_recessive_nephrolithiasis_with_renal_failure_hypophosphatemic_rickets_x_linked_recessive_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis Dent disease type 1;X-linked recessive nephrolithiasis with renal failure;Hypophosphatemic rickets, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Supplemental_disease_name DISEASE_NAME:dent_disease_type_1_x_linked_recessive_nephrolithiasis_with_renal_failure_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_hypophosphatemic_rickets_x_linked_recessive Dent disease type 1;X-linked recessive nephrolithiasis with renal failure;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Hypophosphatemic rickets, X-linked recessive Supplemental_disease_name DISEASE_NAME:dent_disease_type_2 Dent disease type 2 Supplemental_disease_name DISEASE_NAME:dent_disease_type_2_lowe_syndrome Dent disease type 2;Lowe syndrome Supplemental_disease_name DISEASE_NAME:dentatorubral_pallidoluysian_atrophy_congenital_hypotonia_epilepsy_developmental_delay_and_digital_anomalies Dentatorubral-pallidoluysian atrophy;Congenital hypotonia, epilepsy, developmental delay, and digital anomalies Supplemental_disease_name DISEASE_NAME:dentici_novelli_neurodevelopmental_syndrome Dentici-Novelli neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:dentin_dysplasia_type_i Dentin dysplasia type I Supplemental_disease_name DISEASE_NAME:dentin_dysplasia_type_ii_dtdp2 Dentin dysplasia, Type II; DTDP2 Supplemental_disease_name DISEASE_NAME:dentinogenesis_imperfecta_type_2 Dentinogenesis imperfecta type 2 Supplemental_disease_name DISEASE_NAME:dentinogenesis_imperfecta_type_2_dentin_dysplasia_type_ii_dtdp2 Dentinogenesis imperfecta type 2;Dentin dysplasia, Type II; DTDP2 Supplemental_disease_name DISEASE_NAME:dentinogenesis_imperfecta_type_3 Dentinogenesis imperfecta type 3 Supplemental_disease_name DISEASE_NAME:depdc5_related_disorder DEPDC5-related disorder Supplemental_disease_name DISEASE_NAME:dermatitis_atopic Dermatitis, atopic Supplemental_disease_name DISEASE_NAME:dermatitis_atopic_2 Dermatitis, atopic, 2 Supplemental_disease_name DISEASE_NAME:dermatitis_atopic_2_ichthyosis_vulgaris Dermatitis, atopic, 2;Ichthyosis vulgaris Supplemental_disease_name DISEASE_NAME:dermatitis_atopic_2_susceptibility_to Dermatitis, atopic, 2, susceptibility to Supplemental_disease_name DISEASE_NAME:dermatofibrosis_lenticularis_disseminata Dermatofibrosis lenticularis disseminata Supplemental_disease_name DISEASE_NAME:dermatofibrosis_lenticularis_disseminata_isolated Dermatofibrosis lenticularis disseminata, isolated Supplemental_disease_name DISEASE_NAME:des_related_cardiomyopathy DES-related cardiomyopathy Supplemental_disease_name DISEASE_NAME:des_related_desminopathy DES-related desminopathy Supplemental_disease_name DISEASE_NAME:des_related_disorder DES-related disorder Supplemental_disease_name DISEASE_NAME:desanto_shinawi_syndrome_desanto_shinawi_syndrome_due_to_wac_point_mutation DeSanto-Shinawi syndrome;DeSanto-Shinawi syndrome due to WAC point mutation Supplemental_disease_name DISEASE_NAME:desanto_shinawi_syndrome_due_to_wac_point_mutation DeSanto-Shinawi syndrome due to WAC point mutation Supplemental_disease_name DISEASE_NAME:desanto_shinawi_syndrome_due_to_wac_point_mutation_desanto_shinawi_syndrome DeSanto-Shinawi syndrome due to WAC point mutation;DeSanto-Shinawi syndrome Supplemental_disease_name DISEASE_NAME:desbuquois_dysplasia_1 Desbuquois dysplasia 1 Supplemental_disease_name DISEASE_NAME:desbuquois_dysplasia_1_epiphyseal_dysplasia_multiple_7 Desbuquois dysplasia 1;Epiphyseal dysplasia, multiple, 7 Supplemental_disease_name DISEASE_NAME:desbuquois_dysplasia_2 Desbuquois dysplasia 2 Supplemental_disease_name DISEASE_NAME:desbuquois_dysplasia_2_autosomal_recessive_inherited_pseudoxanthoma_elasticum Desbuquois dysplasia 2;Autosomal recessive inherited pseudoxanthoma elasticum Supplemental_disease_name DISEASE_NAME:descending_aortic_dissection Descending aortic dissection Supplemental_disease_name DISEASE_NAME:desflurane_response_toxicity desflurane response - Toxicity Supplemental_disease_name DISEASE_NAME:desmin_related_myofibrillar_myopathy Desmin-related myofibrillar myopathy Supplemental_disease_name DISEASE_NAME:desmin_related_myofibrillar_myopathy_dilated_cardiomyopathy_1i Desmin-related myofibrillar myopathy;Dilated cardiomyopathy 1I Supplemental_disease_name DISEASE_NAME:desmin_related_myofibrillar_myopathy_dilated_cardiomyopathy_1i_neurogenic_scapuloperoneal_syndrome_kaeser_type Desmin-related myofibrillar myopathy;Dilated cardiomyopathy 1I;Neurogenic scapuloperoneal syndrome, Kaeser type Supplemental_disease_name DISEASE_NAME:desmin_related_myofibrillar_myopathy_neurogenic_scapuloperoneal_syndrome_kaeser_type_dilated_cardiomyopathy_1i Desmin-related myofibrillar myopathy;Neurogenic scapuloperoneal syndrome, Kaeser type;Dilated cardiomyopathy 1I Supplemental_disease_name DISEASE_NAME:desmin_related_myofibrillar_myopathy_primary_dilated_cardiomyopathy Desmin-related myofibrillar myopathy;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary Desmoid disease, hereditary Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary_carcinoma_of_colon_hepatocellular_carcinoma_familial_adenomatous_polyposis_1_neoplasm_of_stomach Desmoid disease, hereditary;Carcinoma of colon;Hepatocellular carcinoma;Familial adenomatous polyposis 1;Neoplasm of stomach Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary_colorectal_cancer_familial_adenomatous_polyposis_1 Desmoid disease, hereditary;Colorectal cancer;Familial adenomatous polyposis 1 Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary_familial_adenomatous_polyposis_1 Desmoid disease, hereditary;Familial adenomatous polyposis 1 Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary_familial_adenomatous_polyposis_1_neoplasm_of_stomach_carcinoma_of_colon_hepatocellular_carcinoma Desmoid disease, hereditary;Familial adenomatous polyposis 1;Neoplasm of stomach;Carcinoma of colon;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary_familial_adenomatous_polyposis_1_neoplasm_of_stomach_hepatocellular_carcinoma_carcinoma_of_colon Desmoid disease, hereditary;Familial adenomatous polyposis 1;Neoplasm of stomach;Hepatocellular carcinoma;Carcinoma of colon Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary_gastric_cancer_familial_adenomatous_polyposis_1 Desmoid disease, hereditary;Gastric cancer;Familial adenomatous polyposis 1 Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary_hepatocellular_carcinoma_carcinoma_of_colon_familial_adenomatous_polyposis_1_neoplasm_of_stomach Desmoid disease, hereditary;Hepatocellular carcinoma;Carcinoma of colon;Familial adenomatous polyposis 1;Neoplasm of stomach Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary_hepatocellular_carcinoma_familial_adenomatous_polyposis_1_neoplasm_of_stomach_carcinoma_of_colon Desmoid disease, hereditary;Hepatocellular carcinoma;Familial adenomatous polyposis 1;Neoplasm of stomach;Carcinoma of colon Supplemental_disease_name DISEASE_NAME:desmoid_disease_hereditary_neoplasm_of_stomach_carcinoma_of_colon_familial_adenomatous_polyposis_1_hepatocellular_carcinoma Desmoid disease, hereditary;Neoplasm of stomach;Carcinoma of colon;Familial adenomatous polyposis 1;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:desmoid_tumor_caused_by_somatic_mutation Desmoid tumor caused by somatic mutation Supplemental_disease_name DISEASE_NAME:deuteranomaly Deuteranomaly Supplemental_disease_name DISEASE_NAME:deutetrabenazine_response Deutetrabenazine response Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_101_neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_dominant_neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_recessive Developmental and epileptic encephalopathy 101;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_104_neurodevelopmental_disorder_with_epilepsy_and_brain_atrophy Developmental and epileptic encephalopathy 104;Neurodevelopmental disorder with epilepsy and brain atrophy Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_105_with_hypopituitarism Developmental and epileptic encephalopathy 105 with hypopituitarism Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_11_episodic_ataxia_type_9_seizures_benign_familial_infantile_3 Developmental and epileptic encephalopathy, 11;Episodic ataxia, type 9;Seizures, benign familial infantile, 3 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_11_seizures_benign_familial_infantile_3 Developmental and epileptic encephalopathy, 11;Seizures, benign familial infantile, 3 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_11_seizures_benign_familial_infantile_3_episodic_ataxia_type_9 Developmental and epileptic encephalopathy, 11;Seizures, benign familial infantile, 3;Episodic ataxia, type 9 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_13_cognitive_impairment_with_or_without_cerebellar_ataxia Developmental and epileptic encephalopathy, 13;Cognitive impairment with or without cerebellar ataxia Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_13_cognitive_impairment_with_or_without_cerebellar_ataxia_seizures_benign_familial_infantile_5 Developmental and epileptic encephalopathy, 13;Cognitive impairment with or without cerebellar ataxia;Seizures, benign familial infantile, 5 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_13_myoclonus_familial_2_cognitive_impairment_with_or_without_cerebellar_ataxia_seizures_benign_familial_infantile_5 Developmental and epileptic encephalopathy, 13;Myoclonus, familial, 2;Cognitive impairment with or without cerebellar ataxia;Seizures, benign familial infantile, 5 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_13_myoclonus_familial_2_seizures_benign_familial_infantile_5 Developmental and epileptic encephalopathy, 13;Myoclonus, familial, 2;Seizures, benign familial infantile, 5 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_13_seizures_benign_familial_infantile_5 Developmental and epileptic encephalopathy, 13;Seizures, benign familial infantile, 5 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_13_seizures_benign_familial_infantile_5_cognitive_impairment_with_or_without_cerebellar_ataxia_myoclonus_familial_2 Developmental and epileptic encephalopathy, 13;Seizures, benign familial infantile, 5;Cognitive impairment with or without cerebellar ataxia;Myoclonus, familial, 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_13_seizures_benign_familial_infantile_5_myoclonus_familial_2_cognitive_impairment_with_or_without_cerebellar_ataxia Developmental and epileptic encephalopathy, 13;Seizures, benign familial infantile, 5;Myoclonus, familial, 2;Cognitive impairment with or without cerebellar ataxia Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_14_autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5 Developmental and epileptic encephalopathy, 14;Autosomal dominant nocturnal frontal lobe epilepsy 5 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_15_intellectual_disability_autosomal_recessive_12 Developmental and epileptic encephalopathy, 15;Intellectual disability, autosomal recessive 12 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_16_doors_syndrome_familial_infantile_myoclonic_epilepsy_rolandic_epilepsy_paroxysmal_exercise_induced_dystonia_writer_s_cramp_syndrome Developmental and epileptic encephalopathy, 16;DOORS syndrome;Familial infantile myoclonic epilepsy;Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_16_familial_infantile_myoclonic_epilepsy_doors_syndrome_autosomal_dominant_nonsyndromic_hearing_loss_65_autosomal_recessive_nonsyndromic_hearing_loss_86 Developmental and epileptic encephalopathy, 16;Familial infantile myoclonic epilepsy;DOORS syndrome;Autosomal dominant nonsyndromic hearing loss 65;Autosomal recessive nonsyndromic hearing loss 86 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_17_neurodevelopmental_disorder_with_involuntary_movements Developmental and epileptic encephalopathy, 17;Neurodevelopmental disorder with involuntary movements Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_19_epilepsy_idiopathic_generalized_susceptibility_to_13 Developmental and epileptic encephalopathy, 19;Epilepsy, idiopathic generalized, susceptibility to, 13 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_1_autosomal_dominant_nonsyndromic_hearing_loss_65_caused_by_mutation_in_the_tbc1_domain_family_member_24 Developmental and epileptic encephalopathy, 1;Autosomal dominant nonsyndromic hearing loss 65;Caused by mutation in the TBC1 domain family, member 24 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_1_autosomal_dominant_nonsyndromic_hearing_loss_65_not_provided Developmental and epileptic encephalopathy, 1;Autosomal dominant nonsyndromic hearing loss 65;not provided Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_1_autosomal_recessive_spinocerebellar_ataxia_12 Developmental and epileptic encephalopathy, 1;Autosomal recessive spinocerebellar ataxia 12 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_1_caused_by_mutation_in_the_tbc1_domain_family_member_24_autosomal_dominant_nonsyndromic_hearing_loss_65 Developmental and epileptic encephalopathy, 1;Caused by mutation in the TBC1 domain family, member 24;Autosomal dominant nonsyndromic hearing loss 65 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_1_corpus_callosum_agenesis_abnormal_genitalia_syndrome_partington_syndrome_x_linked_lissencephaly_with_abnormal_genitalia_intellectual_disability_x_linked_with_or_without_seizures_arx_related Developmental and epileptic encephalopathy, 1;Corpus callosum agenesis-abnormal genitalia syndrome;Partington syndrome;X-linked lissencephaly with abnormal genitalia;Intellectual disability, X-linked, with or without seizures, ARX-related Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_1_intellectual_disability_x_linked_with_or_without_seizures_arx_related Developmental and epileptic encephalopathy, 1;Intellectual disability, X-linked, with or without seizures, ARX-related Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_1_intellectual_disability_x_linked_with_or_without_seizures_arx_related_corpus_callosum_agenesis_abnormal_genitalia_syndrome_partington_syndrome_x_linked_lissencephaly_with_abnormal_genitalia Developmental and epileptic encephalopathy, 1;Intellectual disability, X-linked, with or without seizures, ARX-related;Corpus callosum agenesis-abnormal genitalia syndrome;Partington syndrome;X-linked lissencephaly with abnormal genitalia Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_1_not_provided_autosomal_dominant_nonsyndromic_hearing_loss_65 Developmental and epileptic encephalopathy, 1;not provided;Autosomal dominant nonsyndromic hearing loss 65 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_1_partington_syndrome_x_linked_lissencephaly_with_abnormal_genitalia_corpus_callosum_agenesis_abnormal_genitalia_syndrome_intellectual_disability_x_linked_with_or_without_seizures_arx_related Developmental and epileptic encephalopathy, 1;Partington syndrome;X-linked lissencephaly with abnormal genitalia;Corpus callosum agenesis-abnormal genitalia syndrome;Intellectual disability, X-linked, with or without seizures, ARX-related Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_23_familial_hypobetalipoproteinemia_2 Developmental and epileptic encephalopathy, 23;Familial hypobetalipoproteinemia 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_24_generalized_epilepsy_with_febrile_seizures_plus_type_10 Developmental and epileptic encephalopathy, 24;Generalized epilepsy with febrile seizures plus, type 10 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_27_intellectual_disability_autosomal_dominant_6 Developmental and epileptic encephalopathy, 27;Intellectual disability, autosomal dominant 6 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_28_autosomal_recessive_spinocerebellar_ataxia_12 Developmental and epileptic encephalopathy, 28;Autosomal recessive spinocerebellar ataxia 12 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_28_autosomal_recessive_spinocerebellar_ataxia_12_malignant_tumor_of_esophagus Developmental and epileptic encephalopathy, 28;Autosomal recessive spinocerebellar ataxia 12;Malignant tumor of esophagus Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_28_malignant_tumor_of_esophagus_autosomal_recessive_spinocerebellar_ataxia_12 Developmental and epileptic encephalopathy, 28;Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_29_charcot_marie_tooth_disease_axonal_type_2n Developmental and epileptic encephalopathy, 29;Charcot-Marie-Tooth disease axonal type 2N Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_29_leukoencephalopathy_hereditary_diffuse_with_spheroids_2_trichothiodystrophy_8_nonphotosensitive_charcot_marie_tooth_disease_axonal_type_2n Developmental and epileptic encephalopathy, 29;Leukoencephalopathy, hereditary diffuse, with spheroids 2;Trichothiodystrophy 8, nonphotosensitive;Charcot-Marie-Tooth disease axonal type 2N Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_29_trichothiodystrophy_8_nonphotosensitive Developmental and epileptic encephalopathy, 29;Trichothiodystrophy 8, nonphotosensitive Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_2_angelman_syndrome_like Developmental and epileptic encephalopathy, 2;Angelman syndrome-like Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_31a_developmental_and_epileptic_encephalopathy_31b Developmental and epileptic encephalopathy, 31A;Developmental and epileptic encephalopathy, 31B Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_33_intellectual_disability_autosomal_dominant_38 Developmental and epileptic encephalopathy, 33;Intellectual disability, autosomal dominant 38 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_34_epilepsy_idiopathic_generalized_susceptibility_to_14 Developmental and epileptic encephalopathy, 34;Epilepsy, idiopathic generalized, susceptibility to, 14 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_35_inosine_triphosphatase_deficiency Developmental and epileptic encephalopathy, 35;Inosine triphosphatase deficiency Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_36_congenital_disorder_of_glycosylation Developmental and epileptic encephalopathy, 36;Congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_3_intellectual_developmental_disorder_autosomal_recessive_75_with_neuropsychiatric_features_and_variant_lissencephaly Developmental and epileptic encephalopathy, 3;Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_42_episodic_ataxia_type_2 Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_42_episodic_ataxia_type_2_familial_hemiplegic_migraine Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2;Familial hemiplegic migraine Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_42_episodic_ataxia_type_2_migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6 Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_42_episodic_ataxia_type_2_spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1 Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_42_migraine_familial_hemiplegic_1 Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_42_migraine_familial_hemiplegic_1_episodic_ataxia_type_2_spinocerebellar_ataxia_type_6 Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1;Episodic ataxia type 2;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_42_migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6_episodic_ataxia_type_2 Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_42_spinocerebellar_ataxia_type_6 Developmental and epileptic encephalopathy, 42;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_42_spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1_episodic_ataxia_type_2 Developmental and epileptic encephalopathy, 42;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_43_epilepsy_childhood_absence_susceptibility_to_5 Developmental and epileptic encephalopathy, 43;Epilepsy, childhood absence, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_44_spinocerebellar_ataxia_autosomal_recessive_24 Developmental and epileptic encephalopathy, 44;Spinocerebellar ataxia, autosomal recessive 24 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_4_cerebellar_vermis_hypoplasia Developmental and epileptic encephalopathy, 4;Cerebellar vermis hypoplasia Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_4_cerebellar_vermis_hypoplasia_west_syndrome Developmental and epileptic encephalopathy, 4;Cerebellar vermis hypoplasia;West syndrome Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_52_atrial_fibrillation_familial_13_brugada_syndrome_5_generalized_epilepsy_with_febrile_seizures_plus_type_1 Developmental and epileptic encephalopathy, 52;Atrial fibrillation, familial, 13;Brugada syndrome 5;Generalized epilepsy with febrile seizures plus, type 1 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_52_brugada_syndrome_5_generalized_epilepsy_with_febrile_seizures_plus_type_1_atrial_fibrillation_familial_13 Developmental and epileptic encephalopathy, 52;Brugada syndrome 5;Generalized epilepsy with febrile seizures plus, type 1;Atrial fibrillation, familial, 13 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_52_developmental_and_epileptic_encephalopathy_1_generalized_epilepsy_with_febrile_seizures_plus_type_1 Developmental and epileptic encephalopathy, 52;Developmental and epileptic encephalopathy, 1;Generalized epilepsy with febrile seizures plus, type 1 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_52_episodic_ataxia_type_2_spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1 Developmental and epileptic encephalopathy, 52;Episodic ataxia type 2;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_52_generalized_epilepsy_with_febrile_seizures_plus_type_1_atrial_fibrillation_familial_13_brugada_syndrome_5 Developmental and epileptic encephalopathy, 52;Generalized epilepsy with febrile seizures plus, type 1;Atrial fibrillation, familial, 13;Brugada syndrome 5 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_52_generalized_epilepsy_with_febrile_seizures_plus_type_1_brugada_syndrome_5_atrial_fibrillation_familial_13 Developmental and epileptic encephalopathy, 52;Generalized epilepsy with febrile seizures plus, type 1;Brugada syndrome 5;Atrial fibrillation, familial, 13 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_52_migraine_familial_hemiplegic_1_episodic_ataxia_type_2_spinocerebellar_ataxia_type_6 Developmental and epileptic encephalopathy, 52;Migraine, familial hemiplegic, 1;Episodic ataxia type 2;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_53_early_onset_parkinson_disease_20 Developmental and epileptic encephalopathy, 53;Early-onset Parkinson disease 20 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_58_obesity_hyperphagia_and_developmental_delay Developmental and epileptic encephalopathy, 58;Obesity, hyperphagia, and developmental delay Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_59_tobacco_addiction_susceptibility_to_neurodevelopmental_disorder_with_poor_language_and_loss_of_hand_skills Developmental and epileptic encephalopathy, 59;Tobacco addiction, susceptibility to;Neurodevelopmental disorder with poor language and loss of hand skills Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_5_neuronopathy_distal_hereditary_motor_autosomal_dominant_11_spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia_developmental_delay_with_or_without_epilepsy Developmental and epileptic encephalopathy, 5;Neuronopathy, distal hereditary motor, autosomal dominant 11;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia;Developmental delay with or without epilepsy Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_5_spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia_developmental_delay_with_or_without_epilepsy_neuronopathy_distal_hereditary_motor_autosomal_dominant_11 Developmental and epileptic encephalopathy, 5;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia;Developmental delay with or without epilepsy;Neuronopathy, distal hereditary motor, autosomal dominant 11 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_5_werdnig_hoffmann_disease Developmental and epileptic encephalopathy, 5;Werdnig-Hoffmann disease Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_62_epilepsy_familial_focal_with_variable_foci_4 Developmental and epileptic encephalopathy, 62;Epilepsy, familial focal, with variable foci 4 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_63_4p_partial_monosomy_syndrome Developmental and epileptic encephalopathy, 63;4p partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2 Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2_febrile_seizures_familial_3a_severe_myoclonic_epilepsy_in_infancy Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2;Febrile seizures, familial, 3a;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3_severe_myoclonic_epilepsy_in_infancy Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy_migraine_familial_hemiplegic_3 Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_migraine_familial_hemiplegic_3_generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_migraine_familial_hemiplegic_3_severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2 Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_severe_myoclonic_epilepsy_in_infancy Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2 Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3 Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_6b_severe_myoclonic_epilepsy_in_infancy_migraine_familial_hemiplegic_3_generalized_epilepsy_with_febrile_seizures_plus_type_2 Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy;Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_7_seizures_benign_familial_neonatal_1 Developmental and epileptic encephalopathy, 7;Seizures, benign familial neonatal, 1 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_81_hearing_loss_autosomal_dominant_71_polyendocrine_polyneuropathy_syndrome Developmental and epileptic encephalopathy, 81;Hearing loss, autosomal dominant 71;Polyendocrine-polyneuropathy syndrome Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_81_polyendocrine_polyneuropathy_syndrome_hearing_loss_autosomal_dominant_71 Developmental and epileptic encephalopathy, 81;Polyendocrine-polyneuropathy syndrome;Hearing loss, autosomal dominant 71 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_85_with_or_without_midline_brain_defects Developmental and epileptic encephalopathy, 85, with or without midline brain defects Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_85_with_or_without_midline_brain_defects_congenital_muscular_hypertrophy_cerebral_syndrome Developmental and epileptic encephalopathy, 85, with or without midline brain defects;Congenital muscular hypertrophy-cerebral syndrome Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_91_arthrogryposis_cleft_palate_craniosynostosis_and_impaired_intellectual_development Developmental and epileptic encephalopathy 91;Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_93_autosomal_recessive_cutis_laxa_type_2d Developmental and epileptic encephalopathy 93;Autosomal recessive cutis laxa type 2D Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_99_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_dystonia_12_alternating_hemiplegia_of_childhood_2 Developmental and epileptic encephalopathy 99;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Dystonia 12;Alternating hemiplegia of childhood 2 Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_99_dystonia_12_alternating_hemiplegia_of_childhood_2_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome Developmental and epileptic encephalopathy 99;Dystonia 12;Alternating hemiplegia of childhood 2;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_9_glycine_encephalopathy Developmental and epileptic encephalopathy, 9;Glycine encephalopathy Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_familial_hemiplegic_migraine_generalized_epilepsy_with_febrile_seizures_plus_severe_myoclonic_epilepsy_in_infancy Developmental and epileptic encephalopathy;Familial hemiplegic migraine;Generalized epilepsy with febrile seizures plus;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_west_syndrome Developmental and epileptic encephalopathy;West syndrome Supplemental_disease_name DISEASE_NAME:developmental_and_epileptic_encephalopathy_with_joint_laxity Developmental and Epileptic Encephalopathy with Joint Laxity Supplemental_disease_name DISEASE_NAME:developmental_cataract Developmental cataract Supplemental_disease_name DISEASE_NAME:developmental_cataract_death_in_childhood_developmental_regression_seizure Developmental cataract;Death in childhood;Developmental regression;Seizure Supplemental_disease_name DISEASE_NAME:developmental_cataract_severe_sensorineural_hearing_impairment_neurodevelopmental_delay Developmental cataract;Severe sensorineural hearing impairment;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:developmental_defect_during_embryogenesis Developmental defect during embryogenesis Supplemental_disease_name DISEASE_NAME:developmental_delay Developmental delay Supplemental_disease_name DISEASE_NAME:developmental_delay_and_seizures_with_or_without_movement_abnormalities_retinitis_pigmentosa_59 Developmental delay and seizures with or without movement abnormalities;Retinitis pigmentosa 59 Supplemental_disease_name DISEASE_NAME:developmental_delay_autism_seizure_cerebral_palsy Developmental delay;Autism;Seizure;Cerebral palsy Supplemental_disease_name DISEASE_NAME:developmental_delay_behavioral_abnormalities_and_neuropsychiatric_disorders Developmental delay, behavioral abnormalities, and neuropsychiatric disorders Supplemental_disease_name DISEASE_NAME:developmental_delay_epilepsy_autistic_features Developmental delay;Epilepsy;autistic features Supplemental_disease_name DISEASE_NAME:developmental_delay_epileptic_encephalopathy Developmental delay;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:developmental_delay_hypotonia_musculoskeletal_defects_and_behavioral_abnormalities Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:developmental_delay_hypotonia_musculoskeletal_defects_and_behavioral_abnormalities_floating_harbor_syndrome Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities;Floating-Harbor syndrome Supplemental_disease_name DISEASE_NAME:developmental_delay_impaired_growth_dysmorphic_facies_and_axonal_neuropathy Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy Supplemental_disease_name DISEASE_NAME:developmental_delay_impaired_growth_dysmorphic_facies_and_axonal_neuropathy_charcot_marie_tooth_disease_axonal_type_2z Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy;Charcot-Marie-Tooth disease axonal type 2Z Supplemental_disease_name DISEASE_NAME:developmental_delay_impaired_speech_and_behavioral_abnormalities Developmental delay, impaired speech, and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:developmental_delay_impaired_speech_and_behavioral_abnormalities_developmental_delay_impaired_speech_and_behavioral_abnormalities_with_or_without_seizures Developmental delay, impaired speech, and behavioral abnormalities;Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures Supplemental_disease_name DISEASE_NAME:developmental_delay_impaired_speech_and_behavioral_abnormalities_with_or_without_seizures Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures Supplemental_disease_name DISEASE_NAME:developmental_delay_impaired_speech_behavioral_abnormalities_and_seizures DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES Supplemental_disease_name DISEASE_NAME:developmental_delay_intellectual_disability Developmental delay;Intellectual disability Supplemental_disease_name DISEASE_NAME:developmental_delay_language_impairment_and_ocular_abnormalities Developmental delay, language impairment, and ocular abnormalities Supplemental_disease_name DISEASE_NAME:developmental_delay_macrocephaly Developmental delay;Macrocephaly Supplemental_disease_name DISEASE_NAME:developmental_delay_mild_facial_and_digital_morphological_abnormalities_intellectual_disability Developmental delay;Mild facial and digital morphological abnormalities;Intellectual disability Supplemental_disease_name DISEASE_NAME:developmental_delay_motor_delay_delayed_speech_and_language_development_tall_stature Developmental delay;Motor delay;Delayed speech and language development;Tall stature Supplemental_disease_name DISEASE_NAME:developmental_delay_polymicrogyria Developmental delay;Polymicrogyria Supplemental_disease_name DISEASE_NAME:developmental_delay_refractory_epilepsy Developmental delay;Refractory epilepsy Supplemental_disease_name DISEASE_NAME:developmental_delay_with_absent_seizures developmental delay with absent seizures Supplemental_disease_name DISEASE_NAME:developmental_delay_with_autism_spectrum_disorder_and_gait_instability Developmental delay with autism spectrum disorder and gait instability Supplemental_disease_name DISEASE_NAME:developmental_delay_with_autism_spectrum_disorder_and_gait_instability_prader_willi_syndrome_skin_hair_eye_pigmentation_1_blue_nonblue_eyes Developmental delay with autism spectrum disorder and gait instability;Prader-Willi syndrome;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Supplemental_disease_name DISEASE_NAME:developmental_delay_with_autism_spectrum_disorder_and_gait_instability_skin_hair_eye_pigmentation_1_blue_nonblue_eyes Developmental delay with autism spectrum disorder and gait instability;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Supplemental_disease_name DISEASE_NAME:developmental_delay_with_dysmorphic_facies_and_dental_anomalies Developmental delay with dysmorphic facies and dental anomalies Supplemental_disease_name DISEASE_NAME:developmental_delay_with_dysmorphic_facies_and_dental_anomalies_kohlschutter_tonz_syndrome_like Developmental delay with dysmorphic facies and dental anomalies;Kohlschutter-Tonz syndrome-like Supplemental_disease_name DISEASE_NAME:developmental_delay_with_hypotonia_myopathy_and_brain_abnormalities Developmental delay with hypotonia, myopathy, and brain abnormalities Supplemental_disease_name DISEASE_NAME:developmental_delay_with_intractable_seizures developmental delay with intractable seizures Supplemental_disease_name DISEASE_NAME:developmental_delay_with_or_without_dysmorphic_facies_and_autism Developmental delay with or without dysmorphic facies and autism Supplemental_disease_name DISEASE_NAME:developmental_delay_with_or_without_dysmorphic_facies_and_autism_hearing_loss_autosomal_dominant_75 Developmental delay with or without dysmorphic facies and autism;Hearing loss, autosomal dominant 75 Supplemental_disease_name DISEASE_NAME:developmental_delay_with_or_without_epilepsy Developmental delay with or without epilepsy Supplemental_disease_name DISEASE_NAME:developmental_delay_with_or_without_epilepsy_developmental_and_epileptic_encephalopathy_5 Developmental delay with or without epilepsy;Developmental and epileptic encephalopathy, 5 Supplemental_disease_name DISEASE_NAME:developmental_delay_with_or_without_epilepsy_neuronopathy_distal_hereditary_motor_autosomal_dominant_11 Developmental delay with or without epilepsy;Neuronopathy, distal hereditary motor, autosomal dominant 11 Supplemental_disease_name DISEASE_NAME:developmental_delay_with_or_without_epilepsy_neuronopathy_distal_hereditary_motor_autosomal_dominant_11_spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia_developmental_and_epileptic_encephalopathy_5 Developmental delay with or without epilepsy;Neuronopathy, distal hereditary motor, autosomal dominant 11;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia;Developmental and epileptic encephalopathy, 5 Supplemental_disease_name DISEASE_NAME:developmental_delay_with_or_without_intellectual_impairment_or_behavioral_abnormalities Developmental delay with or without intellectual impairment or behavioral abnormalities Supplemental_disease_name DISEASE_NAME:developmental_delay_with_seizures developmental delay with seizures Supplemental_disease_name DISEASE_NAME:developmental_delay_with_variable_intellectual_disability_and_dysmorphic_facies Developmental delay with variable intellectual disability and dysmorphic facies Supplemental_disease_name DISEASE_NAME:developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities Developmental delay with variable intellectual impairment and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:developmental_delay_with_variable_neurologic_and_brain_abnormalities Developmental delay with variable neurologic and brain abnormalities Supplemental_disease_name DISEASE_NAME:developmental_delay_without_intellectual_impairment_or_behavioral_abnormalities DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES Supplemental_disease_name DISEASE_NAME:developmental_disorder Developmental disorder Supplemental_disease_name DISEASE_NAME:developmental_disorder_sensorineural_hearing_loss_disorder Developmental disorder;Sensorineural hearing loss disorder Supplemental_disease_name DISEASE_NAME:developmental_disorder_with_language_delay_and_congenital_abnormalities Developmental Disorder With Language Delay And Congenital Abnormalities Supplemental_disease_name DISEASE_NAME:developmental_dyslexia Developmental dyslexia Supplemental_disease_name DISEASE_NAME:developmental_dysplasia_of_the_hip_3 Developmental dysplasia of the hip 3 Supplemental_disease_name DISEASE_NAME:developmental_dysplasia_of_the_hip_3_keratosis_pilaris_atrophicans Developmental dysplasia of the hip 3;Keratosis pilaris atrophicans Supplemental_disease_name DISEASE_NAME:developmental_dysplasia_of_the_hip_4 Developmental dysplasia of the hip 4 Supplemental_disease_name DISEASE_NAME:developmental_encephalopathy_with_epilepsy developmental encephalopathy with epilepsy Supplemental_disease_name DISEASE_NAME:developmental_malformations_deafness_dystonia_syndrome Developmental malformations-deafness-dystonia syndrome Supplemental_disease_name DISEASE_NAME:developmental_malformations_deafness_dystonia_syndrome_baraitser_winter_syndrome_1 Developmental malformations-deafness-dystonia syndrome;Baraitser-Winter syndrome 1 Supplemental_disease_name DISEASE_NAME:developmental_regression Developmental regression Supplemental_disease_name DISEASE_NAME:developmental_regression_global_developmental_delay_leukoencephalopathy Developmental regression;Global developmental delay;Leukoencephalopathy Supplemental_disease_name DISEASE_NAME:developmental_regression_severe_muscular_hypotonia_relative_macrocephaly Developmental regression;Severe muscular hypotonia;Relative macrocephaly Supplemental_disease_name DISEASE_NAME:developmental_regression_tremor_delayed_speech_and_language_development_febrile_seizure_within_the_age_range_of_3_months_to_6_years_cerebellar_ataxia Developmental regression;Tremor;Delayed speech and language development;Febrile seizure (within the age range of 3 months to 6 years);Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:dextrocardia_conotruncal_defect Dextrocardia;Conotruncal defect Supplemental_disease_name DISEASE_NAME:dgat1_related_disorder DGAT1-related disorder Supplemental_disease_name DISEASE_NAME:dgat2l6_related_disorder DGAT2L6-related disorder Supplemental_disease_name DISEASE_NAME:dgcr8_related_disorder DGCR8-related disorder Supplemental_disease_name DISEASE_NAME:dgka_related_disorder DGKA-related disorder Supplemental_disease_name DISEASE_NAME:dgkd_related_disorder DGKD-related disorder Supplemental_disease_name DISEASE_NAME:dgke_related_disorder DGKE-related disorder Supplemental_disease_name DISEASE_NAME:dgkq_related_disorder DGKQ-related disorder Supplemental_disease_name DISEASE_NAME:dguok_related_disorder DGUOK-related disorder Supplemental_disease_name DISEASE_NAME:dhcr24_related_disorder DHCR24-related disorder Supplemental_disease_name DISEASE_NAME:dhcr7_related_disorder DHCR7-related disorder Supplemental_disease_name DISEASE_NAME:dhdds_cdg DHDDS-CDG Supplemental_disease_name DISEASE_NAME:dhdds_related_disorder DHDDS-related disorder Supplemental_disease_name DISEASE_NAME:dhfr_related_disorder DHFR-related disorder Supplemental_disease_name DISEASE_NAME:dhh_related_disorder DHH-related disorder Supplemental_disease_name DISEASE_NAME:dhodh_related_disorder DHODH-related disorder Supplemental_disease_name DISEASE_NAME:dhps_related_disorder DHPS-related disorder Supplemental_disease_name DISEASE_NAME:dhrs3_deficiency DHRS3 Deficiency Supplemental_disease_name DISEASE_NAME:dhrs3_related_disorder DHRS3-related disorder Supplemental_disease_name DISEASE_NAME:dhtkd1_related_disorder DHTKD1-related disorder Supplemental_disease_name DISEASE_NAME:dhx16_related_disorder DHX16-related disorder Supplemental_disease_name DISEASE_NAME:dhx30_related_disorder DHX30-related disorder Supplemental_disease_name DISEASE_NAME:dhx34_associated_thromobocytopenia DHX34-associated thromobocytopenia Supplemental_disease_name DISEASE_NAME:dhx34_related_disorder DHX34-related disorder Supplemental_disease_name DISEASE_NAME:dhx34_related_neurodevelopmental_disorder DHX34-related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:dhx36_associated_disorder DHX36-associated disorder Supplemental_disease_name DISEASE_NAME:dhx37_related_disorder DHX37-related disorder Supplemental_disease_name DISEASE_NAME:dhx38_related_disorder DHX38-related disorder Supplemental_disease_name DISEASE_NAME:dhx57_related_disorder DHX57-related disorder Supplemental_disease_name DISEASE_NAME:dhx58_associated_neurodevelopmental_disorder DHX58-associated Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:dhx9_associated_neurodevelopmental_disorder DHX9-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:dhx9_related_disorder DHX9-related disorder Supplemental_disease_name DISEASE_NAME:dhx9_related_neurodevelopmental_disorder DHX9-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:diabetes_deafness_developmental_delay_and_short_stature_syndrome Diabetes, deafness, developmental delay, and short stature syndrome Supplemental_disease_name DISEASE_NAME:diabetes_deafness_syndrome_maternally_transmitted Diabetes-deafness syndrome maternally transmitted Supplemental_disease_name DISEASE_NAME:diabetes_insipidus_nephrogenic_autosomal Diabetes insipidus, nephrogenic, autosomal Supplemental_disease_name DISEASE_NAME:diabetes_insipidus_nephrogenic_x_linked Diabetes insipidus, nephrogenic, X-linked Supplemental_disease_name DISEASE_NAME:diabetes_insipidus_nephrogenic_x_linked_nephrogenic_syndrome_of_inappropriate_antidiuresis Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis Supplemental_disease_name DISEASE_NAME:diabetes_insipidus_neurohypophyseal_autosomal_recessive Diabetes insipidus, neurohypophyseal, autosomal recessive Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_insulin_dependent_susceptibility_to Diabetes mellitus, insulin-dependent, susceptibility to Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_ketosis_prone_maturity_onset_diabetes_of_the_young_type_9_type_2_diabetes_mellitus Diabetes mellitus, ketosis-prone;Maturity-onset diabetes of the young type 9;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_ketosis_prone_susceptibility_to Diabetes mellitus, ketosis-prone, susceptibility to Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_noninsulin_dependent_1 Diabetes mellitus, noninsulin-dependent, 1 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_noninsulin_dependent_5 Diabetes mellitus, noninsulin-dependent, 5 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_noninsulin_dependent_association_with Diabetes mellitus, noninsulin-dependent, association with Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_noninsulin_dependent_maternally_transmitted Diabetes mellitus, noninsulin-dependent, maternally transmitted Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_2 Diabetes mellitus, permanent neonatal 2 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_2_diabetes_mellitus_transient_neonatal_3 Diabetes mellitus, permanent neonatal 2;Diabetes mellitus, transient neonatal, 3 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_2_diabetes_mellitus_transient_neonatal_3_hyperinsulinemic_hypoglycemia_familial_2_type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_13 Diabetes mellitus, permanent neonatal 2;Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_2_diabetes_mellitus_transient_neonatal_3_maturity_onset_diabetes_of_the_young_type_13 Diabetes mellitus, permanent neonatal 2;Diabetes mellitus, transient neonatal, 3;Maturity-onset diabetes of the young type 13 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_2_type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_2_maturity_onset_diabetes_of_the_young_type_13_diabetes_mellitus_transient_neonatal_3 Diabetes mellitus, permanent neonatal 2;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13;Diabetes mellitus, transient neonatal, 3 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_3 Diabetes mellitus, permanent neonatal 3 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_3_diabetes_mellitus_transient_neonatal_2_hyperinsulinemic_hypoglycemia_familial_1_leucine_induced_hypoglycemia_type_2_diabetes_mellitus Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_3_diabetes_mellitus_transient_neonatal_2_type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_1_leucine_induced_hypoglycemia Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_3_hyperinsulinemic_hypoglycemia_familial_1 Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_3_type_2_diabetes_mellitus_leucine_induced_hypoglycemia_hyperinsulinemic_hypoglycemia_familial_1_diabetes_mellitus_transient_neonatal_2 Diabetes mellitus, permanent neonatal 3;Type 2 diabetes mellitus;Leucine-induced hypoglycemia;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, transient neonatal, 2 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_4 Diabetes mellitus, permanent neonatal 4 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_4_hyperproinsulinemia_maturity_onset_diabetes_of_the_young_type_10_type_1_diabetes_mellitus_2 Diabetes mellitus, permanent neonatal 4;Hyperproinsulinemia;Maturity-onset diabetes of the young type 10;Type 1 diabetes mellitus 2 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_4_hyperproinsulinemia_type_1_diabetes_mellitus_2_maturity_onset_diabetes_of_the_young_type_10 Diabetes mellitus, permanent neonatal 4;Hyperproinsulinemia;Type 1 diabetes mellitus 2;Maturity-onset diabetes of the young type 10 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_4_type_1_diabetes_mellitus_2_maturity_onset_diabetes_of_the_young_type_10_hyperproinsulinemia Diabetes mellitus, permanent neonatal 4;Type 1 diabetes mellitus 2;Maturity-onset diabetes of the young type 10;Hyperproinsulinemia Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_1 Diabetes mellitus, transient neonatal, 1 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_2 Diabetes mellitus, transient neonatal, 2 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_2_diabetes_mellitus_permanent_neonatal_3_hyperinsulinemic_hypoglycemia_familial_1_leucine_induced_hypoglycemia_type_2_diabetes_mellitus Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_2_hyperinsulinemic_hypoglycemia_familial_1_leucine_induced_hypoglycemia_diabetes_mellitus_permanent_neonatal_3_type_2_diabetes_mellitus Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_2_hyperinsulinemic_hypoglycemia_familial_1_leucine_induced_hypoglycemia_type_2_diabetes_mellitus_diabetes_mellitus_permanent_neonatal_3 Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 3 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_2_leucine_induced_hypoglycemia_diabetes_mellitus_permanent_neonatal_3_hyperinsulinemic_hypoglycemia_familial_1_type_2_diabetes_mellitus Diabetes mellitus, transient neonatal, 2;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_2_type_2_diabetes_mellitus_diabetes_mellitus_permanent_neonatal_3 Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 3 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3 Diabetes mellitus, transient neonatal, 3 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3_diabetes_mellitus_permanent_neonatal_2_hyperinsulinemic_hypoglycemia_familial_2_maturity_onset_diabetes_of_the_young_type_13 Diabetes mellitus, transient neonatal, 3;Diabetes mellitus, permanent neonatal 2;Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3_diabetes_mellitus_permanent_neonatal_2_hyperinsulinemic_hypoglycemia_familial_2_maturity_onset_diabetes_of_the_young_type_13_type_2_diabetes_mellitus Diabetes mellitus, transient neonatal, 3;Diabetes mellitus, permanent neonatal 2;Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3_hyperinsulinemic_hypoglycemia_familial_2_diabetes_mellitus_permanent_neonatal_2_maturity_onset_diabetes_of_the_young_type_13_type_2_diabetes_mellitus Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, permanent neonatal 2;Maturity-onset diabetes of the young type 13;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3_hyperinsulinemic_hypoglycemia_familial_2_diabetes_mellitus_permanent_neonatal_2_type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_13 Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, permanent neonatal 2;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3_hyperinsulinemic_hypoglycemia_familial_2_permanent_neonatal_diabetes_mellitus_1 Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2;Permanent neonatal diabetes mellitus 1 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3_maturity_onset_diabetes_of_the_young_type_13_hyperinsulinemic_hypoglycemia_familial_2_diabetes_mellitus_permanent_neonatal_2 Diabetes mellitus, transient neonatal, 3;Maturity-onset diabetes of the young type 13;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, permanent neonatal 2 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3_maturity_onset_diabetes_of_the_young_type_13_hyperinsulinemic_hypoglycemia_familial_2_type_2_diabetes_mellitus_diabetes_mellitus_permanent_neonatal_2 Diabetes mellitus, transient neonatal, 3;Maturity-onset diabetes of the young type 13;Hyperinsulinemic hypoglycemia, familial, 2;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 2 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3_permanent_neonatal_diabetes_mellitus_1_hyperinsulinemic_hypoglycemia_familial_2 Diabetes mellitus, transient neonatal, 3;Permanent neonatal diabetes mellitus 1;Hyperinsulinemic hypoglycemia, familial, 2 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_transient_neonatal_3_type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_13_hyperinsulinemic_hypoglycemia_familial_2_diabetes_mellitus_permanent_neonatal_2 Diabetes mellitus, transient neonatal, 3;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, permanent neonatal 2 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_type_1 Diabetes mellitus type 1 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_type_1_charcot_marie_tooth_disease_demyelinating_type_1j Diabetes mellitus type 1;Charcot-Marie-Tooth disease, demyelinating, type 1J Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_type_1_maturity_onset_diabetes_of_the_young_type_3_type_1_diabetes_mellitus_20_type_2_diabetes_mellitus Diabetes mellitus type 1;Maturity-onset diabetes of the young type 3;Type 1 diabetes mellitus 20;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_type_1_susceptibility_to Diabetes mellitus, type 1, susceptibility to Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_type_1_type_1_diabetes_mellitus_20_maturity_onset_diabetes_of_the_young_type_3_type_2_diabetes_mellitus Diabetes mellitus type 1;Type 1 diabetes mellitus 20;Maturity-onset diabetes of the young type 3;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_type_2_susceptibility_to Diabetes mellitus type 2, susceptibility to Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_type_ii_digenic DIABETES MELLITUS, TYPE II, DIGENIC Supplemental_disease_name DISEASE_NAME:diabetic_cardiomyopathy Diabetic cardiomyopathy Supplemental_disease_name DISEASE_NAME:diabetic_kidney_disease Diabetic kidney disease Supplemental_disease_name DISEASE_NAME:diabetic_nephropathy Diabetic nephropathy Supplemental_disease_name DISEASE_NAME:diablo_related_disorder DIABLO-related disorder Supplemental_disease_name DISEASE_NAME:diablo_related_hearing_loss DIABLO-Related Hearing Loss Supplemental_disease_name DISEASE_NAME:diamond_blackfan_anemia_21 Diamond-Blackfan anemia 21 Supplemental_disease_name DISEASE_NAME:diamond_blackfan_anemia_gata_binding_protein_1_related_thrombocytopenia_with_dyserythropoiesis Diamond-Blackfan anemia;GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Supplemental_disease_name DISEASE_NAME:diamond_blackfan_anemia_like Diamond-Blackfan anemia-like Supplemental_disease_name DISEASE_NAME:diaph1_related_disorder DIAPH1-related disorder Supplemental_disease_name DISEASE_NAME:diaph1_related_sensorineural_hearing_loss_thrombocytopenia_syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Supplemental_disease_name DISEASE_NAME:diaph2_related_disorder DIAPH2-related disorder Supplemental_disease_name DISEASE_NAME:diaph3_related_disorder DIAPH3-related disorder Supplemental_disease_name DISEASE_NAME:diaphanospondylodysostosis Diaphanospondylodysostosis Supplemental_disease_name DISEASE_NAME:diaphragmatic_hernia_3 Diaphragmatic hernia 3 Supplemental_disease_name DISEASE_NAME:diaphragmatic_hernia_3_46_xy_sex_reversal_9 Diaphragmatic hernia 3;46,XY sex reversal 9 Supplemental_disease_name DISEASE_NAME:diaphragmatic_hernia_3_46_xy_sex_reversal_9_tetralogy_of_fallot Diaphragmatic hernia 3;46,XY sex reversal 9;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:diaphragmatic_hernia_3_tetralogy_of_fallot_46_xy_sex_reversal_9 Diaphragmatic hernia 3;Tetralogy of Fallot;46,XY sex reversal 9 Supplemental_disease_name DISEASE_NAME:diaphragmatic_hernia_4_with_cardiovascular_defects Diaphragmatic hernia 4, with cardiovascular defects Supplemental_disease_name DISEASE_NAME:diaphyseal_dysplasia_cystic_fibrosis_inflammatory_bowel_disease_immunodeficiency_and_encephalopathy Diaphyseal dysplasia;Cystic fibrosis;Inflammatory bowel disease, immunodeficiency, and encephalopathy Supplemental_disease_name DISEASE_NAME:diaphyseal_dysplasia_inflammatory_bowel_disease_immunodeficiency_and_encephalopathy_cystic_fibrosis Diaphyseal dysplasia;Inflammatory bowel disease, immunodeficiency, and encephalopathy;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:diaphyseal_medullary_stenosis_bone_malignancy_syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Supplemental_disease_name DISEASE_NAME:diarrhea_10_protein_losing_enteropathy_type Diarrhea 10, protein-losing enteropathy type Supplemental_disease_name DISEASE_NAME:diarrhea_11_malabsorptive_congenital Diarrhea 11, malabsorptive, congenital Supplemental_disease_name DISEASE_NAME:diarrhea_12_with_microvillus_atrophy Diarrhea 12, with microvillus atrophy Supplemental_disease_name DISEASE_NAME:diarrhea_13 Diarrhea 13 Supplemental_disease_name DISEASE_NAME:diarrhea_14_congenital Diarrhea 14, congenital Supplemental_disease_name DISEASE_NAME:diarrhea_15_congenital Diarrhea 15, congenital Supplemental_disease_name DISEASE_NAME:diarrhea_2_with_microvillus_atrophy_and_cholestasis DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS Supplemental_disease_name DISEASE_NAME:diarrhea_9 Diarrhea 9 Supplemental_disease_name DISEASE_NAME:dias_logan_syndrome Dias-Logan syndrome Supplemental_disease_name DISEASE_NAME:dias_logan_syndrome_intellectual_disability_autosomal_dominant_45 Dias-Logan syndrome;Intellectual disability, autosomal dominant 45 Supplemental_disease_name DISEASE_NAME:diastolic_dysfunction Diastolic dysfunction Supplemental_disease_name DISEASE_NAME:diastrophic_dysplasia_achondrogenesis_type_ib_atelosteogenesis_type_ii_multiple_epiphyseal_dysplasia_type_4 Diastrophic dysplasia;Achondrogenesis, type IB;Atelosteogenesis type II;Multiple epiphyseal dysplasia type 4 Supplemental_disease_name DISEASE_NAME:diastrophic_dysplasia_achondrogenesis_type_ib_multiple_epiphyseal_dysplasia_type_4_atelosteogenesis_type_ii Diastrophic dysplasia;Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II Supplemental_disease_name DISEASE_NAME:diastrophic_dysplasia_atelosteogenesis_type_ii_multiple_epiphyseal_dysplasia_type_4_achondrogenesis_type_ib Diastrophic dysplasia;Atelosteogenesis type II;Multiple epiphyseal dysplasia type 4;Achondrogenesis, type IB Supplemental_disease_name DISEASE_NAME:diastrophic_dysplasia_broad_bone_platyspondylic_variant DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT Supplemental_disease_name DISEASE_NAME:diastrophic_dysplasia_multiple_epiphyseal_dysplasia_type_4_achondrogenesis_type_ib_atelosteogenesis_type_ii Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4;Achondrogenesis, type IB;Atelosteogenesis type II Supplemental_disease_name DISEASE_NAME:diastrophic_dysplasia_multiple_epiphyseal_dysplasia_type_4_atelosteogenesis_type_ii_achondrogenesis_type_ib Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II;Achondrogenesis, type IB Supplemental_disease_name DISEASE_NAME:dicarboxylic_aminoaciduria_schizophrenia_18 Dicarboxylic aminoaciduria;Schizophrenia 18 Supplemental_disease_name DISEASE_NAME:dicer1_related_disorder DICER1-related disorder Supplemental_disease_name DISEASE_NAME:dicer1_related_pleuropulmonary_blastoma_cancer_predisposition_syndrome Dicer1-related pleuropulmonary blastoma cancer predisposition syndrome Supplemental_disease_name DISEASE_NAME:dicer1_related_tumor_predisposition DICER1-related tumor predisposition Supplemental_disease_name DISEASE_NAME:dicer1_related_tumor_predisposition_euthyroid_goiter_rhabdomyosarcoma_embryonal_2 DICER1-related tumor predisposition;Euthyroid goiter;Rhabdomyosarcoma, embryonal, 2 Supplemental_disease_name DISEASE_NAME:dicer1_related_tumor_predisposition_rhabdomyosarcoma_embryonal_2_euthyroid_goiter DICER1-related tumor predisposition;Rhabdomyosarcoma, embryonal, 2;Euthyroid goiter Supplemental_disease_name DISEASE_NAME:diego_blood_group_antigen DIEGO BLOOD GROUP ANTIGEN Supplemental_disease_name DISEASE_NAME:diencephalic_mesencephalic_junction_dysplasia Diencephalic-mesencephalic junction dysplasia Supplemental_disease_name DISEASE_NAME:diencephalic_mesencephalic_junction_dysplasia_syndrome_1 Diencephalic-mesencephalic junction dysplasia syndrome 1 Supplemental_disease_name DISEASE_NAME:diencephalic_mesencephalic_junction_dysplasia_syndrome_2 Diencephalic-mesencephalic junction dysplasia syndrome 2 Supplemental_disease_name DISEASE_NAME:diets_jongmans_syndrome Diets-Jongmans syndrome Supplemental_disease_name DISEASE_NAME:differences_in_sex_development Differences in sex development Supplemental_disease_name DISEASE_NAME:difficulty_walking_prolonged_neonatal_jaundice_severe_intellectual_disability_aggressive_behavior_frequent_falls Difficulty walking;Prolonged neonatal jaundice;Severe intellectual disability;Aggressive behavior;Frequent falls Supplemental_disease_name DISEASE_NAME:diffuse_cerebral_and_cerebellar_atrophy_intractable_seizures_progressive_microcephaly_syndrome Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Supplemental_disease_name DISEASE_NAME:diffuse_gastric_and_lobular_breast_cancer_syndrome_with_cleft_lip_and_with_or_without_cleft_palate Diffuse gastric and lobular breast cancer syndrome with cleft lip and with or without cleft palate Supplemental_disease_name DISEASE_NAME:diffuse_hemispheric_glioma_h3_g34_mutant Diffuse hemispheric glioma, H3 G34-mutant Supplemental_disease_name DISEASE_NAME:diffuse_interstitial_pulmonary_fibrosis_primary_interstitial_lung_disease_specific_to_childhood_due_to_pulmonary_surfactant_protein_anomalies Diffuse interstitial pulmonary fibrosis;Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Supplemental_disease_name DISEASE_NAME:diffuse_large_cell_lymphoma diffuse large cell lymphoma Supplemental_disease_name DISEASE_NAME:diffuse_lymphatic_malformation Diffuse lymphatic malformation Supplemental_disease_name DISEASE_NAME:diffuse_mesangial_sclerosis Diffuse mesangial sclerosis Supplemental_disease_name DISEASE_NAME:diffuse_nonepidermolytic_palmoplantar_keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Supplemental_disease_name DISEASE_NAME:digeorge_syndrome_conotruncal_heart_malformations_tetralogy_of_fallot_velocardiofacial_syndrome DiGeorge syndrome;Conotruncal heart malformations;Tetralogy of Fallot;Velocardiofacial syndrome Supplemental_disease_name DISEASE_NAME:digeorge_syndrome_conotruncal_heart_malformations_velocardiofacial_syndrome_tetralogy_of_fallot DiGeorge syndrome;Conotruncal heart malformations;Velocardiofacial syndrome;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:digeorge_syndrome_tetralogy_of_fallot_conotruncal_heart_malformations_velocardiofacial_syndrome DiGeorge syndrome;Tetralogy of Fallot;Conotruncal heart malformations;Velocardiofacial syndrome Supplemental_disease_name DISEASE_NAME:digeorge_syndrome_tetralogy_of_fallot_velocardiofacial_syndrome DiGeorge syndrome;Tetralogy of Fallot;Velocardiofacial syndrome Supplemental_disease_name DISEASE_NAME:digeorge_syndrome_velocardiofacial_syndrome DiGeorge syndrome;Velocardiofacial syndrome Supplemental_disease_name DISEASE_NAME:digeorge_syndrome_velocardiofacial_syndrome_tetralogy_of_fallot_conotruncal_heart_malformations DiGeorge syndrome;Velocardiofacial syndrome;Tetralogy of Fallot;Conotruncal heart malformations Supplemental_disease_name DISEASE_NAME:digital_clubbing Digital clubbing Supplemental_disease_name DISEASE_NAME:dihydrolipoamide_dehydrogenase_deficiency Dihydrolipoamide dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:dihydropteridine_reductase_deficiency Dihydropteridine reductase deficiency Supplemental_disease_name DISEASE_NAME:dilatation_of_aorta Dilatation of aorta Supplemental_disease_name DISEASE_NAME:dilatation_of_aorta_ascending_aortic_dissection_polycystic_liver_disease_1_aortic_dissection Dilatation of aorta;Ascending aortic dissection;Polycystic liver disease 1;Aortic dissection Supplemental_disease_name DISEASE_NAME:dilatation_of_aorta_pes_planus_scoliosis Dilatation of aorta;Pes planus;Scoliosis Supplemental_disease_name DISEASE_NAME:dilated_and_arrhythmogenic_cardiomyopathy Dilated and arrhythmogenic cardiomyopathy Supplemental_disease_name DISEASE_NAME:dilated_aortic_root Dilated aortic root Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1a_emery_dreifuss_muscular_dystrophy_2_autosomal_dominant Dilated cardiomyopathy 1A;Emery-Dreifuss muscular dystrophy 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1a_emery_dreifuss_muscular_dystrophy_2_autosomal_dominant_congenital_muscular_dystrophy_due_to_lmna_mutation Dilated cardiomyopathy 1A;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Congenital muscular dystrophy due to LMNA mutation Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1a_hypertrophic_cardiomyopathy_4 Dilated cardiomyopathy 1A;Hypertrophic cardiomyopathy 4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1a_laminopathy Dilated cardiomyopathy 1A;Laminopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1a_restrictive_dermopathy_2 Dilated cardiomyopathy 1A;Restrictive dermopathy 2 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1aa_myopathy_congenital_with_structured_cores_and_z_line_abnormalities_myopathy_distal_6_adult_onset_autosomal_dominant Dilated cardiomyopathy 1AA;Myopathy, congenital, with structured cores and z-line abnormalities;Myopathy, distal, 6, adult-onset, autosomal dominant Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1aa_myopathy_distal_6_adult_onset_autosomal_dominant_myopathy_congenital_with_structured_cores_and_z_line_abnormalities Dilated cardiomyopathy 1AA;Myopathy, distal, 6, adult-onset, autosomal dominant;Myopathy, congenital, with structured cores and z-line abnormalities Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1aa_primary_familial_hypertrophic_cardiomyopathy Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1bb_arrhythmogenic_right_ventricular_dysplasia_10 Dilated cardiomyopathy 1BB;Arrhythmogenic right ventricular dysplasia 10 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1c_myofibrillar_myopathy_4 Dilated cardiomyopathy 1C;Myofibrillar myopathy 4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1cc_hypertrophic_cardiomyopathy_20 Dilated cardiomyopathy 1CC;Hypertrophic cardiomyopathy 20 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1d_cardiomyopathy_familial_restrictive_3_hypertrophic_cardiomyopathy_2 Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1d_hypertrophic_cardiomyopathy_2 Dilated cardiomyopathy 1D;Hypertrophic cardiomyopathy 2 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1d_hypertrophic_cardiomyopathy_2_cardiomyopathy_familial_restrictive_3 Dilated cardiomyopathy 1D;Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1e_brugada_syndrome_1 Dilated cardiomyopathy 1E;Brugada syndrome 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1e_brugada_syndrome_1_long_qt_syndrome_3 Dilated cardiomyopathy 1E;Brugada syndrome 1;Long QT syndrome 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1e_brugada_syndrome_1_progressive_familial_heart_block_type_1a_atrial_fibrillation_familial_10_long_qt_syndrome_3 Dilated cardiomyopathy 1E;Brugada syndrome 1;Progressive familial heart block, type 1A;Atrial fibrillation, familial, 10;Long QT syndrome 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1e_long_qt_syndrome_3 Dilated cardiomyopathy 1E;Long QT syndrome 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1e_long_qt_syndrome_3_brugada_syndrome_1_sick_sinus_syndrome_1_sudden_infant_death_syndrome Dilated cardiomyopathy 1E;Long QT syndrome 3;Brugada syndrome 1;Sick sinus syndrome 1;SUDDEN INFANT DEATH SYNDROME Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14 Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3 Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3_hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3;Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1 Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3 Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3 Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3_hypertrophic_cardiomyopathy_1 Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1_atrial_septal_defect_3 Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_1_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_14 Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 1;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_1_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3 Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1 Dilated cardiomyopathy 1EE;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_14 Dilated cardiomyopathy 1EE;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ee_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3 Dilated cardiomyopathy 1EE;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy 14;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ff_cardiomyopathy_familial_restrictive_1_dilated_cardiomyopathy_2a_hypertrophic_cardiomyopathy_7 Dilated cardiomyopathy 1FF;Cardiomyopathy, familial restrictive, 1;Dilated cardiomyopathy 2A;Hypertrophic cardiomyopathy 7 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ff_cardiomyopathy_familial_restrictive_1_hypertrophic_cardiomyopathy_7 Dilated cardiomyopathy 1FF;Cardiomyopathy, familial restrictive, 1;Hypertrophic cardiomyopathy 7 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ff_cardiomyopathy_familial_restrictive_1_hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_2a Dilated cardiomyopathy 1FF;Cardiomyopathy, familial restrictive, 1;Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 2A Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ff_dilated_cardiomyopathy_2a_cardiomyopathy_familial_restrictive_1_hypertrophic_cardiomyopathy_7 Dilated cardiomyopathy 1FF;Dilated cardiomyopathy 2A;Cardiomyopathy, familial restrictive, 1;Hypertrophic cardiomyopathy 7 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ff_dilated_cardiomyopathy_2a_hypertrophic_cardiomyopathy_7_cardiomyopathy_familial_restrictive_1 Dilated cardiomyopathy 1FF;Dilated cardiomyopathy 2A;Hypertrophic cardiomyopathy 7;Cardiomyopathy, familial restrictive, 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ff_hypertrophic_cardiomyopathy_7_cardiomyopathy_familial_restrictive_1_dilated_cardiomyopathy_2a Dilated cardiomyopathy 1FF;Hypertrophic cardiomyopathy 7;Cardiomyopathy, familial restrictive, 1;Dilated cardiomyopathy 2A Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ff_hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_2a_cardiomyopathy_familial_restrictive_1 Dilated cardiomyopathy 1FF;Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 2A;Cardiomyopathy, familial restrictive, 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_early_onset_myopathy_with_fatal_cardiomyopathy_hypertrophic_cardiomyopathy_9 Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J;Early-onset myopathy with fatal cardiomyopathy;Hypertrophic cardiomyopathy 9 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_hypertrophic_cardiomyopathy_9 Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J;Hypertrophic cardiomyopathy 9 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_early_onset_myopathy_with_fatal_cardiomyopathy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure Dilated cardiomyopathy 1G;Early-onset myopathy with fatal cardiomyopathy;Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_early_onset_myopathy_with_fatal_cardiomyopathy_hypertrophic_cardiomyopathy_9 Dilated cardiomyopathy 1G;Early-onset myopathy with fatal cardiomyopathy;Hypertrophic cardiomyopathy 9 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_early_onset_myopathy_with_fatal_cardiomyopathy_myopathy_myofibrillar_9_with_early_respiratory_failure_hypertrophic_cardiomyopathy_9 Dilated cardiomyopathy 1G;Early-onset myopathy with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Hypertrophic cardiomyopathy 9 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_hypertrophic_cardiomyopathy_9 Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy 9 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_hypertrophic_cardiomyopathy_9_early_onset_myopathy_with_fatal_cardiomyopathy Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy 9;Early-onset myopathy with fatal cardiomyopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_myopathy_myofibrillar_9_with_early_respiratory_failure_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_early_onset_myopathy_with_fatal_cardiomyopathy Dilated cardiomyopathy 1G;Myopathy, myofibrillar, 9, with early respiratory failure;Autosomal recessive limb-girdle muscular dystrophy type 2J;Early-onset myopathy with fatal cardiomyopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_myopathy_myofibrillar_9_with_early_respiratory_failure_tibial_muscular_dystrophy_hypertrophic_cardiomyopathy_9 Dilated cardiomyopathy 1G;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;Hypertrophic cardiomyopathy 9 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_tibial_muscular_dystrophy_hypertrophic_cardiomyopathy_9_myopathy_myofibrillar_9_with_early_respiratory_failure Dilated cardiomyopathy 1G;Tibial muscular dystrophy;Hypertrophic cardiomyopathy 9;Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1g_ttn_related_myopathy Dilated cardiomyopathy 1G;TTN-related myopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1gg_leigh_syndrome_mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5 Dilated cardiomyopathy 1GG;Leigh syndrome;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1gg_mitochondrial_complex_ii_deficiency_nuclear_type_1 Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1gg_mitochondrial_complex_ii_deficiency_nuclear_type_1_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_pheochromocytoma_paraganglioma_syndrome_5 Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1;Neurodegeneration with ataxia and late-onset optic atrophy;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1gg_mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5_leigh_syndrome Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5;Leigh syndrome Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1gg_mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5;Neurodegeneration with ataxia and late-onset optic atrophy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1gg_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5 Dilated cardiomyopathy 1GG;Neurodegeneration with ataxia and late-onset optic atrophy;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1gg_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_pheochromocytoma_paraganglioma_syndrome_5_mitochondrial_complex_ii_deficiency_nuclear_type_1 Dilated cardiomyopathy 1GG;Neurodegeneration with ataxia and late-onset optic atrophy;Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5_mitochondrial_complex_ii_deficiency_nuclear_type_1_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1;Neurodegeneration with ataxia and late-onset optic atrophy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_mitochondrial_complex_ii_deficiency_nuclear_type_1 Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5;Neurodegeneration with ataxia and late-onset optic atrophy;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1hh_myofibrillar_myopathy_6 Dilated cardiomyopathy 1HH;Myofibrillar myopathy 6 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1i_desmin_related_myofibrillar_myopathy Dilated cardiomyopathy 1I;Desmin-related myofibrillar myopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1i_desmin_related_myofibrillar_myopathy_neurogenic_scapuloperoneal_syndrome_kaeser_type Dilated cardiomyopathy 1I;Desmin-related myofibrillar myopathy;Neurogenic scapuloperoneal syndrome, Kaeser type Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1i_neurogenic_scapuloperoneal_syndrome_kaeser_type_desmin_related_myofibrillar_myopathy Dilated cardiomyopathy 1I;Neurogenic scapuloperoneal syndrome, Kaeser type;Desmin-related myofibrillar myopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1ii_cataract_16_multiple_types_fatal_infantile_hypertonic_myofibrillar_myopathy_myofibrillar_myopathy_2 Dilated cardiomyopathy 1II;Cataract 16 multiple types;Fatal infantile hypertonic myofibrillar myopathy;Myofibrillar myopathy 2 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1j_autosomal_dominant_nonsyndromic_hearing_loss_10 Dilated cardiomyopathy 1J;Autosomal dominant nonsyndromic hearing loss 10 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1kk_mypn_related_myopathy Dilated cardiomyopathy 1KK;MYPN-related myopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1l_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2f Dilated cardiomyopathy 1L;Autosomal recessive limb-girdle muscular dystrophy type 2F Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1m_hypertrophic_cardiomyopathy_12 Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1nn_leopard_syndrome_2_noonan_syndrome_5 Dilated cardiomyopathy 1NN;LEOPARD syndrome 2;Noonan syndrome 5 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1nn_noonan_syndrome_5_leopard_syndrome_2 Dilated cardiomyopathy 1NN;Noonan syndrome 5;LEOPARD syndrome 2 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1o_atrial_fibrillation_familial_12 Dilated cardiomyopathy 1O;Atrial fibrillation, familial, 12 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1o_atrial_fibrillation_familial_12_hypertrichotic_osteochondrodysplasia_cantu_type Dilated cardiomyopathy 1O;Atrial fibrillation, familial, 12;Hypertrichotic osteochondrodysplasia Cantu type Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1o_atrial_fibrillation_familial_12_hypertrichotic_osteochondrodysplasia_cantu_type_intellectual_disability_and_myopathy_syndrome Dilated cardiomyopathy 1O;Atrial fibrillation, familial, 12;Hypertrichotic osteochondrodysplasia Cantu type;Intellectual disability and myopathy syndrome Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1o_atrial_fibrillation_familial_12_intellectual_disability_and_myopathy_syndrome_hypertrichotic_osteochondrodysplasia_cantu_type Dilated cardiomyopathy 1O;Atrial fibrillation, familial, 12;Intellectual disability and myopathy syndrome;Hypertrichotic osteochondrodysplasia Cantu type Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1o_hypertrichotic_osteochondrodysplasia_cantu_type_atrial_fibrillation_familial_12_intellectual_disability_and_myopathy_syndrome Dilated cardiomyopathy 1O;Hypertrichotic osteochondrodysplasia Cantu type;Atrial fibrillation, familial, 12;Intellectual disability and myopathy syndrome Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1o_intellectual_disability_and_myopathy_syndrome_atrial_fibrillation_familial_12_hypertrichotic_osteochondrodysplasia_cantu_type Dilated cardiomyopathy 1O;Intellectual disability and myopathy syndrome;Atrial fibrillation, familial, 12;Hypertrichotic osteochondrodysplasia Cantu type Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1o_intellectual_disability_and_myopathy_syndrome_hypertrichotic_osteochondrodysplasia_cantu_type_atrial_fibrillation_familial_12 Dilated cardiomyopathy 1O;Intellectual disability and myopathy syndrome;Hypertrichotic osteochondrodysplasia Cantu type;Atrial fibrillation, familial, 12 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1p_hypertrophic_cardiomyopathy_18 Dilated cardiomyopathy 1P;Hypertrophic cardiomyopathy 18 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1r_atrial_septal_defect_5_hypertrophic_cardiomyopathy_11 Dilated cardiomyopathy 1R;Atrial septal defect 5;Hypertrophic cardiomyopathy 11 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1r_hypertrophic_cardiomyopathy_11_atrial_septal_defect_5 Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11;Atrial septal defect 5 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1r_hypertrophic_cardiomyopathy_11_atrial_septal_defect_5_left_ventricular_noncompaction_4 Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11;Atrial septal defect 5;Left ventricular noncompaction 4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1s_hypertrophic_cardiomyopathy_1 Dilated cardiomyopathy 1S;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy_hypertrophic_cardiomyopathy_1_myopathy_myosin_storage_autosomal_recessive_myosin_storage_myopathy Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy;Hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy_hypertrophic_cardiomyopathy_1_myosin_storage_myopathy Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy;Hypertrophic cardiomyopathy 1;Myosin storage myopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy_myopathy_myosin_storage_autosomal_recessive_myosin_storage_myopathy Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1s_myosin_storage_myopathy_myh7_related_skeletal_myopathy_myopathy_myosin_storage_autosomal_recessive Dilated cardiomyopathy 1S;Myosin storage myopathy;MYH7-related skeletal myopathy;Myopathy, myosin storage, autosomal recessive Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1u_frontotemporal_dementia_acne_inversa_familial_3_pick_disease_alzheimer_disease_3 Dilated cardiomyopathy 1U;Frontotemporal dementia;Acne inversa, familial, 3;Pick disease;Alzheimer disease 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1v_alzheimer_disease_4 Dilated cardiomyopathy 1V;Alzheimer disease 4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1w_hypertrophic_cardiomyopathy_15 Dilated cardiomyopathy 1W;Hypertrophic cardiomyopathy 15 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4 Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4 Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4 Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1y_hypertrophic_cardiomyopathy_3 Dilated cardiomyopathy 1Y;Hypertrophic cardiomyopathy 3 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_1z_hypertrophic_cardiomyopathy_13 Dilated cardiomyopathy 1Z;Hypertrophic cardiomyopathy 13 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_2a_cardiomyopathy_familial_restrictive_1_dilated_cardiomyopathy_1ff_hypertrophic_cardiomyopathy_7 Dilated cardiomyopathy 2A;Cardiomyopathy, familial restrictive, 1;Dilated cardiomyopathy 1FF;Hypertrophic cardiomyopathy 7 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_2a_cardiomyopathy_familial_restrictive_1_hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_1ff Dilated cardiomyopathy 2A;Cardiomyopathy, familial restrictive, 1;Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 1FF Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_2a_dilated_cardiomyopathy_1ff Dilated cardiomyopathy 2A;Dilated cardiomyopathy 1FF Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_2a_hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_1ff_cardiomyopathy_familial_restrictive_1 Dilated cardiomyopathy 2A;Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 1FF;Cardiomyopathy, familial restrictive, 1 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_3b_becker_muscular_dystrophy_duchenne_muscular_dystrophy Dilated cardiomyopathy 3B;Becker muscular dystrophy;Duchenne muscular dystrophy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_3b_duchenne_muscular_dystrophy_becker_muscular_dystrophy Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_dominant Dilated Cardiomyopathy, Dominant Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_dominant_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5 Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_dominant_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26 Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_dominant_hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5 Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_dominant_hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_dominant_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26 Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_dominant_myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_dominant_not_specified Dilated Cardiomyopathy, Dominant;not specified Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_hypergonadotropic_hypogonadism_syndrome_dilated_cardiomyopathy_1a_emery_dreifuss_muscular_dystrophy_2_autosomal_dominant_heart_hand_syndrome_slovenian_type_familial_partial_lipodystrophy_dunnigan_type Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome;Dilated cardiomyopathy 1A;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Heart-hand syndrome, Slovenian type;Familial partial lipodystrophy, Dunnigan type Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_recessive Dilated Cardiomyopathy, Recessive Supplemental_disease_name DISEASE_NAME:dilated_cardiomyopathy_with_left_ventricular_noncompaction Dilated cardiomyopathy with left ventricular noncompaction Supplemental_disease_name DISEASE_NAME:dip2a_related_disorder DIP2A-related disorder Supplemental_disease_name DISEASE_NAME:dip2b_related_disorder DIP2B-related disorder Supplemental_disease_name DISEASE_NAME:dip2c_associated_disorder DIP2C-associated disorder Supplemental_disease_name DISEASE_NAME:dip2c_related_developmental_disorder_with_speech_delay DIP2C-related developmental disorder with speech delay Supplemental_disease_name DISEASE_NAME:dip2c_related_disorder DIP2C-related disorder Supplemental_disease_name DISEASE_NAME:dip2c_related_neurodevelopmental_disorder DIP2C-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:dipk2b_related_disorder DIPK2B-related disorder Supplemental_disease_name DISEASE_NAME:diras3_related_disorder DIRAS3-related disorder Supplemental_disease_name DISEASE_NAME:dis3_related_disorder DIS3-related disorder Supplemental_disease_name DISEASE_NAME:dis3l2_related_disorder DIS3L2-related disorder Supplemental_disease_name DISEASE_NAME:disc1_related_disorder DISC1-related disorder Supplemental_disease_name DISEASE_NAME:discoid_lupus_erythematosus Discoid lupus erythematosus Supplemental_disease_name DISEASE_NAME:disease_of_glomerular_basement_membrane Disease of glomerular basement membrane Supplemental_disease_name DISEASE_NAME:disorder_of_bone Disorder of bone Supplemental_disease_name DISEASE_NAME:disorder_of_cardiovascular_system Disorder of cardiovascular system Supplemental_disease_name DISEASE_NAME:disorder_of_development_or_morphogenesis Disorder of development or morphogenesis Supplemental_disease_name DISEASE_NAME:disorder_of_eye Disorder of eye Supplemental_disease_name DISEASE_NAME:disorder_of_gnas_inactivation Disorder of GNAS inactivation Supplemental_disease_name DISEASE_NAME:disorder_of_lung Disorder of lung Supplemental_disease_name DISEASE_NAME:disorder_of_sexual_differentiation Disorder of sexual differentiation Supplemental_disease_name DISEASE_NAME:disordered_steroidogenesis_due_to_cytochrome_p450_oxidoreductase_deficiency Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency Supplemental_disease_name DISEASE_NAME:disorders_of_gnas_inactivation Disorders of GNAS Inactivation Supplemental_disease_name DISEASE_NAME:disorders_of_intracellular_cobalamin_metabolism Disorders of intracellular cobalamin metabolism Supplemental_disease_name DISEASE_NAME:disp1_related_disorder DISP1-related disorder Supplemental_disease_name DISEASE_NAME:disp1_related_holoprosencephaly DISP1-related Holoprosencephaly Supplemental_disease_name DISEASE_NAME:disp3_related_disorder DISP3-related disorder Supplemental_disease_name DISEASE_NAME:disproportionate_short_limb_short_stature_narrow_chest Disproportionate short-limb short stature;Narrow chest Supplemental_disease_name DISEASE_NAME:disproportionate_short_stature Disproportionate short stature Supplemental_disease_name DISEASE_NAME:disproportionate_tall_stature Disproportionate tall stature Supplemental_disease_name DISEASE_NAME:disproportionate_tall_stature_abnormal_cardiovascular_system_morphology_cataract Disproportionate tall stature;Abnormal cardiovascular system morphology;Cataract Supplemental_disease_name DISEASE_NAME:disrupted_sleep_wake_cycle_with_developmental_delay_and_learning_difficulty Disrupted sleep-wake cycle with developmental delay and learning difficulty Supplemental_disease_name DISEASE_NAME:disseminated_atypical_mycobacterial_infection Disseminated atypical mycobacterial infection Supplemental_disease_name DISEASE_NAME:distal_17p13_3_microdeletion_syndrome Distal 17p13.3 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:distal_7q11_23_microdeletion_syndrome Distal 7q11.23 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:distal_amyotrophy Distal amyotrophy Supplemental_disease_name DISEASE_NAME:distal_arthrogryposis_and_cns_involvement Distal arthrogryposis and CNS involvement Supplemental_disease_name DISEASE_NAME:distal_hereditary_motor_neuronopathy Distal hereditary motor neuronopathy Supplemental_disease_name DISEASE_NAME:distal_hereditary_motor_neuropathy_associated_with_upper_motor_neuron_signs Distal hereditary motor neuropathy associated with upper motor neuron signs Supplemental_disease_name DISEASE_NAME:distal_hereditary_motor_neuropathy_type_2 Distal hereditary motor neuropathy type 2 Supplemental_disease_name DISEASE_NAME:distal_lower_limb_amyotrophy_distal_muscle_weakness_pes_cavus_decreased_nerve_conduction_velocity_sensory_neuropathy Distal lower limb amyotrophy;Distal muscle weakness;Pes cavus;Decreased nerve conduction velocity;Sensory neuropathy Supplemental_disease_name DISEASE_NAME:distal_lower_limb_muscle_weakness Distal lower limb muscle weakness Supplemental_disease_name DISEASE_NAME:distal_lower_limb_muscle_weakness_peripheral_neuropathy_pes_cavus Distal lower limb muscle weakness;Peripheral neuropathy;Pes cavus Supplemental_disease_name DISEASE_NAME:distal_monosomy_10p Distal monosomy 10p Supplemental_disease_name DISEASE_NAME:distal_monosomy_13q Distal monosomy 13q Supplemental_disease_name DISEASE_NAME:distal_muscle_weakness Distal muscle weakness Supplemental_disease_name DISEASE_NAME:distal_muscle_weakness_elevated_circulating_creatine_kinase_activity_fatty_replacement_of_skeletal_muscle Distal muscle weakness;Elevated circulating creatine kinase activity;Fatty replacement of skeletal muscle Supplemental_disease_name DISEASE_NAME:distal_myopathy_tateyama_type_elevated_circulating_creatine_kinase_activity_hypertrophic_cardiomyopathy_1_rippling_muscle_disease_2_long_qt_syndrome_9 Distal myopathy, Tateyama type;Elevated circulating creatine kinase activity;Hypertrophic cardiomyopathy 1;Rippling muscle disease 2;Long QT syndrome 9 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_anterior_tibial_onset_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_miyoshi_muscular_dystrophy_1 Distal myopathy with anterior tibial onset;Autosomal recessive limb-girdle muscular dystrophy type 2B;Miyoshi muscular dystrophy 1 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_anterior_tibial_onset_miyoshi_muscular_dystrophy_1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b Distal myopathy with anterior tibial onset;Miyoshi muscular dystrophy 1;Autosomal recessive limb-girdle muscular dystrophy type 2B Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_anterior_tibial_onset_miyoshi_muscular_dystrophy_1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_dysferlin Distal myopathy with anterior tibial onset;Miyoshi muscular dystrophy 1;Autosomal recessive limb-girdle muscular dystrophy type 2B;Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_dilated_cardiomyopathy_dominant_hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5 Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_dilated_cardiomyopathy_dominant_myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26 Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26_dilated_cardiomyopathy_dominant_myofibrillar_myopathy_5 Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5 Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5_not_provided Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;not provided Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26_not_provided_myofibrillar_myopathy_5 Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;not provided;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5 Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5_dilated_cardiomyopathy_dominant_hypertrophic_cardiomyopathy_26 Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26 Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_dilated_cardiomyopathy_dominant Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_not_provided Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;not provided Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5_not_provided_hypertrophic_cardiomyopathy_26 Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;not provided;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5_primary_familial_hypertrophic_cardiomyopathy Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Primary familial hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_not_provided_hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5 Distal myopathy with posterior leg and anterior hand involvement;not provided;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_not_provided_myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26 Distal myopathy with posterior leg and anterior hand involvement;not provided;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:distal_myopathy_with_vocal_cord_weakness Distal myopathy with vocal cord weakness Supplemental_disease_name DISEASE_NAME:distal_renal_tubular_acidosis Distal renal tubular acidosis Supplemental_disease_name DISEASE_NAME:distal_renal_tubular_acidosis_recessive Distal Renal Tubular Acidosis, Recessive Supplemental_disease_name DISEASE_NAME:distal_shortening_of_limbs Distal shortening of limbs Supplemental_disease_name DISEASE_NAME:distal_spinal_muscular_atrophy Distal spinal muscular atrophy Supplemental_disease_name DISEASE_NAME:distal_symphalangism Distal symphalangism Supplemental_disease_name DISEASE_NAME:distal_tetrasomy_15q Distal tetrasomy 15q Supplemental_disease_name DISEASE_NAME:distal_trisomy_10q Distal trisomy 10q Supplemental_disease_name DISEASE_NAME:distal_trisomy_11q Distal trisomy 11q Supplemental_disease_name DISEASE_NAME:distal_trisomy_1p36 Distal trisomy 1p36 Supplemental_disease_name DISEASE_NAME:distal_trisomy_8q Distal trisomy 8q Supplemental_disease_name DISEASE_NAME:distichiasis_lymphedema_syndrome Distichiasis-lymphedema syndrome Supplemental_disease_name DISEASE_NAME:distinct_bent_bone_dysplasia distinct bent bone dysplasia Supplemental_disease_name DISEASE_NAME:dizygotic_twins Dizygotic twins Supplemental_disease_name DISEASE_NAME:dk1_congenital_disorder_of_glycosylation DK1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:dkc1_related_disorder DKC1-related disorder Supplemental_disease_name DISEASE_NAME:dkk1_related_disorder DKK1-related disorder Supplemental_disease_name DISEASE_NAME:dlat_related_disorder DLAT-related disorder Supplemental_disease_name DISEASE_NAME:dlc1_related_disorder DLC1-related disorder Supplemental_disease_name DISEASE_NAME:dld_related_disorder DLD-related disorder Supplemental_disease_name DISEASE_NAME:dlg1_related_disorder DLG1-related disorder Supplemental_disease_name DISEASE_NAME:dlg2_related_disorder DLG2-related disorder Supplemental_disease_name DISEASE_NAME:dlg3_related_disorder DLG3-related disorder Supplemental_disease_name DISEASE_NAME:dlg4_related_disorder DLG4-related disorder Supplemental_disease_name DISEASE_NAME:dlg4_related_synaptopathy DLG4-Related Synaptopathy Supplemental_disease_name DISEASE_NAME:dlg5_related_disorder DLG5-related disorder Supplemental_disease_name DISEASE_NAME:dlgap1_related_disorder DLGAP1-related disorder Supplemental_disease_name DISEASE_NAME:dlgap2_related_disorder DLGAP2-related disorder Supplemental_disease_name DISEASE_NAME:dlk1_related_disorder DLK1-related disorder Supplemental_disease_name DISEASE_NAME:dll1_related_disorder DLL1-related disorder Supplemental_disease_name DISEASE_NAME:dll3_related_disorder DLL3-related disorder Supplemental_disease_name DISEASE_NAME:dll4_related_disorder DLL4-related disorder Supplemental_disease_name DISEASE_NAME:dlst_related_disorder DLST-related disorder Supplemental_disease_name DISEASE_NAME:dlx3_related_disorder DLX3-related disorder Supplemental_disease_name DISEASE_NAME:dlx4_related_disorder DLX4-related disorder Supplemental_disease_name DISEASE_NAME:dlx5_related_disorder DLX5-related disorder Supplemental_disease_name DISEASE_NAME:dlx6_related_disorder DLX6-related disorder Supplemental_disease_name DISEASE_NAME:dmap1_associated_disorder DMAP1-associated disorder Supplemental_disease_name DISEASE_NAME:dmap1_related_disorder DMAP1-related disorder Supplemental_disease_name DISEASE_NAME:dmbt1_related_disorder DMBT1-related disorder Supplemental_disease_name DISEASE_NAME:dmbx1_related_disorder DMBX1-related disorder Supplemental_disease_name DISEASE_NAME:dmd_related_disorder DMD-related disorder Supplemental_disease_name DISEASE_NAME:dmd_related_muscular_dystrophy DMD-related muscular dystrophy Supplemental_disease_name DISEASE_NAME:dmgdh_related_disorder DMGDH-related disorder Supplemental_disease_name DISEASE_NAME:dmp1_related_disorder DMP1-related disorder Supplemental_disease_name DISEASE_NAME:dmpk_related_disorder DMPK-related disorder Supplemental_disease_name DISEASE_NAME:dmrt2_related_disorder DMRT2-related disorder Supplemental_disease_name DISEASE_NAME:dmwd_related_disorder DMWD-related disorder Supplemental_disease_name DISEASE_NAME:dmxl1_related_disorder DMXL1-related disorder Supplemental_disease_name DISEASE_NAME:dmxl2_related_disorder DMXL2-related disorder Supplemental_disease_name DISEASE_NAME:dna2_related_disorder DNA2-related disorder Supplemental_disease_name DISEASE_NAME:dna_ligase_i_deficiency DNA Ligase I Deficiency Supplemental_disease_name DISEASE_NAME:dna_ligase_iv_deficiency_multiple_myeloma DNA ligase IV deficiency;Multiple myeloma Supplemental_disease_name DISEASE_NAME:dna_topoisomerase_i_camptothecin_resistant DNA topoisomerase I, camptothecin-resistant Supplemental_disease_name DISEASE_NAME:dna_topoisomerase_ii_resistance_to_inhibition_of_by_amsacrine Dna topoisomerase II, resistance to inhibition of, by amsacrine Supplemental_disease_name DISEASE_NAME:dnaaf11_related_disorder DNAAF11-related disorder Supplemental_disease_name DISEASE_NAME:dnaaf1_related_disorder DNAAF1-related disorder Supplemental_disease_name DISEASE_NAME:dnaaf2_related_disorder DNAAF2-related disorder Supplemental_disease_name DISEASE_NAME:dnaaf3_related_disorder DNAAF3-related disorder Supplemental_disease_name DISEASE_NAME:dnaaf4_related_disorder DNAAF4-related disorder Supplemental_disease_name DISEASE_NAME:dnaaf4_related_disorders DNAAF4-Related Disorders Supplemental_disease_name DISEASE_NAME:dnaaf5_related_disorder DNAAF5-related disorder Supplemental_disease_name DISEASE_NAME:dnaaf6_related_disorder DNAAF6-related disorder Supplemental_disease_name DISEASE_NAME:dnah10_related_disorder DNAH10-related disorder Supplemental_disease_name DISEASE_NAME:dnah11_related_disorder DNAH11-related disorder Supplemental_disease_name DISEASE_NAME:dnah14_associated_neurodevelopmental_disorder DNAH14-Associated Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:dnah14_related_disorder DNAH14-related disorder Supplemental_disease_name DISEASE_NAME:dnah14_related_neurodevelopmental_disorder DNAH14-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:dnah17_related_disorder DNAH17-related disorder Supplemental_disease_name DISEASE_NAME:dnah1_related_disorder DNAH1-related disorder Supplemental_disease_name DISEASE_NAME:dnah2_related_disorder DNAH2-related disorder Supplemental_disease_name DISEASE_NAME:dnah5_related_disorder DNAH5-related disorder Supplemental_disease_name DISEASE_NAME:dnah6_related_disorder DNAH6-related disorder Supplemental_disease_name DISEASE_NAME:dnah7_related_disorder DNAH7-related disorder Supplemental_disease_name DISEASE_NAME:dnah8_related_disorder DNAH8-related disorder Supplemental_disease_name DISEASE_NAME:dnah9_related_disorder DNAH9-related disorder Supplemental_disease_name DISEASE_NAME:dnai1_related_disorder DNAI1-related disorder Supplemental_disease_name DISEASE_NAME:dnai2_related_disorder DNAI2-related disorder Supplemental_disease_name DISEASE_NAME:dnajb11_related_disorder DNAJB11-related disorder Supplemental_disease_name DISEASE_NAME:dnajb13_related_disorder DNAJB13-related disorder Supplemental_disease_name DISEASE_NAME:dnajb2_related_disorder DNAJB2-related disorder Supplemental_disease_name DISEASE_NAME:dnajb4_related_disorder DNAJB4-related disorder Supplemental_disease_name DISEASE_NAME:dnajb6_related_disorder DNAJB6-related disorder Supplemental_disease_name DISEASE_NAME:dnajc12_related_disorder DNAJC12-related disorder Supplemental_disease_name DISEASE_NAME:dnajc13_related_disorder DNAJC13-related disorder Supplemental_disease_name DISEASE_NAME:dnajc17_related_disorder DNAJC17-related disorder Supplemental_disease_name DISEASE_NAME:dnajc19_related_disorder DNAJC19-related disorder Supplemental_disease_name DISEASE_NAME:dnajc21_related_disorder DNAJC21-related disorder Supplemental_disease_name DISEASE_NAME:dnajc30_associated_disorder DNAJC30-associated disorder Supplemental_disease_name DISEASE_NAME:dnajc30_related_disorder DNAJC30-related disorder Supplemental_disease_name DISEASE_NAME:dnajc3_related_disorder DNAJC3-related disorder Supplemental_disease_name DISEASE_NAME:dnajc5_related_disorder DNAJC5-related disorder Supplemental_disease_name DISEASE_NAME:dnajc6_related_disorder DNAJC6-related disorder Supplemental_disease_name DISEASE_NAME:dnajc7_related_condition DNAJC7-related condition Supplemental_disease_name DISEASE_NAME:dnal1_related_disorder DNAL1-related disorder Supplemental_disease_name DISEASE_NAME:dnal4_related_disorder DNAL4-related disorder Supplemental_disease_name DISEASE_NAME:dnase1_related_disorder DNASE1-related disorder Supplemental_disease_name DISEASE_NAME:dnase1l3_related_disorder DNASE1L3-related disorder Supplemental_disease_name DISEASE_NAME:dnase2_related_disorder DNASE2-related disorder Supplemental_disease_name DISEASE_NAME:dnhd1_related_disorder DNHD1-related disorder Supplemental_disease_name DISEASE_NAME:dnhd1_related_intellectual_disability DNHD1-related Intellectual Disability Supplemental_disease_name DISEASE_NAME:dnhd1_related_neurodevelopmental_disorder DNHD1-related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:dnm1_related_disorder DNM1-related disorder Supplemental_disease_name DISEASE_NAME:dnm1_related_disorders DNM1-related disorders Supplemental_disease_name DISEASE_NAME:dnm1l_related_disorder DNM1L-related disorder Supplemental_disease_name DISEASE_NAME:dnm1l_related_mitochondrial_disorders DNM1L-related mitochondrial disorders Supplemental_disease_name DISEASE_NAME:dnm1l_related_movement_disorder DNM1L-related movement disorder Supplemental_disease_name DISEASE_NAME:dnm2_related_disorder DNM2-related disorder Supplemental_disease_name DISEASE_NAME:dnm2_related_disorders DNM2-related disorders Supplemental_disease_name DISEASE_NAME:dnm3_related_condition DNM3-related condition Supplemental_disease_name DISEASE_NAME:dnmbp_related_disorder DNMBP-related disorder Supplemental_disease_name DISEASE_NAME:dnmt1_related_disorder DNMT1-related disorder Supplemental_disease_name DISEASE_NAME:dnmt3a_related_disorder DNMT3A-related disorder Supplemental_disease_name DISEASE_NAME:dnmt3b_related_disorder DNMT3B-related disorder Supplemental_disease_name DISEASE_NAME:dock11_deficiency DOCK11 deficiency Supplemental_disease_name DISEASE_NAME:dock11_related_disorder DOCK11-related disorder Supplemental_disease_name DISEASE_NAME:dock1_related_disorder DOCK1-related disorder Supplemental_disease_name DISEASE_NAME:dock2_related_disorder DOCK2-related disorder Supplemental_disease_name DISEASE_NAME:dock3_related_disorder DOCK3-related disorder Supplemental_disease_name DISEASE_NAME:dock4_related_disorder DOCK4-related disorder Supplemental_disease_name DISEASE_NAME:dock6_related_disorder DOCK6-related disorder Supplemental_disease_name DISEASE_NAME:dock7_related_disorder DOCK7-related disorder Supplemental_disease_name DISEASE_NAME:dock8_related_disorder DOCK8-related disorder Supplemental_disease_name DISEASE_NAME:dohh_related_disorder DOHH-related disorder Supplemental_disease_name DISEASE_NAME:dohh_related_neurodevelopmental_disorder DOHH related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:dok7_related_disorder DOK7-related disorder Supplemental_disease_name DISEASE_NAME:dolichocephaly_abnormal_mitral_valve_morphology_micrognathia_striae_distensae_scoliosis Dolichocephaly;Abnormal mitral valve morphology;Micrognathia;Striae distensae;Scoliosis Supplemental_disease_name DISEASE_NAME:dolichocephaly_global_developmental_delay_delayed_speech_and_language_development Dolichocephaly;Global developmental delay;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:dolichocephaly_intellectual_disability Dolichocephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:dolichocephaly_macrocephaly_neonatal_hypotonia_large_for_gestational_age Dolichocephaly;Macrocephaly;Neonatal hypotonia;Large for gestational age Supplemental_disease_name DISEASE_NAME:dolk_related_disorder DOLK-related disorder Supplemental_disease_name DISEASE_NAME:dominant_beta_thalassemia Dominant beta-thalassemia Supplemental_disease_name DISEASE_NAME:dominant_beta_thalassemia_beta_thalassemia_hbb_lcrb Dominant beta-thalassemia;Beta-thalassemia HBB/LCRB Supplemental_disease_name DISEASE_NAME:dominant_beta_thalassemia_hb_ss_disease_beta_thalassemia_hbb_lcrb_alpha_thalassemia_heinz_body_anemia Dominant beta-thalassemia;Hb SS disease;Beta-thalassemia HBB/LCRB;alpha Thalassemia;Heinz body anemia Supplemental_disease_name DISEASE_NAME:dominant_beta_thalassemia_hb_ss_disease_fetal_hemoglobin_quantitative_trait_locus_1_beta_thalassemia Dominant beta-thalassemia;Hb SS disease;Fetal hemoglobin quantitative trait locus 1;beta Thalassemia Supplemental_disease_name DISEASE_NAME:dominant_congenital_non_syndromic_sensorineural_hearing_loss Dominant congenital non-syndromic sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin Dominant dystrophic epidermolysis bullosa with absence of skin Supplemental_disease_name DISEASE_NAME:dominant_hereditary_optic_atrophy Dominant hereditary optic atrophy Supplemental_disease_name DISEASE_NAME:dominant_hypophosphatemia_with_nephrolithiasis_or_osteoporosis Dominant hypophosphatemia with nephrolithiasis or osteoporosis Supplemental_disease_name DISEASE_NAME:dominant_progressive_sensorineural_hearing_loss Dominant progressive sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:dominantly_inherited_venous_malformations Dominantly inherited venous malformations Supplemental_disease_name DISEASE_NAME:donson_related_disorder DONSON-related disorder Supplemental_disease_name DISEASE_NAME:donson_related_meier_gorlin_syndrome DONSON-related Meier-Gorlin syndrome Supplemental_disease_name DISEASE_NAME:doors_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_86_developmental_and_epileptic_encephalopathy_16_familial_infantile_myoclonic_epilepsy_autosomal_dominant_nonsyndromic_hearing_loss_65 DOORS syndrome;Autosomal recessive nonsyndromic hearing loss 86;Developmental and epileptic encephalopathy, 16;Familial infantile myoclonic epilepsy;Autosomal dominant nonsyndromic hearing loss 65 Supplemental_disease_name DISEASE_NAME:dopamine_agonists_response Dopamine agonists response Supplemental_disease_name DISEASE_NAME:dopamine_beta_hydroxylase_polymorphism Dopamine beta-hydroxylase polymorphism Supplemental_disease_name DISEASE_NAME:dot1l_related_condition DOT1L-related condition Supplemental_disease_name DISEASE_NAME:dot1l_related_disorder DOT1L-related disorder Supplemental_disease_name DISEASE_NAME:dowling_degos_disease_1 Dowling-Degos disease 1 Supplemental_disease_name DISEASE_NAME:dowling_degos_disease_2 Dowling-Degos disease 2 Supplemental_disease_name DISEASE_NAME:dowling_degos_disease_4 Dowling-Degos disease 4 Supplemental_disease_name DISEASE_NAME:dowling_degos_disease_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2r1 Dowling-Degos disease 4;Autosomal recessive limb-girdle muscular dystrophy type 2R1 Supplemental_disease_name DISEASE_NAME:down_syndrome_susceptibility_to Down syndrome, susceptibility to Supplemental_disease_name DISEASE_NAME:down_syndrome_thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia_beta_thalassemia_x_linked_thrombocytopenia_syndrome_x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia Down syndrome;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;Beta-thalassemia-X-linked thrombocytopenia syndrome;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Supplemental_disease_name DISEASE_NAME:down_syndrome_thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia_x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia_beta_thalassemia_x_linked_thrombocytopenia_syndrome Down syndrome;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia;Beta-thalassemia-X-linked thrombocytopenia syndrome Supplemental_disease_name DISEASE_NAME:downslanted_palpebral_fissures_proteinuria_kidney_damage_hematuria Downslanted palpebral fissures;Proteinuria;Kidney damage;Hematuria Supplemental_disease_name DISEASE_NAME:doxorubicin_response Doxorubicin response Supplemental_disease_name DISEASE_NAME:dpagt1_congenital_disorder_of_glycosylation DPAGT1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:dpagt1_congenital_disorder_of_glycosylation_congenital_myasthenic_syndrome_13 DPAGT1-congenital disorder of glycosylation;Congenital myasthenic syndrome 13 Supplemental_disease_name DISEASE_NAME:dpagt1_related_disorder DPAGT1-related disorder Supplemental_disease_name DISEASE_NAME:dpf2_related_disorder DPF2-related disorder Supplemental_disease_name DISEASE_NAME:dph1_related_disorder DPH1-related disorder Supplemental_disease_name DISEASE_NAME:dpm1_related_disorder DPM1-related disorder Supplemental_disease_name DISEASE_NAME:dpm2_related_disorder DPM2-related disorder Supplemental_disease_name DISEASE_NAME:dpm3_congenital_disorder_of_glycosylation DPM3-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:dpm3_related_disorder DPM3-related disorder Supplemental_disease_name DISEASE_NAME:dpp10_related_disorder DPP10-related disorder Supplemental_disease_name DISEASE_NAME:dpp6_related_disorder DPP6-related disorder Supplemental_disease_name DISEASE_NAME:dpyd_related_disorder DPYD-related disorder Supplemental_disease_name DISEASE_NAME:dpys_related_disorder DPYS-related disorder Supplemental_disease_name DISEASE_NAME:dpysl2_related_disorder DPYSL2-related disorder Supplemental_disease_name DISEASE_NAME:dpysl5_related_disorder DPYSL5-related disorder Supplemental_disease_name DISEASE_NAME:dram2_related_disorder DRAM2-related disorder Supplemental_disease_name DISEASE_NAME:drash_syndrome Drash syndrome Supplemental_disease_name DISEASE_NAME:drash_syndrome_11p_partial_monosomy_syndrome_frasier_syndrome_wilms_tumor_1 Drash syndrome;11p partial monosomy syndrome;Frasier syndrome;Wilms tumor 1 Supplemental_disease_name DISEASE_NAME:drash_syndrome_11p_partial_monosomy_syndrome_wilms_tumor_1_frasier_syndrome Drash syndrome;11p partial monosomy syndrome;Wilms tumor 1;Frasier syndrome Supplemental_disease_name DISEASE_NAME:drash_syndrome_frasier_syndrome_wilms_tumor_1_11p_partial_monosomy_syndrome Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:drash_syndrome_nephrotic_syndrome_type_4 Drash syndrome;Nephrotic syndrome, type 4 Supplemental_disease_name DISEASE_NAME:drash_syndrome_wilms_tumor_1_11p_partial_monosomy_syndrome_frasier_syndrome Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome Supplemental_disease_name DISEASE_NAME:drash_syndrome_wilms_tumor_1_frasier_syndrome_11p_partial_monosomy_syndrome Drash syndrome;Wilms tumor 1;Frasier syndrome;11p partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:drc1_related_disorder DRC1-related disorder Supplemental_disease_name DISEASE_NAME:drd1_related_dystonia DRD1-related Dystonia Supplemental_disease_name DISEASE_NAME:drd2_associated_dystonia DRD2-associated Dystonia Supplemental_disease_name DISEASE_NAME:drd3_related_disorder DRD3-related disorder Supplemental_disease_name DISEASE_NAME:drd4_polymorphism DRD4 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:drd4_related_disorder DRD4-related disorder Supplemental_disease_name DISEASE_NAME:drd5_related_disorder DRD5-related disorder Supplemental_disease_name DISEASE_NAME:drooling_absent_speech_spastic_diplegia_cerebellar_ataxia_global_developmental_delay Drooling;Absent speech;Spastic diplegia;Cerebellar ataxia;Global developmental delay Supplemental_disease_name DISEASE_NAME:drosha_related_disorder DROSHA-related disorder Supplemental_disease_name DISEASE_NAME:drosha_related_neurodevelopmental_disorder DROSHA-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:drp2_related_disorder DRP2-related disorder Supplemental_disease_name DISEASE_NAME:drug_metabolism_altered_ces1_related DRUG METABOLISM, ALTERED, CES1-RELATED Supplemental_disease_name DISEASE_NAME:drug_metabolism_altered_cyp2c8_related DRUG METABOLISM, ALTERED, CYP2C8-RELATED Supplemental_disease_name DISEASE_NAME:drug_or_toxin_induced_pulmonary_arterial_hypertension_pulmonary_arterial_hypertension Drug- or toxin-induced pulmonary arterial hypertension;Pulmonary arterial hypertension Supplemental_disease_name DISEASE_NAME:dry_eye_syndrome_ehlers_danlos_syndrome Dry eye syndrome;Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:dsc2_related_disorder DSC2-related disorder Supplemental_disease_name DISEASE_NAME:dsc3_related_disorder DSC3-related disorder Supplemental_disease_name DISEASE_NAME:dscam_associated_neurodevelopmental_disorder DSCAM-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:dscam_related_disorder DSCAM-related disorder Supplemental_disease_name DISEASE_NAME:dscaml1_related_disorder DSCAML1-related disorder Supplemental_disease_name DISEASE_NAME:dsd_incomplete_virilization DSD incomplete virilization Supplemental_disease_name DISEASE_NAME:dse_related_disorder DSE-related disorder Supplemental_disease_name DISEASE_NAME:dsg1_related_disorder DSG1-related disorder Supplemental_disease_name DISEASE_NAME:dsg2_related_disorder DSG2-related disorder Supplemental_disease_name DISEASE_NAME:dsg4_related_disorder DSG4-related disorder Supplemental_disease_name DISEASE_NAME:dsp_related_arrhythmogenic_cardiomyopathy DSP-related arrhythmogenic cardiomyopathy Supplemental_disease_name DISEASE_NAME:dsp_related_cardiomyopathy DSP-related cardiomyopathy Supplemental_disease_name DISEASE_NAME:dsp_related_disorder DSP-related disorder Supplemental_disease_name DISEASE_NAME:dspp_related_disorder DSPP-related disorder Supplemental_disease_name DISEASE_NAME:dst_related_disorder DST-related disorder Supplemental_disease_name DISEASE_NAME:dstyk_related_disorder DSTYK-related disorder Supplemental_disease_name DISEASE_NAME:dstyk_related_disroder DSTYK-related disroder Supplemental_disease_name DISEASE_NAME:dthd1_related_disorder DTHD1-related disorder Supplemental_disease_name DISEASE_NAME:dtna_related_disorder DTNA-related disorder Supplemental_disease_name DISEASE_NAME:dtnbp1_related_disorder DTNBP1-related disorder Supplemental_disease_name DISEASE_NAME:duane_radial_ray_syndrome_oculootoradial_syndrome Duane-radial ray syndrome;Oculootoradial syndrome Supplemental_disease_name DISEASE_NAME:duane_retraction_syndrome_3_with_or_without_deafness Duane retraction syndrome 3 with or without deafness Supplemental_disease_name DISEASE_NAME:duane_retraction_syndrome_3_with_or_without_deafness_multicentric_carpo_tarsal_osteolysis_with_or_without_nephropathy Duane retraction syndrome 3 with or without deafness;Multicentric carpo-tarsal osteolysis with or without nephropathy Supplemental_disease_name DISEASE_NAME:duane_syndrome_type_1 Duane syndrome type 1 Supplemental_disease_name DISEASE_NAME:duane_syndrome_type_1_duane_retraction_syndrome_2 Duane syndrome type 1;Duane retraction syndrome 2 Supplemental_disease_name DISEASE_NAME:duane_syndrome_type_1_hypotonia_ataxia_and_delayed_development_syndrome Duane syndrome type 1;Hypotonia, ataxia, and delayed development syndrome Supplemental_disease_name DISEASE_NAME:duchenne_and_becker_muscular_dystrophy Duchenne and Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:duchenne_muscular_dystrophy_becker_muscular_dystrophy Duchenne muscular dystrophy;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:duchenne_muscular_dystrophy_becker_muscular_dystrophy_cardiomyopathy_dystrophin_deficiency Duchenne muscular dystrophy;Becker muscular dystrophy;Cardiomyopathy;Dystrophin deficiency Supplemental_disease_name DISEASE_NAME:duchenne_muscular_dystrophy_becker_muscular_dystrophy_dilated_cardiomyopathy_3b Duchenne muscular dystrophy;Becker muscular dystrophy;Dilated cardiomyopathy 3B Supplemental_disease_name DISEASE_NAME:duchenne_muscular_dystrophy_becker_muscular_dystrophy_dystrophin_deficiency_cardiomyopathy Duchenne muscular dystrophy;Becker muscular dystrophy;Dystrophin deficiency;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:duchenne_muscular_dystrophy_cardiomyopathy_becker_muscular_dystrophy_dystrophin_deficiency Duchenne muscular dystrophy;Cardiomyopathy;Becker muscular dystrophy;Dystrophin deficiency Supplemental_disease_name DISEASE_NAME:duchenne_muscular_dystrophy_cardiomyopathy_dystrophin_deficiency_becker_muscular_dystrophy Duchenne muscular dystrophy;Cardiomyopathy;Dystrophin deficiency;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:duchenne_muscular_dystrophy_dilated_cardiomyopathy_3b_becker_muscular_dystrophy Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:duchenne_muscular_dystrophy_dystrophin_deficiency_becker_muscular_dystrophy_cardiomyopathy Duchenne muscular dystrophy;Dystrophin deficiency;Becker muscular dystrophy;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:duchenne_muscular_dystrophy_dystrophin_deficiency_cardiomyopathy_becker_muscular_dystrophy Duchenne muscular dystrophy;Dystrophin deficiency;Cardiomyopathy;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:duchenne_or_becker_muscular_dystrophy Duchenne or Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:duffy_blood_group_system Duffy Blood group system Supplemental_disease_name DISEASE_NAME:duffy_blood_group_system_fy_a_b_phenotype DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE Supplemental_disease_name DISEASE_NAME:duffy_blood_group_system_fy_bwk_phenotype DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE Supplemental_disease_name DISEASE_NAME:duffy_blood_group_system_fya_fyb_polymorphism DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM Supplemental_disease_name DISEASE_NAME:duodenal_polyposis_adenomatous_colonic_polyposis_gastric_polyposis_hyperplastic_colonic_polyposis_intestinal_polyp Duodenal polyposis;Adenomatous colonic polyposis;Gastric polyposis;Hyperplastic colonic polyposis;Intestinal polyp Supplemental_disease_name DISEASE_NAME:duodenal_stenosis Duodenal stenosis Supplemental_disease_name DISEASE_NAME:duox1_related_disorder DUOX1-related disorder Supplemental_disease_name DISEASE_NAME:duox2_related_disorder DUOX2-related disorder Supplemental_disease_name DISEASE_NAME:duoxa2_related_disorder DUOXA2-related disorder Supplemental_disease_name DISEASE_NAME:duplication_8q12 duplication 8q12 Supplemental_disease_name DISEASE_NAME:duplication_of_the_pituitary_gland Duplication of the pituitary gland Supplemental_disease_name DISEASE_NAME:dursun_ozgul_neurodevelopmental_syndrome Dursun-Ozgul neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:dusp22_related_disorder DUSP22-related disorder Supplemental_disease_name DISEASE_NAME:dusp6_related_disorder DUSP6-related disorder Supplemental_disease_name DISEASE_NAME:dvl1_related_disorder DVL1-related disorder Supplemental_disease_name DISEASE_NAME:dvl2_related_disorder DVL2-related disorder Supplemental_disease_name DISEASE_NAME:dvl3_related_disorder DVL3-related disorder Supplemental_disease_name DISEASE_NAME:dworschak_punetha_neurodevelopmental_syndrome Dworschak-Punetha neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:dyggve_melchior_clausen_syndrome Dyggve-Melchior-Clausen syndrome Supplemental_disease_name DISEASE_NAME:dyggve_melchior_clausen_syndrome_smith_mccort_dysplasia_1 Dyggve-Melchior-Clausen syndrome;Smith-McCort dysplasia 1 Supplemental_disease_name DISEASE_NAME:dym_related_disorder DYM-related disorder Supplemental_disease_name DISEASE_NAME:dym_related_skeletal_dysplasia_syndrome DYM-Related Skeletal Dysplasia Syndrome Supplemental_disease_name DISEASE_NAME:dync1h1_related_disorder DYNC1H1-related disorder Supplemental_disease_name DISEASE_NAME:dync1h1_related_neurodevelopmental_disorders DYNC1H1-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:dync1h1_related_neurological_disorders DYNC1H1-related neurological disorders Supplemental_disease_name DISEASE_NAME:dync1h1_related_neuromuscular_disorder_dync1h1_nmd DYNC1H1-Related Neuromuscular Disorder (DYNC1H1-NMD) Supplemental_disease_name DISEASE_NAME:dync1h1_related_neuronopathy DYNC1H1-related neuronopathy Supplemental_disease_name DISEASE_NAME:dync1i1_related_disorder DYNC1I1-related disorder Supplemental_disease_name DISEASE_NAME:dync1i2_related_disorder DYNC1I2-related disorder Supplemental_disease_name DISEASE_NAME:dync2h1_related_disorder DYNC2H1-related disorder Supplemental_disease_name DISEASE_NAME:dync2i1_related_disorder DYNC2I1-related disorder Supplemental_disease_name DISEASE_NAME:dync2i2_related_disorder DYNC2I2-related disorder Supplemental_disease_name DISEASE_NAME:dync2li1_related_disorder DYNC2LI1-related disorder Supplemental_disease_name DISEASE_NAME:dynein_arm_defect_of_respiratory_motile_cilia_absent_inner_and_outer_dynein_arms_abnormal_ciliary_motility_bronchiectasis Dynein arm defect of respiratory motile cilia;Absent inner and outer dynein arms;Abnormal ciliary motility;Bronchiectasis Supplemental_disease_name DISEASE_NAME:dynein_arm_defect_of_respiratory_motile_cilia_recurrent_bronchitis_primary_ciliary_dyskinesia Dynein arm defect of respiratory motile cilia;Recurrent bronchitis;Primary ciliary dyskinesia Supplemental_disease_name DISEASE_NAME:dyneinopathy Dyneinopathy Supplemental_disease_name DISEASE_NAME:dynlt2b_related_disorder DYNLT2B-related disorder Supplemental_disease_name DISEASE_NAME:dyrk1a_related_disorder DYRK1A-related disorder Supplemental_disease_name DISEASE_NAME:dyrk1a_related_intellectual_disability_syndrome DYRK1A-related intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:dyrk1b_related_disorder DYRK1B-related disorder Supplemental_disease_name DISEASE_NAME:dysarthria Dysarthria Supplemental_disease_name DISEASE_NAME:dysarthria_incoordination_generalized_dystonia Dysarthria;Incoordination;Generalized dystonia Supplemental_disease_name DISEASE_NAME:dysarthria_mild_intellectual_disability_gait_ataxia Dysarthria;Mild intellectual disability;Gait ataxia Supplemental_disease_name DISEASE_NAME:dysarthria_muscle_weakness_cerebellar_ataxia_abnormal_pyramidal_sign Dysarthria;Muscle weakness;Cerebellar ataxia;Abnormal pyramidal sign Supplemental_disease_name DISEASE_NAME:dysarthria_myoclonus_nystagmus_seizure_tremor Dysarthria;Myoclonus;Nystagmus;Seizure;Tremor Supplemental_disease_name DISEASE_NAME:dysarthria_spastic_paraparesis_gait_ataxia_cerebral_cortical_atrophy Dysarthria;Spastic paraparesis;Gait ataxia;Cerebral cortical atrophy Supplemental_disease_name DISEASE_NAME:dyschromatosis_ungual_dystrophy_spino_cellular_carcinoma_alopecia_palmoplantar_keratoderma dyschromatosis;Ungual dystrophy;spino-cellular carcinoma;Alopecia;Palmoplantar keratoderma Supplemental_disease_name DISEASE_NAME:dyschromatosis_universalis_hereditaria_1 Dyschromatosis universalis hereditaria 1 Supplemental_disease_name DISEASE_NAME:dyschromatosis_universalis_hereditaria_1_cancer_alopecia_pigment_dyscrasia_onychodystrophy_and_keratoderma Dyschromatosis universalis hereditaria 1;Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Supplemental_disease_name DISEASE_NAME:dyschromatosis_universalis_hereditaria_3 Dyschromatosis universalis hereditaria 3 Supplemental_disease_name DISEASE_NAME:dyschromatosis_universalis_hereditaria_3_microphthalmia_isolated_with_coloboma_7_langereis_blood_group_familial_pseudohyperkalemia Dyschromatosis universalis hereditaria 3;Microphthalmia, isolated, with coloboma 7;Langereis blood group;Familial pseudohyperkalemia Supplemental_disease_name DISEASE_NAME:dysequilibrium_syndrome Dysequilibrium syndrome Supplemental_disease_name DISEASE_NAME:dysf_related_disorder DYSF-related disorder Supplemental_disease_name DISEASE_NAME:dysfibrinogenemia Dysfibrinogenemia Supplemental_disease_name DISEASE_NAME:dysgenesis_of_the_cerebellar_vermis Dysgenesis of the cerebellar vermis Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_1 Dyskeratosis congenita, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_1_dyskeratosis_congenita_autosomal_dominant_3_revesz_syndrome Dyskeratosis congenita, autosomal dominant 1;Dyskeratosis congenita, autosomal dominant 3;Revesz syndrome Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_1_revesz_syndrome_dyskeratosis_congenita_autosomal_dominant_3 Dyskeratosis congenita, autosomal dominant 1;Revesz syndrome;Dyskeratosis congenita, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_2 Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_2_acute_myeloid_leukemia_melanoma_cutaneous_malignant_susceptibility_to_9_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1 Dyskeratosis congenita, autosomal dominant 2;Acute myeloid leukemia;Melanoma, cutaneous malignant, susceptibility to, 9;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_2_idiopathic_pulmonary_fibrosis Dyskeratosis congenita, autosomal dominant 2;Idiopathic Pulmonary Fibrosis Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_2_interstitial_lung_disease_2 Dyskeratosis congenita, autosomal dominant 2;Interstitial lung disease 2 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_2_melanoma_cutaneous_malignant_susceptibility_to_9_acute_myeloid_leukemia_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1 Dyskeratosis congenita, autosomal dominant 2;Melanoma, cutaneous malignant, susceptibility to, 9;Acute myeloid leukemia;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_2_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1 Dyskeratosis congenita, autosomal dominant 2;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_2_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_melanoma_cutaneous_malignant_susceptibility_to_9_acute_myeloid_leukemia Dyskeratosis congenita, autosomal dominant 2;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Melanoma, cutaneous malignant, susceptibility to, 9;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_3 Dyskeratosis congenita, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_3_dyskeratosis_congenita_autosomal_dominant_1_revesz_syndrome Dyskeratosis congenita, autosomal dominant 3;Dyskeratosis congenita, autosomal dominant 1;Revesz syndrome Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_3_revesz_syndrome Dyskeratosis congenita, autosomal dominant 3;Revesz syndrome Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_3_revesz_syndrome_dyskeratosis_congenita_autosomal_dominant_1 Dyskeratosis congenita, autosomal dominant 3;Revesz syndrome;Dyskeratosis congenita, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_4 Dyskeratosis congenita, autosomal dominant 4 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_6 Dyskeratosis congenita, autosomal dominant 6 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_1 Dyskeratosis congenita, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_1_dyskeratosis_congenita_autosomal_recessive_2 Dyskeratosis congenita, autosomal recessive 1;Dyskeratosis congenita, autosomal recessive 2 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_1_pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_9_cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_2 Dyskeratosis congenita, autosomal recessive 1;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9;Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_2 Dyskeratosis congenita, autosomal recessive 2 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_2_dyskeratosis_congenita_autosomal_recessive_1 Dyskeratosis congenita, autosomal recessive 2;Dyskeratosis congenita, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_3 Dyskeratosis congenita, autosomal recessive 3 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_5 Dyskeratosis congenita, autosomal recessive 5 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_5_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_3 Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_6 Dyskeratosis congenita, autosomal recessive 6 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_6_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_4 Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_7 Dyskeratosis congenita, autosomal recessive 7 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_recessive_8 Dyskeratosis congenita, autosomal recessive 8 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_diffuse_interstitial_pulmonary_fibrosis Dyskeratosis congenita;Diffuse interstitial pulmonary fibrosis Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_digenic Dyskeratosis congenita, digenic Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_x_linked Dyskeratosis congenita, X-linked Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_x_linked_cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_1 Dyskeratosis congenita, X-linked;Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 Supplemental_disease_name DISEASE_NAME:dyskinesia_chorea Dyskinesia;Chorea Supplemental_disease_name DISEASE_NAME:dyskinesia_with_orofacial_involvement Dyskinesia with orofacial involvement Supplemental_disease_name DISEASE_NAME:dyskinesia_with_orofacial_involvement_autosomal_dominant Dyskinesia with orofacial involvement, autosomal dominant Supplemental_disease_name DISEASE_NAME:dyskinesia_with_orofacial_involvement_autosomal_dominant_dyskinesia_with_orofacial_involvement_autosomal_recessive_neurodevelopmental_disorder_with_hyperkinetic_movements_and_dyskinesia Dyskinesia with orofacial involvement, autosomal dominant;Dyskinesia with orofacial involvement, autosomal recessive;Neurodevelopmental disorder with hyperkinetic movements and dyskinesia Supplemental_disease_name DISEASE_NAME:dyskinesia_with_orofacial_involvement_autosomal_recessive Dyskinesia with orofacial involvement, autosomal recessive Supplemental_disease_name DISEASE_NAME:dyskinesia_with_orofacial_involvement_autosomal_recessive_dyskinesia_with_orofacial_involvement_autosomal_dominant_neurodevelopmental_disorder_with_hyperkinetic_movements_and_dyskinesia Dyskinesia with orofacial involvement, autosomal recessive;Dyskinesia with orofacial involvement, autosomal dominant;Neurodevelopmental disorder with hyperkinetic movements and dyskinesia Supplemental_disease_name DISEASE_NAME:dyskinesia_with_orofacial_involvement_autosomal_recessive_neurodevelopmental_disorder_with_hyperkinetic_movements_and_dyskinesia_dyskinesia_with_orofacial_involvement_autosomal_dominant Dyskinesia with orofacial involvement, autosomal recessive;Neurodevelopmental disorder with hyperkinetic movements and dyskinesia;Dyskinesia with orofacial involvement, autosomal dominant Supplemental_disease_name DISEASE_NAME:dyslexia_susceptibility_to_1 Dyslexia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:dyslexia_susceptibility_to_1_primary_ciliary_dyskinesia_25 Dyslexia, susceptibility to, 1;Primary ciliary dyskinesia 25 Supplemental_disease_name DISEASE_NAME:dyslexia_susceptibility_to_2 Dyslexia, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:dysmetria Dysmetria Supplemental_disease_name DISEASE_NAME:dysmorphic_features Dysmorphic features Supplemental_disease_name DISEASE_NAME:dysmorphy_intellectual_deficiency dysmorphy;intellectual deficiency Supplemental_disease_name DISEASE_NAME:dysosteosclerosis Dysosteosclerosis Supplemental_disease_name DISEASE_NAME:dysostosis_multiplex_ain_naz_type Dysostosis multiplex, Ain-Naz type Supplemental_disease_name DISEASE_NAME:dysphagia_abnormality_of_the_neck_low_set_ears Dysphagia;Abnormality of the neck;Low-set ears Supplemental_disease_name DISEASE_NAME:dysphagia_bilateral_ptosis_gastroesophageal_reflux_respiratory_failure Dysphagia;Bilateral ptosis;Gastroesophageal reflux;Respiratory failure Supplemental_disease_name DISEASE_NAME:dysphasia_hemiparesis_headache Dysphasia;Hemiparesis;Headache Supplemental_disease_name DISEASE_NAME:dysplasminogenemia Dysplasminogenemia Supplemental_disease_name DISEASE_NAME:dysplastic_corpus_callosum Dysplastic corpus callosum Supplemental_disease_name DISEASE_NAME:dysprothrombinemia_prothrombin_himi_ii DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II Supplemental_disease_name DISEASE_NAME:dystonia_12 Dystonia 12 Supplemental_disease_name DISEASE_NAME:dystonia_12_alternating_hemiplegia_of_childhood_2_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome Dystonia 12;Alternating hemiplegia of childhood 2;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Supplemental_disease_name DISEASE_NAME:dystonia_12_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome_developmental_and_epileptic_encephalopathy_99_alternating_hemiplegia_of_childhood_2 Dystonia 12;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Developmental and epileptic encephalopathy 99;Alternating hemiplegia of childhood 2 Supplemental_disease_name DISEASE_NAME:dystonia_12_developmental_and_epileptic_encephalopathy_99_alternating_hemiplegia_of_childhood_2 Dystonia 12;Developmental and epileptic encephalopathy 99;Alternating hemiplegia of childhood 2 Supplemental_disease_name DISEASE_NAME:dystonia_12_developmental_and_epileptic_encephalopathy_99_alternating_hemiplegia_of_childhood_2_cerebellar_ataxia_areflexia_pes_cavus_optic_atrophy_sensorineural_hearing_loss_syndrome Dystonia 12;Developmental and epileptic encephalopathy 99;Alternating hemiplegia of childhood 2;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Supplemental_disease_name DISEASE_NAME:dystonia_1_torsion_late_onset Dystonia 1, torsion, late-onset Supplemental_disease_name DISEASE_NAME:dystonia_22_adult_onset_dystonia_22_juvenile_onset Dystonia 22, adult-onset;Dystonia 22, juvenile-onset Supplemental_disease_name DISEASE_NAME:dystonia_27_bethlem_myopathy_1a_ullrich_congenital_muscular_dystrophy_1a Dystonia 27;Bethlem myopathy 1A;Ullrich congenital muscular dystrophy 1A Supplemental_disease_name DISEASE_NAME:dystonia_27_bethlem_myopathy_1c_ullrich_congenital_muscular_dystrophy_1c Dystonia 27;Bethlem myopathy 1C;Ullrich congenital muscular dystrophy 1C Supplemental_disease_name DISEASE_NAME:dystonia_27_ullrich_congenital_muscular_dystrophy_1a_bethlem_myopathy_1a Dystonia 27;Ullrich congenital muscular dystrophy 1A;Bethlem myopathy 1A Supplemental_disease_name DISEASE_NAME:dystonia_27_ullrich_congenital_muscular_dystrophy_1a_bethlem_myopathy_1a_collagen_6_related_myopathy Dystonia 27;Ullrich congenital muscular dystrophy 1A;Bethlem myopathy 1A;Collagen 6-related myopathy Supplemental_disease_name DISEASE_NAME:dystonia_28_childhood_onset_intellectual_developmental_disorder_autosomal_dominant_68 Dystonia 28, childhood-onset;Intellectual developmental disorder, autosomal dominant 68 Supplemental_disease_name DISEASE_NAME:dystonia_34_myoclonic Dystonia 34, myoclonic Supplemental_disease_name DISEASE_NAME:dystonia_34_myoclonic_neurodevelopmental_disorder_with_or_without_variable_movement_or_behavioral_abnormalities Dystonia 34, myoclonic;Neurodevelopmental disorder with or without variable movement or behavioral abnormalities Supplemental_disease_name DISEASE_NAME:dystonia_38_susceptibility_to Dystonia 38, susceptibility to Supplemental_disease_name DISEASE_NAME:dystonia_5_gtp_cyclohydrolase_i_deficiency Dystonia 5;GTP cyclohydrolase I deficiency Supplemental_disease_name DISEASE_NAME:dystonia_5_gtp_cyclohydrolase_i_deficiency_with_hyperphenylalaninemia Dystonia 5;GTP cyclohydrolase I deficiency with hyperphenylalaninemia Supplemental_disease_name DISEASE_NAME:dystonia_9_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2_hereditary_cryohydrocytosis_with_reduced_stomatin_epilepsy_idiopathic_generalized_susceptibility_to_12 Dystonia 9;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Hereditary cryohydrocytosis with reduced stomatin;Epilepsy, idiopathic generalized, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:dystonia_9_epilepsy_idiopathic_generalized_susceptibility_to_12_hereditary_cryohydrocytosis_with_reduced_stomatin_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2 Dystonia 9;Epilepsy, idiopathic generalized, susceptibility to, 12;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2 Supplemental_disease_name DISEASE_NAME:dystonia_9_hereditary_cryohydrocytosis_with_reduced_stomatin_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2 Dystonia 9;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2 Supplemental_disease_name DISEASE_NAME:dystonia_9_hereditary_cryohydrocytosis_with_reduced_stomatin_epilepsy_idiopathic_generalized_susceptibility_to_12_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2 Dystonia 9;Hereditary cryohydrocytosis with reduced stomatin;Epilepsy, idiopathic generalized, susceptibility to, 12;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2 Supplemental_disease_name DISEASE_NAME:dystonia_adult_onset Dystonia, adult-onset Supplemental_disease_name DISEASE_NAME:dystonia_childhood_onset_with_optic_atrophy_and_basal_ganglia_abnormalities Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities Supplemental_disease_name DISEASE_NAME:dystonia_childhood_onset_with_optic_atrophy_and_basal_ganglia_abnormalities_optic_atrophy_16 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities;Optic atrophy 16 Supplemental_disease_name DISEASE_NAME:dystonia_dopa_responsive_with_or_without_hyperphenylalaninemia_autosomal_recessive Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Supplemental_disease_name DISEASE_NAME:dystonia_early_onset_and_or_spastic_paraplegia Dystonia, early-onset, and/or spastic paraplegia Supplemental_disease_name DISEASE_NAME:dystonia_early_onset_atypical_with_myoclonic_features Dystonia, early-onset atypical, with myoclonic features Supplemental_disease_name DISEASE_NAME:dystonia_intellectual_disability_and_language_impairment Dystonia, intellectual disability and language impairment Supplemental_disease_name DISEASE_NAME:dystonia_mitochondrial Dystonia, mitochondrial Supplemental_disease_name DISEASE_NAME:dystonia_primary_cervical Dystonia, primary cervical Supplemental_disease_name DISEASE_NAME:dystonic_disorder Dystonic disorder Supplemental_disease_name DISEASE_NAME:dystonic_disorder_basal_ganglia_calcification Dystonic disorder;Basal ganglia calcification Supplemental_disease_name DISEASE_NAME:dystonic_disorder_chorea Dystonic disorder;Chorea Supplemental_disease_name DISEASE_NAME:dystonic_disorder_dysarthria Dystonic disorder;Dysarthria Supplemental_disease_name DISEASE_NAME:dystonic_disorder_hyperkinetic_movements_abnormal_cerebellum_morphology_optic_atrophy Dystonic disorder;Hyperkinetic movements;Abnormal cerebellum morphology;Optic atrophy Supplemental_disease_name DISEASE_NAME:dystonic_disorder_intellectual_disability Dystonic disorder;Intellectual disability Supplemental_disease_name DISEASE_NAME:dystonic_disorder_mental_deterioration Dystonic disorder;Mental deterioration Supplemental_disease_name DISEASE_NAME:dystonic_disorder_mental_deterioration_tremor_adult_onset_night_blindness_peripheral_visual_field_loss Dystonic disorder;Mental deterioration;Tremor;Adult-onset night blindness;Peripheral visual field loss Supplemental_disease_name DISEASE_NAME:dystonic_disorder_myoclonus Dystonic disorder;Myoclonus Supplemental_disease_name DISEASE_NAME:dystonic_disorder_parkinsonian_disorder_dementia_depression Dystonic disorder;Parkinsonian disorder;Dementia;Depression Supplemental_disease_name DISEASE_NAME:dystonic_disorder_seizure_neurodevelopmental_delay_dyskinesia Dystonic disorder;Seizure;Neurodevelopmental delay;Dyskinesia Supplemental_disease_name DISEASE_NAME:dystonic_disorder_tetraparesis_oculogyric_crisis Dystonic disorder;Tetraparesis;Oculogyric crisis Supplemental_disease_name DISEASE_NAME:dystrophia_developmental_delay dystrophia;Developmental delay Supplemental_disease_name DISEASE_NAME:dystrophin_deficiency Dystrophin deficiency Supplemental_disease_name DISEASE_NAME:dystrophin_deficiency_becker_muscular_dystrophy_cardiomyopathy_duchenne_muscular_dystrophy Dystrophin deficiency;Becker muscular dystrophy;Cardiomyopathy;Duchenne muscular dystrophy Supplemental_disease_name DISEASE_NAME:dystrophin_deficiency_becker_muscular_dystrophy_duchenne_muscular_dystrophy_cardiomyopathy Dystrophin deficiency;Becker muscular dystrophy;Duchenne muscular dystrophy;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:dystrophin_deficiency_cardiomyopathy_becker_muscular_dystrophy_duchenne_muscular_dystrophy Dystrophin deficiency;Cardiomyopathy;Becker muscular dystrophy;Duchenne muscular dystrophy Supplemental_disease_name DISEASE_NAME:dystrophin_deficiency_cardiomyopathy_duchenne_muscular_dystrophy_becker_muscular_dystrophy Dystrophin deficiency;Cardiomyopathy;Duchenne muscular dystrophy;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:dystrophin_deficiency_duchenne_muscular_dystrophy_becker_muscular_dystrophy_cardiomyopathy Dystrophin deficiency;Duchenne muscular dystrophy;Becker muscular dystrophy;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:dystrophin_deficiency_duchenne_muscular_dystrophy_cardiomyopathy_becker_muscular_dystrophy Dystrophin deficiency;Duchenne muscular dystrophy;Cardiomyopathy;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:dystrophinopathies Dystrophinopathies Supplemental_disease_name DISEASE_NAME:dzip1_related_disorder DZIP1-related disorder Supplemental_disease_name DISEASE_NAME:dzip1l_related_disorder DZIP1L-related disorder Supplemental_disease_name DISEASE_NAME:e2f1_related_disorder E2F1-related disorder Supplemental_disease_name DISEASE_NAME:e2f3_related_disorder E2F3-related disorder Supplemental_disease_name DISEASE_NAME:ear_malformation Ear malformation Supplemental_disease_name DISEASE_NAME:early_age_onset_of_sporadic_thoracic_aortic_dissections Early age onset of sporadic thoracic aortic dissections Supplemental_disease_name DISEASE_NAME:early_childhood_onset_neurodegeneration_with_retinitis_pigmentosa_sensorineural_hearing_loss_and_demyelinating_peripheral_neuropathy Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy Supplemental_disease_name DISEASE_NAME:early_infantile_dee Early-infantile DEE Supplemental_disease_name DISEASE_NAME:early_infantile_developmental_and_epileptic_encephalopathy Early-infantile developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:early_infantile_epileptic_encephalopathy_autosomal_dominant_migraine_familial_hemiplegic_1 Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:early_infantile_epileptic_encephalopathy_autosomal_recessive Early Infantile Epileptic Encephalopathy, Autosomal Recessive Supplemental_disease_name DISEASE_NAME:early_onset_alzheimer_disease_with_behavioral_disturbance Early onset Alzheimer disease with behavioral disturbance Supplemental_disease_name DISEASE_NAME:early_onset_and_severe_retinal_dystrophy early onset and severe retinal dystrophy Supplemental_disease_name DISEASE_NAME:early_onset_and_severe_retinal_dystrophy_with_neurological_impairment_and_facial_dysmorphia Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia Supplemental_disease_name DISEASE_NAME:early_onset_anterior_polar_cataract Early-onset anterior polar cataract Supplemental_disease_name DISEASE_NAME:early_onset_autosomal_dominant_alzheimer_disease Early-onset autosomal dominant Alzheimer disease Supplemental_disease_name DISEASE_NAME:early_onset_breast_cancer Early onset breast cancer Supplemental_disease_name DISEASE_NAME:early_onset_chronic_pancreatitis Early-onset chronic pancreatitis Supplemental_disease_name DISEASE_NAME:early_onset_coronary_artery_disease Early-onset coronary artery disease Supplemental_disease_name DISEASE_NAME:early_onset_dementia_of_unclear_type Early-onset dementia of unclear type Supplemental_disease_name DISEASE_NAME:early_onset_epileptic_encephalopathy Early onset epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:early_onset_epileptic_encephalopathy_and_intellectual_disability_due_to_grin2a_mutation Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Supplemental_disease_name DISEASE_NAME:early_onset_familial_hypoaldosteronism Early-onset familial hypoaldosteronism Supplemental_disease_name DISEASE_NAME:early_onset_generalized_limb_onset_dystonia Early-onset generalized limb-onset dystonia Supplemental_disease_name DISEASE_NAME:early_onset_generalized_limb_onset_dystonia_arthrogryposis_multiplex_congenita_5 Early-onset generalized limb-onset dystonia;Arthrogryposis multiplex congenita 5 Supplemental_disease_name DISEASE_NAME:early_onset_multivalvular_disease Early onset multivalvular disease Supplemental_disease_name DISEASE_NAME:early_onset_myopathy_with_fatal_cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Supplemental_disease_name DISEASE_NAME:early_onset_myopathy_with_fatal_cardiomyopathy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j Early-onset myopathy with fatal cardiomyopathy;Autosomal recessive limb-girdle muscular dystrophy type 2J Supplemental_disease_name DISEASE_NAME:early_onset_myopathy_with_fatal_cardiomyopathy_hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g Early-onset myopathy with fatal cardiomyopathy;Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G Supplemental_disease_name DISEASE_NAME:early_onset_myopathy_with_fatal_cardiomyopathy_hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g_tibial_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j Early-onset myopathy with fatal cardiomyopathy;Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G;Tibial muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2J Supplemental_disease_name DISEASE_NAME:early_onset_myopathy_with_fatal_cardiomyopathy_myopathy_myofibrillar_9_with_early_respiratory_failure Early-onset myopathy with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:early_onset_neurohypophyseal_diabetes_insipidus early-onset neurohypophyseal diabetes insipidus Supplemental_disease_name DISEASE_NAME:early_onset_neurological_disease_trait Early Onset Neurological Disease Trait Supplemental_disease_name DISEASE_NAME:early_onset_non_syndromic_cataract Early-onset non-syndromic cataract Supplemental_disease_name DISEASE_NAME:early_onset_parkinson_disease_20_developmental_and_epileptic_encephalopathy_1 Early-onset Parkinson disease 20;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:early_onset_parkinson_disease_20_developmental_and_epileptic_encephalopathy_53 Early-onset Parkinson disease 20;Developmental and epileptic encephalopathy, 53 Supplemental_disease_name DISEASE_NAME:early_onset_parkinsonism_intellectual_disability_syndrome_intellectual_disability_x_linked_72 Early-onset parkinsonism-intellectual disability syndrome;Intellectual disability, X-linked 72 Supplemental_disease_name DISEASE_NAME:early_onset_progressive_diffuse_brain_atrophy_microcephaly_muscle_weakness_optic_atrophy_syndrome Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Supplemental_disease_name DISEASE_NAME:early_onset_progressive_encephalopathy_hearing_loss_pons_hypoplasia_brain_atrophy_syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Supplemental_disease_name DISEASE_NAME:early_onset_progressive_neurodegeneration_blindness_ataxia_spasticity_syndrome_parkinson_disease_5_autosomal_dominant_susceptibility_to Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome;Parkinson disease 5, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:early_onset_retinal_dystrophy Early-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:early_onset_retinitis_pigmentosa Early-onset retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:early_onset_severe_obesity Early onset severe obesity Supplemental_disease_name DISEASE_NAME:early_repolarization_associated_with_ventricular_fibrillation Early repolarization associated with ventricular fibrillation Supplemental_disease_name DISEASE_NAME:early_t_cell_progenitor_acute_lymphoblastic_leukemia Early T cell progenitor acute lymphoblastic leukemia Supplemental_disease_name DISEASE_NAME:ears2_related_disorder EARS2-related disorder Supplemental_disease_name DISEASE_NAME:east_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_4 EAST syndrome;Autosomal recessive nonsyndromic hearing loss 4 Supplemental_disease_name DISEASE_NAME:east_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_4_pendred_syndrome EAST syndrome;Autosomal recessive nonsyndromic hearing loss 4;Pendred syndrome Supplemental_disease_name DISEASE_NAME:east_syndrome_pendred_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_4 EAST syndrome;Pendred syndrome;Autosomal recessive nonsyndromic hearing loss 4 Supplemental_disease_name DISEASE_NAME:ebf3_related_disorder EBF3-related disorder Supplemental_disease_name DISEASE_NAME:ebp_related_disorder EBP-related disorder Supplemental_disease_name DISEASE_NAME:ebstein_anomaly_mild_intellectual_disability_decreased_response_to_growth_hormone_stimulation_test Ebstein anomaly;Mild intellectual disability;Decreased response to growth hormone stimulation test Supplemental_disease_name DISEASE_NAME:ebv_positive_inflammatory_follicular_dendritic_cell_sarcoma EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma Supplemental_disease_name DISEASE_NAME:ebv_positive_nodal_t_and_nk_cell_lymphoma EBV-positive nodal T- and NK-cell lymphoma Supplemental_disease_name DISEASE_NAME:eccrine_angiomatous_hamartoma Eccrine angiomatous hamartoma Supplemental_disease_name DISEASE_NAME:ece1_related_disorder ECE1-related disorder Supplemental_disease_name DISEASE_NAME:ecel1_related_disorder ECEL1-related disorder Supplemental_disease_name DISEASE_NAME:echogenic_fetal_bowel_bilateral_fetal_pyelectasis_ventriculomegaly_partial_agenesis_of_the_corpus_callosum_neurodevelopmental_abnormality Echogenic fetal bowel;Bilateral fetal pyelectasis;Ventriculomegaly;Partial agenesis of the corpus callosum;Neurodevelopmental abnormality Supplemental_disease_name DISEASE_NAME:echs1_related_disorder ECHS1-related disorder Supplemental_disease_name DISEASE_NAME:ecm1_related_disorder ECM1-related disorder Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant_autosomal_recessive_hypohidrotic_ectodermal_dysplasia_syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant_ectodermal_dysplasia_10b_hypohidrotic_hair_tooth_type_autosomal_recessive Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_10a_hypohidrotic_hair_tooth_type_autosomal_dominant Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_10b_hypohidrotic_hair_tooth_type_autosomal_recessive Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_10b_hypohidrotic_hair_tooth_type_autosomal_recessive_ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_10b_hypohidrotic_hair_tooth_type_autosomal_recessive_ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant_hair_morphology_1 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;HAIR MORPHOLOGY 1 Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_10b_hypohidrotic_hair_tooth_type_autosomal_recessive_hair_morphology_1_ectodermal_dysplasia_10a_hypohidrotic_hair_nail_type_autosomal_dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;HAIR MORPHOLOGY 1;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_11a_hypohidrotic_hair_tooth_type_autosomal_dominant_ectodermal_dysplasia_11b_hypohidrotic_hair_tooth_type_autosomal_recessive Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_11b_hypohidrotic_hair_tooth_type_autosomal_dominant ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_11b_hypohidrotic_hair_tooth_type_autosomal_recessive_ectodermal_dysplasia_11a_hypohidrotic_hair_tooth_type_autosomal_dominant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_14_hair_tooth_type_with_hypohidrosis Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_14_hair_tooth_type_with_or_without_hypohidrosis_autosomal_recessive_nonsyndromic_hearing_loss_98 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis;Autosomal recessive nonsyndromic hearing loss 98 Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_14_hair_tooth_type_with_or_without_hypohidrosis_tooth_agenesis_selective_10_autosomal_recessive_nonsyndromic_hearing_loss_98 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis;Tooth agenesis, selective, 10;Autosomal recessive nonsyndromic hearing loss 98 Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_17_with_or_without_limb_malformations Ectodermal dysplasia 17 with or without limb malformations Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_7_hair_nail_type_autosomal_dominant_wooly_hair_hypotrichosis_3 Ectodermal dysplasia 7, hair/nail type;Autosomal dominant wooly hair;Hypotrichosis 3 Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_and_immunodeficiency_1_immunodeficiency_33 Ectodermal dysplasia and immunodeficiency 1;Immunodeficiency 33 Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_and_immunodeficiency_1_incontinentia_pigmenti_syndrome_immunodeficiency_33 Ectodermal dysplasia and immunodeficiency 1;Incontinentia pigmenti syndrome;Immunodeficiency 33 Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_and_immunodeficiency_1_incontinentia_pigmenti_syndrome_immunodeficiency_33_immunodeficiency_47 Ectodermal dysplasia and immunodeficiency 1;Incontinentia pigmenti syndrome;Immunodeficiency 33;Immunodeficiency 47 Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_and_immunodeficiency_1_male_restricted ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_syndactyly_syndrome_1 Ectodermal dysplasia-syndactyly syndrome 1 Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_with_facial_dysmorphism_and_acral_ocular_and_brain_anomalies Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies Supplemental_disease_name DISEASE_NAME:ectodermal_dysplasia_wnt10a_related Ectodermal dysplasia WNT10A related Supplemental_disease_name DISEASE_NAME:ectopia_lentis Ectopia lentis Supplemental_disease_name DISEASE_NAME:ectopia_lentis_1_isolated_autosomal_dominant Ectopia lentis 1, isolated, autosomal dominant Supplemental_disease_name DISEASE_NAME:ectopia_lentis_1_isolated_autosomal_dominant_familial_thoracic_aortic_aneurysm_and_aortic_dissection_mass_syndrome_marfan_syndrome_stiff_skin_syndrome Ectopia lentis 1, isolated, autosomal dominant;Familial thoracic aortic aneurysm and aortic dissection;MASS syndrome;Marfan syndrome;Stiff skin syndrome Supplemental_disease_name DISEASE_NAME:ectopia_lentis_1_isolated_autosomal_dominant_marfan_syndrome_stiff_skin_syndrome_familial_thoracic_aortic_aneurysm_and_aortic_dissection_mass_syndrome Ectopia lentis 1, isolated, autosomal dominant;Marfan syndrome;Stiff skin syndrome;Familial thoracic aortic aneurysm and aortic dissection;MASS syndrome Supplemental_disease_name DISEASE_NAME:ectopia_lentis_1_isolated_autosomal_dominant_mass_syndrome_familial_thoracic_aortic_aneurysm_and_aortic_dissection_stiff_skin_syndrome_marfan_syndrome Ectopia lentis 1, isolated, autosomal dominant;MASS syndrome;Familial thoracic aortic aneurysm and aortic dissection;Stiff skin syndrome;Marfan syndrome Supplemental_disease_name DISEASE_NAME:ectopia_lentis_2_isolated_autosomal_recessive Ectopia lentis 2, isolated, autosomal recessive Supplemental_disease_name DISEASE_NAME:ectopia_lentis_2_isolated_autosomal_recessive_ectopia_lentis_et_pupillae Ectopia lentis 2, isolated, autosomal recessive;Ectopia lentis et pupillae Supplemental_disease_name DISEASE_NAME:ectopia_lentis_et_pupillae_ectopia_lentis_2_isolated_autosomal_recessive Ectopia lentis et pupillae;Ectopia lentis 2, isolated, autosomal recessive Supplemental_disease_name DISEASE_NAME:ectopic_thyroid Ectopic thyroid Supplemental_disease_name DISEASE_NAME:ectopic_tissue Ectopic tissue Supplemental_disease_name DISEASE_NAME:ectrodactyly Ectrodactyly Supplemental_disease_name DISEASE_NAME:ectrodactyly_and_ectodermal_dysplasia_without_cleft_lip_palate Ectrodactyly and ectodermal dysplasia without cleft lip/palate Supplemental_disease_name DISEASE_NAME:ectrodactyly_ectodermal_dysplasia_and_cleft_lip_palate_syndrome_3_adult_syndrome Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3;ADULT syndrome Supplemental_disease_name DISEASE_NAME:eculizumab_poor_response_to Eculizumab, poor response to Supplemental_disease_name DISEASE_NAME:eculizumab_poor_response_to_complement_component_5_deficiency Eculizumab, poor response to;Complement component 5 deficiency Supplemental_disease_name DISEASE_NAME:eczematoid_dermatitis Eczematoid dermatitis Supplemental_disease_name DISEASE_NAME:eda_related_disorder EDA-related disorder Supplemental_disease_name DISEASE_NAME:edar_related_disorder EDAR-related disorder Supplemental_disease_name DISEASE_NAME:edaradd_related_disorder EDARADD-related disorder Supplemental_disease_name DISEASE_NAME:edc3_related_disorder EDC3-related disorder Supplemental_disease_name DISEASE_NAME:edem3_related_disorder EDEM3-related disorder Supplemental_disease_name DISEASE_NAME:edict_syndrome EDICT syndrome Supplemental_disease_name DISEASE_NAME:edn1_related_disorder EDN1-related disorder Supplemental_disease_name DISEASE_NAME:edn3_related_disorder EDN3-related disorder Supplemental_disease_name DISEASE_NAME:ednra_related_disorder EDNRA-related disorder Supplemental_disease_name DISEASE_NAME:ednrb_related_disorder EDNRB-related disorder Supplemental_disease_name DISEASE_NAME:eed_related_disorder EED-related disorder Supplemental_disease_name DISEASE_NAME:eef1a2_related_developmental_and_degenerative_epileptic_dyskinetic_encephalopathy EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy Supplemental_disease_name DISEASE_NAME:eef1a2_related_disorder EEF1A2-related disorder Supplemental_disease_name DISEASE_NAME:eef1b2_related_condition EEF1B2-related condition Supplemental_disease_name DISEASE_NAME:eef1d_associated_neurodevelopmental_syndrome EEF1D-associated Neurodevelopmental Syndrome Supplemental_disease_name DISEASE_NAME:eef1d_related_disorder EEF1D-related disorder Supplemental_disease_name DISEASE_NAME:eef1d_related_intellectual_disabilities EEF1D-related intellectual disabilities Supplemental_disease_name DISEASE_NAME:eef2_related_disorder EEF2-related disorder Supplemental_disease_name DISEASE_NAME:eef2_related_neurodevelopmental_disorder EEF2-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:eef2_related_neurodevelopmental_disorder_with_multiple_anomalies EEF2-related neurodevelopmental disorder with multiple anomalies Supplemental_disease_name DISEASE_NAME:eeg_abnormality EEG abnormality Supplemental_disease_name DISEASE_NAME:eeg_with_focal_epileptiform_discharges EEG with focal epileptiform discharges Supplemental_disease_name DISEASE_NAME:eem_syndrome_congenital_hypotrichosis_with_juvenile_macular_dystrophy EEM syndrome;Congenital hypotrichosis with juvenile macular dystrophy Supplemental_disease_name DISEASE_NAME:efavirenz_response Efavirenz response Supplemental_disease_name DISEASE_NAME:efavirenz_response_metabolism_pk efavirenz response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:efavirenz_response_toxicity efavirenz response - Toxicity Supplemental_disease_name DISEASE_NAME:efcab13_related_disorder EFCAB13-related disorder Supplemental_disease_name DISEASE_NAME:efcab5_related_disorder EFCAB5-related disorder Supplemental_disease_name DISEASE_NAME:efemp1_related_connective_tissue_condition EFEMP1-related connective tissue condition Supplemental_disease_name DISEASE_NAME:efemp1_related_disorder EFEMP1-related disorder Supplemental_disease_name DISEASE_NAME:efemp2_related_disorder EFEMP2-related disorder Supplemental_disease_name DISEASE_NAME:effort_induced_polymorphic_ventricular_tachycardia Effort-induced polymorphic ventricular tachycardia Supplemental_disease_name DISEASE_NAME:efhc1_related_disorder EFHC1-related disorder Supplemental_disease_name DISEASE_NAME:efl1_related_disorder EFL1-related disorder Supplemental_disease_name DISEASE_NAME:efnb1_related_disorder EFNB1-related disorder Supplemental_disease_name DISEASE_NAME:efnb2_related_disorder EFNB2-related disorder Supplemental_disease_name DISEASE_NAME:efnb2_related_neurodevelopmental_disorder EFNB2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:efr3a_related_disorder EFR3A-related disorder Supplemental_disease_name DISEASE_NAME:eftud2_related_disorder EFTUD2-related disorder Supplemental_disease_name DISEASE_NAME:egf_related_disorder EGF-related disorder Supplemental_disease_name DISEASE_NAME:egfr_related_disorder EGFR-related disorder Supplemental_disease_name DISEASE_NAME:egfr_related_lung_cancer EGFR-related lung cancer Supplemental_disease_name DISEASE_NAME:egln1_related_disorder EGLN1-related disorder Supplemental_disease_name DISEASE_NAME:egln2_related_disorder EGLN2-related disorder Supplemental_disease_name DISEASE_NAME:egr2_related_disorder EGR2-related disorder Supplemental_disease_name DISEASE_NAME:egr3_related_disorder EGR3-related disorder Supplemental_disease_name DISEASE_NAME:ehbp1_related_disorder EHBP1-related disorder Supplemental_disease_name DISEASE_NAME:ehbp1l1_related_disorder EHBP1L1-related disorder Supplemental_disease_name DISEASE_NAME:ehhadh_related_disorder EHHADH-related disorder Supplemental_disease_name DISEASE_NAME:ehlers_danlos_osteogenesis_imperfecta_syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_arthrochalasia_type Ehlers-Danlos syndrome, arthrochalasia type Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_arthrochalasia_type_2_osteogenesis_imperfecta_ehlers_danlos_syndrome_cardiac_valvular_type Ehlers-Danlos syndrome, arthrochalasia type, 2;Osteogenesis imperfecta;Ehlers-Danlos syndrome, cardiac valvular type Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_arthrochalasia_type_2_osteogenesis_imperfecta_with_normal_sclerae_dominant_form_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii_ehlers_danlos_syndrome_cardiac_valvular_type Ehlers-Danlos syndrome, arthrochalasia type, 2;Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III;Ehlers-Danlos syndrome, cardiac valvular type Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_arthrochalasia_type_ehlers_danlos_syndrome_cardiac_valvular_type_osteogenesis_imperfecta Ehlers-Danlos syndrome, arthrochalasia type;Ehlers-Danlos syndrome, cardiac valvular type;Osteogenesis imperfecta Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_arthrochalasia_type_infantile_cortical_hyperostosis_osteogenesis_imperfecta Ehlers-Danlos syndrome, arthrochalasia type;Infantile cortical hyperostosis;Osteogenesis imperfecta Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_arthrochalasia_type_osteogenesis_imperfecta Ehlers-Danlos syndrome, arthrochalasia type;Osteogenesis imperfecta Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_cardiac_valvular_type_ehlers_danlos_syndrome_arthrochalasia_type_2_osteogenesis_imperfecta Ehlers-Danlos syndrome, cardiac valvular type;Ehlers-Danlos syndrome, arthrochalasia type, 2;Osteogenesis imperfecta Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_cardiac_valvular_type_ehlers_danlos_syndrome_arthrochalasia_type_osteogenesis_imperfecta Ehlers-Danlos syndrome, cardiac valvular type;Ehlers-Danlos syndrome, arthrochalasia type;Osteogenesis imperfecta Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_cardiac_valvular_type_ehlers_danlos_syndrome_arthrochalasia_type_osteogenesis_imperfecta_infantile_cortical_hyperostosis Ehlers-Danlos syndrome, cardiac valvular type;Ehlers-Danlos syndrome, arthrochalasia type;Osteogenesis imperfecta;Infantile cortical hyperostosis Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_cardiac_valvular_type_ehlers_danlos_syndrome_arthrochalasia_type_osteogenesis_imperfecta_osteogenesis_imperfecta_recessive Ehlers-Danlos syndrome, cardiac valvular type;Ehlers-Danlos syndrome, arthrochalasia type;Osteogenesis imperfecta;Osteogenesis Imperfecta, Recessive Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_cardiac_valvular_type_ehlers_danlos_syndrome_arthrochalasia_type_osteogenesis_imperfecta_perinatal_lethal Ehlers-Danlos syndrome, cardiac valvular type;Ehlers-Danlos syndrome, arthrochalasia type;Osteogenesis imperfecta, perinatal lethal Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_like_3 Ehlers-Danlos syndrome, classic-like, 3 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type Ehlers-Danlos syndrome, classic type Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_1_ehlers_danlos_syndrome_classic_type_2 Ehlers-Danlos syndrome, classic type, 1;Ehlers-Danlos syndrome, classic type, 2 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_1_fibromuscular_dysplasia_multifocal Ehlers-Danlos syndrome, classic type, 1;Fibromuscular dysplasia, multifocal Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_1_neurodevelopmental_disorder_with_or_without_autism_or_seizures Ehlers-Danlos syndrome, classic type, 1;Neurodevelopmental disorder with or without autism or seizures Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_1_osteogenesis_imperfecta_type_i Ehlers-Danlos syndrome, classic type, 1;Osteogenesis imperfecta type I Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_2_ehlers_danlos_syndrome_classic_type_1 Ehlers-Danlos syndrome, classic type, 2;Ehlers-Danlos syndrome, classic type, 1 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_ehlers_danlos_syndrome_arthrochalasia_type_osteogenesis_imperfecta_combined_osteogenesis_imperfecta_and_ehlers_danlos_syndrome_1 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, arthrochalasia type;Osteogenesis imperfecta;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_ehlers_danlos_syndrome_arthrochalasia_type_osteogenesis_imperfecta_type_i_infantile_cortical_hyperostosis Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, arthrochalasia type;Osteogenesis imperfecta type I;Infantile cortical hyperostosis Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_ehlers_danlos_syndrome_classic_type_1 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, classic type, 1 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_ehlers_danlos_syndrome_classic_type_2 Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, classic type, 2 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_classic_type_osteogenesis_imperfecta_type_i Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_dominant_type_4 Ehlers-Danlos syndrome, dominant type 4 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_due_to_tenascin_x_deficiency Ehlers-Danlos syndrome due to tenascin-X deficiency Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_due_to_tenascin_x_deficiency_vesicoureteral_reflux_8 Ehlers-Danlos syndrome due to tenascin-X deficiency;Vesicoureteral reflux 8 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_musculocontractural_type Ehlers-Danlos syndrome, musculocontractural type Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_nonvascular_variant EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_periodontal_type_2_complement_component_c1s_deficiency Ehlers-Danlos syndrome, periodontal type 2;Complement component C1s deficiency Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_spondylocheirodysplastic_type Ehlers-Danlos syndrome, spondylocheirodysplastic type Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_spondylodysplastic_type_2_spondyloepimetaphyseal_dysplasia_with_joint_laxity Ehlers-Danlos syndrome, spondylodysplastic type, 2;Spondyloepimetaphyseal dysplasia with joint laxity Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_type_3_ehlers_danlos_syndrome_type_4 Ehlers-Danlos syndrome, type 3;Ehlers-Danlos syndrome, type 4 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_type_4_ehlers_danlos_syndrome_type_3 Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 3 Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_type_4_polymicrogyria_with_or_without_vascular_type_ehlers_danlos_syndrome Ehlers-Danlos syndrome, type 4;Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:ehlers_danlos_syndrome_ullrich_congenital_muscular_dystrophy_2_bethlem_myopathy_2 Ehlers-Danlos syndrome;Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 Supplemental_disease_name DISEASE_NAME:ehmt1_related_disorder EHMT1-related disorder Supplemental_disease_name DISEASE_NAME:ehmt2_related_kleefstra_like_syndrome EHMT2-related Kleefstra-like syndrome Supplemental_disease_name DISEASE_NAME:eichsfeld_type_congenital_muscular_dystrophy_congenital_myopathy_with_fiber_type_disproportion Eichsfeld type congenital muscular dystrophy;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:eif2a_related_disorder EIF2A-related disorder Supplemental_disease_name DISEASE_NAME:eif2ak1_related_disorder EIF2AK1-related disorder Supplemental_disease_name DISEASE_NAME:eif2ak2_related_disorder EIF2AK2-related disorder Supplemental_disease_name DISEASE_NAME:eif2ak3_related_disorder EIF2AK3-related disorder Supplemental_disease_name DISEASE_NAME:eif2ak4_related_disorder EIF2AK4-related disorder Supplemental_disease_name DISEASE_NAME:eif2b1_related_disorder EIF2B1-related disorder Supplemental_disease_name DISEASE_NAME:eif2b2_related_disorder EIF2B2-related disorder Supplemental_disease_name DISEASE_NAME:eif2b3_related_disorder EIF2B3-related disorder Supplemental_disease_name DISEASE_NAME:eif2b4_related_disorder EIF2B4-related disorder Supplemental_disease_name DISEASE_NAME:eif2b5_related_disorder EIF2B5-related disorder Supplemental_disease_name DISEASE_NAME:eif2s3_related_disorder EIF2S3-related disorder Supplemental_disease_name DISEASE_NAME:eif3b_related_disorder EIF3B-related disorder Supplemental_disease_name DISEASE_NAME:eif3f_related_disorder EIF3F-related disorder Supplemental_disease_name DISEASE_NAME:eif3g_related_autism_spectrum_disorder EIF3G-related autism spectrum disorder Supplemental_disease_name DISEASE_NAME:eif3k_related_disorder EIF3K related disorder Supplemental_disease_name DISEASE_NAME:eif4a2_related_disorder EIF4A2-related disorder Supplemental_disease_name DISEASE_NAME:eif4a2_related_neurodevelopmental_syndrome EIF4A2-related Neurodevelopmental Syndrome Supplemental_disease_name DISEASE_NAME:eif4a3_related_disorder EIF4A3-related disorder Supplemental_disease_name DISEASE_NAME:eif4e_related_disorder EIF4E-related disorder Supplemental_disease_name DISEASE_NAME:eif4g1_related_disorder EIF4G1-related disorder Supplemental_disease_name DISEASE_NAME:eif5a_related_disorder EIF5A-related disorder Supplemental_disease_name DISEASE_NAME:eiken_syndrome_chondrodysplasia_blomstrand_type Eiken syndrome;Chondrodysplasia Blomstrand type Supplemental_disease_name DISEASE_NAME:eiken_syndrome_chondrodysplasia_blomstrand_type_metaphyseal_chondrodysplasia_jansen_type_primary_failure_of_tooth_eruption Eiken syndrome;Chondrodysplasia Blomstrand type;Metaphyseal chondrodysplasia, Jansen type;Primary failure of tooth eruption Supplemental_disease_name DISEASE_NAME:eiken_syndrome_metaphyseal_chondrodysplasia_jansen_type_chondrodysplasia_blomstrand_type_primary_failure_of_tooth_eruption Eiken syndrome;Metaphyseal chondrodysplasia, Jansen type;Chondrodysplasia Blomstrand type;Primary failure of tooth eruption Supplemental_disease_name DISEASE_NAME:eiken_syndrome_metaphyseal_chondrodysplasia_jansen_type_primary_failure_of_tooth_eruption_chondrodysplasia_blomstrand_type Eiken syndrome;Metaphyseal chondrodysplasia, Jansen type;Primary failure of tooth eruption;Chondrodysplasia Blomstrand type Supplemental_disease_name DISEASE_NAME:el_hayek_chahrour_neurodevelopmental_disorder El Hayek-Chahrour neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:elac2_related_disorder ELAC2-related disorder Supplemental_disease_name DISEASE_NAME:elane_related_disorder ELANE-related disorder Supplemental_disease_name DISEASE_NAME:elavl2_related_disorder ELAVL2-related disorder Supplemental_disease_name DISEASE_NAME:elevated_basal_serum_calcitonin Elevated basal serum calcitonin Supplemental_disease_name DISEASE_NAME:elevated_circulating_7_dehydrocholesterol_concentration_small_for_gestational_age_2_3_toe_syndactyly_primary_microcephaly Elevated circulating 7-dehydrocholesterol concentration;Small for gestational age;2-3 toe syndactyly;Primary microcephaly Supplemental_disease_name DISEASE_NAME:elevated_circulating_alkaline_phosphatase_concentration Elevated circulating alkaline phosphatase concentration Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity Elevated circulating creatine kinase activity Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity_achilles_tendon_contracture_lower_limb_amyotrophy_lower_limb_muscle_weakness_polycystic_kidney_disease Elevated circulating creatine kinase activity;Achilles tendon contracture;Lower limb amyotrophy;Lower limb muscle weakness;Polycystic kidney disease Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity_atrial_septal_defect Elevated circulating creatine kinase activity;Atrial septal defect Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity_distal_lower_limb_amyotrophy_lower_limb_muscle_weakness Elevated circulating creatine kinase activity;Distal lower limb amyotrophy;Lower limb muscle weakness Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity_distal_myopathy_tateyama_type_long_qt_syndrome_9_rippling_muscle_disease_2_hypertrophic_cardiomyopathy_1 Elevated circulating creatine kinase activity;Distal myopathy, Tateyama type;Long QT syndrome 9;Rippling muscle disease 2;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity_fatty_replacement_of_skeletal_muscle_distal_muscle_weakness Elevated circulating creatine kinase activity;Fatty replacement of skeletal muscle;Distal muscle weakness Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity_myalgia_exercise_induced_myalgia Elevated circulating creatine kinase activity;Myalgia;Exercise-induced myalgia Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity_progressive_proximal_muscle_weakness Elevated circulating creatine kinase activity;Progressive proximal muscle weakness Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity_rippling_muscle_disease_2_long_qt_syndrome_9_distal_myopathy_tateyama_type_hypertrophic_cardiomyopathy_1 Elevated circulating creatine kinase activity;Rippling muscle disease 2;Long QT syndrome 9;Distal myopathy, Tateyama type;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:elevated_circulating_creatine_kinase_activity_sensory_neuropathy_peripheral_axonal_neuropathy_elevated_circulating_alkaline_phosphatase_concentration_polyneuropathy Elevated circulating creatine kinase activity;Sensory neuropathy;Peripheral axonal neuropathy;Elevated circulating alkaline phosphatase concentration;Polyneuropathy Supplemental_disease_name DISEASE_NAME:elevated_serum_creatine_phosphokinase Elevated serum creatine phosphokinase Supplemental_disease_name DISEASE_NAME:elevated_urinary_delta_aminolevulinic_acid_acute_episodes_of_neuropathic_symptoms_anxiety_abdominal_pain Elevated urinary delta-aminolevulinic acid;Acute episodes of neuropathic symptoms;Anxiety;Abdominal pain Supplemental_disease_name DISEASE_NAME:elf4_related_disorder ELF4-related disorder Supplemental_disease_name DISEASE_NAME:elfn1_related_disorder ELFN1-related disorder Supplemental_disease_name DISEASE_NAME:elliptocytosis Elliptocytosis Supplemental_disease_name DISEASE_NAME:elliptocytosis_1 Elliptocytosis 1 Supplemental_disease_name DISEASE_NAME:elliptocytosis_2 Elliptocytosis 2 Supplemental_disease_name DISEASE_NAME:elliptocytosis_2_hereditary_spherocytosis_type_2 Elliptocytosis 2;Hereditary spherocytosis type 2 Supplemental_disease_name DISEASE_NAME:elliptocytosis_2_pyropoikilocytosis_hereditary_hereditary_spherocytosis_type_3 Elliptocytosis 2;Pyropoikilocytosis, hereditary;Hereditary spherocytosis type 3 Supplemental_disease_name DISEASE_NAME:elliptocytosis_3 Elliptocytosis 3 Supplemental_disease_name DISEASE_NAME:elliptocytosis_3_hereditary_spherocytosis_type_2 Elliptocytosis 3;Hereditary spherocytosis type 2 Supplemental_disease_name DISEASE_NAME:elliptocytosis_3_spherocytosis_hereditary_spherocytosis Elliptocytosis 3;Spherocytosis;Hereditary spherocytosis Supplemental_disease_name DISEASE_NAME:ellis_van_creveld_syndrome_curry_hall_syndrome Ellis-van Creveld syndrome;Curry-Hall syndrome Supplemental_disease_name DISEASE_NAME:elmo2_related_disorder ELMO2-related disorder Supplemental_disease_name DISEASE_NAME:elmod2_related_disorder ELMOD2-related disorder Supplemental_disease_name DISEASE_NAME:elmod3_related_disorder ELMOD3-related disorder Supplemental_disease_name DISEASE_NAME:eln_related_disorder ELN-related disorder Supplemental_disease_name DISEASE_NAME:eloa3p_related_condition ELOA3P-related condition Supplemental_disease_name DISEASE_NAME:elovl1_related_disorder ELOVL1-related disorder Supplemental_disease_name DISEASE_NAME:elovl4_related_ataxia ELOVL4-related ataxia Supplemental_disease_name DISEASE_NAME:elovl4_related_disorder ELOVL4-related disorder Supplemental_disease_name DISEASE_NAME:elovl5_related_disorder ELOVL5-related disorder Supplemental_disease_name DISEASE_NAME:elp1_associated_medulloblastoma ELP1-Associated Medulloblastoma Supplemental_disease_name DISEASE_NAME:elp1_related_disorder ELP1-related disorder Supplemental_disease_name DISEASE_NAME:elp2_related_disorder ELP2-related disorder Supplemental_disease_name DISEASE_NAME:elp4_related_disorder ELP4-related disorder Supplemental_disease_name DISEASE_NAME:emc10_related_disorder EMC10-related disorder Supplemental_disease_name DISEASE_NAME:emc1_related_disorder EMC1-related disorder Supplemental_disease_name DISEASE_NAME:emd_related_disorder EMD-related disorder Supplemental_disease_name DISEASE_NAME:emery_dreifuss_muscular_dystrophy_2_autosomal_dominant_congenital_muscular_dystrophy_due_to_lmna_mutation Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Congenital muscular dystrophy due to LMNA mutation Supplemental_disease_name DISEASE_NAME:emery_dreifuss_muscular_dystrophy_3_autosomal_recessive_charcot_marie_tooth_disease_type_2b1_mandibuloacral_dysplasia_with_type_a_lipodystrophy Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Charcot-Marie-Tooth disease type 2B1;Mandibuloacral dysplasia with type A lipodystrophy Supplemental_disease_name DISEASE_NAME:emery_dreifuss_muscular_dystrophy_4_autosomal_dominant_arthrogryposis_multiplex_congenita_3_myogenic_type_autosomal_recessive_ataxia_beauce_type Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Arthrogryposis multiplex congenita 3, myogenic type;Autosomal recessive ataxia, Beauce type Supplemental_disease_name DISEASE_NAME:emery_dreifuss_muscular_dystrophy_4_autosomal_dominant_autosomal_recessive_ataxia_beauce_type Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type Supplemental_disease_name DISEASE_NAME:emery_dreifuss_muscular_dystrophy_4_autosomal_dominant_autosomal_recessive_ataxia_beauce_type_arthrogryposis_multiplex_congenita_3_myogenic_type Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type;Arthrogryposis multiplex congenita 3, myogenic type Supplemental_disease_name DISEASE_NAME:emery_dreifuss_muscular_dystrophy_4_autosomal_dominant_autosomal_recessive_myogenic_arthrogryposis_multiplex_congenita_autosomal_recessive_ataxia_beauce_type Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive myogenic arthrogryposis multiplex congenita;Autosomal recessive ataxia, Beauce type Supplemental_disease_name DISEASE_NAME:emery_dreifuss_muscular_dystrophy_6 Emery-Dreifuss muscular dystrophy 6 Supplemental_disease_name DISEASE_NAME:emery_dreifuss_muscular_dystrophy_7_autosomal_dominant_arrhythmogenic_right_ventricular_dysplasia_5_auditory_neuropathy_autosomal_dominant_3 Emery-Dreifuss muscular dystrophy 7, autosomal dominant;Arrhythmogenic right ventricular dysplasia 5;Auditory neuropathy, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:emery_dreifuss_muscular_dystrophy_7_autosomal_dominant_auditory_neuropathy_autosomal_dominant_3_arrhythmogenic_right_ventricular_dysplasia_5 Emery-Dreifuss muscular dystrophy 7, autosomal dominant;Auditory neuropathy, autosomal dominant 3;Arrhythmogenic right ventricular dysplasia 5 Supplemental_disease_name DISEASE_NAME:emg1_related_disorder EMG1-related disorder Supplemental_disease_name DISEASE_NAME:emg_abnormality_clubfoot_lower_limb_amyotrophy EMG abnormality;Clubfoot;Lower limb amyotrophy Supplemental_disease_name DISEASE_NAME:emg_abnormality_emg_myotonic_runs EMG abnormality;EMG: myotonic runs Supplemental_disease_name DISEASE_NAME:emg_abnormality_pain_joint_laxity_emg_myopathic_abnormalities EMG abnormality;Pain;Joint laxity;EMG: myopathic abnormalities Supplemental_disease_name DISEASE_NAME:emg_axonal_abnormality_distal_muscle_weakness_vitiligo_emg_abnormality EMG: axonal abnormality;Distal muscle weakness;Vitiligo;EMG abnormality Supplemental_disease_name DISEASE_NAME:emg_myopathic_abnormalities_myopathy EMG: myopathic abnormalities;Myopathy Supplemental_disease_name DISEASE_NAME:emg_myopathic_abnormalities_shoulder_girdle_muscle_weakness EMG: myopathic abnormalities;Shoulder girdle muscle weakness Supplemental_disease_name DISEASE_NAME:emg_myotonic_discharges_myotonia EMG: myotonic discharges;Myotonia Supplemental_disease_name DISEASE_NAME:emg_neuropathic_changes_limb_muscle_weakness_tremor EMG: neuropathic changes;Limb muscle weakness;Tremor Supplemental_disease_name DISEASE_NAME:emilin1_related_disorder EMILIN1-related disorder Supplemental_disease_name DISEASE_NAME:emilin_1_related_connective_tissue_disease EMILIN-1-related connective tissue disease Supplemental_disease_name DISEASE_NAME:eml1_related_disorder EML1-related disorder Supplemental_disease_name DISEASE_NAME:eml4_related_disorder EML4-related disorder Supplemental_disease_name DISEASE_NAME:emm_null_phenotype Emm-null phenotype Supplemental_disease_name DISEASE_NAME:emp2_related_disorder EMP2-related disorder Supplemental_disease_name DISEASE_NAME:empty_follicle_syndrome Empty follicle syndrome Supplemental_disease_name DISEASE_NAME:empty_ovarian_follicle Empty ovarian follicle Supplemental_disease_name DISEASE_NAME:emsy_related_disorder EMSY-related disorder Supplemental_disease_name DISEASE_NAME:emx2_related_disorder EMX2-related disorder Supplemental_disease_name DISEASE_NAME:en1_related_disorder EN1-related disorder Supplemental_disease_name DISEASE_NAME:en1_syndrome EN1 syndrome Supplemental_disease_name DISEASE_NAME:enam_related_disorder ENAM-related disorder Supplemental_disease_name DISEASE_NAME:enc1_related_disorder ENC1-related disorder Supplemental_disease_name DISEASE_NAME:encephalitis_acute_infection_induced_susceptibility_to_12 Encephalitis, acute, infection-induced, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:encephalitis_acute_infection_viral_induced_susceptibility_to_11 Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 Supplemental_disease_name DISEASE_NAME:encephalitis_encephalopathy_mild_with_reversible_myelin_vacuolization Encephalitis/encephalopathy, mild, with reversible myelin vacuolization Supplemental_disease_name DISEASE_NAME:encephalitis_encephalopathy_mild_with_reversible_myelin_vacuolization_cardiac_urogenital_syndrome Encephalitis/encephalopathy, mild, with reversible myelin vacuolization;Cardiac-urogenital syndrome Supplemental_disease_name DISEASE_NAME:encephalocardiomyopathy_mitochondrial ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL Supplemental_disease_name DISEASE_NAME:encephalocele_severe_hydrocephalus_polycystic_kidney_disease Encephalocele;Severe hydrocephalus;Polycystic kidney disease Supplemental_disease_name DISEASE_NAME:encephalocraniocutaneous_lipomatosis Encephalocraniocutaneous lipomatosis Supplemental_disease_name DISEASE_NAME:encephalocraniocutaneous_lipomatosis_pfeiffer_syndrome Encephalocraniocutaneous lipomatosis;Pfeiffer syndrome Supplemental_disease_name DISEASE_NAME:encephalomyopathy_with_respiratory_failure_and_lactic_acidosis Encephalomyopathy with respiratory failure and lactic acidosis Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_10 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_7 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_8 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_8_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_4 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8;Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_susceptibility_to_4 Encephalopathy, acute, infection-induced, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_susceptibility_to_4_carnitine_palmitoyl_transferase_ii_deficiency_severe_infantile_form_carnitine_palmitoyl_transferase_ii_deficiency_neonatal_form_carnitine_palmitoyl_transferase_ii_deficiency_myopathic_form Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, myopathic form Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_susceptibility_to_9 Encephalopathy, acute, infection-induced, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_infection_induced_susceptibility_to_9_acute_lymphoid_leukemia_acute_myeloid_leukemia Encephalopathy, acute, infection-induced, susceptibility to, 9;Acute lymphoid leukemia;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:encephalopathy_acute_transient Encephalopathy, acute transient Supplemental_disease_name DISEASE_NAME:encephalopathy_due_to_beta_mercaptolactate_cysteine_disulfiduria Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria Supplemental_disease_name DISEASE_NAME:encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2 Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2 Supplemental_disease_name DISEASE_NAME:encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2_epilepsy_idiopathic_generalized_susceptibility_to_12_hereditary_cryohydrocytosis_with_reduced_stomatin_dystonia_9 Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Epilepsy, idiopathic generalized, susceptibility to, 12;Hereditary cryohydrocytosis with reduced stomatin;Dystonia 9 Supplemental_disease_name DISEASE_NAME:encephalopathy_due_to_glut1_deficiency_dystonia_9 Encephalopathy due to GLUT1 deficiency;Dystonia 9 Supplemental_disease_name DISEASE_NAME:encephalopathy_due_to_glut1_deficiency_epilepsy_idiopathic_generalized_susceptibility_to_12 Encephalopathy due to GLUT1 deficiency;Epilepsy, idiopathic generalized, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:encephalopathy_due_to_glut1_deficiency_hereditary_cryohydrocytosis_with_reduced_stomatin_dystonia_9_childhood_onset_glut1_deficiency_syndrome_2_epilepsy_idiopathic_generalized_susceptibility_to_12 Encephalopathy due to GLUT1 deficiency;Hereditary cryohydrocytosis with reduced stomatin;Dystonia 9;Childhood onset GLUT1 deficiency syndrome 2;Epilepsy, idiopathic generalized, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:encephalopathy_due_to_mitochondrial_and_peroxisomal_fission_defect Encephalopathy due to mitochondrial and peroxisomal fission defect Supplemental_disease_name DISEASE_NAME:encephalopathy_familial_progressive_necrotizing Encephalopathy, familial progressive necrotizing Supplemental_disease_name DISEASE_NAME:encephalopathy_il10_related_early_onset_inflammatory_bowel_disease Encephalopathy;IL10-related early-onset inflammatory bowel disease Supplemental_disease_name DISEASE_NAME:encephalopathy_lethal_due_to_defective_mitochondrial_peroxisomal_fission_1 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Supplemental_disease_name DISEASE_NAME:encephalopathy_lethal_due_to_defective_mitochondrial_peroxisomal_fission_1_optic_atrophy_5 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1;Optic atrophy 5 Supplemental_disease_name DISEASE_NAME:encephalopathy_neonatal_severe_with_lactic_acidosis_and_brain_abnormalities Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities Supplemental_disease_name DISEASE_NAME:encephalopathy_neonatal_severemental_retardation_x_linked_syndromic_13rett_syndrome Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome Supplemental_disease_name DISEASE_NAME:encephalopathy_porphyria_related Encephalopathy, porphyria-related Supplemental_disease_name DISEASE_NAME:encephalopathy_progressive_early_onset_with_brain_edema_and_or_leukoencephalopathy Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy Supplemental_disease_name DISEASE_NAME:encephalopathy_progressive_early_onset_with_brain_edema_and_or_leukoencephalopathy_1 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 Supplemental_disease_name DISEASE_NAME:encephalopathy_progressive_early_onset_with_episodic_rhabdomyolysis Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis Supplemental_disease_name DISEASE_NAME:encephalopathy_progressive_with_amyotrophy_and_optic_atrophy Encephalopathy, progressive, with amyotrophy and optic atrophy Supplemental_disease_name DISEASE_NAME:encephalopathy_progressive_with_amyotrophy_and_optic_atrophy_autosomal_recessive_kenny_caffey_syndrome_hypoparathyroidism_retardation_dysmorphism_syndrome Encephalopathy, progressive, with amyotrophy and optic atrophy;Autosomal recessive Kenny-Caffey syndrome;Hypoparathyroidism-retardation-dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:encephalopathy_progressive_with_amyotrophy_and_optic_atrophy_hypoparathyroidism_retardation_dysmorphism_syndrome_autosomal_recessive_kenny_caffey_syndrome Encephalopathy, progressive, with amyotrophy and optic atrophy;Hypoparathyroidism-retardation-dysmorphism syndrome;Autosomal recessive Kenny-Caffey syndrome Supplemental_disease_name DISEASE_NAME:enchondromatosis Enchondromatosis Supplemental_disease_name DISEASE_NAME:enchondromatosis_maffucci_syndrome Enchondromatosis;Maffucci syndrome Supplemental_disease_name DISEASE_NAME:end_stage_retinitis_pigmentosa End-stage retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:endocrine_pancreas_disorder Endocrine pancreas disorder Supplemental_disease_name DISEASE_NAME:endometrial_cancer_carcinoma Endometrial cancer/carcinoma Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_blepharocheilodontic_syndrome_1_ovarian_cancer_hereditary_diffuse_gastric_adenocarcinoma_familial_cancer_of_breast Endometrial carcinoma;Blepharocheilodontic syndrome 1;Ovarian cancer;Hereditary diffuse gastric adenocarcinoma;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_colorectal_cancer_colorectal_cancer_hereditary_nonpolyposis_type_7 Endometrial carcinoma;Colorectal cancer;Colorectal cancer, hereditary nonpolyposis, type 7 Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_colorectal_cancer_hereditary_nonpolyposis_type_7 Endometrial carcinoma;Colorectal cancer, hereditary nonpolyposis, type 7 Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_colorectal_cancer_hereditary_nonpolyposis_type_7_colorectal_cancer Endometrial carcinoma;Colorectal cancer, hereditary nonpolyposis, type 7;Colorectal cancer Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_familial_adenomatous_polyposis_4 Endometrial carcinoma;Familial adenomatous polyposis 4 Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_familial_cancer_of_breast_colorectal_cancer Endometrial carcinoma;Familial cancer of breast;Colorectal cancer Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_familial_cancer_of_breast_hereditary_diffuse_gastric_adenocarcinoma_blepharocheilodontic_syndrome_1_ovarian_cancer Endometrial carcinoma;Familial cancer of breast;Hereditary diffuse gastric adenocarcinoma;Blepharocheilodontic syndrome 1;Ovarian cancer Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_hereditary_diffuse_gastric_adenocarcinoma_familial_cancer_of_breast_ovarian_cancer_blepharocheilodontic_syndrome_1 Endometrial carcinoma;Hereditary diffuse gastric adenocarcinoma;Familial cancer of breast;Ovarian cancer;Blepharocheilodontic syndrome 1 Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_lynch_syndrome_5 Endometrial carcinoma;Lynch syndrome 5 Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_lynch_syndrome_5_mismatch_repair_cancer_syndrome_1 Endometrial carcinoma;Lynch syndrome 5;Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_lynch_syndrome_5_mismatch_repair_cancer_syndrome_3 Endometrial carcinoma;Lynch syndrome 5;Mismatch repair cancer syndrome 3 Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_mismatch_repair_cancer_syndrome_1_lynch_syndrome_5 Endometrial carcinoma;Mismatch repair cancer syndrome 1;Lynch syndrome 5 Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_mismatch_repair_cancer_syndrome_3_lynch_syndrome_5 Endometrial carcinoma;Mismatch repair cancer syndrome 3;Lynch syndrome 5 Supplemental_disease_name DISEASE_NAME:endometrial_carcinoma_ovarian_cancer_hereditary_diffuse_gastric_adenocarcinoma_blepharocheilodontic_syndrome_1_familial_cancer_of_breast Endometrial carcinoma;Ovarian cancer;Hereditary diffuse gastric adenocarcinoma;Blepharocheilodontic syndrome 1;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:endometrial_hyperplasia_without_atypia_endometrial_carcinoma_atypical_endometrial_hyperplasia Endometrial hyperplasia without atypia;Endometrial carcinoma;Atypical endometrial hyperplasia Supplemental_disease_name DISEASE_NAME:endometrioid_adenocarcinoma Endometrioid adenocarcinoma Supplemental_disease_name DISEASE_NAME:endove_syndrome_limb_brain_type ENDOVE syndrome, limb-brain type Supplemental_disease_name DISEASE_NAME:endove_syndrome_limb_only_type ENDOVE syndrome, limb-only type Supplemental_disease_name DISEASE_NAME:endoves_en1_associated_dorsoventral_syndrome ENDOVES (EN1-associated dorsoventral syndrome) Supplemental_disease_name DISEASE_NAME:enflurane_response_toxicity enflurane response - Toxicity Supplemental_disease_name DISEASE_NAME:eng_related_disorder ENG-related disorder Supplemental_disease_name DISEASE_NAME:enhanced_s_cone_syndrome_1_retinitis_pigmentosa_37 ENHANCED S-CONE SYNDROME 1;Retinitis pigmentosa 37 Supplemental_disease_name DISEASE_NAME:enhanced_s_cone_syndrome_nr2e3_related_disorder Enhanced S-cone syndrome;NR2E3-related disorder Supplemental_disease_name DISEASE_NAME:enhanced_s_cone_syndrome_retinitis_pigmentosa_37 Enhanced S-cone syndrome;Retinitis pigmentosa 37 Supplemental_disease_name DISEASE_NAME:enhancement_of_the_c_reflex Enhancement of the C-reflex Supplemental_disease_name DISEASE_NAME:enlarged_kidney_hyperechogenic_kidneys_anhydramnios Enlarged kidney;Hyperechogenic kidneys;Anhydramnios Supplemental_disease_name DISEASE_NAME:enlarged_kidney_hyperechogenic_kidneys_multiple_renal_cysts_anhydramnios Enlarged kidney;Hyperechogenic kidneys;Multiple renal cysts;Anhydramnios Supplemental_disease_name DISEASE_NAME:enlarged_kidney_multiple_renal_cysts_anhydramnios Enlarged kidney;Multiple renal cysts;Anhydramnios Supplemental_disease_name DISEASE_NAME:enlarged_kidney_polycystic_kidney_disease_hemangioma Enlarged kidney;Polycystic kidney disease;Hemangioma Supplemental_disease_name DISEASE_NAME:enlarged_pulmonary_artery_omphalocele ENLARGED PULMONARY ARTERY, OMPHALOCELE Supplemental_disease_name DISEASE_NAME:eno2_related_disorder ENO2-related disorder Supplemental_disease_name DISEASE_NAME:eno3_related_disorder ENO3-related disorder Supplemental_disease_name DISEASE_NAME:enpp1_related_disorder ENPP1-related disorder Supplemental_disease_name DISEASE_NAME:entpd1_related_disorder ENTPD1-related disorder Supplemental_disease_name DISEASE_NAME:entrectinib_resistance Entrectinib resistance Supplemental_disease_name DISEASE_NAME:entrectinib_resistance_cabozantinib_resistance_repotrectinib_resistance_selitrectinib_resistance_larotrectinib_resistance Entrectinib resistance;Cabozantinib resistance;Repotrectinib resistance;Selitrectinib resistance;Larotrectinib resistance Supplemental_disease_name DISEASE_NAME:enzyme_activity_finding Enzyme activity finding Supplemental_disease_name DISEASE_NAME:eogt_related_disorder EOGT-related disorder Supplemental_disease_name DISEASE_NAME:eomes_related_disorder EOMES-related disorder Supplemental_disease_name DISEASE_NAME:eosinophil_peroxidase_deficiency Eosinophil peroxidase deficiency Supplemental_disease_name DISEASE_NAME:ep300_related_disorder EP300-related disorder Supplemental_disease_name DISEASE_NAME:ep400_associated_neurodevelopmental_disorder EP400-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ep400_related_disorder EP400-related disorder Supplemental_disease_name DISEASE_NAME:epas1_related_disorder EPAS1-related disorder Supplemental_disease_name DISEASE_NAME:epb41_related_disorder EPB41-related disorder Supplemental_disease_name DISEASE_NAME:epb41l1_related_disorder EPB41L1-related disorder Supplemental_disease_name DISEASE_NAME:epb42_related_disorder EPB42-related disorder Supplemental_disease_name DISEASE_NAME:epcam_related_disorder EPCAM-related disorder Supplemental_disease_name DISEASE_NAME:ependymoma Ependymoma Supplemental_disease_name DISEASE_NAME:epg5_related_disorder EPG5-related disorder Supplemental_disease_name DISEASE_NAME:epha2_related_disorder EPHA2-related disorder Supplemental_disease_name DISEASE_NAME:epha3_related_disorder EPHA3-related disorder Supplemental_disease_name DISEASE_NAME:epha4_related_disorder EPHA4-related disorder Supplemental_disease_name DISEASE_NAME:ephb2_related_disorder EPHB2-related disorder Supplemental_disease_name DISEASE_NAME:ephb4_associated_vascular_malformation_spectrum EPHB4-associated vascular malformation spectrum Supplemental_disease_name DISEASE_NAME:ephb4_related_disorder EPHB4-related disorder Supplemental_disease_name DISEASE_NAME:ephx1_related_disorder EPHX1-related disorder Supplemental_disease_name DISEASE_NAME:ephx2_related_disorder EPHX2-related disorder Supplemental_disease_name DISEASE_NAME:epicanthus Epicanthus Supplemental_disease_name DISEASE_NAME:epicanthus_abnormal_earlobe_morphology_ventriculomegaly_depressed_nasal_bridge_seizure Epicanthus;Abnormal earlobe morphology;Ventriculomegaly;Depressed nasal bridge;Seizure Supplemental_disease_name DISEASE_NAME:epicanthus_moderate_intellectual_disability_abnormal_facial_shape_autistic_behavior_seizure Epicanthus;Moderate intellectual disability;Abnormal facial shape;Autistic behavior;Seizure Supplemental_disease_name DISEASE_NAME:epidermal_disease Epidermal disease Supplemental_disease_name DISEASE_NAME:epidermal_nevus_large_congenital_melanocytic_nevus Epidermal nevus;Large congenital melanocytic nevus Supplemental_disease_name DISEASE_NAME:epidermal_nevus_with_urothelial_cancer_somatic EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC Supplemental_disease_name DISEASE_NAME:epidermodysplasia_verruciformis_susceptibility_to_1 Epidermodysplasia verruciformis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:epidermodysplasia_verruciformis_susceptibility_to_2 Epidermodysplasia verruciformis, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:epidermodysplasia_verruciformis_susceptibility_to_3 Epidermodysplasia verruciformis, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:epidermodysplasia_verruciformis_susceptibility_to_4 Epidermodysplasia verruciformis, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:epidermodysplasia_verruciformis_susceptibility_to_5 Epidermodysplasia verruciformis, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:epidermodysplasia_verruciformis_susceptibility_to_6 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 6 Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_dystrophica_autosomal_recessive_localisata_variant Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_dystrophica_inversa_autosomal_recessive Epidermolysis bullosa dystrophica inversa, autosomal recessive Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_2a_intermediate Epidermolysis bullosa, junctional 2A, intermediate Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_2a_intermediate_epidermolysis_bullosa_junctional_2b_severe_laryngo_onycho_cutaneous_syndrome Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe;Laryngo-onycho-cutaneous syndrome Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_2a_intermediate_laryngo_onycho_cutaneous_syndrome_epidermolysis_bullosa_junctional_2b_severe Epidermolysis bullosa, junctional 2A, intermediate;Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2B, severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_2b_severe Epidermolysis bullosa, junctional 2B, severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_2b_severe_epidermolysis_bullosa_junctional_2a_intermediate_laryngo_onycho_cutaneous_syndrome Epidermolysis bullosa, junctional 2B, severe;Epidermolysis bullosa, junctional 2A, intermediate;Laryngo-onycho-cutaneous syndrome Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_3a_intermediate Epidermolysis bullosa, junctional 3A, intermediate Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_3a_intermediate_epidermolysis_bullosa_junctional_3b_severe Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_3b_severe Epidermolysis bullosa, junctional 3B, severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_3b_severe_epidermolysis_bullosa_junctional_3a_intermediate Epidermolysis bullosa, junctional 3B, severe;Epidermolysis bullosa, junctional 3A, intermediate Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_3b_severe_epidermolysis_bullosa_junctional_3a_intermediate_junctional_epidermolysis_bullosa_gravis_of_herlitz Epidermolysis bullosa, junctional 3B, severe;Epidermolysis bullosa, junctional 3A, intermediate;Junctional epidermolysis bullosa gravis of Herlitz Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_3b_severe_junctional_epidermolysis_bullosa_gravis_of_herlitz_epidermolysis_bullosa_junctional_3a_intermediate Epidermolysis bullosa, junctional 3B, severe;Junctional epidermolysis bullosa gravis of Herlitz;Epidermolysis bullosa, junctional 3A, intermediate Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_4_intermediate Epidermolysis bullosa, junctional 4, intermediate Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_4_intermediate_epithelial_recurrent_erosion_dystrophy Epidermolysis bullosa, junctional 4, intermediate;Epithelial recurrent erosion dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_5a_intermediate Epidermolysis bullosa, junctional 5A, intermediate Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_5a_intermediate_junctional_epidermolysis_bullosa_with_pyloric_atresia Epidermolysis bullosa, junctional 5A, intermediate;Junctional epidermolysis bullosa with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_6_with_pyloric_atresia Epidermolysis bullosa, junctional 6, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_7_with_interstitial_lung_disease_and_nephrotic_syndrome Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_pretibial_autosomal_recessive Epidermolysis bullosa, pretibial, autosomal recessive Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_pruriginosa Epidermolysis bullosa pruriginosa Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_pruriginosa_autosomal_dominant Epidermolysis bullosa pruriginosa, autosomal dominant Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_pruriginosa_autosomal_recessive Epidermolysis bullosa pruriginosa, autosomal recessive Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_pruriginosa_pretibial_dystrophic_epidermolysis_bullosa_recessive_dystrophic_epidermolysis_bullosa_nonsyndromic_congenital_nail_disorder_8_transient_bullous_dermolysis_of_the_newborn Epidermolysis bullosa pruriginosa;Pretibial dystrophic epidermolysis bullosa;Recessive dystrophic epidermolysis bullosa;Nonsyndromic congenital nail disorder 8;Transient bullous dermolysis of the newborn Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_1a_generalized_severe Epidermolysis bullosa simplex 1A, generalized severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_1c_localized Epidermolysis bullosa simplex 1C, localized Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_1c_localized_junctional_epidermolysis_bullosa_non_herlitz_type_junctional_epidermolysis_bullosa_with_pyloric_atresia Epidermolysis bullosa simplex 1C, localized;Junctional epidermolysis bullosa, non-Herlitz type;Junctional epidermolysis bullosa with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_1d_generalized_intermediate_or_severe_autosomal_recessive Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_1d_generalized_intermediate_or_severe_autosomal_recessive_epidermolysis_bullosa_simplex_koebner_type_epidermolysis_bullosa_simplex_1c_localized_epidermolysis_bullosa_simplex_1a_generalized_severe Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex 1C, localized;Epidermolysis bullosa simplex 1A, generalized severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_2a_generalized_severe Epidermolysis bullosa simplex 2A, generalized severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_2a_generalized_severe_epidermolysis_bullosa_simplex_2b_generalized_intermediate_epidermolysis_bullosa_simplex_2c_localized Epidermolysis bullosa simplex 2A, generalized severe;Epidermolysis bullosa simplex 2B, generalized intermediate;Epidermolysis bullosa simplex 2C, localized Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_2b_generalized_intermediate Epidermolysis bullosa simplex 2B, generalized intermediate Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_2c_localized Epidermolysis bullosa simplex 2C, localized Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_2c_localized_modifier_of Epidermolysis bullosa simplex 2C, localized, modifier of Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_2d_generalized_intermediate_autosomal_recessive EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_2d_generalized_intermediate_or_severe_autosomal_recessive Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_2d_generalized_severe_autosomal_recessive EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_3_localized_or_generalized_intermediate_with_bp230_deficiency Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_3_localized_or_generalized_intermediate_with_bp230_deficiency_hereditary_sensory_and_autonomic_neuropathy_type_6 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6 Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_4_localized_or_generalized_intermediate_autosomal_recessive Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_junctional_epidermolysis_bullosa_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5B, with muscular dystrophy;Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_6_generalized_with_scarring_and_hair_loss Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_7_with_nephropathy_and_deafness Epidermolysis bullosa simplex 7, with nephropathy and deafness Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_7_with_nephropathy_and_deafness_raph_blood_group_system Epidermolysis bullosa simplex 7, with nephropathy and deafness;RAPH BLOOD GROUP SYSTEM Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_due_to_plakophilin_deficiency Epidermolysis bullosa simplex due to plakophilin deficiency Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_koebner_type_epidermolysis_bullosa_simplex_1a_generalized_severe Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex 1A, generalized severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_migratory_circinate_erythema Epidermolysis bullosa simplex with migratory circinate erythema Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy Epidermolysis bullosa simplex with nail dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex with nail dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_simplex_with_nail_dystrophy_epidermolysis_bullosa_simplex_ogna_type_epidermolysis_bullosa_simplex_5c_with_pyloric_atresia_epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2q Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q Supplemental_disease_name DISEASE_NAME:epidermolytic_hyperkeratosis_2a_autosomal_dominant Epidermolytic hyperkeratosis 2A, autosomal dominant Supplemental_disease_name DISEASE_NAME:epidermolytic_hyperkeratosis_2b_autosomal_recessive Epidermolytic hyperkeratosis 2B, autosomal recessive Supplemental_disease_name DISEASE_NAME:epidermolytic_ichthyosis_congenital_reticular_ichthyosiform_erythroderma_annular_epidermolytic_ichthyosis Epidermolytic ichthyosis;Congenital reticular ichthyosiform erythroderma;Annular epidermolytic ichthyosis Supplemental_disease_name DISEASE_NAME:epidermolytic_nevus Epidermolytic nevus Supplemental_disease_name DISEASE_NAME:epilepsy_autism_spectrum_disorder_intellectual_disability Epilepsy;Autism spectrum disorder;Intellectual disability Supplemental_disease_name DISEASE_NAME:epilepsy_benign_neonatal_1_and_or_myokymia Epilepsy, benign neonatal, 1, and/or myokymia Supplemental_disease_name DISEASE_NAME:epilepsy_bilateral_lesions_of_basal_ganglia Epilepsy;Bilateral lesions of basal ganglia Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_4 Epilepsy, childhood absence 4 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_4_epilepsy_idiopathic_generalized_susceptibility_to_13_idiopathic_generalized_epilepsy Epilepsy, childhood absence 4;Epilepsy, idiopathic generalized, susceptibility to, 13;Idiopathic generalized epilepsy Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_4_idiopathic_generalized_epilepsy_epilepsy_idiopathic_generalized_susceptibility_to_13 Epilepsy, childhood absence 4;Idiopathic generalized epilepsy;Epilepsy, idiopathic generalized, susceptibility to, 13 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_1 Epilepsy, childhood absence, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_1_epilepsy_childhood_absence_susceptibility_to_5 Epilepsy, childhood absence, susceptibility to, 1;Epilepsy, childhood absence, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_1_idiopathic_generalized_epilepsy Epilepsy, childhood absence, susceptibility to, 1;Idiopathic generalized epilepsy Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_2 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_2_developmental_and_epileptic_encephalopathy_74 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;Developmental and epileptic encephalopathy, 74 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_2_febrile_seizures_familial_8 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;Febrile seizures, familial, 8 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_5 Epilepsy, childhood absence, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_5_developmental_and_epileptic_encephalopathy_43 Epilepsy, childhood absence, susceptibility to, 5;Developmental and epileptic encephalopathy, 43 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_5_epilepsy_childhood_absence_susceptibility_to_1 Epilepsy, childhood absence, susceptibility to, 5;Epilepsy, childhood absence, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_6 Epilepsy, childhood absence, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:epilepsy_childhood_absence_susceptibility_to_6_hyperaldosteronism_familial_type_iv Epilepsy, childhood absence, susceptibility to, 6;Hyperaldosteronism, familial, type IV Supplemental_disease_name DISEASE_NAME:epilepsy_due_to_perinatal_stroke Epilepsy due to perinatal stroke Supplemental_disease_name DISEASE_NAME:epilepsy_dysmorphic_features_intellectual_disability Epilepsy;Dysmorphic features;Intellectual disability Supplemental_disease_name DISEASE_NAME:epilepsy_early_onset Epilepsy, early-onset Supplemental_disease_name DISEASE_NAME:epilepsy_early_onset_3_with_developmental_delay EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY Supplemental_disease_name DISEASE_NAME:epilepsy_early_onset_3_with_or_without_developmental_delay Epilepsy, early-onset, 3, with or without developmental delay Supplemental_disease_name DISEASE_NAME:epilepsy_early_onset_vitamin_b6_dependent Epilepsy, early-onset, vitamin B6-dependent Supplemental_disease_name DISEASE_NAME:epilepsy_early_onset_with_or_without_developmental_delay Epilepsy, early-onset, with or without developmental delay Supplemental_disease_name DISEASE_NAME:epilepsy_early_onset_with_or_without_developmental_delay_neurodevelopmental_disorder_with_speech_impairment_and_dysmorphic_facies Epilepsy, early-onset, with or without developmental delay;Neurodevelopmental disorder with speech impairment and dysmorphic facies Supplemental_disease_name DISEASE_NAME:epilepsy_familial_adult_myoclonic_1 Epilepsy, familial adult myoclonic, 1 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_adult_myoclonic_1_epilepsy_familial_adult_myoclonic_5 Epilepsy, familial adult myoclonic, 1;Epilepsy, familial adult myoclonic, 5 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_adult_myoclonic_2 Epilepsy, familial adult myoclonic, 2 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_adult_myoclonic_3 Epilepsy, familial adult myoclonic, 3 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_adult_myoclonic_4 Epilepsy, familial adult myoclonic, 4 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_adult_myoclonic_5 Epilepsy, familial adult myoclonic, 5 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_adult_myoclonic_6 Epilepsy, familial adult myoclonic, 6 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_adult_myoclonic_7 Epilepsy, familial adult myoclonic, 7 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_focal_with_variable_foci_1 Epilepsy, familial focal, with variable foci 1 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_focal_with_variable_foci_1_developmental_and_epileptic_encephalopathy_111 Epilepsy, familial focal, with variable foci 1;Developmental and epileptic encephalopathy 111 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_focal_with_variable_foci_2 Epilepsy, familial focal, with variable foci 2 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_focal_with_variable_foci_3 Epilepsy, familial focal, with variable foci 3 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_focal_with_variable_foci_4 Epilepsy, familial focal, with variable foci 4 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_focal_with_variable_foci_4_developmental_and_epileptic_encephalopathy_62 Epilepsy, familial focal, with variable foci 4;Developmental and epileptic encephalopathy, 62 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_temporal_lobe_1 Epilepsy, familial temporal lobe, 1 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_temporal_lobe_1_familial_temporal_lobe_epilepsy_7_norman_roberts_syndrome Epilepsy, familial temporal lobe, 1;Familial temporal lobe epilepsy 7;Norman-Roberts syndrome Supplemental_disease_name DISEASE_NAME:epilepsy_familial_temporal_lobe_1_genitopatellar_syndrome Epilepsy, familial temporal lobe, 1;Genitopatellar syndrome Supplemental_disease_name DISEASE_NAME:epilepsy_familial_temporal_lobe_1_norman_roberts_syndrome_familial_temporal_lobe_epilepsy_7 Epilepsy, familial temporal lobe, 1;Norman-Roberts syndrome;Familial temporal lobe epilepsy 7 Supplemental_disease_name DISEASE_NAME:epilepsy_focal_scn3a_related Epilepsy, focal, SCN3A related Supplemental_disease_name DISEASE_NAME:epilepsy_focal_scn3a_related_developmental_and_epileptic_encephalopathy_62 Epilepsy, focal, SCN3A related;Developmental and epileptic encephalopathy, 62 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_20 Epilepsy, idiopathic generalized 20 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_10 Epilepsy, idiopathic generalized, susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_11 Epilepsy, idiopathic generalized, susceptibility to, 11 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_11_familial_hyperaldosteronism_type_ii_leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema Epilepsy, idiopathic generalized, susceptibility to, 11;Familial hyperaldosteronism type II;Leukoencephalopathy with mild cerebellar ataxia and white matter edema Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_11_leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_11_leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema_familial_hyperaldosteronism_type_ii Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_12 Epilepsy, idiopathic generalized, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_12_dystonia_9_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2 Epilepsy, idiopathic generalized, susceptibility to, 12;Dystonia 9;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_12_dystonia_9_hereditary_cryohydrocytosis_with_reduced_stomatin_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2 Epilepsy, idiopathic generalized, susceptibility to, 12;Dystonia 9;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_12_hereditary_cryohydrocytosis_with_reduced_stomatin_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2_dystonia_9 Epilepsy, idiopathic generalized, susceptibility to, 12;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Dystonia 9 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_13 Epilepsy, idiopathic generalized, susceptibility to, 13 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_13_developmental_and_epileptic_encephalopathy_19 Epilepsy, idiopathic generalized, susceptibility to, 13;Developmental and epileptic encephalopathy, 19 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_13_epilepsy_childhood_absence_4_idiopathic_generalized_epilepsy Epilepsy, idiopathic generalized, susceptibility to, 13;Epilepsy, childhood absence 4;Idiopathic generalized epilepsy Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_13_idiopathic_generalized_epilepsy_epilepsy_childhood_absence_4 Epilepsy, idiopathic generalized, susceptibility to, 13;Idiopathic generalized epilepsy;Epilepsy, childhood absence 4 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_14 Epilepsy, idiopathic generalized, susceptibility to, 14 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_14_developmental_and_epileptic_encephalopathy_34 Epilepsy, idiopathic generalized, susceptibility to, 14;Developmental and epileptic encephalopathy, 34 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_15 Epilepsy, idiopathic generalized, susceptibility to, 15 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_16 Epilepsy, idiopathic generalized, susceptibility to, 16 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_16_cerebellar_atrophy_developmental_delay_and_seizures Epilepsy, idiopathic generalized, susceptibility to, 16;Cerebellar atrophy, developmental delay, and seizures Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_16_cerebellar_atrophy_developmental_delay_and_seizures_liang_wang_syndrome_generalized_epilepsy_paroxysmal_dyskinesia_syndrome Epilepsy, idiopathic generalized, susceptibility to, 16;Cerebellar atrophy, developmental delay, and seizures;Liang-Wang syndrome;Generalized epilepsy-paroxysmal dyskinesia syndrome Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_16_generalized_epilepsy_paroxysmal_dyskinesia_syndrome Epilepsy, idiopathic generalized, susceptibility to, 16;Generalized epilepsy-paroxysmal dyskinesia syndrome Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_16_generalized_epilepsy_paroxysmal_dyskinesia_syndrome_cerebellar_atrophy_developmental_delay_and_seizures_liang_wang_syndrome Epilepsy, idiopathic generalized, susceptibility to, 16;Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures;Liang-Wang syndrome Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_16_liang_wang_syndrome_cerebellar_atrophy_developmental_delay_and_seizures_generalized_epilepsy_paroxysmal_dyskinesia_syndrome Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome;Cerebellar atrophy, developmental delay, and seizures;Generalized epilepsy-paroxysmal dyskinesia syndrome Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_16_liang_wang_syndrome_generalized_epilepsy_paroxysmal_dyskinesia_syndrome_cerebellar_atrophy_developmental_delay_and_seizures Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome;Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_17 Epilepsy, idiopathic generalized, susceptibility to, 17 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_18 Epilepsy, idiopathic generalized, susceptibility to, 18 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_18_brugada_syndrome_8_sick_sinus_syndrome_2_autosomal_dominant Epilepsy, idiopathic generalized, susceptibility to, 18;Brugada syndrome 8;Sick sinus syndrome 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_18_sick_sinus_syndrome_2_autosomal_dominant_brugada_syndrome_8 Epilepsy, idiopathic generalized, susceptibility to, 18;Sick sinus syndrome 2, autosomal dominant;Brugada syndrome 8 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_19 Epilepsy, idiopathic generalized, susceptibility to, 19 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_5 Epilepsy, idiopathic generalized, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_6 Epilepsy, idiopathic generalized, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_7 Epilepsy, idiopathic generalized, susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_8 Epilepsy, idiopathic generalized, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_8_autosomal_dominant_hypocalcemia_1_familial_hypocalciuric_hypercalcemia_1_neonatal_severe_primary_hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8;Autosomal dominant hypocalcemia 1;Familial hypocalciuric hypercalcemia 1;Neonatal severe primary hyperparathyroidism Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_8_autosomal_dominant_hypocalcemia_1_neonatal_severe_primary_hyperparathyroidism_familial_hypocalciuric_hypercalcemia_1 Epilepsy, idiopathic generalized, susceptibility to, 8;Autosomal dominant hypocalcemia 1;Neonatal severe primary hyperparathyroidism;Familial hypocalciuric hypercalcemia 1 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_8_familial_hypocalciuric_hypercalcemia_1_autosomal_dominant_hypocalcemia_1_neonatal_severe_primary_hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8;Familial hypocalciuric hypercalcemia 1;Autosomal dominant hypocalcemia 1;Neonatal severe primary hyperparathyroidism Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_8_familial_hypocalciuric_hypercalcemia_1_neonatal_severe_primary_hyperparathyroidism_autosomal_dominant_hypocalcemia_1 Epilepsy, idiopathic generalized, susceptibility to, 8;Familial hypocalciuric hypercalcemia 1;Neonatal severe primary hyperparathyroidism;Autosomal dominant hypocalcemia 1 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_8_neonatal_severe_primary_hyperparathyroidism_autosomal_dominant_hypocalcemia_1_familial_hypocalciuric_hypercalcemia_1 Epilepsy, idiopathic generalized, susceptibility to, 8;Neonatal severe primary hyperparathyroidism;Autosomal dominant hypocalcemia 1;Familial hypocalciuric hypercalcemia 1 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_8_neonatal_severe_primary_hyperparathyroidism_familial_hypocalciuric_hypercalcemia_1_autosomal_dominant_hypocalcemia_1 Epilepsy, idiopathic generalized, susceptibility to, 8;Neonatal severe primary hyperparathyroidism;Familial hypocalciuric hypercalcemia 1;Autosomal dominant hypocalcemia 1 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_9 Epilepsy, idiopathic generalized, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:epilepsy_idiopathic_generalized_susceptibility_to_9_episodic_ataxia_type_5 Epilepsy, idiopathic generalized, susceptibility to, 9;Episodic ataxia type 5 Supplemental_disease_name DISEASE_NAME:epilepsy_intellectual_deficiency_microcephaly Epilepsy;intellectual deficiency;Microcephaly Supplemental_disease_name DISEASE_NAME:epilepsy_juvenile_absence_susceptibility_to_1_myoclonic_epilepsy_juvenile_susceptibility_to_1 Epilepsy, juvenile absence, susceptibility to, 1;Myoclonic epilepsy, juvenile, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:epilepsy_juvenile_absence_susceptibility_to_2 EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 Supplemental_disease_name DISEASE_NAME:epilepsy_juvenile_myoclonic_susceptibility_to_10 Epilepsy, juvenile myoclonic, susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:epilepsy_juvenile_myoclonic_susceptibility_to_10_endocrine_cerebro_osteodysplasia_syndrome Epilepsy, juvenile myoclonic, susceptibility to, 10;Endocrine-cerebro-osteodysplasia syndrome Supplemental_disease_name DISEASE_NAME:epilepsy_juvenile_myoclonic_susceptibility_to_6 Epilepsy, juvenile myoclonic, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:epilepsy_juvenile_myoclonic_susceptibility_to_8 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 Supplemental_disease_name DISEASE_NAME:epilepsy_mitochondrial Epilepsy, mitochondrial Supplemental_disease_name DISEASE_NAME:epilepsy_of_infancy_with_migrating_focal_seizures Epilepsy of infancy with migrating focal seizures Supplemental_disease_name DISEASE_NAME:epilepsy_polyhydramnios_intellectual_deficiency Epilepsy;Polyhydramnios;intellectual deficiency Supplemental_disease_name DISEASE_NAME:epilepsy_profound_intellectual_disability Epilepsy;Profound intellectual disability Supplemental_disease_name DISEASE_NAME:epilepsy_progressive_myoclonic_11 Epilepsy, progressive myoclonic, 11 Supplemental_disease_name DISEASE_NAME:epilepsy_progressive_myoclonic_12 Epilepsy, progressive myoclonic, 12 Supplemental_disease_name DISEASE_NAME:epilepsy_progressive_myoclonic_1b Epilepsy, progressive myoclonic, 1B Supplemental_disease_name DISEASE_NAME:epilepsy_progressive_myoclonic_3_with_intracellular_inclusions Epilepsy, progressive myoclonic, 3, with intracellular inclusions Supplemental_disease_name DISEASE_NAME:epilepsy_with_myoclonic_atonic_seizures Epilepsy with myoclonic atonic seizures Supplemental_disease_name DISEASE_NAME:epilepsy_x_linked_1_with_variable_learning_disabilities_and_behavior_disorders Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders Supplemental_disease_name DISEASE_NAME:epilepsy_x_linked_2_with_or_without_impaired_intellectual_development_and_dysmorphic_features Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features Supplemental_disease_name DISEASE_NAME:epileptic_encephalopathy Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:epileptic_encephalopathy_early_infanitle_1 epileptic encephalopathy, early infanitle, 1 Supplemental_disease_name DISEASE_NAME:epileptic_encephalopathy_infantile_or_early_childhood Epileptic encephalopathy, infantile or early childhood Supplemental_disease_name DISEASE_NAME:epileptic_encephalopathy_seizure Epileptic encephalopathy;Seizure Supplemental_disease_name DISEASE_NAME:epileptic_encephalopathy_severe_global_developmental_delay_focal_onset_seizure Epileptic encephalopathy;Severe global developmental delay;Focal-onset seizure Supplemental_disease_name DISEASE_NAME:epileptic_encephalopathy_with_cognitive_deficit Epileptic encephalopathy with cognitive deficit Supplemental_disease_name DISEASE_NAME:epileptic_spasm Epileptic spasm Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia Epiphyseal dysplasia Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_1_severe Epiphyseal dysplasia, multiple, 1, severe Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_2 Epiphyseal dysplasia, multiple, 2 Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_2_stickler_syndrome_type_5 Epiphyseal dysplasia, multiple, 2;Stickler syndrome, type 5 Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_3 Epiphyseal dysplasia, multiple, 3 Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_3_autosomal_recessive_stickler_syndrome Epiphyseal dysplasia, multiple, 3;Autosomal recessive Stickler syndrome Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_3_intervertebral_disc_disorder Epiphyseal dysplasia, multiple, 3;Intervertebral disc disorder Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_3_intervertebral_disc_disorder_stickler_syndrome_type_6 Epiphyseal dysplasia, multiple, 3;Intervertebral disc disorder;Stickler syndrome, type 6 Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_3_stickler_syndrome_type_6_intervertebral_disc_disorder Epiphyseal dysplasia, multiple, 3;Stickler syndrome, type 6;Intervertebral disc disorder Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_3_stickler_syndrome_type_6_intervertebral_disc_disorder_deafness Epiphyseal dysplasia, multiple, 3;Stickler syndrome, type 6;Intervertebral disc disorder;Deafness Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_3_with_myopathy Epiphyseal dysplasia, multiple, 3, with myopathy Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_6 Epiphyseal dysplasia, multiple, 6 Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_6_stickler_syndrome_type_4 Epiphyseal dysplasia, multiple, 6;Stickler syndrome, type 4 Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_7 Epiphyseal dysplasia, multiple, 7 Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_7_desbuquois_dysplasia_1 Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_and_epilepsy Episodic ataxia, type 2, and epilepsy Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_developmental_and_epileptic_encephalopathy_42 Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_developmental_and_epileptic_encephalopathy_42_migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6 Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_developmental_and_epileptic_encephalopathy_42_spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1 Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_developmental_and_epileptic_encephalopathy_52_spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1 Episodic ataxia type 2;Developmental and epileptic encephalopathy, 52;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_migraine_familial_hemiplegic_1 Episodic ataxia type 2;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_42_spinocerebellar_ataxia_type_6 Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 42;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_52_spinocerebellar_ataxia_type_6 Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6 Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6_developmental_and_epileptic_encephalopathy_42 Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 42 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_spinocerebellar_ataxia_type_6_developmental_and_epileptic_encephalopathy_42_migraine_familial_hemiplegic_1 Episodic ataxia type 2;Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 42;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_spinocerebellar_ataxia_type_6_developmental_and_epileptic_encephalopathy_52_migraine_familial_hemiplegic_1 Episodic ataxia type 2;Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 52;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1 Episodic ataxia type 2;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_42 Episodic ataxia type 2;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 42 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_52 Episodic ataxia type 2;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_9_developmental_and_epileptic_encephalopathy_11_seizures_benign_familial_infantile_3 Episodic ataxia, type 9;Developmental and epileptic encephalopathy, 11;Seizures, benign familial infantile, 3 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_9_seizures_benign_familial_infantile_3_developmental_and_epileptic_encephalopathy_11 Episodic ataxia, type 9;Seizures, benign familial infantile, 3;Developmental and epileptic encephalopathy, 11 Supplemental_disease_name DISEASE_NAME:episodic_coma Episodic coma Supplemental_disease_name DISEASE_NAME:episodic_hemiplegia_paroxysmal_dyskinesia_paroxysmal_dystonia Episodic hemiplegia;Paroxysmal dyskinesia;Paroxysmal dystonia Supplemental_disease_name DISEASE_NAME:episodic_kinesigenic_dyskinesia Episodic kinesigenic dyskinesia Supplemental_disease_name DISEASE_NAME:episodic_kinesigenic_dyskinesia_1_infantile_convulsions_and_choreoathetosis_seizures_benign_familial_infantile_2 Episodic kinesigenic dyskinesia 1;Infantile convulsions and choreoathetosis;Seizures, benign familial infantile, 2 Supplemental_disease_name DISEASE_NAME:episodic_kinesigenic_dyskinesia_1_seizures_benign_familial_infantile_2 Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 Supplemental_disease_name DISEASE_NAME:episodic_kinesigenic_dyskinesia_1_seizures_benign_familial_infantile_2_infantile_convulsions_and_choreoathetosis Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2;Infantile convulsions and choreoathetosis Supplemental_disease_name DISEASE_NAME:episodic_kinesigenic_dyskinesia_and_familial_infantile_convulsions_with_paroxysmal_choreoathetosis Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis Supplemental_disease_name DISEASE_NAME:episodic_pain_syndrome_familial_2 Episodic pain syndrome, familial, 2 Supplemental_disease_name DISEASE_NAME:epistaxis_pulmonary_arterial_hypertension Epistaxis;Pulmonary arterial hypertension Supplemental_disease_name DISEASE_NAME:epithelial_ovarian_cancer Epithelial ovarian cancer Supplemental_disease_name DISEASE_NAME:epithelial_recurrent_erosion_dystrophy_epidermolysis_bullosa_junctional_4_intermediate Epithelial recurrent erosion dystrophy;Epidermolysis bullosa, junctional 4, intermediate Supplemental_disease_name DISEASE_NAME:epithelial_recurrent_erosion_dystrophy_late_onset_junctional_epidermolysis_bullosa_junctional_epidermolysis_bullosa_non_herlitz_type Epithelial recurrent erosion dystrophy;Late-onset junctional epidermolysis bullosa;Junctional epidermolysis bullosa, non-Herlitz type Supplemental_disease_name DISEASE_NAME:epithelial_squamous_dysplasia_keratinizing_desquamative_of_urinary_tract Epithelial squamous dysplasia, keratinizing desquamative, of urinary tract Supplemental_disease_name DISEASE_NAME:epithelioid_tumor_of_the_omentum epithelioid tumor of the omentum Supplemental_disease_name DISEASE_NAME:epm2a_related_disorder EPM2A-related disorder Supplemental_disease_name DISEASE_NAME:epo_related_disorder EPO-related disorder Supplemental_disease_name DISEASE_NAME:epor_related_disorder EPOR-related disorder Supplemental_disease_name DISEASE_NAME:epoxide_hydrolase_1_polymorphism EPOXIDE HYDROLASE 1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:eppk1_related_disorder EPPK1-related disorder Supplemental_disease_name DISEASE_NAME:eprs1_related_disorder EPRS1-related disorder Supplemental_disease_name DISEASE_NAME:eps8_related_disorder EPS8-related disorder Supplemental_disease_name DISEASE_NAME:eps8l2_related_disorder EPS8L2-related disorder Supplemental_disease_name DISEASE_NAME:eps8l3_related_disorder EPS8L3-related disorder Supplemental_disease_name DISEASE_NAME:epsilon_trimethyllysine_hydroxylase_deficiency Epsilon-trimethyllysine hydroxylase deficiency Supplemental_disease_name DISEASE_NAME:er_blood_group_system_er_a_b ER BLOOD GROUP SYSTEM, ER(a-b-) Supplemental_disease_name DISEASE_NAME:eral1_related_disorder ERAL1-related disorder Supplemental_disease_name DISEASE_NAME:erap1_related_disorder ERAP1-related disorder Supplemental_disease_name DISEASE_NAME:erbb2_polymorphism ERBB2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:erbb3_related_disorder ERBB3-related disorder Supplemental_disease_name DISEASE_NAME:erbb4_associated_epilepsy_syndrome ERBB4-associated epilepsy syndrome Supplemental_disease_name DISEASE_NAME:erbb4_related_disorder ERBB4-related disorder Supplemental_disease_name DISEASE_NAME:erbb4_related_non_syndromic_intellectual_disability_or_epilepsy ERBB4-related Non-syndromic intellectual disability or epilepsy Supplemental_disease_name DISEASE_NAME:erbin_related_disorder ERBIN-related disorder Supplemental_disease_name DISEASE_NAME:erc1_related_disorder ERC1-related disorder Supplemental_disease_name DISEASE_NAME:ercc1_related_disorder ERCC1-related disorder Supplemental_disease_name DISEASE_NAME:ercc2_related_disorder ERCC2-related disorder Supplemental_disease_name DISEASE_NAME:ercc3_related_disorder ERCC3-related disorder Supplemental_disease_name DISEASE_NAME:ercc4_related_disorder ERCC4-related disorder Supplemental_disease_name DISEASE_NAME:ercc4_related_disorders ERCC4-Related Disorders Supplemental_disease_name DISEASE_NAME:ercc5_related_disorder ERCC5-related disorder Supplemental_disease_name DISEASE_NAME:ercc6_related_disorder ERCC6-related disorder Supplemental_disease_name DISEASE_NAME:ercc6l2_related_disorder ERCC6L2-related disorder Supplemental_disease_name DISEASE_NAME:ercc8_related_disorder ERCC8-related disorder Supplemental_disease_name DISEASE_NAME:erf_related_disorder ERF-related disorder Supplemental_disease_name DISEASE_NAME:erg2_related_disorder ERG2-related disorder Supplemental_disease_name DISEASE_NAME:ergic1_related_disorder ERGIC1-related disorder Supplemental_disease_name DISEASE_NAME:eri1_associated_disorder ERI1-associated disorder Supplemental_disease_name DISEASE_NAME:eri1_related_disorder ERI1-related disorder Supplemental_disease_name DISEASE_NAME:erlin1_related_disorder ERLIN1-related disorder Supplemental_disease_name DISEASE_NAME:erlin2_related_disorder ERLIN2-related disorder Supplemental_disease_name DISEASE_NAME:erlotinib_response_efficacy erlotinib response - Efficacy Supplemental_disease_name DISEASE_NAME:ermap_related_disorder ERMAP-related disorder Supplemental_disease_name DISEASE_NAME:ermard_related_disorder ERMARD-related disorder Supplemental_disease_name DISEASE_NAME:erythema_jaundice Erythema;Jaundice Supplemental_disease_name DISEASE_NAME:erythrocyte_amp_deaminase_deficiency Erythrocyte AMP deaminase deficiency Supplemental_disease_name DISEASE_NAME:erythrocytosis Erythrocytosis Supplemental_disease_name DISEASE_NAME:erythrocytosis_5 ERYTHROCYTOSIS 5 Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_3 Erythrocytosis, familial, 3 Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_3_hemoglobin_high_altitude_adaptation Erythrocytosis, familial, 3;Hemoglobin, high altitude adaptation Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_4 Erythrocytosis, familial, 4 Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_5 Erythrocytosis, familial, 5 Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_6 Erythrocytosis, familial, 6 Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_7 Erythrocytosis, familial, 7 Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_7_alpha_thalassemia_heinz_body_anemia_methemoglobinemia_alpha_type_hemoglobin_h_disease Erythrocytosis, familial, 7;alpha Thalassemia;Heinz body anemia;Methemoglobinemia, alpha type;Hemoglobin H disease Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_7_heinz_body_anemia_alpha_thalassemia_hemoglobin_h_disease Erythrocytosis, familial, 7;Heinz body anemia;alpha Thalassemia;Hemoglobin H disease Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_7_heinz_body_anemia_hemoglobin_h_disease_alpha_thalassemia Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;alpha Thalassemia Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_7_heinz_body_anemia_hemoglobin_h_disease_methemoglobinemia_alpha_type_alpha_thalassemia Erythrocytosis, familial, 7;Heinz body anemia;Hemoglobin H disease;Methemoglobinemia, alpha type;alpha Thalassemia Supplemental_disease_name DISEASE_NAME:erythrocytosis_familial_7_hemoglobin_h_disease_alpha_thalassemia_heinz_body_anemia_methemoglobinemia_alpha_type Erythrocytosis, familial, 7;Hemoglobin H disease;alpha Thalassemia;Heinz body anemia;Methemoglobinemia, alpha type Supplemental_disease_name DISEASE_NAME:erythrocytosis_jak2_related_somatic ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC Supplemental_disease_name DISEASE_NAME:erythroderma_increased_circulating_ige_concentration Erythroderma;Increased circulating IgE concentration Supplemental_disease_name DISEASE_NAME:erythrokeratodermia_variabilis_et_progressiva erythrokeratodermia variabilis et progressiva Supplemental_disease_name DISEASE_NAME:erythrokeratodermia_variabilis_et_progressiva_1_autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_dominant_nonsyndromic_hearing_loss_2b Erythrokeratodermia variabilis et progressiva 1;Autosomal recessive nonsyndromic hearing loss 1A;Autosomal dominant nonsyndromic hearing loss 2B Supplemental_disease_name DISEASE_NAME:erythrokeratodermia_variabilis_et_progressiva_6_progressive_familial_heart_block_type_ib Erythrokeratodermia variabilis et progressiva 6;Progressive familial heart block type IB Supplemental_disease_name DISEASE_NAME:erythrokeratodermia_variabilis_et_progressiva_7 Erythrokeratodermia variabilis et progressiva 7 Supplemental_disease_name DISEASE_NAME:erythroleukemia_familial_susceptibility_to Erythroleukemia, familial, susceptibility to Supplemental_disease_name DISEASE_NAME:erythroleukemia_familial_susceptibility_to_lethal_congenital_contracture_syndrome_2_visceral_neuropathy_familial_1_autosomal_recessive Erythroleukemia, familial, susceptibility to;Lethal congenital contracture syndrome 2;Visceral neuropathy, familial, 1, autosomal recessive Supplemental_disease_name DISEASE_NAME:esco2_related_disorder ESCO2-related disorder Supplemental_disease_name DISEASE_NAME:esophageal_adenocarcinoma Esophageal adenocarcinoma Supplemental_disease_name DISEASE_NAME:esophageal_and_colonic_dysmotility Esophageal and colonic dysmotility Supplemental_disease_name DISEASE_NAME:esophageal_atresia_pyloric_stenosis Esophageal atresia;Pyloric stenosis Supplemental_disease_name DISEASE_NAME:esophageal_cancer_alcohol_related_susceptibility_to ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:esophageal_carcinoma_somatic Esophageal carcinoma, somatic Supplemental_disease_name DISEASE_NAME:esophageal_squamous Esophageal squamous Supplemental_disease_name DISEASE_NAME:esophageal_squamous_cell_carcinoma Esophageal squamous cell carcinoma Supplemental_disease_name DISEASE_NAME:esophageal_squamous_cell_carcinoma_somatic Esophageal squamous cell carcinoma, somatic Supplemental_disease_name DISEASE_NAME:espl1_related_disorder ESPL1-related disorder Supplemental_disease_name DISEASE_NAME:espn_related_disorder ESPN-related disorder Supplemental_disease_name DISEASE_NAME:esr1_related_disorder ESR1-related disorder Supplemental_disease_name DISEASE_NAME:esr2_related_disorder ESR2-related disorder Supplemental_disease_name DISEASE_NAME:esrp1_related_disorder ESRP1-related disorder Supplemental_disease_name DISEASE_NAME:esrp2_related_disorder ESRP2-related disorder Supplemental_disease_name DISEASE_NAME:esrrb_related_disorder ESRRB-related disorder Supplemental_disease_name DISEASE_NAME:esrrg_related_condition ESRRG-related condition Supplemental_disease_name DISEASE_NAME:essential_hypertension_genetic Essential hypertension, genetic Supplemental_disease_name DISEASE_NAME:essential_hypertension_genetic_hirschsprung_disease_cardiac_defects_and_autonomic_dysfunction Essential hypertension, genetic;Hirschsprung disease, cardiac defects, and autonomic dysfunction Supplemental_disease_name DISEASE_NAME:essential_hypertension_genetic_renal_tubular_dysgenesis_of_genetic_origin Essential hypertension, genetic;Renal tubular dysgenesis of genetic origin Supplemental_disease_name DISEASE_NAME:essential_thrombocythemia_congenital_amegakaryocytic_thrombocytopenia Essential thrombocythemia;Congenital amegakaryocytic thrombocytopenia Supplemental_disease_name DISEASE_NAME:essential_tremor_susceptibility_to Essential tremor, susceptibility to Supplemental_disease_name DISEASE_NAME:estrogen_receptor_mutant_temperature_sensitive Estrogen receptor mutant, temperature-sensitive Supplemental_disease_name DISEASE_NAME:estrogen_resistance_syndrome Estrogen resistance syndrome Supplemental_disease_name DISEASE_NAME:esx1_related_disorder ESX1-related disorder Supplemental_disease_name DISEASE_NAME:etanercept_response_efficacy etanercept response - Efficacy Supplemental_disease_name DISEASE_NAME:etfa_related_disorder ETFA-related disorder Supplemental_disease_name DISEASE_NAME:etfb_related_disorder ETFB-related disorder Supplemental_disease_name DISEASE_NAME:etfdh_related_disorder ETFDH-related disorder Supplemental_disease_name DISEASE_NAME:ethanol_response_toxicity ethanol response - Toxicity Supplemental_disease_name DISEASE_NAME:ethe1_related_disorder ETHE1-related disorder Supplemental_disease_name DISEASE_NAME:ets1_related_disorder ETS1-related disorder Supplemental_disease_name DISEASE_NAME:etv3l_related_disorder ETV3L-related disorder Supplemental_disease_name DISEASE_NAME:etv4_related_disorder ETV4-related disorder Supplemental_disease_name DISEASE_NAME:etv5_related_disorder ETV5-related disorder Supplemental_disease_name DISEASE_NAME:etv6_related_disorder ETV6-related disorder Supplemental_disease_name DISEASE_NAME:euthyroid_goiter Euthyroid goiter Supplemental_disease_name DISEASE_NAME:euthyroid_goiter_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_rhabdomyosarcoma_embryonal_2_pleuropulmonary_blastoma Euthyroid goiter;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma Supplemental_disease_name DISEASE_NAME:euthyroid_goiter_pleuropulmonary_blastoma_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_rhabdomyosarcoma_embryonal_2 Euthyroid goiter;Pleuropulmonary blastoma;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Rhabdomyosarcoma, embryonal, 2 Supplemental_disease_name DISEASE_NAME:euthyroid_goiter_pleuropulmonary_blastoma_rhabdomyosarcoma_embryonal_2 Euthyroid goiter;Pleuropulmonary blastoma;Rhabdomyosarcoma, embryonal, 2 Supplemental_disease_name DISEASE_NAME:euthyroid_goiter_pleuropulmonary_blastoma_rhabdomyosarcoma_embryonal_2_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome Euthyroid goiter;Pleuropulmonary blastoma;Rhabdomyosarcoma, embryonal, 2;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Supplemental_disease_name DISEASE_NAME:euthyroid_goiter_rhabdomyosarcoma_embryonal_2_dicer1_related_tumor_predisposition Euthyroid goiter;Rhabdomyosarcoma, embryonal, 2;DICER1-related tumor predisposition Supplemental_disease_name DISEASE_NAME:euthyroid_goiter_rhabdomyosarcoma_embryonal_2_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_pleuropulmonary_blastoma Euthyroid goiter;Rhabdomyosarcoma, embryonal, 2;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Pleuropulmonary blastoma Supplemental_disease_name DISEASE_NAME:euthyroid_goiter_rhabdomyosarcoma_embryonal_2_pleuropulmonary_blastoma_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome Euthyroid goiter;Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Supplemental_disease_name DISEASE_NAME:eva1a_related_disorder EVA1A-related disorder Supplemental_disease_name DISEASE_NAME:evans_syndrome_immunodeficiency_and_premature_immunosenescence_associated_with_tripeptidyl_peptidase_ii_deficiency Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency Supplemental_disease_name DISEASE_NAME:evc2_related_disorder EVC2-related disorder Supplemental_disease_name DISEASE_NAME:evc_associated_disorder EVC-associated disorder Supplemental_disease_name DISEASE_NAME:evc_related_disorder EVC-related disorder Supplemental_disease_name DISEASE_NAME:even_plus_syndrome Even-plus syndrome Supplemental_disease_name DISEASE_NAME:even_plus_syndrome_autosomal_dominant_sideroblastic_anemia Even-plus syndrome;Autosomal dominant sideroblastic anemia Supplemental_disease_name DISEASE_NAME:everolimus_response Everolimus response Supplemental_disease_name DISEASE_NAME:evi2a_related_disorder EVI2A-related disorder Supplemental_disease_name DISEASE_NAME:evi5_related_disorder EVI5-related disorder Supplemental_disease_name DISEASE_NAME:evx2_related_disorder EVX2-related disorder Supplemental_disease_name DISEASE_NAME:ewing_sarcoma_of_soft_tissue Ewing sarcoma of soft tissue Supplemental_disease_name DISEASE_NAME:ewsr1_related_disorder EWSR1-related disorder Supplemental_disease_name DISEASE_NAME:exaggerated_startle_response Exaggerated startle response Supplemental_disease_name DISEASE_NAME:exercise_induced_hyperinsulinism_metabolic_myopathy_due_to_lactate_transporter_defect_ketoacidosis_due_to_monocarboxylate_transporter_1_deficiency Exercise-induced hyperinsulinism;Metabolic myopathy due to lactate transporter defect;Ketoacidosis due to monocarboxylate transporter-1 deficiency Supplemental_disease_name DISEASE_NAME:exercise_induced_malignant_hyperthermia Exercise-induced malignant hyperthermia Supplemental_disease_name DISEASE_NAME:exercise_intolerance Exercise intolerance Supplemental_disease_name DISEASE_NAME:exercise_intolerance_and_complex_iii_deficiency_somatic Exercise intolerance and complex III deficiency, somatic Supplemental_disease_name DISEASE_NAME:exercise_intolerance_cardiomyopathy_and_septooptic_dysplasia Exercise intolerance, cardiomyopathy, and septooptic dysplasia Supplemental_disease_name DISEASE_NAME:exercise_intolerance_muscle_pain_and_lactic_acidemia Exercise intolerance, muscle pain, and lactic acidemia Supplemental_disease_name DISEASE_NAME:exercise_intolerance_riboflavin_responsive Exercise intolerance, riboflavin-responsive Supplemental_disease_name DISEASE_NAME:exertional_heat_illness Exertional Heat Illness Supplemental_disease_name DISEASE_NAME:exertional_myalgia_muscle_stiffness_and_myoglobinuria Exertional myalgia, muscle stiffness and myoglobinuria Supplemental_disease_name DISEASE_NAME:exfoliation_syndrome_susceptibility_to Exfoliation syndrome, susceptibility to Supplemental_disease_name DISEASE_NAME:exfoliative_ichthyosis Exfoliative ichthyosis Supplemental_disease_name DISEASE_NAME:exo1_related_disorder EXO1-related disorder Supplemental_disease_name DISEASE_NAME:exoc2_related_disorder EXOC2-related disorder Supplemental_disease_name DISEASE_NAME:exoc3l2_related_brain_malformations_and_or_renal_disease EXOC3L2-related brain malformations and/or renal disease Supplemental_disease_name DISEASE_NAME:exoc3l2_related_disorder EXOC3L2-related disorder Supplemental_disease_name DISEASE_NAME:exoc6b_related_disorder EXOC6B-related disorder Supplemental_disease_name DISEASE_NAME:exoc7_related_disorder EXOC7-related disorder Supplemental_disease_name DISEASE_NAME:exoc8_related_disorder EXOC8-related disorder Supplemental_disease_name DISEASE_NAME:exosc2_related_disorder EXOSC2-related disorder Supplemental_disease_name DISEASE_NAME:exosc3_related_disorder EXOSC3-related disorder Supplemental_disease_name DISEASE_NAME:exosc8_related_disorder EXOSC8-related disorder Supplemental_disease_name DISEASE_NAME:exosc9_related_disorder EXOSC9-related disorder Supplemental_disease_name DISEASE_NAME:exostoses Exostoses Supplemental_disease_name DISEASE_NAME:exostoses_multiple_type_1 Exostoses, multiple, type 1 Supplemental_disease_name DISEASE_NAME:exostoses_multiple_type_1_chondrosarcoma Exostoses, multiple, type 1;Chondrosarcoma Supplemental_disease_name DISEASE_NAME:exostoses_multiple_type_2 Exostoses, multiple, type 2 Supplemental_disease_name DISEASE_NAME:exostoses_multiple_type_2_seizures_scoliosis_macrocephaly_syndrome Exostoses, multiple, type 2;Seizures-scoliosis-macrocephaly syndrome Supplemental_disease_name DISEASE_NAME:experimental_autoimmune_encephalomyelitis Experimental autoimmune encephalomyelitis Supplemental_disease_name DISEASE_NAME:exph5_related_disorder EXPH5-related disorder Supplemental_disease_name DISEASE_NAME:expressive_language_delay_abnormal_facial_skeleton_morphology_abnormal_skull_morphology Expressive language delay;Abnormal facial skeleton morphology;Abnormal skull morphology Supplemental_disease_name DISEASE_NAME:expressive_language_delay_hypotonia_intellectual_disability_ataxia_global_developmental_delay Expressive language delay;Hypotonia;Intellectual disability;Ataxia;Global developmental delay Supplemental_disease_name DISEASE_NAME:ext1_related_disorder EXT1-related disorder Supplemental_disease_name DISEASE_NAME:ext2_related_disorder EXT2-related disorder Supplemental_disease_name DISEASE_NAME:external_ophthalmoplegia External ophthalmoplegia Supplemental_disease_name DISEASE_NAME:external_ophthalmoplegia_scoliosis_abnormal_rib_morphology External ophthalmoplegia;Scoliosis;Abnormal rib morphology Supplemental_disease_name DISEASE_NAME:extl3_related_disorder EXTL3-related disorder Supplemental_disease_name DISEASE_NAME:extra_oral_halitosis Extra oral halitosis Supplemental_disease_name DISEASE_NAME:extracranial_arteriovenous_malformation Extracranial arteriovenous malformation Supplemental_disease_name DISEASE_NAME:extramammary_paget_disease Extramammary Paget disease Supplemental_disease_name DISEASE_NAME:extranodal_nasal_type_natural_killer_cell_lymphoma Extranodal nasal-type natural killer cell lymphoma Supplemental_disease_name DISEASE_NAME:extraoral_halitosis_due_to_methanethiol_oxidase_deficiency Extraoral halitosis due to methanethiol oxidase deficiency Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_2_x_linked Exudative vitreoretinopathy 2, X-linked Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_2_x_linked_atrophia_bulborum_hereditaria Exudative vitreoretinopathy 2, X-linked;Atrophia bulborum hereditaria Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_4_autosomal_dominant Exudative vitreoretinopathy 4, autosomal dominant Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_4_autosomal_dominant_osteopetrosis_1_polycystic_liver_disease_1_osteoporosis_with_pseudoglioma Exudative vitreoretinopathy 4;Autosomal dominant osteopetrosis 1;Polycystic liver disease 1;Osteoporosis with pseudoglioma Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_4_autosomal_recessive Exudative vitreoretinopathy 4, autosomal recessive Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_4_digenic Exudative vitreoretinopathy 4, digenic Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_4_osteoporosis_with_pseudoglioma Exudative vitreoretinopathy 4;Osteoporosis with pseudoglioma Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_4_osteoporosis_with_pseudoglioma_autosomal_dominant_osteopetrosis_1_polycystic_liver_disease_1 Exudative vitreoretinopathy 4;Osteoporosis with pseudoglioma;Autosomal dominant osteopetrosis 1;Polycystic liver disease 1 Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_4_osteoporosis_with_pseudoglioma_polycystic_liver_disease_4_with_or_without_kidney_cysts_exudative_vitreoretinopathy_1 Exudative vitreoretinopathy 4;Osteoporosis with pseudoglioma;Polycystic liver disease 4 with or without kidney cysts;Exudative vitreoretinopathy 1 Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_6_retinitis_pigmentosa_72 Exudative vitreoretinopathy 6;Retinitis pigmentosa 72 Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_8 Exudative vitreoretinopathy 8 Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_digenic Exudative vitreoretinopathy, digenic Supplemental_disease_name DISEASE_NAME:exudative_vitreoretinopathy_x_linked Exudative vitreoretinopathy, X-linked Supplemental_disease_name DISEASE_NAME:eya1_related_disorder EYA1-related disorder Supplemental_disease_name DISEASE_NAME:eya4_related_disorder EYA4-related disorder Supplemental_disease_name DISEASE_NAME:eys_related_disorder EYS-related disorder Supplemental_disease_name DISEASE_NAME:eys_related_retinopathy EYS-related retinopathy Supplemental_disease_name DISEASE_NAME:ezetimibe_response Ezetimibe response Supplemental_disease_name DISEASE_NAME:ezh1_associated_neurodevelopmental_disorder EZH1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ezh1_neurodevelopmental_syndrome EZH1-neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:ezh1_related_disorder EZH1-related disorder Supplemental_disease_name DISEASE_NAME:ezh2_related_disorder EZH2-related disorder Supplemental_disease_name DISEASE_NAME:ezr_related_disorder EZR-related disorder Supplemental_disease_name DISEASE_NAME:f10_related_disorder F10-related disorder Supplemental_disease_name DISEASE_NAME:f11_related_disorder F11-related disorder Supplemental_disease_name DISEASE_NAME:f12_polymorphism F12 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:f12_related_disorder F12-related disorder Supplemental_disease_name DISEASE_NAME:f13a1_related_disorder F13A1-related disorder Supplemental_disease_name DISEASE_NAME:f13b_related_disorder F13B-related disorder Supplemental_disease_name DISEASE_NAME:f2_related_disorder F2-related disorder Supplemental_disease_name DISEASE_NAME:f2r_related_disorder F2R-related disorder Supplemental_disease_name DISEASE_NAME:f5_related_disorder F5-related disorder Supplemental_disease_name DISEASE_NAME:f7_related_disorder F7-related disorder Supplemental_disease_name DISEASE_NAME:f8_related_disorder F8-related disorder Supplemental_disease_name DISEASE_NAME:f8_related_disorders F8-related disorders Supplemental_disease_name DISEASE_NAME:f9_polymorphism F9 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:f9_related_disorder F9-related disorder Supplemental_disease_name DISEASE_NAME:fa2h_related_disorder FA2H-related disorder Supplemental_disease_name DISEASE_NAME:faah2_related_disorder FAAH2-related disorder Supplemental_disease_name DISEASE_NAME:faah_polymorphism FAAH POLYMORPHISM Supplemental_disease_name DISEASE_NAME:faah_related_disorder FAAH-related disorder Supplemental_disease_name DISEASE_NAME:faap24_related_disorder FAAP24-related disorder Supplemental_disease_name DISEASE_NAME:fabp2_polymorphism FABP2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:fabry_disease_hypertrophic_cardiomyopathy Fabry disease;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:facial_asymmetry Facial asymmetry Supplemental_disease_name DISEASE_NAME:facial_asymmetry_frontal_bossing_hypertelorism Facial asymmetry;Frontal bossing;Hypertelorism Supplemental_disease_name DISEASE_NAME:facial_asymmetry_single_transverse_palmar_crease_ventricular_septal_defect_strabismus_global_developmental_delay Facial asymmetry;Single transverse palmar crease;Ventricular septal defect;Strabismus;Global developmental delay Supplemental_disease_name DISEASE_NAME:facial_dysmorphism Facial dysmorphism Supplemental_disease_name DISEASE_NAME:facial_dysmorphism_hypertrichosis_epilepsy_intellectual_developmental_delay_and_gingival_overgrowth_syndrome Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome Supplemental_disease_name DISEASE_NAME:facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Supplemental_disease_name DISEASE_NAME:facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome_colorectal_cancer_susceptibility_to_12 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome;Colorectal cancer, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome_colorectal_cancer_susceptibility_to_12_intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome;Colorectal cancer, susceptibility to, 12;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency Supplemental_disease_name DISEASE_NAME:facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome_familial_colorectal_cancer Facial dysmorphism-immunodeficiency-livedo-short stature syndrome;Familial colorectal cancer Supplemental_disease_name DISEASE_NAME:facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome_intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency Supplemental_disease_name DISEASE_NAME:facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome_intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency_colorectal_cancer_susceptibility_to_12 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency;Colorectal cancer, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:facial_dysmorphism_lens_dislocation_anterior_segment_abnormalities_spontaneous_filtering_blebs_syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Supplemental_disease_name DISEASE_NAME:facial_grimacing_global_developmental_delay_micrognathia_feeding_difficulties_thumb_deformity Facial grimacing;Global developmental delay;Micrognathia;Feeding difficulties;Thumb deformity Supplemental_disease_name DISEASE_NAME:facial_hypotonia Facial hypotonia Supplemental_disease_name DISEASE_NAME:facial_palsy_congenital_with_ptosis_and_velopharyngeal_dysfunction Facial palsy, congenital, with ptosis and velopharyngeal dysfunction Supplemental_disease_name DISEASE_NAME:facial_paresis_hereditary_congenital_3 Facial paresis, hereditary congenital, 3 Supplemental_disease_name DISEASE_NAME:facioscapulohumeral_muscular_dystrophy_2_arrhinia_with_choanal_atresia_and_microphthalmia_syndrome Facioscapulohumeral muscular dystrophy 2;Arrhinia with choanal atresia and microphthalmia syndrome Supplemental_disease_name DISEASE_NAME:facioscapulohumeral_muscular_dystrophy_3_digenic Facioscapulohumeral muscular dystrophy 3, digenic Supplemental_disease_name DISEASE_NAME:facioscapulohumeral_muscular_dystrophy_4_digenic Facioscapulohumeral muscular dystrophy 4, digenic Supplemental_disease_name DISEASE_NAME:facioscapulohumeral_muscular_dystrophy_4_digenic_immunodeficiency_centromeric_instability_facial_anomalies_syndrome_1 Facioscapulohumeral muscular dystrophy 4, digenic;Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Supplemental_disease_name DISEASE_NAME:factor_5_and_factor_viii_combined_deficiency_of_2 Factor 5 and Factor VIII, combined deficiency of, 2 Supplemental_disease_name DISEASE_NAME:factor_b_fast_slow_polymorphism Factor B fast/slow polymorphism Supplemental_disease_name DISEASE_NAME:factor_h_deficiency Factor H deficiency Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_age_related_macular_degeneration_4 Factor H deficiency;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_age_related_macular_degeneration_4_atypical_hemolytic_uremic_syndrome Factor H deficiency;Age related macular degeneration 4;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_age_related_macular_degeneration_4_basal_laminar_drusen_atypical_hemolytic_uremic_syndrome Factor H deficiency;Age related macular degeneration 4;Basal laminar drusen;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_age_related_macular_degeneration_4_basal_laminar_drusen_hemolytic_uremic_syndrome_atypical_susceptibility_to_1 Factor H deficiency;Age related macular degeneration 4;Basal laminar drusen;Hemolytic uremic syndrome, atypical, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_age_related_macular_degeneration_4_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_basal_laminar_drusen Factor H deficiency;Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_atypical_hemolytic_uremic_syndrome Factor H deficiency;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_atypical_hemolytic_uremic_syndrome_age_related_macular_degeneration_4 Factor H deficiency;Atypical hemolytic-uremic syndrome;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_atypical_hemolytic_uremic_syndrome_age_related_macular_degeneration_4_basal_laminar_drusen Factor H deficiency;Atypical hemolytic-uremic syndrome;Age related macular degeneration 4;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_basal_laminar_drusen Factor H deficiency;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_basal_laminar_drusen_age_related_macular_degeneration_4_hemolytic_uremic_syndrome_atypical_susceptibility_to_1 Factor H deficiency;Basal laminar drusen;Age related macular degeneration 4;Hemolytic uremic syndrome, atypical, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_basal_laminar_drusen_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_age_related_macular_degeneration_4 Factor H deficiency;Basal laminar drusen;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_hemolytic_uremic_syndrome_atypical_susceptibility_to_1 Factor H deficiency;Hemolytic uremic syndrome, atypical, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_age_related_macular_degeneration_4_basal_laminar_drusen Factor H deficiency;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Age related macular degeneration 4;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:factor_h_deficiency_hemolytic_uremic_syndrome_atypical_susceptibility_to_1_basal_laminar_drusen_age_related_macular_degeneration_4 Factor H deficiency;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:factor_i_deficiency_age_related_macular_degeneration_13_atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly Factor I deficiency;Age related macular degeneration 13;Atypical hemolytic-uremic syndrome with I factor anomaly Supplemental_disease_name DISEASE_NAME:factor_i_deficiency_atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly Supplemental_disease_name DISEASE_NAME:factor_i_deficiency_atypical_hemolytic_uremic_syndrome_with_i_factor_anomaly_age_related_macular_degeneration_13 Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13 Supplemental_disease_name DISEASE_NAME:factor_ix_polymorphism FACTOR IX POLYMORPHISM Supplemental_disease_name DISEASE_NAME:factor_v_and_factor_viii_combined_deficiency Factor V and factor VIII combined deficiency Supplemental_disease_name DISEASE_NAME:factor_v_and_factor_viii_combined_deficiency_of_type_1 Factor V and factor VIII, combined deficiency of, type 1 Supplemental_disease_name DISEASE_NAME:factor_v_deficiency_hereditary_factor_viii_deficiency_disease_factor_v_and_factor_viii_combined_deficiency_of_type_1 Factor V deficiency;Hereditary factor VIII deficiency disease;Factor V and factor VIII, combined deficiency of, type 1 Supplemental_disease_name DISEASE_NAME:factor_v_deficiency_ischemic_stroke_thrombophilia_due_to_activated_protein_c_resistance_pregnancy_loss_recurrent_susceptibility_to_1_budd_chiari_syndrome Factor V deficiency;Ischemic stroke;Thrombophilia due to activated protein C resistance;Pregnancy loss, recurrent, susceptibility to, 1;Budd-Chiari syndrome Supplemental_disease_name DISEASE_NAME:factor_v_hong_kong Factor V Hong Kong Supplemental_disease_name DISEASE_NAME:factor_vii_activating_protease_marburg_i Factor VII-activating protease marburg I Supplemental_disease_name DISEASE_NAME:factor_vii_activating_protease_marburg_i_polymorphism FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM Supplemental_disease_name DISEASE_NAME:factor_vii_padua Factor VII Padua Supplemental_disease_name DISEASE_NAME:factor_viii_east_hartford FACTOR VIII (EAST HARTFORD) Supplemental_disease_name DISEASE_NAME:factor_viii_okayama FACTOR VIII (OKAYAMA) Supplemental_disease_name DISEASE_NAME:factor_viii_polymorphism FACTOR VIII POLYMORPHISM Supplemental_disease_name DISEASE_NAME:factor_x_deficiency_autosomal_dominant Factor x deficiency, autosomal dominant Supplemental_disease_name DISEASE_NAME:factor_xi Factor XI Supplemental_disease_name DISEASE_NAME:factor_xii_locarno FACTOR XII (LOCARNO) Supplemental_disease_name DISEASE_NAME:factor_xii_washington_d_c FACTOR XII (WASHINGTON D.C.) Supplemental_disease_name DISEASE_NAME:factor_xiii_a_subunit_deficiency_of Factor XIII, A subunit, deficiency of Supplemental_disease_name DISEASE_NAME:factor_xiii_a_subunit_deficiency_of_thrombophilia_due_to_thrombin_defect Factor XIII, A subunit, deficiency of;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:factor_xiii_a_subunit_deficiency_of_thrombophilia_due_to_thrombin_defect_myocardial_infarction_susceptibility_to Factor XIII, A subunit, deficiency of;Thrombophilia due to thrombin defect;Myocardial infarction, susceptibility to Supplemental_disease_name DISEASE_NAME:factor_xiii_b_subunit_deficiency_of Factor XIII, b subunit, deficiency of Supplemental_disease_name DISEASE_NAME:factor_xiii_subunit_a_deficiency Factor XIII subunit A deficiency Supplemental_disease_name DISEASE_NAME:fadd_related_disorder FADD-related disorder Supplemental_disease_name DISEASE_NAME:fadd_related_immunodeficiency FADD-related immunodeficiency Supplemental_disease_name DISEASE_NAME:fah_related_disorder FAH-related disorder Supplemental_disease_name DISEASE_NAME:failure_to_thrive Failure to thrive Supplemental_disease_name DISEASE_NAME:failure_to_thrive_cholestatic_liver_disease_global_proximal_tubulopathy_premature_ovarian_insufficiency_cutaneous_photosensitivity Failure to thrive;Cholestatic liver disease;Global proximal tubulopathy;Premature ovarian insufficiency;Cutaneous photosensitivity Supplemental_disease_name DISEASE_NAME:failure_to_thrive_congenital_heart_disease_abnormal_skeletal_morphology Failure to thrive;Congenital heart disease;Abnormal skeletal morphology Supplemental_disease_name DISEASE_NAME:failure_to_thrive_global_developmental_delay Failure to thrive;Global developmental delay Supplemental_disease_name DISEASE_NAME:failure_to_thrive_global_developmental_delay_hypothyroidism Failure to thrive;Global developmental delay;Hypothyroidism Supplemental_disease_name DISEASE_NAME:failure_to_thrive_global_developmental_delay_microcephaly_epilepsy Failure to thrive;Global developmental delay;Microcephaly;Epilepsy Supplemental_disease_name DISEASE_NAME:failure_to_thrive_hypotonia Failure to thrive;Hypotonia Supplemental_disease_name DISEASE_NAME:failure_to_thrive_in_infancy_diarrhea_impaired_feeding_ability_chronic_diarrhea_failure_to_thrive Failure to thrive in infancy;Diarrhea;Impaired feeding ability;Chronic diarrhea;Failure to thrive Supplemental_disease_name DISEASE_NAME:failure_to_thrive_pectus_excavatum_ptosis_moderate_intellectual_disability_generalized_hypotonia Failure to thrive;Pectus excavatum;Ptosis;Moderate intellectual disability;Generalized hypotonia Supplemental_disease_name DISEASE_NAME:failure_to_thrive_spastic_hemiparesis_congenital_blindness Failure to thrive;Spastic hemiparesis;Congenital blindness Supplemental_disease_name DISEASE_NAME:failure_to_thrive_spastic_paraplegia Failure to thrive;Spastic paraplegia Supplemental_disease_name DISEASE_NAME:fam111a_related_disorder FAM111A-related disorder Supplemental_disease_name DISEASE_NAME:fam111b_related_disorder FAM111B-related disorder Supplemental_disease_name DISEASE_NAME:fam131a_related_disorder FAM131A-related disorder Supplemental_disease_name DISEASE_NAME:fam136a_related_disorder FAM136A-related disorder Supplemental_disease_name DISEASE_NAME:fam13a_related_pulmonary_fibrosis FAM13A-related pulmonary fibrosis Supplemental_disease_name DISEASE_NAME:fam149b1_related_disorder FAM149B1-related disorder Supplemental_disease_name DISEASE_NAME:fam157b_related_disorder FAM157B-related disorder Supplemental_disease_name DISEASE_NAME:fam161a_related_disorder FAM161A-related disorder Supplemental_disease_name DISEASE_NAME:fam177a1_related_disorder FAM177A1-related disorder Supplemental_disease_name DISEASE_NAME:fam20a_related_disorder FAM20A-related disorder Supplemental_disease_name DISEASE_NAME:fam20b_related_condition FAM20B-related condition Supplemental_disease_name DISEASE_NAME:fam20b_related_disorder FAM20B-related disorder Supplemental_disease_name DISEASE_NAME:fam20c_related_disorder FAM20C-related disorder Supplemental_disease_name DISEASE_NAME:fam234b_related_disorder FAM234B-related disorder Supplemental_disease_name DISEASE_NAME:fam38b_related_disorder FAM38B-related disorder Supplemental_disease_name DISEASE_NAME:fam47a_related_disorder FAM47A-related disorder Supplemental_disease_name DISEASE_NAME:fam47b_related_disorder FAM47B-related disorder Supplemental_disease_name DISEASE_NAME:fam50a_related_disorder FAM50A-related disorder Supplemental_disease_name DISEASE_NAME:fam83h_related_disorder FAM83H-related disorder Supplemental_disease_name DISEASE_NAME:fam98c_related_disorder FAM98C-related disorder Supplemental_disease_name DISEASE_NAME:familial_acute_necrotizing_encephalopathy Familial acute necrotizing encephalopathy Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_apc_related_attenuated_familial_adenomatous_polyposis Familial adenomatous polyposis 1;APC-related attenuated familial adenomatous polyposis Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_colorectal_cancer Familial adenomatous polyposis 1;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_desmoid_disease_hereditary Familial adenomatous polyposis 1;Desmoid disease, hereditary Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_desmoid_disease_hereditary_colorectal_cancer_gastric_cancer Familial adenomatous polyposis 1;Desmoid disease, hereditary;Colorectal cancer;Gastric cancer Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_desmoid_disease_hereditary_gastric_cancer Familial adenomatous polyposis 1;Desmoid disease, hereditary;Gastric cancer Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach_apc_related_attenuated_familial_adenomatous_polyposis Familial adenomatous polyposis 1;Gastric adenocarcinoma and proximal polyposis of the stomach;APC-related attenuated familial adenomatous polyposis Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_neoplasm_of_stomach Familial adenomatous polyposis 1;Neoplasm of stomach Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_neoplasm_of_stomach_desmoid_disease_hereditary_carcinoma_of_colon_hepatocellular_carcinoma Familial adenomatous polyposis 1;Neoplasm of stomach;Desmoid disease, hereditary;Carcinoma of colon;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_neoplasm_of_stomach_hepatocellular_carcinoma_carcinoma_of_colon_desmoid_disease_hereditary Familial adenomatous polyposis 1;Neoplasm of stomach;Hepatocellular carcinoma;Carcinoma of colon;Desmoid disease, hereditary Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_1_neoplasm_of_stomach_hepatocellular_carcinoma_desmoid_disease_hereditary_carcinoma_of_colon Familial adenomatous polyposis 1;Neoplasm of stomach;Hepatocellular carcinoma;Desmoid disease, hereditary;Carcinoma of colon Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_2_gastric_cancer Familial adenomatous polyposis 2;Gastric cancer Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_2_neoplasm_of_stomach Familial adenomatous polyposis 2;Neoplasm of stomach Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_2_neoplasm_of_stomach_pilomatrixoma Familial adenomatous polyposis 2;Neoplasm of stomach;Pilomatrixoma Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_4_endometrial_carcinoma Familial adenomatous polyposis 4;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:familial_adenomatous_polyposis_due_to_5q22_2_microdeletion Familial adenomatous polyposis due to 5q22.2 microdeletion Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy Familial amyloid nephropathy Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_cold_autoinflammatory_syndrome_1 Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome;Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1 Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome;Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1 Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation;Chronic infantile neurological, cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_cold_autoinflammatory_syndrome_1 Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Familial amyloid nephropathy with urticaria AND deafness;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial amyloid nephropathy with urticaria AND deafness;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_amyloid_nephropathy_with_urticaria_and_deafness_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial amyloid nephropathy with urticaria AND deafness;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_amyloid_neuropathy Familial amyloid neuropathy Supplemental_disease_name DISEASE_NAME:familial_amyloid_polyneuropathy_iowa_type Familial amyloid polyneuropathy, Iowa type Supplemental_disease_name DISEASE_NAME:familial_amyloid_polyneuropathy_iowa_type_hypoalphalipoproteinemia_primary_2_hypoalphalipoproteinemia_primary_2_intermediate Familial amyloid polyneuropathy, Iowa type;Hypoalphalipoproteinemia, primary, 2;Hypoalphalipoproteinemia, primary, 2, intermediate Supplemental_disease_name DISEASE_NAME:familial_amyloid_polyneuropathy_iowa_type_hypoalphalipoproteinemia_primary_2_intermediate_hypoalphalipoproteinemia_primary_2 Familial amyloid polyneuropathy, Iowa type;Hypoalphalipoproteinemia, primary, 2, intermediate;Hypoalphalipoproteinemia, primary, 2 Supplemental_disease_name DISEASE_NAME:familial_aortic_aneurysms Familial aortic aneurysms Supplemental_disease_name DISEASE_NAME:familial_aortopathy Familial aortopathy Supplemental_disease_name DISEASE_NAME:familial_atrial_myxoma Familial atrial myxoma Supplemental_disease_name DISEASE_NAME:familial_atrial_myxoma_acrodysostosis_1_with_or_without_hormone_resistance_carney_complex_type_1_pigmented_nodular_adrenocortical_disease_primary_1 Familial atrial myxoma;Acrodysostosis 1 with or without hormone resistance;Carney complex, type 1;Pigmented nodular adrenocortical disease, primary, 1 Supplemental_disease_name DISEASE_NAME:familial_atrial_myxoma_carney_complex_type_1_pigmented_nodular_adrenocortical_disease_primary_1_acrodysostosis_1_with_or_without_hormone_resistance Familial atrial myxoma;Carney complex, type 1;Pigmented nodular adrenocortical disease, primary, 1;Acrodysostosis 1 with or without hormone resistance Supplemental_disease_name DISEASE_NAME:familial_atrial_myxoma_pigmented_nodular_adrenocortical_disease_primary_1_carney_complex_type_1_acrodysostosis_1_with_or_without_hormone_resistance Familial atrial myxoma;Pigmented nodular adrenocortical disease, primary, 1;Carney complex, type 1;Acrodysostosis 1 with or without hormone resistance Supplemental_disease_name DISEASE_NAME:familial_atrioventricular_septal_defect Familial atrioventricular septal defect Supplemental_disease_name DISEASE_NAME:familial_atrioventricular_septal_defect_penile_hypospadias_abnormality_of_the_anus Familial atrioventricular septal defect;Penile hypospadias;Abnormality of the anus Supplemental_disease_name DISEASE_NAME:familial_atypical_hemolytic_uremic_syndrome Familial Atypical Hemolytic-Uremic Syndrome Supplemental_disease_name DISEASE_NAME:familial_autism_spectrum_disorder Familial Autism Spectrum Disorder Supplemental_disease_name DISEASE_NAME:familial_benign_flecked_retina Familial benign flecked retina Supplemental_disease_name DISEASE_NAME:familial_benign_pemphigus Familial benign pemphigus Supplemental_disease_name DISEASE_NAME:familial_breast_and_ovarian_cancer Familial breast and ovarian cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast Familial cancer of breast Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_ataxia_telangiectasia_syndrome Familial cancer of breast;Ataxia-telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_ataxia_telangiectasia_syndrome_hereditary_cancer_predisposing_syndrome Familial cancer of breast;Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_ataxia_telangiectasia_syndrome_pancreatic_cancer_susceptibility_to Familial cancer of breast;Ataxia-telangiectasia syndrome;Pancreatic cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_blepharocheilodontic_syndrome_1_endometrial_carcinoma_hereditary_diffuse_gastric_adenocarcinoma_ovarian_cancer Familial cancer of breast;Blepharocheilodontic syndrome 1;Endometrial carcinoma;Hereditary diffuse gastric adenocarcinoma;Ovarian cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_blepharocheilodontic_syndrome_1_endometrial_carcinoma_ovarian_cancer_hereditary_diffuse_gastric_adenocarcinoma Familial cancer of breast;Blepharocheilodontic syndrome 1;Endometrial carcinoma;Ovarian cancer;Hereditary diffuse gastric adenocarcinoma Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_blepharocheilodontic_syndrome_1_hereditary_diffuse_gastric_adenocarcinoma_endometrial_carcinoma_ovarian_cancer Familial cancer of breast;Blepharocheilodontic syndrome 1;Hereditary diffuse gastric adenocarcinoma;Endometrial carcinoma;Ovarian cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_bone_osteosarcoma_chek2_related_cancer_predisposition_colorectal_cancer_prostate_cancer Familial cancer of breast;Bone osteosarcoma;CHEK2-related cancer predisposition;Colorectal cancer;Prostate cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_bone_osteosarcoma_chek2_related_cancer_predisposition_prostate_cancer Familial cancer of breast;Bone osteosarcoma;CHEK2-related cancer predisposition;Prostate cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_bone_osteosarcoma_colorectal_cancer_chek2_related_cancer_predisposition_prostate_cancer Familial cancer of breast;Bone osteosarcoma;Colorectal cancer;CHEK2-related cancer predisposition;Prostate cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_bone_osteosarcoma_familial_prostate_cancer_chek2_related_cancer_predisposition_colorectal_cancer Familial cancer of breast;Bone osteosarcoma;Familial prostate cancer;CHEK2-related cancer predisposition;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_bone_osteosarcoma_prostate_cancer_chek2_related_cancer_predisposition Familial cancer of breast;Bone osteosarcoma;Prostate cancer;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_bone_osteosarcoma_prostate_cancer_chek2_related_cancer_predisposition_colorectal_cancer Familial cancer of breast;Bone osteosarcoma;Prostate cancer;CHEK2-related cancer predisposition;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_bone_osteosarcoma_prostate_cancer_colorectal_cancer_chek2_related_cancer_predisposition Familial cancer of breast;Bone osteosarcoma;Prostate cancer;Colorectal cancer;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_1_fanconi_anemia_complementation_group_s Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_1_fanconi_anemia_complementation_group_s_pancreatic_cancer_susceptibility_to_4 Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_1_pancreatic_cancer_susceptibility_to_4_fanconi_anemia_complementation_group_s Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_2 Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_2_pancreatic_cancer_susceptibility_to_2 Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 2;Pancreatic cancer, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_chek2_related_cancer_predisposition Familial cancer of breast;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_chek2_related_cancer_predisposition_bone_osteosarcoma_colorectal_cancer_prostate_cancer Familial cancer of breast;CHEK2-related cancer predisposition;Bone osteosarcoma;Colorectal cancer;Prostate cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_chek2_related_cancer_predisposition_bone_osteosarcoma_prostate_cancer Familial cancer of breast;CHEK2-related cancer predisposition;Bone osteosarcoma;Prostate cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_chek2_related_cancer_predisposition_prostate_cancer_colorectal_cancer_bone_osteosarcoma Familial cancer of breast;CHEK2-related cancer predisposition;Prostate cancer;Colorectal cancer;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_colorectal_cancer Familial cancer of breast;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_colorectal_cancer_bone_osteosarcoma_prostate_cancer_chek2_related_cancer_predisposition Familial cancer of breast;Colorectal cancer;Bone osteosarcoma;Prostate cancer;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_colorectal_cancer_chek2_related_cancer_predisposition_bone_osteosarcoma_prostate_cancer Familial cancer of breast;Colorectal cancer;CHEK2-related cancer predisposition;Bone osteosarcoma;Prostate cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_colorectal_cancer_ovarian_cancer_cowden_syndrome_6_proteus_syndrome Familial cancer of breast;Colorectal cancer;Ovarian cancer;Cowden syndrome 6;Proteus syndrome Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_colorectal_cancer_prostate_cancer Familial cancer of breast;Colorectal cancer;Prostate cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_cowden_syndrome_6_proteus_syndrome_colorectal_cancer_ovarian_cancer Familial cancer of breast;Cowden syndrome 6;Proteus syndrome;Colorectal cancer;Ovarian cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_cowden_syndrome_6_proteus_syndrome_ovarian_cancer_colorectal_cancer Familial cancer of breast;Cowden syndrome 6;Proteus syndrome;Ovarian cancer;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_estrogen_resistance_syndrome_migraine_with_or_without_aura_susceptibility_to_1 Familial cancer of breast;Estrogen resistance syndrome;Migraine with or without aura, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_estrogen_resistance_syndrome_myocardial_infarction_susceptibility_to_migraine_with_or_without_aura_susceptibility_to_1 Familial cancer of breast;Estrogen resistance syndrome;Myocardial infarction, susceptibility to;Migraine with or without aura, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_familial_pancreatic_carcinoma_li_fraumeni_syndrome_1 Familial cancer of breast;Familial pancreatic carcinoma;Li-Fraumeni syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_familial_prostate_cancer Familial cancer of breast;Familial prostate cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_familial_prostate_cancer_colorectal_cancer Familial cancer of breast;Familial prostate cancer;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_fanconi_anemia_complementation_group_j Familial cancer of breast;Fanconi anemia complementation group J Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_fanconi_anemia_complementation_group_n_familial_ovarian_cancer Familial cancer of breast;Fanconi anemia complementation group N;Familial ovarian cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_fanconi_anemia_complementation_group_n_hereditary_cancer_predisposing_syndrome Familial cancer of breast;Fanconi anemia complementation group N;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_fanconi_anemia_complementation_group_n_pancreatic_cancer_susceptibility_to_3 Familial cancer of breast;Fanconi anemia complementation group N;Pancreatic cancer, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_fanconi_anemia_complementation_group_s_breast_ovarian_cancer_familial_susceptibility_to_1 Familial cancer of breast;Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_fanconi_anemia_complementation_group_s_breast_ovarian_cancer_familial_susceptibility_to_1_pancreatic_cancer_susceptibility_to_4 Familial cancer of breast;Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_fanconi_anemia_complementation_group_s_pancreatic_cancer_susceptibility_to_4_breast_ovarian_cancer_familial_susceptibility_to_1 Familial cancer of breast;Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_hereditary_cancer_predisposing_syndrome Familial cancer of breast;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_hereditary_diffuse_gastric_adenocarcinoma Familial cancer of breast;Hereditary diffuse gastric adenocarcinoma Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_hereditary_diffuse_gastric_adenocarcinoma_ovarian_cancer_blepharocheilodontic_syndrome_1_endometrial_carcinoma Familial cancer of breast;Hereditary diffuse gastric adenocarcinoma;Ovarian cancer;Blepharocheilodontic syndrome 1;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_intellectual_developmental_disorder_with_gastrointestinal_difficulties_and_high_pain_threshold Familial cancer of breast;Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_li_fraumeni_syndrome_1 Familial cancer of breast;Li-Fraumeni syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_microcephaly_normal_intelligence_and_immunodeficiency Familial cancer of breast;Microcephaly, normal intelligence and immunodeficiency Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_nijmegen_breakage_syndrome_like_disorder Familial cancer of breast;Nijmegen breakage syndrome-like disorder Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_ovarian_cancer Familial cancer of breast;Ovarian cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_ovarian_cancer_blepharocheilodontic_syndrome_1_endometrial_carcinoma_hereditary_diffuse_gastric_adenocarcinoma Familial cancer of breast;Ovarian cancer;Blepharocheilodontic syndrome 1;Endometrial carcinoma;Hereditary diffuse gastric adenocarcinoma Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_ovarian_cancer_proteus_syndrome_cowden_syndrome_6_colorectal_cancer Familial cancer of breast;Ovarian cancer;Proteus syndrome;Cowden syndrome 6;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_pancreatic_cancer_susceptibility_to_3_fanconi_anemia_complementation_group_n Familial cancer of breast;Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_pancreatic_cancer_susceptibility_to_4_breast_ovarian_cancer_familial_susceptibility_to_1_fanconi_anemia_complementation_group_s Familial cancer of breast;Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_pancreatic_cancer_susceptibility_to_4_fanconi_anemia_complementation_group_s_breast_ovarian_cancer_familial_susceptibility_to_1 Familial cancer of breast;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_prostate_cancer_bone_osteosarcoma_chek2_related_cancer_predisposition Familial cancer of breast;Prostate cancer;Bone osteosarcoma;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_prostate_cancer_bone_osteosarcoma_chek2_related_cancer_predisposition_colorectal_cancer Familial cancer of breast;Prostate cancer;Bone osteosarcoma;CHEK2-related cancer predisposition;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_prostate_cancer_chek2_related_cancer_predisposition_bone_osteosarcoma Familial cancer of breast;Prostate cancer;CHEK2-related cancer predisposition;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:familial_cancer_of_breast_proteus_syndrome_cowden_syndrome_6_colorectal_cancer_ovarian_cancer Familial cancer of breast;Proteus syndrome;Cowden syndrome 6;Colorectal cancer;Ovarian cancer Supplemental_disease_name DISEASE_NAME:familial_cardiofaciocutaneous_syndrome Familial cardiofaciocutaneous syndrome Supplemental_disease_name DISEASE_NAME:familial_cardiomyopathy Familial cardiomyopathy Supplemental_disease_name DISEASE_NAME:familial_cavitary_optic_disk_anomaly Familial cavitary optic disk anomaly Supplemental_disease_name DISEASE_NAME:familial_chronic_mucocutaneous_candidiasis Familial chronic mucocutaneous candidiasis Supplemental_disease_name DISEASE_NAME:familial_clubfoot_due_to_17q23_1q23_2_microduplication Familial clubfoot due to 17q23.1q23.2 microduplication Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome;Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_familial_amyloid_nephropathy_with_urticaria_and_deafness Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_2_susceptibility_to FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_3_autoinflammation_plcg2_associated_antibody_deficiency_immune_dysregulation Familial cold autoinflammatory syndrome 3;Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Supplemental_disease_name DISEASE_NAME:familial_cold_autoinflammatory_syndrome_4_periodic_fever_infantile_enterocolitis_autoinflammatory_syndrome Familial cold autoinflammatory syndrome 4;Periodic fever-infantile enterocolitis-autoinflammatory syndrome Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer Familial colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer_facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome Familial colorectal cancer;Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer_lynch_syndrome Familial colorectal cancer;Lynch syndrome Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer_mandibular_hypoplasia_deafness_progeroid_syndrome Familial colorectal cancer;Mandibular hypoplasia-deafness-progeroid syndrome Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer_type_x Familial colorectal cancer type X Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer_type_x_diamond_blackfan_anemia Familial colorectal cancer type X;Diamond-Blackfan anemia Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer_type_x_li_fraumeni_syndrome Familial colorectal cancer type X;Li-Fraumeni syndrome Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer_type_x_nephroblastoma Familial colorectal cancer type X;Nephroblastoma Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer_type_x_polymerase_proofreading_related_adenomatous_polyposis Familial colorectal cancer type X;Polymerase proofreading-related adenomatous polyposis Supplemental_disease_name DISEASE_NAME:familial_congenital_diaphragmatic_hernia Familial congenital diaphragmatic hernia Supplemental_disease_name DISEASE_NAME:familial_congenital_nasolacrimal_duct_obstruction Familial congenital nasolacrimal duct obstruction Supplemental_disease_name DISEASE_NAME:familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Supplemental_disease_name DISEASE_NAME:familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome_seckel_syndrome_1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome;Seckel syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_cylindromatosis Familial cylindromatosis Supplemental_disease_name DISEASE_NAME:familial_cylindromatosis_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_8_trichoepithelioma_multiple_familial_1_brooke_spiegler_syndrome Familial cylindromatosis;Frontotemporal dementia and/or amyotrophic lateral sclerosis 8;Trichoepithelioma, multiple familial, 1;Brooke-Spiegler syndrome Supplemental_disease_name DISEASE_NAME:familial_cystic_renal_disease Familial cystic renal disease Supplemental_disease_name DISEASE_NAME:familial_digital_arthropathy_brachydactyly Familial digital arthropathy-brachydactyly Supplemental_disease_name DISEASE_NAME:familial_dilated_cardiomyopathy_and_peripheral_neuropathy Familial dilated cardiomyopathy and peripheral neuropathy Supplemental_disease_name DISEASE_NAME:familial_dysautonomia_medulloblastoma Familial dysautonomia;Medulloblastoma Supplemental_disease_name DISEASE_NAME:familial_dysfibrinogenemia Familial dysfibrinogenemia Supplemental_disease_name DISEASE_NAME:familial_dysfibrinogenemia_congenital_afibrinogenemia Familial dysfibrinogenemia;Congenital afibrinogenemia Supplemental_disease_name DISEASE_NAME:familial_dysfibrinogenemia_congenital_afibrinogenemia_familial_visceral_amyloidosis_ostertag_type Familial dysfibrinogenemia;Congenital afibrinogenemia;Familial visceral amyloidosis, Ostertag type Supplemental_disease_name DISEASE_NAME:familial_dysfibrinogenemia_familial_visceral_amyloidosis_ostertag_type_congenital_afibrinogenemia Familial dysfibrinogenemia;Familial visceral amyloidosis, Ostertag type;Congenital afibrinogenemia Supplemental_disease_name DISEASE_NAME:familial_early_onset_deep_venous_thrombosis Familial early-onset deep venous thrombosis Supplemental_disease_name DISEASE_NAME:familial_episodic_pain_syndrome_with_predominantly_lower_limb_involvement Familial episodic pain syndrome with predominantly lower limb involvement Supplemental_disease_name DISEASE_NAME:familial_episodic_pain_syndrome_with_predominantly_lower_limb_involvement_hereditary_sensory_and_autonomic_neuropathy_type_7 Familial episodic pain syndrome with predominantly lower limb involvement;Hereditary sensory and autonomic neuropathy type 7 Supplemental_disease_name DISEASE_NAME:familial_episodic_pain_syndrome_with_predominantly_upper_body_involvement Familial episodic pain syndrome with predominantly upper body involvement Supplemental_disease_name DISEASE_NAME:familial_expansile_osteolysis_autosomal_recessive_osteopetrosis_7_paget_disease_of_bone_2_early_onset Familial expansile osteolysis;Autosomal recessive osteopetrosis 7;Paget disease of bone 2, early-onset Supplemental_disease_name DISEASE_NAME:familial_expansile_osteolysis_paget_disease_of_bone_2_early_onset_autosomal_recessive_osteopetrosis_7 Familial expansile osteolysis;Paget disease of bone 2, early-onset;Autosomal recessive osteopetrosis 7 Supplemental_disease_name DISEASE_NAME:familial_gestational_hyperthyroidism_familial_hyperthyroidism_due_to_mutations_in_tsh_receptor_hypothyroidism_due_to_tsh_receptor_mutations Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor;Hypothyroidism due to TSH receptor mutations Supplemental_disease_name DISEASE_NAME:familial_gestational_hyperthyroidism_hypothyroidism_due_to_tsh_receptor_mutations_familial_hyperthyroidism_due_to_mutations_in_tsh_receptor Familial gestational hyperthyroidism;Hypothyroidism due to TSH receptor mutations;Familial hyperthyroidism due to mutations in TSH receptor Supplemental_disease_name DISEASE_NAME:familial_gge Familial GGE Supplemental_disease_name DISEASE_NAME:familial_hematuria Familial hematuria Supplemental_disease_name DISEASE_NAME:familial_hemolytic_anemia Familial hemolytic anemia Supplemental_disease_name DISEASE_NAME:familial_hemophagocytic_lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis Supplemental_disease_name DISEASE_NAME:familial_hemophagocytic_lymphohistiocytosis_2_aplastic_anemia_lymphoma_non_hodgkin_familial Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia;Lymphoma, non-Hodgkin, familial Supplemental_disease_name DISEASE_NAME:familial_hemophagocytic_lymphohistiocytosis_2_lymphoma_non_hodgkin_familial_aplastic_anemia Familial hemophagocytic lymphohistiocytosis 2;Lymphoma, non-Hodgkin, familial;Aplastic anemia Supplemental_disease_name DISEASE_NAME:familial_hemophagocytic_lymphohistiocytosis_type_1 Familial hemophagocytic lymphohistiocytosis type 1 Supplemental_disease_name DISEASE_NAME:familial_hyperaldosteronism_type_ii Familial hyperaldosteronism type II Supplemental_disease_name DISEASE_NAME:familial_hyperaldosteronism_type_ii_epilepsy_idiopathic_generalized_susceptibility_to_11_leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema Familial hyperaldosteronism type II;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema Supplemental_disease_name DISEASE_NAME:familial_hyperaldosteronism_type_ii_leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema_epilepsy_idiopathic_generalized_susceptibility_to_11 Familial hyperaldosteronism type II;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Epilepsy, idiopathic generalized, susceptibility to, 11 Supplemental_disease_name DISEASE_NAME:familial_hyperaldosteronism_type_iii Familial hyperaldosteronism type III Supplemental_disease_name DISEASE_NAME:familial_hyperaldosteronism_type_iii_long_qt_syndrome_13 Familial hyperaldosteronism type III;Long QT syndrome 13 Supplemental_disease_name DISEASE_NAME:familial_hypercholesterolemia_familial_hypobetalipoproteinemia_1 Familial hypercholesterolemia;Familial hypobetalipoproteinemia 1 Supplemental_disease_name DISEASE_NAME:familial_hypercholesterolemia_hyperlipoproteinemia_familial_type_3_hyperlipoproteinemia Familial hypercholesterolemia;Hyperlipoproteinemia;Familial type 3 hyperlipoproteinemia Supplemental_disease_name DISEASE_NAME:familial_hyperinsulinemia Familial hyperinsulinemia Supplemental_disease_name DISEASE_NAME:familial_hyperinsulinemic_hypoglycemia familial hyperinsulinemic hypoglycemia Supplemental_disease_name DISEASE_NAME:familial_hyperinsulinism Familial hyperinsulinism Supplemental_disease_name DISEASE_NAME:familial_hyperinsulinism_permanent_neonatal_diabetes_mellitus Familial hyperinsulinism;Permanent neonatal diabetes mellitus Supplemental_disease_name DISEASE_NAME:familial_hyperparathyroidism_or_hypocalciuric_hypercalcaemia Familial hyperparathyroidism or Hypocalciuric hypercalcaemia Supplemental_disease_name DISEASE_NAME:familial_hyperprolactinemia Familial hyperprolactinemia Supplemental_disease_name DISEASE_NAME:familial_hyperprolactinemia_multiple_fibroadenoma_of_the_breast Familial hyperprolactinemia;Multiple fibroadenoma of the breast Supplemental_disease_name DISEASE_NAME:familial_hyperreninemic_hypoaldosteronism_type_2 Familial hyperreninemic hypoaldosteronism type 2 Supplemental_disease_name DISEASE_NAME:familial_hyperthyroidism_due_to_mutations_in_tsh_receptor Familial hyperthyroidism due to mutations in TSH receptor Supplemental_disease_name DISEASE_NAME:familial_hyperthyroidism_due_to_mutations_in_tsh_receptor_familial_gestational_hyperthyroidism_hypothyroidism_due_to_tsh_receptor_mutations Familial hyperthyroidism due to mutations in TSH receptor;Familial gestational hyperthyroidism;Hypothyroidism due to TSH receptor mutations Supplemental_disease_name DISEASE_NAME:familial_hyperthyroidism_due_to_mutations_in_tsh_receptor_hypothyroidism_due_to_tsh_receptor_mutations_familial_gestational_hyperthyroidism Familial hyperthyroidism due to mutations in TSH receptor;Hypothyroidism due to TSH receptor mutations;Familial gestational hyperthyroidism Supplemental_disease_name DISEASE_NAME:familial_hypertrophic_cardiomyopathy_22 Familial hypertrophic cardiomyopathy 22 Supplemental_disease_name DISEASE_NAME:familial_hypertrophic_cardiomyopathy_24 Familial hypertrophic cardiomyopathy 24 Supplemental_disease_name DISEASE_NAME:familial_hypertrophic_cardiomyopathy_with_wolff_parkinson_white_syndrome Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Supplemental_disease_name DISEASE_NAME:familial_hypoaldosteronism Familial hypoaldosteronism Supplemental_disease_name DISEASE_NAME:familial_hypobetalipoproteinemia_1_hypercholesterolemia_autosomal_dominant_type_b Familial hypobetalipoproteinemia 1;Hypercholesterolemia, autosomal dominant, type B Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_1_autosomal_dominant_hypocalcemia_1 Familial hypocalciuric hypercalcemia 1;Autosomal dominant hypocalcemia 1 Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_1_autosomal_dominant_hypocalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8_neonatal_severe_primary_hyperparathyroidism Familial hypocalciuric hypercalcemia 1;Autosomal dominant hypocalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8;Neonatal severe primary hyperparathyroidism Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_1_autosomal_dominant_hypocalcemia_1_neonatal_severe_primary_hyperparathyroidism_epilepsy_idiopathic_generalized_susceptibility_to_8 Familial hypocalciuric hypercalcemia 1;Autosomal dominant hypocalcemia 1;Neonatal severe primary hyperparathyroidism;Epilepsy, idiopathic generalized, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8_autosomal_dominant_hypocalcemia_1_neonatal_severe_primary_hyperparathyroidism Familial hypocalciuric hypercalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8;Autosomal dominant hypocalcemia 1;Neonatal severe primary hyperparathyroidism Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8_neonatal_severe_primary_hyperparathyroidism_autosomal_dominant_hypocalcemia_1 Familial hypocalciuric hypercalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8;Neonatal severe primary hyperparathyroidism;Autosomal dominant hypocalcemia 1 Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_1_neonatal_severe_primary_hyperparathyroidism Familial hypocalciuric hypercalcemia 1;Neonatal severe primary hyperparathyroidism Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_1_neonatal_severe_primary_hyperparathyroidism_autosomal_dominant_hypocalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8 Familial hypocalciuric hypercalcemia 1;Neonatal severe primary hyperparathyroidism;Autosomal dominant hypocalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_1_neonatal_severe_primary_hyperparathyroidism_epilepsy_idiopathic_generalized_susceptibility_to_8_autosomal_dominant_hypocalcemia_1 Familial hypocalciuric hypercalcemia 1;Neonatal severe primary hyperparathyroidism;Epilepsy, idiopathic generalized, susceptibility to, 8;Autosomal dominant hypocalcemia 1 Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_2_autosomal_dominant_hypocalcemia_2 Familial hypocalciuric hypercalcemia 2;Autosomal dominant hypocalcemia 2 Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_autosomal_dominant_hypocalcemia_1 Familial hypocalciuric hypercalcemia;Autosomal dominant hypocalcemia 1 Supplemental_disease_name DISEASE_NAME:familial_hypocalciuric_hypercalcemia_neonatal_severe_primary_hyperparathyroidism_autosomal_dominant_hypocalcemia_1_bartter_syndrome_with_hypocalcemia Familial hypocalciuric hypercalcemia;Neonatal severe primary hyperparathyroidism;Autosomal dominant hypocalcemia 1;Bartter syndrome with hypocalcemia Supplemental_disease_name DISEASE_NAME:familial_hypodysfibrinogenemia Familial hypodysfibrinogenemia Supplemental_disease_name DISEASE_NAME:familial_hypokalemia_hypomagnesemia Familial hypokalemia-hypomagnesemia Supplemental_disease_name DISEASE_NAME:familial_hypokalemia_hypomagnesemia_bartter_syndrome Familial hypokalemia-hypomagnesemia;Bartter syndrome Supplemental_disease_name DISEASE_NAME:familial_hypoparathyroidism Familial hypoparathyroidism Supplemental_disease_name DISEASE_NAME:familial_idiopathic_hypercalciuria Familial idiopathic hypercalciuria Supplemental_disease_name DISEASE_NAME:familial_idiopathic_inflammatory_myopathy Familial idiopathic inflammatory myopathy Supplemental_disease_name DISEASE_NAME:familial_idiopathic_steroid_resistant_nephrotic_syndrome Familial idiopathic steroid-resistant nephrotic syndrome Supplemental_disease_name DISEASE_NAME:familial_infantile_bilateral_striatal_necrosis Familial infantile bilateral striatal necrosis Supplemental_disease_name DISEASE_NAME:familial_infantile_myoclonic_epilepsy Familial infantile myoclonic epilepsy Supplemental_disease_name DISEASE_NAME:familial_infantile_myoclonic_epilepsy_developmental_and_epileptic_encephalopathy_16 Familial infantile myoclonic epilepsy;Developmental and epileptic encephalopathy, 16 Supplemental_disease_name DISEASE_NAME:familial_infantile_myoclonic_epilepsy_doors_syndrome_malignant_migrating_partial_seizures_of_infancy Familial infantile myoclonic epilepsy;DOORS syndrome;Malignant migrating partial seizures of infancy Supplemental_disease_name DISEASE_NAME:familial_interstitial_pneumonia_pulmonary_fibrosis Familial Interstitial Pneumonia;Pulmonary fibrosis Supplemental_disease_name DISEASE_NAME:familial_intrahepatic_cholestasis Familial intrahepatic cholestasis Supplemental_disease_name DISEASE_NAME:familial_intrahepatic_cholestasis_low_phospholipid_associated_cholelithiasis Familial intrahepatic cholestasis;Low phospholipid associated cholelithiasis Supplemental_disease_name DISEASE_NAME:familial_intrahepatic_cholestasis_type_1 Familial intrahepatic cholestasis type 1 Supplemental_disease_name DISEASE_NAME:familial_intrahepatic_cholestasis_type_2 Familial intrahepatic cholestasis type 2 Supplemental_disease_name DISEASE_NAME:familial_intrahepatic_cholestasis_type_3 Familial intrahepatic cholestasis type 3 Supplemental_disease_name DISEASE_NAME:familial_isolated_arrhythmogenic_right_ventricular_dysplasia Familial isolated arrhythmogenic right ventricular dysplasia Supplemental_disease_name DISEASE_NAME:familial_isolated_congenital_asplenia Familial isolated congenital asplenia Supplemental_disease_name DISEASE_NAME:familial_isolated_dilated_cardiomyopathy Familial isolated dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:familial_isolated_hyperparathyroidism Familial isolated hyperparathyroidism Supplemental_disease_name DISEASE_NAME:familial_isolated_pituitary_adenoma Familial isolated pituitary adenoma Supplemental_disease_name DISEASE_NAME:familial_isolated_restrictive_cardiomyopathy Familial isolated restrictive cardiomyopathy Supplemental_disease_name DISEASE_NAME:familial_juvenile_hyperuricemic_nephropathy_type_1 Familial juvenile hyperuricemic nephropathy type 1 Supplemental_disease_name DISEASE_NAME:familial_juvenile_hyperuricemic_nephropathy_type_2 Familial juvenile hyperuricemic nephropathy type 2 Supplemental_disease_name DISEASE_NAME:familial_juvenile_hyperuricemic_nephropathy_type_2_renal_tubular_dysgenesis_of_genetic_origin Familial juvenile hyperuricemic nephropathy type 2;Renal tubular dysgenesis of genetic origin Supplemental_disease_name DISEASE_NAME:familial_median_cleft_of_the_upper_and_lower_lips Familial median cleft of the upper and lower lips Supplemental_disease_name DISEASE_NAME:familial_mediterranean_fever_autosomal_dominant Familial Mediterranean fever, autosomal dominant Supplemental_disease_name DISEASE_NAME:familial_mediterranean_fever_autosomal_dominant_acute_febrile_neutrophilic_dermatosis_familial_mediterranean_fever Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis;Familial Mediterranean fever Supplemental_disease_name DISEASE_NAME:familial_mediterranean_fever_familial_mediterranean_fever_autosomal_dominant Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant Supplemental_disease_name DISEASE_NAME:familial_mediterranean_fever_familial_mediterranean_fever_autosomal_dominant_acute_febrile_neutrophilic_dermatosis Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_hereditary_insensitivity_to_pain_with_anhidrosis Familial medullary thyroid carcinoma;Hereditary insensitivity to pain with anhidrosis Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1 Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a_pheochromocytoma Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_pheochromocytoma_multiple_endocrine_neoplasia_type_2a Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Pheochromocytoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia Familial medullary thyroid carcinoma;Multiple endocrine neoplasia Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2 Familial medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2 Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_pheochromocytoma Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_hirschsprung_disease_susceptibility_to_1_pheochromocytoma Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2b_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a_pheochromocytoma Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2B;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:familial_medullary_thyroid_carcinoma_pheochromocytoma Familial medullary thyroid carcinoma;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:familial_meningioma_basal_cell_nevus_syndrome_2_joubert_syndrome_32_medulloblastoma Familial meningioma;Basal cell nevus syndrome 2;Joubert syndrome 32;Medulloblastoma Supplemental_disease_name DISEASE_NAME:familial_meningioma_basal_cell_nevus_syndrome_2_medulloblastoma_joubert_syndrome_32 Familial meningioma;Basal cell nevus syndrome 2;Medulloblastoma;Joubert syndrome 32 Supplemental_disease_name DISEASE_NAME:familial_meningioma_cebalid_syndrome Familial meningioma;CEBALID syndrome Supplemental_disease_name DISEASE_NAME:familial_meningioma_coffin_siris_syndrome_5 Familial meningioma;Coffin-Siris syndrome 5 Supplemental_disease_name DISEASE_NAME:familial_meningioma_cowden_syndrome_1_glioma_susceptibility_2_familial_prostate_cancer_macrocephaly_autism_syndrome Familial meningioma;Cowden syndrome 1;Glioma susceptibility 2;Familial prostate cancer;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:familial_meningioma_familial_prostate_cancer_cowden_syndrome_1_macrocephaly_autism_syndrome_glioma_susceptibility_2 Familial meningioma;Familial prostate cancer;Cowden syndrome 1;Macrocephaly-autism syndrome;Glioma susceptibility 2 Supplemental_disease_name DISEASE_NAME:familial_meningioma_familial_prostate_cancer_glioma_susceptibility_2_macrocephaly_autism_syndrome_cowden_syndrome_1 Familial meningioma;Familial prostate cancer;Glioma susceptibility 2;Macrocephaly-autism syndrome;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_meningioma_familial_prostate_cancer_macrocephaly_autism_syndrome_glioma_susceptibility_2_cowden_syndrome_1 Familial meningioma;Familial prostate cancer;Macrocephaly-autism syndrome;Glioma susceptibility 2;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_meningioma_glioma_susceptibility_2_cowden_syndrome_1_familial_prostate_cancer_macrocephaly_autism_syndrome Familial meningioma;Glioma susceptibility 2;Cowden syndrome 1;Familial prostate cancer;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:familial_meningioma_gorlin_syndrome_joubert_syndrome_32_medulloblastoma Familial meningioma;Gorlin syndrome;Joubert syndrome 32;Medulloblastoma Supplemental_disease_name DISEASE_NAME:familial_meningioma_joubert_syndrome_32_basal_cell_nevus_syndrome_2_medulloblastoma Familial meningioma;Joubert syndrome 32;Basal cell nevus syndrome 2;Medulloblastoma Supplemental_disease_name DISEASE_NAME:familial_meningioma_joubert_syndrome_32_medulloblastoma_basal_cell_nevus_syndrome_2 Familial meningioma;Joubert syndrome 32;Medulloblastoma;Basal cell nevus syndrome 2 Supplemental_disease_name DISEASE_NAME:familial_meningioma_macrocephaly_autism_syndrome_glioma_susceptibility_2_cowden_syndrome_1_prostate_cancer Familial meningioma;Macrocephaly-autism syndrome;Glioma susceptibility 2;Cowden syndrome 1;Prostate cancer Supplemental_disease_name DISEASE_NAME:familial_meningioma_medulloblastoma_basal_cell_nevus_syndrome_2_joubert_syndrome_32 Familial meningioma;Medulloblastoma;Basal cell nevus syndrome 2;Joubert syndrome 32 Supplemental_disease_name DISEASE_NAME:familial_meningioma_medulloblastoma_joubert_syndrome_32_basal_cell_nevus_syndrome_2 Familial meningioma;Medulloblastoma;Joubert syndrome 32;Basal cell nevus syndrome 2 Supplemental_disease_name DISEASE_NAME:familial_meningioma_medulloblastoma_joubert_syndrome_32_gorlin_syndrome Familial meningioma;Medulloblastoma;Joubert syndrome 32;Gorlin syndrome Supplemental_disease_name DISEASE_NAME:familial_meningioma_neurofibromatosis_type_2 Familial meningioma;Neurofibromatosis, type 2 Supplemental_disease_name DISEASE_NAME:familial_meningioma_neurofibromatosis_type_2_smarcb1_related_schwannomatosis Familial meningioma;Neurofibromatosis, type 2;SMARCB1-related schwannomatosis Supplemental_disease_name DISEASE_NAME:familial_meningioma_prostate_cancer_cowden_syndrome_1_glioma_susceptibility_2_macrocephaly_autism_syndrome Familial meningioma;Prostate cancer;Cowden syndrome 1;Glioma susceptibility 2;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:familial_meningioma_prostate_cancer_glioma_susceptibility_2_macrocephaly_autism_syndrome_cowden_syndrome_1 Familial meningioma;Prostate cancer;Glioma susceptibility 2;Macrocephaly-autism syndrome;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_monogenic_diabetes_maturity_onset_diabetes_of_the_young_4_neonatal_diabetes_mellitus Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus Supplemental_disease_name DISEASE_NAME:familial_multiple_meningioma Familial multiple meningioma Supplemental_disease_name DISEASE_NAME:familial_multiple_polyposis_syndrome Familial multiple polyposis syndrome Supplemental_disease_name DISEASE_NAME:familial_multiple_trichoepitheliomata Familial multiple trichoepitheliomata Supplemental_disease_name DISEASE_NAME:familial_myelodysplastic_syndrome Familial myelodysplastic syndrome Supplemental_disease_name DISEASE_NAME:familial_myelofibrosis Familial myelofibrosis Supplemental_disease_name DISEASE_NAME:familial_otitis_media Familial Otitis Media Supplemental_disease_name DISEASE_NAME:familial_ovarian_cancer Familial ovarian cancer Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_familial_colorectal_cancer_type_x Familial pancreatic carcinoma;Familial colorectal cancer type X Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_germ_cell_tumor_of_testis_peutz_jeghers_syndrome_melanoma_cutaneous_malignant_susceptibility_to_1 Familial pancreatic carcinoma;Germ cell tumor of testis;Peutz-Jeghers syndrome;Melanoma, cutaneous malignant, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_hereditary_breast_ovarian_cancer_syndrome Familial pancreatic carcinoma;Hereditary breast ovarian cancer syndrome Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_juvenile_polyposis_syndrome_myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Familial pancreatic carcinoma;Juvenile polyposis syndrome;Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_li_fraumeni_syndrome Familial pancreatic carcinoma;Li-Fraumeni syndrome Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_li_fraumeni_syndrome_1 Familial pancreatic carcinoma;Li-Fraumeni syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_melanoma_cutaneous_malignant_susceptibility_to_1_peutz_jeghers_syndrome_germ_cell_tumor_of_testis Familial pancreatic carcinoma;Melanoma, cutaneous malignant, susceptibility to, 1;Peutz-Jeghers syndrome;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_peutz_jeghers_syndrome Familial pancreatic carcinoma;Peutz-Jeghers syndrome Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_peutz_jeghers_syndrome_germ_cell_tumor_of_testis_melanoma_cutaneous_malignant_susceptibility_to_1 Familial pancreatic carcinoma;Peutz-Jeghers syndrome;Germ cell tumor of testis;Melanoma, cutaneous malignant, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma_peutz_jeghers_syndrome_melanoma_cutaneous_malignant_susceptibility_to_1_germ_cell_tumor_of_testis Familial pancreatic carcinoma;Peutz-Jeghers syndrome;Melanoma, cutaneous malignant, susceptibility to, 1;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:familial_papillary_thyroid_carcinoma_with_renal_papillary_neoplasia Familial papillary thyroid carcinoma with renal papillary neoplasia Supplemental_disease_name DISEASE_NAME:familial_partial_lipodystrophy_dunnigan_type_dilated_cardiomyopathy_1a Familial partial lipodystrophy, Dunnigan type;Dilated cardiomyopathy 1A Supplemental_disease_name DISEASE_NAME:familial_patent_arterial_duct Familial patent arterial duct Supplemental_disease_name DISEASE_NAME:familial_pityriasis_rubra_pilaris Familial pityriasis rubra pilaris Supplemental_disease_name DISEASE_NAME:familial_platelet_disorder Familial platelet disorder Supplemental_disease_name DISEASE_NAME:familial_porphyria_cutanea_tarda Familial porphyria cutanea tarda Supplemental_disease_name DISEASE_NAME:familial_progressive_retinal_dystrophy_iris_coloboma_congenital_cataract_syndrome Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Supplemental_disease_name DISEASE_NAME:familial_prostate_cancer Familial prostate cancer Supplemental_disease_name DISEASE_NAME:familial_prostate_cancer_bone_osteosarcoma_chek2_related_cancer_predisposition Familial prostate cancer;Bone osteosarcoma;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:familial_prostate_cancer_breast_ovarian_cancer_familial_susceptibility_to_2_familial_cancer_of_breast Familial prostate cancer;Breast-ovarian cancer, familial, susceptibility to, 2;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:familial_prostate_cancer_chek2_related_cancer_predisposition Familial prostate cancer;CHEK2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:familial_prostate_cancer_chek2_related_cancer_predisposition_bone_osteosarcoma Familial prostate cancer;CHEK2-related cancer predisposition;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:familial_prostate_cancer_cowden_syndrome_1_familial_meningioma_macrocephaly_autism_syndrome_glioma_susceptibility_2 Familial prostate cancer;Cowden syndrome 1;Familial meningioma;Macrocephaly-autism syndrome;Glioma susceptibility 2 Supplemental_disease_name DISEASE_NAME:familial_prostate_cancer_familial_cancer_of_breast Familial prostate cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:familial_prostate_cancer_familial_meningioma_glioma_susceptibility_2_cowden_syndrome_1_macrocephaly_autism_syndrome Familial prostate cancer;Familial meningioma;Glioma susceptibility 2;Cowden syndrome 1;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:familial_prostate_cancer_pancreatic_cancer_susceptibility_to_2_fanconi_anemia_complementation_group_d1_breast_ovarian_cancer_familial_susceptibility_to_2_familial_cancer_of_breast Familial prostate cancer;Pancreatic cancer, susceptibility to, 2;Fanconi anemia complementation group D1;Breast-ovarian cancer, familial, susceptibility to, 2;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:familial_pseudohyperkalemia Familial pseudohyperkalemia Supplemental_disease_name DISEASE_NAME:familial_renal_hypouricemia Familial renal hypouricemia Supplemental_disease_name DISEASE_NAME:familial_retinal_arterial_macroaneurysm Familial retinal arterial macroaneurysm Supplemental_disease_name DISEASE_NAME:familial_rhabdoid_tumours Familial rhabdoid tumours Supplemental_disease_name DISEASE_NAME:familial_scaphocephaly_syndrome_mcgillivray_type Familial scaphocephaly syndrome, McGillivray type Supplemental_disease_name DISEASE_NAME:familial_sick_sinus_syndrome Familial sick sinus syndrome Supplemental_disease_name DISEASE_NAME:familial_sleep_related_hypermotor_epilepsy Familial sleep-related hypermotor epilepsy Supplemental_disease_name DISEASE_NAME:familial_sleep_related_hypermotor_epilepsy_familial_focal_epilepsy_with_variable_foci Familial sleep-related hypermotor epilepsy;Familial focal epilepsy with variable foci Supplemental_disease_name DISEASE_NAME:familial_sleep_related_hypermotor_epilepsy_familial_focal_epilepsy_with_variable_foci_familial_temporal_lobe_epilepsy_2 Familial sleep-related hypermotor epilepsy;Familial focal epilepsy with variable foci;Familial temporal lobe epilepsy 2 Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome_colorectal_cancer_nonpapillary_renal_cell_carcinoma Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome;Colorectal cancer;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma_colorectal_cancer Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_colorectal_cancer_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Colorectal cancer;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_colorectal_cancer Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_1_colorectal_cancer_nonpapillary_renal_cell_carcinoma Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome 1;Colorectal cancer;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_1_nonpapillary_renal_cell_carcinoma_colorectal_cancer Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome 1;Nonpapillary renal cell carcinoma;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_colorectal_cancer_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Colorectal cancer;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma_colorectal_cancer_17p11_2_microduplication_syndrome Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;Colorectal cancer;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_colorectal_cancer_birt_hogg_dube_syndrome_17p11_2_microduplication_syndrome_nonpapillary_renal_cell_carcinoma Familial spontaneous pneumothorax;Colorectal cancer;Birt-Hogg-Dube syndrome;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_colorectal_cancer_birt_hogg_dube_syndrome_1_nonpapillary_renal_cell_carcinoma Familial spontaneous pneumothorax;Colorectal cancer;Birt-Hogg-Dube syndrome 1;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_colorectal_cancer_birt_hogg_dube_syndrome_nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome Familial spontaneous pneumothorax;Colorectal cancer;Birt-Hogg-Dube syndrome;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_colorectal_cancer_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_1 Familial spontaneous pneumothorax;Colorectal cancer;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome_colorectal_cancer Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_1_colorectal_cancer Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome 1;Colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_colorectal_cancer_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Colorectal cancer;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_colorectal_cancer_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome_1 Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Colorectal cancer;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_spontaneous_pneumothorax_nonpapillary_renal_cell_carcinoma_colorectal_cancer_birt_hogg_dube_syndrome_1 Familial spontaneous pneumothorax;Nonpapillary renal cell carcinoma;Colorectal cancer;Birt-Hogg-Dube syndrome 1 Supplemental_disease_name DISEASE_NAME:familial_temporal_lobe_epilepsy_5_febrile_seizures_familial_11 Familial temporal lobe epilepsy 5;Febrile seizures, familial, 11 Supplemental_disease_name DISEASE_NAME:familial_temporal_lobe_epilepsy_7_epilepsy_familial_temporal_lobe_1_norman_roberts_syndrome Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1;Norman-Roberts syndrome Supplemental_disease_name DISEASE_NAME:familial_temporal_lobe_epilepsy_7_norman_roberts_syndrome Familial temporal lobe epilepsy 7;Norman-Roberts syndrome Supplemental_disease_name DISEASE_NAME:familial_temporal_lobe_epilepsy_7_norman_roberts_syndrome_epilepsy_familial_temporal_lobe_1 Familial temporal lobe epilepsy 7;Norman-Roberts syndrome;Epilepsy, familial temporal lobe, 1 Supplemental_disease_name DISEASE_NAME:familial_thoracic_aortic_aneurysm Familial thoracic aortic aneurysm Supplemental_disease_name DISEASE_NAME:familial_thoracic_aortic_aneurysm_and_aortic_dissection Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:familial_thoracic_aortic_aneurysm_and_aortic_dissection_aneurysm_osteoarthritis_syndrome Familial thoracic aortic aneurysm and aortic dissection;Aneurysm-osteoarthritis syndrome Supplemental_disease_name DISEASE_NAME:familial_thoracic_aortic_aneurysm_and_aortic_dissection_aortic_valve_disease_1 Familial thoracic aortic aneurysm and aortic dissection;Aortic valve disease 1 Supplemental_disease_name DISEASE_NAME:familial_thoracic_aortic_aneurysm_and_aortic_dissection_disproportionate_tall_stature Familial thoracic aortic aneurysm and aortic dissection;Disproportionate tall stature Supplemental_disease_name DISEASE_NAME:familial_thoracic_aortic_aneurysm_and_aortic_dissection_ectopia_lentis_1_isolated_autosomal_dominant_marfan_syndrome_weill_marchesani_syndrome_2_dominant_mass_syndrome Familial thoracic aortic aneurysm and aortic dissection;Ectopia lentis 1, isolated, autosomal dominant;Marfan syndrome;Weill-Marchesani syndrome 2, dominant;MASS syndrome Supplemental_disease_name DISEASE_NAME:familial_thoracic_aortic_aneurysm_and_aortic_dissection_hereditary_cancer_predisposing_syndrome Familial thoracic aortic aneurysm and aortic dissection;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:familial_thoracic_aortic_aneurysm_and_aortic_dissection_loeys_dietz_syndrome Familial thoracic aortic aneurysm and aortic dissection;Loeys-Dietz syndrome Supplemental_disease_name DISEASE_NAME:familial_thoracic_aortic_aneurysm_and_aortic_dissection_marfan_syndrome Familial thoracic aortic aneurysm and aortic dissection;Marfan syndrome Supplemental_disease_name DISEASE_NAME:familial_thyroid_dyshormonogenesis_thyroid_dyshormonogenesis_6 Familial thyroid dyshormonogenesis;Thyroid dyshormonogenesis 6 Supplemental_disease_name DISEASE_NAME:familial_type_3_hyperlipoproteinemia_sea_blue_histiocyte_syndrome Familial type 3 hyperlipoproteinemia;Sea-blue histiocyte syndrome Supplemental_disease_name DISEASE_NAME:familial_type_5_hyperlipoproteinemia_hypertriglyceridemia_1 Familial type 5 hyperlipoproteinemia;Hypertriglyceridemia 1 Supplemental_disease_name DISEASE_NAME:familial_ventricular_tachycardia Familial ventricular tachycardia Supplemental_disease_name DISEASE_NAME:familial_visceral_amyloidosis_ostertag_type Familial visceral amyloidosis, Ostertag type Supplemental_disease_name DISEASE_NAME:familial_visceral_amyloidosis_ostertag_type_congenital_afibrinogenemia Familial visceral amyloidosis, Ostertag type;Congenital afibrinogenemia Supplemental_disease_name DISEASE_NAME:familial_visceral_amyloidosis_ostertag_type_congenital_afibrinogenemia_familial_dysfibrinogenemia Familial visceral amyloidosis, Ostertag type;Congenital afibrinogenemia;Familial dysfibrinogenemia Supplemental_disease_name DISEASE_NAME:familial_visceral_amyloidosis_ostertag_type_familial_dysfibrinogenemia_congenital_afibrinogenemia Familial visceral amyloidosis, Ostertag type;Familial dysfibrinogenemia;Congenital afibrinogenemia Supplemental_disease_name DISEASE_NAME:familial_visceral_amyloidosis_ostertag_type_hypoalphalipoproteinemia_primary_2 Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2 Supplemental_disease_name DISEASE_NAME:familial_visceral_amyloidosis_ostertag_type_hypoalphalipoproteinemia_primary_2_hypoalphalipoproteinemia_primary_2_intermediate Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2;Hypoalphalipoproteinemia, primary, 2, intermediate Supplemental_disease_name DISEASE_NAME:familial_visceral_amyloidosis_ostertag_type_hypoalphalipoproteinemia_primary_2_intermediate_hypoalphalipoproteinemia_primary_2 Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2, intermediate;Hypoalphalipoproteinemia, primary, 2 Supplemental_disease_name DISEASE_NAME:familial_visceral_amyloidosis_ostertag_type_hypoproteinemia_hypercatabolic Familial visceral amyloidosis, Ostertag type;Hypoproteinemia, hypercatabolic Supplemental_disease_name DISEASE_NAME:familial_x_linked_hypophosphatemic_vitamin_d_refractory_rickets Familial X-linked hypophosphatemic vitamin D refractory rickets Supplemental_disease_name DISEASE_NAME:family_history Family history Supplemental_disease_name DISEASE_NAME:family_history_of_cancer_neoplasm_of_uterus Family history of cancer;Neoplasm of uterus Supplemental_disease_name DISEASE_NAME:family_history_of_cardiomyopathy Family history of cardiomyopathy Supplemental_disease_name DISEASE_NAME:family_history_of_sudden_cardiac_death Family history of sudden cardiac death Supplemental_disease_name DISEASE_NAME:fan1_related_disorder FAN1-related disorder Supplemental_disease_name DISEASE_NAME:fanca_related_disorder FANCA-related disorder Supplemental_disease_name DISEASE_NAME:fancb_related_disorder FANCB-related disorder Supplemental_disease_name DISEASE_NAME:fancc_related_disorder FANCC-related disorder Supplemental_disease_name DISEASE_NAME:fancd2_related_disorder FANCD2-related disorder Supplemental_disease_name DISEASE_NAME:fancd2os_related_disorder FANCD2OS-related disorder Supplemental_disease_name DISEASE_NAME:fance_related_disorder FANCE-related disorder Supplemental_disease_name DISEASE_NAME:fancf_related_disorder FANCF-related disorder Supplemental_disease_name DISEASE_NAME:fancg_related_disorder FANCG-related disorder Supplemental_disease_name DISEASE_NAME:fanci_related_disorder FANCI-related disorder Supplemental_disease_name DISEASE_NAME:fancl_related_disorder FANCL-related disorder Supplemental_disease_name DISEASE_NAME:fancm_fanconi_like_genomic_instability_disorder FANCM Fanconi-like genomic instability disorder Supplemental_disease_name DISEASE_NAME:fancm_related_disorder FANCM-related disorder Supplemental_disease_name DISEASE_NAME:fanconi_anaemia_or_bloom_syndrome Fanconi anaemia or Bloom syndrome Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_10 Fanconi anemia, complementation group 10 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_b_vacterl_association_x_linked_with_or_without_hydrocephalus Fanconi anemia complementation group B;VACTERL association, X-linked, with or without hydrocephalus Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_d1_breast_ovarian_cancer_familial_susceptibility_to_2 Fanconi anemia complementation group D1;Breast-ovarian cancer, familial, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_d1_hereditary_breast_ovarian_cancer_syndrome Fanconi anemia complementation group D1;Hereditary breast ovarian cancer syndrome Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_j_brip1_related_disorder Fanconi anemia complementation group J;BRIP1-related disorder Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_j_esophageal_atresia_tracheoesophageal_fistula_familial_cancer_of_breast Fanconi anemia complementation group J;Esophageal atresia/tracheoesophageal fistula;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_j_familial_cancer_of_breast Fanconi anemia complementation group J;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_j_familial_ovarian_cancer Fanconi anemia complementation group J;Familial ovarian cancer Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_j_ovarian_cancer Fanconi anemia complementation group J;Ovarian cancer Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_m Fanconi anemia, complementation group M Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_n_breast_ovarian_cancer_familial_susceptibility_to_5_pancreatic_cancer_susceptibility_to_3 Fanconi anemia complementation group N;Breast-ovarian cancer, familial, susceptibility to, 5;Pancreatic cancer, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_n_familial_cancer_of_breast_pancreatic_cancer_susceptibility_to_3 Fanconi anemia complementation group N;Familial cancer of breast;Pancreatic cancer, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_n_hereditary_cancer_predisposing_syndrome Fanconi anemia complementation group N;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_n_malignant_tumor_of_breast Fanconi anemia complementation group N;Malignant tumor of breast Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_n_pancreatic_cancer_susceptibility_to_3_breast_ovarian_cancer_familial_susceptibility_to_5 Fanconi anemia complementation group N;Pancreatic cancer, susceptibility to, 3;Breast-ovarian cancer, familial, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_n_pancreatic_cancer_susceptibility_to_3_breast_ovarian_cancer_familial_susceptibility_to_5_hereditary_cancer_predisposing_syndrome Fanconi anemia complementation group N;Pancreatic cancer, susceptibility to, 3;Breast-ovarian cancer, familial, susceptibility to, 5;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_n_pancreatic_cancer_susceptibility_to_3_esophageal_atresia_tracheoesophageal_fistula_familial_cancer_of_breast Fanconi anemia complementation group N;Pancreatic cancer, susceptibility to, 3;Esophageal atresia/tracheoesophageal fistula;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_n_pancreatic_cancer_susceptibility_to_3_familial_cancer_of_breast Fanconi anemia complementation group N;Pancreatic cancer, susceptibility to, 3;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_n_pancreatic_cancer_susceptibility_to_3_hereditary_cancer_predisposing_syndrome Fanconi anemia complementation group N;Pancreatic cancer, susceptibility to, 3;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_o_breast_ovarian_cancer_familial_susceptibility_to_3 Fanconi anemia complementation group O;Breast-ovarian cancer, familial, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_q_cockayne_syndrome_xeroderma_pigmentosum_group_f Fanconi anemia complementation group Q;Cockayne syndrome;Xeroderma pigmentosum, group F Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_q_xeroderma_pigmentosum_group_f_cockayne_syndrome Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F;Cockayne syndrome Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_q_xeroderma_pigmentosum_group_f_xfe_progeroid_syndrome Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F;XFE progeroid syndrome Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_q_xfe_progeroid_syndrome_xeroderma_pigmentosum_group_f Fanconi anemia complementation group Q;XFE progeroid syndrome;Xeroderma pigmentosum, group F Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_s_breast_ovarian_cancer_familial_susceptibility_to_1_familial_cancer_of_breast Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_s_breast_ovarian_cancer_familial_susceptibility_to_1_pancreatic_cancer_susceptibility_to_4 Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_s_familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_1 Fanconi anemia, complementation group S;Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_s_pancreatic_cancer_susceptibility_to_4_breast_ovarian_cancer_familial_susceptibility_to_1 Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_s_pancreatic_cancer_susceptibility_to_4_breast_ovarian_cancer_familial_susceptibility_to_1_familial_cancer_of_breast Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_s_pancreatic_cancer_susceptibility_to_4_familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_1 Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_complementation_group_u_spermatogenic_failure_50_premature_ovarian_failure_17 Fanconi anemia complementation group U;Spermatogenic failure 50;Premature ovarian failure 17 Supplemental_disease_name DISEASE_NAME:fanconi_anemia_hereditary_cancer Fanconi anemia;Hereditary cancer Supplemental_disease_name DISEASE_NAME:fanconi_bickel_syndrome_type_2_diabetes_mellitus Fanconi-Bickel syndrome;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome Fanconi renotubular syndrome Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome_1_arginine_glycine_amidinotransferase_deficiency Fanconi renotubular syndrome 1;Arginine:glycine amidinotransferase deficiency Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome_2_hypercalcemia_infantile_2 Fanconi renotubular syndrome 2;Hypercalcemia, infantile, 2 Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome_2_hypercalcemia_infantile_2_hypophosphatemic_nephrolithiasis_osteoporosis_1 Fanconi renotubular syndrome 2;Hypercalcemia, infantile, 2;Hypophosphatemic nephrolithiasis/osteoporosis 1 Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome_2_hypophosphatemic_nephrolithiasis_osteoporosis_1_hypercalcemia_infantile_2 Fanconi renotubular syndrome 2;Hypophosphatemic nephrolithiasis/osteoporosis 1;Hypercalcemia, infantile, 2 Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young_maturity_onset_diabetes_of_the_young_type_1_type_2_diabetes_mellitus Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Maturity-onset diabetes of the young type 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young_type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_1 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 1 Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome_5_mitochondrial_complex_i_deficiency_nuclear_type_17 Fanconi renotubular syndrome 5;Mitochondrial complex I deficiency, nuclear type 17 Supplemental_disease_name DISEASE_NAME:far1_related_disorder FAR1-related disorder Supplemental_disease_name DISEASE_NAME:far1_related_neurodevelopmental_disorder FAR1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:farber_lipogranulomatosis_spinal_muscular_atrophy_progressive_myoclonic_epilepsy_syndrome Farber lipogranulomatosis;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Supplemental_disease_name DISEASE_NAME:fars2_related_disorder FARS2-related disorder Supplemental_disease_name DISEASE_NAME:farsa_related_disorder FARSA-related disorder Supplemental_disease_name DISEASE_NAME:farsb_related_disorder FARSB-related disorder Supplemental_disease_name DISEASE_NAME:fas_related_autoimmune_lymphoproliferative_syndrome FAS-related autoimmune lymphoproliferative syndrome Supplemental_disease_name DISEASE_NAME:fas_related_disorder FAS-related disorder Supplemental_disease_name DISEASE_NAME:faslg_related_autoimmune_lymphoproliferative_syndrome FASLG-Related Autoimmune Lymphoproliferative Syndrome Supplemental_disease_name DISEASE_NAME:faslg_related_disorder FASLG-related disorder Supplemental_disease_name DISEASE_NAME:fasn_associated_disorder FASN-associated disorder Supplemental_disease_name DISEASE_NAME:fasn_related_disorder FASN-related disorder Supplemental_disease_name DISEASE_NAME:fasting_plasma_glucose_level_quantitative_trait_locus_1 Fasting plasma glucose level quantitative trait locus 1 Supplemental_disease_name DISEASE_NAME:fasting_plasma_glucose_level_quantitative_trait_locus_5 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 Supplemental_disease_name DISEASE_NAME:fasting_plasma_glucose_level_quantitative_trait_locus_6 Fasting plasma glucose level quantitative trait locus 6 Supplemental_disease_name DISEASE_NAME:fastkd2_related_disorder FASTKD2-related disorder Supplemental_disease_name DISEASE_NAME:fat1_related_disorder FAT1-related disorder Supplemental_disease_name DISEASE_NAME:fat2_related_disorder FAT2-related disorder Supplemental_disease_name DISEASE_NAME:fat3_related_disorder FAT3-related disorder Supplemental_disease_name DISEASE_NAME:fat4_related_disorder FAT4-related disorder Supplemental_disease_name DISEASE_NAME:fatal_infantile_hypertonic_myofibrillar_myopathy_cataract_16_multiple_types Fatal infantile hypertonic myofibrillar myopathy;Cataract 16 multiple types Supplemental_disease_name DISEASE_NAME:fatal_infantile_hypertonic_myofibrillar_myopathy_cataract_16_multiple_types_dilated_cardiomyopathy_1ii_myofibrillar_myopathy_2 Fatal infantile hypertonic myofibrillar myopathy;Cataract 16 multiple types;Dilated cardiomyopathy 1II;Myofibrillar myopathy 2 Supplemental_disease_name DISEASE_NAME:fatal_infantile_mitochondrial_cardiomyopathy Fatal infantile mitochondrial cardiomyopathy Supplemental_disease_name DISEASE_NAME:fatal_multiple_mitochondrial_dysfunctions_syndrome Fatal multiple mitochondrial dysfunctions syndrome Supplemental_disease_name DISEASE_NAME:fatty_acyl_coa_reductase_1_deficiency Fatty acyl-CoA reductase 1 deficiency Supplemental_disease_name DISEASE_NAME:fatty_liver Fatty liver Supplemental_disease_name DISEASE_NAME:fatty_liver_disease_protection_against FATTY LIVER DISEASE, PROTECTION AGAINST Supplemental_disease_name DISEASE_NAME:faundes_banka_syndrome Faundes-Banka syndrome Supplemental_disease_name DISEASE_NAME:fbln1_related_disorder FBLN1-related disorder Supplemental_disease_name DISEASE_NAME:fbln5_related_disorder FBLN5-related disorder Supplemental_disease_name DISEASE_NAME:fbn1_related_disorder FBN1-related disorder Supplemental_disease_name DISEASE_NAME:fbn2_related_disorder FBN2-related disorder Supplemental_disease_name DISEASE_NAME:fbn2_related_disorders FBN2-related disorders Supplemental_disease_name DISEASE_NAME:fbn3_related_disorder FBN3-related disorder Supplemental_disease_name DISEASE_NAME:fbp1_related_disorder FBP1-related disorder Supplemental_disease_name DISEASE_NAME:fbrsl1_associated_neurodevelopmental_syndrome FBRSL1-associated neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:fbrsl1_related_disorder FBRSL1-related disorder Supplemental_disease_name DISEASE_NAME:fbxl20_related_disorder FBXL20-related disorder Supplemental_disease_name DISEASE_NAME:fbxl3_related_disorder FBXL3-related disorder Supplemental_disease_name DISEASE_NAME:fbxl4_related_disorder FBXL4-related disorder Supplemental_disease_name DISEASE_NAME:fbxl8_related_disorder FBXL8-related disorder Supplemental_disease_name DISEASE_NAME:fbxo11_related_disorder FBXO11-related disorder Supplemental_disease_name DISEASE_NAME:fbxo28_associated_epileptic_encephalopathy FBXO28-associated epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:fbxo28_related_developmental_and_epileptic_encephalopathy FBXO28-related developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:fbxo28_related_disorder FBXO28-related disorder Supplemental_disease_name DISEASE_NAME:fbxo2_related_disorder FBXO2-related disorder Supplemental_disease_name DISEASE_NAME:fbxo31_related_disorder FBXO31-related disorder Supplemental_disease_name DISEASE_NAME:fbxo38_related_disorder FBXO38-related disorder Supplemental_disease_name DISEASE_NAME:fbxo47_related_disorder FBXO47-related disorder Supplemental_disease_name DISEASE_NAME:fbxo7_related_disorder FBXO7-related disorder Supplemental_disease_name DISEASE_NAME:fbxw11_related_disorder FBXW11-related disorder Supplemental_disease_name DISEASE_NAME:fbxw11_related_neurodevelopmental_brain_eye_and_digit_anomalies FBXW11-related neurodevelopmental, brain, eye, and digit anomalies Supplemental_disease_name DISEASE_NAME:fbxw4_related_disorder FBXW4-related disorder Supplemental_disease_name DISEASE_NAME:fbxw7_related_disorder FBXW7-related disorder Supplemental_disease_name DISEASE_NAME:fbxw7_related_neurodevelopmental_disorder FBXW7-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:fcgr1a_related_disorder FCGR1A-related disorder Supplemental_disease_name DISEASE_NAME:fcgr2a_related_disorder FCGR2A-related disorder Supplemental_disease_name DISEASE_NAME:fcho1_related_disorder FCHO1-related disorder Supplemental_disease_name DISEASE_NAME:fcn1_related_disorder FCN1-related disorder Supplemental_disease_name DISEASE_NAME:fcn2_related_disorder FCN2-related disorder Supplemental_disease_name DISEASE_NAME:fcn3_related_disorder FCN3-related disorder Supplemental_disease_name DISEASE_NAME:fcsk_related_disorder FCSK-related disorder Supplemental_disease_name DISEASE_NAME:fdft1_related_disorder FDFT1-related disorder Supplemental_disease_name DISEASE_NAME:fdps_related_disorder FDPS-related disorder Supplemental_disease_name DISEASE_NAME:fdx2_related_disorder FDX2-related disorder Supplemental_disease_name DISEASE_NAME:fdxr_related_disorder FDXR-related disorder Supplemental_disease_name DISEASE_NAME:fdxr_related_mitochondrial_disorder FDXR-related mitochondrial disorder Supplemental_disease_name DISEASE_NAME:febrile_seizure_within_the_age_range_of_3_months_to_6_years Febrile seizure (within the age range of 3 months to 6 years) Supplemental_disease_name DISEASE_NAME:febrile_seizure_within_the_age_range_of_3_months_to_6_years_color_vision_defect_seizure Febrile seizure (within the age range of 3 months to 6 years);Color vision defect;Seizure Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial Febrile seizures, familial Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_1 Febrile seizures, familial, 1 Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_11 Febrile seizures, familial, 11 Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_11_familial_temporal_lobe_epilepsy_5 Febrile seizures, familial, 11;Familial temporal lobe epilepsy 5 Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_1_generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3_severe_myoclonic_epilepsy_in_infancy Febrile seizures, familial, 1;Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_2 Febrile seizures, familial, 2 Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_3a Febrile seizures, familial, 3a Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_3a_severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2 Febrile seizures, familial, 3a;Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_3b Febrile seizures, familial, 3b Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_4 Febrile seizures, familial, 4 Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_4_usher_syndrome_type_2c Febrile seizures, familial, 4;Usher syndrome type 2C Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_8 Febrile seizures, familial, 8 Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_8_developmental_and_epileptic_encephalopathy_74 Febrile seizures, familial, 8;Developmental and epileptic encephalopathy, 74 Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_8_epilepsy_childhood_absence_susceptibility_to_2 Febrile seizures, familial, 8;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 Supplemental_disease_name DISEASE_NAME:febrile_seizures_familial_8_generalized_epilepsy_with_febrile_seizures_plus_3_developmental_and_epileptic_encephalopathy_74 Febrile seizures, familial, 8;Generalized epilepsy with febrile seizures plus 3;Developmental and epileptic encephalopathy, 74 Supplemental_disease_name DISEASE_NAME:fech_related_disorder FECH-related disorder Supplemental_disease_name DISEASE_NAME:feeding_difficulties Feeding difficulties Supplemental_disease_name DISEASE_NAME:feeding_difficulties_failure_to_thrive_in_infancy_severe_intrauterine_growth_retardation_postnatal_growth_retardation Feeding difficulties;Failure to thrive in infancy;Severe intrauterine growth retardation;Postnatal growth retardation Supplemental_disease_name DISEASE_NAME:feeding_difficulties_in_infancy_hypotonia_motor_delay Feeding difficulties in infancy;Hypotonia;Motor delay Supplemental_disease_name DISEASE_NAME:feeding_difficulties_intellectual_disability_severe_muscular_hypotonia_fatigable_weakness_of_swallowing_muscles Feeding difficulties;Intellectual disability;Severe muscular hypotonia;Fatigable weakness of swallowing muscles Supplemental_disease_name DISEASE_NAME:feingold_syndrome_type_1 Feingold syndrome type 1 Supplemental_disease_name DISEASE_NAME:feingold_syndrome_type_1_megalencephaly_polydactyly_syndrome Feingold syndrome type 1;Megalencephaly-polydactyly syndrome Supplemental_disease_name DISEASE_NAME:feingold_syndrome_type_2 Feingold syndrome type 2 Supplemental_disease_name DISEASE_NAME:fem1c_related_condition FEM1C-related condition Supplemental_disease_name DISEASE_NAME:fem1c_related_intellectual_disability FEM1C-related intellectual disability Supplemental_disease_name DISEASE_NAME:female_external_genitalia_in_individual_with_46_xy_karyotype_absent_axillary_hair_absent_pubic_hair_aplasia_of_the_uterus Female external genitalia in individual with 46,XY karyotype;Absent axillary hair;Absent pubic hair;Aplasia of the uterus Supplemental_disease_name DISEASE_NAME:female_infertility Female infertility Supplemental_disease_name DISEASE_NAME:female_infertility_abnormal_meiosis Female infertility;Abnormal meiosis Supplemental_disease_name DISEASE_NAME:female_infertility_due_to_zona_pellucida_defect Female infertility due to zona pellucida defect Supplemental_disease_name DISEASE_NAME:fentanyl_response_dosage fentanyl response - Dosage Supplemental_disease_name DISEASE_NAME:fermt1_related_disorder FERMT1-related disorder Supplemental_disease_name DISEASE_NAME:fermt3_related_disorder FERMT3-related disorder Supplemental_disease_name DISEASE_NAME:ferrodoxin_reductase_fdxr_deficiency Ferrodoxin Reductase (FDXR) Deficiency Supplemental_disease_name DISEASE_NAME:fetal_akinesia Fetal akinesia Supplemental_disease_name DISEASE_NAME:fetal_akinesia_cerebral_and_retinal_hemorrhage_syndrome Fetal akinesia-cerebral and retinal hemorrhage syndrome Supplemental_disease_name DISEASE_NAME:fetal_akinesia_cerebral_and_retinal_hemorrhage_syndrome_autosomal_dominant_centronuclear_myopathy_charcot_marie_tooth_disease_dominant_intermediate_b Fetal akinesia-cerebral and retinal hemorrhage syndrome;Autosomal dominant centronuclear myopathy;Charcot-Marie-Tooth disease dominant intermediate B Supplemental_disease_name DISEASE_NAME:fetal_akinesia_cerebral_and_retinal_hemorrhage_syndrome_charcot_marie_tooth_disease_dominant_intermediate_b_autosomal_dominant_centronuclear_myopathy Fetal akinesia-cerebral and retinal hemorrhage syndrome;Charcot-Marie-Tooth disease dominant intermediate B;Autosomal dominant centronuclear myopathy Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence Fetal akinesia deformation sequence Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_1 Fetal akinesia deformation sequence 1 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_1_arthrogryposis_multiplex_congenita Fetal akinesia deformation sequence 1;Arthrogryposis multiplex congenita Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_1_congenital_myasthenic_syndrome_10 Fetal akinesia deformation sequence 1;Congenital myasthenic syndrome 10 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_1_congenital_myasthenic_syndrome_11 Fetal akinesia deformation sequence 1;Congenital myasthenic syndrome 11 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_1_congenital_myasthenic_syndrome_9 Fetal akinesia deformation sequence 1;Congenital myasthenic syndrome 9 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_2 Fetal akinesia deformation sequence 2 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_2_congenital_myasthenic_syndrome_11 Fetal akinesia deformation sequence 2;Congenital myasthenic syndrome 11 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_3 Fetal akinesia deformation sequence 3 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_3_congenital_myasthenic_syndrome_10 Fetal akinesia deformation sequence 3;Congenital myasthenic syndrome 10 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_4 Fetal akinesia deformation sequence 4 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_respiratory_insufficiency_microcephaly_polymicrogyria_and_dysmorphic_facies Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies Supplemental_disease_name DISEASE_NAME:fetal_anomalies_with_a_likely_genetic_cause Fetal anomalies with a likely genetic cause Supplemental_disease_name DISEASE_NAME:fetal_anomaly Fetal anomaly Supplemental_disease_name DISEASE_NAME:fetal_cardiomyopathy Fetal Cardiomyopathy Supplemental_disease_name DISEASE_NAME:fetal_cystic_hygroma Fetal cystic hygroma Supplemental_disease_name DISEASE_NAME:fetal_demise FETAL DEMISE Supplemental_disease_name DISEASE_NAME:fetal_growth_restriction Fetal growth restriction Supplemental_disease_name DISEASE_NAME:fetal_growth_restriction_abnormal_facial_shape_failure_to_thrive_microcephaly Fetal growth restriction;Abnormal facial shape;Failure to thrive;Microcephaly Supplemental_disease_name DISEASE_NAME:fetal_growth_restriction_cleft_lip Fetal growth restriction;Cleft lip Supplemental_disease_name DISEASE_NAME:fetal_growth_restriction_narrow_chest_bowing_of_the_long_bones Fetal growth restriction;Narrow chest;Bowing of the long bones Supplemental_disease_name DISEASE_NAME:fetal_growth_restriction_narrow_nasal_bridge_mandibular_prognathia_delayed_speech_and_language_development_seizure Fetal growth restriction;Narrow nasal bridge;Mandibular prognathia;Delayed speech and language development;Seizure Supplemental_disease_name DISEASE_NAME:fetal_growth_restriction_renal_hypoplasia_generalized_hypotonia Fetal growth restriction;Renal hypoplasia;Generalized hypotonia Supplemental_disease_name DISEASE_NAME:fetal_growth_restriction_seizure_growth_delay Fetal growth restriction;Seizure;Growth delay Supplemental_disease_name DISEASE_NAME:fetal_hemoglobin_a_gamma_type_reduction_in Fetal hemoglobin, a-gamma type, reduction in Supplemental_disease_name DISEASE_NAME:fetal_hemoglobin_quantitative_trait_locus_1 Fetal hemoglobin quantitative trait locus 1 Supplemental_disease_name DISEASE_NAME:fetal_hemoglobin_quantitative_trait_locus_5 Fetal hemoglobin quantitative trait locus 5 Supplemental_disease_name DISEASE_NAME:fetal_hemoglobin_quantitative_trait_locus_6 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 Supplemental_disease_name DISEASE_NAME:fetal_megacystis_atresia_of_urethra_ventricular_septal_defect Fetal megacystis;Atresia of urethra;Ventricular septal defect Supplemental_disease_name DISEASE_NAME:fetomaternal_alloimmune_thrombocytopenia_1 Fetomaternal alloimmune thrombocytopenia 1 Supplemental_disease_name DISEASE_NAME:fetomaternal_alloimmune_thrombocytopenia_2 Fetomaternal alloimmune thrombocytopenia 2 Supplemental_disease_name DISEASE_NAME:fetomaternal_alloimmune_thrombocytopenia_2_platelet_type_bleeding_disorder_16 Fetomaternal alloimmune thrombocytopenia 2;Platelet-type bleeding disorder 16 Supplemental_disease_name DISEASE_NAME:fetomaternal_alloimmune_thrombocytopenia_3 Fetomaternal alloimmune thrombocytopenia 3 Supplemental_disease_name DISEASE_NAME:fever_abdominal_pain_visual_loss_vomiting_emotional_lability Fever;Abdominal pain;Visual loss;Vomiting;Emotional lability Supplemental_disease_name DISEASE_NAME:fezf1_related_disorder FEZF1-related disorder Supplemental_disease_name DISEASE_NAME:fezf2_related_disorder FEZF2-related disorder Supplemental_disease_name DISEASE_NAME:fezf2_related_neurodevelopmental_condition FEZF2-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:fg_syndrome_1 FG syndrome 1 Supplemental_disease_name DISEASE_NAME:fg_syndrome_1_blepharophimosis_intellectual_disability_syndrome_mkb_type_x_linked_intellectual_disability_with_marfanoid_habitus FG syndrome 1;Blepharophimosis - intellectual disability syndrome, MKB type;X-linked intellectual disability with marfanoid habitus Supplemental_disease_name DISEASE_NAME:fg_syndrome_1_cholestasis_pigmentary_retinopathy_cleft_palate_syndrome_x_linked_intellectual_disability_with_marfanoid_habitus_blepharophimosis_intellectual_disability_syndrome_mkb_type FG syndrome 1;Cholestasis-pigmentary retinopathy-cleft palate syndrome;X-linked intellectual disability with marfanoid habitus;Blepharophimosis - intellectual disability syndrome, MKB type Supplemental_disease_name DISEASE_NAME:fg_syndrome_1_x_linked_intellectual_disability_with_marfanoid_habitus FG syndrome 1;X-linked intellectual disability with marfanoid habitus Supplemental_disease_name DISEASE_NAME:fg_syndrome_1_x_linked_intellectual_disability_with_marfanoid_habitus_blepharophimosis_intellectual_disability_syndrome_mkb_type FG syndrome 1;X-linked intellectual disability with marfanoid habitus;Blepharophimosis - intellectual disability syndrome, MKB type Supplemental_disease_name DISEASE_NAME:fg_syndrome_1_x_linked_intellectual_disability_with_marfanoid_habitus_cholestasis_pigmentary_retinopathy_cleft_palate_syndrome_blepharophimosis_intellectual_disability_syndrome_mkb_type FG syndrome 1;X-linked intellectual disability with marfanoid habitus;Cholestasis-pigmentary retinopathy-cleft palate syndrome;Blepharophimosis - intellectual disability syndrome, MKB type Supplemental_disease_name DISEASE_NAME:fg_syndrome_2 FG syndrome 2 Supplemental_disease_name DISEASE_NAME:fg_syndrome_4 FG syndrome 4 Supplemental_disease_name DISEASE_NAME:fg_syndrome_4_syndromic_x_linked_intellectual_disability_najm_type FG syndrome 4;Syndromic X-linked intellectual disability Najm type Supplemental_disease_name DISEASE_NAME:fga_related_disorder FGA-related disorder Supplemental_disease_name DISEASE_NAME:fgb_related_disorder FGB-related disorder Supplemental_disease_name DISEASE_NAME:fgd1_related_disorder FGD1-related disorder Supplemental_disease_name DISEASE_NAME:fgd4_related_disorder FGD4-related disorder Supplemental_disease_name DISEASE_NAME:fgf10_related_disorder FGF10-related disorder Supplemental_disease_name DISEASE_NAME:fgf12_related_disorder FGF12-related disorder Supplemental_disease_name DISEASE_NAME:fgf13_related_disorder FGF13-related disorder Supplemental_disease_name DISEASE_NAME:fgf14_related_disorder FGF14-related disorder Supplemental_disease_name DISEASE_NAME:fgf16_related_disorder FGF16-related disorder Supplemental_disease_name DISEASE_NAME:fgf17_related_disorder FGF17-related disorder Supplemental_disease_name DISEASE_NAME:fgf20_related_disorder FGF20-related disorder Supplemental_disease_name DISEASE_NAME:fgf23_related_disorder FGF23-related disorder Supplemental_disease_name DISEASE_NAME:fgf3_related_disorder FGF3-related disorder Supplemental_disease_name DISEASE_NAME:fgf5_related_disorder FGF5-related disorder Supplemental_disease_name DISEASE_NAME:fgf8_related_disorder FGF8-related disorder Supplemental_disease_name DISEASE_NAME:fgf9_related_disorder FGF9-related disorder Supplemental_disease_name DISEASE_NAME:fgfr1_related_craniosynostosis_syndrome FGFR1-related craniosynostosis syndrome Supplemental_disease_name DISEASE_NAME:fgfr1_related_disorder FGFR1-related disorder Supplemental_disease_name DISEASE_NAME:fgfr2_realated_disorder FGFR2-realated disorder Supplemental_disease_name DISEASE_NAME:fgfr2_related_craniosynostosis FGFR2 related craniosynostosis Supplemental_disease_name DISEASE_NAME:fgfr2_related_disorder FGFR2-related disorder Supplemental_disease_name DISEASE_NAME:fgfr2_related_syndromic_and_non_syndromic_craniosynostoses FGFR2-related syndromic and non-syndromic craniosynostoses Supplemental_disease_name DISEASE_NAME:fgfr3_related_catshl_syndrome FGFR3-related CATSHL syndrome Supplemental_disease_name DISEASE_NAME:fgfr3_related_chondrodysplasia FGFR3-related chondrodysplasia Supplemental_disease_name DISEASE_NAME:fgfr3_related_disorder FGFR3-related disorder Supplemental_disease_name DISEASE_NAME:fgfr4_related_disorder FGFR4-related disorder Supplemental_disease_name DISEASE_NAME:fgfrl1_related_disorder FGFRL1-related disorder Supplemental_disease_name DISEASE_NAME:fgg_related_disorder FGG-related disorder Supplemental_disease_name DISEASE_NAME:fh_leiden_1 FH LEIDEN 1 Supplemental_disease_name DISEASE_NAME:fh_related_disorder FH-related disorder Supplemental_disease_name DISEASE_NAME:fhit_related_disorder FHIT-related disorder Supplemental_disease_name DISEASE_NAME:fhl1_related_disorder FHL1-related disorder Supplemental_disease_name DISEASE_NAME:fhl2_related_cardiomyopathy FHL2-related cardiomyopathy Supplemental_disease_name DISEASE_NAME:fhl2_related_disorder FHL2-related disorder Supplemental_disease_name DISEASE_NAME:fhod3_related_disorder FHOD3-related disorder Supplemental_disease_name DISEASE_NAME:fibp_related_disorder FIBP-related disorder Supplemental_disease_name DISEASE_NAME:fibrinogen_aarhus_1 FIBRINOGEN AARHUS 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_asahi FIBRINOGEN ASAHI Supplemental_disease_name DISEASE_NAME:fibrinogen_baltimore_1 FIBRINOGEN BALTIMORE 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_baltimore_2 FIBRINOGEN BALTIMORE 2 Supplemental_disease_name DISEASE_NAME:fibrinogen_baltimore_3 FIBRINOGEN BALTIMORE 3 Supplemental_disease_name DISEASE_NAME:fibrinogen_beta_148_polymorphism FIBRINOGEN, BETA-148 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:fibrinogen_beta_polymorphism FIBRINOGEN-BETA POLYMORPHISM Supplemental_disease_name DISEASE_NAME:fibrinogen_canterbury FIBRINOGEN CANTERBURY Supplemental_disease_name DISEASE_NAME:fibrinogen_caracas_2 FIBRINOGEN CARACAS 2 Supplemental_disease_name DISEASE_NAME:fibrinogen_christchurch_2 FIBRINOGEN CHRISTCHURCH 2 Supplemental_disease_name DISEASE_NAME:fibrinogen_detroit_1 FIBRINOGEN DETROIT 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_dusart FIBRINOGEN DUSART Supplemental_disease_name DISEASE_NAME:fibrinogen_giessen_4 FIBRINOGEN GIESSEN 4 Supplemental_disease_name DISEASE_NAME:fibrinogen_haifa_1 FIBRINOGEN HAIFA 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_hillsborough FIBRINOGEN HILLSBOROUGH Supplemental_disease_name DISEASE_NAME:fibrinogen_ise FIBRINOGEN ISE Supplemental_disease_name DISEASE_NAME:fibrinogen_keokuk FIBRINOGEN KEOKUK Supplemental_disease_name DISEASE_NAME:fibrinogen_kyoto_1 FIBRINOGEN KYOTO 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_kyoto_2 FIBRINOGEN KYOTO 2 Supplemental_disease_name DISEASE_NAME:fibrinogen_kyoto_3 FIBRINOGEN KYOTO 3 Supplemental_disease_name DISEASE_NAME:fibrinogen_lille_1 FIBRINOGEN LILLE 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_lima FIBRINOGEN LIMA Supplemental_disease_name DISEASE_NAME:fibrinogen_longmont FIBRINOGEN LONGMONT Supplemental_disease_name DISEASE_NAME:fibrinogen_marburg FIBRINOGEN MARBURG Supplemental_disease_name DISEASE_NAME:fibrinogen_matsumoto_1 FIBRINOGEN MATSUMOTO 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_milano_1 FIBRINOGEN MILANO 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_milano_xii_digenic Fibrinogen Milano XII, digenic Supplemental_disease_name DISEASE_NAME:fibrinogen_munich_1 FIBRINOGEN MUNICH 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_nagoya_1 FIBRINOGEN NAGOYA 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_naples FIBRINOGEN NAPLES Supplemental_disease_name DISEASE_NAME:fibrinogen_new_york_1 FIBRINOGEN NEW YORK 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_nieuwegein FIBRINOGEN NIEUWEGEIN Supplemental_disease_name DISEASE_NAME:fibrinogen_nijmegen FIBRINOGEN NIJMEGEN Supplemental_disease_name DISEASE_NAME:fibrinogen_osaka_5 FIBRINOGEN OSAKA 5 Supplemental_disease_name DISEASE_NAME:fibrinogen_oslo_iii FIBRINOGEN OSLO III Supplemental_disease_name DISEASE_NAME:fibrinogen_paris_1 FIBRINOGEN PARIS 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_pontoise_2 FIBRINOGEN PONTOISE 2 Supplemental_disease_name DISEASE_NAME:fibrinogen_rouen_1 FIBRINOGEN ROUEN 1 Supplemental_disease_name DISEASE_NAME:fibrinogen_tokyo_2 FIBRINOGEN TOKYO 2 Supplemental_disease_name DISEASE_NAME:fibrinogen_vlissingen_1 FIBRINOGEN VLISSINGEN 1 Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_1_hearing_loss_autosomal_dominant_37_marshall_syndrome_intervertebral_disc_disorder_stickler_syndrome_type_2 Fibrochondrogenesis 1;Hearing loss, autosomal dominant 37;Marshall syndrome;Intervertebral disc disorder;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_1_marshall_syndrome_stickler_syndrome_type_2 Fibrochondrogenesis 1;Marshall syndrome;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_1_stickler_syndrome_type_2_intervertebral_disc_disorder_hearing_loss_autosomal_dominant_37_marshall_syndrome Fibrochondrogenesis 1;Stickler syndrome type 2;Intervertebral disc disorder;Hearing loss, autosomal dominant 37;Marshall syndrome Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_recessive_nonsyndromic_hearing_loss_53_autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_recessive Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal recessive nonsyndromic hearing loss 53;Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal recessive Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_recessive_nonsyndromic_hearing_loss_53 Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_recessive_nonsyndromic_hearing_loss_53_autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_dominant Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal recessive nonsyndromic hearing loss 53;Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_dominant_nonsyndromic_hearing_loss_13_autosomal_recessive_nonsyndromic_hearing_loss_53 Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal dominant nonsyndromic hearing loss 13;Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_recessive_nonsyndromic_hearing_loss_53_autosomal_dominant_nonsyndromic_hearing_loss_13 Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal recessive nonsyndromic hearing loss 53;Autosomal dominant nonsyndromic hearing loss 13 Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_autosomal_recessive_stickler_syndrome_marshall_syndrome_stickler_syndrome_type_2 Fibrochondrogenesis;Autosomal recessive Stickler syndrome;Marshall syndrome;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:fibrochondrogenesis_marshall_syndrome_stickler_syndrome_stickler_syndrome_type_2_hearing_loss_autosomal_dominant_37 Fibrochondrogenesis;Marshall syndrome;Stickler syndrome;Stickler syndrome type 2;Hearing loss, autosomal dominant 37 Supplemental_disease_name DISEASE_NAME:fibromatosis_gingival_1 Fibromatosis, gingival, 1 Supplemental_disease_name DISEASE_NAME:fibromatosis_gingival_1_noonan_syndrome_4 Fibromatosis, gingival, 1;Noonan syndrome 4 Supplemental_disease_name DISEASE_NAME:fibromatosis_gingival_5 Fibromatosis, gingival, 5 Supplemental_disease_name DISEASE_NAME:fibromatosis_gingival_5_autosomal_dominant_nonsyndromic_hearing_loss_27_wilms_tumor_6 Fibromatosis, gingival, 5;Autosomal dominant nonsyndromic hearing loss 27;Wilms tumor 6 Supplemental_disease_name DISEASE_NAME:fibromatosis_gingival_5_wilms_tumor_6_autosomal_dominant_nonsyndromic_hearing_loss_27 Fibromatosis, gingival, 5;Wilms tumor 6;Autosomal dominant nonsyndromic hearing loss 27 Supplemental_disease_name DISEASE_NAME:fibromatosis_gingival_6 Fibromatosis, gingival, 6 Supplemental_disease_name DISEASE_NAME:fibromuscular_dysplasia Fibromuscular dysplasia Supplemental_disease_name DISEASE_NAME:fibromuscular_dysplasia_multifocal Fibromuscular dysplasia, multifocal Supplemental_disease_name DISEASE_NAME:fibromuscular_dysplasia_multifocal_ehlers_danlos_syndrome_classic_type_1 Fibromuscular dysplasia, multifocal;Ehlers-Danlos syndrome, classic type, 1 Supplemental_disease_name DISEASE_NAME:fibrosis_neurodegeneration_and_cerebral_angiomatosis Fibrosis, neurodegeneration, and cerebral angiomatosis Supplemental_disease_name DISEASE_NAME:fibrosis_of_extraocular_muscles Fibrosis of extraocular muscles Supplemental_disease_name DISEASE_NAME:fibrosis_of_extraocular_muscles_congenital_2 Fibrosis of extraocular muscles, congenital, 2 Supplemental_disease_name DISEASE_NAME:fibrosis_of_extraocular_muscles_congenital_3a_with_or_without_extraocular_involvement Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement Supplemental_disease_name DISEASE_NAME:fibrosis_of_extraocular_muscles_congenital_3a_with_or_without_extraocular_involvement_complex_cortical_dysplasia_with_other_brain_malformations_1 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement;Complex cortical dysplasia with other brain malformations 1 Supplemental_disease_name DISEASE_NAME:fibrosis_of_extraocular_muscles_congenital_3b Fibrosis of extraocular muscles, congenital, 3b Supplemental_disease_name DISEASE_NAME:fibrosis_of_extraocular_muscles_congenital_5 Fibrosis of extraocular muscles, congenital, 5 Supplemental_disease_name DISEASE_NAME:fibrotic_kidney_disease Fibrotic kidney disease Supplemental_disease_name DISEASE_NAME:fibrous_dysplasia_of_jaw Fibrous dysplasia of jaw Supplemental_disease_name DISEASE_NAME:fibrous_sheath_dysplasia Fibrous Sheath Dysplasia Supplemental_disease_name DISEASE_NAME:ficus_syndrome FICUS syndrome Supplemental_disease_name DISEASE_NAME:fig4_related_disorder FIG4-related disorder Supplemental_disease_name DISEASE_NAME:figla_related_condition FIGLA-related condition Supplemental_disease_name DISEASE_NAME:filip1l_related_disorder FILIP1L-related disorder Supplemental_disease_name DISEASE_NAME:fine_lubinsky_syndrome Fine-Lubinsky syndrome Supplemental_disease_name DISEASE_NAME:finger_syndactyly_palmoplantar_blistering_short_stature_toe_syndactyly Finger syndactyly;Palmoplantar blistering;Short stature;Toe syndactyly Supplemental_disease_name DISEASE_NAME:finger_syndactyly_toe_syndactyly_short_stature_palmoplantar_blistering Finger syndactyly;Toe syndactyly;Short stature;Palmoplantar blistering Supplemental_disease_name DISEASE_NAME:finnish_congenital_nephrotic_syndrome Finnish congenital nephrotic syndrome Supplemental_disease_name DISEASE_NAME:finnish_upper_limb_onset_distal_myopathy Finnish upper limb-onset distal myopathy Supplemental_disease_name DISEASE_NAME:fischer_zirnsak_progeroid_syndrome Fischer-Zirnsak progeroid syndrome Supplemental_disease_name DISEASE_NAME:fish_eye_disease Fish-eye disease Supplemental_disease_name DISEASE_NAME:fish_eye_disease_norum_disease Fish-eye disease;Norum disease Supplemental_disease_name DISEASE_NAME:fitm2_related_disorder FITM2-related disorder Supplemental_disease_name DISEASE_NAME:fkbp10_related_disorder FKBP10-related disorder Supplemental_disease_name DISEASE_NAME:fkbp14_related_disorder FKBP14-related disorder Supplemental_disease_name DISEASE_NAME:fkbp4_related_disorder FKBP4-related disorder Supplemental_disease_name DISEASE_NAME:fkbp6_related_disorder FKBP6-related disorder Supplemental_disease_name DISEASE_NAME:fkbpl_related_disorder FKBPL-related disorder Supplemental_disease_name DISEASE_NAME:fkrp_related_disorder FKRP-related disorder Supplemental_disease_name DISEASE_NAME:fkrp_related_muscular_dystrophy_dystroglycanopathy FKRP-related muscular dystrophy-dystroglycanopathy Supplemental_disease_name DISEASE_NAME:fktn_related_disorder FKTN-related disorder Supplemental_disease_name DISEASE_NAME:flad1_related_disorder FLAD1-related disorder Supplemental_disease_name DISEASE_NAME:flcn_related_disorder FLCN-related disorder Supplemental_disease_name DISEASE_NAME:flexion_contracture Flexion contracture Supplemental_disease_name DISEASE_NAME:flexion_contracture_spastic_diplegia_pes_valgus_spasticity_tip_toe_gait Flexion contracture;Spastic diplegia;Pes valgus;Spasticity;Tip-toe gait Supplemental_disease_name DISEASE_NAME:flg2_related_disorder FLG2-related disorder Supplemental_disease_name DISEASE_NAME:flg_related_disorder FLG-related disorder Supplemental_disease_name DISEASE_NAME:fli1_related_disorder FLI1-related disorder Supplemental_disease_name DISEASE_NAME:flna_related_disorder FLNA-related disorder Supplemental_disease_name DISEASE_NAME:flna_related_lung_disease FLNA related lung disease Supplemental_disease_name DISEASE_NAME:flna_related_otopalatodigital_spectrum_disorders FLNA-Related Otopalatodigital Spectrum Disorders Supplemental_disease_name DISEASE_NAME:flna_related_periventricular_nodular_heterotopia FLNA-related periventricular nodular heterotopia Supplemental_disease_name DISEASE_NAME:flnb_related_disorder FLNB-related disorder Supplemental_disease_name DISEASE_NAME:flnb_related_spectrum_disorder FLNB-related spectrum disorder Supplemental_disease_name DISEASE_NAME:flnb_related_spectrum_disorders FLNB-Related Spectrum Disorders Supplemental_disease_name DISEASE_NAME:flnc_associated_cardiomyopathy FLNC-associated cardiomyopathy Supplemental_disease_name DISEASE_NAME:flnc_related_disorder FLNC-related disorder Supplemental_disease_name DISEASE_NAME:floating_harbor_syndrome_developmental_delay_hypotonia_musculoskeletal_defects_and_behavioral_abnormalities Floating-Harbor syndrome;Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:floppy_infant_cardiomyopathy_left_ventricular_noncompaction Floppy infant;Cardiomyopathy;Left ventricular noncompaction Supplemental_disease_name DISEASE_NAME:floppy_infant_global_developmental_delay Floppy infant;Global developmental delay Supplemental_disease_name DISEASE_NAME:flrt1_related_disorder FLRT1-related disorder Supplemental_disease_name DISEASE_NAME:flrt3_related_disorder FLRT3-related disorder Supplemental_disease_name DISEASE_NAME:flt1_related_disorder FLT1-related disorder Supplemental_disease_name DISEASE_NAME:flt3_related_disorder FLT3-related disorder Supplemental_disease_name DISEASE_NAME:flt4_related_disorder FLT4-related disorder Supplemental_disease_name DISEASE_NAME:flt4_related_disorders FLT4-related disorders Supplemental_disease_name DISEASE_NAME:fluorouracil_response Fluorouracil response Supplemental_disease_name DISEASE_NAME:fluorouracil_response_other fluorouracil response - Other Supplemental_disease_name DISEASE_NAME:fluorouracil_response_toxicity fluorouracil response - Toxicity Supplemental_disease_name DISEASE_NAME:flurbiprofen_response Flurbiprofen response Supplemental_disease_name DISEASE_NAME:fluvastatin_response_metabolism_pk fluvastatin response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:fluvastatin_response_toxicity fluvastatin response - Toxicity Supplemental_disease_name DISEASE_NAME:flvcr1_related_disorder FLVCR1-related disorder Supplemental_disease_name DISEASE_NAME:flvcr2_related_disorder FLVCR2-related disorder Supplemental_disease_name DISEASE_NAME:fmn1_related_disorder FMN1-related disorder Supplemental_disease_name DISEASE_NAME:fmn2_related_disorder FMN2-related disorder Supplemental_disease_name DISEASE_NAME:fmnl2_related_disorder FMNL2-related disorder Supplemental_disease_name DISEASE_NAME:fmo3_activity_decreased FMO3 activity, decreased Supplemental_disease_name DISEASE_NAME:fmo3_related_disorder FMO3-related disorder Supplemental_disease_name DISEASE_NAME:fmr1_related_disorder FMR1-related disorder Supplemental_disease_name DISEASE_NAME:fn1_related_disorder FN1-related disorder Supplemental_disease_name DISEASE_NAME:fnb1_polymorphism FNB1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:fnbp4_related_disorder FNBP4-related disorder Supplemental_disease_name DISEASE_NAME:fndc3a_related_disorder FNDC3A-related disorder Supplemental_disease_name DISEASE_NAME:fndc3b_related_disorder FNDC3B-related disorder Supplemental_disease_name DISEASE_NAME:fnip1_related_disorder FNIP1-related disorder Supplemental_disease_name DISEASE_NAME:focad_related_disorder FOCAD-related disorder Supplemental_disease_name DISEASE_NAME:focal_and_segmental_glomerulosclerosis focal and segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:focal_and_segmental_glomerulosclerosis_autosomal_recessive Focal and Segmental Glomerulosclerosis, Autosomal recessive Supplemental_disease_name DISEASE_NAME:focal_and_segmental_glomerulosclerosis_nephronophthisis_renal_dysplasia_and_retinal_aplasia focal and segmental glomerulosclerosis;Nephronophthisis;Renal dysplasia and retinal aplasia Supplemental_disease_name DISEASE_NAME:focal_clonic_seizure Focal clonic seizure Supplemental_disease_name DISEASE_NAME:focal_cortical_dysplasia_cortical_tubers Focal cortical dysplasia;Cortical tubers Supplemental_disease_name DISEASE_NAME:focal_cortical_dysplasia_of_taylor_type_2b Focal cortical dysplasia of Taylor type 2B Supplemental_disease_name DISEASE_NAME:focal_dermal_hypoplasia_anophthalmia_microphthalmia_syndrome Focal dermal hypoplasia;Anophthalmia-microphthalmia syndrome Supplemental_disease_name DISEASE_NAME:focal_epilepsy_epilepsy_with_generalized_tonic_clonic_seizures_intellectual_disability_unilateral_hypotonia Focal epilepsy;Epilepsy with generalized tonic-clonic seizures;Intellectual disability;Unilateral Hypotonia Supplemental_disease_name DISEASE_NAME:focal_facial_dermal_dysplasia_type_iii Focal facial dermal dysplasia type III Supplemental_disease_name DISEASE_NAME:focal_facial_dermal_dysplasia_type_iv Focal facial dermal dysplasia type IV Supplemental_disease_name DISEASE_NAME:focal_impaired_awareness_seizure Focal impaired awareness seizure Supplemental_disease_name DISEASE_NAME:focal_impaired_awareness_seizure_seizure_attention_deficit_hyperactivity_disorder Focal impaired awareness seizure;Seizure;Attention deficit hyperactivity disorder Supplemental_disease_name DISEASE_NAME:focal_onset_seizure Focal-onset seizure Supplemental_disease_name DISEASE_NAME:focal_onset_seizure_ectopic_tissue_corpus_callosum_agenesis_of_seizure Focal-onset seizure;Ectopic tissue;Corpus callosum, agenesis of;Seizure Supplemental_disease_name DISEASE_NAME:focal_onset_seizure_moderate_global_developmental_delay_epileptic_encephalopathy Focal-onset seizure;Moderate global developmental delay;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:focal_onset_seizure_seizure_hyperactivity_gait_imbalance Focal-onset seizure;Seizure;Hyperactivity;Gait imbalance Supplemental_disease_name DISEASE_NAME:focal_palmoplantar_keratoderma Focal palmoplantar keratoderma Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_3_susceptibility_to Focal segmental glomerulosclerosis 3, susceptibility to Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_4_susceptibility_to Focal segmental glomerulosclerosis 4, susceptibility to Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_5_charcot_marie_tooth_disease_dominant_intermediate_e Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_7_renal_coloboma_syndrome Focal segmental glomerulosclerosis 7;Renal coloboma syndrome Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_9_ventriculomegaly_cystic_kidney_disease Focal segmental glomerulosclerosis 9;Ventriculomegaly-cystic kidney disease Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_and_dilated_cardiomyopathy Focal segmental glomerulosclerosis and dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_and_neurodevelopmental_syndrome Focal segmental glomerulosclerosis and neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_finnish_congenital_nephrotic_syndrome Focal segmental glomerulosclerosis;Finnish congenital nephrotic syndrome Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_nephronophthisis_4_senior_loken_syndrome_4 Focal segmental glomerulosclerosis;Nephronophthisis 4;Senior-Loken syndrome 4 Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_neurodevelopmental_delay_seizure Focal segmental glomerulosclerosis;Neurodevelopmental delay;Seizure Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_pierson_syndrome Focal segmental glomerulosclerosis;Pierson syndrome Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_proteinuria_renal_insufficiency_hypertensive_disorder Focal segmental glomerulosclerosis;Proteinuria;Renal insufficiency;Hypertensive disorder Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_seizure_neurodevelopmental_delay Focal segmental glomerulosclerosis;Seizure;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_sickled_erythrocytes Focal segmental glomerulosclerosis;Sickled erythrocytes Supplemental_disease_name DISEASE_NAME:focal_segmental_glomerulosclerosis_steroid_resistant_nephrotic_syndrome Focal segmental glomerulosclerosis;Steroid-resistant nephrotic syndrome Supplemental_disease_name DISEASE_NAME:focal_white_matter_lesions_ischemic_stroke Focal white matter lesions;Ischemic stroke Supplemental_disease_name DISEASE_NAME:follicular_atrophoderma_and_basal_cell_epitheliomata Follicular atrophoderma and basal cell epitheliomata Supplemental_disease_name DISEASE_NAME:folr1_related_disorder FOLR1-related disorder Supplemental_disease_name DISEASE_NAME:folr3_related_disorder FOLR3-related disorder Supplemental_disease_name DISEASE_NAME:foot_dorsiflexor_weakness_steppage_gait_hearing_impairment_peripheral_axonal_neuropathy Foot dorsiflexor weakness;Steppage gait;Hearing impairment;Peripheral axonal neuropathy Supplemental_disease_name DISEASE_NAME:forebrain_defects Forebrain defects Supplemental_disease_name DISEASE_NAME:foveal_hypoplasia Foveal hypoplasia Supplemental_disease_name DISEASE_NAME:foveal_hypoplasia_1_with_cataract Foveal hypoplasia 1 with cataract Supplemental_disease_name DISEASE_NAME:foveal_hypoplasia_1_with_or_without_anterior_segment_anomalies Foveal hypoplasia 1 with or without anterior segment anomalies Supplemental_disease_name DISEASE_NAME:foveal_hypoplasia_2_and_optic_nerve_misrouting_with_or_without_anterior_segment_dysgenesis Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis Supplemental_disease_name DISEASE_NAME:foveal_hypoplasia_2_with_optic_nerve_misrouting FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING Supplemental_disease_name DISEASE_NAME:foveal_hypoplasia_2_with_optic_nerve_misrouting_and_anterior_segment_dysgenesis FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS Supplemental_disease_name DISEASE_NAME:foveal_hypoplasia_3 Foveal hypoplasia 3 Supplemental_disease_name DISEASE_NAME:foveal_hypoplasia_optic_nerve_decussation_defect_anterior_segment_dysgenesis_syndrome Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome Supplemental_disease_name DISEASE_NAME:foxa2_related_disorder FOXA2-related disorder Supplemental_disease_name DISEASE_NAME:foxa3_related_disorder FOXA3-related disorder Supplemental_disease_name DISEASE_NAME:foxc1_related_anterior_segment_dysgenesis FOXC1-related anterior segment dysgenesis Supplemental_disease_name DISEASE_NAME:foxc1_related_disorder FOXC1-related disorder Supplemental_disease_name DISEASE_NAME:foxc2_related_disorder FOXC2-related disorder Supplemental_disease_name DISEASE_NAME:foxd1_related_disorder FOXD1-related disorder Supplemental_disease_name DISEASE_NAME:foxd2_associated_disorder FOXD2-associated disorder Supplemental_disease_name DISEASE_NAME:foxd3_related_disorder FOXD3-related disorder Supplemental_disease_name DISEASE_NAME:foxe1_related_disorder FOXE1-related disorder Supplemental_disease_name DISEASE_NAME:foxe3_related_disorder FOXE3-related disorder Supplemental_disease_name DISEASE_NAME:foxf1_related_disorder FOXF1-related disorder Supplemental_disease_name DISEASE_NAME:foxf2_related_disorder FOXF2-related disorder Supplemental_disease_name DISEASE_NAME:foxg1_disorder FOXG1 disorder Supplemental_disease_name DISEASE_NAME:foxg1_related_disorder FOXG1-related disorder Supplemental_disease_name DISEASE_NAME:foxh1_related_disorder FOXH1-related disorder Supplemental_disease_name DISEASE_NAME:foxi1_related_disorder FOXI1-related disorder Supplemental_disease_name DISEASE_NAME:foxi3_related_disorder FOXI3-related disorder Supplemental_disease_name DISEASE_NAME:foxj1_related_disorder FOXJ1-related disorder Supplemental_disease_name DISEASE_NAME:foxl2_related_disorder FOXL2-related disorder Supplemental_disease_name DISEASE_NAME:foxn1_related_disorder FOXN1-related disorder Supplemental_disease_name DISEASE_NAME:foxo1_related_disorder FOXO1-related disorder Supplemental_disease_name DISEASE_NAME:foxp1_related_disorder FOXP1-related disorder Supplemental_disease_name DISEASE_NAME:foxp2_related_disorder FOXP2-related disorder Supplemental_disease_name DISEASE_NAME:foxp3_related_disorder FOXP3-related disorder Supplemental_disease_name DISEASE_NAME:foxp4_related_disorder FOXP4-related disorder Supplemental_disease_name DISEASE_NAME:foxp4_related_neurodevelopmental_disorder FOXP4-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:foxred1_related_disorder FOXRED1-related disorder Supplemental_disease_name DISEASE_NAME:fpgt_tnni3k_related_disorder FPGT-TNNI3K-related disorder Supplemental_disease_name DISEASE_NAME:fpr1_polymorphism FPR1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:fpr1_related_disorder FPR1-related disorder Supplemental_disease_name DISEASE_NAME:fra10ac1_related_condition FRA10AC1-related condition Supplemental_disease_name DISEASE_NAME:fragile_site_11b_cbl_related_disorder Fragile site 11b;CBL-related disorder Supplemental_disease_name DISEASE_NAME:fragile_x_associated_tremor_ataxia_syndrome_fragile_x_syndrome_premature_ovarian_failure_1 Fragile X-associated tremor/ataxia syndrome;Fragile X syndrome;Premature ovarian failure 1 Supplemental_disease_name DISEASE_NAME:fragile_x_associated_tremor_ataxia_syndrome_premature_ovarian_failure_1_fragile_x_syndrome Fragile X-associated tremor/ataxia syndrome;Premature ovarian failure 1;Fragile X syndrome Supplemental_disease_name DISEASE_NAME:fragile_x_syndrome_premature_ovarian_failure_1_fragile_x_associated_tremor_ataxia_syndrome Fragile X syndrome;Premature ovarian failure 1;Fragile X-associated tremor/ataxia syndrome Supplemental_disease_name DISEASE_NAME:fras1_related_disorder FRAS1-related disorder Supplemental_disease_name DISEASE_NAME:fraser_syndrome_2_isolated_cryptophthalmia Fraser syndrome 2;Isolated cryptophthalmia Supplemental_disease_name DISEASE_NAME:frasier_syndrome_11p_partial_monosomy_syndrome_drash_syndrome_wilms_tumor_1 Frasier syndrome;11p partial monosomy syndrome;Drash syndrome;Wilms tumor 1 Supplemental_disease_name DISEASE_NAME:frasier_syndrome_drash_syndrome Frasier syndrome;Drash syndrome Supplemental_disease_name DISEASE_NAME:frasier_syndrome_drash_syndrome_wilms_tumor_1_11p_partial_monosomy_syndrome Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:frasier_syndrome_nephrotic_syndrome_type_4_wilms_tumor_1_drash_syndrome Frasier syndrome;Nephrotic syndrome, type 4;Wilms tumor 1;Drash syndrome Supplemental_disease_name DISEASE_NAME:frasier_syndrome_wilms_tumor_1_11p_partial_monosomy_syndrome_drash_syndrome Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome Supplemental_disease_name DISEASE_NAME:frasier_syndrome_wilms_tumor_1_drash_syndrome_11p_partial_monosomy_syndrome Frasier syndrome;Wilms tumor 1;Drash syndrome;11p partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:fraxe FRAXE Supplemental_disease_name DISEASE_NAME:free_sialic_acid_storage_disease Free sialic acid storage disease Supplemental_disease_name DISEASE_NAME:freeman_sheldon_syndrome_arthrogryposis_distal_type_2b3 Freeman-Sheldon syndrome;Arthrogryposis, distal, type 2B3 Supplemental_disease_name DISEASE_NAME:freeman_sheldon_syndrome_arthrogryposis_distal_type_2b3_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a Freeman-Sheldon syndrome;Arthrogryposis, distal, type 2B3;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Supplemental_disease_name DISEASE_NAME:freeman_sheldon_syndrome_arthrogryposis_distal_type_2b3_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a_contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b Freeman-Sheldon syndrome;Arthrogryposis, distal, type 2B3;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Contractures, pterygia, and variable skeletal fusions syndrome 1B Supplemental_disease_name DISEASE_NAME:freeman_sheldon_syndrome_arthrogryposis_distal_type_2b3_contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a Freeman-Sheldon syndrome;Arthrogryposis, distal, type 2B3;Contractures, pterygia, and variable skeletal fusions syndrome 1B;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Supplemental_disease_name DISEASE_NAME:freeman_sheldon_syndrome_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a_arthrogryposis_distal_type_2b3_contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b Freeman-Sheldon syndrome;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Arthrogryposis, distal, type 2B3;Contractures, pterygia, and variable skeletal fusions syndrome 1B Supplemental_disease_name DISEASE_NAME:freeman_sheldon_syndrome_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a_contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b_arthrogryposis_distal_type_2b3 Freeman-Sheldon syndrome;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A;Contractures, pterygia, and variable skeletal fusions syndrome 1B;Arthrogryposis, distal, type 2B3 Supplemental_disease_name DISEASE_NAME:freeman_sheldon_syndrome_contractures_pterygia_and_variable_skeletal_fusions_syndrome_1b_arthrogryposis_distal_type_2b3_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a Freeman-Sheldon syndrome;Contractures, pterygia, and variable skeletal fusions syndrome 1B;Arthrogryposis, distal, type 2B3;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Supplemental_disease_name DISEASE_NAME:freeman_sheldon_syndrome_distal_arthrogryposis_type_2b1_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a Freeman-Sheldon syndrome;Distal arthrogryposis type 2B1;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Supplemental_disease_name DISEASE_NAME:frem1_related_disorder FREM1-related disorder Supplemental_disease_name DISEASE_NAME:frem2_related_disorder FREM2-related disorder Supplemental_disease_name DISEASE_NAME:frg1_related_disorder FRG1-related disorder Supplemental_disease_name DISEASE_NAME:fried_syndrome_pettigrew_syndrome Fried syndrome;Pettigrew syndrome Supplemental_disease_name DISEASE_NAME:friedreich_ataxia_with_retained_reflexes Friedreich ataxia with retained reflexes Supplemental_disease_name DISEASE_NAME:frmd4a_related_disorder FRMD4A-related disorder Supplemental_disease_name DISEASE_NAME:frmd5_related_condition FRMD5-related condition Supplemental_disease_name DISEASE_NAME:frmd7_related_disorder FRMD7-related disorder Supplemental_disease_name DISEASE_NAME:frmpd4_related_disorder FRMPD4-related disorder Supplemental_disease_name DISEASE_NAME:frontal_bossing_hypertelorism_strabismus_global_developmental_delay_high_anterior_hairline Frontal bossing;Hypertelorism;Strabismus;Global developmental delay;High anterior hairline Supplemental_disease_name DISEASE_NAME:frontometaphyseal_dysplasia_1_oto_palato_digital_syndrome_type_ii_heterotopia_periventricular_x_linked_dominant_melnick_needles_syndrome Frontometaphyseal dysplasia 1;Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome Supplemental_disease_name DISEASE_NAME:frontometaphyseal_dysplasia_2_cardiospondylocarpofacial_syndrome Frontometaphyseal dysplasia 2;Cardiospondylocarpofacial syndrome Supplemental_disease_name DISEASE_NAME:frontometaphyseal_dysplasia_heterotopia_periventricular_x_linked_dominant_melnick_needles_syndrome_oto_palato_digital_syndrome_type_ii Frontometaphyseal dysplasia;Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II Supplemental_disease_name DISEASE_NAME:frontometaphyseal_dysplasia_heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_ii_melnick_needles_syndrome Frontometaphyseal dysplasia;Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome Supplemental_disease_name DISEASE_NAME:frontometaphyseal_dysplasia_melnick_needles_syndrome_heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_ii Frontometaphyseal dysplasia;Melnick-Needles syndrome;Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II Supplemental_disease_name DISEASE_NAME:frontometaphyseal_dysplasia_melnick_needles_syndrome_oto_palato_digital_syndrome_type_ii_heterotopia_periventricular_x_linked_dominant Frontometaphyseal dysplasia;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant Supplemental_disease_name DISEASE_NAME:frontometaphyseal_dysplasia_oto_palato_digital_syndrome_type_ii_heterotopia_periventricular_x_linked_dominant_melnick_needles_syndrome Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome Supplemental_disease_name DISEASE_NAME:frontometaphyseal_dysplasia_oto_palato_digital_syndrome_type_ii_melnick_needles_syndrome_heterotopia_periventricular_x_linked_dominant Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome;Heterotopia, periventricular, X-linked dominant Supplemental_disease_name DISEASE_NAME:frontonasal_dysplasia_severe_microphthalmia_severe_facial_clefting_syndrome Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Supplemental_disease_name DISEASE_NAME:frontonasal_dysplasia_with_alopecia_and_genital_anomaly Frontonasal dysplasia with alopecia and genital anomaly Supplemental_disease_name DISEASE_NAME:frontonasal_dysplasia_with_alopecia_and_genital_anomaly_craniosynostosis_5_susceptibility_to_parietal_foramina_2 Frontonasal dysplasia with alopecia and genital anomaly;Craniosynostosis 5, susceptibility to;Parietal foramina 2 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_acne_inversa_familial_3_alzheimer_disease_3_pick_disease Frontotemporal dementia;Acne inversa, familial, 3;Alzheimer disease 3;Pick disease Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_acne_inversa_familial_3_pick_disease_alzheimer_disease_3 Frontotemporal dementia;Acne inversa, familial, 3;Pick disease;Alzheimer disease 3 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_alzheimer_disease_3_acne_inversa_familial_3_dilated_cardiomyopathy_1u_pick_disease Frontotemporal dementia;Alzheimer disease 3;Acne inversa, familial, 3;Dilated cardiomyopathy 1U;Pick disease Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_alzheimer_disease_3_acne_inversa_familial_3_pick_disease Frontotemporal dementia;Alzheimer disease 3;Acne inversa, familial, 3;Pick disease Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_alzheimer_disease_3_pick_disease Frontotemporal dementia;Alzheimer disease 3;Pick disease Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_alzheimer_disease_3_pick_disease_acne_inversa_familial_3 Frontotemporal dementia;Alzheimer disease 3;Pick disease;Acne inversa, familial, 3 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis Frontotemporal dementia and/or amyotrophic lateral sclerosis Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_1_paget_disease_of_bone_2_early_onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;Paget disease of bone 2, early-onset Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_2_autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance_lower_motor_neuron_syndrome_with_late_adult_onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Autosomal dominant mitochondrial myopathy with exercise intolerance;Lower motor neuron syndrome with late-adult onset Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_2_lower_motor_neuron_syndrome_with_late_adult_onset_autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Lower motor neuron syndrome with late-adult onset;Autosomal dominant mitochondrial myopathy with exercise intolerance Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_3_neurodegeneration_with_ataxia_dystonia_and_gaze_palsy_childhood_onset_myopathy_distal_with_rimmed_vacuoles_paget_disease_of_bone_3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;Myopathy, distal, with rimmed vacuoles;Paget disease of bone 3 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_3_paget_disease_of_bone_3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Paget disease of bone 3 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_3_paget_disease_of_bone_3_myopathy_distal_with_rimmed_vacuoles_neurodegeneration_with_ataxia_dystonia_and_gaze_palsy_childhood_onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Paget disease of bone 3;Myopathy, distal, with rimmed vacuoles;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_4_autoinflammation_with_arthritis_and_vasculitis_encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_8 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Autoinflammation with arthritis and vasculitis;Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_4_encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_8 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_5 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_6_inclusion_body_myopathy_with_paget_disease_of_bone_and_frontotemporal_dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_6_inclusion_body_myopathy_with_paget_disease_of_bone_and_frontotemporal_dementia_type_1_charcot_marie_tooth_disease_type_2y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1;Charcot-Marie-Tooth disease type 2Y Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_8 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_8_familial_cylindromatosis_brooke_spiegler_syndrome_trichoepithelioma_multiple_familial_1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8;Familial cylindromatosis;Brooke-Spiegler syndrome;Trichoepithelioma, multiple familial, 1 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_ataxia Frontotemporal dementia;Ataxia Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_brain_atrophy_rigidity_parkinsonian_disorder Frontotemporal dementia;Brain atrophy;Rigidity;Parkinsonian disorder Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_mental_deterioration_memory_impairment Frontotemporal dementia;Mental deterioration;Memory impairment Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome_pick_disease_supranuclear_palsy_progressive_1 Frontotemporal dementia;Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome;Pick disease;Supranuclear palsy, progressive, 1 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome_supranuclear_palsy_progressive_1_pick_disease Frontotemporal dementia;Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome;Supranuclear palsy, progressive, 1;Pick disease Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_pick_disease_acne_inversa_familial_3_alzheimer_disease_3 Frontotemporal dementia;Pick disease;Acne inversa, familial, 3;Alzheimer disease 3 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_pick_disease_alzheimer_disease_3_acne_inversa_familial_3 Frontotemporal dementia;Pick disease;Alzheimer disease 3;Acne inversa, familial, 3 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_pick_disease_parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome_supranuclear_palsy_progressive_1 Frontotemporal dementia;Pick disease;Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome;Supranuclear palsy, progressive, 1 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_progressive_supranuclear_ophthalmoplegia_pick_disease Frontotemporal dementia;Progressive supranuclear ophthalmoplegia;Pick disease Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_supranuclear_palsy_progressive_1 Frontotemporal dementia;Supranuclear palsy, progressive, 1 Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_supranuclear_palsy_progressive_1_pick_disease_parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome Frontotemporal dementia;Supranuclear palsy, progressive, 1;Pick disease;Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_with_tdp43_inclusions_tardbp_related FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED Supplemental_disease_name DISEASE_NAME:frontotemporal_dementia_without_amyotrophic_lateral_sclerosis_6_with_neurofibrillary_tangles FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES Supplemental_disease_name DISEASE_NAME:frontotemporal_lobar_degeneration_with_tdp43_inclusions_tardbp_related FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Supplemental_disease_name DISEASE_NAME:frontotemporal_lobar_degeneration_with_tdp43_inclusions_tardbp_related_amyotrophic_lateral_sclerosis_type_10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10 Supplemental_disease_name DISEASE_NAME:frontotemporal_lobar_degeneration_with_ubiquitin_positive_inclusions_susceptibility_to FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:frontotemporal_lobe_degeneration Frontotemporal lobe degeneration Supplemental_disease_name DISEASE_NAME:frrs1l_related_disorder FRRS1L-related disorder Supplemental_disease_name DISEASE_NAME:fructose_biphosphatase_deficiency Fructose-biphosphatase deficiency Supplemental_disease_name DISEASE_NAME:fry_related_condition FRY-related condition Supplemental_disease_name DISEASE_NAME:fryl_associated_neurodevelopmental_disorder FRYL-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:fryl_related_developmental_disorder FRYL-related developmental disorder Supplemental_disease_name DISEASE_NAME:fryl_related_disorder FRYL-related disorder Supplemental_disease_name DISEASE_NAME:frzb_related_disorder FRZB-related disorder Supplemental_disease_name DISEASE_NAME:fscn2_related_disorder FSCN2-related disorder Supplemental_disease_name DISEASE_NAME:fshb_related_disorder FSHB-related disorder Supplemental_disease_name DISEASE_NAME:fshr_related_disorder FSHR-related disorder Supplemental_disease_name DISEASE_NAME:fsip2_related_disorder FSIP2-related disorder Supplemental_disease_name DISEASE_NAME:ftcd_as1_related_disorder FTCD-AS1-related disorder Supplemental_disease_name DISEASE_NAME:ftcd_related_disorder FTCD-related disorder Supplemental_disease_name DISEASE_NAME:fth1_related_disorder FTH1-related disorder Supplemental_disease_name DISEASE_NAME:ftl_related_disorder FTL-related disorder Supplemental_disease_name DISEASE_NAME:fto_related_disorder FTO-related disorder Supplemental_disease_name DISEASE_NAME:ftsj1_related_disorder FTSJ1-related disorder Supplemental_disease_name DISEASE_NAME:fu1_fu2_polymorphism FU1/FU2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:fuca1_related_disorder FUCA1-related disorder Supplemental_disease_name DISEASE_NAME:fucosyltransferase_6_deficiency Fucosyltransferase 6 deficiency Supplemental_disease_name DISEASE_NAME:fuhrmann_syndrome_santos_syndrome_schinzel_phocomelia_syndrome Fuhrmann syndrome;Santos syndrome;Schinzel phocomelia syndrome Supplemental_disease_name DISEASE_NAME:fuhrmann_syndrome_schinzel_phocomelia_syndrome_santos_syndrome Fuhrmann syndrome;Schinzel phocomelia syndrome;Santos syndrome Supplemental_disease_name DISEASE_NAME:fulminant_hepatic_failure Fulminant hepatic failure Supplemental_disease_name DISEASE_NAME:fumarase_deficiency_hereditary_leiomyomatosis_and_renal_cell_cancer Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer Supplemental_disease_name DISEASE_NAME:fumarylacetoacetase_pseudodeficiency Fumarylacetoacetase pseudodeficiency Supplemental_disease_name DISEASE_NAME:functional_abnormality_of_the_bladder_motor_delay Functional abnormality of the bladder;Motor delay Supplemental_disease_name DISEASE_NAME:fundus_albipunctatus_autosomal_recessive Fundus albipunctatus, autosomal recessive Supplemental_disease_name DISEASE_NAME:fundus_dystrophy_pseudoinflammatory_recessive_form Fundus dystrophy, pseudoinflammatory, recessive form Supplemental_disease_name DISEASE_NAME:fus_related_disorder FUS-related disorder Supplemental_disease_name DISEASE_NAME:fut1_related_disorder FUT1-related disorder Supplemental_disease_name DISEASE_NAME:fut2_related_disorder FUT2-related disorder Supplemental_disease_name DISEASE_NAME:fut3_related_disorder FUT3-related disorder Supplemental_disease_name DISEASE_NAME:fut6_related_disorder FUT6-related disorder Supplemental_disease_name DISEASE_NAME:fut8_related_disorder FUT8-related disorder Supplemental_disease_name DISEASE_NAME:fuz_related_disorder FUZ-related disorder Supplemental_disease_name DISEASE_NAME:fxn_related_disorder FXN-related disorder Supplemental_disease_name DISEASE_NAME:fxr1_related_disorder FXR1-related disorder Supplemental_disease_name DISEASE_NAME:fxyd2_related_disorder FXYD2-related disorder Supplemental_disease_name DISEASE_NAME:fxyd6_fxyd2_related_disorder FXYD6-FXYD2-related disorder Supplemental_disease_name DISEASE_NAME:fyb1_related_disorder FYB1-related disorder Supplemental_disease_name DISEASE_NAME:fyco1_related_disorder FYCO1-related disorder Supplemental_disease_name DISEASE_NAME:fzd2_related_disorder FZD2-related disorder Supplemental_disease_name DISEASE_NAME:fzd4_related_disorder FZD4-related disorder Supplemental_disease_name DISEASE_NAME:fzd5_related_disorder FZD5-related disorder Supplemental_disease_name DISEASE_NAME:fzd6_related_disorder FZD6-related disorder Supplemental_disease_name DISEASE_NAME:fzr1_related_condition FZR1-related condition Supplemental_disease_name DISEASE_NAME:g6pc1_related_disorder G6PC1-related disorder Supplemental_disease_name DISEASE_NAME:g6pc2_related_disorder G6PC2-related disorder Supplemental_disease_name DISEASE_NAME:g6pc3_related_disorder G6PC3-related disorder Supplemental_disease_name DISEASE_NAME:g6pd_a G6PD A+ Supplemental_disease_name DISEASE_NAME:g6pd_agrigento G6PD AGRIGENTO Supplemental_disease_name DISEASE_NAME:g6pd_alhambra G6PD ALHAMBRA Supplemental_disease_name DISEASE_NAME:g6pd_anaheim G6PD ANAHEIM Supplemental_disease_name DISEASE_NAME:g6pd_anant G6PD ANANT Supplemental_disease_name DISEASE_NAME:g6pd_andalus G6PD ANDALUS Supplemental_disease_name DISEASE_NAME:g6pd_asahi G6PD ASAHI Supplemental_disease_name DISEASE_NAME:g6pd_aures G6PD AURES Supplemental_disease_name DISEASE_NAME:g6pd_aveiro G6PD AVEIRO Supplemental_disease_name DISEASE_NAME:g6pd_beverly_hills G6PD BEVERLY HILLS Supplemental_disease_name DISEASE_NAME:g6pd_cagliari G6PD CAGLIARI Supplemental_disease_name DISEASE_NAME:g6pd_canton G6PD CANTON Supplemental_disease_name DISEASE_NAME:g6pd_chatham G6PD CHATHAM Supplemental_disease_name DISEASE_NAME:g6pd_coimbra G6PD COIMBRA Supplemental_disease_name DISEASE_NAME:g6pd_cosenza G6PD COSENZA Supplemental_disease_name DISEASE_NAME:g6pd_deficiency G6PD deficiency Supplemental_disease_name DISEASE_NAME:g6pd_deficiency_anemia_nonspherocytic_hemolytic_due_to_g6pd_deficiency G6PD deficiency;Anemia, nonspherocytic hemolytic, due to G6PD deficiency Supplemental_disease_name DISEASE_NAME:g6pd_deficient_hemolytic_anemia G6PD deficient hemolytic anemia Supplemental_disease_name DISEASE_NAME:g6pd_dhon G6PD DHON Supplemental_disease_name DISEASE_NAME:g6pd_gaohe G6PD GAOHE Supplemental_disease_name DISEASE_NAME:g6pd_gastonia G6PD GASTONIA Supplemental_disease_name DISEASE_NAME:g6pd_gifu G6PD GIFU Supplemental_disease_name DISEASE_NAME:g6pd_guadalajara G6PD GUADALAJARA Supplemental_disease_name DISEASE_NAME:g6pd_harilaou G6PD HARILAOU Supplemental_disease_name DISEASE_NAME:g6pd_ierapetra G6PD IERAPETRA Supplemental_disease_name DISEASE_NAME:g6pd_ilesha G6PD ILESHA Supplemental_disease_name DISEASE_NAME:g6pd_iowa G6PD IOWA Supplemental_disease_name DISEASE_NAME:g6pd_iowa_city G6PD IOWA CITY Supplemental_disease_name DISEASE_NAME:g6pd_jammu G6PD JAMMU Supplemental_disease_name DISEASE_NAME:g6pd_japan G6PD JAPAN Supplemental_disease_name DISEASE_NAME:g6pd_kaiping G6PD KAIPING Supplemental_disease_name DISEASE_NAME:g6pd_kalyan G6PD KALYAN Supplemental_disease_name DISEASE_NAME:g6pd_kerala G6PD KERALA Supplemental_disease_name DISEASE_NAME:g6pd_kerala_kalyan G6PD KERALA-KALYAN Supplemental_disease_name DISEASE_NAME:g6pd_loma_linda G6PD LOMA LINDA Supplemental_disease_name DISEASE_NAME:g6pd_mahidol G6PD MAHIDOL Supplemental_disease_name DISEASE_NAME:g6pd_mahidol_like G6PD MAHIDOL-LIKE Supplemental_disease_name DISEASE_NAME:g6pd_malaga G6PD MALAGA Supplemental_disease_name DISEASE_NAME:g6pd_marion G6PD MARION Supplemental_disease_name DISEASE_NAME:g6pd_mediterranean G6PD MEDITERRANEAN Supplemental_disease_name DISEASE_NAME:g6pd_metaponto G6PD METAPONTO Supplemental_disease_name DISEASE_NAME:g6pd_mexico_city G6PD MEXICO CITY Supplemental_disease_name DISEASE_NAME:g6pd_minnesota G6PD MINNESOTA Supplemental_disease_name DISEASE_NAME:g6pd_modena G6PD MODENA Supplemental_disease_name DISEASE_NAME:g6pd_namoru G6PD NAMORU Supplemental_disease_name DISEASE_NAME:g6pd_nankang G6PD NANKANG Supplemental_disease_name DISEASE_NAME:g6pd_nashville G6PD NASHVILLE Supplemental_disease_name DISEASE_NAME:g6pd_neapolis G6PD NEAPOLIS Supplemental_disease_name DISEASE_NAME:g6pd_nilgiri G6PD NILGIRI Supplemental_disease_name DISEASE_NAME:g6pd_orissa G6PD ORISSA Supplemental_disease_name DISEASE_NAME:g6pd_pawnee G6PD PAWNEE Supplemental_disease_name DISEASE_NAME:g6pd_petrich_like G6PD PETRICH-LIKE Supplemental_disease_name DISEASE_NAME:g6pd_portici G6PD PORTICI Supplemental_disease_name DISEASE_NAME:g6pd_puerto_limon G6PD PUERTO LIMON Supplemental_disease_name DISEASE_NAME:g6pd_quing_yuan G6PD QUING YUAN Supplemental_disease_name DISEASE_NAME:g6pd_rehovot G6PD REHOVOT Supplemental_disease_name DISEASE_NAME:g6pd_related_disorder G6PD-related disorder Supplemental_disease_name DISEASE_NAME:g6pd_riverside G6PD RIVERSIDE Supplemental_disease_name DISEASE_NAME:g6pd_santiago G6PD SANTIAGO Supplemental_disease_name DISEASE_NAME:g6pd_santiago_de_cuba G6PD SANTIAGO DE CUBA Supplemental_disease_name DISEASE_NAME:g6pd_sapporo_like G6PD SAPPORO-LIKE Supplemental_disease_name DISEASE_NAME:g6pd_sassari G6PD SASSARI Supplemental_disease_name DISEASE_NAME:g6pd_seattle_like G6PD SEATTLE-LIKE Supplemental_disease_name DISEASE_NAME:g6pd_serres G6PD SERRES Supplemental_disease_name DISEASE_NAME:g6pd_split G6PD SPLIT Supplemental_disease_name DISEASE_NAME:g6pd_springfield G6PD SPRINGFIELD Supplemental_disease_name DISEASE_NAME:g6pd_sunderland G6PD SUNDERLAND Supplemental_disease_name DISEASE_NAME:g6pd_taiwan_hakka G6PD TAIWAN-HAKKA Supplemental_disease_name DISEASE_NAME:g6pd_taiwan_hakka_2 G6PD TAIWAN-HAKKA 2 Supplemental_disease_name DISEASE_NAME:g6pd_tomah G6PD TOMAH Supplemental_disease_name DISEASE_NAME:g6pd_varnsdorf G6PD VARNSDORF Supplemental_disease_name DISEASE_NAME:g6pd_viangchan G6PD VIANGCHAN Supplemental_disease_name DISEASE_NAME:g6pd_walter_reed G6PD WALTER REED Supplemental_disease_name DISEASE_NAME:g6pd_zurich G6PD ZURICH Supplemental_disease_name DISEASE_NAME:gaa_related_disorder GAA-related disorder Supplemental_disease_name DISEASE_NAME:gab1_related_disorder GAB1-related disorder Supplemental_disease_name DISEASE_NAME:gabbr1_associated_neurodevelopmental_disorder GABBR1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:gabbr1_related_neurodevelopmental_disorder GABBR1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:gabbr2_related_disorder GABBR2-related disorder Supplemental_disease_name DISEASE_NAME:gabra1_related_disorder GABRA1-related disorder Supplemental_disease_name DISEASE_NAME:gabra2_related_disorder GABRA2-related disorder Supplemental_disease_name DISEASE_NAME:gabra3_related_disorder GABRA3-related disorder Supplemental_disease_name DISEASE_NAME:gabra4_associated_disorder GABRA4-associated disorder Supplemental_disease_name DISEASE_NAME:gabra4_related_developmental_and_epileptic_encephalopathy GABRA4-related developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:gabra4_related_disorder GABRA4-related disorder Supplemental_disease_name DISEASE_NAME:gabra4_related_epileptic_and_neurodevelopmental_disorder GABRA4-related Epileptic and Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:gabra5_related_disorder GABRA5-related disorder Supplemental_disease_name DISEASE_NAME:gabra6_related_disorder GABRA6-related disorder Supplemental_disease_name DISEASE_NAME:gabrb1_related_disorder GABRB1-related disorder Supplemental_disease_name DISEASE_NAME:gabrb2_related_disorder GABRB2-related disorder Supplemental_disease_name DISEASE_NAME:gabrb2_related_epileptic_encephalopathy GABRB2-related epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:gabrb2_related_neurodevelopmental_disorders GABRB2-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:gabrb3_related_disorder GABRB3-related disorder Supplemental_disease_name DISEASE_NAME:gabrd_related_disorder GABRD-related disorder Supplemental_disease_name DISEASE_NAME:gabrd_related_disorders GABRD-Related Disorders Supplemental_disease_name DISEASE_NAME:gabre_related_disorder GABRE-related disorder Supplemental_disease_name DISEASE_NAME:gabre_related_epilepsy GABRE-related epilepsy Supplemental_disease_name DISEASE_NAME:gabrg2_related_disorder GABRG2-related disorder Supplemental_disease_name DISEASE_NAME:gabrg3_related_disorder GABRG3-related disorder Supplemental_disease_name DISEASE_NAME:gabriele_de_vries_syndrome Gabriele-de Vries syndrome Supplemental_disease_name DISEASE_NAME:gabrq_related_disorder GABRQ-related disorder Supplemental_disease_name DISEASE_NAME:gad1_related_disorder GAD1-related disorder Supplemental_disease_name DISEASE_NAME:gadd45g_related_disorder GADD45G-related disorder Supplemental_disease_name DISEASE_NAME:gait_ataxia Gait ataxia Supplemental_disease_name DISEASE_NAME:gait_ataxia_cerebellar_atrophy_dysarthria Gait ataxia;Cerebellar atrophy;Dysarthria Supplemental_disease_name DISEASE_NAME:gait_ataxia_dysarthria_cerebellar_atrophy Gait ataxia;Dysarthria;Cerebellar atrophy Supplemental_disease_name DISEASE_NAME:gait_ataxia_episodic_ataxia_type_2_epileptic_encephalopathy Gait ataxia;Episodic ataxia type 2;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:gait_ataxia_gait_imbalance_dysmetria Gait ataxia;Gait imbalance;Dysmetria Supplemental_disease_name DISEASE_NAME:gait_ataxia_severe_global_developmental_delay_intellectual_disability Gait ataxia;Severe global developmental delay;Intellectual disability Supplemental_disease_name DISEASE_NAME:gait_disturbance Gait disturbance Supplemental_disease_name DISEASE_NAME:gal_related_disorder GAL-related disorder Supplemental_disease_name DISEASE_NAME:galactosemia_iii_severe Galactosemia III, severe Supplemental_disease_name DISEASE_NAME:galactosialidosis_adult GALACTOSIALIDOSIS, ADULT Supplemental_disease_name DISEASE_NAME:galactosialidosis_early_infantile GALACTOSIALIDOSIS, EARLY INFANTILE Supplemental_disease_name DISEASE_NAME:galactosialidosis_late_infantile GALACTOSIALIDOSIS, LATE INFANTILE Supplemental_disease_name DISEASE_NAME:galc_related_disorder GALC-related disorder Supplemental_disease_name DISEASE_NAME:gale_related_disorder GALE-related disorder Supplemental_disease_name DISEASE_NAME:galk1_related_disorder GALK1-related disorder Supplemental_disease_name DISEASE_NAME:gallbladder_disease_4 Gallbladder disease 4 Supplemental_disease_name DISEASE_NAME:gallbladder_disease_4_sitosterolemia Gallbladder disease 4;Sitosterolemia Supplemental_disease_name DISEASE_NAME:gallbladder_disease_4_sitosterolemia_1 Gallbladder disease 4;Sitosterolemia 1 Supplemental_disease_name DISEASE_NAME:galloway_mowat_syndrome_2_x_linked Galloway-Mowat syndrome 2, X-linked Supplemental_disease_name DISEASE_NAME:galloway_mowat_syndrome_6_microcephaly_growth_deficiency_seizures_and_brain_malformations Galloway-Mowat syndrome 6;Microcephaly, growth deficiency, seizures, and brain malformations Supplemental_disease_name DISEASE_NAME:galloway_mowat_syndrome_8_nephrotic_syndrome_type_18 Galloway-Mowat syndrome 8;Nephrotic syndrome, type 18 Supplemental_disease_name DISEASE_NAME:galloway_mowat_syndrome_focal_and_segmental_glomerulosclerosis Galloway-Mowat syndrome;focal and segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:gallstones Gallstones Supplemental_disease_name DISEASE_NAME:galm_related_disorder GALM-related disorder Supplemental_disease_name DISEASE_NAME:galns_related_disorder GALNS-related disorder Supplemental_disease_name DISEASE_NAME:galnt10_related_disorder GALNT10-related disorder Supplemental_disease_name DISEASE_NAME:galnt11_related_disorder GALNT11-related disorder Supplemental_disease_name DISEASE_NAME:galnt12_related_disorder GALNT12-related disorder Supplemental_disease_name DISEASE_NAME:galnt14_related_disorder GALNT14-related disorder Supplemental_disease_name DISEASE_NAME:galnt2_related_disorder GALNT2-related disorder Supplemental_disease_name DISEASE_NAME:galnt3_related_disorder GALNT3-related disorder Supplemental_disease_name DISEASE_NAME:galnt9_related_disorder GALNT9-related disorder Supplemental_disease_name DISEASE_NAME:galntl5_related_disorder GALNTL5-related disorder Supplemental_disease_name DISEASE_NAME:galr1_related_disorder GALR1-related disorder Supplemental_disease_name DISEASE_NAME:galt_polymorphism GALT POLYMORPHISM Supplemental_disease_name DISEASE_NAME:galt_polymorphism_duarte_d2 GALT POLYMORPHISM (DUARTE, D2) Supplemental_disease_name DISEASE_NAME:galt_related_disorder GALT-related disorder Supplemental_disease_name DISEASE_NAME:gamma_glutamyltransferase_deficiency gamma-Glutamyltransferase deficiency Supplemental_disease_name DISEASE_NAME:gamt_related_disorder GAMT-related disorder Supplemental_disease_name DISEASE_NAME:gan_related_disorder GAN-related disorder Supplemental_disease_name DISEASE_NAME:ganab_related_disorder GANAB-related disorder Supplemental_disease_name DISEASE_NAME:gapvd1_related_disorder GAPVD1-related disorder Supplemental_disease_name DISEASE_NAME:gapvd1_related_nephrotic_syndrome GAPVD1-related Nephrotic syndrome Supplemental_disease_name DISEASE_NAME:gar1_related_disorder GAR1-related disorder Supplemental_disease_name DISEASE_NAME:gardner_syndrome Gardner syndrome Supplemental_disease_name DISEASE_NAME:gardner_syndrome_apc_related_attenuated_familial_adenomatous_polyposis Gardner syndrome;APC-related attenuated familial adenomatous polyposis Supplemental_disease_name DISEASE_NAME:garg_mishra_progeroid_syndrome Garg-Mishra progeroid syndrome Supplemental_disease_name DISEASE_NAME:gars1_related_disorder GARS1-related disorder Supplemental_disease_name DISEASE_NAME:gars1_related_neuropathies GARS1-related neuropathies Supplemental_disease_name DISEASE_NAME:gars_associated_axonal_neuropathy GARS-Associated Axonal Neuropathy Supplemental_disease_name DISEASE_NAME:gars_associated_axonal_neuropathy_neuronopathy_distal_hereditary_motor_type_5a_charcot_marie_tooth_disease_type_2d GARS-Associated Axonal Neuropathy;Neuronopathy, distal hereditary motor, type 5A;Charcot-Marie-Tooth disease type 2D Supplemental_disease_name DISEASE_NAME:gars_associated_growth_retardation_and_developmental_delay GARS-associated growth retardation and developmental delay Supplemental_disease_name DISEASE_NAME:gas1_related_disorder GAS1-related disorder Supplemental_disease_name DISEASE_NAME:gas2l2_related_disorder GAS2L2-related disorder Supplemental_disease_name DISEASE_NAME:gas8_related_disorder GAS8-related disorder Supplemental_disease_name DISEASE_NAME:gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach Gastric adenocarcinoma and proximal polyposis of the stomach Supplemental_disease_name DISEASE_NAME:gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach_apc_related_attenuated_familial_adenomatous_polyposis_familial_adenomatous_polyposis_1 Gastric adenocarcinoma and proximal polyposis of the stomach;APC-related attenuated familial adenomatous polyposis;Familial adenomatous polyposis 1 Supplemental_disease_name DISEASE_NAME:gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach_attenuated_familial_adenomatous_polyposis_familial_adenomatous_polyposis_1 Gastric adenocarcinoma and proximal polyposis of the stomach;Attenuated familial adenomatous polyposis;Familial adenomatous polyposis 1 Supplemental_disease_name DISEASE_NAME:gastric_cancer_desmoid_disease_hereditary_familial_adenomatous_polyposis_1_colorectal_cancer Gastric cancer;Desmoid disease, hereditary;Familial adenomatous polyposis 1;Colorectal cancer Supplemental_disease_name DISEASE_NAME:gastric_cancer_familial_adenomatous_polyposis_2 Gastric cancer;Familial adenomatous polyposis 2 Supplemental_disease_name DISEASE_NAME:gastric_cancer_susceptibility_after_h_pylori_infection Gastric cancer susceptibility after h. pylori infection Supplemental_disease_name DISEASE_NAME:gastroesophageal_reflux_tracheomalacia_autistic_behavior_atrial_septal_defect Gastroesophageal reflux;Tracheomalacia;Autistic behavior;Atrial septal defect Supplemental_disease_name DISEASE_NAME:gastrointestinal_defect_and_immunodeficiency_syndrome Gastrointestinal defect and immunodeficiency syndrome Supplemental_disease_name DISEASE_NAME:gastrointestinal_defects_and_immunodeficiency_syndrome_1 Gastrointestinal defects and immunodeficiency syndrome 1 Supplemental_disease_name DISEASE_NAME:gastrointestinal_defects_and_immunodeficiency_syndrome_2 Gastrointestinal defects and immunodeficiency syndrome 2 Supplemental_disease_name DISEASE_NAME:gastrointestinal_defects_and_immunodeficiency_syndrome_2_spastic_paraplegia_84_autosomal_recessive_polymicrogyria_perisylvian_with_cerebellar_hypoplasia_and_arthrogryposis Gastrointestinal defects and immunodeficiency syndrome 2;Spastic paraplegia 84, autosomal recessive;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Supplemental_disease_name DISEASE_NAME:gastrointestinal_hemorrhage Gastrointestinal hemorrhage Supplemental_disease_name DISEASE_NAME:gastrointestinal_obstruction_polyhydramnios_hydrops_fetalis Gastrointestinal obstruction;Polyhydramnios;Hydrops fetalis Supplemental_disease_name DISEASE_NAME:gastrointestinal_polyposis Gastrointestinal polyposis Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_acute_myeloid_leukemia_germ_cell_tumor_of_testis_piebaldism_cutaneous_mastocytosis Gastrointestinal stromal tumor;Acute myeloid leukemia;Germ cell tumor of testis;Piebaldism;Cutaneous mastocytosis Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_3 Gastrointestinal stromal tumor;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 3 Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4_mitochondrial_complex_2_deficiency_nuclear_type_4 Gastrointestinal stromal tumor;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Mitochondrial complex 2 deficiency, nuclear type 4 Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_cowden_syndrome_1_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4_pheochromocytoma Gastrointestinal stromal tumor;Cowden syndrome 1;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_cutaneous_mastocytosis_acute_myeloid_leukemia_germ_cell_tumor_of_testis_piebaldism Gastrointestinal stromal tumor;Cutaneous mastocytosis;Acute myeloid leukemia;Germ cell tumor of testis;Piebaldism Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_cutaneous_mastocytosis_germ_cell_tumor_of_testis_acute_myeloid_leukemia_piebaldism Gastrointestinal stromal tumor;Cutaneous mastocytosis;Germ cell tumor of testis;Acute myeloid leukemia;Piebaldism Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_cutaneous_mastocytosis_piebaldism_germ_cell_tumor_of_testis_acute_myeloid_leukemia Gastrointestinal stromal tumor;Cutaneous mastocytosis;Piebaldism;Germ cell tumor of testis;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_familial Gastrointestinal stromal tumor, familial Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_germ_cell_tumor_of_testis_acute_myeloid_leukemia_piebaldism_cutaneous_mastocytosis Gastrointestinal stromal tumor;Germ cell tumor of testis;Acute myeloid leukemia;Piebaldism;Cutaneous mastocytosis Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_hereditary_pheochromocytoma_and_paraganglioma Gastrointestinal stromal tumor;Hereditary pheochromocytoma and paraganglioma Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_idiopathic_hypereosinophilic_syndrome Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_malignant_tumor_of_testis_mastocytosis_acute_myeloid_leukemia_piebaldism Gastrointestinal stromal tumor;Malignant tumor of testis;Mastocytosis;Acute myeloid leukemia;Piebaldism Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_mastocytosis Gastrointestinal stromal tumor;Mastocytosis Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_mitochondrial_complex_2_deficiency_nuclear_type_4_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4 Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4 Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_mitochondrial_complex_2_deficiency_nuclear_type_4_pheochromocytoma_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4 Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Pheochromocytoma;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4 Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5_hereditary_pheochromocytoma_and_paraganglioma Gastrointestinal stromal tumor;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5;Hereditary pheochromocytoma and paraganglioma Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_of_small_intestine Gastrointestinal stromal tumor of small intestine Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_pheochromocytoma_paraganglioma_syndrome_3 Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3 Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_pheochromocytoma_paraganglioma_syndrome_3_carney_stratakis_syndrome Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_pheochromocytoma_paraganglioma_syndrome_4_pheochromocytoma Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_4 Gastrointestinal stromal tumor;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4 Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_piebaldism Gastrointestinal stromal tumor;Piebaldism Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_piebaldism_acute_myeloid_leukemia_germ_cell_tumor_of_testis_cutaneous_mastocytosis Gastrointestinal stromal tumor;Piebaldism;Acute myeloid leukemia;Germ cell tumor of testis;Cutaneous mastocytosis Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_piebaldism_acute_myeloid_leukemia_mastocytosis_malignant_tumor_of_testis Gastrointestinal stromal tumor;Piebaldism;Acute myeloid leukemia;Mastocytosis;Malignant tumor of testis Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_piebaldism_cutaneous_mastocytosis_acute_myeloid_leukemia_germ_cell_tumor_of_testis Gastrointestinal stromal tumor;Piebaldism;Cutaneous mastocytosis;Acute myeloid leukemia;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_piebaldism_germ_cell_tumor_of_testis_acute_myeloid_leukemia_cutaneous_mastocytosis Gastrointestinal stromal tumor;Piebaldism;Germ cell tumor of testis;Acute myeloid leukemia;Cutaneous mastocytosis Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_piebaldism_mastocytosis Gastrointestinal stromal tumor;Piebaldism;Mastocytosis Supplemental_disease_name DISEASE_NAME:gata1_related_disorder GATA1-related disorder Supplemental_disease_name DISEASE_NAME:gata2_deficiency_with_susceptibility_to_mds_aml GATA2 deficiency with susceptibility to MDS/AML Supplemental_disease_name DISEASE_NAME:gata2_deficiency_with_susceptibility_to_mds_aml_deafness_lymphedema_leukemia_syndrome GATA2 deficiency with susceptibility to MDS/AML;Deafness-lymphedema-leukemia syndrome Supplemental_disease_name DISEASE_NAME:gata2_related_disorder GATA2-related disorder Supplemental_disease_name DISEASE_NAME:gata3_related_disorder GATA3-related disorder Supplemental_disease_name DISEASE_NAME:gata4_related_dilated_cardiomyopathy GATA4-related dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:gata4_related_disorder GATA4-related disorder Supplemental_disease_name DISEASE_NAME:gata5_related_disorder GATA5-related disorder Supplemental_disease_name DISEASE_NAME:gata6_related_congenital_heart_disease_with_or_without_pancreatic_agenesis_or_neonatal_diabetes GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes Supplemental_disease_name DISEASE_NAME:gata6_related_disorder GATA6-related disorder Supplemental_disease_name DISEASE_NAME:gata_binding_protein_1_related_thrombocytopenia_with_dyserythropoiesis GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Supplemental_disease_name DISEASE_NAME:gata_binding_protein_1_related_thrombocytopenia_with_dyserythropoiesis_diamond_blackfan_anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis;Diamond-Blackfan anemia Supplemental_disease_name DISEASE_NAME:gatad1_related_disorder GATAD1-related disorder Supplemental_disease_name DISEASE_NAME:gatad2a_associated_neurodevelopmental_disorder GATAD2A-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:gatad2a_related_disorder GATAD2A-related disorder Supplemental_disease_name DISEASE_NAME:gatad2b_related_disorder GATAD2B-related disorder Supplemental_disease_name DISEASE_NAME:gatad2b_related_intellectual_disability_syndrome GATAD2B-related intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:gatad2b_related_neurodevelopmental_disorder GATAD2B-Related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:gatb_related_disorder GATB-related disorder Supplemental_disease_name DISEASE_NAME:gatm_related_disorder GATM-related disorder Supplemental_disease_name DISEASE_NAME:gaucher_disease_due_to_saposin_c_deficiency Gaucher disease due to saposin C deficiency Supplemental_disease_name DISEASE_NAME:gaucher_disease_due_to_saposin_c_deficiency_combined_psap_deficiency_krabbe_disease_due_to_saposin_a_deficiency_sphingolipid_activator_protein_1_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to Gaucher disease due to saposin C deficiency;Combined PSAP deficiency;Krabbe disease due to saposin A deficiency;Sphingolipid activator protein 1 deficiency;Parkinson disease 24, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:gaucher_disease_due_to_saposin_c_deficiency_sphingolipid_activator_protein_1_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to_combined_psap_deficiency_krabbe_disease_due_to_saposin_a_deficiency Gaucher disease due to saposin C deficiency;Sphingolipid activator protein 1 deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Combined PSAP deficiency;Krabbe disease due to saposin A deficiency Supplemental_disease_name DISEASE_NAME:gaucher_disease_ophthalmoplegia_cardiovascular_calcification_syndrome_gaucher_disease_type_i_gaucher_disease_type_ii_gaucher_disease_type_iii Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome;Gaucher disease type I;Gaucher disease type II;Gaucher disease type III Supplemental_disease_name DISEASE_NAME:gaucher_disease_ophthalmoplegia_cardiovascular_calcification_syndrome_gaucher_disease_type_iii_gaucher_disease_type_i_gaucher_disease_type_ii Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome;Gaucher disease type III;Gaucher disease type I;Gaucher disease type II Supplemental_disease_name DISEASE_NAME:gaucher_disease_perinatal_lethal Gaucher disease perinatal lethal Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_i Gaucher disease type I Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_i_gaucher_disease_type_ii_gaucher_disease_ophthalmoplegia_cardiovascular_calcification_syndrome_gaucher_disease_type_iii Gaucher disease type I;Gaucher disease type II;Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome;Gaucher disease type III Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_i_gaucher_disease_type_ii_gaucher_disease_type_iii Gaucher disease type I;Gaucher disease type II;Gaucher disease type III Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_i_gaucher_disease_type_ii_gaucher_disease_type_iii_gaucher_disease_ophthalmoplegia_cardiovascular_calcification_syndrome Gaucher disease type I;Gaucher disease type II;Gaucher disease type III;Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_i_gaucher_disease_type_ii_gaucher_disease_type_iii_gaucher_disease_ophthalmoplegia_cardiovascular_calcification_syndrome_gaucher_disease_perinatal_lethal Gaucher disease type I;Gaucher disease type II;Gaucher disease type III;Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome;Gaucher disease perinatal lethal Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_ii Gaucher disease type II Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_iii Gaucher disease type III Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_iii_gaucher_disease_ophthalmoplegia_cardiovascular_calcification_syndrome_gaucher_disease_perinatal_lethal_gaucher_disease_type_i_gaucher_disease_type_ii Gaucher disease type III;Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome;Gaucher disease perinatal lethal;Gaucher disease type I;Gaucher disease type II Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_iii_gaucher_disease_ophthalmoplegia_cardiovascular_calcification_syndrome_gaucher_disease_type_i_gaucher_disease_type_ii_gaucher_disease_perinatal_lethal Gaucher disease type III;Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome;Gaucher disease type I;Gaucher disease type II;Gaucher disease perinatal lethal Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_iii_gaucher_disease_type_i_gaucher_disease_type_ii_gaucher_disease_ophthalmoplegia_cardiovascular_calcification_syndrome Gaucher disease type III;Gaucher disease type I;Gaucher disease type II;Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Supplemental_disease_name DISEASE_NAME:gaze_palsy Gaze palsy Supplemental_disease_name DISEASE_NAME:gaze_palsy_familial_horizontal_with_progressive_scoliosis_1 Gaze palsy, familial horizontal, with progressive scoliosis 1 Supplemental_disease_name DISEASE_NAME:gaze_palsy_familial_horizontal_with_progressive_scoliosis_2 Gaze palsy, familial horizontal, with progressive scoliosis, 2 Supplemental_disease_name DISEASE_NAME:gba1_related_disorder GBA1-related disorder Supplemental_disease_name DISEASE_NAME:gba1_related_disorders GBA1-related disorders Supplemental_disease_name DISEASE_NAME:gba2_related_disorder GBA2-related disorder Supplemental_disease_name DISEASE_NAME:gba_related_disorder GBA-related disorder Supplemental_disease_name DISEASE_NAME:gbe1_related_disorder GBE1-related disorder Supplemental_disease_name DISEASE_NAME:gbf1_related_disorder GBF1-related disorder Supplemental_disease_name DISEASE_NAME:gc1_gc2_polymorphism GC1/GC2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:gcc2_related_disorder GCC2-related disorder Supplemental_disease_name DISEASE_NAME:gcdh_related_disorder GCDH-related disorder Supplemental_disease_name DISEASE_NAME:gcgr_related_disorder GCGR-related disorder Supplemental_disease_name DISEASE_NAME:gch1_related_disorder GCH1-related disorder Supplemental_disease_name DISEASE_NAME:gck_related_disorder GCK-related disorder Supplemental_disease_name DISEASE_NAME:gckr_related_disorder GCKR-related disorder Supplemental_disease_name DISEASE_NAME:gclc_related_disorder GCLC-related disorder Supplemental_disease_name DISEASE_NAME:gcm2_related_disorder GCM2-related disorder Supplemental_disease_name DISEASE_NAME:gcnt2_related_disorder GCNT2-related disorder Supplemental_disease_name DISEASE_NAME:gcsh_related_disorder GCSH-related disorder Supplemental_disease_name DISEASE_NAME:gdap1_related_disorder GDAP1-related disorder Supplemental_disease_name DISEASE_NAME:gdap2_related_disorder GDAP2-related disorder Supplemental_disease_name DISEASE_NAME:gdf11_associated_multiple_congenital_anomalies_and_id GDF11-associated multiple congenital anomalies and ID Supplemental_disease_name DISEASE_NAME:gdf11_related_disorder GDF11-related disorder Supplemental_disease_name DISEASE_NAME:gdf1_related_disorder GDF1-related disorder Supplemental_disease_name DISEASE_NAME:gdf1_related_disorders GDF1-RELATED DISORDERS Supplemental_disease_name DISEASE_NAME:gdf2_related_disorder GDF2-related disorder Supplemental_disease_name DISEASE_NAME:gdf2_related_vasculopathy GDF2-related vasculopathy Supplemental_disease_name DISEASE_NAME:gdf3_related_disorder GDF3-related disorder Supplemental_disease_name DISEASE_NAME:gdf5_related_disorder GDF5-related disorder Supplemental_disease_name DISEASE_NAME:gdf5os_related_condition GDF5OS-related condition Supplemental_disease_name DISEASE_NAME:gdf6_related_disorder GDF6-related disorder Supplemental_disease_name DISEASE_NAME:gdf9_related_disorder GDF9-related disorder Supplemental_disease_name DISEASE_NAME:gdi1_related_disorder GDI1-related disorder Supplemental_disease_name DISEASE_NAME:gdnf_related_disorder GDNF-related disorder Supplemental_disease_name DISEASE_NAME:gefitinib_response_efficacy gefitinib response - Efficacy Supplemental_disease_name DISEASE_NAME:gelatinous_droplike_corneal_dystrophy Gelatinous droplike corneal dystrophy Supplemental_disease_name DISEASE_NAME:geleophysic_dysplasia_2_ectopia_lentis_1_isolated_autosomal_dominant_stiff_skin_syndrome_familial_thoracic_aortic_aneurysm_and_aortic_dissection Geleophysic dysplasia 2;Ectopia lentis 1, isolated, autosomal dominant;Stiff skin syndrome;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:geleophysic_dysplasia_3_brachyolmia_amelogenesis_imperfecta_syndrome Geleophysic dysplasia 3;Brachyolmia-amelogenesis imperfecta syndrome Supplemental_disease_name DISEASE_NAME:gemcitabine_response Gemcitabine response Supplemental_disease_name DISEASE_NAME:gemin4_related_disorder GEMIN4-related disorder Supplemental_disease_name DISEASE_NAME:gemin5_related_disorder GEMIN5-related disorder Supplemental_disease_name DISEASE_NAME:gemin5_related_neurodevelopmental_disorder GEMIN5-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:gen1_related_disorder GEN1-related disorder Supplemental_disease_name DISEASE_NAME:gen1_related_prostate_cancer GEN1-related prostate cancer Supplemental_disease_name DISEASE_NAME:generalized_cerebral_atrophy_hypoplasia Generalized cerebral atrophy/hypoplasia Supplemental_disease_name DISEASE_NAME:generalized_choriocapillaris_dystrophy Generalized choriocapillaris dystrophy Supplemental_disease_name DISEASE_NAME:generalized_dominant_dystrophic_epidermolysis_bullosa Generalized dominant dystrophic epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:generalized_dominant_dystrophic_epidermolysis_bullosa_recessive_dystrophic_epidermolysis_bullosa Generalized dominant dystrophic epidermolysis bullosa;Recessive dystrophic epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:generalized_dystonia_dysarthria Generalized dystonia;Dysarthria Supplemental_disease_name DISEASE_NAME:generalized_dystonia_dystonic_disorder Generalized dystonia;Dystonic disorder Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_febrile_seizure_within_the_age_range_of_3_months_to_6_years Generalized epilepsy;Febrile seizure (within the age range of 3 months to 6 years) Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_global_developmental_delay_obesity Generalized epilepsy;Global developmental delay;Obesity Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_obesity_global_developmental_delay Generalized epilepsy;Obesity;Global developmental delay Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_paroxysmal_dyskinesia_syndrome Generalized epilepsy-paroxysmal dyskinesia syndrome Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_paroxysmal_dyskinesia_syndrome_cerebellar_atrophy_developmental_delay_and_seizures Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_paroxysmal_dyskinesia_syndrome_cerebellar_atrophy_developmental_delay_and_seizures_epilepsy_idiopathic_generalized_susceptibility_to_16_liang_wang_syndrome Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures;Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_paroxysmal_dyskinesia_syndrome_cerebellar_atrophy_developmental_delay_and_seizures_liang_wang_syndrome Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures;Liang-Wang syndrome Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_paroxysmal_dyskinesia_syndrome_cerebellar_atrophy_developmental_delay_and_seizures_liang_wang_syndrome_epilepsy_idiopathic_generalized_susceptibility_to_16 Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures;Liang-Wang syndrome;Epilepsy, idiopathic generalized, susceptibility to, 16 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_paroxysmal_dyskinesia_syndrome_epilepsy_idiopathic_generalized_susceptibility_to_16_liang_wang_syndrome Generalized epilepsy-paroxysmal dyskinesia syndrome;Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_paroxysmal_dyskinesia_syndrome_infantile_epileptic_dyskinetic_encephalopathy Generalized epilepsy-paroxysmal dyskinesia syndrome;Infantile epileptic dyskinetic encephalopathy Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_3 Generalized epilepsy with febrile seizures plus 3 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_3_febrile_seizures_familial_8_developmental_and_epileptic_encephalopathy_74 Generalized epilepsy with febrile seizures plus 3;Febrile seizures, familial, 8;Developmental and epileptic encephalopathy, 74 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_primary_erythromelalgia_neuropathy_hereditary_sensory_and_autonomic_type_2a_paroxysmal_extreme_pain_disorder_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive Generalized epilepsy with febrile seizures plus;Primary erythromelalgia;Neuropathy, hereditary sensory and autonomic, type 2A;Paroxysmal extreme pain disorder;Channelopathy-associated congenital insensitivity to pain, autosomal recessive Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_10_developmental_and_epileptic_encephalopathy_24 Generalized epilepsy with febrile seizures plus, type 10;Developmental and epileptic encephalopathy, 24 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_12 Generalized epilepsy with febrile seizures plus, type 12 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_1_atrial_fibrillation_familial_13_brugada_syndrome_5_developmental_and_epileptic_encephalopathy_52 Generalized epilepsy with febrile seizures plus, type 1;Atrial fibrillation, familial, 13;Brugada syndrome 5;Developmental and epileptic encephalopathy, 52 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_1_atrial_fibrillation_familial_13_developmental_and_epileptic_encephalopathy_52_brugada_syndrome_5 Generalized epilepsy with febrile seizures plus, type 1;Atrial fibrillation, familial, 13;Developmental and epileptic encephalopathy, 52;Brugada syndrome 5 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_1_brugada_syndrome_5_atrial_fibrillation_familial_13_developmental_and_epileptic_encephalopathy_52 Generalized epilepsy with febrile seizures plus, type 1;Brugada syndrome 5;Atrial fibrillation, familial, 13;Developmental and epileptic encephalopathy, 52 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_1_brugada_syndrome_5_developmental_and_epileptic_encephalopathy_52_atrial_fibrillation_familial_13 Generalized epilepsy with febrile seizures plus, type 1;Brugada syndrome 5;Developmental and epileptic encephalopathy, 52;Atrial fibrillation, familial, 13 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_1_developmental_and_epileptic_encephalopathy_1_brugada_syndrome_5_atrial_fibrillation_familial_1 Generalized epilepsy with febrile seizures plus, type 1;Developmental and epileptic encephalopathy, 1;Brugada syndrome 5;Atrial fibrillation, familial, 1 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_1_developmental_and_epileptic_encephalopathy_52_atrial_fibrillation_familial_13_brugada_syndrome_5 Generalized epilepsy with febrile seizures plus, type 1;Developmental and epileptic encephalopathy, 52;Atrial fibrillation, familial, 13;Brugada syndrome 5 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_1_developmental_and_epileptic_encephalopathy_52_brugada_syndrome_5_atrial_fibrillation_familial_13 Generalized epilepsy with febrile seizures plus, type 1;Developmental and epileptic encephalopathy, 52;Brugada syndrome 5;Atrial fibrillation, familial, 13 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_developmental_and_epileptic_encephalopathy_6b_migraine_familial_hemiplegic_3_severe_myoclonic_epilepsy_in_infancy Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_developmental_and_epileptic_encephalopathy_6b_severe_myoclonic_epilepsy_in_infancy Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_developmental_and_epileptic_encephalopathy_6b_severe_myoclonic_epilepsy_in_infancy_migraine_familial_hemiplegic_3 Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy;Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3 Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3_developmental_and_epileptic_encephalopathy_6b_severe_myoclonic_epilepsy_in_infancy Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3_severe_myoclonic_epilepsy_in_infancy Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3_severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b_migraine_familial_hemiplegic_3 Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy_migraine_familial_hemiplegic_3 Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy_migraine_familial_hemiplegic_3_developmental_and_epileptic_encephalopathy_6b Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_5 Generalized epilepsy with febrile seizures plus type 5 Supplemental_disease_name DISEASE_NAME:generalized_epilepsy_with_febrile_seizures_plus_type_7_neuropathy_hereditary_sensory_and_autonomic_type_2a Generalized epilepsy with febrile seizures plus, type 7;Neuropathy, hereditary sensory and autonomic, type 2A Supplemental_disease_name DISEASE_NAME:generalized_hyperreflexia_difficulty_walking_gait_disturbance_spastic_paraparesis Generalized hyperreflexia;Difficulty walking;Gait disturbance;Spastic paraparesis Supplemental_disease_name DISEASE_NAME:generalized_hypopigmentation_basal_cell_carcinoma Generalized hypopigmentation;Basal cell carcinoma Supplemental_disease_name DISEASE_NAME:generalized_hypotonia Generalized hypotonia Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_apnea_limb_dystonia Generalized hypotonia;Apnea;Limb dystonia Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_broad_based_gait_developmental_regression_neurogenic_bladder_renal_tubular_dysgenesis Generalized hypotonia;Broad-based gait;Developmental regression;Neurogenic bladder;Renal tubular dysgenesis Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_cerebellar_vermis_hypoplasia_iris_coloboma_nystagmus Generalized hypotonia;Cerebellar vermis hypoplasia;Iris coloboma;Nystagmus Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_gastrostomy_tube_feeding_in_infancy_decreased_activity_of_mitochondrial_complex_i_global_developmental_delay_absent_speech Generalized hypotonia;Gastrostomy tube feeding in infancy;Decreased activity of mitochondrial complex I;Global developmental delay;Absent speech Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_low_set_ears_hemangioma Generalized hypotonia;Low-set ears;Hemangioma Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_macrocephaly_global_developmental_delay_cryptorchidism Generalized hypotonia;Macrocephaly;Global developmental delay;Cryptorchidism Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_metatarsus_adductus_global_developmental_delay Generalized hypotonia;Metatarsus adductus;Global developmental delay Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_preauricular_skin_tag_global_developmental_delay_stereotypic_movement_disorder_delayed_speech_and_language_development Generalized hypotonia;Preauricular skin tag;Global developmental delay;Stereotypic movement disorder;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_seizure Generalized hypotonia;Seizure Supplemental_disease_name DISEASE_NAME:generalized_hypotonia_strabismus_global_developmental_delay Generalized hypotonia;Strabismus;Global developmental delay Supplemental_disease_name DISEASE_NAME:generalized_juvenile_polyposis_juvenile_polyposis_coli Generalized juvenile polyposis/juvenile polyposis coli Supplemental_disease_name DISEASE_NAME:generalized_juvenile_polyposis_juvenile_polyposis_coli_hereditary_hemorrhagic_telangiectasia Generalized juvenile polyposis/juvenile polyposis coli;Hereditary hemorrhagic telangiectasia Supplemental_disease_name DISEASE_NAME:generalized_juvenile_polyposis_juvenile_polyposis_coli_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_carcinoma_of_pancreas_myhre_syndrome Generalized juvenile polyposis/juvenile polyposis coli;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Carcinoma of pancreas;Myhre syndrome Supplemental_disease_name DISEASE_NAME:generalized_juvenile_polyposis_juvenile_polyposis_coli_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_myhre_syndrome Generalized juvenile polyposis/juvenile polyposis coli;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome Supplemental_disease_name DISEASE_NAME:generalized_juvenile_polyposis_juvenile_polyposis_coli_polyposis_syndrome_hereditary_mixed_2 Generalized juvenile polyposis/juvenile polyposis coli;Polyposis syndrome, hereditary mixed, 2 Supplemental_disease_name DISEASE_NAME:generalized_muscle_weakness Generalized muscle weakness Supplemental_disease_name DISEASE_NAME:generalized_myoclonic_seizure Generalized myoclonic seizure Supplemental_disease_name DISEASE_NAME:generalized_non_motor_absence_seizure Generalized non-motor (absence) seizure Supplemental_disease_name DISEASE_NAME:generalized_non_motor_absence_seizure_abnormal_brainstem_mri_signal_intensity Generalized non-motor (absence) seizure;Abnormal brainstem MRI signal intensity Supplemental_disease_name DISEASE_NAME:generalized_non_motor_absence_seizure_delayed_speech_and_language_development_autistic_behavior Generalized non-motor (absence) seizure;Delayed speech and language development;Autistic behavior Supplemental_disease_name DISEASE_NAME:generalized_onset_seizure Generalized-onset seizure Supplemental_disease_name DISEASE_NAME:generalized_onset_seizure_epileptic_encephalopathy Generalized-onset seizure;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:generalized_pustular_psoriasis Generalized pustular psoriasis Supplemental_disease_name DISEASE_NAME:generalized_resistance_to_thyroid_hormone Generalized resistance to thyroid hormone Supplemental_disease_name DISEASE_NAME:genetic_developmental_and_epileptic_encephalopathy Genetic developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:genetic_hearing_loss Genetic hearing loss Supplemental_disease_name DISEASE_NAME:genetic_non_acquired_premature_ovarian_failure Genetic non-acquired premature ovarian failure Supplemental_disease_name DISEASE_NAME:genetic_syndrome_with_a_dandy_walker_malformation_as_major_feature_phace_syndrome_tethered_cord Genetic syndrome with a Dandy-Walker malformation as major feature;PHACE syndrome;Tethered cord Supplemental_disease_name DISEASE_NAME:genetic_syndrome_with_a_dandy_walker_malformation_as_major_feature_ventriculomegaly_luscan_lumish_syndrome Genetic syndrome with a Dandy-Walker malformation as major feature;Ventriculomegaly;Luscan-Lumish syndrome Supplemental_disease_name DISEASE_NAME:genitopatellar_syndrome Genitopatellar syndrome Supplemental_disease_name DISEASE_NAME:genitopatellar_syndrome_blepharophimosis_intellectual_disability_syndrome_sbbys_type Genitopatellar syndrome;Blepharophimosis - intellectual disability syndrome, SBBYS type Supplemental_disease_name DISEASE_NAME:genitopatellar_syndrome_epilepsy_familial_temporal_lobe_1 Genitopatellar syndrome;Epilepsy, familial temporal lobe, 1 Supplemental_disease_name DISEASE_NAME:genitourinary_and_or_brain_malformation_syndrome Genitourinary and/or brain malformation syndrome Supplemental_disease_name DISEASE_NAME:gentamicin_response Gentamicin response Supplemental_disease_name DISEASE_NAME:gentamicin_response_toxicity gentamicin response - Toxicity Supplemental_disease_name DISEASE_NAME:genu_varum_short_stature_skeletal_dysplasia_craniosynostosis_syndrome Genu varum;Short stature;Skeletal dysplasia;Craniosynostosis syndrome Supplemental_disease_name DISEASE_NAME:germ_cell_tumor Germ cell tumor Supplemental_disease_name DISEASE_NAME:germ_cell_tumor_of_testis_carcinoma_of_pancreas_peutz_jeghers_syndrome_melanoma_cutaneous_malignant_susceptibility_to_1 Germ cell tumor of testis;Carcinoma of pancreas;Peutz-Jeghers syndrome;Melanoma, cutaneous malignant, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:germ_cell_tumor_of_testis_cutaneous_mastocytosis_gastrointestinal_stromal_tumor_piebaldism_acute_myeloid_leukemia Germ cell tumor of testis;Cutaneous mastocytosis;Gastrointestinal stromal tumor;Piebaldism;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:germ_cell_tumor_of_testis_melanoma_cutaneous_malignant_susceptibility_to_1_carcinoma_of_pancreas_peutz_jeghers_syndrome Germ cell tumor of testis;Melanoma, cutaneous malignant, susceptibility to, 1;Carcinoma of pancreas;Peutz-Jeghers syndrome Supplemental_disease_name DISEASE_NAME:germ_cell_tumor_of_testis_melanoma_cutaneous_malignant_susceptibility_to_1_familial_pancreatic_carcinoma_peutz_jeghers_syndrome Germ cell tumor of testis;Melanoma, cutaneous malignant, susceptibility to, 1;Familial pancreatic carcinoma;Peutz-Jeghers syndrome Supplemental_disease_name DISEASE_NAME:germ_cell_tumor_of_testis_peutz_jeghers_syndrome_familial_pancreatic_carcinoma_melanoma_cutaneous_malignant_susceptibility_to_1 Germ cell tumor of testis;Peutz-Jeghers syndrome;Familial pancreatic carcinoma;Melanoma, cutaneous malignant, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:germ_cell_tumor_of_testis_peutz_jeghers_syndrome_melanoma_cutaneous_malignant_susceptibility_to_1_familial_pancreatic_carcinoma Germ cell tumor of testis;Peutz-Jeghers syndrome;Melanoma, cutaneous malignant, susceptibility to, 1;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:germ_cell_tumor_of_testis_piebaldism_cutaneous_mastocytosis_acute_myeloid_leukemia_gastrointestinal_stromal_tumor Germ cell tumor of testis;Piebaldism;Cutaneous mastocytosis;Acute myeloid leukemia;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:germ_cell_tumor_of_the_testis germ cell tumor of the testis Supplemental_disease_name DISEASE_NAME:germinomatous_germ_cell_tumor Germinomatous germ cell tumor Supplemental_disease_name DISEASE_NAME:gestational_diabetes_mellitus_uncontrolled Gestational diabetes mellitus uncontrolled Supplemental_disease_name DISEASE_NAME:get4_deficiency GET4 deficiency Supplemental_disease_name DISEASE_NAME:get4_related_disorder GET4-related disorder Supplemental_disease_name DISEASE_NAME:gfap_related_disorder GFAP-related disorder Supplemental_disease_name DISEASE_NAME:gfer_related_disorder GFER-related disorder Supplemental_disease_name DISEASE_NAME:gfi1_related_disorder GFI1-related disorder Supplemental_disease_name DISEASE_NAME:gfi1b_related_disorder GFI1B-related disorder Supplemental_disease_name DISEASE_NAME:gfm1_related_disorder GFM1-related disorder Supplemental_disease_name DISEASE_NAME:gfm2_related_disorder GFM2-related disorder Supplemental_disease_name DISEASE_NAME:gfpt1_related_disorder GFPT1-related disorder Supplemental_disease_name DISEASE_NAME:gfpt1_related_myasthenic_syndrome GFPT1-related myasthenic syndrome Supplemental_disease_name DISEASE_NAME:gfpt1_related_myopathy_with_protein_aggregates_and_rimmed_vacuoles GFPT1-related myopathy with protein aggregates and rimmed vacuoles Supplemental_disease_name DISEASE_NAME:gfpt2_related_disorder GFPT2-related disorder Supplemental_disease_name DISEASE_NAME:gfra1_related_disorder GFRA1-related disorder Supplemental_disease_name DISEASE_NAME:ggcx_related_disorder GGCX-related disorder Supplemental_disease_name DISEASE_NAME:ggn_related_disorder GGN-related disorder Supplemental_disease_name DISEASE_NAME:ggnbp2_related_disorder GGNBP2-related disorder Supplemental_disease_name DISEASE_NAME:gh1_related_disorder GH1-related disorder Supplemental_disease_name DISEASE_NAME:gh_secreting_pituitary_adenoma GH-secreting pituitary adenoma Supplemental_disease_name DISEASE_NAME:ghosal_hematodiaphyseal_dysplasia_thromboxane_synthetase_deficiency Ghosal hematodiaphyseal dysplasia;Thromboxane synthetase deficiency Supplemental_disease_name DISEASE_NAME:ghr_related_disorder GHR-related disorder Supplemental_disease_name DISEASE_NAME:ghrelin_polymorphism GHRELIN POLYMORPHISM Supplemental_disease_name DISEASE_NAME:ghrhr_related_disorder GHRHR-related disorder Supplemental_disease_name DISEASE_NAME:ghsr_related_disorder GHSR-related disorder Supplemental_disease_name DISEASE_NAME:giant_axonal_neuropathy Giant axonal neuropathy Supplemental_disease_name DISEASE_NAME:gigyf1_associated_disorder GIGYF1-associated disorder Supplemental_disease_name DISEASE_NAME:gigyf1_associated_neurodevelopmental_disorder GIGYF1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:gigyf1_related_developmental_disorder Gigyf1-related Developmental Disorder Supplemental_disease_name DISEASE_NAME:gigyf1_related_disorder GIGYF1-related disorder Supplemental_disease_name DISEASE_NAME:gigyf1_related_neurodevelopmental_disorder GIGYF1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:gigyf2_related_disorder GIGYF2-related disorder Supplemental_disease_name DISEASE_NAME:gil_blood_group GIL BLOOD GROUP Supplemental_disease_name DISEASE_NAME:gilbert_syndrome_bilirubin_serum_level_of_quantitative_trait_locus_1_crigler_najjar_syndrome_type_1_crigler_najjar_syndrome_type_ii_lucey_driscoll_syndrome Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Crigler-Najjar syndrome type 1;Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome Supplemental_disease_name DISEASE_NAME:gilbert_syndrome_bilirubin_serum_level_of_quantitative_trait_locus_1_crigler_najjar_syndrome_type_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II Supplemental_disease_name DISEASE_NAME:gilbert_syndrome_crigler_najjar_syndrome_type_1_bilirubin_serum_level_of_quantitative_trait_locus_1_crigler_najjar_syndrome_type_ii_lucey_driscoll_syndrome Gilbert syndrome;Crigler-Najjar syndrome type 1;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome Supplemental_disease_name DISEASE_NAME:gilbert_syndrome_crigler_najjar_syndrome_type_1_crigler_najjar_syndrome_type_ii_lucey_driscoll_syndrome Gilbert syndrome;Crigler-Najjar syndrome type 1;Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome Supplemental_disease_name DISEASE_NAME:gilbert_syndrome_crigler_najjar_syndrome_type_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii Gilbert syndrome;Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II Supplemental_disease_name DISEASE_NAME:gilbert_syndrome_crigler_najjar_syndrome_type_1_lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_bilirubin_serum_level_of_quantitative_trait_locus_1 Gilbert syndrome;Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:gilbert_syndrome_susceptibility_to Gilbert syndrome, susceptibility to Supplemental_disease_name DISEASE_NAME:gillespie_syndrome_spinocerebellar_ataxia_type_15_16_spinocerebellar_ataxia_type_29 Gillespie syndrome;Spinocerebellar ataxia type 15/16;Spinocerebellar ataxia type 29 Supplemental_disease_name DISEASE_NAME:gillespie_syndrome_spinocerebellar_ataxia_type_29_spinocerebellar_ataxia_type_15_16 Gillespie syndrome;Spinocerebellar ataxia type 29;Spinocerebellar ataxia type 15/16 Supplemental_disease_name DISEASE_NAME:gillessen_kaesbach_nishimura_dysplasia Gillessen-Kaesbach-Nishimura dysplasia Supplemental_disease_name DISEASE_NAME:gillessen_kaesbach_nishimura_syndrome Gillessen-Kaesbach-Nishimura syndrome Supplemental_disease_name DISEASE_NAME:gillessen_kaesbach_nishimura_syndrome_alg9_congenital_disorder_of_glycosylation Gillessen-Kaesbach-Nishimura syndrome;ALG9 congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:gingival_disorder Gingival disorder Supplemental_disease_name DISEASE_NAME:gingival_fibromatosis_hypertrichosis_syndrome Gingival fibromatosis-hypertrichosis syndrome Supplemental_disease_name DISEASE_NAME:gingival_overgrowth_generalized_hypertrichosis_abnormal_facial_shape_seizure_intellectual_disability Gingival overgrowth;Generalized hypertrichosis;Abnormal facial shape;Seizure;Intellectual disability Supplemental_disease_name DISEASE_NAME:gins1_related_disorder GINS1-related disorder Supplemental_disease_name DISEASE_NAME:gins3_related_disorder GINS3-related disorder Supplemental_disease_name DISEASE_NAME:gipc1_related_condition GIPC1-related condition Supplemental_disease_name DISEASE_NAME:gipc3_related_disorder GIPC3-related disorder Supplemental_disease_name DISEASE_NAME:gist_plus_syndrome GIST-plus syndrome Supplemental_disease_name DISEASE_NAME:git1_related_disorder GIT1-related disorder Supplemental_disease_name DISEASE_NAME:gja1_related_disorder GJA1-related disorder Supplemental_disease_name DISEASE_NAME:gja3_related_disorder GJA3-related disorder Supplemental_disease_name DISEASE_NAME:gja5_related_disorder GJA5-related disorder Supplemental_disease_name DISEASE_NAME:gja8_related_disorder GJA8-related disorder Supplemental_disease_name DISEASE_NAME:gjb1_related_disorder GJB1-related disorder Supplemental_disease_name DISEASE_NAME:gjb2_related_disorder GJB2-related disorder Supplemental_disease_name DISEASE_NAME:gjb3_related_disorder GJB3-related disorder Supplemental_disease_name DISEASE_NAME:gjb4_related_disorder GJB4-related disorder Supplemental_disease_name DISEASE_NAME:gjb6_related_disorder GJB6-related disorder Supplemental_disease_name DISEASE_NAME:gjc2_related_disorder GJC2-related disorder Supplemental_disease_name DISEASE_NAME:gjc3_related_disorder GJC3-related disorder Supplemental_disease_name DISEASE_NAME:gk_related_disorder GK-related disorder Supplemental_disease_name DISEASE_NAME:gla_related_disorder GLA-related disorder Supplemental_disease_name DISEASE_NAME:glanzmann_thrombasthenia_1 Glanzmann thrombasthenia 1 Supplemental_disease_name DISEASE_NAME:glanzmann_thrombasthenia_1_platelet_type_bleeding_disorder_16 Glanzmann thrombasthenia 1;Platelet-type bleeding disorder 16 Supplemental_disease_name DISEASE_NAME:glanzmann_thrombasthenia_2 Glanzmann thrombasthenia 2 Supplemental_disease_name DISEASE_NAME:glanzmann_thrombasthenia_2_bleeding_disorder_platelet_type_24 Glanzmann thrombasthenia 2;Bleeding disorder, platelet-type, 24 Supplemental_disease_name DISEASE_NAME:glanzmann_thrombasthenia_2_bleeding_disorder_platelet_type_24_myocardial_infarction_susceptibility_to Glanzmann thrombasthenia 2;Bleeding disorder, platelet-type, 24;Myocardial infarction, susceptibility to Supplemental_disease_name DISEASE_NAME:glanzmann_thrombasthenia_platelet_type_bleeding_disorder_16 Glanzmann thrombasthenia;Platelet-type bleeding disorder 16 Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_a Glaucoma 1, open angle, A Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_a_digenic GLAUCOMA 1, OPEN ANGLE, A, DIGENIC Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_b Glaucoma 1, open angle, B Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_e Glaucoma 1, open angle, E Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_e_amyotrophic_lateral_sclerosis_type_12_primary_open_angle_glaucoma Glaucoma 1, open angle, E;Amyotrophic lateral sclerosis type 12;Primary open angle glaucoma Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_e_primary_open_angle_glaucoma_amyotrophic_lateral_sclerosis_type_12 Glaucoma 1, open angle, E;Primary open angle glaucoma;Amyotrophic lateral sclerosis type 12 Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_f Glaucoma 1, open angle, F Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_g Glaucoma 1, open angle, G Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_h Glaucoma 1, open angle, H Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_h_cutis_laxa_autosomal_recessive_type_1d_doyne_honeycomb_retinal_dystrophy Glaucoma 1, open angle, H;Cutis laxa, autosomal recessive, type 1d;Doyne honeycomb retinal dystrophy Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_o Glaucoma 1, open angle, O Supplemental_disease_name DISEASE_NAME:glaucoma_1_open_angle_p Glaucoma 1, open angle, P Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_a_digenic GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_d Glaucoma 3, primary congenital, D Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_d_glaucoma_3_primary_infantile_b_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_weill_marchesani_syndrome_3 Glaucoma 3, primary congenital, D;Glaucoma 3, primary infantile, B;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Weill-Marchesani syndrome 3 Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_d_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_d_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_weill_marchesani_syndrome_3 Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Weill-Marchesani syndrome 3 Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_d_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_weill_marchesani_syndrome_3_glaucoma_3_primary_infantile_b Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Weill-Marchesani syndrome 3;Glaucoma 3, primary infantile, B Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_d_microspherophakia_weill_marchesani_syndrome_3 Glaucoma 3, primary congenital, D;Microspherophakia;Weill-Marchesani syndrome 3 Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_d_weill_marchesani_syndrome_3_microspherophakia Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_d_weill_marchesani_syndrome_3_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_e Glaucoma 3, primary congenital, E Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_e_glaucoma_3_primary_infantile_b_multiple_cutaneous_and_mucosal_venous_malformations Glaucoma 3, primary congenital, E;Glaucoma 3, primary infantile, B;Multiple cutaneous and mucosal venous malformations Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_congenital_e_multiple_cutaneous_and_mucosal_venous_malformations Glaucoma 3, primary congenital, E;Multiple cutaneous and mucosal venous malformations Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b Glaucoma 3, primary infantile, B Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_anterior_segment_dysgenesis_6_glaucoma_3a Glaucoma 3, primary infantile, B;Anterior segment dysgenesis 6;Glaucoma 3A Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_glaucoma_3_primary_congenital_d_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_weill_marchesani_syndrome_3 Glaucoma 3, primary infantile, B;Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Weill-Marchesani syndrome 3 Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_glaucoma_3_primary_congenital_d_weill_marchesani_syndrome_3_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma Glaucoma 3, primary infantile, B;Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_glaucoma_3_primary_congenital_e_multiple_cutaneous_and_mucosal_venous_malformations Glaucoma 3, primary infantile, B;Glaucoma 3, primary congenital, E;Multiple cutaneous and mucosal venous malformations Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_glaucoma_3a_anterior_segment_dysgenesis_6 Glaucoma 3, primary infantile, B;Glaucoma 3A;Anterior segment dysgenesis 6 Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_glaucoma_3_primary_congenital_d_weill_marchesani_syndrome_3 Glaucoma 3, primary infantile, B;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3 Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_multiple_cutaneous_and_mucosal_venous_malformations Glaucoma 3, primary infantile, B;Multiple cutaneous and mucosal venous malformations Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_multiple_cutaneous_and_mucosal_venous_malformations_glaucoma_3_primary_congenital_e Glaucoma 3, primary infantile, B;Multiple cutaneous and mucosal venous malformations;Glaucoma 3, primary congenital, E Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_weill_marchesani_syndrome_3_glaucoma_3_primary_congenital_d_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma Glaucoma 3, primary infantile, B;Weill-Marchesani syndrome 3;Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b_weill_marchesani_syndrome_3_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_glaucoma_3_primary_congenital_d Glaucoma 3, primary infantile, B;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Glaucoma 3, primary congenital, D Supplemental_disease_name DISEASE_NAME:glaucoma_3a Glaucoma 3A Supplemental_disease_name DISEASE_NAME:glaucoma_3a_anterior_segment_dysgenesis_6 Glaucoma 3A;Anterior segment dysgenesis 6 Supplemental_disease_name DISEASE_NAME:glaucoma_3a_glaucoma_3_primary_infantile_b_anterior_segment_dysgenesis_6 Glaucoma 3A;Glaucoma 3, primary infantile, B;Anterior segment dysgenesis 6 Supplemental_disease_name DISEASE_NAME:glaucoma_3a_irido_corneo_trabecular_dysgenesis Glaucoma 3A;Irido-corneo-trabecular dysgenesis Supplemental_disease_name DISEASE_NAME:glaucoma_early_onset_digenic Glaucoma, early-onset, digenic Supplemental_disease_name DISEASE_NAME:glaucoma_normal_tension_susceptibility_to Glaucoma, normal tension, susceptibility to Supplemental_disease_name DISEASE_NAME:glaucoma_normal_tension_susceptibility_to_abortive_cerebellar_ataxia_optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type_autosomal_dominant_optic_atrophy_classic_form Glaucoma, normal tension, susceptibility to;Abortive cerebellar ataxia;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type);Autosomal dominant optic atrophy classic form Supplemental_disease_name DISEASE_NAME:glaucoma_of_childhood_megalocornea_ventricular_septal_defect_scoliosis Glaucoma of childhood;Megalocornea;Ventricular septal defect;Scoliosis Supplemental_disease_name DISEASE_NAME:glaucoma_primary_open_angle_juvenile_onset Glaucoma, primary open angle, juvenile-onset Supplemental_disease_name DISEASE_NAME:glaucoma_thumb_deformity Glaucoma;Thumb deformity Supplemental_disease_name DISEASE_NAME:glb1_related_disorder GLB1-related disorder Supplemental_disease_name DISEASE_NAME:gldc_related_disorder GLDC-related disorder Supplemental_disease_name DISEASE_NAME:gldn_related_disorder GLDN-related disorder Supplemental_disease_name DISEASE_NAME:gle1_related_disorder GLE1-related disorder Supplemental_disease_name DISEASE_NAME:gli1_related_disorder GLI1-related disorder Supplemental_disease_name DISEASE_NAME:gli2_related_disorder GLI2-related disorder Supplemental_disease_name DISEASE_NAME:gli3_related_disorder GLI3-related disorder Supplemental_disease_name DISEASE_NAME:gli3_related_postaxial_polydactyly GLI3-related postaxial polydactyly Supplemental_disease_name DISEASE_NAME:glibenclamide_response Glibenclamide response Supplemental_disease_name DISEASE_NAME:glioblastoma_multiforme_somatic Glioblastoma multiforme, somatic Supplemental_disease_name DISEASE_NAME:glioma Glioma Supplemental_disease_name DISEASE_NAME:glioma_adult_gliomas Glioma/adult gliomas Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_1 Glioma susceptibility 1 Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_1_ovarian_cancer_lung_cancer_visceral_neuropathy_familial_2_autosomal_recessive Glioma susceptibility 1;Ovarian cancer;Lung cancer;Visceral neuropathy, familial, 2, autosomal recessive Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_1_ovarian_cancer_lung_cancer_visceral_neuropathy_familial_2_autosomal_recessive_gastric_cancer Glioma susceptibility 1;Ovarian cancer;Lung cancer;Visceral neuropathy, familial, 2, autosomal recessive;Gastric cancer Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_1_visceral_neuropathy_familial_2_autosomal_recessive_lung_cancer_ovarian_cancer Glioma susceptibility 1;Visceral neuropathy, familial, 2, autosomal recessive;Lung cancer;Ovarian cancer Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2 Glioma susceptibility 2 Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_cowden_syndrome_1_familial_meningioma_familial_prostate_cancer_macrocephaly_autism_syndrome Glioma susceptibility 2;Cowden syndrome 1;Familial meningioma;Familial prostate cancer;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_cowden_syndrome_1_familial_meningioma_macrocephaly_autism_syndrome_prostate_cancer Glioma susceptibility 2;Cowden syndrome 1;Familial meningioma;Macrocephaly-autism syndrome;Prostate cancer Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_cowden_syndrome_1_macrocephaly_autism_syndrome_familial_meningioma_familial_prostate_cancer Glioma susceptibility 2;Cowden syndrome 1;Macrocephaly-autism syndrome;Familial meningioma;Familial prostate cancer Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_cowden_syndrome_1_macrocephaly_autism_syndrome_familial_meningioma_prostate_cancer Glioma susceptibility 2;Cowden syndrome 1;Macrocephaly-autism syndrome;Familial meningioma;Prostate cancer Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_familial_meningioma_familial_prostate_cancer_cowden_syndrome_1_macrocephaly_autism_syndrome Glioma susceptibility 2;Familial meningioma;Familial prostate cancer;Cowden syndrome 1;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_familial_meningioma_macrocephaly_autism_syndrome_familial_prostate_cancer_cowden_syndrome_1 Glioma susceptibility 2;Familial meningioma;Macrocephaly-autism syndrome;Familial prostate cancer;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_familial_prostate_cancer_familial_meningioma_cowden_syndrome_1_macrocephaly_autism_syndrome Glioma susceptibility 2;Familial prostate cancer;Familial meningioma;Cowden syndrome 1;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_familial_prostate_cancer_macrocephaly_autism_syndrome_cowden_syndrome_1_familial_meningioma Glioma susceptibility 2;Familial prostate cancer;Macrocephaly-autism syndrome;Cowden syndrome 1;Familial meningioma Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_familial_prostate_cancer_macrocephaly_autism_syndrome_familial_meningioma_cowden_syndrome_1 Glioma susceptibility 2;Familial prostate cancer;Macrocephaly-autism syndrome;Familial meningioma;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_macrocephaly_autism_syndrome_familial_meningioma_prostate_cancer_cowden_syndrome_1 Glioma susceptibility 2;Macrocephaly-autism syndrome;Familial meningioma;Prostate cancer;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_macrocephaly_autism_syndrome_familial_prostate_cancer_familial_meningioma_cowden_syndrome_1 Glioma susceptibility 2;Macrocephaly-autism syndrome;Familial prostate cancer;Familial meningioma;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_2_prostate_cancer_familial_meningioma_cowden_syndrome_1_macrocephaly_autism_syndrome Glioma susceptibility 2;Prostate cancer;Familial meningioma;Cowden syndrome 1;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_3 Glioma susceptibility 3 Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_7 Glioma susceptibility 7 Supplemental_disease_name DISEASE_NAME:glipizide_response Glipizide response Supplemental_disease_name DISEASE_NAME:glis2_related_disorder GLIS2-related disorder Supplemental_disease_name DISEASE_NAME:glis3_related_disorder GLIS3-related disorder Supplemental_disease_name DISEASE_NAME:glmn_related_disorder GLMN-related disorder Supplemental_disease_name DISEASE_NAME:global_developmental_delay Global developmental delay Supplemental_disease_name DISEASE_NAME:global_developmental_delay_2_3_finger_cutaneous_syndactyly Global developmental delay;2-3 finger cutaneous syndactyly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_abnormal_corpus_callosum_morphology_seizure_microphthalmia_isolated_with_coloboma Global developmental delay;Abnormal corpus callosum morphology;Seizure;Microphthalmia, isolated, with coloboma Supplemental_disease_name DISEASE_NAME:global_developmental_delay_abnormal_facial_shape Global developmental delay;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:global_developmental_delay_abnormal_facial_shape_delayed_speech_and_language_development_spina_bifida_occulta_inguinal_hernia Global developmental delay;Abnormal facial shape;Delayed speech and language development;Spina bifida occulta;Inguinal hernia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_abnormal_facial_shape_hyporeflexia_neonatal_hypotonia Global developmental delay;Abnormal facial shape;Hyporeflexia;Neonatal hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_abnormal_facial_shape_intellectual_disability_brachydactyly Global developmental delay;Abnormal facial shape;Intellectual disability;Brachydactyly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_abnormal_facial_shape_truncal_obesity_microcephaly Global developmental delay;Abnormal facial shape;Truncal obesity;Microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_abnormal_heart_morphology_hearing_impairment Global developmental delay;Abnormal heart morphology;Hearing impairment Supplemental_disease_name DISEASE_NAME:global_developmental_delay_absent_or_hypoplastic_corpus_callosum_and_dysmorphic_facies Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies Supplemental_disease_name DISEASE_NAME:global_developmental_delay_absent_speech_difficulty_walking_thoracic_scoliosis Global developmental delay;Absent speech;Difficulty walking;Thoracic scoliosis Supplemental_disease_name DISEASE_NAME:global_developmental_delay_absent_speech_limb_dystonia Global developmental delay;Absent speech;Limb dystonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_absent_speech_seizure Global developmental delay;Absent speech;Seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_amblyopia_hypertonia Global developmental delay;Amblyopia;Hypertonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_aplasia_hypoplasia_of_the_cerebellum Global developmental delay;Aplasia/Hypoplasia of the cerebellum Supplemental_disease_name DISEASE_NAME:global_developmental_delay_attention_deficit_hyperactivity_disorder_intellectual_disability Global developmental delay;Attention deficit hyperactivity disorder;Intellectual disability Supplemental_disease_name DISEASE_NAME:global_developmental_delay_atypical_behavior Global developmental delay;Atypical behavior Supplemental_disease_name DISEASE_NAME:global_developmental_delay_atypical_behavior_autistic_behavior Global developmental delay;Atypical behavior;Autistic behavior Supplemental_disease_name DISEASE_NAME:global_developmental_delay_atypical_behavior_delayed_speech_and_language_development Global developmental delay;Atypical behavior;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:global_developmental_delay_atypical_behavior_generalized_onset_seizure_cerebellar_ataxia_recurrent_fractures Global developmental delay;Atypical behavior;Generalized-onset seizure;Cerebellar ataxia;Recurrent fractures Supplemental_disease_name DISEASE_NAME:global_developmental_delay_autism Global developmental delay;Autism Supplemental_disease_name DISEASE_NAME:global_developmental_delay_autism_severe_intellectual_disability_generalized_hypotonia Global developmental delay;Autism;Severe intellectual disability;Generalized hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_autistic_behavior Global developmental delay;Autistic behavior Supplemental_disease_name DISEASE_NAME:global_developmental_delay_autistic_behavior_hypotonia_seizure Global developmental delay;Autistic behavior;Hypotonia;Seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_blindness Global developmental delay;Blindness Supplemental_disease_name DISEASE_NAME:global_developmental_delay_brain_atrophy Global developmental delay;Brain atrophy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_brain_atrophy_central_hypoventilation_neurodegeneration_progressive_microcephaly Global developmental delay;Brain atrophy;Central hypoventilation;Neurodegeneration;Progressive microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_brain_atrophy_intractable_seizure Global developmental delay;Brain atrophy;Intractable seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_brain_malformation_seizure Global developmental delay;Brain malformation;Seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_cataract_cerebellar_atrophy_generalized_hypotonia_ptosis Global developmental delay;Cataract;Cerebellar atrophy;Generalized hypotonia;Ptosis Supplemental_disease_name DISEASE_NAME:global_developmental_delay_cerebellar_ataxia_absent_speech Global developmental delay;Cerebellar ataxia;Absent speech Supplemental_disease_name DISEASE_NAME:global_developmental_delay_cerebellar_ataxia_mild_intellectual_disability Global developmental delay;Cerebellar ataxia;Mild intellectual disability Supplemental_disease_name DISEASE_NAME:global_developmental_delay_cerebellar_ataxia_mild_intellectual_disability_dyskinesia Global developmental delay;Cerebellar ataxia;Mild intellectual disability;Dyskinesia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_cerebellar_atrophy Global developmental delay;Cerebellar atrophy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_cerebellar_atrophy_bilateral_squint_hydrocephalus Global developmental delay;Cerebellar atrophy;Bilateral squint;Hydrocephalus Supplemental_disease_name DISEASE_NAME:global_developmental_delay_cerebellar_atrophy_kleefstra_syndrome_2 Global developmental delay;Cerebellar atrophy;Kleefstra syndrome 2 Supplemental_disease_name DISEASE_NAME:global_developmental_delay_cerebellar_vermis_atrophy_generalized_hypotonia_visual_impairment_seizure Global developmental delay;Cerebellar vermis atrophy;Generalized hypotonia;Visual impairment;Seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_cleft_palate_vitreoretinopathy Global developmental delay;Cleft palate;Vitreoretinopathy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_clinodactyly_of_the_5th_finger_abnormal_brain_morphology Global developmental delay;Clinodactyly of the 5th finger;Abnormal brain morphology Supplemental_disease_name DISEASE_NAME:global_developmental_delay_congenital_cerebellar_hypoplasia_primary_microcephaly_hypertonia_nystagmus Global developmental delay;Congenital cerebellar hypoplasia;Primary microcephaly;Hypertonia;Nystagmus Supplemental_disease_name DISEASE_NAME:global_developmental_delay_congenital_cerebellar_hypoplasia_torticollis_microcephaly_secondary_microcephaly Global developmental delay;Congenital cerebellar hypoplasia;Torticollis;Microcephaly;Secondary microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_decreased_total_neutrophil_count Global developmental delay;Decreased total neutrophil count Supplemental_disease_name DISEASE_NAME:global_developmental_delay_delayed_speech_and_language_development Global developmental delay;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:global_developmental_delay_delayed_speech_and_language_development_attention_deficit_hyperactivity_disorder Global developmental delay;Delayed speech and language development;Attention deficit hyperactivity disorder Supplemental_disease_name DISEASE_NAME:global_developmental_delay_delayed_speech_and_language_development_mild_intellectual_disability_eczematoid_dermatitis Global developmental delay;Delayed speech and language development;Mild intellectual disability;Eczematoid dermatitis Supplemental_disease_name DISEASE_NAME:global_developmental_delay_delayed_speech_and_language_development_motor_delay Global developmental delay;Delayed speech and language development;Motor delay Supplemental_disease_name DISEASE_NAME:global_developmental_delay_delayed_speech_and_language_development_motor_delay_hypotonia Global developmental delay;Delayed speech and language development;Motor delay;Hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_developmental_regression Global developmental delay;Developmental regression Supplemental_disease_name DISEASE_NAME:global_developmental_delay_dysarthria_hypotonia Global developmental delay;Dysarthria;Hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_dysmorphic_features_hypotonia Global developmental delay;Dysmorphic features;Hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_enlarged_cisterna_magna Global developmental delay;Enlarged cisterna magna Supplemental_disease_name DISEASE_NAME:global_developmental_delay_exaggerated_startle_response_eeg_abnormality Global developmental delay;Exaggerated startle response;EEG abnormality Supplemental_disease_name DISEASE_NAME:global_developmental_delay_failure_to_thrive Global developmental delay;Failure to thrive Supplemental_disease_name DISEASE_NAME:global_developmental_delay_fetal_growth_restriction_lactic_acidosis Global developmental delay;Fetal growth restriction;Lactic acidosis Supplemental_disease_name DISEASE_NAME:global_developmental_delay_floppy_infant_short_philtrum_seizure_hypotelorism Global developmental delay;Floppy infant;Short philtrum;Seizure;Hypotelorism Supplemental_disease_name DISEASE_NAME:global_developmental_delay_focal_onset_seizure Global developmental delay;Focal-onset seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_generalized_hypotonia Global developmental delay;Generalized hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_generalized_hypotonia_abnormal_facial_shape Global developmental delay;Generalized hypotonia;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:global_developmental_delay_growth_delay_hypotonia_oral_motor_hypotonia Global developmental delay;Growth delay;Hypotonia;Oral motor hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_hearing_impairment Global developmental delay;Hearing impairment Supplemental_disease_name DISEASE_NAME:global_developmental_delay_hearing_loss_pontoneocerebellar_hypoplasia Global developmental delay;Hearing loss;Pontoneocerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_high_myopia_retinal_dystrophy Global developmental delay;High myopia;Retinal dystrophy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_hyperammonemia Global developmental delay;Hyperammonemia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_hypertelorism_frontal_bossing_high_anterior_hairline_thin_upper_lip_vermilion Global developmental delay;Hypertelorism;Frontal bossing;High anterior hairline;Thin upper lip vermilion Supplemental_disease_name DISEASE_NAME:global_developmental_delay_hypoglycemia_hepatomegaly_seizure_sensorineural_hearing_loss_disorder Global developmental delay;Hypoglycemia;Hepatomegaly;Seizure;Sensorineural hearing loss disorder Supplemental_disease_name DISEASE_NAME:global_developmental_delay_hypotonia Global developmental delay;Hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_hypotonia_abnormal_facial_shape_hypoplasia_of_the_frontal_lobes Global developmental delay;Hypotonia;Abnormal facial shape;Hypoplasia of the frontal lobes Supplemental_disease_name DISEASE_NAME:global_developmental_delay_hypotonia_motor_delay_polymicrogyria Global developmental delay;Hypotonia;Motor delay;Polymicrogyria Supplemental_disease_name DISEASE_NAME:global_developmental_delay_infantile_spasms Global developmental delay;Infantile spasms Supplemental_disease_name DISEASE_NAME:global_developmental_delay_intellectual_disability Global developmental delay;Intellectual disability Supplemental_disease_name DISEASE_NAME:global_developmental_delay_intellectual_disability_delayed_speech_and_language_development_neonatal_hypotonia Global developmental delay;Intellectual disability;Delayed speech and language development;Neonatal hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_intellectual_disability_floppy_infant_hypotonia Global developmental delay;Intellectual disability;Floppy infant;Hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_intellectual_disability_generalized_hypotonia Global developmental delay;Intellectual disability;Generalized hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_intellectual_disability_neonatal_hypotonia_delayed_speech_and_language_development Global developmental delay;Intellectual disability;Neonatal hypotonia;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:global_developmental_delay_intellectual_disability_neonatal_hypotonia_delayed_speech_and_language_development_seizure Global developmental delay;Intellectual disability;Neonatal hypotonia;Delayed speech and language development;Seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_intellectual_disability_seizure_delayed_speech_and_language_development_neonatal_hypotonia Global developmental delay;Intellectual disability;Seizure;Delayed speech and language development;Neonatal hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_intellectual_disability_seizure_hypotonia_bilateral_tonic_clonic_seizure Global developmental delay;Intellectual disability;Seizure;Hypotonia;Bilateral tonic-clonic seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_intellectual_disability_self_injurious_behavior_autistic_behavior Global developmental delay;Intellectual disability;Self-injurious behavior;Autistic behavior Supplemental_disease_name DISEASE_NAME:global_developmental_delay_jaundice Global developmental delay;Jaundice Supplemental_disease_name DISEASE_NAME:global_developmental_delay_language_disorder Global developmental delay;Language disorder Supplemental_disease_name DISEASE_NAME:global_developmental_delay_large_for_gestational_age_hypotonia_seizure_microcephaly Global developmental delay;Large for gestational age;Hypotonia;Seizure;Microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_light_complexion_early_onset_focal_segmental_glomerulosclerosis Global developmental delay;Light complexion;Early onset focal segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Supplemental_disease_name DISEASE_NAME:global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_euthyroid_goiter_pleuropulmonary_blastoma_rhabdomyosarcoma_embryonal_2 Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Euthyroid goiter;Pleuropulmonary blastoma;Rhabdomyosarcoma, embryonal, 2 Supplemental_disease_name DISEASE_NAME:global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_euthyroid_goiter_rhabdomyosarcoma_embryonal_2_pleuropulmonary_blastoma Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Euthyroid goiter;Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma Supplemental_disease_name DISEASE_NAME:global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_pleuropulmonary_blastoma_rhabdomyosarcoma_embryonal_2_euthyroid_goiter Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Pleuropulmonary blastoma;Rhabdomyosarcoma, embryonal, 2;Euthyroid goiter Supplemental_disease_name DISEASE_NAME:global_developmental_delay_macrocephaly Global developmental delay;Macrocephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_macrocephaly_generalized_hypotonia Global developmental delay;Macrocephaly;Generalized hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_microcephaly Global developmental delay;Microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_microcephaly_abnormal_cerebellum_morphology Global developmental delay;Microcephaly;Abnormal cerebellum morphology Supplemental_disease_name DISEASE_NAME:global_developmental_delay_microcephaly_cerebral_white_matter_hypoplasia_hypoplasia_of_the_corpus_callosum Global developmental delay;Microcephaly;Cerebral white matter hypoplasia;Hypoplasia of the corpus callosum Supplemental_disease_name DISEASE_NAME:global_developmental_delay_mild_intellectual_disability_autistic_behavior_seizure Global developmental delay;Mild intellectual disability;Autistic behavior;Seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_mitochondrial_encephalomyopathy Global developmental delay;Mitochondrial encephalomyopathy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_motor_polyneuropathy_aplasia_hypoplasia_of_the_cerebellum Global developmental delay;Motor polyneuropathy;Aplasia/Hypoplasia of the cerebellum Supplemental_disease_name DISEASE_NAME:global_developmental_delay_myopathic_facies_hypotonia Global developmental delay;Myopathic facies;Hypotonia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_neurodegeneration Global developmental delay;Neurodegeneration Supplemental_disease_name DISEASE_NAME:global_developmental_delay_obesity_generalized_epilepsy Global developmental delay;Obesity;Generalized epilepsy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_overweight Global developmental delay;Overweight Supplemental_disease_name DISEASE_NAME:global_developmental_delay_primary_microcephaly Global developmental delay;Primary microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_primary_microcephaly_cerebellar_atrophy Global developmental delay;Primary microcephaly;Cerebellar atrophy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_progressive_ataxia_and_elevated_glutamine Global developmental delay, progressive ataxia, and elevated glutamine Supplemental_disease_name DISEASE_NAME:global_developmental_delay_rieger_anomaly Global developmental delay;Rieger anomaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_rod_cone_dystrophy_nystagmus_autism_retinal_dystrophy Global developmental delay;Rod-cone dystrophy;Nystagmus;Autism;Retinal dystrophy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_secondary_microcephaly_expressive_language_delay Global developmental delay;Secondary microcephaly;Expressive language delay Supplemental_disease_name DISEASE_NAME:global_developmental_delay_seizure Global developmental delay;Seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_seizure_brain_atrophy Global developmental delay;Seizure;Brain atrophy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_seizure_chronic_kidney_disease Global developmental delay;Seizure;Chronic kidney disease Supplemental_disease_name DISEASE_NAME:global_developmental_delay_seizure_cognitive_impairment Global developmental delay;Seizure;Cognitive impairment Supplemental_disease_name DISEASE_NAME:global_developmental_delay_seizure_hydrocephalus Global developmental delay;Seizure;Hydrocephalus Supplemental_disease_name DISEASE_NAME:global_developmental_delay_seizure_intellectual_disability Global developmental delay;Seizure;Intellectual disability Supplemental_disease_name DISEASE_NAME:global_developmental_delay_seizure_nystagmus_microcephaly Global developmental delay;Seizure;Nystagmus;Microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_seizure_optic_atrophy_stereotypic_movement_disorder_microcephaly Global developmental delay;Seizure;Optic atrophy;Stereotypic movement disorder;Microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_seizure_primary_microcephaly Global developmental delay;Seizure;Primary microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_sensorineural_hearing_loss_disorder_zscan10_deficiency Global developmental delay;Sensorineural hearing loss disorder;ZSCAN10 Deficiency Supplemental_disease_name DISEASE_NAME:global_developmental_delay_short_stature Global developmental delay;Short stature Supplemental_disease_name DISEASE_NAME:global_developmental_delay_short_stature_delayed_speech_and_language_development_intellectual_disability_brain_imaging_abnormality Global developmental delay;Short stature;Delayed speech and language development;Intellectual disability;Brain imaging abnormality Supplemental_disease_name DISEASE_NAME:global_developmental_delay_short_stature_microcephaly Global developmental delay;Short stature;Microcephaly Supplemental_disease_name DISEASE_NAME:global_developmental_delay_specific_learning_disability Global developmental delay;Specific learning disability Supplemental_disease_name DISEASE_NAME:global_developmental_delay_specific_learning_disability_autistic_behavior Global developmental delay;Specific learning disability;Autistic behavior Supplemental_disease_name DISEASE_NAME:global_developmental_delay_specific_learning_disability_intellectual_disability Global developmental delay;Specific learning disability;Intellectual disability Supplemental_disease_name DISEASE_NAME:global_developmental_delay_speech_apraxia Global developmental delay;Speech apraxia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_strabismus_seizure Global developmental delay;Strabismus;Seizure Supplemental_disease_name DISEASE_NAME:global_developmental_delay_strabismus_short_stature Global developmental delay;Strabismus;Short stature Supplemental_disease_name DISEASE_NAME:global_developmental_delay_typical_joubert_syndrome_mri_findings Global developmental delay;Typical Joubert syndrome MRI findings Supplemental_disease_name DISEASE_NAME:global_developmental_delay_ventricular_septal_defect_feeding_difficulties_laryngeal_hypoplasia Global developmental delay;Ventricular septal defect;Feeding difficulties;Laryngeal hypoplasia Supplemental_disease_name DISEASE_NAME:global_developmental_delay_visual_anomalies_progressive_cerebellar_atrophy_truncal_hypotonia_syndrome Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Supplemental_disease_name DISEASE_NAME:global_developmental_delay_visual_impairment_cerebral_palsy Global developmental delay;Visual impairment;Cerebral palsy Supplemental_disease_name DISEASE_NAME:global_developmental_delay_with_dysmorphic_features_liver_dysfunction_pruritus_and_woolly_hair Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair Supplemental_disease_name DISEASE_NAME:global_developmental_delay_with_or_without_impaired_intellectual_development Global developmental delay with or without impaired intellectual development Supplemental_disease_name DISEASE_NAME:global_developmental_delay_with_speech_and_behavioral_abnormalities Global developmental delay with speech and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:global_hypotonia global hypotonia Supplemental_disease_name DISEASE_NAME:global_proximal_tubulopathy_failure_to_thrive_cholestatic_liver_disease_premature_ovarian_insufficiency_cutaneous_photosensitivity Global proximal tubulopathy;Failure to thrive;Cholestatic liver disease;Premature ovarian insufficiency;Cutaneous photosensitivity Supplemental_disease_name DISEASE_NAME:glomerular_sclerosis Glomerular sclerosis Supplemental_disease_name DISEASE_NAME:glomerulopathy_hypertensive_disorder_mild_proteinuria Glomerulopathy;Hypertensive disorder;Mild proteinuria Supplemental_disease_name DISEASE_NAME:glomerulopathy_with_fibronectin_deposits Glomerulopathy with fibronectin deposits Supplemental_disease_name DISEASE_NAME:glomerulopathy_with_fibronectin_deposits_1_spondylometaphyseal_dysplasia_sutcliffe_type Glomerulopathy with fibronectin deposits 1;Spondylometaphyseal dysplasia - Sutcliffe type Supplemental_disease_name DISEASE_NAME:glomerulopathy_with_fibronectin_deposits_2 Glomerulopathy with fibronectin deposits 2 Supplemental_disease_name DISEASE_NAME:glomerulopathy_with_fibronectin_deposits_2_spondylometaphyseal_dysplasia_sutcliffe_type Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia - Sutcliffe type Supplemental_disease_name DISEASE_NAME:glomerulotubular_nephropathy Glomerulotubular Nephropathy Supplemental_disease_name DISEASE_NAME:glra1_related_disorder GLRA1-related disorder Supplemental_disease_name DISEASE_NAME:glra2_related_disorder GLRA2-related disorder Supplemental_disease_name DISEASE_NAME:glrb_related_disorder GLRB-related disorder Supplemental_disease_name DISEASE_NAME:glrx5_related_disorder GLRX5-related disorder Supplemental_disease_name DISEASE_NAME:gls_related_disorder GLS-related disorder Supplemental_disease_name DISEASE_NAME:glt8d1_related_disorder GLT8D1-related disorder Supplemental_disease_name DISEASE_NAME:glucocorticoid_deficiency Glucocorticoid deficiency Supplemental_disease_name DISEASE_NAME:glucocorticoid_deficiency_4 Glucocorticoid deficiency 4 Supplemental_disease_name DISEASE_NAME:glucocorticoid_deficiency_4_with_mineralocorticoid_deficiency GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY Supplemental_disease_name DISEASE_NAME:glucocorticoid_deficiency_with_achalasia Glucocorticoid deficiency with achalasia Supplemental_disease_name DISEASE_NAME:glucocorticoid_remediable_aldosteronism_deficiency_of_steroid_11_beta_monooxygenase Glucocorticoid-remediable aldosteronism;Deficiency of steroid 11-beta-monooxygenase Supplemental_disease_name DISEASE_NAME:glucocorticoid_resistance Glucocorticoid resistance Supplemental_disease_name DISEASE_NAME:glucocorticoid_resistance_atypical GLUCOCORTICOID RESISTANCE, ATYPICAL Supplemental_disease_name DISEASE_NAME:glucocorticoid_resistance_cellular GLUCOCORTICOID RESISTANCE, CELLULAR Supplemental_disease_name DISEASE_NAME:glucocorticoid_resistance_mild GLUCOCORTICOID RESISTANCE, MILD Supplemental_disease_name DISEASE_NAME:glucocorticoid_therapy_response_to Glucocorticoid therapy, response to Supplemental_disease_name DISEASE_NAME:glucose_6_phosphate_transport_defect Glucose-6-phosphate transport defect Supplemental_disease_name DISEASE_NAME:glucose_6_phosphate_transport_defect_congenital_disorder_of_glycosylation_type_iiw_phosphate_transport_defect Glucose-6-phosphate transport defect;Congenital disorder of glycosylation, type IIw;Phosphate transport defect Supplemental_disease_name DISEASE_NAME:glucose_6_phosphate_transport_defect_phosphate_transport_defect Glucose-6-phosphate transport defect;Phosphate transport defect Supplemental_disease_name DISEASE_NAME:glucose_6_phosphate_transport_defect_phosphate_transport_defect_congenital_disorder_of_glycosylation_type_iiw Glucose-6-phosphate transport defect;Phosphate transport defect;Congenital disorder of glycosylation, type IIw Supplemental_disease_name DISEASE_NAME:glud1_related_disorder GLUD1-related disorder Supplemental_disease_name DISEASE_NAME:glud2_related_disorder GLUD2-related disorder Supplemental_disease_name DISEASE_NAME:glul_related_disorder GLUL-related disorder Supplemental_disease_name DISEASE_NAME:glut1_deficiency_syndrome Glut1 deficiency syndrome Supplemental_disease_name DISEASE_NAME:glut1_deficiency_syndrome_1_autosomal_recessive GLUT1 deficiency syndrome 1, autosomal recessive Supplemental_disease_name DISEASE_NAME:glutamine_related_condition Glutamine related condition Supplemental_disease_name DISEASE_NAME:glutamine_synthetase_stabilization_disorder Glutamine synthetase stabilization disorder Supplemental_disease_name DISEASE_NAME:glutaric_acidaemia_i_newborn_screening_follow_up Glutaric acidaemia I newborn screening follow up Supplemental_disease_name DISEASE_NAME:glutaric_acidemia_iia Glutaric acidemia IIa Supplemental_disease_name DISEASE_NAME:glutaric_acidemia_iib Glutaric acidemia IIb Supplemental_disease_name DISEASE_NAME:glutaric_acidemia_iic Glutaric acidemia IIc Supplemental_disease_name DISEASE_NAME:glutaric_acidemia_iic_late_onset Glutaric acidemia iic, late-onset Supplemental_disease_name DISEASE_NAME:glutaric_acidemia_type_2a Glutaric acidemia type 2A Supplemental_disease_name DISEASE_NAME:glutaric_acidemia_type_2c Glutaric acidemia type 2C Supplemental_disease_name DISEASE_NAME:glutaric_aciduria Glutaric aciduria Supplemental_disease_name DISEASE_NAME:glutaric_aciduria_type_1 Glutaric aciduria, type 1 Supplemental_disease_name DISEASE_NAME:glutathione_synthetase_deficiency_with_5_oxoprolinuria_glutathione_synthetase_deficiency_without_5_oxoprolinuria Glutathione synthetase deficiency with 5-oxoprolinuria;Glutathione synthetase deficiency without 5-oxoprolinuria Supplemental_disease_name DISEASE_NAME:glutathione_synthetase_deficiency_without_5_oxoprolinuria_glutathione_synthetase_deficiency_with_5_oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria;Glutathione synthetase deficiency with 5-oxoprolinuria Supplemental_disease_name DISEASE_NAME:gluthathione_peroxidase_deficiency Gluthathione peroxidase deficiency Supplemental_disease_name DISEASE_NAME:glycemia_variation GLYCEMIA VARIATION Supplemental_disease_name DISEASE_NAME:glycerol_quantitative_trait_locus GLYCEROL QUANTITATIVE TRAIT LOCUS Supplemental_disease_name DISEASE_NAME:glycine_encephalopathy_developmental_and_epileptic_encephalopathy_9 Glycine encephalopathy;Developmental and epileptic encephalopathy, 9 Supplemental_disease_name DISEASE_NAME:glycogen_phosphorylase_kinase_deficiency Glycogen phosphorylase kinase deficiency Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_acid_maltase_deficiency_late_onset Glycogen storage disease due to acid maltase deficiency, late-onset Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_acid_maltase_deficiency_late_onset_glycogen_storage_disease_type_ii Glycogen storage disease due to acid maltase deficiency, late-onset;Glycogen storage disease, type II Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_glucose_6_phosphatase_deficiency_type_ia Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_glycogen_branching_enzyme_deficiency_childhood_neuromuscular_form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_glycogen_branching_enzyme_deficiency_congenital_neuromuscular_form Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_glycogen_branching_enzyme_deficiency_fatal_perinatal_neuromuscular_form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_lactate_dehydrogenase_h_subunit_deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_lactate_dehydrogenase_m_subunit_deficiency Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_due_to_muscle_beta_enolase_deficiency Glycogen storage disease due to muscle beta-enolase deficiency Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_iiic Glycogen storage disease IIIc Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_iv_classic_hepatic Glycogen storage disease IV, classic hepatic Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_iv_classic_hepatic_glycogen_storage_disease_type_iv Glycogen storage disease IV, classic hepatic;Glycogen storage disease, type IV Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_iv_combined_hepatic_and_myopathic Glycogen storage disease IV, combined hepatic and myopathic Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_iv_nonprogressive_hepatic Glycogen storage disease IV, nonprogressive hepatic Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_type_1_due_to_slc37a4_mutation Glycogen storage disease type 1 due to SLC37A4 mutation Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_type_ii_glycogen_storage_disease_due_to_acid_maltase_deficiency_late_onset Glycogen storage disease, type II;Glycogen storage disease due to acid maltase deficiency, late-onset Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_type_ii_infantile Glycogen storage disease type II, infantile Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_type_iv_adult_polyglucosan_body_disease Glycogen storage disease, type IV;Adult polyglucosan body disease Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_type_iv_glycogen_storage_disease_iv_classic_hepatic Glycogen storage disease, type IV;Glycogen storage disease IV, classic hepatic Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_type_iv_polyglucosan_body_myopathy_type_1 Glycogen storage disease, type IV;Polyglucosan body myopathy type 1 Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_type_x Glycogen storage disease type X Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_xv_polyglucosan_body_myopathy_type_2 Glycogen storage disease XV;Polyglucosan body myopathy type 2 Supplemental_disease_name DISEASE_NAME:glycogen_storage_disorder_due_to_hepatic_glycogen_synthase_deficiency Glycogen storage disorder due to hepatic glycogen synthase deficiency Supplemental_disease_name DISEASE_NAME:glycolate_oxidase_deficiency glycolate oxidase deficiency Supplemental_disease_name DISEASE_NAME:glycoprotein_storage_disease Glycoprotein storage disease Supplemental_disease_name DISEASE_NAME:glycosuria Glycosuria Supplemental_disease_name DISEASE_NAME:glycosylphosphatidylinositol_biosynthesis_defect Glycosylphosphatidylinositol biosynthesis defect Supplemental_disease_name DISEASE_NAME:glycosylphosphatidylinositol_biosynthesis_defect_15 Glycosylphosphatidylinositol biosynthesis defect 15 Supplemental_disease_name DISEASE_NAME:glycosylphosphatidylinositol_biosynthesis_defect_17 Glycosylphosphatidylinositol biosynthesis defect 17 Supplemental_disease_name DISEASE_NAME:glycosylphosphatidylinositol_biosynthesis_defect_18 Glycosylphosphatidylinositol biosynthesis defect 18 Supplemental_disease_name DISEASE_NAME:glycosylphosphatidylinositol_biosynthesis_defect_21 Glycosylphosphatidylinositol biosynthesis defect 21 Supplemental_disease_name DISEASE_NAME:glycosylphosphatidylinositol_biosynthesis_defect_25 Glycosylphosphatidylinositol biosynthesis defect 25 Supplemental_disease_name DISEASE_NAME:glyctk_related_disorder GLYCTK-related disorder Supplemental_disease_name DISEASE_NAME:glyr1_related_disorder GLYR1-related disorder Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_mucopolysaccharidosis_mps_iv_b GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_type_2_gm1_gangliosidosis_type_3_infantile_gm1_gangliosidosis_mucopolysaccharidosis_mps_iv_b GM1 gangliosidosis type 2;GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_type_2_infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_3_mucopolysaccharidosis_mps_iv_b GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_type_2_infantile_gm1_gangliosidosis_mucopolysaccharidosis_mps_iv_b_gm1_gangliosidosis_type_3 GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 3 Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_type_2_mucopolysaccharidosis_mps_iv_b_infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_3 GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3 Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_type_3_gm1_gangliosidosis_type_2_infantile_gm1_gangliosidosis_mucopolysaccharidosis_mps_iv_b GM1 gangliosidosis type 3;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_type_3_gm1_gangliosidosis_type_2_mucopolysaccharidosis_mps_iv_b_infantile_gm1_gangliosidosis GM1 gangliosidosis type 3;GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_type_3_infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_2_mucopolysaccharidosis_mps_iv_b GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_type_3_infantile_gm1_gangliosidosis_mucopolysaccharidosis_mps_iv_b_gm1_gangliosidosis_type_2 GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2 Supplemental_disease_name DISEASE_NAME:gm1_gangliosidosis_type_i_with_cardiac_involvement GM1-gangliosidosis, type I, with cardiac involvement Supplemental_disease_name DISEASE_NAME:gm2_ganglioside_accumulation GM2-ganglioside accumulation Supplemental_disease_name DISEASE_NAME:gm2_gangliosidosis_adult Gm2-gangliosidosis, adult Supplemental_disease_name DISEASE_NAME:gm2_gangliosidosis_adult_onset GM2-gangliosidosis, adult-onset Supplemental_disease_name DISEASE_NAME:gm2_gangliosidosis_b1_variant GM2-GANGLIOSIDOSIS, B1 VARIANT Supplemental_disease_name DISEASE_NAME:gm2_gangliosidosis_chronic GM2-GANGLIOSIDOSIS, CHRONIC Supplemental_disease_name DISEASE_NAME:gm2_gangliosidosis_juvenile GM2-GANGLIOSIDOSIS, JUVENILE Supplemental_disease_name DISEASE_NAME:gm2a_related_condition GM2A-related condition Supplemental_disease_name DISEASE_NAME:gm3_synthase_deficiency GM3 synthase deficiency Supplemental_disease_name DISEASE_NAME:gmnn_related_disorder GMNN-related disorder Supplemental_disease_name DISEASE_NAME:gmppa_related_disorder GMPPA-related disorder Supplemental_disease_name DISEASE_NAME:gmppb_related_disorder GMPPB-related disorder Supplemental_disease_name DISEASE_NAME:gmpr_polymorphism GMPR POLYMORPHISM Supplemental_disease_name DISEASE_NAME:gna11_related_disorder GNA11-related disorder Supplemental_disease_name DISEASE_NAME:gna14_related_congenital_vascular_tumors GNA14-related congenital vascular tumors Supplemental_disease_name DISEASE_NAME:gnai1_associated_neurodevelopmental_disorder GNAI1 associated Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:gnai1_related_disorder GNAI1-related disorder Supplemental_disease_name DISEASE_NAME:gnai2_related_disorder GNAI2-related disorder Supplemental_disease_name DISEASE_NAME:gnai3_related_disorder GNAI3-related disorder Supplemental_disease_name DISEASE_NAME:gnal_related_disorder GNAL-related disorder Supplemental_disease_name DISEASE_NAME:gnao1_related_developmental_delay_seizures_movement_disorder_spectrum GNAO1-related developmental delay-seizures-movement disorder spectrum Supplemental_disease_name DISEASE_NAME:gnao1_related_disorder GNAO1-related disorder Supplemental_disease_name DISEASE_NAME:gnao1_related_neurodevelopmental_disorder GNAO1-Related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:gnaq_related_disorder GNAQ-related disorder Supplemental_disease_name DISEASE_NAME:gnas_as1_related_condition GNAS-AS1-related condition Supplemental_disease_name DISEASE_NAME:gnas_associated_disease GNAS-associated disease Supplemental_disease_name DISEASE_NAME:gnas_related_disorder GNAS-related disorder Supplemental_disease_name DISEASE_NAME:gnat1_related_disorder GNAT1-related disorder Supplemental_disease_name DISEASE_NAME:gnat2_related_disorder GNAT2-related disorder Supplemental_disease_name DISEASE_NAME:gnathodiaphyseal_dysplasia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L Supplemental_disease_name DISEASE_NAME:gnathodiaphyseal_dysplasia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l_miyoshi_muscular_dystrophy_3 Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3 Supplemental_disease_name DISEASE_NAME:gnathodiaphyseal_dysplasia_miyoshi_muscular_dystrophy_3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l Gnathodiaphyseal dysplasia;Miyoshi muscular dystrophy 3;Autosomal recessive limb-girdle muscular dystrophy type 2L Supplemental_disease_name DISEASE_NAME:gnb1_related_disorder GNB1-related disorder Supplemental_disease_name DISEASE_NAME:gnb1l_related_disorder GNB1L-related disorder Supplemental_disease_name DISEASE_NAME:gnb2_related_disorder GNB2-related disorder Supplemental_disease_name DISEASE_NAME:gnb3_polymorphism GNB3 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:gnb3_related_condition GNB3-related condition Supplemental_disease_name DISEASE_NAME:gnb4_related_disorder GNB4-related disorder Supplemental_disease_name DISEASE_NAME:gnb5_related_disorder GNB5-related disorder Supplemental_disease_name DISEASE_NAME:gnb5_related_intellectual_disability_cardiac_arrhythmia_syndrome_language_delay_and_attention_deficit_hyperactivity_disorder_cognitive_impairment_with_or_without_cardiac_arrhythmia Gnb5-related intellectual disability-cardiac arrhythmia syndrome;Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia Supplemental_disease_name DISEASE_NAME:gnb5_reled_disorder GNB5-reled disorder Supplemental_disease_name DISEASE_NAME:gne_myopathy_inclusion_body_myositis GNE myopathy;Inclusion body myositis Supplemental_disease_name DISEASE_NAME:gne_myopathy_sialuria GNE myopathy;Sialuria Supplemental_disease_name DISEASE_NAME:gne_myopathy_sialuria_thrombocytopenia_12_with_or_without_myopathy GNE myopathy;Sialuria;Thrombocytopenia 12 with or without myopathy Supplemental_disease_name DISEASE_NAME:gne_myopathy_thrombocytopenia_12_with_or_without_myopathy GNE myopathy;Thrombocytopenia 12 with or without myopathy Supplemental_disease_name DISEASE_NAME:gne_myopathy_thrombocytopenia_12_with_or_without_myopathy_sialuria GNE myopathy;Thrombocytopenia 12 with or without myopathy;Sialuria Supplemental_disease_name DISEASE_NAME:gne_related_disorder GNE-related disorder Supplemental_disease_name DISEASE_NAME:gnmt_related_disorder GNMT-related disorder Supplemental_disease_name DISEASE_NAME:gnpat_related_disorder GNPAT-related disorder Supplemental_disease_name DISEASE_NAME:gnptab_mucolipidosis GNPTAB-mucolipidosis Supplemental_disease_name DISEASE_NAME:gnptab_related_disorders GNPTAB-Related Disorders Supplemental_disease_name DISEASE_NAME:gnptg_mucolipidosis GNPTG-mucolipidosis Supplemental_disease_name DISEASE_NAME:gnptg_related_disorder GNPTG-related disorder Supplemental_disease_name DISEASE_NAME:gnrhr_related_disorder GNRHR-related disorder Supplemental_disease_name DISEASE_NAME:gns_related_disorder GNS-related disorder Supplemental_disease_name DISEASE_NAME:goldmann_favre_syndrome Goldmann-Favre syndrome Supplemental_disease_name DISEASE_NAME:golga2_related_disorder GOLGA2-related disorder Supplemental_disease_name DISEASE_NAME:golga4_related_disorder GOLGA4-related disorder Supplemental_disease_name DISEASE_NAME:golga7b_related_condition GOLGA7B-related condition Supplemental_disease_name DISEASE_NAME:gon4l_related_disorder GON4L-related disorder Supplemental_disease_name DISEASE_NAME:gon7_related_disorder GON7-related disorder Supplemental_disease_name DISEASE_NAME:gonadal_dysgenesis_dysmorphic_facies_retinal_dystrophy_and_myopathy Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy Supplemental_disease_name DISEASE_NAME:gonadal_tissue_inappropriate_for_external_genitalia_or_chromosomal_sex_cholestasis_gonadal_dysgenesis Gonadal tissue inappropriate for external genitalia or chromosomal sex;Cholestasis;Gonadal dysgenesis Supplemental_disease_name DISEASE_NAME:gonadotropin_deficiency Gonadotropin deficiency Supplemental_disease_name DISEASE_NAME:gonadotropin_independent_familial_sexual_precocity Gonadotropin-independent familial sexual precocity Supplemental_disease_name DISEASE_NAME:gonadotropin_independent_familial_sexual_precocity_leydig_cell_agenesis Gonadotropin-independent familial sexual precocity;Leydig cell agenesis Supplemental_disease_name DISEASE_NAME:gorab_related_disorder GORAB-related disorder Supplemental_disease_name DISEASE_NAME:gordon_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch_arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome Gordon syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Supplemental_disease_name DISEASE_NAME:gordon_syndrome_arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch_marden_walker_syndrome Gordon syndrome;Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome Supplemental_disease_name DISEASE_NAME:gordon_syndrome_arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_marden_walker_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch Gordon syndrome;Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Marden-Walker syndrome;Arthrogryposis, distal, with impaired proprioception and touch Supplemental_disease_name DISEASE_NAME:gordon_syndrome_marden_walker_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch_arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome Gordon syndrome;Marden-Walker syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Supplemental_disease_name DISEASE_NAME:gordon_syndrome_marden_walker_syndrome_arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch Gordon syndrome;Marden-Walker syndrome;Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch Supplemental_disease_name DISEASE_NAME:gorham_stout_disease Gorham-Stout disease Supplemental_disease_name DISEASE_NAME:gorlin_syndrome_basal_cell_carcinoma_susceptibility_to_1_holoprosencephaly_7 Gorlin syndrome;Basal cell carcinoma, susceptibility to, 1;Holoprosencephaly 7 Supplemental_disease_name DISEASE_NAME:gorlin_syndrome_basal_cell_carcinoma_susceptibility_to_1_medulloblastoma Gorlin syndrome;Basal cell carcinoma, susceptibility to, 1;Medulloblastoma Supplemental_disease_name DISEASE_NAME:gorlin_syndrome_holoprosencephaly_7 Gorlin syndrome;Holoprosencephaly 7 Supplemental_disease_name DISEASE_NAME:gorlin_syndrome_holoprosencephaly_7_basal_cell_carcinoma_susceptibility_to_1 Gorlin syndrome;Holoprosencephaly 7;Basal cell carcinoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:gorlin_syndrome_joubert_syndrome_32 Gorlin syndrome;Joubert syndrome 32 Supplemental_disease_name DISEASE_NAME:gorlin_syndrome_medulloblastoma Gorlin syndrome;Medulloblastoma Supplemental_disease_name DISEASE_NAME:gorlin_syndrome_medulloblastoma_familial_meningioma_joubert_syndrome_32 Gorlin syndrome;Medulloblastoma;Familial meningioma;Joubert syndrome 32 Supplemental_disease_name DISEASE_NAME:gorlin_syndrome_medulloblastoma_joubert_syndrome_32_familial_meningioma Gorlin syndrome;Medulloblastoma;Joubert syndrome 32;Familial meningioma Supplemental_disease_name DISEASE_NAME:gosr2_related_disorder GOSR2-related disorder Supplemental_disease_name DISEASE_NAME:got1_related_disorder GOT1-related disorder Supplemental_disease_name DISEASE_NAME:got2_related_disorder GOT2-related disorder Supplemental_disease_name DISEASE_NAME:gp130_deficient_hyper_ige_syndrome GP130-deficient hyper-IgE syndrome Supplemental_disease_name DISEASE_NAME:gp1ba_related_disorder GP1BA-related disorder Supplemental_disease_name DISEASE_NAME:gp1bb_related_disorder GP1BB-related disorder Supplemental_disease_name DISEASE_NAME:gp6_related_disorder GP6-related disorder Supplemental_disease_name DISEASE_NAME:gp9_related_disorder GP9-related disorder Supplemental_disease_name DISEASE_NAME:gpaa1_related_disorder GPAA1-related disorder Supplemental_disease_name DISEASE_NAME:gpatch3_related_disorder GPATCH3-related disorder Supplemental_disease_name DISEASE_NAME:gpbar1_related_disorder GPBAR1-related disorder Supplemental_disease_name DISEASE_NAME:gpc1_related_disorder GPC1-related disorder Supplemental_disease_name DISEASE_NAME:gpc3_related_disorder GPC3-related disorder Supplemental_disease_name DISEASE_NAME:gpc4_related_disorder GPC4-related disorder Supplemental_disease_name DISEASE_NAME:gpc5_related_disorder GPC5-related disorder Supplemental_disease_name DISEASE_NAME:gpc6_related_disorder GPC6-related disorder Supplemental_disease_name DISEASE_NAME:gpd1_related_disorder GPD1-related disorder Supplemental_disease_name DISEASE_NAME:gpd1l_related_disorder GPD1L-related disorder Supplemental_disease_name DISEASE_NAME:gpd2_related_disorder GPD2-related disorder Supplemental_disease_name DISEASE_NAME:gphn_related_disorder GPHN-related disorder Supplemental_disease_name DISEASE_NAME:gpi_related_disorder GPI-related disorder Supplemental_disease_name DISEASE_NAME:gpihbp1_related_disorder GPIHBP1-related disorder Supplemental_disease_name DISEASE_NAME:gpkow_related_disorder GPKOW-related disorder Supplemental_disease_name DISEASE_NAME:gpnmb_related_disorder GPNMB-related disorder Supplemental_disease_name DISEASE_NAME:gpr101_related_disorder GPR101-related disorder Supplemental_disease_name DISEASE_NAME:gpr143_related_disorder GPR143-related disorder Supplemental_disease_name DISEASE_NAME:gpr143_related_foveal_hypoplasia GPR143-related foveal hypoplasia Supplemental_disease_name DISEASE_NAME:gpr156_related_disorder GPR156-related disorder Supplemental_disease_name DISEASE_NAME:gpr160_related_disorder GPR160-related disorder Supplemental_disease_name DISEASE_NAME:gpr161_related_disorder GPR161-related disorder Supplemental_disease_name DISEASE_NAME:gpr174_related_disorder GPR174-related disorder Supplemental_disease_name DISEASE_NAME:gpr179_related_disorder GPR179-related disorder Supplemental_disease_name DISEASE_NAME:gpr180_related_disorder GPR180-related disorder Supplemental_disease_name DISEASE_NAME:gpr45_related_condition GPR45-related condition Supplemental_disease_name DISEASE_NAME:gpr68_related_disorder GPR68-related disorder Supplemental_disease_name DISEASE_NAME:gpr75_related_disorder GPR75-related disorder Supplemental_disease_name DISEASE_NAME:gpr88_related_disorder GPR88-related disorder Supplemental_disease_name DISEASE_NAME:gpr89b_related_condition GPR89B-related condition Supplemental_disease_name DISEASE_NAME:gprasp1_related_disorder GPRASP1-related disorder Supplemental_disease_name DISEASE_NAME:gprasp2_related_disorder GPRASP2-related disorder Supplemental_disease_name DISEASE_NAME:gpsm2_related_disorder GPSM2-related disorder Supplemental_disease_name DISEASE_NAME:gpt2_related_disorder GPT2-related disorder Supplemental_disease_name DISEASE_NAME:gpt2_related_neurodevelopmental_disorder GPT2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:gpt_polymorphism GPT POLYMORPHISM Supplemental_disease_name DISEASE_NAME:gpx1_polymorphism GPX1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:gpx1_related_disorder GPX1-related disorder Supplemental_disease_name DISEASE_NAME:gpx4_related_disorder GPX4-related disorder Supplemental_disease_name DISEASE_NAME:gracile_bone_dysplasia Gracile bone dysplasia Supplemental_disease_name DISEASE_NAME:gracile_syndrome_mitochondrial_complex_iii_deficiency_nuclear_type_1_pili_torti_deafness_syndrome GRACILE syndrome;Mitochondrial complex III deficiency nuclear type 1;Pili torti-deafness syndrome Supplemental_disease_name DISEASE_NAME:gracile_syndrome_pili_torti_deafness_syndrome_mitochondrial_complex_iii_deficiency_nuclear_type_1 GRACILE syndrome;Pili torti-deafness syndrome;Mitochondrial complex III deficiency nuclear type 1 Supplemental_disease_name DISEASE_NAME:grade_i_preterm_intraventricular_hemorrhage_isolated_unilateral_hemispheric_cerebellar_hypoplasia Grade I preterm intraventricular hemorrhage;Isolated unilateral hemispheric cerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:graft_versus_host_disease_resistance_to Graft-versus-host disease, resistance to Supplemental_disease_name DISEASE_NAME:gramd1b_related_disorder GRAMD1B-related disorder Supplemental_disease_name DISEASE_NAME:grange_syndrome Grange syndrome Supplemental_disease_name DISEASE_NAME:granular_cell_cancer Granular cell cancer Supplemental_disease_name DISEASE_NAME:granulocytopenia_with_immunoglobulin_abnormality Granulocytopenia with immunoglobulin abnormality Supplemental_disease_name DISEASE_NAME:granulomatous_disease Granulomatous disease Supplemental_disease_name DISEASE_NAME:granulomatous_disease_chronic_autosomal_recessive_5 Granulomatous disease, chronic, autosomal recessive, 5 Supplemental_disease_name DISEASE_NAME:granulomatous_disease_chronic_autosomal_recessive_cytochrome_b_negative Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Supplemental_disease_name DISEASE_NAME:granulomatous_disease_chronic_autosomal_recessive_cytochrome_b_positive_type_1 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 Supplemental_disease_name DISEASE_NAME:granulomatous_disease_chronic_autosomal_recessive_cytochrome_b_positive_type_2 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Supplemental_disease_name DISEASE_NAME:granulomatous_disease_chronic_autosomal_recessive_cytochrome_b_positive_type_3 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 Supplemental_disease_name DISEASE_NAME:granulomatous_disease_chronic_x_linked Granulomatous disease, chronic, X-linked Supplemental_disease_name DISEASE_NAME:granulomatous_disease_chronic_x_linked_variant Granulomatous disease, chronic, X-linked, variant Supplemental_disease_name DISEASE_NAME:granulomatous_disease_chronic_x_linked_x_linked_mendelian_susceptibility_to_mycobacterial_diseases_due_to_cybb_deficiency Granulomatous disease, chronic, X-linked;X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Supplemental_disease_name DISEASE_NAME:grap_related_disorder GRAP-related disorder Supplemental_disease_name DISEASE_NAME:graves_disease_susceptibility_to_1 Graves disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:grb10_related_disorder GRB10-related disorder Supplemental_disease_name DISEASE_NAME:greb1l_related_disorder GREB1L-related disorder Supplemental_disease_name DISEASE_NAME:grebe_syndrome Grebe syndrome Supplemental_disease_name DISEASE_NAME:greek_hpfh Greek HPFH Supplemental_disease_name DISEASE_NAME:greenberg_dysplasia_pelger_huët_anomaly_regressive_spondylometaphyseal_dysplasia_reynolds_syndrome Greenberg dysplasia;Pelger-Huët anomaly;Regressive spondylometaphyseal dysplasia;Reynolds syndrome Supplemental_disease_name DISEASE_NAME:greenberg_dysplasia_regressive_spondylometaphyseal_dysplasia Greenberg dysplasia;Regressive spondylometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:greenberg_dysplasia_regressive_spondylometaphyseal_dysplasia_pelger_huët_anomaly_reynolds_syndrome Greenberg dysplasia;Regressive spondylometaphyseal dysplasia;Pelger-Huët anomaly;Reynolds syndrome Supplemental_disease_name DISEASE_NAME:greenberg_dysplasia_regressive_spondylometaphyseal_dysplasia_reynolds_syndrome_pelger_huët_anomaly Greenberg dysplasia;Regressive spondylometaphyseal dysplasia;Reynolds syndrome;Pelger-Huët anomaly Supplemental_disease_name DISEASE_NAME:greig_cephalopolysyndactyly_syndrome_pallister_hall_syndrome Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome Supplemental_disease_name DISEASE_NAME:greig_cephalopolysyndactyly_syndrome_pallister_hall_syndrome_polydactyly_postaxial_type_a1_polysyndactyly_4 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly, postaxial, type A1;Polysyndactyly 4 Supplemental_disease_name DISEASE_NAME:greig_cephalopolysyndactyly_syndrome_pallister_hall_syndrome_polysyndactyly_4_polydactyly_postaxial_type_a1 Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polysyndactyly 4;Polydactyly, postaxial, type A1 Supplemental_disease_name DISEASE_NAME:greig_cephalopolysyndactyly_syndrome_polydactyly_postaxial_type_a1_pallister_hall_syndrome_polysyndactyly_4 Greig cephalopolysyndactyly syndrome;Polydactyly, postaxial, type A1;Pallister-Hall syndrome;Polysyndactyly 4 Supplemental_disease_name DISEASE_NAME:greig_cephalopolysyndactyly_syndrome_polydactyly_postaxial_type_a1_polysyndactyly_4_pallister_hall_syndrome Greig cephalopolysyndactyly syndrome;Polydactyly, postaxial, type A1;Polysyndactyly 4;Pallister-Hall syndrome Supplemental_disease_name DISEASE_NAME:greig_cephalopolysyndactyly_syndrome_polysyndactyly_4_polydactyly_postaxial_type_a1_pallister_hall_syndrome Greig cephalopolysyndactyly syndrome;Polysyndactyly 4;Polydactyly, postaxial, type A1;Pallister-Hall syndrome Supplemental_disease_name DISEASE_NAME:greig_cephalopolysyndactyly_syndrome_severe Greig cephalopolysyndactyly syndrome, severe Supplemental_disease_name DISEASE_NAME:grem1_related_disorder GREM1-related disorder Supplemental_disease_name DISEASE_NAME:grem2_related_disorder GREM2-related disorder Supplemental_disease_name DISEASE_NAME:grhl2_related_disorder GRHL2-related disorder Supplemental_disease_name DISEASE_NAME:grhl3_related_disorder GRHL3-related disorder Supplemental_disease_name DISEASE_NAME:grhpr_related_disorder GRHPR-related disorder Supplemental_disease_name DISEASE_NAME:gria1_related_disorder GRIA1-related disorder Supplemental_disease_name DISEASE_NAME:gria2_related_disorder GRIA2-related disorder Supplemental_disease_name DISEASE_NAME:gria3_related_complex_neurodevelopmental_disorder GRIA3-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:gria3_related_disorder GRIA3-related disorder Supplemental_disease_name DISEASE_NAME:gria4_related_disorder GRIA4-related disorder Supplemental_disease_name DISEASE_NAME:gria4_related_neurodevelopmental_disorder GRIA4-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:grid1_associated_neurodevelopmental_disorder GRID1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:grid1_related_disorder GRID1-related disorder Supplemental_disease_name DISEASE_NAME:grid2_related_disorder GRID2-related disorder Supplemental_disease_name DISEASE_NAME:grik2_related_disorder GRIK2-related disorder Supplemental_disease_name DISEASE_NAME:grik2_related_neurodevelopmental_disorder GRIK2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:grik3_related_disorder GRIK3-related disorder Supplemental_disease_name DISEASE_NAME:grik5_related_disorder GRIK5-related disorder Supplemental_disease_name DISEASE_NAME:grin1_related_disorder GRIN1-related disorder Supplemental_disease_name DISEASE_NAME:grin2a_related_complex_neurodevelopmental_disorder GRIN2A-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:grin2a_related_disorders GRIN2A-Related Disorders Supplemental_disease_name DISEASE_NAME:grin2a_related_speech_disorders_and_epilepsy GRIN2A-Related Speech Disorders and Epilepsy Supplemental_disease_name DISEASE_NAME:grin2b_related_complex_neurodevelopmental_disorder GRIN2B-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:grin2b_related_disorder GRIN2B-related disorder Supplemental_disease_name DISEASE_NAME:grin2c_related_disorder GRIN2C-related disorder Supplemental_disease_name DISEASE_NAME:grin2d_related_disorder GRIN2D-related disorder Supplemental_disease_name DISEASE_NAME:grip1_related_disorder GRIP1-related disorder Supplemental_disease_name DISEASE_NAME:grk1_related_disorder GRK1-related disorder Supplemental_disease_name DISEASE_NAME:grk2_related_disorder GRK2-related disorder Supplemental_disease_name DISEASE_NAME:grk5_related_disorder GRK5-related disorder Supplemental_disease_name DISEASE_NAME:grm1_related_disorder GRM1-related disorder Supplemental_disease_name DISEASE_NAME:grm6_related_disorder GRM6-related disorder Supplemental_disease_name DISEASE_NAME:grm7_related_disorder GRM7-related disorder Supplemental_disease_name DISEASE_NAME:grm8_related_disorder GRM8-related disorder Supplemental_disease_name DISEASE_NAME:grn_related_disorder GRN-related disorder Supplemental_disease_name DISEASE_NAME:grn_related_frontotemporal_lobar_degeneration Grn-related frontotemporal lobar degeneration Supplemental_disease_name DISEASE_NAME:grn_related_frontotemporal_lobar_degeneration_with_tdp43_inclusions_neuronal_ceroid_lipofuscinosis_11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11 Supplemental_disease_name DISEASE_NAME:groenouw_corneal_dystrophy_type_i Groenouw corneal dystrophy type I Supplemental_disease_name DISEASE_NAME:growth_abnormality Growth abnormality Supplemental_disease_name DISEASE_NAME:growth_delay_due_to_insulin_like_growth_factor_i_resistance Growth delay due to insulin-like growth factor I resistance Supplemental_disease_name DISEASE_NAME:growth_delay_due_to_insulin_like_growth_factor_type_1_deficiency Growth delay due to insulin-like growth factor type 1 deficiency Supplemental_disease_name DISEASE_NAME:growth_delay_nephronophthisis Growth delay;Nephronophthisis Supplemental_disease_name DISEASE_NAME:growth_delay_short_stature Growth delay;Short stature Supplemental_disease_name DISEASE_NAME:growth_failure_in_early_childhood Growth failure in early childhood Supplemental_disease_name DISEASE_NAME:growth_hormone_deficiency Growth hormone deficiency Supplemental_disease_name DISEASE_NAME:growth_hormone_deficiency_with_pituitary_anomalies GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES Supplemental_disease_name DISEASE_NAME:growth_hormone_deficiency_with_pituitary_anomalies_septo_optic_dysplasia_sequence GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES;Septo-optic dysplasia sequence Supplemental_disease_name DISEASE_NAME:growth_hormone_insensitivity_syndrome Growth hormone insensitivity syndrome Supplemental_disease_name DISEASE_NAME:growth_hormone_insensitivity_syndrome_with_immune_dysregulation Growth hormone insensitivity syndrome with immune dysregulation Supplemental_disease_name DISEASE_NAME:growth_hormone_insensitivity_syndrome_with_immune_dysregulation_2_autosomal_dominant Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:growth_hormone_insensitivity_syndrome_with_immune_dysregulation_2_autosomal_dominant_growth_hormone_insensitivity_with_immune_dysregulation_1_autosomal_recessive Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant;Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Supplemental_disease_name DISEASE_NAME:growth_hormone_insensitivity_with_immune_dysregulation_1_autosomal_recessive Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Supplemental_disease_name DISEASE_NAME:growth_hormone_insensitivity_with_immune_dysregulation_1_autosomal_recessive_growth_hormone_insensitivity_syndrome_with_immune_dysregulation_2_autosomal_dominant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive;Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:growth_restriction_hypoplastic_kidneys_alopecia_and_distinctive_facies Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Supplemental_disease_name DISEASE_NAME:growth_retardation Growth retardation Supplemental_disease_name DISEASE_NAME:growth_retardation_intellectual_developmental_disorder_hypotonia_and_hepatopathy Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy Supplemental_disease_name DISEASE_NAME:grpr_related_disorder GRPR-related disorder Supplemental_disease_name DISEASE_NAME:grwd1_related_disorder GRWD1-related disorder Supplemental_disease_name DISEASE_NAME:grxcr1_related_disorder GRXCR1-related disorder Supplemental_disease_name DISEASE_NAME:grxcr2_related_disorder GRXCR2-related disorder Supplemental_disease_name DISEASE_NAME:gsc_related_disorder GSC-related disorder Supplemental_disease_name DISEASE_NAME:gsdme_related_disorder GSDME-related disorder Supplemental_disease_name DISEASE_NAME:gskip_related_disorder GSKIP-related disorder Supplemental_disease_name DISEASE_NAME:gsn_related_disorder GSN-related disorder Supplemental_disease_name DISEASE_NAME:gspt2_related_disorder GSPT2-related disorder Supplemental_disease_name DISEASE_NAME:gsr_related_disorder GSR-related disorder Supplemental_disease_name DISEASE_NAME:gss_related_disorder GSS-related disorder Supplemental_disease_name DISEASE_NAME:gstm1_related_disorder GSTM1-related disorder Supplemental_disease_name DISEASE_NAME:gsto1_related_disorder GSTO1-related disorder Supplemental_disease_name DISEASE_NAME:gstz1_related_disorder GSTZ1-related disorder Supplemental_disease_name DISEASE_NAME:gsx2_related_disorder GSX2-related disorder Supplemental_disease_name DISEASE_NAME:gtf2e2_related_disorder GTF2E2-related disorder Supplemental_disease_name DISEASE_NAME:gtf2h5_related_disorder GTF2H5-related disorder Supplemental_disease_name DISEASE_NAME:gtf2i_related_condition GTF2I related condition Supplemental_disease_name DISEASE_NAME:gtf2ird1_related_disorder GTF2IRD1-related disorder Supplemental_disease_name DISEASE_NAME:gtf3c3_related_disorder GTF3C3-related disorder Supplemental_disease_name DISEASE_NAME:gtp_cyclohydrolase_i_deficiency GTP cyclohydrolase I deficiency Supplemental_disease_name DISEASE_NAME:gtp_cyclohydrolase_i_deficiency_dystonia_5 GTP cyclohydrolase I deficiency;Dystonia 5 Supplemental_disease_name DISEASE_NAME:gtp_cyclohydrolase_i_deficiency_with_hyperphenylalaninemia GTP cyclohydrolase I deficiency with hyperphenylalaninemia Supplemental_disease_name DISEASE_NAME:gtp_cyclohydrolase_i_deficiency_with_hyperphenylalaninemia_dystonia_5 GTP cyclohydrolase I deficiency with hyperphenylalaninemia;Dystonia 5 Supplemental_disease_name DISEASE_NAME:gtpbp2_related_disorder GTPBP2-related disorder Supplemental_disease_name DISEASE_NAME:gtpbp3_related_disorder GTPBP3-related disorder Supplemental_disease_name DISEASE_NAME:guam_amyotrophic_lateral_sclerosis_parkinsonism_dementia_complex Guam amyotrophic lateral sclerosis/parkinsonism-dementia complex Supplemental_disease_name DISEASE_NAME:guanidinoacetate_methyltransferase_gamt_deficiency Guanidinoacetate Methyltransferase (GAMT) Deficiency Supplemental_disease_name DISEASE_NAME:guca1a_related_disorder GUCA1A-related disorder Supplemental_disease_name DISEASE_NAME:gucy1a1_related_disorder GUCY1A1-related disorder Supplemental_disease_name DISEASE_NAME:gucy2c_related_disorder GUCY2C-related disorder Supplemental_disease_name DISEASE_NAME:gucy2d_related_disorder GUCY2D-related disorder Supplemental_disease_name DISEASE_NAME:gucy2d_related_recessive_retinopathy GUCY2D-related recessive retinopathy Supplemental_disease_name DISEASE_NAME:gucy2d_retinopathy GUCY2D retinopathy Supplemental_disease_name DISEASE_NAME:guf1_related_disorder GUF1-related disorder Supplemental_disease_name DISEASE_NAME:guillouet_gordon_syndrome Guillouet-Gordon syndrome Supplemental_disease_name DISEASE_NAME:gusb_related_disorder GUSB-related disorder Supplemental_disease_name DISEASE_NAME:guttmacher_syndrome_hand_foot_genital_syndrome Guttmacher syndrome;Hand-foot-genital syndrome Supplemental_disease_name DISEASE_NAME:gxylt1_related_disorder GXYLT1-related disorder Supplemental_disease_name DISEASE_NAME:gyg1_related_disorder GYG1-related disorder Supplemental_disease_name DISEASE_NAME:gyg2_related_disorder GYG2-related disorder Supplemental_disease_name DISEASE_NAME:gypc_related_disorder GYPC-related disorder Supplemental_disease_name DISEASE_NAME:gyrate_atrophy_of_choroid_and_retina_with_pyridoxine_responsive_ornithinemia Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Supplemental_disease_name DISEASE_NAME:gys1_related_disorder GYS1-related disorder Supplemental_disease_name DISEASE_NAME:gys2_related_disorder GYS2-related disorder Supplemental_disease_name DISEASE_NAME:gzf1_related_disorder GZF1-related disorder Supplemental_disease_name DISEASE_NAME:h19_related_disorder H19-related disorder Supplemental_disease_name DISEASE_NAME:h1_4_related_disorder H1-4-related disorder Supplemental_disease_name DISEASE_NAME:h2bw1_related_disorder H2BW1-related disorder Supplemental_disease_name DISEASE_NAME:h3_3a_related_disorder H3-3A-related disorder Supplemental_disease_name DISEASE_NAME:h3_3b_related_disorder H3-3B-related disorder Supplemental_disease_name DISEASE_NAME:h3f3a_related_disorder H3F3A-related disorder Supplemental_disease_name DISEASE_NAME:h4c3_related_disorder H4C3-related disorder Supplemental_disease_name DISEASE_NAME:h4c5_related_disorder H4C5-related disorder Supplemental_disease_name DISEASE_NAME:h6pd_related_disorder H6PD-related disorder Supplemental_disease_name DISEASE_NAME:haao_related_disorder HAAO-related disorder Supplemental_disease_name DISEASE_NAME:habp2_related_disorder HABP2-related disorder Supplemental_disease_name DISEASE_NAME:hacd1_related_disorder HACD1-related disorder Supplemental_disease_name DISEASE_NAME:hace1_related_disorder HACE1-related disorder Supplemental_disease_name DISEASE_NAME:hace1_related_neurodevelopmental_disorder HACE1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:hacl1_related_disorder HACL1-related disorder Supplemental_disease_name DISEASE_NAME:haddad_syndrome Haddad syndrome Supplemental_disease_name DISEASE_NAME:hadh_related_disorder HADH-related disorder Supplemental_disease_name DISEASE_NAME:hadha_related_disorder HADHA-related disorder Supplemental_disease_name DISEASE_NAME:hadhb_related_disorder HADHB-related disorder Supplemental_disease_name DISEASE_NAME:haemophilia_b haemophilia B Supplemental_disease_name DISEASE_NAME:haemorrhagic_telangiectasia_1 Haemorrhagic telangiectasia 1 Supplemental_disease_name DISEASE_NAME:haemorrhagic_telangiectasia_2 Haemorrhagic telangiectasia 2 Supplemental_disease_name DISEASE_NAME:haim_munk_syndrome Haim-Munk syndrome Supplemental_disease_name DISEASE_NAME:haim_munk_syndrome_papillon_lefèvre_syndrome_periodontitis_aggressive Haim-Munk syndrome;Papillon-Lefèvre syndrome;Periodontitis, aggressive Supplemental_disease_name DISEASE_NAME:haim_munk_syndrome_periodontitis_aggressive_papillon_lefèvre_syndrome Haim-Munk syndrome;Periodontitis, aggressive;Papillon-Lefèvre syndrome Supplemental_disease_name DISEASE_NAME:hair_morphology_1_hair_thickness Hair morphology 1, hair thickness Supplemental_disease_name DISEASE_NAME:hajdu_cheney_syndrome_alagille_syndrome_due_to_a_notch2_point_mutation Hajdu-Cheney syndrome;Alagille syndrome due to a NOTCH2 point mutation Supplemental_disease_name DISEASE_NAME:hal_related_disorder HAL-related disorder Supplemental_disease_name DISEASE_NAME:halothane_response_toxicity halothane response - Toxicity Supplemental_disease_name DISEASE_NAME:hamartoma_dental_enamel_pits Hamartoma;Dental enamel pits Supplemental_disease_name DISEASE_NAME:hamartoma_tumor_syndrome hamartoma tumor syndrome Supplemental_disease_name DISEASE_NAME:hamartomatous_polyposis Hamartomatous polyposis Supplemental_disease_name DISEASE_NAME:hammertoe_distal_lower_limb_amyotrophy_myopathy_pes_cavus Hammertoe;Distal lower limb amyotrophy;Myopathy;Pes cavus Supplemental_disease_name DISEASE_NAME:hammertoe_progressive_muscle_weakness_lower_limb_muscle_weakness_difficulty_walking_inability_to_walk Hammertoe;Progressive muscle weakness;Lower limb muscle weakness;Difficulty walking;Inability to walk Supplemental_disease_name DISEASE_NAME:hamp_related_disorder HAMP-related disorder Supplemental_disease_name DISEASE_NAME:hanac_like_syndrome HANAC-like syndrome Supplemental_disease_name DISEASE_NAME:hand1_related_disorder HAND1-related disorder Supplemental_disease_name DISEASE_NAME:hand2_related_disorder HAND2-related disorder Supplemental_disease_name DISEASE_NAME:hand_foot_genital_syndrome_guttmacher_syndrome Hand-foot-genital syndrome;Guttmacher syndrome Supplemental_disease_name DISEASE_NAME:hand_muscle_atrophy Hand muscle atrophy Supplemental_disease_name DISEASE_NAME:hand_polydactyly Hand polydactyly Supplemental_disease_name DISEASE_NAME:hand_tremor_global_developmental_delay_seizure_macrocephaly_atypical_behavior Hand tremor;Global developmental delay;Seizure;Macrocephaly;Atypical behavior Supplemental_disease_name DISEASE_NAME:handgrip_myotonia_myotonia Handgrip myotonia;Myotonia Supplemental_disease_name DISEASE_NAME:hao_fountain_syndrome Hao-Fountain syndrome Supplemental_disease_name DISEASE_NAME:hao_fountain_syndrome_due_to_usp7_mutation Hao-Fountain syndrome due to USP7 mutation Supplemental_disease_name DISEASE_NAME:hap1_related_disorder HAP1-related disorder Supplemental_disease_name DISEASE_NAME:haptoglobin_alpha_1_fast_slow_polymorphism HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM Supplemental_disease_name DISEASE_NAME:haptoglobin_alpha_2 Haptoglobin, alpha-2 Supplemental_disease_name DISEASE_NAME:harderoporphyria Harderoporphyria Supplemental_disease_name DISEASE_NAME:harderoporphyria_hereditary_coproporphyria Harderoporphyria;Hereditary coproporphyria Supplemental_disease_name DISEASE_NAME:harel_yoon_syndrome_pontocerebellar_hypoplasia_hypotonia_and_respiratory_insufficiency_syndrome_neonatal_lethal Harel-Yoon syndrome;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal Supplemental_disease_name DISEASE_NAME:hars1_related_ataxia_condition HARS1-related ataxia condition Supplemental_disease_name DISEASE_NAME:hars1_related_disorder HARS1-related disorder Supplemental_disease_name DISEASE_NAME:hars1_related_multi_system_ataxia_syndrome HARS1-related multi-system ataxia syndrome Supplemental_disease_name DISEASE_NAME:hars2_related_disorder HARS2-related disorder Supplemental_disease_name DISEASE_NAME:hartsfield_bixler_demyer_syndrome Hartsfield-Bixler-Demyer syndrome Supplemental_disease_name DISEASE_NAME:hartsfield_bixler_demyer_syndrome_cerebellar_vermis_hypoplasia Hartsfield-Bixler-Demyer syndrome;Cerebellar vermis hypoplasia Supplemental_disease_name DISEASE_NAME:hartsfield_bixler_demyer_syndrome_osteoglophonic_dysplasia_hypogonadotropic_hypogonadism_2_with_or_without_anosmia Hartsfield-Bixler-Demyer syndrome;Osteoglophonic dysplasia;Hypogonadotropic hypogonadism 2 with or without anosmia Supplemental_disease_name DISEASE_NAME:hartsfield_syndrome Hartsfield syndrome Supplemental_disease_name DISEASE_NAME:hashimoto_thyroiditis_susceptibility_to Hashimoto thyroiditis, susceptibility to Supplemental_disease_name DISEASE_NAME:hatipoglu_immunodeficiency_syndrome Hatipoglu immunodeficiency syndrome Supplemental_disease_name DISEASE_NAME:haus1_related_condition HAUS1-related condition Supplemental_disease_name DISEASE_NAME:havcr1_related_disorder HAVCR1-related disorder Supplemental_disease_name DISEASE_NAME:havcr2_related_disorder HAVCR2-related disorder Supplemental_disease_name DISEASE_NAME:hawkinsinuria_tyrosinemia_type_iii Hawkinsinuria;Tyrosinemia type III Supplemental_disease_name DISEASE_NAME:hax1_related_disorder HAX1-related disorder Supplemental_disease_name DISEASE_NAME:hb_d_los_angeles Hb D-Los Angeles Supplemental_disease_name DISEASE_NAME:hb_ss_disease Hb SS disease Supplemental_disease_name DISEASE_NAME:hba1_related_disorder HBA1-related disorder Supplemental_disease_name DISEASE_NAME:hba2_related_alpha_thalassemia_spectrum HBA2-related alpha thalassemia spectrum Supplemental_disease_name DISEASE_NAME:hba2_related_disorder HBA2-related disorder Supplemental_disease_name DISEASE_NAME:hbb_related_disorder HBB-related disorder Supplemental_disease_name DISEASE_NAME:hbb_related_hemoglobinopathies HBB-related hemoglobinopathies Supplemental_disease_name DISEASE_NAME:hbd_related_disorder HBD-related disorder Supplemental_disease_name DISEASE_NAME:hbe1_related_disorder HBE1-related disorder Supplemental_disease_name DISEASE_NAME:hbg1_polymorphism HBG1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:hbg1_related_disorder HBG1-related disorder Supplemental_disease_name DISEASE_NAME:hccs_related_disorder HCCS-related disorder Supplemental_disease_name DISEASE_NAME:hcfc1_related_disorder HCFC1-related disorder Supplemental_disease_name DISEASE_NAME:hcfc1_related_disorders HCFC1-related disorders Supplemental_disease_name DISEASE_NAME:hck_related_condition HCK-related condition Supplemental_disease_name DISEASE_NAME:hcn1_related_disorder HCN1-related disorder Supplemental_disease_name DISEASE_NAME:hcn2_associated_epilepsy_syndrome HCN2-associated Epilepsy syndrome Supplemental_disease_name DISEASE_NAME:hcn2_related_developmental_and_epileptic_encephalopathy HCN2 related developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:hcn2_related_disorder HCN2-related disorder Supplemental_disease_name DISEASE_NAME:hcn4_related_disorder HCN4-related disorder Supplemental_disease_name DISEASE_NAME:hcrt_related_disorder HCRT-related disorder Supplemental_disease_name DISEASE_NAME:hcrtr2_related_disorder HCRTR2-related disorder Supplemental_disease_name DISEASE_NAME:hdac1_related_disorder HDAC1-related disorder Supplemental_disease_name DISEASE_NAME:hdac2_related_disorder HDAC2-related disorder Supplemental_disease_name DISEASE_NAME:hdac3_related_disorder HDAC3-related disorder Supplemental_disease_name DISEASE_NAME:hdac4_related_disorder HDAC4-related disorder Supplemental_disease_name DISEASE_NAME:hdac6_related_disorder HDAC6-related disorder Supplemental_disease_name DISEASE_NAME:hdac8_related_disorder HDAC8-related disorder Supplemental_disease_name DISEASE_NAME:hdc_related_disorder HDC-related disorder Supplemental_disease_name DISEASE_NAME:hdlbp_related_disorder HDLBP-related disorder Supplemental_disease_name DISEASE_NAME:hearing_impairment Hearing impairment Supplemental_disease_name DISEASE_NAME:hearing_impairment_aganglionosis_total_intestinal Hearing impairment;Aganglionosis, total intestinal Supplemental_disease_name DISEASE_NAME:hearing_impairment_bilateral_conductive_hearing_impairment Hearing impairment;Bilateral conductive hearing impairment Supplemental_disease_name DISEASE_NAME:hearing_impairment_bilateral_sensorineural_hearing_impairment Hearing impairment;Bilateral sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:hearing_impairment_cognitive_impairment_plagiocephaly Hearing impairment;Cognitive impairment;Plagiocephaly Supplemental_disease_name DISEASE_NAME:hearing_impairment_generalized_hypotonia Hearing impairment;Generalized hypotonia Supplemental_disease_name DISEASE_NAME:hearing_impairment_increased_susceptibility_to_fractures_diarrhea_unc45a_associated_cholestasis Hearing impairment;Increased susceptibility to fractures;Diarrhea;UNC45A-associated Cholestasis Supplemental_disease_name DISEASE_NAME:hearing_impairment_neurodevelopmental_delay_hypothyroidism Hearing impairment;Neurodevelopmental delay;Hypothyroidism Supplemental_disease_name DISEASE_NAME:hearing_impairment_proteinuria_hematuria Hearing impairment;Proteinuria;Hematuria Supplemental_disease_name DISEASE_NAME:hearing_impairment_short_stature_oromandibular_dystonia_cerebellar_ataxia_difficulty_walking Hearing impairment;Short stature;Oromandibular dystonia;Cerebellar ataxia;Difficulty walking Supplemental_disease_name DISEASE_NAME:hearing_loss Hearing loss Supplemental_disease_name DISEASE_NAME:hearing_loss_and_retinal_dystrophy Hearing loss and Retinal dystrophy Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_34_with_or_without_inflammation Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_34_with_or_without_inflammation_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1 Hearing loss, autosomal dominant 34, with or without inflammation;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1 Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_cold_autoinflammatory_syndrome_1 Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome_keratitis_fugax_hereditaria_familial_amyloid_nephropathy_with_urticaria_and_deafness Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome;Keratitis fugax hereditaria;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1 Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_34_with_or_without_inflammation_keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness Hearing loss, autosomal dominant 34, with or without inflammation;Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37 Hearing loss, autosomal dominant 37 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_fibrochondrogenesis_1_intervertebral_disc_disorder_marshall_syndrome_stickler_syndrome_type_2 Hearing loss, autosomal dominant 37;Fibrochondrogenesis 1;Intervertebral disc disorder;Marshall syndrome;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_fibrochondrogenesis_1_stickler_syndrome_type_2_marshall_syndrome_intervertebral_disc_disorder Hearing loss, autosomal dominant 37;Fibrochondrogenesis 1;Stickler syndrome type 2;Marshall syndrome;Intervertebral disc disorder Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_intervertebral_disc_disorder_marshall_syndrome_fibrochondrogenesis_1_stickler_syndrome_type_2 Hearing loss, autosomal dominant 37;Intervertebral disc disorder;Marshall syndrome;Fibrochondrogenesis 1;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_intervertebral_disc_disorder_marshall_syndrome_stickler_syndrome_type_2_fibrochondrogenesis_1 Hearing loss, autosomal dominant 37;Intervertebral disc disorder;Marshall syndrome;Stickler syndrome type 2;Fibrochondrogenesis 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_marshall_syndrome_fibrochondrogenesis_1_intervertebral_disc_disorder_stickler_syndrome_type_2 Hearing loss, autosomal dominant 37;Marshall syndrome;Fibrochondrogenesis 1;Intervertebral disc disorder;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_marshall_syndrome_intervertebral_disc_disorder_stickler_syndrome_type_2_fibrochondrogenesis_1 Hearing loss, autosomal dominant 37;Marshall syndrome;Intervertebral disc disorder;Stickler syndrome type 2;Fibrochondrogenesis 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_stickler_syndrome_type_2_intervertebral_disc_disorder_marshall_syndrome_fibrochondrogenesis_1 Hearing loss, autosomal dominant 37;Stickler syndrome type 2;Intervertebral disc disorder;Marshall syndrome;Fibrochondrogenesis 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_stickler_syndrome_type_2_marshall_syndrome Hearing loss, autosomal dominant 37;Stickler syndrome type 2;Marshall syndrome Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_stickler_syndrome_type_2_marshall_syndrome_fibrochondrogenesis_1 Hearing loss, autosomal dominant 37;Stickler syndrome type 2;Marshall syndrome;Fibrochondrogenesis 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_37_stickler_syndrome_type_2_marshall_syndrome_intervertebral_disc_disorder_fibrochondrogenesis_1 Hearing loss, autosomal dominant 37;Stickler syndrome type 2;Marshall syndrome;Intervertebral disc disorder;Fibrochondrogenesis 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_71 Hearing loss, autosomal dominant 71 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_71_developmental_and_epileptic_encephalopathy_81_polyendocrine_polyneuropathy_syndrome Hearing loss, autosomal dominant 71;Developmental and epileptic encephalopathy, 81;Polyendocrine-polyneuropathy syndrome Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_72 Hearing loss, autosomal dominant 72 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_73 Hearing loss, autosomal dominant 73 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_73_autosomal_recessive_nonsyndromic_hearing_loss_84a Hearing loss, autosomal dominant 73;Autosomal recessive nonsyndromic hearing loss 84A Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_74 Hearing loss, autosomal dominant 74 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_75 Hearing loss, autosomal dominant 75 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_75_developmental_delay_with_or_without_dysmorphic_facies_and_autism Hearing loss, autosomal dominant 75;Developmental delay with or without dysmorphic facies and autism Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_76 Hearing loss, autosomal dominant 76 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_77 Hearing loss, autosomal dominant 77 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_78 Hearing loss, autosomal dominant 78 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_78_delpire_mcneill_syndrome_kilquist_syndrome Hearing loss, autosomal dominant 78;Delpire-McNeill syndrome;Kilquist syndrome Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_78_kilquist_syndrome_delpire_mcneill_syndrome Hearing loss, autosomal dominant 78;Kilquist syndrome;Delpire-McNeill syndrome Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_79 Hearing loss, autosomal dominant 79 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_80 Hearing loss, autosomal dominant 80 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_81 Hearing loss, autosomal dominant 81 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_81_autosomal_recessive_nonsyndromic_hearing_loss_88 Hearing loss, autosomal dominant 81;Autosomal recessive nonsyndromic hearing loss 88 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_82 Hearing loss, autosomal dominant 82 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_83 Hearing loss, autosomal dominant 83 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_83_periventricular_nodular_heterotopia_9 Hearing loss, autosomal dominant 83;Periventricular nodular heterotopia 9 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_84 Hearing loss, autosomal dominant 84 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_85 Hearing loss, autosomal dominant 85 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_86 Hearing loss, autosomal dominant 86 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_87 Hearing loss, autosomal dominant 87 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_88 Hearing loss, autosomal dominant 88 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_89 Hearing loss, autosomal dominant 89 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_90 Hearing loss, autosomal dominant 90 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_90_autosomal_recessive_nonsyndromic_hearing_loss_30 Hearing loss, autosomal dominant 90;Autosomal recessive nonsyndromic hearing loss 30 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive Hearing loss, autosomal recessive Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_100 Hearing loss, autosomal recessive 100 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_106 Hearing loss, autosomal recessive 106 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_107 Hearing loss, autosomal recessive 107 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_108 Hearing loss, autosomal recessive 108 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_109 Hearing loss, autosomal recessive 109 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_110 Hearing loss, autosomal recessive 110 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_110_autosomal_dominant_nonsyndromic_hearing_loss_9 Hearing loss, autosomal recessive 110;Autosomal dominant nonsyndromic hearing loss 9 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_111 Hearing loss, autosomal recessive 111 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_112 Hearing loss, autosomal recessive 112 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_113 Hearing loss, autosomal recessive 113 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_113_autosomal_dominant_nonsyndromic_hearing_loss_4b Hearing loss, autosomal recessive 113;Autosomal dominant nonsyndromic hearing loss 4B Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_114 Hearing loss, autosomal recessive 114 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_115 Hearing loss, autosomal recessive 115 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_116 Hearing loss, autosomal recessive 116 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_117 Hearing loss, autosomal recessive 117 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_118_with_cochlear_aplasia Hearing loss, autosomal recessive 118, with cochlear aplasia Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_119 Hearing loss, autosomal recessive 119 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_119_neurodevelopmental_disorder_with_hearing_loss_and_spasticity Hearing loss, autosomal recessive 119;Neurodevelopmental disorder with hearing loss and spasticity Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_120 Hearing loss, autosomal recessive 120 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_121 Hearing loss, autosomal recessive 121 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_122 Hearing loss, autosomal recessive 122 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_123 Hearing loss, autosomal recessive 123 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_125 Hearing loss, autosomal recessive 125 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_57 Hearing loss, autosomal recessive 57 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_57_usher_syndrome_type_2a_usher_syndrome_type_2c Hearing loss, autosomal recessive 57;Usher syndrome type 2A;Usher syndrome type 2C Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_57_usher_syndrome_type_2c_usher_syndrome_type_2a Hearing loss, autosomal recessive 57;Usher syndrome type 2C;Usher syndrome type 2A Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_57_usher_syndrome_type_iic_gpr98_pdzd7_digenic Hearing loss, autosomal recessive 57;Usher syndrome, type IIC, GPR98/PDZD7 digenic Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_94 Hearing loss, autosomal recessive 94 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_94_combined_oxidative_phosphorylation_defect_type_24 Hearing loss, autosomal recessive 94;Combined oxidative phosphorylation defect type 24 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_99 Hearing loss, autosomal recessive 99 Supplemental_disease_name DISEASE_NAME:hearing_loss_retinal_dystrophy Hearing loss;Retinal dystrophy Supplemental_disease_name DISEASE_NAME:hearing_loss_sensorineural_autosomal_mitochondrial_type Hearing loss, sensorineural, autosomal-mitochondrial type Supplemental_disease_name DISEASE_NAME:hearing_loss_x_linked_1 Hearing loss, X-linked 1 Supplemental_disease_name DISEASE_NAME:hearing_loss_x_linked_4 Hearing loss, X-linked 4 Supplemental_disease_name DISEASE_NAME:hearing_loss_x_linked_6 Hearing loss, X-linked 6 Supplemental_disease_name DISEASE_NAME:heart_and_brain_malformation_syndrome Heart and brain malformation syndrome Supplemental_disease_name DISEASE_NAME:heart_block_nonprogressive HEART BLOCK, NONPROGRESSIVE Supplemental_disease_name DISEASE_NAME:heart_defect_tongue_hamartoma_polysyndactyly_syndrome_bardet_biedl_syndrome_15 Heart defect - tongue hamartoma - polysyndactyly syndrome;Bardet-Biedl syndrome 15 Supplemental_disease_name DISEASE_NAME:heart_dysfunction Heart dysfunction Supplemental_disease_name DISEASE_NAME:heart_failure Heart failure Supplemental_disease_name DISEASE_NAME:heart_failure_cardiomyopathy_long_qt_syndrome Heart failure;Cardiomyopathy;Long QT syndrome Supplemental_disease_name DISEASE_NAME:heart_failure_primary_dilated_cardiomyopathy Heart failure;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:heart_hand_syndrome_slovenian_type Heart-hand syndrome, Slovenian type Supplemental_disease_name DISEASE_NAME:heatr5b_associated_pontocerebellar_hypoplasia HEATR5B-associated Pontocerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:heatr5b_related_disorder HEATR5B-related disorder Supplemental_disease_name DISEASE_NAME:hecht_syndrome_carney_complex_trismus_pseudocamptodactyly_syndrome Hecht syndrome;Carney complex - trismus - pseudocamptodactyly syndrome Supplemental_disease_name DISEASE_NAME:hectd1_associated_neurodevelopmental_disorder HECTD1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:hectd1_related_disorder HECTD1-related disorder Supplemental_disease_name DISEASE_NAME:hectd4_related_disorder HECTD4-related disorder Supplemental_disease_name DISEASE_NAME:hecw2_related_disorder HECW2-related disorder Supplemental_disease_name DISEASE_NAME:hecw2_related_neurodevelopmental_disorder HECW2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:heimler_syndrome Heimler syndrome Supplemental_disease_name DISEASE_NAME:heimler_syndrome_1_peroxisome_biogenesis_disorder_1a_zellweger Heimler syndrome 1;Peroxisome biogenesis disorder 1A (Zellweger) Supplemental_disease_name DISEASE_NAME:heimler_syndrome_1_peroxisome_biogenesis_disorder_1a_zellweger_peroxisome_biogenesis_disorder_1b Heimler syndrome 1;Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B Supplemental_disease_name DISEASE_NAME:heimler_syndrome_1_peroxisome_biogenesis_disorder_1b_peroxisome_biogenesis_disorder_1a_zellweger Heimler syndrome 1;Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorder 1A (Zellweger) Supplemental_disease_name DISEASE_NAME:heimler_syndrome_2_peroxisome_biogenesis_disorder_4a_zellweger_peroxisome_biogenesis_disorder_4b Heimler syndrome 2;Peroxisome biogenesis disorder 4A (Zellweger);Peroxisome biogenesis disorder 4B Supplemental_disease_name DISEASE_NAME:heimler_syndrome_2_peroxisome_biogenesis_disorder_4b_peroxisome_biogenesis_disorder_4a_zellweger Heimler syndrome 2;Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger) Supplemental_disease_name DISEASE_NAME:heinz_body_anemia_alpha_thalassemia_erythrocytosis_familial_7_hemoglobin_h_disease Heinz body anemia;alpha Thalassemia;Erythrocytosis, familial, 7;Hemoglobin H disease Supplemental_disease_name DISEASE_NAME:heinz_body_anemia_alpha_thalassemia_erythrocytosis_familial_7_hemoglobin_h_disease_methemoglobinemia_alpha_type Heinz body anemia;alpha Thalassemia;Erythrocytosis, familial, 7;Hemoglobin H disease;Methemoglobinemia, alpha type Supplemental_disease_name DISEASE_NAME:heinz_body_anemia_alpha_thalassemia_hemoglobin_h_disease_methemoglobinemia_alpha_type_erythrocytosis_familial_7 Heinz body anemia;alpha Thalassemia;Hemoglobin H disease;Methemoglobinemia, alpha type;Erythrocytosis, familial, 7 Supplemental_disease_name DISEASE_NAME:heinz_body_anemia_erythrocytosis_familial_7_alpha_thalassemia_hemoglobin_h_disease Heinz body anemia;Erythrocytosis, familial, 7;alpha Thalassemia;Hemoglobin H disease Supplemental_disease_name DISEASE_NAME:heinz_body_anemia_hemoglobin_h_disease_alpha_thalassemia_erythrocytosis_familial_7 Heinz body anemia;Hemoglobin H disease;alpha Thalassemia;Erythrocytosis, familial, 7 Supplemental_disease_name DISEASE_NAME:heinz_body_anemia_hemoglobin_h_disease_erythrocytosis_familial_7_alpha_thalassemia Heinz body anemia;Hemoglobin H disease;Erythrocytosis, familial, 7;alpha Thalassemia Supplemental_disease_name DISEASE_NAME:helicobacter_pylori_infection_susceptibility_to Helicobacter pylori infection, susceptibility to Supplemental_disease_name DISEASE_NAME:helicobacter_pylori_infection_susceptibility_to_autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency_immunodeficiency_27a Helicobacter pylori infection, susceptibility to;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;Immunodeficiency 27A Supplemental_disease_name DISEASE_NAME:helicobacter_pylori_infection_susceptibility_to_hepatitis_b_virus_susceptibility_to_immunodeficiency_27a_autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency_mycobacterium_tuberculosis_susceptibility_to Helicobacter pylori infection, susceptibility to;Hepatitis B virus, susceptibility to;Immunodeficiency 27A;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;Mycobacterium tuberculosis, susceptibility to Supplemental_disease_name DISEASE_NAME:helicobacter_pylori_infection_susceptibility_to_immunodeficiency_27a_mycobacterium_tuberculosis_susceptibility_to_autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency_hepatitis_b_virus_susceptibility_to Helicobacter pylori infection, susceptibility to;Immunodeficiency 27A;Mycobacterium tuberculosis, susceptibility to;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;Hepatitis B virus, susceptibility to Supplemental_disease_name DISEASE_NAME:helicobacter_pylori_infection_susceptibility_to_mycobacterium_tuberculosis_susceptibility_to_hepatitis_b_virus_susceptibility_to_autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency_immunodeficiency_27a Helicobacter pylori infection, susceptibility to;Mycobacterium tuberculosis, susceptibility to;Hepatitis B virus, susceptibility to;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;Immunodeficiency 27A Supplemental_disease_name DISEASE_NAME:hells_related_disorder HELLS-related disorder Supplemental_disease_name DISEASE_NAME:helq_related_disorder HELQ-related disorder Supplemental_disease_name DISEASE_NAME:hemangioma_blepharophimosis_abnormal_facial_shape_ptosis Hemangioma;Blepharophimosis;Abnormal facial shape;Ptosis Supplemental_disease_name DISEASE_NAME:hemangioma_facial_hemangioma_seizure Hemangioma;Facial hemangioma;Seizure Supplemental_disease_name DISEASE_NAME:hemangiomatosis Hemangiomatosis Supplemental_disease_name DISEASE_NAME:hematologic_neoplasm_thrombocytopenia Hematologic neoplasm;Thrombocytopenia Supplemental_disease_name DISEASE_NAME:hematuria Hematuria Supplemental_disease_name DISEASE_NAME:hematuria_benign_familial_1 Hematuria, benign familial, 1 Supplemental_disease_name DISEASE_NAME:hematuria_benign_familial_1_autosomal_recessive_alport_syndrome Hematuria, benign familial, 1;Autosomal recessive Alport syndrome Supplemental_disease_name DISEASE_NAME:hematuria_benign_familial_2 Hematuria, benign familial, 2 Supplemental_disease_name DISEASE_NAME:hematuria_benign_familial_2_alport_syndrome_3b_autosomal_recessive_autosomal_dominant_alport_syndrome Hematuria, benign familial, 2;Alport syndrome 3b, autosomal recessive;Autosomal dominant Alport syndrome Supplemental_disease_name DISEASE_NAME:hematuria_benign_familial_2_autosomal_dominant_alport_syndrome_alport_syndrome_3b_autosomal_recessive Hematuria, benign familial, 2;Autosomal dominant Alport syndrome;Alport syndrome 3b, autosomal recessive Supplemental_disease_name DISEASE_NAME:hematuria_glomerulopathy Hematuria;Glomerulopathy Supplemental_disease_name DISEASE_NAME:hematuria_proteinuria Hematuria;Proteinuria Supplemental_disease_name DISEASE_NAME:heme_oxygenase_1_deficiency Heme oxygenase 1 deficiency Supplemental_disease_name DISEASE_NAME:heme_oxygenase_1_deficiency_chronic_obstructive_pulmonary_disease Heme oxygenase 1 deficiency;Chronic obstructive pulmonary disease Supplemental_disease_name DISEASE_NAME:heme_oxygenase_1_deficiency_copd_severe_early_onset Heme oxygenase 1 deficiency;COPD, severe early onset Supplemental_disease_name DISEASE_NAME:hemifacial_myohyperplasia Hemifacial myohyperplasia Supplemental_disease_name DISEASE_NAME:hemifacial_myohyperplasia_somatic HEMIFACIAL MYOHYPERPLASIA, SOMATIC Supplemental_disease_name DISEASE_NAME:hemihypertrophy Hemihypertrophy Supplemental_disease_name DISEASE_NAME:hemimegalencephaly Hemimegalencephaly Supplemental_disease_name DISEASE_NAME:hemiparkinsonism_hemiatrophy_syndrome Hemiparkinsonism-hemiatrophy syndrome Supplemental_disease_name DISEASE_NAME:hemiplegia_epilepsy Hemiplegia;Epilepsy Supplemental_disease_name DISEASE_NAME:hemiplegia_hemiparesis Hemiplegia/hemiparesis Supplemental_disease_name DISEASE_NAME:hemiplegia_oculogyric_crisis_global_developmental_delay Hemiplegia;Oculogyric crisis;Global developmental delay Supplemental_disease_name DISEASE_NAME:hemiplegic_migraine_developmental_and_epileptic_encephalopathy_spectrum Hemiplegic migraine-developmental and epileptic encephalopathy spectrum Supplemental_disease_name DISEASE_NAME:hemivertebrae_rib_fusion Hemivertebrae;Rib fusion Supplemental_disease_name DISEASE_NAME:hemochromatosis_juvenile_digenic Hemochromatosis, juvenile, digenic Supplemental_disease_name DISEASE_NAME:hemochromatosis_type_1_modifier_of Hemochromatosis, type 1, modifier of Supplemental_disease_name DISEASE_NAME:hemochromatosis_type_2a_modifier_of Hemochromatosis, type 2a, modifier of Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_adria HEMOGLOBIN A(2) ADRIA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_agrinio HEMOGLOBIN A(2) AGRINIO Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_babinga HEMOGLOBIN A(2) BABINGA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_campania HEMOGLOBIN A(2) CAMPANIA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_canada HEMOGLOBIN A(2) CANADA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_capri HEMOGLOBIN A(2) CAPRI Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_coburg HEMOGLOBIN A(2) COBURG Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_corfu HEMOGLOBIN A(2) CORFU Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_fitzroy HEMOGLOBIN A(2) FITZROY Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_flatbush HEMOGLOBIN A(2) FLATBUSH Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_grovetown HEMOGLOBIN A(2) GROVETOWN Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_honai HEMOGLOBIN A(2) HONAI Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_indonesia HEMOGLOBIN A(2) INDONESIA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_lucania HEMOGLOBIN A(2) LUCANIA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_manzanares HEMOGLOBIN A(2) MANZANARES Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_melbourne HEMOGLOBIN A(2) MELBOURNE Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_metaponto HEMOGLOBIN A(2) METAPONTO Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_monreale HEMOGLOBIN A(2) MONREALE Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_niigata HEMOGLOBIN A(2) NIIGATA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_ninive HEMOGLOBIN A(2) NINIVE Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_nyu HEMOGLOBIN A(2) NYU Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_parkville HEMOGLOBIN A(2) PARKVILLE Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_pelendri HEMOGLOBIN A(2) PELENDRI Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_prime HEMOGLOBIN A(2)-PRIME Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_puglia HEMOGLOBIN A(2) PUGLIA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_roosevelt HEMOGLOBIN A(2) ROOSEVELT Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_sant_antioco HEMOGLOBIN A(2) SANT' ANTIOCO Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_sphakia HEMOGLOBIN A(2) SPHAKIA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_troodos HEMOGLOBIN A(2) TROODOS Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_victoria HEMOGLOBIN A(2) VICTORIA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_wrens HEMOGLOBIN A(2) WRENS Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_yialousa HEMOGLOBIN A(2) YIALOUSA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_yokoshima HEMOGLOBIN A(2) YOKOSHIMA Supplemental_disease_name DISEASE_NAME:hemoglobin_a_2_zagreb HEMOGLOBIN A(2) ZAGREB Supplemental_disease_name DISEASE_NAME:hemoglobin_aalborg HEMOGLOBIN AALBORG Supplemental_disease_name DISEASE_NAME:hemoglobin_aarbizon Hemoglobin Aarbizon Supplemental_disease_name DISEASE_NAME:hemoglobin_abraham_lincoln HEMOGLOBIN ABRAHAM LINCOLN Supplemental_disease_name DISEASE_NAME:hemoglobin_abruzzo HEMOGLOBIN ABRUZZO Supplemental_disease_name DISEASE_NAME:hemoglobin_adana HEMOGLOBIN ADANA Supplemental_disease_name DISEASE_NAME:hemoglobin_agenogi HEMOGLOBIN AGENOGI Supplemental_disease_name DISEASE_NAME:hemoglobin_aghia_sophia HEMOGLOBIN AGHIA SOPHIA Supplemental_disease_name DISEASE_NAME:hemoglobin_agrinio HEMOGLOBIN AGRINIO Supplemental_disease_name DISEASE_NAME:hemoglobin_aichi HEMOGLOBIN AICHI Supplemental_disease_name DISEASE_NAME:hemoglobin_aida HEMOGLOBIN AIDA Supplemental_disease_name DISEASE_NAME:hemoglobin_al_ain_abu_dhabi HEMOGLOBIN AL-AIN ABU DHABI Supplemental_disease_name DISEASE_NAME:hemoglobin_al_hammadi_riyadh HEMOGLOBIN AL-HAMMADI RIYADH Supplemental_disease_name DISEASE_NAME:hemoglobin_alabama HEMOGLOBIN ALABAMA Supplemental_disease_name DISEASE_NAME:hemoglobin_alamo HEMOGLOBIN ALAMO Supplemental_disease_name DISEASE_NAME:hemoglobin_albany_georgia HEMOGLOBIN ALBANY-GEORGIA Supplemental_disease_name DISEASE_NAME:hemoglobin_albany_suma HEMOGLOBIN ALBANY-SUMA Supplemental_disease_name DISEASE_NAME:hemoglobin_alberta HEMOGLOBIN ALBERTA Supplemental_disease_name DISEASE_NAME:hemoglobin_alesha HEMOGLOBIN ALESHA Supplemental_disease_name DISEASE_NAME:hemoglobin_altdorf HEMOGLOBIN ALTDORF Supplemental_disease_name DISEASE_NAME:hemoglobin_anamosa HEMOGLOBIN ANAMOSA Supplemental_disease_name DISEASE_NAME:hemoglobin_anantharaj HEMOGLOBIN ANANTHARAJ Supplemental_disease_name DISEASE_NAME:hemoglobin_andrew_minneapolis Hemoglobin Andrew-Minneapolis Supplemental_disease_name DISEASE_NAME:hemoglobin_ankara HEMOGLOBIN ANKARA Supplemental_disease_name DISEASE_NAME:hemoglobin_ann_arbor HEMOGLOBIN ANN ARBOR Supplemental_disease_name DISEASE_NAME:hemoglobin_antalya HEMOGLOBIN ANTALYA Supplemental_disease_name DISEASE_NAME:hemoglobin_antananarivo HEMOGLOBIN ANTANANARIVO Supplemental_disease_name DISEASE_NAME:hemoglobin_arta HEMOGLOBIN ARTA Supplemental_disease_name DISEASE_NAME:hemoglobin_arya HEMOGLOBIN ARYA Supplemental_disease_name DISEASE_NAME:hemoglobin_asabara HEMOGLOBIN ASABARA Supplemental_disease_name DISEASE_NAME:hemoglobin_atago HEMOGLOBIN ATAGO Supplemental_disease_name DISEASE_NAME:hemoglobin_athens_georgia HEMOGLOBIN ATHENS-GEORGIA Supplemental_disease_name DISEASE_NAME:hemoglobin_atlanta HEMOGLOBIN ATLANTA Supplemental_disease_name DISEASE_NAME:hemoglobin_atlanta_coventry HEMOGLOBIN ATLANTA-COVENTRY Supplemental_disease_name DISEASE_NAME:hemoglobin_attleboro Hemoglobin Attleboro Supplemental_disease_name DISEASE_NAME:hemoglobin_aubagne HEMOGLOBIN AUBAGNE Supplemental_disease_name DISEASE_NAME:hemoglobin_auckland HEMOGLOBIN AUCKLAND Supplemental_disease_name DISEASE_NAME:hemoglobin_aurora HEMOGLOBIN AURORA Supplemental_disease_name DISEASE_NAME:hemoglobin_austin HEMOGLOBIN AUSTIN Supplemental_disease_name DISEASE_NAME:hemoglobin_avicenna HEMOGLOBIN AVICENNA Supplemental_disease_name DISEASE_NAME:hemoglobin_aztec HEMOGLOBIN AZTEC Supplemental_disease_name DISEASE_NAME:hemoglobin_b_2 HEMOGLOBIN B(2) Supplemental_disease_name DISEASE_NAME:hemoglobin_bab_saadoun HEMOGLOBIN BAB-SAADOUN Supplemental_disease_name DISEASE_NAME:hemoglobin_baden HEMOGLOBIN BADEN Supplemental_disease_name DISEASE_NAME:hemoglobin_barbizon HEMOGLOBIN BARBIZON Supplemental_disease_name DISEASE_NAME:hemoglobin_barcelona HEMOGLOBIN BARCELONA Supplemental_disease_name DISEASE_NAME:hemoglobin_bari HEMOGLOBIN BARI Supplemental_disease_name DISEASE_NAME:hemoglobin_baylor HEMOGLOBIN BAYLOR Supplemental_disease_name DISEASE_NAME:hemoglobin_beckman HEMOGLOBIN BECKMAN Supplemental_disease_name DISEASE_NAME:hemoglobin_beijing Hemoglobin Beijing Supplemental_disease_name DISEASE_NAME:hemoglobin_beilinson HEMOGLOBIN BEILINSON Supplemental_disease_name DISEASE_NAME:hemoglobin_beirut HEMOGLOBIN BEIRUT Supplemental_disease_name DISEASE_NAME:hemoglobin_belfast HEMOGLOBIN BELFAST Supplemental_disease_name DISEASE_NAME:hemoglobin_belliard HEMOGLOBIN BELLIARD Supplemental_disease_name DISEASE_NAME:hemoglobin_beograd HEMOGLOBIN BEOGRAD Supplemental_disease_name DISEASE_NAME:hemoglobin_beth_israel HEMOGLOBIN BETH ISRAEL Supplemental_disease_name DISEASE_NAME:hemoglobin_bethesda HEMOGLOBIN BETHESDA Supplemental_disease_name DISEASE_NAME:hemoglobin_beziers HEMOGLOBIN BEZIERS Supplemental_disease_name DISEASE_NAME:hemoglobin_bicetre HEMOGLOBIN BICETRE Supplemental_disease_name DISEASE_NAME:hemoglobin_birmingham HEMOGLOBIN BIRMINGHAM Supplemental_disease_name DISEASE_NAME:hemoglobin_birmingham_usa HEMOGLOBIN BIRMINGHAM (USA) Supplemental_disease_name DISEASE_NAME:hemoglobin_boghe HEMOGLOBIN BOGHE Supplemental_disease_name DISEASE_NAME:hemoglobin_bois_guillaume HEMOGLOBIN BOIS GUILLAUME Supplemental_disease_name DISEASE_NAME:hemoglobin_bologna HEMOGLOBIN BOLOGNA Supplemental_disease_name DISEASE_NAME:hemoglobin_bologna_st_orsola HEMOGLOBIN BOLOGNA-ST. ORSOLA Supplemental_disease_name DISEASE_NAME:hemoglobin_boras HEMOGLOBIN BORAS Supplemental_disease_name DISEASE_NAME:hemoglobin_bougardirey_mali HEMOGLOBIN BOUGARDIREY-MALI Supplemental_disease_name DISEASE_NAME:hemoglobin_bourmedes HEMOGLOBIN BOURMEDES Supplemental_disease_name DISEASE_NAME:hemoglobin_boyle_heights HEMOGLOBIN BOYLE HEIGHTS Supplemental_disease_name DISEASE_NAME:hemoglobin_brem_sur_mer Hemoglobin brem-sur-mer Supplemental_disease_name DISEASE_NAME:hemoglobin_brescia HEMOGLOBIN BRESCIA Supplemental_disease_name DISEASE_NAME:hemoglobin_brest HEMOGLOBIN BREST Supplemental_disease_name DISEASE_NAME:hemoglobin_brie_comte_robert HEMOGLOBIN BRIE COMTE ROBERT Supplemental_disease_name DISEASE_NAME:hemoglobin_brigham HEMOGLOBIN BRIGHAM Supplemental_disease_name DISEASE_NAME:hemoglobin_brisbane HEMOGLOBIN BRISBANE Supplemental_disease_name DISEASE_NAME:hemoglobin_bristol HEMOGLOBIN BRISTOL Supplemental_disease_name DISEASE_NAME:hemoglobin_british_columbia HEMOGLOBIN BRITISH COLUMBIA Supplemental_disease_name DISEASE_NAME:hemoglobin_brockton HEMOGLOBIN BROCKTON Supplemental_disease_name DISEASE_NAME:hemoglobin_broussais HEMOGLOBIN BROUSSAIS Supplemental_disease_name DISEASE_NAME:hemoglobin_buffalo HEMOGLOBIN BUFFALO Supplemental_disease_name DISEASE_NAME:hemoglobin_buginese_x HEMOGLOBIN BUGINESE-X Supplemental_disease_name DISEASE_NAME:hemoglobin_bunbury HEMOGLOBIN BUNBURY Supplemental_disease_name DISEASE_NAME:hemoglobin_burke HEMOGLOBIN BURKE Supplemental_disease_name DISEASE_NAME:hemoglobin_bushey HEMOGLOBIN BUSHEY Supplemental_disease_name DISEASE_NAME:hemoglobin_bushwick HEMOGLOBIN BUSHWICK Supplemental_disease_name DISEASE_NAME:hemoglobin_buzen HEMOGLOBIN BUZEN Supplemental_disease_name DISEASE_NAME:hemoglobin_c HEMOGLOBIN C Supplemental_disease_name DISEASE_NAME:hemoglobin_caen HEMOGLOBIN CAEN Supplemental_disease_name DISEASE_NAME:hemoglobin_cagliari HEMOGLOBIN CAGLIARI Supplemental_disease_name DISEASE_NAME:hemoglobin_calais HEMOGLOBIN CALAIS Supplemental_disease_name DISEASE_NAME:hemoglobin_camden HEMOGLOBIN CAMDEN Supplemental_disease_name DISEASE_NAME:hemoglobin_camperdown HEMOGLOBIN CAMPERDOWN Supplemental_disease_name DISEASE_NAME:hemoglobin_campinas HEMOGLOBIN CAMPINAS Supplemental_disease_name DISEASE_NAME:hemoglobin_canterbury HEMOGLOBIN CANTERBURY Supplemental_disease_name DISEASE_NAME:hemoglobin_capa HEMOGLOBIN CAPA Supplemental_disease_name DISEASE_NAME:hemoglobin_cardarelli HEMOGLOBIN CARDARELLI Supplemental_disease_name DISEASE_NAME:hemoglobin_caribbean HEMOGLOBIN CARIBBEAN Supplemental_disease_name DISEASE_NAME:hemoglobin_casper HEMOGLOBIN CASPER Supplemental_disease_name DISEASE_NAME:hemoglobin_castilla HEMOGLOBIN CASTILLA Supplemental_disease_name DISEASE_NAME:hemoglobin_catonsville HEMOGLOBIN CATONSVILLE Supplemental_disease_name DISEASE_NAME:hemoglobin_cemenelum HEMOGLOBIN CEMENELUM Supplemental_disease_name DISEASE_NAME:hemoglobin_chad HEMOGLOBIN CHAD Supplemental_disease_name DISEASE_NAME:hemoglobin_chandigarh HEMOGLOBIN CHANDIGARH Supplemental_disease_name DISEASE_NAME:hemoglobin_chapel_hill HEMOGLOBIN CHAPEL HILL Supplemental_disease_name DISEASE_NAME:hemoglobin_charolles HEMOGLOBIN CHAROLLES Supplemental_disease_name DISEASE_NAME:hemoglobin_chartres HEMOGLOBIN CHARTRES Supplemental_disease_name DISEASE_NAME:hemoglobin_chemilly HEMOGLOBIN CHEMILLY Supplemental_disease_name DISEASE_NAME:hemoglobin_chesapeake HEMOGLOBIN CHESAPEAKE Supplemental_disease_name DISEASE_NAME:hemoglobin_chesterfield HEMOGLOBIN CHESTERFIELD Supplemental_disease_name DISEASE_NAME:hemoglobin_cheverly HEMOGLOBIN CHEVERLY Supplemental_disease_name DISEASE_NAME:hemoglobin_chiapas HEMOGLOBIN CHIAPAS Supplemental_disease_name DISEASE_NAME:hemoglobin_chiba HEMOGLOBIN CHIBA Supplemental_disease_name DISEASE_NAME:hemoglobin_chicago HEMOGLOBIN CHICAGO Supplemental_disease_name DISEASE_NAME:hemoglobin_chico HEMOGLOBIN CHICO Supplemental_disease_name DISEASE_NAME:hemoglobin_chile HEMOGLOBIN CHILE Supplemental_disease_name DISEASE_NAME:hemoglobin_chongqing HEMOGLOBIN CHONGQING Supplemental_disease_name DISEASE_NAME:hemoglobin_christchurch HEMOGLOBIN CHRISTCHURCH Supplemental_disease_name DISEASE_NAME:hemoglobin_city_of_hope HEMOGLOBIN CITY OF HOPE Supplemental_disease_name DISEASE_NAME:hemoglobin_clinico_madrid HEMOGLOBIN CLINICO-MADRID Supplemental_disease_name DISEASE_NAME:hemoglobin_cochin_port_royal HEMOGLOBIN COCHIN-PORT ROYAL Supplemental_disease_name DISEASE_NAME:hemoglobin_cocody HEMOGLOBIN COCODY Supplemental_disease_name DISEASE_NAME:hemoglobin_coimbra HEMOGLOBIN COIMBRA Supplemental_disease_name DISEASE_NAME:hemoglobin_colima Hemoglobin Colima Supplemental_disease_name DISEASE_NAME:hemoglobin_collingwood HEMOGLOBIN COLLINGWOOD Supplemental_disease_name DISEASE_NAME:hemoglobin_columbia_missouri HEMOGLOBIN COLUMBIA MISSOURI Supplemental_disease_name DISEASE_NAME:hemoglobin_complutense HEMOGLOBIN COMPLUTENSE Supplemental_disease_name DISEASE_NAME:hemoglobin_conakry HEMOGLOBIN CONAKRY Supplemental_disease_name DISEASE_NAME:hemoglobin_connecticut HEMOGLOBIN CONNECTICUT Supplemental_disease_name DISEASE_NAME:hemoglobin_constant_spring Hemoglobin constant spring Supplemental_disease_name DISEASE_NAME:hemoglobin_contaldo HEMOGLOBIN CONTALDO Supplemental_disease_name DISEASE_NAME:hemoglobin_cordele HEMOGLOBIN CORDELE Supplemental_disease_name DISEASE_NAME:hemoglobin_costa_rica HEMOGLOBIN COSTA RICA Supplemental_disease_name DISEASE_NAME:hemoglobin_coventry HEMOGLOBIN COVENTRY Supplemental_disease_name DISEASE_NAME:hemoglobin_cowtown HEMOGLOBIN COWTOWN Supplemental_disease_name DISEASE_NAME:hemoglobin_cranston HEMOGLOBIN CRANSTON Supplemental_disease_name DISEASE_NAME:hemoglobin_crete HEMOGLOBIN CRETE Supplemental_disease_name DISEASE_NAME:hemoglobin_creteil Hemoglobin Creteil Supplemental_disease_name DISEASE_NAME:hemoglobin_d Hemoglobin D Supplemental_disease_name DISEASE_NAME:hemoglobin_d_baltimore HEMOGLOBIN D (BALTIMORE) Supplemental_disease_name DISEASE_NAME:hemoglobin_d_bushman HEMOGLOBIN D (BUSHMAN) Supplemental_disease_name DISEASE_NAME:hemoglobin_d_camperdown HEMOGLOBIN D (CAMPERDOWN) Supplemental_disease_name DISEASE_NAME:hemoglobin_d_granada HEMOGLOBIN D (GRANADA) Supplemental_disease_name DISEASE_NAME:hemoglobin_d_ibadan HEMOGLOBIN D (IBADAN) Supplemental_disease_name DISEASE_NAME:hemoglobin_d_iran HEMOGLOBIN D (IRAN) Supplemental_disease_name DISEASE_NAME:hemoglobin_d_neath HEMOGLOBIN D (NEATH) Supplemental_disease_name DISEASE_NAME:hemoglobin_d_ouled_rabah HEMOGLOBIN D (OULED RABAH) Supplemental_disease_name DISEASE_NAME:hemoglobin_d_st_louis HEMOGLOBIN D (ST. LOUIS) Supplemental_disease_name DISEASE_NAME:hemoglobin_d_washington HEMOGLOBIN D (WASHINGTON) Supplemental_disease_name DISEASE_NAME:hemoglobin_dagestan HEMOGLOBIN DAGESTAN Supplemental_disease_name DISEASE_NAME:hemoglobin_dakar HEMOGLOBIN DAKAR Supplemental_disease_name DISEASE_NAME:hemoglobin_daneshgah_tehran HEMOGLOBIN DANESHGAH-TEHRAN Supplemental_disease_name DISEASE_NAME:hemoglobin_dartmouth HEMOGLOBIN DARTMOUTH Supplemental_disease_name DISEASE_NAME:hemoglobin_davenport HEMOGLOBIN DAVENPORT Supplemental_disease_name DISEASE_NAME:hemoglobin_deaconess HEMOGLOBIN DEACONESS Supplemental_disease_name DISEASE_NAME:hemoglobin_debrousse HEMOGLOBIN DEBROUSSE Supplemental_disease_name DISEASE_NAME:hemoglobin_decines_charpieu HEMOGLOBIN DECINES-CHARPIEU Supplemental_disease_name DISEASE_NAME:hemoglobin_deer_lodge HEMOGLOBIN DEER LODGE Supplemental_disease_name DISEASE_NAME:hemoglobin_delfzicht HEMOGLOBIN DELFZICHT Supplemental_disease_name DISEASE_NAME:hemoglobin_denmark_hill HEMOGLOBIN DENMARK HILL Supplemental_disease_name DISEASE_NAME:hemoglobin_denver HEMOGLOBIN DENVER Supplemental_disease_name DISEASE_NAME:hemoglobin_detroit HEMOGLOBIN DETROIT Supplemental_disease_name DISEASE_NAME:hemoglobin_die HEMOGLOBIN DIE Supplemental_disease_name DISEASE_NAME:hemoglobin_dieppe HEMOGLOBIN DIEPPE Supplemental_disease_name DISEASE_NAME:hemoglobin_djelfa HEMOGLOBIN DJELFA Supplemental_disease_name DISEASE_NAME:hemoglobin_doha HEMOGLOBIN DOHA Supplemental_disease_name DISEASE_NAME:hemoglobin_douala Hemoglobin Douala Supplemental_disease_name DISEASE_NAME:hemoglobin_drenthe HEMOGLOBIN DRENTHE Supplemental_disease_name DISEASE_NAME:hemoglobin_duan HEMOGLOBIN DUAN Supplemental_disease_name DISEASE_NAME:hemoglobin_duarte HEMOGLOBIN DUARTE Supplemental_disease_name DISEASE_NAME:hemoglobin_dunn HEMOGLOBIN DUNN Supplemental_disease_name DISEASE_NAME:hemoglobin_durham_n_c HEMOGLOBIN DURHAM-N.C. Supplemental_disease_name DISEASE_NAME:hemoglobin_e Hemoglobin E Supplemental_disease_name DISEASE_NAME:hemoglobin_e_beta_thalassemia Hemoglobin E/beta- thalassemia Supplemental_disease_name DISEASE_NAME:hemoglobin_e_beta_thalassemia_disease Hemoglobin E/beta thalassemia disease Supplemental_disease_name DISEASE_NAME:hemoglobin_e_saskatoon HEMOGLOBIN E (SASKATOON) Supplemental_disease_name DISEASE_NAME:hemoglobin_edmonton HEMOGLOBIN EDMONTON Supplemental_disease_name DISEASE_NAME:hemoglobin_egypt HEMOGLOBIN EGYPT Supplemental_disease_name DISEASE_NAME:hemoglobin_ernz Hemoglobin Ernz Supplemental_disease_name DISEASE_NAME:hemoglobin_ethiopia HEMOGLOBIN ETHIOPIA Supplemental_disease_name DISEASE_NAME:hemoglobin_etobicoke HEMOGLOBIN ETOBICOKE Supplemental_disease_name DISEASE_NAME:hemoglobin_evans HEMOGLOBIN EVANS Supplemental_disease_name DISEASE_NAME:hemoglobin_evanston HEMOGLOBIN EVANSTON Supplemental_disease_name DISEASE_NAME:hemoglobin_extremadura HEMOGLOBIN EXTREMADURA Supplemental_disease_name DISEASE_NAME:hemoglobin_f_albaicin HEMOGLOBIN F (ALBAICIN) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_auckland HEMOGLOBIN F (AUCKLAND) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_austell HEMOGLOBIN F (AUSTELL) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_baskent HEMOGLOBIN F (BASKENT) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_beech_island HEMOGLOBIN F (BEECH ISLAND) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_bonaire HEMOGLOBIN F (BONAIRE) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_brooklyn HEMOGLOBIN F (BROOKLYN) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_calabria HEMOGLOBIN F (CALABRIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_calluna HEMOGLOBIN F (CALLUNA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_caltech HEMOGLOBIN F (CALTECH) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_carlton HEMOGLOBIN F (CARLTON) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_catalonia HEMOGLOBIN F (CATALONIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_clamart HEMOGLOBIN F (CLAMART) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_clarke HEMOGLOBIN F (CLARKE) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_cobb HEMOGLOBIN F (COBB) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_columbus_ga HEMOGLOBIN F (COLUMBUS-GA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_cosenza HEMOGLOBIN F (COSENZA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_dammam HEMOGLOBIN F (DAMMAM) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_dickinson HEMOGLOBIN F (DICKINSON) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_emirates HEMOGLOBIN F (EMIRATES) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_forest_park HEMOGLOBIN F (FOREST PARK) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_fuchu HEMOGLOBIN F (FUCHU) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_fukuyama HEMOGLOBIN F (FUKUYAMA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_granada HEMOGLOBIN F (GRANADA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_heather HEMOGLOBIN F (HEATHER) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_hull HEMOGLOBIN F (HULL) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_iwata HEMOGLOBIN F (IWATA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_izumi HEMOGLOBIN F (IZUMI) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_jamaica HEMOGLOBIN F (JAMAICA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_jiangsu HEMOGLOBIN F (JIANGSU) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_kennestone HEMOGLOBIN F (KENNESTONE) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_kingston HEMOGLOBIN F (KINGSTON) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_koelliker HEMOGLOBIN F (KOELLIKER) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_kotobuki HEMOGLOBIN F (KOTOBUKI) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_kuala_lumpur HEMOGLOBIN F (KUALA LUMPUR) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_la_grange HEMOGLOBIN F (LA GRANGE) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_lesvos HEMOGLOBIN F (LESVOS) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_lodz HEMOGLOBIN F (LODZ) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_macedonia_i HEMOGLOBIN F (MACEDONIA-I) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_macedonia_ii HEMOGLOBIN F (MACEDONIA II) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_malaysia HEMOGLOBIN F (MALAYSIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_malta HEMOGLOBIN F (MALTA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_marietta HEMOGLOBIN F (MARIETTA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_meinohama HEMOGLOBIN F (MEINOHAMA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_melbourne HEMOGLOBIN F (MELBOURNE) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_minoo HEMOGLOBIN F (MINOO) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_oakland HEMOGLOBIN F (OAKLAND) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_onoda HEMOGLOBIN F (ONODA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_ouled_rabah HEMOGLOBIN F (OULED RABAH) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_pendergrass HEMOGLOBIN F (PENDERGRASS) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_poole HEMOGLOBIN F (POOLE) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_pordenone HEMOGLOBIN F (PORDENONE) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_port_royal HEMOGLOBIN F (PORT ROYAL) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_sacromonte HEMOGLOBIN F (SACROMONTE) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_sardinia HEMOGLOBIN F (SARDINIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_shanghai HEMOGLOBIN F (SHANGHAI) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_siena HEMOGLOBIN F (SIENA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_texas_i HEMOGLOBIN F (TEXAS I) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_tokyo HEMOGLOBIN F (TOKYO) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_urumqi HEMOGLOBIN F (URUMQI) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_veleta HEMOGLOBIN F (VELETA) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_victoria_jubilee HEMOGLOBIN F (VICTORIA JUBILEE) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_waynesboro HEMOGLOBIN F (WAYNESBORO) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_woodstock HEMOGLOBIN F (WOODSTOCK) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_xin_su HEMOGLOBIN F (XIN-SU) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_xinjiang HEMOGLOBIN F (XINJIANG) Supplemental_disease_name DISEASE_NAME:hemoglobin_f_yamaguchi HEMOGLOBIN F (YAMAGUCHI) Supplemental_disease_name DISEASE_NAME:hemoglobin_ferndown HEMOGLOBIN FERNDOWN Supplemental_disease_name DISEASE_NAME:hemoglobin_flatbush_georgia HEMOGLOBIN FLATBUSH (GEORGIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_fontainebleau HEMOGLOBIN FONTAINEBLEAU Supplemental_disease_name DISEASE_NAME:hemoglobin_fort_de_france HEMOGLOBIN FORT DE FRANCE Supplemental_disease_name DISEASE_NAME:hemoglobin_fort_worth HEMOGLOBIN FORT WORTH Supplemental_disease_name DISEASE_NAME:hemoglobin_fuchu_i HEMOGLOBIN FUCHU-I Supplemental_disease_name DISEASE_NAME:hemoglobin_fuchu_ii HEMOGLOBIN FUCHU-II Supplemental_disease_name DISEASE_NAME:hemoglobin_fukui HEMOGLOBIN FUKUI Supplemental_disease_name DISEASE_NAME:hemoglobin_fukuoka HEMOGLOBIN FUKUOKA Supplemental_disease_name DISEASE_NAME:hemoglobin_fukutomi HEMOGLOBIN FUKUTOMI Supplemental_disease_name DISEASE_NAME:hemoglobin_fukuyama HEMOGLOBIN FUKUYAMA Supplemental_disease_name DISEASE_NAME:hemoglobin_g_accra HEMOGLOBIN G (ACCRA) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_audhali HEMOGLOBIN G (AUDHALI) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_azakuoli HEMOGLOBIN G (AZAKUOLI) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_bristol HEMOGLOBIN G (BRISTOL) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_chinese HEMOGLOBIN G (CHINESE) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_copenhagen HEMOGLOBIN G (COPENHAGEN) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_coushatta HEMOGLOBIN G (COUSHATTA) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_ferrara HEMOGLOBIN G (FERRARA) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_fort_worth HEMOGLOBIN G (FORT WORTH) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_galveston HEMOGLOBIN G (GALVESTON) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_georgia HEMOGLOBIN G (GEORGIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_hong_kong HEMOGLOBIN G (HONG KONG) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_honolulu HEMOGLOBIN G (HONOLULU) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_hsi_tsou HEMOGLOBIN G (HSI-TSOU) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_hsin_chu HEMOGLOBIN G (HSIN-CHU) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_knoxville HEMOGLOBIN G (KNOXVILLE) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_makassar HEMOGLOBIN G (MAKASSAR) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_norfolk HEMOGLOBIN G (NORFOLK) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_pest HEMOGLOBIN G (PEST) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_philadelphia HEMOGLOBIN G (PHILADELPHIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_port_arthur HEMOGLOBIN G (PORT ARTHUR) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_san_jose HEMOGLOBIN G (SAN JOSE) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_saskatoon HEMOGLOBIN G (SASKATOON) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_singapore HEMOGLOBIN G (SINGAPORE) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_szuhu HEMOGLOBIN G (SZUHU) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_taegu HEMOGLOBIN G (TAEGU) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_taichung HEMOGLOBIN G (TAICHUNG) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_taipei HEMOGLOBIN G (TAIPEI) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_taiwan_ami HEMOGLOBIN G (TAIWAN-AMI) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_texas HEMOGLOBIN G (TEXAS) Supplemental_disease_name DISEASE_NAME:hemoglobin_g_waimanalo HEMOGLOBIN G (WAIMANALO) Supplemental_disease_name DISEASE_NAME:hemoglobin_gainesville_ga HEMOGLOBIN GAINESVILLE-GA Supplemental_disease_name DISEASE_NAME:hemoglobin_galicia HEMOGLOBIN GALICIA Supplemental_disease_name DISEASE_NAME:hemoglobin_gambara Hemoglobin Gambara Supplemental_disease_name DISEASE_NAME:hemoglobin_garden_state HEMOGLOBIN GARDEN STATE Supplemental_disease_name DISEASE_NAME:hemoglobin_gavello HEMOGLOBIN GAVELLO Supplemental_disease_name DISEASE_NAME:hemoglobin_geelong HEMOGLOBIN GEELONG Supplemental_disease_name DISEASE_NAME:hemoglobin_geldrop_st_anna HEMOGLOBIN GELDROP ST. ANNA Supplemental_disease_name DISEASE_NAME:hemoglobin_genova HEMOGLOBIN GENOVA Supplemental_disease_name DISEASE_NAME:hemoglobin_gerland HEMOGLOBIN GERLAND Supplemental_disease_name DISEASE_NAME:hemoglobin_gifu HEMOGLOBIN GIFU Supplemental_disease_name DISEASE_NAME:hemoglobin_godavari HEMOGLOBIN GODAVARI Supplemental_disease_name DISEASE_NAME:hemoglobin_gothenburg HEMOGLOBIN GOTHENBURG Supplemental_disease_name DISEASE_NAME:hemoglobin_gouda HEMOGLOBIN GOUDA Supplemental_disease_name DISEASE_NAME:hemoglobin_grady HEMOGLOBIN GRADY Supplemental_disease_name DISEASE_NAME:hemoglobin_grange_blanche HEMOGLOBIN GRANGE-BLANCHE Supplemental_disease_name DISEASE_NAME:hemoglobin_graz HEMOGLOBIN GRAZ Supplemental_disease_name DISEASE_NAME:hemoglobin_great_lakes HEMOGLOBIN GREAT LAKES Supplemental_disease_name DISEASE_NAME:hemoglobin_guangzhou HEMOGLOBIN GUANGZHOU Supplemental_disease_name DISEASE_NAME:hemoglobin_guizhou HEMOGLOBIN GUIZHOU Supplemental_disease_name DISEASE_NAME:hemoglobin_gun_hill HEMOGLOBIN GUN HILL Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_alpha_thalassemia_erythrocytosis_familial_7_heinz_body_anemia Hemoglobin H disease;alpha Thalassemia;Erythrocytosis, familial, 7;Heinz body anemia Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_alpha_thalassemia_heinz_body_anemia_erythrocytosis_familial_7 Hemoglobin H disease;alpha Thalassemia;Heinz body anemia;Erythrocytosis, familial, 7 Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_alpha_thalassemia_heinz_body_anemia_methemoglobinemia_alpha_type_erythrocytosis_familial_7 Hemoglobin H disease;alpha Thalassemia;Heinz body anemia;Methemoglobinemia, alpha type;Erythrocytosis, familial, 7 Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_alpha_thalassemia_hemoglobin_bart_hydrops_syndrome Hemoglobin H disease;alpha Thalassemia;Hemoglobin Bart hydrops syndrome Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_alpha_thalassemia_methemoglobinemia_alpha_type_erythrocytosis_familial_7_heinz_body_anemia Hemoglobin H disease;alpha Thalassemia;Methemoglobinemia, alpha type;Erythrocytosis, familial, 7;Heinz body anemia Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_erythrocytosis_familial_7_heinz_body_anemia_alpha_thalassemia_methemoglobinemia_alpha_type Hemoglobin H disease;Erythrocytosis, familial, 7;Heinz body anemia;alpha Thalassemia;Methemoglobinemia, alpha type Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_heinz_body_anemia_alpha_thalassemia_erythrocytosis_familial_7 Hemoglobin H disease;Heinz body anemia;alpha Thalassemia;Erythrocytosis, familial, 7 Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_heinz_body_anemia_erythrocytosis_familial_7_alpha_thalassemia Hemoglobin H disease;Heinz body anemia;Erythrocytosis, familial, 7;alpha Thalassemia Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_heinz_body_anemia_erythrocytosis_familial_7_methemoglobinemia_alpha_type_alpha_thalassemia Hemoglobin H disease;Heinz body anemia;Erythrocytosis, familial, 7;Methemoglobinemia, alpha type;alpha Thalassemia Supplemental_disease_name DISEASE_NAME:hemoglobin_h_disease_nondeletional Hemoglobin H disease, nondeletional Supplemental_disease_name DISEASE_NAME:hemoglobin_h_hydrops_fetalis_syndrome HEMOGLOBIN H HYDROPS FETALIS SYNDROME Supplemental_disease_name DISEASE_NAME:hemoglobin_hacettepe HEMOGLOBIN HACETTEPE Supplemental_disease_name DISEASE_NAME:hemoglobin_hafnia HEMOGLOBIN HAFNIA Supplemental_disease_name DISEASE_NAME:hemoglobin_hakkari HEMOGLOBIN HAKKARI Supplemental_disease_name DISEASE_NAME:hemoglobin_hamadan HEMOGLOBIN HAMADAN Supplemental_disease_name DISEASE_NAME:hemoglobin_hamilton HEMOGLOBIN HAMILTON Supplemental_disease_name DISEASE_NAME:hemoglobin_hammersmith HEMOGLOBIN HAMMERSMITH Supplemental_disease_name DISEASE_NAME:hemoglobin_hana HEMOGLOBIN HANA Supplemental_disease_name DISEASE_NAME:hemoglobin_hanamaki HEMOGLOBIN HANAMAKI Supplemental_disease_name DISEASE_NAME:hemoglobin_handa HEMOGLOBIN HANDA Supplemental_disease_name DISEASE_NAME:hemoglobin_handsworth HEMOGLOBIN HANDSWORTH Supplemental_disease_name DISEASE_NAME:hemoglobin_hangzhou HEMOGLOBIN HANGZHOU Supplemental_disease_name DISEASE_NAME:hemoglobin_harbin Hemoglobin Harbin Supplemental_disease_name DISEASE_NAME:hemoglobin_harrow HEMOGLOBIN HARROW Supplemental_disease_name DISEASE_NAME:hemoglobin_hasharon HEMOGLOBIN HASHARON Supplemental_disease_name DISEASE_NAME:hemoglobin_hazebrouck Hemoglobin Hazebrouck Supplemental_disease_name DISEASE_NAME:hemoglobin_heathrow HEMOGLOBIN HEATHROW Supplemental_disease_name DISEASE_NAME:hemoglobin_hekinan HEMOGLOBIN HEKINAN Supplemental_disease_name DISEASE_NAME:hemoglobin_helsinki Hemoglobin Helsinki Supplemental_disease_name DISEASE_NAME:hemoglobin_henri_mondor HEMOGLOBIN HENRI MONDOR Supplemental_disease_name DISEASE_NAME:hemoglobin_higashitochigi HEMOGLOBIN HIGASHITOCHIGI Supplemental_disease_name DISEASE_NAME:hemoglobin_high_altitude_adaptation_erythrocytosis_familial_3 Hemoglobin, high altitude adaptation;Erythrocytosis, familial, 3 Supplemental_disease_name DISEASE_NAME:hemoglobin_hijiyama HEMOGLOBIN HIJIYAMA Supplemental_disease_name DISEASE_NAME:hemoglobin_hikari HEMOGLOBIN HIKARI Supplemental_disease_name DISEASE_NAME:hemoglobin_hikoshima HEMOGLOBIN HIKOSHIMA Supplemental_disease_name DISEASE_NAME:hemoglobin_himeji HEMOGLOBIN HIMEJI Supplemental_disease_name DISEASE_NAME:hemoglobin_hinsdale HEMOGLOBIN HINSDALE Supplemental_disease_name DISEASE_NAME:hemoglobin_hinwil Hemoglobin Hinwil Supplemental_disease_name DISEASE_NAME:hemoglobin_hirosaki HEMOGLOBIN HIROSAKI Supplemental_disease_name DISEASE_NAME:hemoglobin_hirose HEMOGLOBIN HIROSE Supplemental_disease_name DISEASE_NAME:hemoglobin_hiroshima HEMOGLOBIN HIROSHIMA Supplemental_disease_name DISEASE_NAME:hemoglobin_hobart HEMOGLOBIN HOBART Supplemental_disease_name DISEASE_NAME:hemoglobin_hofu HEMOGLOBIN HOFU Supplemental_disease_name DISEASE_NAME:hemoglobin_hokusetsu HEMOGLOBIN HOKUSETSU Supplemental_disease_name DISEASE_NAME:hemoglobin_hopkins_1 HEMOGLOBIN HOPKINS 1 Supplemental_disease_name DISEASE_NAME:hemoglobin_hopkins_2 HEMOGLOBIN HOPKINS 2 Supplemental_disease_name DISEASE_NAME:hemoglobin_hotel_dieu HEMOGLOBIN HOTEL-DIEU Supplemental_disease_name DISEASE_NAME:hemoglobin_howick HEMOGLOBIN HOWICK Supplemental_disease_name DISEASE_NAME:hemoglobin_ht HEMOGLOBIN HT Supplemental_disease_name DISEASE_NAME:hemoglobin_hyogo HEMOGLOBIN HYOGO Supplemental_disease_name DISEASE_NAME:hemoglobin_i Hemoglobin I Supplemental_disease_name DISEASE_NAME:hemoglobin_i_burlington HEMOGLOBIN I (BURLINGTON) Supplemental_disease_name DISEASE_NAME:hemoglobin_i_high_wycombe HEMOGLOBIN I (HIGH WYCOMBE) Supplemental_disease_name DISEASE_NAME:hemoglobin_i_interlaken HEMOGLOBIN I (INTERLAKEN) Supplemental_disease_name DISEASE_NAME:hemoglobin_i_philadelphia HEMOGLOBIN I (PHILADELPHIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_i_skamania HEMOGLOBIN I (SKAMANIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_i_texas HEMOGLOBIN I (TEXAS) Supplemental_disease_name DISEASE_NAME:hemoglobin_icaria HEMOGLOBIN ICARIA Supplemental_disease_name DISEASE_NAME:hemoglobin_ilmenau HEMOGLOBIN ILMENAU Supplemental_disease_name DISEASE_NAME:hemoglobin_indianapolis HEMOGLOBIN INDIANAPOLIS Supplemental_disease_name DISEASE_NAME:hemoglobin_inkster HEMOGLOBIN INKSTER Supplemental_disease_name DISEASE_NAME:hemoglobin_iowa HEMOGLOBIN IOWA Supplemental_disease_name DISEASE_NAME:hemoglobin_iraq_halabja HEMOGLOBIN IRAQ-HALABJA Supplemental_disease_name DISEASE_NAME:hemoglobin_iwata HEMOGLOBIN IWATA Supplemental_disease_name DISEASE_NAME:hemoglobin_j Hemoglobin J Supplemental_disease_name DISEASE_NAME:hemoglobin_j_abidjan HEMOGLOBIN J (ABIDJAN) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_aljezur HEMOGLOBIN J (ALJEZUR) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_altgeld_gardens HEMOGLOBIN J (ALTGELD GARDENS) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_amiens HEMOGLOBIN J (AMIENS) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_anatolia HEMOGLOBIN J (ANATOLIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_antakya HEMOGLOBIN J (ANTAKYA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_auckland HEMOGLOBIN J (AUCKLAND) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_baltimore HEMOGLOBIN J (BALTIMORE) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_bari HEMOGLOBIN J (BARI) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_birmingham HEMOGLOBIN J (BIRMINGHAM) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_biskra HEMOGLOBIN J (BISKRA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_broussais HEMOGLOBIN J (BROUSSAIS) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_buda HEMOGLOBIN J (BUDA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_cairo HEMOGLOBIN J (CAIRO) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_calabria HEMOGLOBIN J (CALABRIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_camaguey HEMOGLOBIN J (CAMAGUEY) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_cape_town HEMOGLOBIN J (CAPE TOWN) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_chicago HEMOGLOBIN J (CHICAGO) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_cordoba HEMOGLOBIN J (CORDOBA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_cosenza HEMOGLOBIN J (COSENZA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_cubujuqui HEMOGLOBIN J (CUBUJUQUI) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_daloa HEMOGLOBIN J (DALOA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_europa HEMOGLOBIN J (EUROPA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_guantanamo HEMOGLOBIN J (GUANTANAMO) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_habana HEMOGLOBIN J (HABANA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_iran HEMOGLOBIN J (IRAN) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_kurosh HEMOGLOBIN J (KUROSH) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_lens HEMOGLOBIN J (LENS) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_lome HEMOGLOBIN J (LOME) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_luhe HEMOGLOBIN J (LUHE) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_medellin HEMOGLOBIN J (MEDELLIN) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_meerut HEMOGLOBIN J (MEERUT) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_mexico HEMOGLOBIN J (MEXICO) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_norfolk HEMOGLOBIN J (NORFOLK) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_nyanza HEMOGLOBIN J (NYANZA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_oxford HEMOGLOBIN J (OXFORD) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_paris_1 HEMOGLOBIN J (PARIS 1) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_paris_2 HEMOGLOBIN J (PARIS 2) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_pontoise HEMOGLOBIN J (PONTOISE) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_rajappen HEMOGLOBIN J (RAJAPPEN) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_rovigo HEMOGLOBIN J (ROVIGO) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_sardegna HEMOGLOBIN J (SARDEGNA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_sicilia HEMOGLOBIN J (SICILIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_singa HEMOGLOBIN J (SINGA) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_taichung HEMOGLOBIN J (TAICHUNG) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_tashikuergan HEMOGLOBIN J (TASHIKUERGAN) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_tongariki HEMOGLOBIN J (TONGARIKI) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_toronto HEMOGLOBIN J (TORONTO) Supplemental_disease_name DISEASE_NAME:hemoglobin_j_wenchang_wuming HEMOGLOBIN J (WENCHANG-WUMING) Supplemental_disease_name DISEASE_NAME:hemoglobin_jackson HEMOGLOBIN JACKSON Supplemental_disease_name DISEASE_NAME:hemoglobin_jacksonville HEMOGLOBIN JACKSONVILLE Supplemental_disease_name DISEASE_NAME:hemoglobin_jenkins HEMOGLOBIN JENKINS Supplemental_disease_name DISEASE_NAME:hemoglobin_jianghua HEMOGLOBIN JIANGHUA Supplemental_disease_name DISEASE_NAME:hemoglobin_jinan HEMOGLOBIN JINAN Supplemental_disease_name DISEASE_NAME:hemoglobin_johnstown HEMOGLOBIN JOHNSTOWN Supplemental_disease_name DISEASE_NAME:hemoglobin_k_cameroon HEMOGLOBIN K (CAMEROON) Supplemental_disease_name DISEASE_NAME:hemoglobin_k_ibadan HEMOGLOBIN K (IBADAN) Supplemental_disease_name DISEASE_NAME:hemoglobin_k_woolwich HEMOGLOBIN K (WOOLWICH) Supplemental_disease_name DISEASE_NAME:hemoglobin_kagoshima HEMOGLOBIN KAGOSHIMA Supplemental_disease_name DISEASE_NAME:hemoglobin_kanagawa HEMOGLOBIN KANAGAWA Supplemental_disease_name DISEASE_NAME:hemoglobin_karachi HEMOGLOBIN KARACHI Supplemental_disease_name DISEASE_NAME:hemoglobin_kariya HEMOGLOBIN KARIYA Supplemental_disease_name DISEASE_NAME:hemoglobin_karlskoga HEMOGLOBIN KARLSKOGA Supplemental_disease_name DISEASE_NAME:hemoglobin_kawachi HEMOGLOBIN KAWACHI Supplemental_disease_name DISEASE_NAME:hemoglobin_kempsey HEMOGLOBIN KEMPSEY Supplemental_disease_name DISEASE_NAME:hemoglobin_kenitra HEMOGLOBIN KENITRA Supplemental_disease_name DISEASE_NAME:hemoglobin_kenwood HEMOGLOBIN KENWOOD Supplemental_disease_name DISEASE_NAME:hemoglobin_kenya HEMOGLOBIN KENYA Supplemental_disease_name DISEASE_NAME:hemoglobin_khartoum HEMOGLOBIN KHARTOUM Supplemental_disease_name DISEASE_NAME:hemoglobin_knossos HEMOGLOBIN KNOSSOS Supplemental_disease_name DISEASE_NAME:hemoglobin_knoxville_1 HEMOGLOBIN KNOXVILLE-1 Supplemental_disease_name DISEASE_NAME:hemoglobin_kobe HEMOGLOBIN KOBE Supplemental_disease_name DISEASE_NAME:hemoglobin_kodaira HEMOGLOBIN KODAIRA Supplemental_disease_name DISEASE_NAME:hemoglobin_kodaira_ii HEMOGLOBIN KODAIRA II Supplemental_disease_name DISEASE_NAME:hemoglobin_koelliker HEMOGLOBIN KOELLIKER Supplemental_disease_name DISEASE_NAME:hemoglobin_kofu Hemoglobin Kofu Supplemental_disease_name DISEASE_NAME:hemoglobin_kokura HEMOGLOBIN KOKURA Supplemental_disease_name DISEASE_NAME:hemoglobin_korea HEMOGLOBIN KOREA Supplemental_disease_name DISEASE_NAME:hemoglobin_koriyama HEMOGLOBIN KORIYAMA Supplemental_disease_name DISEASE_NAME:hemoglobin_korle_bu HEMOGLOBIN KORLE-BU Supplemental_disease_name DISEASE_NAME:hemoglobin_koya_dora HEMOGLOBIN KOYA DORA Supplemental_disease_name DISEASE_NAME:hemoglobin_kurashiki HEMOGLOBIN KURASHIKI Supplemental_disease_name DISEASE_NAME:hemoglobin_kurdistan HEMOGLOBIN KURDISTAN Supplemental_disease_name DISEASE_NAME:hemoglobin_kurosaki HEMOGLOBIN KUROSAKI Supplemental_disease_name DISEASE_NAME:hemoglobin_l_ferrara HEMOGLOBIN L (FERRARA) Supplemental_disease_name DISEASE_NAME:hemoglobin_l_gaslini HEMOGLOBIN L (GASLINI) Supplemental_disease_name DISEASE_NAME:hemoglobin_l_persian_gulf HEMOGLOBIN L (PERSIAN GULF) Supplemental_disease_name DISEASE_NAME:hemoglobin_la_coruna Hemoglobin La Coruna Supplemental_disease_name DISEASE_NAME:hemoglobin_la_desirade HEMOGLOBIN LA DESIRADE Supplemental_disease_name DISEASE_NAME:hemoglobin_la_roche_sur_yon HEMOGLOBIN LA ROCHE-SUR-YON Supplemental_disease_name DISEASE_NAME:hemoglobin_lamen_island HEMOGLOBIN LAMEN ISLAND Supplemental_disease_name DISEASE_NAME:hemoglobin_las_palmas Hemoglobin Las Palmas Supplemental_disease_name DISEASE_NAME:hemoglobin_le_lamentin HEMOGLOBIN LE LAMENTIN Supplemental_disease_name DISEASE_NAME:hemoglobin_legnano HEMOGLOBIN LEGNANO Supplemental_disease_name DISEASE_NAME:hemoglobin_leiden HEMOGLOBIN LEIDEN Supplemental_disease_name DISEASE_NAME:hemoglobin_lepore_trait Hemoglobin Lepore trait Supplemental_disease_name DISEASE_NAME:hemoglobin_leslie HEMOGLOBIN LESLIE Supplemental_disease_name DISEASE_NAME:hemoglobin_lille HEMOGLOBIN LILLE Supplemental_disease_name DISEASE_NAME:hemoglobin_limassol HEMOGLOBIN LIMASSOL Supplemental_disease_name DISEASE_NAME:hemoglobin_lincoln_park HEMOGLOBIN LINCOLN PARK Supplemental_disease_name DISEASE_NAME:hemoglobin_linkoping HEMOGLOBIN LINKOPING Supplemental_disease_name DISEASE_NAME:hemoglobin_lisbon HEMOGLOBIN LISBON Supplemental_disease_name DISEASE_NAME:hemoglobin_lodz Hemoglobin Lodz Supplemental_disease_name DISEASE_NAME:hemoglobin_loire HEMOGLOBIN LOIRE Supplemental_disease_name DISEASE_NAME:hemoglobin_lombard HEMOGLOBIN LOMBARD Supplemental_disease_name DISEASE_NAME:hemoglobin_lucknow HEMOGLOBIN LUCKNOW Supplemental_disease_name DISEASE_NAME:hemoglobin_lufkin HEMOGLOBIN LUFKIN Supplemental_disease_name DISEASE_NAME:hemoglobin_luton HEMOGLOBIN LUTON Supplemental_disease_name DISEASE_NAME:hemoglobin_luxembourg Hemoglobin Luxembourg Supplemental_disease_name DISEASE_NAME:hemoglobin_lyon HEMOGLOBIN LYON Supplemental_disease_name DISEASE_NAME:hemoglobin_m_akita HEMOGLOBIN M (AKITA) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_boston HEMOGLOBIN M (BOSTON) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_gothenburg HEMOGLOBIN M (GOTHENBURG) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_hyde_park HEMOGLOBIN M (HYDE PARK) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_iwate HEMOGLOBIN M (IWATE) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_kankakee HEMOGLOBIN M (KANKAKEE) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_kiskunhalas HEMOGLOBIN M (KISKUNHALAS) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_milwaukee_1 HEMOGLOBIN M (MILWAUKEE 1) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_milwaukee_2 HEMOGLOBIN M (MILWAUKEE 2) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_oldenburg HEMOGLOBIN M (OLDENBURG) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_osaka HEMOGLOBIN M (OSAKA) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_radom_methemoglobinemia_beta_type HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE Supplemental_disease_name DISEASE_NAME:hemoglobin_m_saskatoon HEMOGLOBIN M (SASKATOON) Supplemental_disease_name DISEASE_NAME:hemoglobin_m_sendai HEMOGLOBIN M (SENDAI) Supplemental_disease_name DISEASE_NAME:hemoglobin_machida HEMOGLOBIN MACHIDA Supplemental_disease_name DISEASE_NAME:hemoglobin_madrid HEMOGLOBIN MADRID Supplemental_disease_name DISEASE_NAME:hemoglobin_mahidol HEMOGLOBIN MAHIDOL Supplemental_disease_name DISEASE_NAME:hemoglobin_malay HEMOGLOBIN MALAY Supplemental_disease_name DISEASE_NAME:hemoglobin_malaysia Hemoglobin Malaysia Supplemental_disease_name DISEASE_NAME:hemoglobin_malhacen HEMOGLOBIN MALHACEN Supplemental_disease_name DISEASE_NAME:hemoglobin_malmo HEMOGLOBIN MALMO Supplemental_disease_name DISEASE_NAME:hemoglobin_manawatu HEMOGLOBIN MANAWATU Supplemental_disease_name DISEASE_NAME:hemoglobin_manhattan HEMOGLOBIN MANHATTAN Supplemental_disease_name DISEASE_NAME:hemoglobin_manitoba HEMOGLOBIN MANITOBA Supplemental_disease_name DISEASE_NAME:hemoglobin_mantes_la_jolie HEMOGLOBIN MANTES-LA-JOLIE Supplemental_disease_name DISEASE_NAME:hemoglobin_manukau HEMOGLOBIN MANUKAU Supplemental_disease_name DISEASE_NAME:hemoglobin_maputo HEMOGLOBIN MAPUTO Supplemental_disease_name DISEASE_NAME:hemoglobin_marineo HEMOGLOBIN MARINEO Supplemental_disease_name DISEASE_NAME:hemoglobin_matera HEMOGLOBIN MATERA Supplemental_disease_name DISEASE_NAME:hemoglobin_matsue_oki HEMOGLOBIN MATSUE-OKI Supplemental_disease_name DISEASE_NAME:hemoglobin_mckees_rocks HEMOGLOBIN MCKEES ROCKS Supplemental_disease_name DISEASE_NAME:hemoglobin_meilahti HEMOGLOBIN MEILAHTI Supplemental_disease_name DISEASE_NAME:hemoglobin_melusine HEMOGLOBIN MELUSINE Supplemental_disease_name DISEASE_NAME:hemoglobin_memphis HEMOGLOBIN MEMPHIS Supplemental_disease_name DISEASE_NAME:hemoglobin_mequon HEMOGLOBIN MEQUON Supplemental_disease_name DISEASE_NAME:hemoglobin_mexico HEMOGLOBIN MEXICO Supplemental_disease_name DISEASE_NAME:hemoglobin_michigan_i HEMOGLOBIN MICHIGAN-I Supplemental_disease_name DISEASE_NAME:hemoglobin_michigan_ii HEMOGLOBIN MICHIGAN-II Supplemental_disease_name DISEASE_NAME:hemoglobin_milledgeville HEMOGLOBIN MILLEDGEVILLE Supplemental_disease_name DISEASE_NAME:hemoglobin_minneapolis_laos HEMOGLOBIN MINNEAPOLIS-LAOS Supplemental_disease_name DISEASE_NAME:hemoglobin_mito Hemoglobin Mito Supplemental_disease_name DISEASE_NAME:hemoglobin_miyada HEMOGLOBIN MIYADA Supplemental_disease_name DISEASE_NAME:hemoglobin_miyano Hemoglobin Miyano Supplemental_disease_name DISEASE_NAME:hemoglobin_miyashiro HEMOGLOBIN MIYASHIRO Supplemental_disease_name DISEASE_NAME:hemoglobin_mizuho HEMOGLOBIN MIZUHO Supplemental_disease_name DISEASE_NAME:hemoglobin_mizunami HEMOGLOBIN MIZUNAMI Supplemental_disease_name DISEASE_NAME:hemoglobin_mizushi HEMOGLOBIN MIZUSHI Supplemental_disease_name DISEASE_NAME:hemoglobin_moabit HEMOGLOBIN MOABIT Supplemental_disease_name DISEASE_NAME:hemoglobin_mobile HEMOGLOBIN MOBILE Supplemental_disease_name DISEASE_NAME:hemoglobin_molfetta HEMOGLOBIN MOLFETTA Supplemental_disease_name DISEASE_NAME:hemoglobin_mont_saint_aignan HEMOGLOBIN MONT SAINT-AIGNAN Supplemental_disease_name DISEASE_NAME:hemoglobin_montefiore HEMOGLOBIN MONTEFIORE Supplemental_disease_name DISEASE_NAME:hemoglobin_montgomery HEMOGLOBIN MONTGOMERY Supplemental_disease_name DISEASE_NAME:hemoglobin_montreal HEMOGLOBIN MONTREAL Supplemental_disease_name DISEASE_NAME:hemoglobin_moriguchi HEMOGLOBIN MORIGUCHI Supplemental_disease_name DISEASE_NAME:hemoglobin_moscva HEMOGLOBIN MOSCVA Supplemental_disease_name DISEASE_NAME:hemoglobin_mosella HEMOGLOBIN MOSELLA Supplemental_disease_name DISEASE_NAME:hemoglobin_motown HEMOGLOBIN MOTOWN Supplemental_disease_name DISEASE_NAME:hemoglobin_mozhaisk HEMOGLOBIN MOZHAISK Supplemental_disease_name DISEASE_NAME:hemoglobin_mugino HEMOGLOBIN MUGINO Supplemental_disease_name DISEASE_NAME:hemoglobin_munakata HEMOGLOBIN MUNAKATA Supplemental_disease_name DISEASE_NAME:hemoglobin_muscat HEMOGLOBIN MUSCAT Supplemental_disease_name DISEASE_NAME:hemoglobin_muskegon HEMOGLOBIN MUSKEGON Supplemental_disease_name DISEASE_NAME:hemoglobin_n_baltimore HEMOGLOBIN N (BALTIMORE) Supplemental_disease_name DISEASE_NAME:hemoglobin_n_beta_type HEMOGLOBIN N, BETA TYPE Supplemental_disease_name DISEASE_NAME:hemoglobin_n_cosenza HEMOGLOBIN N (COSENZA) Supplemental_disease_name DISEASE_NAME:hemoglobin_n_jenkins HEMOGLOBIN N (JENKINS) Supplemental_disease_name DISEASE_NAME:hemoglobin_n_memphis HEMOGLOBIN N (MEMPHIS) Supplemental_disease_name DISEASE_NAME:hemoglobin_n_seattle HEMOGLOBIN N (SEATTLE) Supplemental_disease_name DISEASE_NAME:hemoglobin_n_timone HEMOGLOBIN N (TIMONE) Supplemental_disease_name DISEASE_NAME:hemoglobin_nagasaki HEMOGLOBIN NAGASAKI Supplemental_disease_name DISEASE_NAME:hemoglobin_nagoya HEMOGLOBIN NAGOYA Supplemental_disease_name DISEASE_NAME:hemoglobin_nakano HEMOGLOBIN NAKANO Supplemental_disease_name DISEASE_NAME:hemoglobin_natal HEMOGLOBIN NATAL Supplemental_disease_name DISEASE_NAME:hemoglobin_necker_enfants_malades HEMOGLOBIN NECKER ENFANTS-MALADES Supplemental_disease_name DISEASE_NAME:hemoglobin_nevers Hemoglobin Nevers Supplemental_disease_name DISEASE_NAME:hemoglobin_new_mexico HEMOGLOBIN NEW MEXICO Supplemental_disease_name DISEASE_NAME:hemoglobin_newcastle HEMOGLOBIN NEWCASTLE Supplemental_disease_name DISEASE_NAME:hemoglobin_nigeria Hemoglobin Nigeria Supplemental_disease_name DISEASE_NAME:hemoglobin_nijkerk HEMOGLOBIN NIJKERK Supplemental_disease_name DISEASE_NAME:hemoglobin_nikaia HEMOGLOBIN NIKAIA Supplemental_disease_name DISEASE_NAME:hemoglobin_nikosia HEMOGLOBIN NIKOSIA Supplemental_disease_name DISEASE_NAME:hemoglobin_nishik HEMOGLOBIN NISHIK Supplemental_disease_name DISEASE_NAME:hemoglobin_niteroi HEMOGLOBIN NITEROI Supplemental_disease_name DISEASE_NAME:hemoglobin_noko HEMOGLOBIN NOKO Supplemental_disease_name DISEASE_NAME:hemoglobin_norfolk HEMOGLOBIN NORFOLK Supplemental_disease_name DISEASE_NAME:hemoglobin_north_chicago HEMOGLOBIN NORTH CHICAGO Supplemental_disease_name DISEASE_NAME:hemoglobin_norton HEMOGLOBIN NORTON Supplemental_disease_name DISEASE_NAME:hemoglobin_nottingham HEMOGLOBIN NOTTINGHAM Supplemental_disease_name DISEASE_NAME:hemoglobin_nouakchott HEMOGLOBIN NOUAKCHOTT Supplemental_disease_name DISEASE_NAME:hemoglobin_nunobiki HEMOGLOBIN NUNOBIKI Supplemental_disease_name DISEASE_NAME:hemoglobin_nyu HEMOGLOBIN NYU Supplemental_disease_name DISEASE_NAME:hemoglobin_o_arab HEMOGLOBIN O (ARAB) Supplemental_disease_name DISEASE_NAME:hemoglobin_o_buginese_x HEMOGLOBIN O (BUGINESE-X) Supplemental_disease_name DISEASE_NAME:hemoglobin_o_indonesia HEMOGLOBIN O (INDONESIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_o_oliviere HEMOGLOBIN O (OLIVIERE) Supplemental_disease_name DISEASE_NAME:hemoglobin_o_padova HEMOGLOBIN O (PADOVA) Supplemental_disease_name DISEASE_NAME:hemoglobin_ocho_rios HEMOGLOBIN OCHO RIOS Supplemental_disease_name DISEASE_NAME:hemoglobin_oegstgeest HEMOGLOBIN OEGSTGEEST Supplemental_disease_name DISEASE_NAME:hemoglobin_ogi HEMOGLOBIN OGI Supplemental_disease_name DISEASE_NAME:hemoglobin_ohio HEMOGLOBIN OHIO Supplemental_disease_name DISEASE_NAME:hemoglobin_oita HEMOGLOBIN OITA Supplemental_disease_name DISEASE_NAME:hemoglobin_okaloosa HEMOGLOBIN OKALOOSA Supplemental_disease_name DISEASE_NAME:hemoglobin_okayama HEMOGLOBIN OKAYAMA Supplemental_disease_name DISEASE_NAME:hemoglobin_okazaki HEMOGLOBIN OKAZAKI Supplemental_disease_name DISEASE_NAME:hemoglobin_oleander HEMOGLOBIN OLEANDER Supplemental_disease_name DISEASE_NAME:hemoglobin_oliviere HEMOGLOBIN OLIVIERE Supplemental_disease_name DISEASE_NAME:hemoglobin_olmsted HEMOGLOBIN OLMSTED Supplemental_disease_name DISEASE_NAME:hemoglobin_olomouc HEMOGLOBIN OLOMOUC Supplemental_disease_name DISEASE_NAME:hemoglobin_olympia HEMOGLOBIN OLYMPIA Supplemental_disease_name DISEASE_NAME:hemoglobin_ottawa HEMOGLOBIN OTTAWA Supplemental_disease_name DISEASE_NAME:hemoglobin_owari HEMOGLOBIN OWARI Supplemental_disease_name DISEASE_NAME:hemoglobin_ozieri HEMOGLOBIN OZIERI Supplemental_disease_name DISEASE_NAME:hemoglobin_p HEMOGLOBIN P Supplemental_disease_name DISEASE_NAME:hemoglobin_p_congo HEMOGLOBIN P (CONGO) Supplemental_disease_name DISEASE_NAME:hemoglobin_p_galveston HEMOGLOBIN P (GALVESTON) Supplemental_disease_name DISEASE_NAME:hemoglobin_p_nilotic HEMOGLOBIN P (NILOTIC) Supplemental_disease_name DISEASE_NAME:hemoglobin_palmerston_north HEMOGLOBIN PALMERSTON NORTH Supplemental_disease_name DISEASE_NAME:hemoglobin_park_ridge HEMOGLOBIN PARK RIDGE Supplemental_disease_name DISEASE_NAME:hemoglobin_part_dieu HEMOGLOBIN PART-DIEU Supplemental_disease_name DISEASE_NAME:hemoglobin_pasadena HEMOGLOBIN PASADENA Supplemental_disease_name DISEASE_NAME:hemoglobin_passy Hemoglobin Passy Supplemental_disease_name DISEASE_NAME:hemoglobin_pavie HEMOGLOBIN PAVIE Supplemental_disease_name DISEASE_NAME:hemoglobin_perspolis HEMOGLOBIN PERSPOLIS Supplemental_disease_name DISEASE_NAME:hemoglobin_perth HEMOGLOBIN PERTH Supplemental_disease_name DISEASE_NAME:hemoglobin_petah_tikva HEMOGLOBIN PETAH TIKVA Supplemental_disease_name DISEASE_NAME:hemoglobin_peterborough HEMOGLOBIN PETERBOROUGH Supplemental_disease_name DISEASE_NAME:hemoglobin_philly Hemoglobin Philly Supplemental_disease_name DISEASE_NAME:hemoglobin_pierre_benite HEMOGLOBIN PIERRE-BENITE Supplemental_disease_name DISEASE_NAME:hemoglobin_plasencia HEMOGLOBIN PLASENCIA Supplemental_disease_name DISEASE_NAME:hemoglobin_pocos_de_caldas HEMOGLOBIN POCOS DE CALDAS Supplemental_disease_name DISEASE_NAME:hemoglobin_poitiers HEMOGLOBIN POITIERS Supplemental_disease_name DISEASE_NAME:hemoglobin_pontoise HEMOGLOBIN PONTOISE Supplemental_disease_name DISEASE_NAME:hemoglobin_port_huron HEMOGLOBIN PORT HURON Supplemental_disease_name DISEASE_NAME:hemoglobin_port_phillip HEMOGLOBIN PORT PHILLIP Supplemental_disease_name DISEASE_NAME:hemoglobin_porto_alegre Hemoglobin Porto Alegre Supplemental_disease_name DISEASE_NAME:hemoglobin_potomac HEMOGLOBIN POTOMAC Supplemental_disease_name DISEASE_NAME:hemoglobin_presbyterian HEMOGLOBIN PRESBYTERIAN Supplemental_disease_name DISEASE_NAME:hemoglobin_providence HEMOGLOBIN PROVIDENCE Supplemental_disease_name DISEASE_NAME:hemoglobin_puttelange HEMOGLOBIN PUTTELANGE Supplemental_disease_name DISEASE_NAME:hemoglobin_pyrgos HEMOGLOBIN PYRGOS Supplemental_disease_name DISEASE_NAME:hemoglobin_q HEMOGLOBIN Q Supplemental_disease_name DISEASE_NAME:hemoglobin_q_india HEMOGLOBIN Q (INDIA) Supplemental_disease_name DISEASE_NAME:hemoglobin_q_iran HEMOGLOBIN Q (IRAN) Supplemental_disease_name DISEASE_NAME:hemoglobin_q_thailand HEMOGLOBIN Q (THAILAND) Supplemental_disease_name DISEASE_NAME:hemoglobin_queens HEMOGLOBIN QUEENS Supplemental_disease_name DISEASE_NAME:hemoglobin_questembert Hemoglobin Questembert Supplemental_disease_name DISEASE_NAME:hemoglobin_quin_hai HEMOGLOBIN QUIN-HAI Supplemental_disease_name DISEASE_NAME:hemoglobin_quong_sze Hemoglobin Quong Sze Supplemental_disease_name DISEASE_NAME:hemoglobin_radcliffe HEMOGLOBIN RADCLIFFE Supplemental_disease_name DISEASE_NAME:hemoglobin_rahere Hemoglobin Rahere Supplemental_disease_name DISEASE_NAME:hemoglobin_rainier Hemoglobin Rainier Supplemental_disease_name DISEASE_NAME:hemoglobin_raleigh HEMOGLOBIN RALEIGH Supplemental_disease_name DISEASE_NAME:hemoglobin_ramona Hemoglobin Ramona Supplemental_disease_name DISEASE_NAME:hemoglobin_rampa HEMOGLOBIN RAMPA Supplemental_disease_name DISEASE_NAME:hemoglobin_rancho_mirage HEMOGLOBIN RANCHO MIRAGE Supplemental_disease_name DISEASE_NAME:hemoglobin_randwick HEMOGLOBIN RANDWICK Supplemental_disease_name DISEASE_NAME:hemoglobin_regina HEMOGLOBIN REGINA Supplemental_disease_name DISEASE_NAME:hemoglobin_reims HEMOGLOBIN REIMS Supplemental_disease_name DISEASE_NAME:hemoglobin_renert HEMOGLOBIN RENERT Supplemental_disease_name DISEASE_NAME:hemoglobin_riccarton HEMOGLOBIN RICCARTON Supplemental_disease_name DISEASE_NAME:hemoglobin_richmond HEMOGLOBIN RICHMOND Supplemental_disease_name DISEASE_NAME:hemoglobin_rio_claro HEMOGLOBIN RIO CLARO Supplemental_disease_name DISEASE_NAME:hemoglobin_rio_grande HEMOGLOBIN RIO GRANDE Supplemental_disease_name DISEASE_NAME:hemoglobin_riverdale_bronx HEMOGLOBIN RIVERDALE-BRONX Supplemental_disease_name DISEASE_NAME:hemoglobin_roanne HEMOGLOBIN ROANNE Supplemental_disease_name DISEASE_NAME:hemoglobin_rockford HEMOGLOBIN ROCKFORD Supplemental_disease_name DISEASE_NAME:hemoglobin_roseau_pointe_a_pitre HEMOGLOBIN ROSEAU-POINTE A PITRE Supplemental_disease_name DISEASE_NAME:hemoglobin_rothschild HEMOGLOBIN ROTHSCHILD Supplemental_disease_name DISEASE_NAME:hemoglobin_roubaix HEMOGLOBIN ROUBAIX Supplemental_disease_name DISEASE_NAME:hemoglobin_rouen Hemoglobin Rouen Supplemental_disease_name DISEASE_NAME:hemoglobin_rush HEMOGLOBIN RUSH Supplemental_disease_name DISEASE_NAME:hemoglobin_russ HEMOGLOBIN RUSS Supplemental_disease_name DISEASE_NAME:hemoglobin_s HEMOGLOBIN S Supplemental_disease_name DISEASE_NAME:hemoglobin_saale Hemoglobin Saale Supplemental_disease_name DISEASE_NAME:hemoglobin_sabine HEMOGLOBIN SABINE Supplemental_disease_name DISEASE_NAME:hemoglobin_sagami HEMOGLOBIN SAGAMI Supplemental_disease_name DISEASE_NAME:hemoglobin_saint_etienne HEMOGLOBIN SAINT ETIENNE Supplemental_disease_name DISEASE_NAME:hemoglobin_saint_jacques HEMOGLOBIN SAINT JACQUES Supplemental_disease_name DISEASE_NAME:hemoglobin_saint_nazaire HEMOGLOBIN SAINT NAZAIRE Supplemental_disease_name DISEASE_NAME:hemoglobin_saitama HEMOGLOBIN SAITAMA Supplemental_disease_name DISEASE_NAME:hemoglobin_saki HEMOGLOBIN SAKI Supplemental_disease_name DISEASE_NAME:hemoglobin_sallanches HEMOGLOBIN SALLANCHES Supplemental_disease_name DISEASE_NAME:hemoglobin_san_antonio HEMOGLOBIN SAN ANTONIO Supplemental_disease_name DISEASE_NAME:hemoglobin_san_diego HEMOGLOBIN SAN DIEGO Supplemental_disease_name DISEASE_NAME:hemoglobin_santa_ana HEMOGLOBIN SANTA ANA Supplemental_disease_name DISEASE_NAME:hemoglobin_santa_clara HEMOGLOBIN SANTA CLARA Supplemental_disease_name DISEASE_NAME:hemoglobin_santander HEMOGLOBIN SANTANDER Supplemental_disease_name DISEASE_NAME:hemoglobin_saratoga_springs HEMOGLOBIN SARATOGA SPRINGS Supplemental_disease_name DISEASE_NAME:hemoglobin_sarrebourg HEMOGLOBIN SARREBOURG Supplemental_disease_name DISEASE_NAME:hemoglobin_sassari HEMOGLOBIN SASSARI Supplemental_disease_name DISEASE_NAME:hemoglobin_savannah HEMOGLOBIN SAVANNAH Supplemental_disease_name DISEASE_NAME:hemoglobin_savaria Hemoglobin Savaria Supplemental_disease_name DISEASE_NAME:hemoglobin_saverne HEMOGLOBIN SAVERNE Supplemental_disease_name DISEASE_NAME:hemoglobin_sawara HEMOGLOBIN SAWARA Supplemental_disease_name DISEASE_NAME:hemoglobin_seal_rock HEMOGLOBIN SEAL ROCK Supplemental_disease_name DISEASE_NAME:hemoglobin_sealy HEMOGLOBIN SEALY Supplemental_disease_name DISEASE_NAME:hemoglobin_seattle HEMOGLOBIN SEATTLE Supplemental_disease_name DISEASE_NAME:hemoglobin_serbia HEMOGLOBIN SERBIA Supplemental_disease_name DISEASE_NAME:hemoglobin_setif HEMOGLOBIN SETIF Supplemental_disease_name DISEASE_NAME:hemoglobin_shaare_zedek HEMOGLOBIN SHAARE ZEDEK Supplemental_disease_name DISEASE_NAME:hemoglobin_shanghai HEMOGLOBIN SHANGHAI Supplemental_disease_name DISEASE_NAME:hemoglobin_shelby HEMOGLOBIN SHELBY Supplemental_disease_name DISEASE_NAME:hemoglobin_shenyang HEMOGLOBIN SHENYANG Supplemental_disease_name DISEASE_NAME:hemoglobin_shepherds_bush HEMOGLOBIN SHEPHERDS BUSH Supplemental_disease_name DISEASE_NAME:hemoglobin_sherwood_forest HEMOGLOBIN SHERWOOD FOREST Supplemental_disease_name DISEASE_NAME:hemoglobin_shimonoseki HEMOGLOBIN SHIMONOSEKI Supplemental_disease_name DISEASE_NAME:hemoglobin_showa_yakushiji HEMOGLOBIN SHOWA-YAKUSHIJI Supplemental_disease_name DISEASE_NAME:hemoglobin_shuangfeng HEMOGLOBIN SHUANGFENG Supplemental_disease_name DISEASE_NAME:hemoglobin_siam HEMOGLOBIN SIAM Supplemental_disease_name DISEASE_NAME:hemoglobin_silver_springs HEMOGLOBIN SILVER SPRINGS Supplemental_disease_name DISEASE_NAME:hemoglobin_sinai HEMOGLOBIN SINAI Supplemental_disease_name DISEASE_NAME:hemoglobin_singapore HEMOGLOBIN SINGAPORE Supplemental_disease_name DISEASE_NAME:hemoglobin_sitia HEMOGLOBIN SITIA Supplemental_disease_name DISEASE_NAME:hemoglobin_sogn HEMOGLOBIN SOGN Supplemental_disease_name DISEASE_NAME:hemoglobin_south_florida HEMOGLOBIN SOUTH FLORIDA Supplemental_disease_name DISEASE_NAME:hemoglobin_south_milwaukee HEMOGLOBIN SOUTH MILWAUKEE Supplemental_disease_name DISEASE_NAME:hemoglobin_southampton HEMOGLOBIN SOUTHAMPTON Supplemental_disease_name DISEASE_NAME:hemoglobin_spanish_town HEMOGLOBIN SPANISH TOWN Supplemental_disease_name DISEASE_NAME:hemoglobin_sparta HEMOGLOBIN SPARTA Supplemental_disease_name DISEASE_NAME:hemoglobin_st_antoine HEMOGLOBIN ST. ANTOINE Supplemental_disease_name DISEASE_NAME:hemoglobin_st_claude HEMOGLOBIN ST. CLAUDE Supplemental_disease_name DISEASE_NAME:hemoglobin_st_francis HEMOGLOBIN ST. FRANCIS Supplemental_disease_name DISEASE_NAME:hemoglobin_st_louis HEMOGLOBIN ST. LOUIS Supplemental_disease_name DISEASE_NAME:hemoglobin_st_luke_s HEMOGLOBIN ST. LUKE'S Supplemental_disease_name DISEASE_NAME:hemoglobin_st_mande HEMOGLOBIN ST. MANDE Supplemental_disease_name DISEASE_NAME:hemoglobin_stanleyville_i HEMOGLOBIN STANLEYVILLE-I Supplemental_disease_name DISEASE_NAME:hemoglobin_stanleyville_ii HEMOGLOBIN STANLEYVILLE-II Supplemental_disease_name DISEASE_NAME:hemoglobin_stanmore HEMOGLOBIN STANMORE Supplemental_disease_name DISEASE_NAME:hemoglobin_strasbourg HEMOGLOBIN STRASBOURG Supplemental_disease_name DISEASE_NAME:hemoglobin_strumica HEMOGLOBIN STRUMICA Supplemental_disease_name DISEASE_NAME:hemoglobin_suan_dok HEMOGLOBIN SUAN-DOK Supplemental_disease_name DISEASE_NAME:hemoglobin_summer_hill HEMOGLOBIN SUMMER HILL Supplemental_disease_name DISEASE_NAME:hemoglobin_sun_prairie HEMOGLOBIN SUN PRAIRIE Supplemental_disease_name DISEASE_NAME:hemoglobin_sunnybrook HEMOGLOBIN SUNNYBROOK Supplemental_disease_name DISEASE_NAME:hemoglobin_sunshine_seth HEMOGLOBIN SUNSHINE SETH Supplemental_disease_name DISEASE_NAME:hemoglobin_suresnes HEMOGLOBIN SURESNES Supplemental_disease_name DISEASE_NAME:hemoglobin_swan_river HEMOGLOBIN SWAN RIVER Supplemental_disease_name DISEASE_NAME:hemoglobin_sydney HEMOGLOBIN SYDNEY Supplemental_disease_name DISEASE_NAME:hemoglobin_syracuse HEMOGLOBIN SYRACUSE Supplemental_disease_name DISEASE_NAME:hemoglobin_t_lange_land HEMOGLOBIN 'T LANGE LAND Supplemental_disease_name DISEASE_NAME:hemoglobin_ta_li HEMOGLOBIN TA-LI Supplemental_disease_name DISEASE_NAME:hemoglobin_tagawa_i HEMOGLOBIN TAGAWA I Supplemental_disease_name DISEASE_NAME:hemoglobin_tagawa_ii HEMOGLOBIN TAGAWA II Supplemental_disease_name DISEASE_NAME:hemoglobin_tak HEMOGLOBIN TAK Supplemental_disease_name DISEASE_NAME:hemoglobin_takamatsu HEMOGLOBIN TAKAMATSU Supplemental_disease_name DISEASE_NAME:hemoglobin_tamano HEMOGLOBIN TAMANO Supplemental_disease_name DISEASE_NAME:hemoglobin_tampa HEMOGLOBIN TAMPA Supplemental_disease_name DISEASE_NAME:hemoglobin_tarrant HEMOGLOBIN TARRANT Supplemental_disease_name DISEASE_NAME:hemoglobin_tatras HEMOGLOBIN TATRAS Supplemental_disease_name DISEASE_NAME:hemoglobin_taybe HEMOGLOBIN TAYBE Supplemental_disease_name DISEASE_NAME:hemoglobin_tende HEMOGLOBIN TENDE Supplemental_disease_name DISEASE_NAME:hemoglobin_terre_haute HEMOGLOBIN TERRE HAUTE Supplemental_disease_name DISEASE_NAME:hemoglobin_thailand HEMOGLOBIN THAILAND Supplemental_disease_name DISEASE_NAME:hemoglobin_thionville HEMOGLOBIN THIONVILLE Supplemental_disease_name DISEASE_NAME:hemoglobin_tianshui HEMOGLOBIN TIANSHUI Supplemental_disease_name DISEASE_NAME:hemoglobin_tigraye HEMOGLOBIN TIGRAYE Supplemental_disease_name DISEASE_NAME:hemoglobin_tilburg HEMOGLOBIN TILBURG Supplemental_disease_name DISEASE_NAME:hemoglobin_titusville HEMOGLOBIN TITUSVILLE Supplemental_disease_name DISEASE_NAME:hemoglobin_tizi_ouzou HEMOGLOBIN TIZI-OUZOU Supplemental_disease_name DISEASE_NAME:hemoglobin_tochigi HEMOGLOBIN TOCHIGI Supplemental_disease_name DISEASE_NAME:hemoglobin_tokoname HEMOGLOBIN TOKONAME Supplemental_disease_name DISEASE_NAME:hemoglobin_tokuchi HEMOGLOBIN TOKUCHI Supplemental_disease_name DISEASE_NAME:hemoglobin_tokyo HEMOGLOBIN TOKYO Supplemental_disease_name DISEASE_NAME:hemoglobin_tonosho HEMOGLOBIN TONOSHO Supplemental_disease_name DISEASE_NAME:hemoglobin_torino HEMOGLOBIN TORINO Supplemental_disease_name DISEASE_NAME:hemoglobin_tottori HEMOGLOBIN TOTTORI Supplemental_disease_name DISEASE_NAME:hemoglobin_toulon HEMOGLOBIN TOULON Supplemental_disease_name DISEASE_NAME:hemoglobin_tours HEMOGLOBIN TOURS Supplemental_disease_name DISEASE_NAME:hemoglobin_toyama HEMOGLOBIN TOYAMA Supplemental_disease_name DISEASE_NAME:hemoglobin_toyoake HEMOGLOBIN TOYOAKE Supplemental_disease_name DISEASE_NAME:hemoglobin_trento HEMOGLOBIN TRENTO Supplemental_disease_name DISEASE_NAME:hemoglobin_tripoli HEMOGLOBIN TRIPOLI Supplemental_disease_name DISEASE_NAME:hemoglobin_trollhaettan HEMOGLOBIN TROLLHAETTAN Supplemental_disease_name DISEASE_NAME:hemoglobin_tsukumi HEMOGLOBIN TSUKUMI Supplemental_disease_name DISEASE_NAME:hemoglobin_tsurumai Hemoglobin Tsurumai Supplemental_disease_name DISEASE_NAME:hemoglobin_tunis HEMOGLOBIN TUNIS Supplemental_disease_name DISEASE_NAME:hemoglobin_tunis_bizerte HEMOGLOBIN TUNIS-BIZERTE Supplemental_disease_name DISEASE_NAME:hemoglobin_turriff HEMOGLOBIN TURRIFF Supplemental_disease_name DISEASE_NAME:hemoglobin_twin_peaks HEMOGLOBIN TWIN PEAKS Supplemental_disease_name DISEASE_NAME:hemoglobin_ty_gard HEMOGLOBIN TY GARD Supplemental_disease_name DISEASE_NAME:hemoglobin_tyne HEMOGLOBIN TYNE Supplemental_disease_name DISEASE_NAME:hemoglobin_ube_2 HEMOGLOBIN UBE-2 Supplemental_disease_name DISEASE_NAME:hemoglobin_ube_4 HEMOGLOBIN UBE-4 Supplemental_disease_name DISEASE_NAME:hemoglobin_umi HEMOGLOBIN UMI Supplemental_disease_name DISEASE_NAME:hemoglobin_uppsala HEMOGLOBIN UPPSALA Supplemental_disease_name DISEASE_NAME:hemoglobin_utsunomiya HEMOGLOBIN UTSUNOMIYA Supplemental_disease_name DISEASE_NAME:hemoglobin_vaasa HEMOGLOBIN VAASA Supplemental_disease_name DISEASE_NAME:hemoglobin_val_de_marne Hemoglobin Val de Marne Supplemental_disease_name DISEASE_NAME:hemoglobin_valletta Hemoglobin Valletta Supplemental_disease_name DISEASE_NAME:hemoglobin_vancouver HEMOGLOBIN VANCOUVER Supplemental_disease_name DISEASE_NAME:hemoglobin_vanderbilt HEMOGLOBIN VANDERBILT Supplemental_disease_name DISEASE_NAME:hemoglobin_vicksburg HEMOGLOBIN VICKSBURG Supplemental_disease_name DISEASE_NAME:hemoglobin_vila_real HEMOGLOBIN VILA REAL Supplemental_disease_name DISEASE_NAME:hemoglobin_villaverde Hemoglobin Villaverde Supplemental_disease_name DISEASE_NAME:hemoglobin_villejuif Hemoglobin Villejuif Supplemental_disease_name DISEASE_NAME:hemoglobin_villeurbanne HEMOGLOBIN VILLEURBANNE Supplemental_disease_name DISEASE_NAME:hemoglobin_volga HEMOGLOBIN VOLGA Supplemental_disease_name DISEASE_NAME:hemoglobin_warwickshire HEMOGLOBIN WARWICKSHIRE Supplemental_disease_name DISEASE_NAME:hemoglobin_washtenaw HEMOGLOBIN WASHTENAW Supplemental_disease_name DISEASE_NAME:hemoglobin_watford HEMOGLOBIN WATFORD Supplemental_disease_name DISEASE_NAME:hemoglobin_watts HEMOGLOBIN WATTS Supplemental_disease_name DISEASE_NAME:hemoglobin_wayne HEMOGLOBIN WAYNE Supplemental_disease_name DISEASE_NAME:hemoglobin_westmead HEMOGLOBIN WESTMEAD Supplemental_disease_name DISEASE_NAME:hemoglobin_wien Hemoglobin Wien Supplemental_disease_name DISEASE_NAME:hemoglobin_willamette HEMOGLOBIN WILLAMETTE Supplemental_disease_name DISEASE_NAME:hemoglobin_windsor HEMOGLOBIN WINDSOR Supplemental_disease_name DISEASE_NAME:hemoglobin_winnipeg HEMOGLOBIN WINNIPEG Supplemental_disease_name DISEASE_NAME:hemoglobin_wood HEMOGLOBIN WOOD Supplemental_disease_name DISEASE_NAME:hemoglobin_woodville HEMOGLOBIN WOODVILLE Supplemental_disease_name DISEASE_NAME:hemoglobin_wuming HEMOGLOBIN WUMING Supplemental_disease_name DISEASE_NAME:hemoglobin_yahata HEMOGLOBIN YAHATA Supplemental_disease_name DISEASE_NAME:hemoglobin_yaizu HEMOGLOBIN YAIZU Supplemental_disease_name DISEASE_NAME:hemoglobin_yakima HEMOGLOBIN YAKIMA Supplemental_disease_name DISEASE_NAME:hemoglobin_yamagata HEMOGLOBIN YAMAGATA Supplemental_disease_name DISEASE_NAME:hemoglobin_yaounde HEMOGLOBIN YAOUNDE Supplemental_disease_name DISEASE_NAME:hemoglobin_yatsushiro HEMOGLOBIN YATSUSHIRO Supplemental_disease_name DISEASE_NAME:hemoglobin_yokohama HEMOGLOBIN YOKOHAMA Supplemental_disease_name DISEASE_NAME:hemoglobin_york HEMOGLOBIN YORK Supplemental_disease_name DISEASE_NAME:hemoglobin_yoshizuka HEMOGLOBIN YOSHIZUKA Supplemental_disease_name DISEASE_NAME:hemoglobin_ypsilanti HEMOGLOBIN YPSILANTI Supplemental_disease_name DISEASE_NAME:hemoglobin_yuda HEMOGLOBIN YUDA Supplemental_disease_name DISEASE_NAME:hemoglobin_yukuhashi_2 HEMOGLOBIN YUKUHASHI-2 Supplemental_disease_name DISEASE_NAME:hemoglobin_yusa HEMOGLOBIN YUSA Supplemental_disease_name DISEASE_NAME:hemoglobin_zaire HEMOGLOBIN ZAIRE Supplemental_disease_name DISEASE_NAME:hemoglobin_zambia HEMOGLOBIN ZAMBIA Supplemental_disease_name DISEASE_NAME:hemoglobin_zengcheng HEMOGLOBIN ZENGCHENG Supplemental_disease_name DISEASE_NAME:hemoglobin_zoeterwoude HEMOGLOBIN ZOETERWOUDE Supplemental_disease_name DISEASE_NAME:hemoglobin_zurich HEMOGLOBIN ZURICH Supplemental_disease_name DISEASE_NAME:hemoglobin_zurich_albisrieden HEMOGLOBIN ZURICH ALBISRIEDEN Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_decreased_glucosephosphate_isomerase_level Hemolytic anemia;Decreased glucosephosphate isomerase level Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_adenylate_kinase_deficiency Hemolytic anemia due to adenylate kinase deficiency Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_erythrocyte_adenosine_deaminase_overproduction Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_erythrocyte_adenosine_deaminase_overproduction_transient_myeloproliferative_syndrome_thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia_x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia_beta_thalassemia_x_linked_thrombocytopenia_syndrome Hemolytic anemia due to erythrocyte adenosine deaminase overproduction;Transient myeloproliferative syndrome;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia;Beta-thalassemia-X-linked thrombocytopenia syndrome Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_erythrocyte_adenosine_deaminase_overproduction_x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia_transient_myeloproliferative_syndrome_beta_thalassemia_x_linked_thrombocytopenia_syndrome_thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia Hemolytic anemia due to erythrocyte adenosine deaminase overproduction;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia;Transient myeloproliferative syndrome;Beta-thalassemia-X-linked thrombocytopenia syndrome;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_erythrocyte_adenosine_deaminase_overproduction_x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia_transient_myeloproliferative_syndrome_thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia_beta_thalassemia_x_linked_thrombocytopenia_syndrome Hemolytic anemia due to erythrocyte adenosine deaminase overproduction;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia;Transient myeloproliferative syndrome;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;Beta-thalassemia-X-linked thrombocytopenia syndrome Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_glucophosphate_isomerase_deficiency Hemolytic anemia due to glucophosphate isomerase deficiency Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_glutathione_reductase_deficiency Hemolytic anemia due to glutathione reductase deficiency Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_hexokinase_deficiency Hemolytic anemia due to hexokinase deficiency Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_hexokinase_deficiency_charcot_marie_tooth_disease_type_4g_neurodevelopmental_disorder_with_visual_defects_and_brain_anomalies_retinitis_pigmentosa_79 Hemolytic anemia due to hexokinase deficiency;Charcot-Marie-Tooth disease type 4G;Neurodevelopmental disorder with visual defects and brain anomalies;Retinitis pigmentosa 79 Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_due_to_pyrimidine_5_nucleotidase_deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Supplemental_disease_name DISEASE_NAME:hemolytic_anemia_g6pd_deficient_favism Hemolytic anemia, G6PD deficient (favism) Supplemental_disease_name DISEASE_NAME:hemolytic_disease_of_fetus_and_newborn_rh_induced Hemolytic disease of fetus and newborn, RH-induced Supplemental_disease_name DISEASE_NAME:hemolytic_disease_of_fetus_or_newborn_due_to_isoimmunization Hemolytic disease of fetus OR newborn due to isoimmunization Supplemental_disease_name DISEASE_NAME:hemolytic_disease_of_fetus_or_newborn_due_to_rhd_isoimmunization Hemolytic disease of fetus OR newborn due to RhD isoimmunization Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_8_with_rhizomelic_short_stature Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to Hemolytic uremic syndrome, atypical, susceptibility to Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to_1 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to_1_age_related_macular_degeneration_1 Hemolytic uremic syndrome, atypical, susceptibility to, 1;Age related macular degeneration 1 Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to_1_age_related_macular_degeneration_4_basal_laminar_drusen_factor_h_deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1;Age related macular degeneration 4;Basal laminar drusen;Factor H deficiency Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to_1_age_related_macular_degeneration_4_factor_h_deficiency_basal_laminar_drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1;Age related macular degeneration 4;Factor H deficiency;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to_1_basal_laminar_drusen_age_related_macular_degeneration_4_factor_h_deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen;Age related macular degeneration 4;Factor H deficiency Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to_1_basal_laminar_drusen_factor_h_deficiency_age_related_macular_degeneration_4 Hemolytic uremic syndrome, atypical, susceptibility to, 1;Basal laminar drusen;Factor H deficiency;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to_1_factor_h_deficiency_age_related_macular_degeneration_4_basal_laminar_drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency;Age related macular degeneration 4;Basal laminar drusen Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to_1_factor_h_deficiency_basal_laminar_drusen_age_related_macular_degeneration_4 Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency;Basal laminar drusen;Age related macular degeneration 4 Supplemental_disease_name DISEASE_NAME:hemolytic_uremic_syndrome_atypical_susceptibility_to_7 Hemolytic uremic syndrome, atypical, susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:hemophagocytic_lymphohistiocytosis_familial_2_susceptibility_to Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to Supplemental_disease_name DISEASE_NAME:hemophagocytic_lymphohistiocytosis_familial_5_without_microvillus_inclusion_disease HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE Supplemental_disease_name DISEASE_NAME:hemophagocytic_lymphohistiocytosis_familial_6 Hemophagocytic lymphohistiocytosis, familial, 6 Supplemental_disease_name DISEASE_NAME:hemophagocytosis Hemophagocytosis Supplemental_disease_name DISEASE_NAME:hemophilia_b_brandenburg HEMOPHILIA B BRANDENBURG Supplemental_disease_name DISEASE_NAME:hemophilia_b_leyden Hemophilia B leyden Supplemental_disease_name DISEASE_NAME:hemophilia_b_m Hemophilia b(m) Supplemental_disease_name DISEASE_NAME:hemorrhage Hemorrhage Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity_brain_small_vessel_disease_1_with_or_without_ocular_anomalies Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 1 with or without ocular anomalies;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_retinal_arterial_tortuosity Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 1 with or without ocular anomalies;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 1 with or without ocular anomalies;Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_retinal_arterial_tortuosity_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 1 with or without ocular anomalies;Retinal arterial tortuosity;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to_brain_small_vessel_disease_2a_autosomal_dominant Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 2A, autosomal dominant Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to_microvascular_complications_of_diabetes_susceptibility_to_3_renal_tubular_dysgenesis_of_genetic_origin Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin Supplemental_disease_name DISEASE_NAME:hemorrhage_intracerebral_susceptibility_to_renal_tubular_dysgenesis_of_genetic_origin_microvascular_complications_of_diabetes_susceptibility_to_3 Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin;Microvascular complications of diabetes, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:hemorrhagic_disease_due_to_alpha_1_antitrypsin_pittsburgh_mutation Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Supplemental_disease_name DISEASE_NAME:hennekam_lymphangiectasia_lymphedema_syndrome_1 Hennekam lymphangiectasia-lymphedema syndrome 1 Supplemental_disease_name DISEASE_NAME:hennekam_lymphangiectasia_lymphedema_syndrome_2 Hennekam lymphangiectasia-lymphedema syndrome 2 Supplemental_disease_name DISEASE_NAME:hennekam_lymphangiectasia_lymphedema_syndrome_2_van_maldergem_syndrome_2 Hennekam lymphangiectasia-lymphedema syndrome 2;Van Maldergem syndrome 2 Supplemental_disease_name DISEASE_NAME:hennekam_lymphangiectasia_lymphedema_syndrome_3 Hennekam lymphangiectasia-lymphedema syndrome 3 Supplemental_disease_name DISEASE_NAME:hepacam_related_disorder HEPACAM-related disorder Supplemental_disease_name DISEASE_NAME:hepatic_adenomas_familial Hepatic adenomas, familial Supplemental_disease_name DISEASE_NAME:hepatic_cysts_stage_5_chronic_kidney_disease_dilatation_of_the_cerebral_artery Hepatic cysts;Stage 5 chronic kidney disease;Dilatation of the cerebral artery Supplemental_disease_name DISEASE_NAME:hepatic_ductular_hypoplasia Hepatic Ductular Hypoplasia Supplemental_disease_name DISEASE_NAME:hepatic_hemangioma Hepatic hemangioma Supplemental_disease_name DISEASE_NAME:hepatic_ischemic_reperfusion_injury Hepatic ischemic/reperfusion injury Supplemental_disease_name DISEASE_NAME:hepatic_methionine_adenosyltransferase_deficiency Hepatic methionine adenosyltransferase deficiency Supplemental_disease_name DISEASE_NAME:hepatic_veno_occlusive_disease_immunodeficiency_syndrome_mycobacterium_tuberculosis_susceptibility_to Hepatic veno-occlusive disease-immunodeficiency syndrome;Mycobacterium tuberculosis, susceptibility to Supplemental_disease_name DISEASE_NAME:hepatitis_b_virus_resistance_to Hepatitis B virus, resistance to Supplemental_disease_name DISEASE_NAME:hepatitis_b_virus_susceptibility_to Hepatitis B virus, susceptibility to Supplemental_disease_name DISEASE_NAME:hepatitis_b_virus_susceptibility_to_autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency_helicobacter_pylori_infection_susceptibility_to_immunodeficiency_27a_mycobacterium_tuberculosis_susceptibility_to Hepatitis B virus, susceptibility to;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;Helicobacter pylori infection, susceptibility to;Immunodeficiency 27A;Mycobacterium tuberculosis, susceptibility to Supplemental_disease_name DISEASE_NAME:hepatitis_b_virus_susceptibility_to_immunodeficiency_27a_autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency_helicobacter_pylori_infection_susceptibility_to_mycobacterium_tuberculosis_susceptibility_to Hepatitis B virus, susceptibility to;Immunodeficiency 27A;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;Helicobacter pylori infection, susceptibility to;Mycobacterium tuberculosis, susceptibility to Supplemental_disease_name DISEASE_NAME:hepatitis_b_virus_susceptibility_to_immunodeficiency_45 Hepatitis B virus, susceptibility to;Immunodeficiency 45 Supplemental_disease_name DISEASE_NAME:hepatitis_b_virus_susceptibility_to_inflammatory_bowel_disease_25 Hepatitis B virus, susceptibility to;Inflammatory bowel disease 25 Supplemental_disease_name DISEASE_NAME:hepatitis_c_virus_infection Hepatitis C virus infection Supplemental_disease_name DISEASE_NAME:hepatitis_c_virus_infection_response_to_therapy_of Hepatitis C virus infection, response to therapy of Supplemental_disease_name DISEASE_NAME:hepatitis_c_virus_susceptibility_to Hepatitis C virus, susceptibility to Supplemental_disease_name DISEASE_NAME:hepatitis_c_virus_susceptibility_to_immunodeficiency_104 Hepatitis C virus, susceptibility to;Immunodeficiency 104 Supplemental_disease_name DISEASE_NAME:hepatitis_c_virus_susceptibility_to_susceptibility_to_hiv_infection_west_nile_virus_susceptibility_to_type_1_diabetes_mellitus_22 Hepatitis C virus, susceptibility to;Susceptibility to HIV infection;West Nile virus, susceptibility to;Type 1 diabetes mellitus 22 Supplemental_disease_name DISEASE_NAME:hepatitis_fulminant_viral_susceptibility_to Hepatitis, fulminant viral, susceptibility to Supplemental_disease_name DISEASE_NAME:hepatitis_hepatic_steatosis_myopia_fibrosis Hepatitis;Hepatic steatosis;Myopia;Fibrosis Supplemental_disease_name DISEASE_NAME:hepatocellular_cancer Hepatocellular cancer Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97_arthrogryposis_distal_iia_11_osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1 Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97;Arthrogryposis, distal, IIa 11;Osteofibrous dysplasia;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97_osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1 Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97;Osteofibrous dysplasia;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97_osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1_arthrogryposis_distal_iia_11 Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97;Osteofibrous dysplasia;Papillary renal cell carcinoma type 1;Arthrogryposis, distal, IIa 11 Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97_papillary_renal_cell_carcinoma_type_1_osteofibrous_dysplasia Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97;Papillary renal cell carcinoma type 1;Osteofibrous dysplasia Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_familial_adenomatous_polyposis_1_neoplasm_of_stomach_carcinoma_of_colon_desmoid_disease_hereditary Hepatocellular carcinoma;Familial adenomatous polyposis 1;Neoplasm of stomach;Carcinoma of colon;Desmoid disease, hereditary Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_hepatocarcinoma_hepatoma Hepatocellular carcinoma/hepatocarcinoma/hepatoma Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_lung_cancer_familial_cancer_of_breast_autoimmune_lymphoproliferative_syndrome_type_2b Hepatocellular carcinoma;Lung cancer;Familial cancer of breast;Autoimmune lymphoproliferative syndrome type 2B Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_neoplasm_of_stomach_familial_adenomatous_polyposis_1_carcinoma_of_colon_desmoid_disease_hereditary Hepatocellular carcinoma;Neoplasm of stomach;Familial adenomatous polyposis 1;Carcinoma of colon;Desmoid disease, hereditary Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_osteofibrous_dysplasia_autosomal_recessive_nonsyndromic_hearing_loss_97_papillary_renal_cell_carcinoma_type_1 Hepatocellular carcinoma;Osteofibrous dysplasia;Autosomal recessive nonsyndromic hearing loss 97;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1 Hepatocellular carcinoma;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1_osteofibrous_dysplasia_arthrogryposis_distal_iia_11_autosomal_recessive_nonsyndromic_hearing_loss_97 Hepatocellular carcinoma;Papillary renal cell carcinoma type 1;Osteofibrous dysplasia;Arthrogryposis, distal, IIa 11;Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1_osteofibrous_dysplasia_autosomal_recessive_nonsyndromic_hearing_loss_97 Hepatocellular carcinoma;Papillary renal cell carcinoma type 1;Osteofibrous dysplasia;Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1_osteofibrous_dysplasia_autosomal_recessive_nonsyndromic_hearing_loss_97_arthrogryposis_distal_iia_11 Hepatocellular carcinoma;Papillary renal cell carcinoma type 1;Osteofibrous dysplasia;Autosomal recessive nonsyndromic hearing loss 97;Arthrogryposis, distal, IIa 11 Supplemental_disease_name DISEASE_NAME:hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1_combined_oxidative_phosphorylation_deficiency_39 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1;Combined oxidative phosphorylation deficiency 39 Supplemental_disease_name DISEASE_NAME:hepatorenocardiac_degenerative_fibrosis Hepatorenocardiac degenerative fibrosis Supplemental_disease_name DISEASE_NAME:hepatosplenomegaly Hepatosplenomegaly Supplemental_disease_name DISEASE_NAME:hepatosplenomegaly_febrile_seizure_within_the_age_range_of_3_months_to_6_years Hepatosplenomegaly;Febrile seizure (within the age range of 3 months to 6 years) Supplemental_disease_name DISEASE_NAME:hephl1_related_disorder HEPHL1-related disorder Supplemental_disease_name DISEASE_NAME:her2_positive_breast_carcinoma HER2 positive breast carcinoma Supplemental_disease_name DISEASE_NAME:herc1_related_disorder HERC1-related disorder Supplemental_disease_name DISEASE_NAME:herc2_related_disorder HERC2-related disorder Supplemental_disease_name DISEASE_NAME:hereditary_acrodermatitis_enteropathica Hereditary acrodermatitis enteropathica Supplemental_disease_name DISEASE_NAME:hereditary_amyloidosis Hereditary amyloidosis Supplemental_disease_name DISEASE_NAME:hereditary_angioedema_type_1 Hereditary angioedema type 1 Supplemental_disease_name DISEASE_NAME:hereditary_angioedema_type_1_c1_inhibitor_deficiency Hereditary angioedema type 1;C1 inhibitor deficiency Supplemental_disease_name DISEASE_NAME:hereditary_angioedema_type_1_plasminogen_deficiency_type_i Hereditary angioedema type 1;Plasminogen deficiency, type I Supplemental_disease_name DISEASE_NAME:hereditary_angioedema_type_3 Hereditary angioedema type 3 Supplemental_disease_name DISEASE_NAME:hereditary_angioedema_type_3_factor_xii_deficiency_disease Hereditary angioedema type 3;Factor XII deficiency disease Supplemental_disease_name DISEASE_NAME:hereditary_angioedema_types_i_and_ii Hereditary angioedema types I and II Supplemental_disease_name DISEASE_NAME:hereditary_angioedema_with_c1inh_deficiency Hereditary angioedema with C1Inh deficiency Supplemental_disease_name DISEASE_NAME:hereditary_angioedema_with_normal_c1inh Hereditary angioedema with normal C1Inh Supplemental_disease_name DISEASE_NAME:hereditary_antithrombin_deficiency Hereditary antithrombin deficiency Supplemental_disease_name DISEASE_NAME:hereditary_ataxia_chorea Hereditary ataxia;Chorea Supplemental_disease_name DISEASE_NAME:hereditary_attention_deficit_hyperactivity_disorder Hereditary attention deficit-hyperactivity disorder Supplemental_disease_name DISEASE_NAME:hereditary_breast_cancer_abraxas1_related Hereditary breast cancer, ABRAXAS1-related Supplemental_disease_name DISEASE_NAME:hereditary_breast_ovarian_cancer_syndrome_breast_ovarian_cancer_familial_susceptibility_to_1 Hereditary breast ovarian cancer syndrome;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:hereditary_breast_ovarian_cancer_syndrome_breast_ovarian_cancer_familial_susceptibility_to_2 Hereditary breast ovarian cancer syndrome;Breast-ovarian cancer, familial, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:hereditary_breast_ovarian_cancer_syndrome_cowden_syndrome Hereditary breast ovarian cancer syndrome;Cowden syndrome Supplemental_disease_name DISEASE_NAME:hereditary_breast_ovarian_cancer_syndrome_familial_colorectal_cancer_type_x_li_fraumeni_syndrome Hereditary breast ovarian cancer syndrome;Familial colorectal cancer type X;Li-Fraumeni syndrome Supplemental_disease_name DISEASE_NAME:hereditary_breast_ovarian_cancer_syndrome_familial_pancreatic_carcinoma Hereditary breast ovarian cancer syndrome;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:hereditary_breast_ovarian_cancer_syndrome_fanconi_anemia_complementation_group_d1 Hereditary breast ovarian cancer syndrome;Fanconi anemia complementation group D1 Supplemental_disease_name DISEASE_NAME:hereditary_breast_ovarian_cancer_syndrome_li_fraumeni_syndrome_familial_colorectal_cancer_type_x Hereditary breast ovarian cancer syndrome;Li-Fraumeni syndrome;Familial colorectal cancer type X Supplemental_disease_name DISEASE_NAME:hereditary_c1_esterase_inhibitor_deficiency_dysfunctional_factor Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Supplemental_disease_name DISEASE_NAME:hereditary_cancer Hereditary cancer Supplemental_disease_name DISEASE_NAME:hereditary_cancer_predisposing_syndrome Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:hereditary_cancer_predisposing_syndrome_acute_lymphoid_leukemia Hereditary cancer-predisposing syndrome;Acute lymphoid leukemia Supplemental_disease_name DISEASE_NAME:hereditary_cancer_predisposing_syndrome_ataxia_telangiectasia_syndrome Hereditary cancer-predisposing syndrome;Ataxia-telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:hereditary_cancer_predisposing_syndrome_cardiovascular_phenotype Hereditary cancer-predisposing syndrome;Cardiovascular phenotype Supplemental_disease_name DISEASE_NAME:hereditary_cancer_predisposing_syndrome_familial_thoracic_aortic_aneurysm_and_aortic_dissection Hereditary cancer-predisposing syndrome;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:hereditary_cancer_predisposing_syndrome_fanconi_anemia_complementation_group_n Hereditary cancer-predisposing syndrome;Fanconi anemia complementation group N Supplemental_disease_name DISEASE_NAME:hereditary_cancer_predisposing_syndrome_hereditary_leiomyomatosis_and_renal_cell_cancer Hereditary cancer-predisposing syndrome;Hereditary leiomyomatosis and renal cell cancer Supplemental_disease_name DISEASE_NAME:hereditary_cavernous_hemangioma_of_brain Hereditary cavernous hemangioma of brain Supplemental_disease_name DISEASE_NAME:hereditary_cerebellar_ataxia Hereditary cerebellar ataxia Supplemental_disease_name DISEASE_NAME:hereditary_cerebral_amyloid_angiopathy_icelandic_type Hereditary cerebral amyloid angiopathy, Icelandic type Supplemental_disease_name DISEASE_NAME:hereditary_cerebral_amyloid_angiopathy_icelandic_type_age_related_macular_degeneration_11 Hereditary cerebral amyloid angiopathy, Icelandic type;Age related macular degeneration 11 Supplemental_disease_name DISEASE_NAME:hereditary_cryohydrocytosis_with_reduced_stomatin Hereditary cryohydrocytosis with reduced stomatin Supplemental_disease_name DISEASE_NAME:hereditary_cryohydrocytosis_with_reduced_stomatin_dystonia_9_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2_epilepsy_idiopathic_generalized_susceptibility_to_12 Hereditary cryohydrocytosis with reduced stomatin;Dystonia 9;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Epilepsy, idiopathic generalized, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:hereditary_cryohydrocytosis_with_reduced_stomatin_dystonia_9_encephalopathy_due_to_glut1_deficiency_epilepsy_idiopathic_generalized_susceptibility_to_12_childhood_onset_glut1_deficiency_syndrome_2 Hereditary cryohydrocytosis with reduced stomatin;Dystonia 9;Encephalopathy due to GLUT1 deficiency;Epilepsy, idiopathic generalized, susceptibility to, 12;Childhood onset GLUT1 deficiency syndrome 2 Supplemental_disease_name DISEASE_NAME:hereditary_cryohydrocytosis_with_reduced_stomatin_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2_dystonia_9 Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Dystonia 9 Supplemental_disease_name DISEASE_NAME:hereditary_cryohydrocytosis_with_reduced_stomatin_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2_dystonia_9_epilepsy_idiopathic_generalized_susceptibility_to_12 Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Dystonia 9;Epilepsy, idiopathic generalized, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:hereditary_cryohydrocytosis_with_reduced_stomatin_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2_epilepsy_idiopathic_generalized_susceptibility_to_12 Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Epilepsy, idiopathic generalized, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:hereditary_cryohydrocytosis_with_reduced_stomatin_encephalopathy_due_to_glut1_deficiency_epilepsy_idiopathic_generalized_susceptibility_to_12_childhood_onset_glut1_deficiency_syndrome_2_dystonia_9 Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Epilepsy, idiopathic generalized, susceptibility to, 12;Childhood onset GLUT1 deficiency syndrome 2;Dystonia 9 Supplemental_disease_name DISEASE_NAME:hereditary_cryohydrocytosis_with_reduced_stomatin_epilepsy_idiopathic_generalized_susceptibility_to_12_dystonia_9_encephalopathy_due_to_glut1_deficiency_childhood_onset_glut1_deficiency_syndrome_2 Hereditary cryohydrocytosis with reduced stomatin;Epilepsy, idiopathic generalized, susceptibility to, 12;Dystonia 9;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2 Supplemental_disease_name DISEASE_NAME:hereditary_cutaneous_melanoma Hereditary cutaneous melanoma Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma Hereditary diffuse gastric adenocarcinoma Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_blepharocheilodontic_syndrome_1_familial_cancer_of_breast_endometrial_carcinoma_ovarian_cancer Hereditary diffuse gastric adenocarcinoma;Blepharocheilodontic syndrome 1;Familial cancer of breast;Endometrial carcinoma;Ovarian cancer Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_cdh1_related_diffuse_gastric_and_lobular_breast_cancer_syndrome Hereditary diffuse gastric adenocarcinoma;CDH1-related diffuse gastric and lobular breast cancer syndrome Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_endometrial_carcinoma_ovarian_cancer_blepharocheilodontic_syndrome_1_familial_cancer_of_breast Hereditary diffuse gastric adenocarcinoma;Endometrial carcinoma;Ovarian cancer;Blepharocheilodontic syndrome 1;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_endometrial_carcinoma_ovarian_cancer_familial_cancer_of_breast_blepharocheilodontic_syndrome_1 Hereditary diffuse gastric adenocarcinoma;Endometrial carcinoma;Ovarian cancer;Familial cancer of breast;Blepharocheilodontic syndrome 1 Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_familial_cancer_of_breast Hereditary diffuse gastric adenocarcinoma;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_familial_cancer_of_breast_endometrial_carcinoma_ovarian_cancer_blepharocheilodontic_syndrome_1 Hereditary diffuse gastric adenocarcinoma;Familial cancer of breast;Endometrial carcinoma;Ovarian cancer;Blepharocheilodontic syndrome 1 Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_familial_cancer_of_breast_prostate_cancer_blepharocheilodontic_syndrome_1 Hereditary diffuse gastric adenocarcinoma;Familial cancer of breast;Prostate cancer;Blepharocheilodontic syndrome 1 Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_malignant_tumor_of_breast Hereditary diffuse gastric adenocarcinoma;Malignant tumor of breast Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_ovarian_cancer Hereditary diffuse gastric adenocarcinoma;Ovarian cancer Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_gastric_adenocarcinoma_ovarian_cancer_familial_cancer_of_breast_blepharocheilodontic_syndrome_1_endometrial_carcinoma Hereditary diffuse gastric adenocarcinoma;Ovarian cancer;Familial cancer of breast;Blepharocheilodontic syndrome 1;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:hereditary_diffuse_leukoencephalopathy_with_spheroids_brain_abnormalities_neurodegeneration_and_dysosteosclerosis Hereditary diffuse leukoencephalopathy with spheroids;Brain abnormalities, neurodegeneration, and dysosteosclerosis Supplemental_disease_name DISEASE_NAME:hereditary_disease Hereditary disease Supplemental_disease_name DISEASE_NAME:hereditary_disorder_of_connective_tissue Hereditary disorder of connective tissue Supplemental_disease_name DISEASE_NAME:hereditary_episodic_ataxia Hereditary episodic ataxia Supplemental_disease_name DISEASE_NAME:hereditary_episodic_ataxia_delayed_speech_and_language_development_global_developmental_delay Hereditary episodic ataxia;Delayed speech and language development;Global developmental delay Supplemental_disease_name DISEASE_NAME:hereditary_episodic_ataxia_vertigo_seizure Hereditary episodic ataxia;Vertigo;Seizure Supplemental_disease_name DISEASE_NAME:hereditary_factor_i_deficiency_disease Hereditary factor I deficiency disease Supplemental_disease_name DISEASE_NAME:hereditary_factor_ix_deficiency_disease Hereditary factor IX deficiency disease Supplemental_disease_name DISEASE_NAME:hereditary_factor_ix_deficiency_disease_thrombophilia_x_linked_due_to_factor_9_defect Hereditary factor IX deficiency disease;Thrombophilia, X-linked, due to factor 9 defect Supplemental_disease_name DISEASE_NAME:hereditary_factor_ix_deficiency_disease_thrombophilia_x_linked_due_to_factor_9_defect_warfarin_sensitivity_x_linked Hereditary factor IX deficiency disease;Thrombophilia, X-linked, due to factor 9 defect;Warfarin sensitivity, X-linked Supplemental_disease_name DISEASE_NAME:hereditary_factor_ix_deficiency_disease_warfarin_sensitivity_x_linked_thrombophilia_x_linked_due_to_factor_9_defect Hereditary factor IX deficiency disease;Warfarin sensitivity, X-linked;Thrombophilia, X-linked, due to factor 9 defect Supplemental_disease_name DISEASE_NAME:hereditary_factor_viii_deficiency_disease Hereditary factor VIII deficiency disease Supplemental_disease_name DISEASE_NAME:hereditary_factor_viii_deficiency_disease_thrombophilia_x_linked_due_to_factor_8_defect Hereditary factor VIII deficiency disease;Thrombophilia, X-linked, due to factor 8 defect Supplemental_disease_name DISEASE_NAME:hereditary_factor_x_deficiency_disease Hereditary factor X deficiency disease Supplemental_disease_name DISEASE_NAME:hereditary_fructosuria Hereditary fructosuria Supplemental_disease_name DISEASE_NAME:hereditary_glaucoma_primary_closed_angle Hereditary glaucoma, primary closed-angle Supplemental_disease_name DISEASE_NAME:hereditary_glaucoma_primary_closed_angle_knobloch_syndrome_1 Hereditary glaucoma, primary closed-angle;Knobloch syndrome 1 Supplemental_disease_name DISEASE_NAME:hereditary_hemochromatosis Hereditary hemochromatosis Supplemental_disease_name DISEASE_NAME:hereditary_hemochromatosis_type_4 Hereditary hemochromatosis type 4 Supplemental_disease_name DISEASE_NAME:hereditary_hemochromatosis_type_5 Hereditary hemochromatosis type 5 Supplemental_disease_name DISEASE_NAME:hereditary_hemolytic_uremic_syndrome Hereditary hemolytic uremic syndrome Supplemental_disease_name DISEASE_NAME:hereditary_hemorrhagic_telangiectasia_juvenile_polyposis_syndrome Hereditary hemorrhagic telangiectasia;Juvenile polyposis syndrome Supplemental_disease_name DISEASE_NAME:hereditary_hemorrhagic_telangiectasia_telangiectasia_hereditary_hemorrhagic_type_2 Hereditary hemorrhagic telangiectasia;Telangiectasia, hereditary hemorrhagic, type 2 Supplemental_disease_name DISEASE_NAME:hereditary_hypercarotenemia_and_vitamin_a_deficiency Hereditary hypercarotenemia and vitamin A deficiency Supplemental_disease_name DISEASE_NAME:hereditary_hyperferritinemia_with_congenital_cataracts_l_ferritin_deficiency_neuroferritinopathy Hereditary hyperferritinemia with congenital cataracts;L-ferritin deficiency;Neuroferritinopathy Supplemental_disease_name DISEASE_NAME:hereditary_hyperferritinemia_with_congenital_cataracts_neuroferritinopathy Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy Supplemental_disease_name DISEASE_NAME:hereditary_hyperferritinemia_with_congenital_cataracts_neuroferritinopathy_l_ferritin_deficiency Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy;L-ferritin deficiency Supplemental_disease_name DISEASE_NAME:hereditary_hyperinsulinism Hereditary hyperinsulinism Supplemental_disease_name DISEASE_NAME:hereditary_hypotrichosis_with_recurrent_skin_vesicles Hereditary hypotrichosis with recurrent skin vesicles Supplemental_disease_name DISEASE_NAME:hereditary_inclusion_body_myopathy_joint_contractures_ophthalmoplegia_syndrome Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Supplemental_disease_name DISEASE_NAME:hereditary_insensitivity_to_pain_with_anhidrosis Hereditary insensitivity to pain with anhidrosis Supplemental_disease_name DISEASE_NAME:hereditary_insensitivity_to_pain_with_anhidrosis_familial_medullary_thyroid_carcinoma Hereditary insensitivity to pain with anhidrosis;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:hereditary_leiomyomatosis_and_renal_cell_cancer Hereditary leiomyomatosis and renal cell cancer Supplemental_disease_name DISEASE_NAME:hereditary_leiomyomatosis_and_renal_cell_cancer_fumarase_deficiency Hereditary leiomyomatosis and renal cell cancer;Fumarase deficiency Supplemental_disease_name DISEASE_NAME:hereditary_liability_to_pressure_palsies Hereditary liability to pressure palsies Supplemental_disease_name DISEASE_NAME:hereditary_liability_to_pressure_palsies_charcot_marie_tooth_disease_type_1e_charcot_marie_tooth_disease_type_ia Hereditary liability to pressure palsies;Charcot-Marie-Tooth disease type 1E;Charcot-Marie-Tooth disease, type IA Supplemental_disease_name DISEASE_NAME:hereditary_liability_to_pressure_palsies_charcot_marie_tooth_disease_type_ia_charcot_marie_tooth_disease_type_1e Hereditary liability to pressure palsies;Charcot-Marie-Tooth disease, type IA;Charcot-Marie-Tooth disease type 1E Supplemental_disease_name DISEASE_NAME:hereditary_lipodystrophy Hereditary lipodystrophy Supplemental_disease_name DISEASE_NAME:hereditary_lymphedema_type_i_capillary_infantile_hemangioma_congenital_heart_defects_multiple_types_7 Hereditary lymphedema type I;Capillary infantile hemangioma;Congenital heart defects, multiple types, 7 Supplemental_disease_name DISEASE_NAME:hereditary_macular_dystrophy Hereditary macular dystrophy Supplemental_disease_name DISEASE_NAME:hereditary_methemoglobinemia Hereditary methemoglobinemia Supplemental_disease_name DISEASE_NAME:hereditary_motor_and_sensory_neuropathy Hereditary motor and sensory neuropathy Supplemental_disease_name DISEASE_NAME:hereditary_motor_and_sensory_neuropathy_okinawa_type_hereditary_spastic_paraplegia_57 Hereditary motor and sensory neuropathy, Okinawa type;Hereditary spastic paraplegia 57 Supplemental_disease_name DISEASE_NAME:hereditary_motor_and_sensory_neuropathy_with_optic_atrophy Hereditary motor and sensory neuropathy with optic atrophy Supplemental_disease_name DISEASE_NAME:hereditary_motor_and_sensory_neuropathy_with_optic_atrophy_charcot_marie_tooth_disease_type_2a2_charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b Hereditary motor and sensory neuropathy with optic atrophy;Charcot-Marie-Tooth disease type 2A2;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Supplemental_disease_name DISEASE_NAME:hereditary_motor_neuron_disease Hereditary motor neuron disease Supplemental_disease_name DISEASE_NAME:hereditary_mucoepithelial_dysplasia Hereditary mucoepithelial dysplasia Supplemental_disease_name DISEASE_NAME:hereditary_mucoepithelial_dysplasia_ifap_syndrome_2 Hereditary mucoepithelial dysplasia;IFAP syndrome 2 Supplemental_disease_name DISEASE_NAME:hereditary_myopathy_with_lactic_acidosis_due_to_iscu_deficiency Hereditary myopathy with lactic acidosis due to ISCU deficiency Supplemental_disease_name DISEASE_NAME:hereditary_neuralgic_amyotrophy Hereditary neuralgic amyotrophy Supplemental_disease_name DISEASE_NAME:hereditary_neuropathy_or_pain_disorder Hereditary neuropathy or pain disorder Supplemental_disease_name DISEASE_NAME:hereditary_neutrophilia_autosomal_recessive_severe_congenital_neutropenia_due_to_csf3r_deficiency Hereditary neutrophilia;Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Supplemental_disease_name DISEASE_NAME:hereditary_nonpolyposis_colon_cancer_lynch_syndrome Hereditary nonpolyposis colon cancer;Lynch syndrome Supplemental_disease_name DISEASE_NAME:hereditary_nonpolyposis_colorectal_carcinoma Hereditary nonpolyposis colorectal carcinoma Supplemental_disease_name DISEASE_NAME:hereditary_nonpolyposis_colorectal_neoplasms Hereditary nonpolyposis colorectal neoplasms Supplemental_disease_name DISEASE_NAME:hereditary_north_american_indian_childhood_cirrhosis Hereditary North American Indian childhood cirrhosis Supplemental_disease_name DISEASE_NAME:hereditary_optic_neuropathy Hereditary optic neuropathy Supplemental_disease_name DISEASE_NAME:hereditary_orotic_aciduria Hereditary orotic aciduria Supplemental_disease_name DISEASE_NAME:hereditary_orotic_aciduria_type_1 Hereditary orotic aciduria, type 1 Supplemental_disease_name DISEASE_NAME:hereditary_palmoplantar_keratoderma Hereditary palmoplantar keratoderma Supplemental_disease_name DISEASE_NAME:hereditary_palmoplantar_keratoderma_bicuspid_aortic_valve Hereditary palmoplantar keratoderma;Bicuspid aortic valve Supplemental_disease_name DISEASE_NAME:hereditary_palmoplantar_keratoderma_diffuse_palmoplantar_hyperkeratosis Hereditary palmoplantar keratoderma;Diffuse palmoplantar hyperkeratosis Supplemental_disease_name DISEASE_NAME:hereditary_palmoplantar_keratoderma_gamborg_nielsen_type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis_bronchiectasis_with_or_without_elevated_sweat_chloride_1_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_cystic_fibrosis Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis_bronchiectasis_with_or_without_elevated_sweat_chloride_1_cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_bronchiectasis_with_or_without_elevated_sweat_chloride_1_cystic_fibrosis Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis_cystic_fibrosis Hereditary pancreatitis;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis_cystic_fibrosis_bronchiectasis_with_or_without_elevated_sweat_chloride_1_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Hereditary pancreatitis;Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis_cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation Hereditary pancreatitis;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis_cystic_fibrosis_congenital_bilateral_aplasia_of_vas_deferens_from_cftr_mutation_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Hereditary pancreatitis;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis_tropical_pancreatitis Hereditary pancreatitis;Tropical pancreatitis Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis_trypsinogen_deficiency Hereditary pancreatitis;Trypsinogen deficiency Supplemental_disease_name DISEASE_NAME:hereditary_papillary_renal_cell_carcinoma Hereditary papillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:hereditary_paraganglioma Hereditary paraganglioma Supplemental_disease_name DISEASE_NAME:hereditary_peripheral_neuropathy Hereditary peripheral neuropathy Supplemental_disease_name DISEASE_NAME:hereditary_persistence_of_fetal_hemoglobin Hereditary persistence of fetal hemoglobin Supplemental_disease_name DISEASE_NAME:hereditary_persistence_of_fetal_hemoglobin_beta_thalassemia_syndrome Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Supplemental_disease_name DISEASE_NAME:hereditary_pheochromocytoma_and_paraganglioma Hereditary pheochromocytoma and paraganglioma Supplemental_disease_name DISEASE_NAME:hereditary_pheochromocytoma_and_paraganglioma_cowden_syndrome Hereditary pheochromocytoma and paraganglioma;Cowden syndrome Supplemental_disease_name DISEASE_NAME:hereditary_pheochromocytoma_and_paraganglioma_gastrointestinal_stromal_tumor Hereditary pheochromocytoma and paraganglioma;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:hereditary_predisposition_to_infections Hereditary predisposition to infections Supplemental_disease_name DISEASE_NAME:hereditary_pulmonary_alveolar_proteinosis Hereditary pulmonary alveolar proteinosis Supplemental_disease_name DISEASE_NAME:hereditary_renal_cancer Hereditary renal cancer Supplemental_disease_name DISEASE_NAME:hereditary_sclerosing_poikiloderma_with_tendon_and_pulmonary_involvement Hereditary sclerosing poikiloderma with tendon and pulmonary involvement Supplemental_disease_name DISEASE_NAME:hereditary_sensorimotor_neuropathy_with_hyperelastic_skin Hereditary sensorimotor neuropathy with hyperelastic skin Supplemental_disease_name DISEASE_NAME:hereditary_sensory_and_autonomic_neuropathy_type_6_epidermolysis_bullosa_simplex_3_localized_or_generalized_intermediate_with_bp230_deficiency Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency Supplemental_disease_name DISEASE_NAME:hereditary_sensory_and_autonomic_neuropathy_type_7_familial_episodic_pain_syndrome_with_predominantly_lower_limb_involvement Hereditary sensory and autonomic neuropathy type 7;Familial episodic pain syndrome with predominantly lower limb involvement Supplemental_disease_name DISEASE_NAME:hereditary_sensory_and_autonomic_neuropathy_with_spastic_paraplegia Hereditary sensory and autonomic neuropathy with spastic paraplegia Supplemental_disease_name DISEASE_NAME:hereditary_sensory_neuropathy_deafness_dementia_syndrome Hereditary sensory neuropathy-deafness-dementia syndrome Supplemental_disease_name DISEASE_NAME:hereditary_sensory_neuropathy_deafness_dementia_syndrome_autosomal_dominant_cerebellar_ataxia_deafness_and_narcolepsy Hereditary sensory neuropathy-deafness-dementia syndrome;Autosomal dominant cerebellar ataxia, deafness and narcolepsy Supplemental_disease_name DISEASE_NAME:hereditary_site_specific_ovarian_cancer_syndrome Hereditary site-specific ovarian cancer syndrome Supplemental_disease_name DISEASE_NAME:hereditary_skeletal_muscle_disorder Hereditary skeletal muscle disorder Supplemental_disease_name DISEASE_NAME:hereditary_skin_disorder Hereditary skin disorder Supplemental_disease_name DISEASE_NAME:hereditary_sodium_channelopathy_related_small_fibers_neuropathy Hereditary sodium channelopathy-related small fibers neuropathy Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_10_myoclonus_intractable_neonatal_amyotrophic_lateral_sclerosis_susceptibility_to_25_autosomal_dominant_charcot_marie_tooth_disease_type_2_due_to_kif5a_mutation Hereditary spastic paraplegia 10;Myoclonus, intractable, neonatal;Amyotrophic lateral sclerosis, susceptibility to, 25;Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_11_amyotrophic_lateral_sclerosis_type_5 Hereditary spastic paraplegia 11;Amyotrophic lateral sclerosis type 5 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_11_amyotrophic_lateral_sclerosis_type_5_charcot_marie_tooth_disease_axonal_type_2x Hereditary spastic paraplegia 11;Amyotrophic lateral sclerosis type 5;Charcot-Marie-Tooth disease axonal type 2X Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_11_charcot_marie_tooth_disease_axonal_type_2x_amyotrophic_lateral_sclerosis_type_5 Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X;Amyotrophic lateral sclerosis type 5 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_11_charcot_marie_tooth_disease_axonal_type_2x_juvenile_amyotrophic_lateral_sclerosis Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X;Juvenile amyotrophic lateral sclerosis Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_11_juvenile_amyotrophic_lateral_sclerosis_charcot_marie_tooth_disease_axonal_type_2x Hereditary spastic paraplegia 11;Juvenile amyotrophic lateral sclerosis;Charcot-Marie-Tooth disease axonal type 2X Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_17_congenital_generalized_lipodystrophy_type_2_severe_neurodegenerative_syndrome_with_lipodystrophy_neuronopathy_distal_hereditary_motor_type_5c Hereditary spastic paraplegia 17;Congenital generalized lipodystrophy type 2;Severe neurodegenerative syndrome with lipodystrophy;Neuronopathy, distal hereditary motor, type 5C Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_17_neuronopathy_distal_hereditary_motor_type_5c Hereditary spastic paraplegia 17;Neuronopathy, distal hereditary motor, type 5C Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_17_neuronopathy_distal_hereditary_motor_type_5c_congenital_generalized_lipodystrophy_type_2_severe_neurodegenerative_syndrome_with_lipodystrophy Hereditary spastic paraplegia 17;Neuronopathy, distal hereditary motor, type 5C;Congenital generalized lipodystrophy type 2;Severe neurodegenerative syndrome with lipodystrophy Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_17_neuronopathy_distal_hereditary_motor_type_5c_severe_neurodegenerative_syndrome_with_lipodystrophy_congenital_generalized_lipodystrophy_type_2 Hereditary spastic paraplegia 17;Neuronopathy, distal hereditary motor, type 5C;Severe neurodegenerative syndrome with lipodystrophy;Congenital generalized lipodystrophy type 2 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_17_severe_neurodegenerative_syndrome_with_lipodystrophy_congenital_generalized_lipodystrophy_type_2_neuronopathy_distal_hereditary_motor_type_5c Hereditary spastic paraplegia 17;Severe neurodegenerative syndrome with lipodystrophy;Congenital generalized lipodystrophy type 2;Neuronopathy, distal hereditary motor, type 5C Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_2_pelizaeus_merzbacher_disease Hereditary spastic paraplegia 2;Pelizaeus-Merzbacher disease Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_30_intellectual_disability_autosomal_dominant_9 Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_30_intellectual_disability_autosomal_dominant_9_neuropathy_hereditary_sensory_type_2c Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9;Neuropathy, hereditary sensory, type 2C Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_30_neuropathy_hereditary_sensory_and_autonomic_type_2a_neuropathy_hereditary_sensory_type_2c_intellectual_disability_autosomal_dominant_9 Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory and autonomic, type 2A;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_30_neuropathy_hereditary_sensory_type_2c Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_30_neuropathy_hereditary_sensory_type_2c_intellectual_disability_autosomal_dominant_9 Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_30_neuropathy_hereditary_sensory_type_2c_intellectual_disability_autosomal_dominant_9_neuropathy_hereditary_sensory_and_autonomic_type_2a Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Neuropathy, hereditary sensory and autonomic, type 2A Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_31_neuronopathy_distal_hereditary_motor_type_5b Hereditary spastic paraplegia 31;Neuronopathy, distal hereditary motor, type 5B Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_31_neuronopathy_distal_hereditary_motor_type_5b_spinal_muscular_atrophy_distal_autosomal_recessive_6 Hereditary spastic paraplegia 31;Neuronopathy, distal hereditary motor, type 5B;Spinal muscular atrophy, distal, autosomal recessive, 6 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_39_ataxia_hypogonadism_choroidal_dystrophy_syndrome_laurence_moon_syndrome Hereditary spastic paraplegia 39;Ataxia-hypogonadism-choroidal dystrophy syndrome;Laurence-Moon syndrome Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_39_ataxia_hypogonadism_choroidal_dystrophy_syndrome_laurence_moon_syndrome_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome Hereditary spastic paraplegia 39;Ataxia-hypogonadism-choroidal dystrophy syndrome;Laurence-Moon syndrome;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_39_ataxia_hypogonadism_choroidal_dystrophy_syndrome_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome_laurence_moon_syndrome Hereditary spastic paraplegia 39;Ataxia-hypogonadism-choroidal dystrophy syndrome;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome;Laurence-Moon syndrome Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_39_laurence_moon_syndrome_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome Hereditary spastic paraplegia 39;Laurence-Moon syndrome;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_3a_neuropathy_hereditary_sensory_type_1d Hereditary spastic paraplegia 3A;Neuropathy, hereditary sensory, type 1D Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_42_huppke_brendel_syndrome Hereditary spastic paraplegia 42;Huppke-Brendel syndrome Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_43_neurodegeneration_with_brain_iron_accumulation_4 Hereditary spastic paraplegia 43;Neurodegeneration with brain iron accumulation 4 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_44_hypomyelinating_leukodystrophy_2 Hereditary spastic paraplegia 44;Hypomyelinating leukodystrophy 2 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_44_hypomyelinating_leukodystrophy_2_lymphatic_malformation_3 Hereditary spastic paraplegia 44;Hypomyelinating leukodystrophy 2;Lymphatic malformation 3 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_49 Hereditary spastic paraplegia 49 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_51_stuttering_familial_persistent_1 Hereditary spastic paraplegia 51;Stuttering, familial persistent, 1 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_55_combined_oxidative_phosphorylation_defect_type_7 Hereditary spastic paraplegia 55;Combined oxidative phosphorylation defect type 7 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_57_hereditary_motor_and_sensory_neuropathy_okinawa_type Hereditary spastic paraplegia 57;Hereditary motor and sensory neuropathy, Okinawa type Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_5a_congenital_bile_acid_synthesis_defect_3 Hereditary spastic paraplegia 5A;Congenital bile acid synthesis defect 3 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_63_pontocerebellar_hypoplasia_type_9 Hereditary spastic paraplegia 63;Pontocerebellar hypoplasia type 9 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_72 Hereditary spastic paraplegia 72 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_72_spastic_paraplegia_72b_autosomal_recessive Hereditary spastic paraplegia 72;Spastic paraplegia 72b, autosomal recessive Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_74_multiple_mitochondrial_dysfunctions_syndrome_3 Hereditary spastic paraplegia 74;Multiple mitochondrial dysfunctions syndrome 3 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_77_combined_oxidative_phosphorylation_defect_type_14 Hereditary spastic paraplegia 77;Combined oxidative phosphorylation defect type 14 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_8_ritscher_schinzel_syndrome Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_8_ritscher_schinzel_syndrome_1 Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome 1 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_9a_aldh18a1_related_de_barsy_syndrome_autosomal_recessive_complex_spastic_paraplegia_type_9b_cutis_laxa_autosomal_dominant_3 Hereditary spastic paraplegia 9A;ALDH18A1-related de Barsy syndrome;Autosomal recessive complex spastic paraplegia type 9B;Cutis laxa, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_9a_autosomal_recessive_complex_spastic_paraplegia_type_9b_cutis_laxa_autosomal_dominant_3_aldh18a1_related_de_barsy_syndrome Hereditary spastic paraplegia 9A;Autosomal recessive complex spastic paraplegia type 9B;Cutis laxa, autosomal dominant 3;ALDH18A1-related de Barsy syndrome Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_9a_cutis_laxa_autosomal_dominant_3_aldh18a1_related_de_barsy_syndrome_autosomal_recessive_complex_spastic_paraplegia_type_9b Hereditary spastic paraplegia 9A;Cutis laxa, autosomal dominant 3;ALDH18A1-related de Barsy syndrome;Autosomal recessive complex spastic paraplegia type 9B Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_9a_cutis_laxa_autosomal_dominant_3_autosomal_recessive_complex_spastic_paraplegia_type_9b_aldh18a1_related_de_barsy_syndrome Hereditary spastic paraplegia 9A;Cutis laxa, autosomal dominant 3;Autosomal recessive complex spastic paraplegia type 9B;ALDH18A1-related de Barsy syndrome Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_hsp Hereditary Spastic Paraplegia (HSP) Supplemental_disease_name DISEASE_NAME:hereditary_spherocytosis_type_2_elliptocytosis_3 Hereditary spherocytosis type 2;Elliptocytosis 3 Supplemental_disease_name DISEASE_NAME:hereditary_spherocytosis_type_3_elliptocytosis_2_pyropoikilocytosis_hereditary Hereditary spherocytosis type 3;Elliptocytosis 2;Pyropoikilocytosis, hereditary Supplemental_disease_name DISEASE_NAME:hereditary_spherocytosis_type_3_pyropoikilocytosis_hereditary Hereditary spherocytosis type 3;Pyropoikilocytosis, hereditary Supplemental_disease_name DISEASE_NAME:hereditary_spherocytosis_type_3_pyropoikilocytosis_hereditary_elliptocytosis_2 Hereditary spherocytosis type 3;Pyropoikilocytosis, hereditary;Elliptocytosis 2 Supplemental_disease_name DISEASE_NAME:hereditary_spherocytosis_type_4_autosomal_dominant_distal_renal_tubular_acidosis Hereditary spherocytosis type 4;Autosomal dominant distal renal tubular acidosis Supplemental_disease_name DISEASE_NAME:hereditary_spherocytosis_type_4_autosomal_dominant_distal_renal_tubular_acidosis_cryohydrocytosis_renal_tubular_acidosis_distal_4_with_hemolytic_anemia_southeast_asian_ovalocytosis Hereditary spherocytosis type 4;Autosomal dominant distal renal tubular acidosis;Cryohydrocytosis;Renal tubular acidosis, distal, 4, with hemolytic anemia;Southeast Asian ovalocytosis Supplemental_disease_name DISEASE_NAME:hereditary_spherocytosis_type_4_autosomal_dominant_distal_renal_tubular_acidosis_southeast_asian_ovalocytosis_renal_tubular_acidosis_distal_4_with_hemolytic_anemia_cryohydrocytosis Hereditary spherocytosis type 4;Autosomal dominant distal renal tubular acidosis;Southeast Asian ovalocytosis;Renal tubular acidosis, distal, 4, with hemolytic anemia;Cryohydrocytosis Supplemental_disease_name DISEASE_NAME:hereditary_syndromic_pierre_robin_syndrome Hereditary syndromic Pierre Robin syndrome Supplemental_disease_name DISEASE_NAME:hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Supplemental_disease_name DISEASE_NAME:hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_runx1 Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Supplemental_disease_name DISEASE_NAME:hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_runx1_acute_myeloid_leukemia Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:hereditary_thrombophilia Hereditary thrombophilia Supplemental_disease_name DISEASE_NAME:hereditary_thrombophilia_due_to_congenital_protein_c_deficiency Hereditary thrombophilia due to congenital protein C deficiency Supplemental_disease_name DISEASE_NAME:hereditary_thrombophilia_due_to_congenital_protein_s_deficiency Hereditary thrombophilia due to congenital protein S deficiency Supplemental_disease_name DISEASE_NAME:hereditary_von_willebrand_disease Hereditary von Willebrand disease Supplemental_disease_name DISEASE_NAME:hereditary_xanthinuria_type_1 Hereditary xanthinuria type 1 Supplemental_disease_name DISEASE_NAME:heritable_pulmonary_arterial_hypertension Heritable pulmonary arterial hypertension Supplemental_disease_name DISEASE_NAME:heritable_thoracic_aortic_disease Heritable Thoracic Aortic Disease Supplemental_disease_name DISEASE_NAME:heritable_thoracic_aortic_disease_without_juvenile_polyposis_and_hereditary_hemorrhagic_telangiectasia Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia Supplemental_disease_name DISEASE_NAME:hermansky_pudlak_syndrome_with_pulmonary_fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis Supplemental_disease_name DISEASE_NAME:hernia_anterior_diaphragmatic Hernia, anterior diaphragmatic Supplemental_disease_name DISEASE_NAME:herpes_simplex_encephalitis Herpes simplex encephalitis Supplemental_disease_name DISEASE_NAME:herpes_simplex_encephalitis_susceptibility_to_1 Herpes simplex encephalitis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:herpes_simplex_encephalitis_susceptibility_to_3 Herpes simplex encephalitis, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:herpes_simplex_encephalitis_susceptibility_to_4 Herpes simplex encephalitis, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:hes7_related_disorder HES7-related disorder Supplemental_disease_name DISEASE_NAME:hesx1_related_disorder HESX1-related disorder Supplemental_disease_name DISEASE_NAME:hesx1_related_disorders HESX1-Related Disorders Supplemental_disease_name DISEASE_NAME:heterogeneous_nuclear_ribonucleoprotein_g Heterogeneous nuclear ribonucleoprotein G Supplemental_disease_name DISEASE_NAME:heterogeneous_nuclear_ribonucleoprotein_g_human heterogeneous nuclear ribonucleoprotein G, human Supplemental_disease_name DISEASE_NAME:heterotaxy Heterotaxy Supplemental_disease_name DISEASE_NAME:heterotaxy_tga HETEROTAXY, TGA Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_10_autosomal_with_male_infertility Heterotaxy, visceral, 10, autosomal, with male infertility Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_11_autosomal_with_male_infertility Heterotaxy, visceral, 11, autosomal, with male infertility Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_12_autosomal Heterotaxy, visceral, 12, autosomal Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_13_autosomal Heterotaxy, visceral, 13, autosomal Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_14_autosomal Heterotaxy, visceral, 14, autosomal Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_1_x_linked Heterotaxy, visceral, 1, X-linked Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_1_x_linked_vacterl_association_x_linked_with_or_without_hydrocephalus Heterotaxy, visceral, 1, X-linked;VACTERL association, X-linked, with or without hydrocephalus Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_2_autosomal Heterotaxy, visceral, 2, autosomal Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_4_autosomal Heterotaxy, visceral, 4, autosomal Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_5_autosomal Heterotaxy, visceral, 5, autosomal Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_6_autosomal Heterotaxy, visceral, 6, autosomal Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_7_autosomal Heterotaxy, visceral, 7, autosomal Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_8_autosomal Heterotaxy, visceral, 8, autosomal Supplemental_disease_name DISEASE_NAME:heterotaxy_visceral_9_autosomal_with_male_infertility Heterotaxy, visceral, 9, autosomal, with male infertility Supplemental_disease_name DISEASE_NAME:heterotopia Heterotopia Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_nodular_x_linked_dominant_with_melnick_needles_syndrome HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_nodular_x_linked_with_frontometaphyseal_dysplasia HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_x_linked_dominant Heterotopia, periventricular, X-linked dominant Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_x_linked_dominant_frontometaphyseal_dysplasia_melnick_needles_syndrome_oto_palato_digital_syndrome_type_ii Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_x_linked_dominant_melnick_needles_syndrome_frontometaphyseal_dysplasia_oto_palato_digital_syndrome_type_ii Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_x_linked_dominant_melnick_needles_syndrome_oto_palato_digital_syndrome_type_ii_frontometaphyseal_dysplasia Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_x_linked_dominant_melnick_needles_syndrome_oto_palato_digital_syndrome_type_ii_frontometaphyseal_dysplasia_1 Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia 1 Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_ii_frontometaphyseal_dysplasia_1_melnick_needles_syndrome Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia 1;Melnick-Needles syndrome Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_ii_frontometaphyseal_dysplasia_melnick_needles_syndrome Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;Melnick-Needles syndrome Supplemental_disease_name DISEASE_NAME:heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_ii_melnick_needles_syndrome_frontometaphyseal_dysplasia Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome;Frontometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:hexa_related_disorder HEXA-related disorder Supplemental_disease_name DISEASE_NAME:hexb_polymorphism HEXB POLYMORPHISM Supplemental_disease_name DISEASE_NAME:hexb_related_disorder HEXB-related disorder Supplemental_disease_name DISEASE_NAME:hexosaminidase_b_heat_labile_polymorphism HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM Supplemental_disease_name DISEASE_NAME:hexosaminidase_b_paris Hexosaminidase B (Paris) Supplemental_disease_name DISEASE_NAME:hey1_related_disorder HEY1-related disorder Supplemental_disease_name DISEASE_NAME:heyn_sproul_jackson_syndrome Heyn-Sproul-Jackson syndrome Supplemental_disease_name DISEASE_NAME:heyn_sproul_jackson_syndrome_acute_myeloid_leukemia_tatton_brown_rahman_overgrowth_syndrome Heyn-Sproul-Jackson syndrome;Acute myeloid leukemia;Tatton-Brown-Rahman overgrowth syndrome Supplemental_disease_name DISEASE_NAME:hfe_intronic_polymorphism HFE INTRONIC POLYMORPHISM Supplemental_disease_name DISEASE_NAME:hfe_polymorphism HFE POLYMORPHISM Supplemental_disease_name DISEASE_NAME:hfe_related_disorder HFE-related disorder Supplemental_disease_name DISEASE_NAME:hfm1_related_disorder HFM1-related disorder Supplemental_disease_name DISEASE_NAME:hgd_related_disorder HGD-related disorder Supplemental_disease_name DISEASE_NAME:hgf_related_disorder HGF-related disorder Supplemental_disease_name DISEASE_NAME:hgsnat_related_disorder HGSNAT-related disorder Supplemental_disease_name DISEASE_NAME:hhat_related_disorder HHAT-related disorder Supplemental_disease_name DISEASE_NAME:hhatl_related_disorder HHATL-related disorder Supplemental_disease_name DISEASE_NAME:hhip_related_condition HHIP-related condition Supplemental_disease_name DISEASE_NAME:hhypotonia_ataxia_and_delayed_development_syndrome Hhypotonia, ataxia, and delayed development syndrome Supplemental_disease_name DISEASE_NAME:hiatt_neu_cooper_neurodevelopmental_syndrome Hiatt-Neu-Cooper neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:hibadh_related_disorder HIBADH-related disorder Supplemental_disease_name DISEASE_NAME:hibch_related_disorder HIBCH-related disorder Supplemental_disease_name DISEASE_NAME:hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_dominant_nonsyndromic_hearing_loss_3b_autosomal_recessive_nonsyndromic_hearing_loss_1b Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1A;Autosomal dominant nonsyndromic hearing loss 3B;Autosomal recessive nonsyndromic hearing loss 1B Supplemental_disease_name DISEASE_NAME:hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1a_autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1A;Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B Supplemental_disease_name DISEASE_NAME:hidrotic_ectodermal_dysplasia_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_1b_autosomal_dominant_nonsyndromic_hearing_loss_3b_autosomal_recessive_nonsyndromic_hearing_loss_1a Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B;Autosomal recessive nonsyndromic hearing loss 1A Supplemental_disease_name DISEASE_NAME:high_bone_mass High bone mass Supplemental_disease_name DISEASE_NAME:high_density_lipoprotein_cholesterol_level_quantitative_trait_locus_10 High density lipoprotein cholesterol level quantitative trait locus 10 Supplemental_disease_name DISEASE_NAME:high_density_lipoprotein_cholesterol_level_quantitative_trait_locus_11 High density lipoprotein cholesterol level quantitative trait locus 11 Supplemental_disease_name DISEASE_NAME:high_density_lipoprotein_cholesterol_level_quantitative_trait_locus_12 High density lipoprotein cholesterol level quantitative trait locus 12 Supplemental_disease_name DISEASE_NAME:high_density_lipoprotein_cholesterol_level_quantitative_trait_locus_6 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 Supplemental_disease_name DISEASE_NAME:high_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7 High density lipoprotein cholesterol level quantitative trait locus 7 Supplemental_disease_name DISEASE_NAME:high_density_lipoprotein_deficiency_detroit_type High density lipoprotein deficiency, Detroit type Supplemental_disease_name DISEASE_NAME:high_grade_astrocytic_tumor High grade astrocytic tumor Supplemental_disease_name DISEASE_NAME:high_grade_malignant_neoplasm High grade malignant neoplasm Supplemental_disease_name DISEASE_NAME:high_grade_serous_ovarian_cancer High-grade serous ovarian cancer Supplemental_disease_name DISEASE_NAME:high_grade_serous_ovarian_carcinoma High-grade serous ovarian carcinoma Supplemental_disease_name DISEASE_NAME:high_grade_surface_osteosarcoma High grade surface osteosarcoma Supplemental_disease_name DISEASE_NAME:high_myopia High myopia Supplemental_disease_name DISEASE_NAME:high_myopia_autosomal_dominant_neovascular_inflammatory_vitreoretinopathy High myopia;Autosomal dominant neovascular inflammatory vitreoretinopathy Supplemental_disease_name DISEASE_NAME:high_myopia_early_onset High myopia, early-onset Supplemental_disease_name DISEASE_NAME:high_myopia_nystagmus_short_lingual_frenulum_persistent_hyperplastic_primary_vitreous High myopia;Nystagmus;Short lingual frenulum;Persistent hyperplastic primary vitreous Supplemental_disease_name DISEASE_NAME:high_palate High palate Supplemental_disease_name DISEASE_NAME:high_palate_lens_subluxation_aortic_dissection_arachnodactyly High palate;Lens subluxation;Aortic dissection;Arachnodactyly Supplemental_disease_name DISEASE_NAME:highly_elevated_creatine_kinase Highly elevated creatine kinase Supplemental_disease_name DISEASE_NAME:hikeshi_related_disorder HIKESHI-related disorder Supplemental_disease_name DISEASE_NAME:hint1_related_disorder HINT1-related disorder Supplemental_disease_name DISEASE_NAME:hip1_related_disorder HIP1-related disorder Supplemental_disease_name DISEASE_NAME:hip_dysplasia_beukes_type Hip dysplasia, Beukes type Supplemental_disease_name DISEASE_NAME:hip_flexor_weakness_muscle_weakness_congenital_hip_dislocation_difficulty_walking_falls Hip flexor weakness;Muscle weakness;Congenital hip dislocation;Difficulty walking;Falls Supplemental_disease_name DISEASE_NAME:hira_related_disorder HIRA-related disorder Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_cardiac_defects_and_autonomic_dysfunction Hirschsprung disease, cardiac defects, and autonomic dysfunction Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_ganglioneuroblastoma_syndrome Hirschsprung disease-ganglioneuroblastoma syndrome Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_intellectual_disability_syndrome_late_infantile Hirschsprung disease-intellectual disability syndrome, late infantile Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_protection_against Hirschsprung disease, protection against Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1 Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma_pheochromocytoma_multiple_endocrine_neoplasia_type_2b Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_pheochromocytoma Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_pheochromocytoma_familial_medullary_thyroid_carcinoma Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Pheochromocytoma;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_pheochromocytoma Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_pheochromocytoma_multiple_endocrine_neoplasia_type_2a Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma_pheochromocytoma Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a_pheochromocytoma_familial_medullary_thyroid_carcinoma Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A;Pheochromocytoma;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_pheochromocytoma_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Pheochromocytoma;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_pheochromocytoma_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_pheochromocytoma_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_pheochromocytoma_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2b Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_pheochromocytoma_multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_pheochromocytoma_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_1_pheochromocytoma_multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_2 Hirschsprung disease, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_2_abcd_syndrome_waardenburg_syndrome_type_4a Hirschsprung disease, susceptibility to, 2;ABCD syndrome;Waardenburg syndrome type 4A Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_3 Hirschsprung disease, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_4 Hirschsprung disease, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:hirschsprung_disease_susceptibility_to_4_waardenburg_syndrome_type_4b Hirschsprung disease, susceptibility to, 4;Waardenburg syndrome type 4B Supplemental_disease_name DISEASE_NAME:hist1h1e_related_neurodevelopmental_disorder_with_multiple_anomalies HIST1H1E-related neurodevelopmental disorder with multiple anomalies Supplemental_disease_name DISEASE_NAME:hist1h4c_associated_disorder HIST1H4C-associated disorder Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_atypical_severe_combined_immunodeficiency_due_to_complete_rag1_2_deficiency_recombinase_activating_gene_2_deficiency_inborn_error_of_immunity Histiocytic medullary reticulosis;Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency;Recombinase activating gene 2 deficiency;Inborn error of immunity Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_combined_immunodeficiency_due_to_partial_rag1_deficiency_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_with_skin_granulomas Histiocytic medullary reticulosis;Combined immunodeficiency due to partial RAG1 deficiency;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency with skin granulomas Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_combined_immunodeficiency_with_skin_granulomas_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive Histiocytic medullary reticulosis;Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_combined_immunodeficiency_with_skin_granulomas_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_due_to_partial_rag1_deficiency Histiocytic medullary reticulosis;Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency due to partial RAG1 deficiency Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_inborn_error_of_immunity_combined_immunodeficiency_with_skin_granulomas_atypical_severe_combined_immunodeficiency_due_to_complete_rag1_2_deficiency_recombinase_activating_gene_2_deficiency Histiocytic medullary reticulosis;Inborn error of immunity;Combined immunodeficiency with skin granulomas;Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency;Recombinase activating gene 2 deficiency Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_inborn_error_of_immunity_recombinase_activating_gene_2_deficiency Histiocytic medullary reticulosis;Inborn error of immunity;Recombinase activating gene 2 deficiency Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_inborn_error_of_immunity_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_recombinase_activating_gene_2_deficiency Histiocytic medullary reticulosis;Inborn error of immunity;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Recombinase activating gene 2 deficiency Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_recombinase_activating_gene_2_deficiency_inborn_error_of_immunity Histiocytic medullary reticulosis;Recombinase activating gene 2 deficiency;Inborn error of immunity Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_due_to_partial_rag1_deficiency_combined_immunodeficiency_with_skin_granulomas Histiocytic medullary reticulosis;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency due to partial RAG1 deficiency;Combined immunodeficiency with skin granulomas Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_with_skin_granulomas Histiocytic medullary reticulosis;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency with skin granulomas Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_with_skin_granulomas_combined_immunodeficiency_due_to_partial_rag1_deficiency Histiocytic medullary reticulosis;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency with skin granulomas;Combined immunodeficiency due to partial RAG1 deficiency Supplemental_disease_name DISEASE_NAME:histiocytic_medullary_reticulosis_severe_combined_immunodeficiency_due_to_dclre1c_deficiency Histiocytic medullary reticulosis;Severe combined immunodeficiency due to DCLRE1C deficiency Supplemental_disease_name DISEASE_NAME:histiocytoid_cardiomyopathy Histiocytoid cardiomyopathy Supplemental_disease_name DISEASE_NAME:histone_methylation_therapy_response Histone Methylation Therapy response Supplemental_disease_name DISEASE_NAME:history_of_neurodevelopmental_disorder History of neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:hiv_1_viremia_susceptibility_to HIV-1 VIREMIA, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:hiv_encephalitis HIV encephalitis Supplemental_disease_name DISEASE_NAME:hivep1_related_disorder HIVEP1-related disorder Supplemental_disease_name DISEASE_NAME:hivep2_related_disorder HIVEP2-related disorder Supplemental_disease_name DISEASE_NAME:hivep2_related_syndromic_intellectual_disability HIVEP2-related syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:hivep3_related_disorder HIVEP3-related disorder Supplemental_disease_name DISEASE_NAME:hjv_related_disorder HJV-related disorder Supplemental_disease_name DISEASE_NAME:hk1_related_disorder HK1-related disorder Supplemental_disease_name DISEASE_NAME:hk2_related_disorder HK2-related disorder Supplemental_disease_name DISEASE_NAME:hla_a_related_condition HLA-A-related condition Supplemental_disease_name DISEASE_NAME:hla_b_related_disorder HLA-B-related disorder Supplemental_disease_name DISEASE_NAME:hla_drb1_related_disorder HLA-DRB1-related disorder Supplemental_disease_name DISEASE_NAME:hlcs_related_disorder HLCS-related disorder Supplemental_disease_name DISEASE_NAME:hltf_related_disorder HLTF-related disorder Supplemental_disease_name DISEASE_NAME:hlx_related_disorder HLX-related disorder Supplemental_disease_name DISEASE_NAME:hmbs_related_disorder HMBS-related disorder Supplemental_disease_name DISEASE_NAME:hmcn1_related_disorder HMCN1-related disorder Supplemental_disease_name DISEASE_NAME:hmg20a_related_disorder HMG20A-related disorder Supplemental_disease_name DISEASE_NAME:hmg_coa_reductase_inhibitors_response_toxicity hmg coa reductase inhibitors response - Toxicity Supplemental_disease_name DISEASE_NAME:hmga2_related_disorder HMGA2-related disorder Supplemental_disease_name DISEASE_NAME:hmgb1_associated_disorder HMGB1-associated disorder Supplemental_disease_name DISEASE_NAME:hmgb1_related_developmental_delay_and_microcephaly HMGB1-related Developmental delay and microcephaly Supplemental_disease_name DISEASE_NAME:hmgb1_related_disorder HMGB1-related disorder Supplemental_disease_name DISEASE_NAME:hmgb3_related_disorder HMGB3-related disorder Supplemental_disease_name DISEASE_NAME:hmgcl_related_disorder HMGCL-related disorder Supplemental_disease_name DISEASE_NAME:hmgcr_related_disorder HMGCR-related disorder Supplemental_disease_name DISEASE_NAME:hmgcs2_related_disorder HMGCS2-related disorder Supplemental_disease_name DISEASE_NAME:hmox1_related_disorder HMOX1-related disorder Supplemental_disease_name DISEASE_NAME:hmx1_related_disorder HMX1-related disorder Supplemental_disease_name DISEASE_NAME:hmx2_related_disorder HMX2-related disorder Supplemental_disease_name DISEASE_NAME:hnf1a_related_disorder HNF1A-related disorder Supplemental_disease_name DISEASE_NAME:hnf1a_related_disorders HNF1A-related disorders Supplemental_disease_name DISEASE_NAME:hnf1b_related_disorder HNF1B-related disorder Supplemental_disease_name DISEASE_NAME:hnf1b_related_renal_cysts_and_diabetes_syndrome HNF1B-related renal cysts and diabetes syndrome Supplemental_disease_name DISEASE_NAME:hnf4a_related_disorder HNF4A-related disorder Supplemental_disease_name DISEASE_NAME:hnmt_related_disorder HNMT-related disorder Supplemental_disease_name DISEASE_NAME:hnmt_related_disorders HNMT-Related Disorders Supplemental_disease_name DISEASE_NAME:hnrnpa1_related_disorder HNRNPA1-related disorder Supplemental_disease_name DISEASE_NAME:hnrnpa1_related_multisystem_proteinopathy HNRNPA1-related multisystem proteinopathy Supplemental_disease_name DISEASE_NAME:hnrnpa2b1_related_disorder HNRNPA2B1-related disorder Supplemental_disease_name DISEASE_NAME:hnrnpc_related_condition HNRNPC-related condition Supplemental_disease_name DISEASE_NAME:hnrnpd_related_disorder HNRNPD-related disorder Supplemental_disease_name DISEASE_NAME:hnrnpd_related_neurodevelopmental_disorder HNRNPD-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:hnrnpdl_related_disorder HNRNPDL-related disorder Supplemental_disease_name DISEASE_NAME:hnrnpdl_related_myopathy_with_protein_aggregates_and_rimmed_vacuoles HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles Supplemental_disease_name DISEASE_NAME:hnrnph1_related_disorder HNRNPH1-related disorder Supplemental_disease_name DISEASE_NAME:hnrnph2_related_disorder HNRNPH2-related disorder Supplemental_disease_name DISEASE_NAME:hnrnpk_related_disorder HNRNPK-related disorder Supplemental_disease_name DISEASE_NAME:hnrnpr_related_disorder HNRNPR-related disorder Supplemental_disease_name DISEASE_NAME:hnrnpu_related_developmental_and_epileptic_encephalopathy HNRNPU-related developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:hnrnpu_related_disorder HNRNPU-related disorder Supplemental_disease_name DISEASE_NAME:hnrnpul2_related_disorder HNRNPUL2-related disorder Supplemental_disease_name DISEASE_NAME:hnsha_due_to_aldolase_a_deficiency HNSHA due to aldolase A deficiency Supplemental_disease_name DISEASE_NAME:hodgkin_lymphoma_susceptibility_to Hodgkin lymphoma, susceptibility to Supplemental_disease_name DISEASE_NAME:hoga1_related_disorder HOGA1-related disorder Supplemental_disease_name DISEASE_NAME:holoprosencephaly_10 Holoprosencephaly 10 Supplemental_disease_name DISEASE_NAME:holoprosencephaly_12_with_or_without_pancreatic_agenesis_vissers_bodmer_syndrome Holoprosencephaly 12 with or without pancreatic agenesis;Vissers-Bodmer syndrome Supplemental_disease_name DISEASE_NAME:holoprosencephaly_13_x_linked_mullegama_klein_martinez_syndrome Holoprosencephaly 13, X-linked;Mullegama-Klein-Martinez syndrome Supplemental_disease_name DISEASE_NAME:holoprosencephaly_14 Holoprosencephaly 14 Supplemental_disease_name DISEASE_NAME:holoprosencephaly_2_schizencephaly Holoprosencephaly 2;Schizencephaly Supplemental_disease_name DISEASE_NAME:holoprosencephaly_3_microphthalmia_isolated_with_coloboma_5_schizencephaly_solitary_median_maxillary_central_incisor_syndrome Holoprosencephaly 3;Microphthalmia, isolated, with coloboma 5;Schizencephaly;Solitary median maxillary central incisor syndrome Supplemental_disease_name DISEASE_NAME:holoprosencephaly_3_microphthalmia_isolated_with_coloboma_5_solitary_median_maxillary_central_incisor_syndrome Holoprosencephaly 3;Microphthalmia, isolated, with coloboma 5;Solitary median maxillary central incisor syndrome Supplemental_disease_name DISEASE_NAME:holoprosencephaly_3_microphthalmia_isolated_with_coloboma_5_solitary_median_maxillary_central_incisor_syndrome_schizencephaly Holoprosencephaly 3;Microphthalmia, isolated, with coloboma 5;Solitary median maxillary central incisor syndrome;Schizencephaly Supplemental_disease_name DISEASE_NAME:holoprosencephaly_3_solitary_median_maxillary_central_incisor_syndrome_microphthalmia_isolated_with_coloboma_5_schizencephaly Holoprosencephaly 3;Solitary median maxillary central incisor syndrome;Microphthalmia, isolated, with coloboma 5;Schizencephaly Supplemental_disease_name DISEASE_NAME:holoprosencephaly_7_basal_cell_carcinoma_susceptibility_to_1_basal_cell_nevus_syndrome_1 Holoprosencephaly 7;Basal cell carcinoma, susceptibility to, 1;Basal cell nevus syndrome 1 Supplemental_disease_name DISEASE_NAME:holoprosencephaly_7_basal_cell_carcinoma_susceptibility_to_1_gorlin_syndrome Holoprosencephaly 7;Basal cell carcinoma, susceptibility to, 1;Gorlin syndrome Supplemental_disease_name DISEASE_NAME:holoprosencephaly_7_basal_cell_nevus_syndrome_1_basal_cell_carcinoma_susceptibility_to_1 Holoprosencephaly 7;Basal cell nevus syndrome 1;Basal cell carcinoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:holoprosencephaly_7_gorlin_syndrome Holoprosencephaly 7;Gorlin syndrome Supplemental_disease_name DISEASE_NAME:holoprosencephaly_7_gorlin_syndrome_basal_cell_carcinoma_susceptibility_to_1 Holoprosencephaly 7;Gorlin syndrome;Basal cell carcinoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:holoprosencephaly_9_postaxial_polydactyly_anterior_pituitary_anomalies_facial_dysmorphism_syndrome Holoprosencephaly 9;Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:holoprosencephaly_hypokinesia_congenital_contractures_syndrome Holoprosencephaly-hypokinesia-congenital contractures syndrome Supplemental_disease_name DISEASE_NAME:holoprosencephaly_sequence_microcephaly Holoprosencephaly sequence;Microcephaly Supplemental_disease_name DISEASE_NAME:holoprosencephaly_spectrum_disorder Holoprosencephaly spectrum disorder Supplemental_disease_name DISEASE_NAME:homer2_related_disorder HOMER2-related disorder Supplemental_disease_name DISEASE_NAME:homocysteine_level_elevated Homocysteine level elevated Supplemental_disease_name DISEASE_NAME:homocystinuria_decreased_methionine_synthase_activity Homocystinuria;Decreased methionine synthase activity Supplemental_disease_name DISEASE_NAME:homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Supplemental_disease_name DISEASE_NAME:homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_neural_tube_defects_folate_sensitive_schizophrenia_thrombophilia_due_to_thrombin_defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Neural tube defects, folate-sensitive;Schizophrenia;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_neural_tube_defects_folate_sensitive_thrombophilia_due_to_thrombin_defect_schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Neural tube defects, folate-sensitive;Thrombophilia due to thrombin defect;Schizophrenia Supplemental_disease_name DISEASE_NAME:homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_schizophrenia_neural_tube_defects_folate_sensitive_thrombophilia_due_to_thrombin_defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Schizophrenia;Neural tube defects, folate-sensitive;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_thrombophilia_due_to_thrombin_defect_neural_tube_defects_folate_sensitive_schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Thrombophilia due to thrombin defect;Neural tube defects, folate-sensitive;Schizophrenia Supplemental_disease_name DISEASE_NAME:homocystinuria_megaloblastic_anemia Homocystinuria-megaloblastic anemia Supplemental_disease_name DISEASE_NAME:homocystinuria_megaloblastic_anemia_cbld_type Homocystinuria-megaloblastic anemia cblD type Supplemental_disease_name DISEASE_NAME:homocystinuria_methylmalonic_aciduria Homocystinuria;Methylmalonic aciduria Supplemental_disease_name DISEASE_NAME:homocystinuria_pyridoxine_nonresponsive Homocystinuria, pyridoxine-nonresponsive Supplemental_disease_name DISEASE_NAME:homocystinuria_pyridoxine_responsive Homocystinuria, pyridoxine-responsive Supplemental_disease_name DISEASE_NAME:homocystinuria_without_methylmalonic_aciduria Homocystinuria without methylmalonic aciduria Supplemental_disease_name DISEASE_NAME:homozygous_familial_hypercholesterolemia Homozygous familial hypercholesterolemia Supplemental_disease_name DISEASE_NAME:hormonal_contraceptives_for_systemic_use_response_toxicity hormonal contraceptives for systemic use response - Toxicity Supplemental_disease_name DISEASE_NAME:houge_janssens_syndrome Houge-Janssens syndrome Supplemental_disease_name DISEASE_NAME:houge_janssens_syndrome_1 Houge-Janssens syndrome 1 Supplemental_disease_name DISEASE_NAME:houge_janssens_syndrome_2 Houge-Janssens syndrome 2 Supplemental_disease_name DISEASE_NAME:houge_janssens_syndrome_3 Houge-Janssens syndrome 3 Supplemental_disease_name DISEASE_NAME:houge_janssens_syndrome_4 Houge-Janssens syndrome 4 Supplemental_disease_name DISEASE_NAME:hoxa10_related_disorder HOXA10-related disorder Supplemental_disease_name DISEASE_NAME:hoxa11_related_disorder HOXA11-related disorder Supplemental_disease_name DISEASE_NAME:hoxa13_related_disorder HOXA13-related disorder Supplemental_disease_name DISEASE_NAME:hoxa2_related_disorder HOXA2-related disorder Supplemental_disease_name DISEASE_NAME:hoxa4_related_disorder HOXA4-related disorder Supplemental_disease_name DISEASE_NAME:hoxb13_related_cancer_predisposition HOXB13-Related Cancer Predisposition Supplemental_disease_name DISEASE_NAME:hoxb13_related_disorder HOXB13-related disorder Supplemental_disease_name DISEASE_NAME:hoxb1_related_disorder HOXB1-related disorder Supplemental_disease_name DISEASE_NAME:hoxb6_related_disorder HOXB6-related disorder Supplemental_disease_name DISEASE_NAME:hoxc13_related_disorder HOXC13-related disorder Supplemental_disease_name DISEASE_NAME:hoxd10_related_disorder HOXD10-related disorder Supplemental_disease_name DISEASE_NAME:hoxd12_related_disorder HOXD12-related disorder Supplemental_disease_name DISEASE_NAME:hoxd13_related_disorder HOXD13-related disorder Supplemental_disease_name DISEASE_NAME:hoxd8_related_disorder HOXD8-related disorder Supplemental_disease_name DISEASE_NAME:hoxd9_related_disorder HOXD9-related disorder Supplemental_disease_name DISEASE_NAME:hoxha_aliu_syndrome Hoxha-Aliu syndrome Supplemental_disease_name DISEASE_NAME:hoyeraal_hreidarsson_syndrome Hoyeraal-Hreidarsson syndrome Supplemental_disease_name DISEASE_NAME:hoyeraal_hreidarsson_syndrome_autosomal_recessive_dyskeratosis_congenita Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita Supplemental_disease_name DISEASE_NAME:hoyeraal_hreidarsson_syndrome_autosomal_recessive_dyskeratosis_congenita_4 Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita 4 Supplemental_disease_name DISEASE_NAME:hoyeraal_hreidarsson_syndrome_dyskeratosis_congenita_autosomal_dominant_3_revesz_syndrome Hoyeraal-Hreidarsson syndrome;Dyskeratosis congenita, autosomal dominant 3;Revesz syndrome Supplemental_disease_name DISEASE_NAME:hp_0000729_autistic_spectrum_disorder HP:0000729 Autistic spectrum disorder Supplemental_disease_name DISEASE_NAME:hp_0000750_hp_0001263 HP:0000750; HP:0001263 Supplemental_disease_name DISEASE_NAME:hp_0000750_hp_0001263_hp_0001513 HP:0000750; HP:0001263; HP:0001513 Supplemental_disease_name DISEASE_NAME:hp_0001252_hp_0001776_hp_0000252_hp_0001270_hp_0000592 HP:0001252; HP:0001776; HP:0000252; HP:0001270; HP:0000592 Supplemental_disease_name DISEASE_NAME:hp_0003473_hp_0000508 HP:0003473; HP:0000508 Supplemental_disease_name DISEASE_NAME:hp_0003549 HP:0003549 Supplemental_disease_name DISEASE_NAME:hp_0004341 HP:0004341 Supplemental_disease_name DISEASE_NAME:hp_related_disorder HP-related disorder Supplemental_disease_name DISEASE_NAME:hpca_related_disorder HPCA-related disorder Supplemental_disease_name DISEASE_NAME:hpd_related_disorder HPD-related disorder Supplemental_disease_name DISEASE_NAME:hpdl_related_disorder HPDL-related disorder Supplemental_disease_name DISEASE_NAME:hpgd_related_disorder HPGD-related disorder Supplemental_disease_name DISEASE_NAME:hprt1_related_disorder HPRT1-related disorder Supplemental_disease_name DISEASE_NAME:hprt_ann_arbor HPRT ANN ARBOR Supplemental_disease_name DISEASE_NAME:hprt_arlington HPRT ARLINGTON Supplemental_disease_name DISEASE_NAME:hprt_ashville HPRT ASHVILLE Supplemental_disease_name DISEASE_NAME:hprt_chermside HPRT CHERMSIDE Supplemental_disease_name DISEASE_NAME:hprt_chicago HPRT CHICAGO Supplemental_disease_name DISEASE_NAME:hprt_connersville HPRT CONNERSVILLE Supplemental_disease_name DISEASE_NAME:hprt_coorparoo HPRT COORPAROO Supplemental_disease_name DISEASE_NAME:hprt_detroit HPRT DETROIT Supplemental_disease_name DISEASE_NAME:hprt_edinburgh HPRT EDINBURGH Supplemental_disease_name DISEASE_NAME:hprt_evansville HPRT EVANSVILLE Supplemental_disease_name DISEASE_NAME:hprt_flint HPRT FLINT Supplemental_disease_name DISEASE_NAME:hprt_fujimi HPRT FUJIMI Supplemental_disease_name DISEASE_NAME:hprt_london HPRT LONDON Supplemental_disease_name DISEASE_NAME:hprt_michigan HPRT MICHIGAN Supplemental_disease_name DISEASE_NAME:hprt_midland HPRT MIDLAND Supplemental_disease_name DISEASE_NAME:hprt_milwaukee HPRT MILWAUKEE Supplemental_disease_name DISEASE_NAME:hprt_montreal HPRT MONTREAL Supplemental_disease_name DISEASE_NAME:hprt_moose_jaw HPRT MOOSE JAW Supplemental_disease_name DISEASE_NAME:hprt_munich HPRT MUNICH Supplemental_disease_name DISEASE_NAME:hprt_new_briton HPRT NEW BRITON Supplemental_disease_name DISEASE_NAME:hprt_new_haven HPRT NEW HAVEN Supplemental_disease_name DISEASE_NAME:hprt_paris HPRT PARIS Supplemental_disease_name DISEASE_NAME:hprt_swan HPRT SWAN Supplemental_disease_name DISEASE_NAME:hprt_tokyo HPRT TOKYO Supplemental_disease_name DISEASE_NAME:hprt_toowong HPRT TOOWONG Supplemental_disease_name DISEASE_NAME:hprt_toronto HPRT TORONTO Supplemental_disease_name DISEASE_NAME:hprt_urangan HPRT URANGAN Supplemental_disease_name DISEASE_NAME:hprt_yale HPRT YALE Supplemental_disease_name DISEASE_NAME:hps1_related_disorder HPS1-related disorder Supplemental_disease_name DISEASE_NAME:hps3_related_disorder HPS3-related disorder Supplemental_disease_name DISEASE_NAME:hps4_related_disorder HPS4-related disorder Supplemental_disease_name DISEASE_NAME:hps5_related_disorder HPS5-related disorder Supplemental_disease_name DISEASE_NAME:hps6_related_disorder HPS6-related disorder Supplemental_disease_name DISEASE_NAME:hpse2_related_disorder HPSE2-related disorder Supplemental_disease_name DISEASE_NAME:hpse_related_disorder HPSE-related disorder Supplemental_disease_name DISEASE_NAME:hr_related_disorder HR-related disorder Supplemental_disease_name DISEASE_NAME:hras_related_disorder HRAS-related disorder Supplemental_disease_name DISEASE_NAME:hrg_related_disorder HRG-related disorder Supplemental_disease_name DISEASE_NAME:hs2st1_related_disorder HS2ST1-related disorder Supplemental_disease_name DISEASE_NAME:hs6st1_related_disorder HS6ST1-related disorder Supplemental_disease_name DISEASE_NAME:hs6st2_related_disorder HS6ST2-related disorder Supplemental_disease_name DISEASE_NAME:hsd10_mitochondrial_disease HSD10 mitochondrial disease Supplemental_disease_name DISEASE_NAME:hsd11b1_related_disorder HSD11B1-related disorder Supplemental_disease_name DISEASE_NAME:hsd11b2_related_disorder HSD11B2-related disorder Supplemental_disease_name DISEASE_NAME:hsd17b10_related_disorder HSD17B10-related disorder Supplemental_disease_name DISEASE_NAME:hsd17b13_polymorphism HSD17B13 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:hsd17b3_related_disorder HSD17B3-related disorder Supplemental_disease_name DISEASE_NAME:hsd17b4_related_disorder HSD17B4-related disorder Supplemental_disease_name DISEASE_NAME:hsd3b2_related_disorder HSD3B2-related disorder Supplemental_disease_name DISEASE_NAME:hsd3b7_related_disorder HSD3B7-related disorder Supplemental_disease_name DISEASE_NAME:hsf4_related_disorder HSF4-related disorder Supplemental_disease_name DISEASE_NAME:hspa1l_related_disorder HSPA1L-related disorder Supplemental_disease_name DISEASE_NAME:hspa9_related_disorder HSPA9-related disorder Supplemental_disease_name DISEASE_NAME:hspb1_related_axonal_neuropathies HSPB1-related axonal neuropathies Supplemental_disease_name DISEASE_NAME:hspb1_related_disorder HSPB1-related disorder Supplemental_disease_name DISEASE_NAME:hspb8_related_disorder HSPB8-related disorder Supplemental_disease_name DISEASE_NAME:hspb8_related_neuromuscular_disorder HSPB8-related neuromuscular disorder Supplemental_disease_name DISEASE_NAME:hspd1_related_disorder HSPD1-related disorder Supplemental_disease_name DISEASE_NAME:hspe1_related_condition HSPE1-related condition Supplemental_disease_name DISEASE_NAME:hspg2_realted_disorder HSPG2-realted disorder Supplemental_disease_name DISEASE_NAME:hspg2_related_disorder HSPG2-related disorder Supplemental_disease_name DISEASE_NAME:htatsf1_related_disorder HTATSF1-related disorder Supplemental_disease_name DISEASE_NAME:htr1a_related_disorder HTR1A-related disorder Supplemental_disease_name DISEASE_NAME:htr2a_related_disorder HTR2A-related disorder Supplemental_disease_name DISEASE_NAME:htr2c_polymorphism HTR2C POLYMORPHISM Supplemental_disease_name DISEASE_NAME:htr2c_related_disorder HTR2C-related disorder Supplemental_disease_name DISEASE_NAME:htra1_related_autosomal_dominant_cerebral_small_vessel_disease HTRA1-related autosomal dominant cerebral small vessel disease Supplemental_disease_name DISEASE_NAME:htra1_related_cerebral_small_vessel_disease HTRA1-related cerebral small vessel disease Supplemental_disease_name DISEASE_NAME:htra1_related_disorder HTRA1-related disorder Supplemental_disease_name DISEASE_NAME:htra2_related_disorder HTRA2-related disorder Supplemental_disease_name DISEASE_NAME:htra2_related_disorders HTRA2-Related Disorders Supplemental_disease_name DISEASE_NAME:htt_related_disorder HTT-related disorder Supplemental_disease_name DISEASE_NAME:https_www_omim_org_entry_615493 https://www.omim.org/entry/615493 Supplemental_disease_name DISEASE_NAME:human_hoxa1_syndromes Human HOXA1 syndromes Supplemental_disease_name DISEASE_NAME:human_immunodeficiency_virus_dementia_susceptibility_to HUMAN IMMUNODEFICIENCY VIRUS DEMENTIA, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:human_immunodeficiency_virus_type_1_delayed_disease_progression_with_infection_by Human immunodeficiency virus type 1, delayed disease progression with infection by Supplemental_disease_name DISEASE_NAME:human_immunodeficiency_virus_type_1_increased_perinatal_transmission_of Human immunodeficiency virus type 1, increased perinatal transmission of Supplemental_disease_name DISEASE_NAME:human_immunodeficiency_virus_type_1_rapid_disease_progression_with_infection_by Human immunodeficiency virus type 1, rapid disease progression with infection by Supplemental_disease_name DISEASE_NAME:human_immunodeficiency_virus_type_1_rapid_progression_to_aids HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS Supplemental_disease_name DISEASE_NAME:human_split_hand_foot_malformation_type_3 human split-hand/foot malformation type 3 Supplemental_disease_name DISEASE_NAME:humerofemoral_hypoplasia_with_radiotibial_ray_deficiency Humerofemoral hypoplasia with radiotibial ray deficiency Supplemental_disease_name DISEASE_NAME:hunter_mcalpine_craniosynostosis Hunter-McAlpine craniosynostosis Supplemental_disease_name DISEASE_NAME:huntington_disease_like_1_spongiform_encephalopathy_with_neuropsychiatric_features_gerstmann_straussler_scheinker_syndrome Huntington disease-like 1;Spongiform encephalopathy with neuropsychiatric features;Gerstmann-Straussler-Scheinker syndrome Supplemental_disease_name DISEASE_NAME:huntington_disease_like_syndrome Huntington disease-like syndrome Supplemental_disease_name DISEASE_NAME:huntington_disease_lopes_maciel_rodan_syndrome Huntington disease;Lopes-Maciel-Rodan syndrome Supplemental_disease_name DISEASE_NAME:huppke_brendel_syndrome Huppke-Brendel syndrome Supplemental_disease_name DISEASE_NAME:huppke_brendel_syndrome_hereditary_spastic_paraplegia_42 Huppke-Brendel syndrome;Hereditary spastic paraplegia 42 Supplemental_disease_name DISEASE_NAME:hurler_syndrome_mucopolysaccharidosis_mps_i_h_s_mucopolysaccharidosis_mps_i_s Hurler syndrome;Mucopolysaccharidosis, MPS-I-H/S;Mucopolysaccharidosis, MPS-I-S Supplemental_disease_name DISEASE_NAME:hurler_syndrome_mucopolysaccharidosis_mps_i_s_mucopolysaccharidosis_mps_i_h_s Hurler syndrome;Mucopolysaccharidosis, MPS-I-S;Mucopolysaccharidosis, MPS-I-H/S Supplemental_disease_name DISEASE_NAME:hurthle_cell_carcinoma_of_thyroid Hurthle cell carcinoma of thyroid Supplemental_disease_name DISEASE_NAME:hutchinson_gilford_progeria_syndrome_atypical Hutchinson-Gilford progeria syndrome, atypical Supplemental_disease_name DISEASE_NAME:hutchinson_gilford_progeria_syndrome_childhood_onset Hutchinson-Gilford progeria syndrome, childhood-onset Supplemental_disease_name DISEASE_NAME:huwe1_related_disorder HUWE1-related disorder Supplemental_disease_name DISEASE_NAME:huwe1_related_neurodevelopmental_disorder HUWE1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:hyal1_related_disorder HYAL1-related disorder Supplemental_disease_name DISEASE_NAME:hyal2_deficiency HYAL2 Deficiency Supplemental_disease_name DISEASE_NAME:hyal2_related_disorder HYAL2-related disorder Supplemental_disease_name DISEASE_NAME:hyalinosis_segmental_glomerular Hyalinosis, Segmental Glomerular Supplemental_disease_name DISEASE_NAME:hycc1_related_disorder HYCC1-related disorder Supplemental_disease_name DISEASE_NAME:hydatidiform_mole_recurrent_1 Hydatidiform mole, recurrent, 1 Supplemental_disease_name DISEASE_NAME:hydatidiform_mole_recurrent_2 Hydatidiform mole, recurrent, 2 Supplemental_disease_name DISEASE_NAME:hydatidiform_mole_recurrent_3 Hydatidiform mole, recurrent, 3 Supplemental_disease_name DISEASE_NAME:hydatidiform_mole_recurrent_4 Hydatidiform mole, recurrent, 4 Supplemental_disease_name DISEASE_NAME:hydin_related_disorder HYDIN-related disorder Supplemental_disease_name DISEASE_NAME:hydranencephaly_neonatal_death_severe_brain_malformation_severe_cerebellar_hypoplasia Hydranencephaly;Neonatal death;Severe brain malformation;Severe cerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:hydranencephaly_with_abnormal_genitalia Hydranencephaly with abnormal genitalia Supplemental_disease_name DISEASE_NAME:hydrocephalus_congenital_3_with_brain_anomalies Hydrocephalus, congenital, 3, with brain anomalies Supplemental_disease_name DISEASE_NAME:hydrocephalus_congenital_3_with_brain_anomalies_cerebellar_ataxia_intellectual_disability_and_dysequilibrium_syndrome_2 Hydrocephalus, congenital, 3, with brain anomalies;Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 Supplemental_disease_name DISEASE_NAME:hydrocephalus_congenital_5_susceptibility_to Hydrocephalus, congenital, 5, susceptibility to Supplemental_disease_name DISEASE_NAME:hydrocephalus_congenital_communicating_1 Hydrocephalus, congenital communicating, 1 Supplemental_disease_name DISEASE_NAME:hydrocephalus_myofibromatosis_infantile_1 Hydrocephalus;Myofibromatosis, infantile, 1 Supplemental_disease_name DISEASE_NAME:hydrocephalus_nonsyndromic_autosomal_recessive_1 Hydrocephalus, nonsyndromic, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:hydrocephalus_nonsyndromic_autosomal_recessive_1_spinocerebellar_ataxia_type_40 Hydrocephalus, nonsyndromic, autosomal recessive 1;Spinocerebellar ataxia type 40 Supplemental_disease_name DISEASE_NAME:hydrocephalus_nonsyndromic_autosomal_recessive_2 Hydrocephalus, nonsyndromic, autosomal recessive 2 Supplemental_disease_name DISEASE_NAME:hydrocephalus_nonsyndromic_autosomal_recessive_2_autosomal_dominant_retinitis_pigmentosa Hydrocephalus, nonsyndromic, autosomal recessive 2;Autosomal dominant retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:hydrocephalus_x_linked_with_congenital_idiopathic_intestinal_pseudoobstruction Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction Supplemental_disease_name DISEASE_NAME:hydrochlorothiazide_response_efficacy hydrochlorothiazide response - Efficacy Supplemental_disease_name DISEASE_NAME:hydrolethalus_syndrome_2_acrocallosal_syndrome_multiple_epiphyseal_dysplasia_al_gazali_type Hydrolethalus syndrome 2;Acrocallosal syndrome;Multiple epiphyseal dysplasia, Al-Gazali type Supplemental_disease_name DISEASE_NAME:hydrolethalus_syndrome_2_multiple_epiphyseal_dysplasia_al_gazali_type_acrocallosal_syndrome Hydrolethalus syndrome 2;Multiple epiphyseal dysplasia, Al-Gazali type;Acrocallosal syndrome Supplemental_disease_name DISEASE_NAME:hydrolethalus_syndrome_acrocallosal_syndrome Hydrolethalus syndrome;Acrocallosal syndrome Supplemental_disease_name DISEASE_NAME:hydrops_fetalis Hydrops fetalis Supplemental_disease_name DISEASE_NAME:hydrops_fetalis_cerebral_venous_angioma Hydrops fetalis;Cerebral venous angioma Supplemental_disease_name DISEASE_NAME:hydrops_fetalis_fetal_ascites_pleural_effusion Hydrops fetalis;Fetal ascites;Pleural effusion Supplemental_disease_name DISEASE_NAME:hydrops_fetalis_polyhydramnios Hydrops fetalis;Polyhydramnios Supplemental_disease_name DISEASE_NAME:hydrops_fetalis_severe_hydrocephalus Hydrops fetalis;Severe hydrocephalus Supplemental_disease_name DISEASE_NAME:hydrops_lactic_acidosis_and_sideroblastic_anemia Hydrops, lactic acidosis, and sideroblastic anemia Supplemental_disease_name DISEASE_NAME:hydrops_lactic_acidosis_sideroblastic_anemia_multisystemic_failure_syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome Supplemental_disease_name DISEASE_NAME:hydroxykynureninuria_vertebral_cardiac_renal_and_limb_defects_syndrome_2 Hydroxykynureninuria;Vertebral, cardiac, renal, and limb defects syndrome 2 Supplemental_disease_name DISEASE_NAME:hyls1_related_disorder HYLS1-related disorder Supplemental_disease_name DISEASE_NAME:hyou1_related_disorder HYOU1-related disorder Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome Hyper-IgE recurrent infection syndrome Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_1_autosomal_dominant Hyper-IgE recurrent infection syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_1_autosomal_dominant_stat3_gain_of_function Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_1_autosomal_dominant_stat3_related_early_onset_multisystem_autoimmune_disease Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3-related early-onset multisystem autoimmune disease Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_3_autosomal_recessive Hyper-IgE recurrent infection syndrome 3, autosomal recessive Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_4_autosomal_recessive Hyper-IgE recurrent infection syndrome 4, autosomal recessive Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_4_autosomal_recessive_immunodeficiency_94_with_autoinflammation_and_dysmorphic_facies_hyper_ige_recurrent_infection_syndrome_4a_autosomal_dominant_stuve_wiedemann_syndrome_2 Hyper-IgE recurrent infection syndrome 4, autosomal recessive;Immunodeficiency 94 with autoinflammation and dysmorphic facies;Hyper-IgE recurrent infection syndrome 4A, autosomal dominant;Stuve-Wiedemann syndrome 2 Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_4_autosomal_recessive_stuve_wiedemann_syndrome_2_hyper_ige_recurrent_infection_syndrome_4a_autosomal_dominant Hyper-IgE recurrent infection syndrome 4, autosomal recessive;Stuve-Wiedemann syndrome 2;Hyper-IgE recurrent infection syndrome 4A, autosomal dominant Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_4_autosomal_recessive_stuve_wiedemann_syndrome_2_immunodeficiency_94_with_autoinflammation_and_dysmorphic_facies_hyper_ige_recurrent_infection_syndrome_4a_autosomal_dominant Hyper-IgE recurrent infection syndrome 4, autosomal recessive;Stuve-Wiedemann syndrome 2;Immunodeficiency 94 with autoinflammation and dysmorphic facies;Hyper-IgE recurrent infection syndrome 4A, autosomal dominant Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_4a_autosomal_dominant Hyper-IgE recurrent infection syndrome 4A, autosomal dominant Supplemental_disease_name DISEASE_NAME:hyper_ige_recurrent_infection_syndrome_5_autosomal_recessive Hyper-IgE recurrent infection syndrome 5, autosomal recessive Supplemental_disease_name DISEASE_NAME:hyper_ige_syndrome_6_autosomal_dominant_with_recurrent_infections Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections Supplemental_disease_name DISEASE_NAME:hyper_igm_syndrome_type_3 Hyper-IgM syndrome type 3 Supplemental_disease_name DISEASE_NAME:hyper_igm_syndrome_type_5 Hyper-IgM syndrome type 5 Supplemental_disease_name DISEASE_NAME:hyperactivity_microcephaly_delayed_speech_and_language_development Hyperactivity;Microcephaly;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:hyperaldosteronism_familial_type_iv Hyperaldosteronism, familial, type IV Supplemental_disease_name DISEASE_NAME:hyperaldosteronism_familial_type_iv_epilepsy_childhood_absence_susceptibility_to_6 Hyperaldosteronism, familial, type IV;Epilepsy, childhood absence, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:hyperaldosteronism_familial_type_iv_idiopathic_generalized_epilepsy Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy Supplemental_disease_name DISEASE_NAME:hyperalphalipoproteinemia Hyperalphalipoproteinemia Supplemental_disease_name DISEASE_NAME:hyperammonemia Hyperammonemia Supplemental_disease_name DISEASE_NAME:hyperammonemia_protein_avoidance_abnormal_circulating_ornithine_concentration Hyperammonemia;Protein avoidance;Abnormal circulating ornithine concentration Supplemental_disease_name DISEASE_NAME:hyperammonemia_type_iii Hyperammonemia, type III Supplemental_disease_name DISEASE_NAME:hyperammonemic_encephalopathy_due_to_carbonic_anhydrase_va_deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Supplemental_disease_name DISEASE_NAME:hyperandrogenism_nonclassic_type_due_to_21_hydroxylase_deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Supplemental_disease_name DISEASE_NAME:hyperapobetalipoproteinemia_susceptibility_to Hyperapobetalipoproteinemia, susceptibility to Supplemental_disease_name DISEASE_NAME:hyperbiliverdinemia Hyperbiliverdinemia Supplemental_disease_name DISEASE_NAME:hypercalcaemia_hypocalciuric Hypercalcaemia, hypocalciuric Supplemental_disease_name DISEASE_NAME:hypercalcemia_infantile_1 Hypercalcemia, infantile, 1 Supplemental_disease_name DISEASE_NAME:hypercalcemia_infantile_2 Hypercalcemia, infantile, 2 Supplemental_disease_name DISEASE_NAME:hypercalcemia_infantile_2_fanconi_renotubular_syndrome_2 Hypercalcemia, infantile, 2;Fanconi renotubular syndrome 2 Supplemental_disease_name DISEASE_NAME:hypercalcemia_infantile_2_fanconi_renotubular_syndrome_2_hypophosphatemic_nephrolithiasis_osteoporosis_1 Hypercalcemia, infantile, 2;Fanconi renotubular syndrome 2;Hypophosphatemic nephrolithiasis/osteoporosis 1 Supplemental_disease_name DISEASE_NAME:hypercalcemia_infantile_2_hypophosphatemic_nephrolithiasis_osteoporosis_1_fanconi_renotubular_syndrome_2 Hypercalcemia, infantile, 2;Hypophosphatemic nephrolithiasis/osteoporosis 1;Fanconi renotubular syndrome 2 Supplemental_disease_name DISEASE_NAME:hypercalciuria Hypercalciuria Supplemental_disease_name DISEASE_NAME:hypercalciuria_childhood_self_limiting HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING Supplemental_disease_name DISEASE_NAME:hypercholanemia Hypercholanemia Supplemental_disease_name DISEASE_NAME:hypercholanemia_familial Hypercholanemia, familial Supplemental_disease_name DISEASE_NAME:hypercholanemia_familial_1 Hypercholanemia, familial 1 Supplemental_disease_name DISEASE_NAME:hypercholanemia_familial_1_cholestasis_progressive_familial_intrahepatic_4 Hypercholanemia, familial 1;Cholestasis, progressive familial intrahepatic, 4 Supplemental_disease_name DISEASE_NAME:hypercholanemia_familial_2 Hypercholanemia, familial, 2 Supplemental_disease_name DISEASE_NAME:hypercholesterolemia Hypercholesterolemia Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_autosomal_dominant_3 Hypercholesterolemia, autosomal dominant, 3 Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_autosomal_dominant_type_b Hypercholesterolemia, autosomal dominant, type B Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_autosomal_dominant_type_b_familial_hypobetalipoproteinemia_1 Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia 1 Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_autosomal_dominant_type_b_muscle_amp_deaminase_deficiency Hypercholesterolemia, autosomal dominant, type B;Muscle AMP deaminase deficiency Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_familial_1 Hypercholesterolemia, familial, 1 Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_familial_1_laron_type_isolated_somatotropin_defect Hypercholesterolemia, familial, 1;Laron-type isolated somatotropin defect Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_familial_1_laron_type_isolated_somatotropin_defect_short_stature_due_to_partial_ghr_deficiency Hypercholesterolemia, familial, 1;Laron-type isolated somatotropin defect;Short stature due to partial GHR deficiency Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_familial_1_short_stature_due_to_partial_ghr_deficiency_laron_type_isolated_somatotropin_defect Hypercholesterolemia, familial, 1;Short stature due to partial GHR deficiency;Laron-type isolated somatotropin defect Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_familial_4 Hypercholesterolemia, familial, 4 Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_familial_4_hypercholesterolemia_familial_1 Hypercholesterolemia, familial, 4;Hypercholesterolemia, familial, 1 Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_susceptibility_to Hypercholesterolemia, susceptibility to Supplemental_disease_name DISEASE_NAME:hyperckmia HyperCKmia Supplemental_disease_name DISEASE_NAME:hypercoagulability_syndrome_due_to_glycosylphosphatidylinositol_deficiency Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Supplemental_disease_name DISEASE_NAME:hyperechogenic_kidneys Hyperechogenic kidneys Supplemental_disease_name DISEASE_NAME:hyperekplexia_1_sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_c Hyperekplexia 1;Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Supplemental_disease_name DISEASE_NAME:hyperemesis_gravidarum_susceptibility_to Hyperemesis gravidarum, susceptibility to Supplemental_disease_name DISEASE_NAME:hypereosinophilic_syndrome_idiopathic_resistant_to_imatinib Hypereosinophilic syndrome, idiopathic, resistant to imatinib Supplemental_disease_name DISEASE_NAME:hyperextensible_hand_joints_fatigue_limb_girdle_muscle_weakness_muscular_dystrophy Hyperextensible hand joints;Fatigue;Limb-girdle muscle weakness;Muscular dystrophy Supplemental_disease_name DISEASE_NAME:hyperglycinuria Hyperglycinuria Supplemental_disease_name DISEASE_NAME:hyperglycinuria_iminoglycinuria Hyperglycinuria;Iminoglycinuria Supplemental_disease_name DISEASE_NAME:hyperglycinuria_iminoglycinuria_neutral_1_amino_acid_transport_defect Hyperglycinuria;Iminoglycinuria;Neutral 1 amino acid transport defect Supplemental_disease_name DISEASE_NAME:hyperglycinuria_neutral_1_amino_acid_transport_defect_iminoglycinuria Hyperglycinuria;Neutral 1 amino acid transport defect;Iminoglycinuria Supplemental_disease_name DISEASE_NAME:hyperhomocysteinemia_thrombotic_cbs_related HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Supplemental_disease_name DISEASE_NAME:hyperhydroxyprolinemia Hyperhydroxyprolinemia Supplemental_disease_name DISEASE_NAME:hyperimmunoglobulin_d_with_periodic_fever Hyperimmunoglobulin D with periodic fever Supplemental_disease_name DISEASE_NAME:hyperimmunoglobulin_d_with_periodic_fever_mevalonic_aciduria Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria Supplemental_disease_name DISEASE_NAME:hyperimmunoglobulin_d_with_periodic_fever_mevalonic_aciduria_porokeratosis_3_disseminated_superficial_actinic_type Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria;Porokeratosis 3, disseminated superficial actinic type Supplemental_disease_name DISEASE_NAME:hyperimmunoglobulin_d_with_periodic_fever_porokeratosis_3_disseminated_superficial_actinic_type_mevalonic_aciduria Hyperimmunoglobulin D with periodic fever;Porokeratosis 3, disseminated superficial actinic type;Mevalonic aciduria Supplemental_disease_name DISEASE_NAME:hyperimmunoglobulin_e_recurrent_infection_syndrome Hyperimmunoglobulin e recurrent infection syndrome Supplemental_disease_name DISEASE_NAME:hyperimmunoglobulinemia_d_and_periodic_fever_syndrome Hyperimmunoglobulinemia D and periodic fever syndrome Supplemental_disease_name DISEASE_NAME:hyperinsulinemia_atopic_eczema_hypoglycemia_hypertrichosis Hyperinsulinemia;Atopic eczema;Hypoglycemia;Hypertrichosis Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_1 Hyperinsulinemic hypoglycemia, familial, 1 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_1_diabetes_mellitus_permanent_neonatal_3 Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_1_leucine_induced_hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_1_type_2_diabetes_mellitus Hyperinsulinemic hypoglycemia, familial, 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_2 Hyperinsulinemic hypoglycemia, familial, 2 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_2_maturity_onset_diabetes_of_the_young_type_13 Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_2_permanent_neonatal_diabetes_mellitus_1_diabetes_mellitus_transient_neonatal_3 Hyperinsulinemic hypoglycemia, familial, 2;Permanent neonatal diabetes mellitus 1;Diabetes mellitus, transient neonatal, 3 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_3 Hyperinsulinemic hypoglycemia, familial, 3 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_3_maturity_onset_diabetes_of_the_young_type_2_type_2_diabetes_mellitus Hyperinsulinemic hypoglycemia, familial, 3;Maturity-onset diabetes of the young type 2;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_3_maturity_onset_diabetes_of_the_young_type_2_type_2_diabetes_mellitus_permanent_neonatal_diabetes_mellitus Hyperinsulinemic hypoglycemia, familial, 3;Maturity-onset diabetes of the young type 2;Type 2 diabetes mellitus;Permanent neonatal diabetes mellitus Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_3_maturity_onset_diabetes_of_the_young_type_2_type_2_diabetes_mellitus_permanent_neonatal_diabetes_mellitus_1 Hyperinsulinemic hypoglycemia, familial, 3;Maturity-onset diabetes of the young type 2;Type 2 diabetes mellitus;Permanent neonatal diabetes mellitus 1 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_3_permanent_neonatal_diabetes_mellitus_1_maturity_onset_diabetes_of_the_young_type_2_type_2_diabetes_mellitus Hyperinsulinemic hypoglycemia, familial, 3;Permanent neonatal diabetes mellitus 1;Maturity-onset diabetes of the young type 2;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_3_permanent_neonatal_diabetes_mellitus_1_type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_2 Hyperinsulinemic hypoglycemia, familial, 3;Permanent neonatal diabetes mellitus 1;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 2 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_3_type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_2 Hyperinsulinemic hypoglycemia, familial, 3;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 2 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_3_type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_2_permanent_neonatal_diabetes_mellitus_1 Hyperinsulinemic hypoglycemia, familial, 3;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 2;Permanent neonatal diabetes mellitus 1 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_4 Hyperinsulinemic hypoglycemia, familial, 4 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_8 Hyperinsulinemic hypoglycemia, familial, 8 Supplemental_disease_name DISEASE_NAME:hyperinsulinism_due_to_hnf1a_deficiency Hyperinsulinism due to HNF1A deficiency Supplemental_disease_name DISEASE_NAME:hyperinsulinism_due_to_hnf4a_deficiency Hyperinsulinism due to HNF4A deficiency Supplemental_disease_name DISEASE_NAME:hyperinsulinism_due_to_insr_deficiency_insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans Hyperinsulinism due to INSR deficiency;Insulin-resistant diabetes mellitus AND acanthosis nigricans Supplemental_disease_name DISEASE_NAME:hyperinsulinism_due_to_insr_deficiency_insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans_leprechaunism_syndrome_rabson_mendenhall_syndrome Hyperinsulinism due to INSR deficiency;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Rabson-Mendenhall syndrome Supplemental_disease_name DISEASE_NAME:hyperinsulinism_due_to_insr_deficiency_leprechaunism_syndrome_rabson_mendenhall_syndrome_insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans Hyperinsulinism due to INSR deficiency;Leprechaunism syndrome;Rabson-Mendenhall syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans Supplemental_disease_name DISEASE_NAME:hyperkalemia_multiple_small_medullary_renal_cysts_low_molecular_weight_proteinuria Hyperkalemia;Multiple small medullary renal cysts;Low-molecular-weight proteinuria Supplemental_disease_name DISEASE_NAME:hyperkeratotic_cutaneous_capillary_venous_malformations_associated_with_cerebral_capillary_malformations Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations Supplemental_disease_name DISEASE_NAME:hyperlactaemia_axial_hypotonia_epilepsy_developmental_delay Hyperlactaemia;Axial hypotonia;Epilepsy;Developmental delay Supplemental_disease_name DISEASE_NAME:hyperlaxity_developmental_delay_thin_skin Hyperlaxity;Developmental delay;Thin skin Supplemental_disease_name DISEASE_NAME:hyperlipidemia Hyperlipidemia Supplemental_disease_name DISEASE_NAME:hyperlipidemia_due_to_hepatic_triglyceride_lipase_deficiency Hyperlipidemia due to hepatic triglyceride lipase deficiency Supplemental_disease_name DISEASE_NAME:hyperlipidemia_due_to_hepatic_triglyceride_lipase_deficiency_type_1_diabetes_mellitus_2_high_density_lipoprotein_cholesterol_level_quantitative_trait_locus_12 Hyperlipidemia due to hepatic triglyceride lipase deficiency;Type 1 diabetes mellitus 2;High density lipoprotein cholesterol level quantitative trait locus 12 Supplemental_disease_name DISEASE_NAME:hyperlipidemia_due_to_hepatic_triglyceride_lipase_deficiency_type_2_diabetes_mellitus Hyperlipidemia due to hepatic triglyceride lipase deficiency;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:hyperlipidemia_familial_combined_lpl_related Hyperlipidemia, familial combined, LPL related Supplemental_disease_name DISEASE_NAME:hyperlipidemia_familial_combined_lpl_related_hyperlipoproteinemia_type_i Hyperlipidemia, familial combined, LPL related;Hyperlipoproteinemia, type I Supplemental_disease_name DISEASE_NAME:hyperlipidemia_familial_combined_susceptibility_to Hyperlipidemia, familial combined, susceptibility to Supplemental_disease_name DISEASE_NAME:hyperlipoproteinemia Hyperlipoproteinemia Supplemental_disease_name DISEASE_NAME:hyperlipoproteinemia_type_i Hyperlipoproteinemia, type I Supplemental_disease_name DISEASE_NAME:hyperlipoproteinemia_type_i_hyperlipidemia_familial_combined_lpl_related Hyperlipoproteinemia, type I;Hyperlipidemia, familial combined, LPL related Supplemental_disease_name DISEASE_NAME:hyperlipoproteinemia_type_iii_and_atherosclerosis_associated_with_apoe5 HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 Supplemental_disease_name DISEASE_NAME:hyperlipoproteinemia_type_iii_associated_with_apoe3_washington HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) Supplemental_disease_name DISEASE_NAME:hyperlipoproteinemia_type_iii_due_to_apoe2 Hyperlipoproteinemia, type III, due to APOE2 Supplemental_disease_name DISEASE_NAME:hyperlipoproteinemia_type_iv_v_due_to_apoe2_dunedin HYPERLIPOPROTEINEMIA, TYPE IV/V, DUE TO APOE2-DUNEDIN Supplemental_disease_name DISEASE_NAME:hyperlysinemia_saccharopinuria Hyperlysinemia;Saccharopinuria Supplemental_disease_name DISEASE_NAME:hyperlysinemia_type_i HYPERLYSINEMIA, TYPE I Supplemental_disease_name DISEASE_NAME:hypermanganesemia_with_dystonia_2_hyperostosis_cranialis_interna Hypermanganesemia with dystonia 2;Hyperostosis cranialis interna Supplemental_disease_name DISEASE_NAME:hypermanganesemia_with_dystonia_polycythemia_and_cirrhosis Hypermanganesemia with dystonia, polycythemia, and cirrhosis Supplemental_disease_name DISEASE_NAME:hypermetabolism_due_to_defect_in_mitochondrial_coupling Hypermetabolism due to Defect in Mitochondrial Coupling Supplemental_disease_name DISEASE_NAME:hypermetabolism_due_to_uncoupled_mitochondrial_oxidative_phosphorylation Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation Supplemental_disease_name DISEASE_NAME:hypermetabolism_due_to_uncoupled_mitochondrial_oxidative_phosphorylation_2 Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 Supplemental_disease_name DISEASE_NAME:hypermethioninemia_with_s_adenosylhomocysteine_hydrolase_deficiency Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Supplemental_disease_name DISEASE_NAME:hyperornithinemia Hyperornithinemia Supplemental_disease_name DISEASE_NAME:hyperornithinemia_hyperammonemia_homocitrullinuria_syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Supplemental_disease_name DISEASE_NAME:hyperornithinemia_with_gyrate_atrophy_of_choroid_and_retina Hyperornithinemia with gyrate atrophy of choroid and retina Supplemental_disease_name DISEASE_NAME:hyperostosis_cranialis_interna Hyperostosis cranialis interna Supplemental_disease_name DISEASE_NAME:hyperoxaluria Hyperoxaluria Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_1 Hyperparathyroidism 1 Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_1_hyperparathyroidism_2_with_jaw_tumors_parathyroid_carcinoma Hyperparathyroidism 1;Hyperparathyroidism 2 with jaw tumors;Parathyroid carcinoma Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_1_parathyroid_carcinoma_hyperparathyroidism_2_with_jaw_tumors Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_2_with_jaw_tumors Hyperparathyroidism 2 with jaw tumors Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_2_with_jaw_tumors_hyperparathyroidism_1_parathyroid_carcinoma Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1;Parathyroid carcinoma Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_2_with_jaw_tumors_parathyroid_carcinoma_hyperparathyroidism_1 Hyperparathyroidism 2 with jaw tumors;Parathyroid carcinoma;Hyperparathyroidism 1 Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_4 Hyperparathyroidism 4 Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_4_hypoparathyroidism_familial_isolated_2 Hyperparathyroidism 4;Hypoparathyroidism, familial isolated, 2 Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_transient_neonatal Hyperparathyroidism, transient neonatal Supplemental_disease_name DISEASE_NAME:hyperphenylalaninemia Hyperphenylalaninemia Supplemental_disease_name DISEASE_NAME:hyperphenylalaninemia_bh4_deficient_a_due_to_partial_pts_deficiency Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Supplemental_disease_name DISEASE_NAME:hyperphenylalaninemia_due_to_dnajc12_deficiency Hyperphenylalaninemia due to DNAJC12 deficiency Supplemental_disease_name DISEASE_NAME:hyperphenylalaninemia_due_to_tetrahydrobiopterin_deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Supplemental_disease_name DISEASE_NAME:hyperphosphatasemia_with_bone_disease Hyperphosphatasemia with bone disease Supplemental_disease_name DISEASE_NAME:hyperphosphatasia_intellectual_disability_syndrome Hyperphosphatasia-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:hyperphosphatasia_with_intellectual_disability_syndrome_1 Hyperphosphatasia with intellectual disability syndrome 1 Supplemental_disease_name DISEASE_NAME:hyperphosphatasia_with_intellectual_disability_syndrome_2 Hyperphosphatasia with intellectual disability syndrome 2 Supplemental_disease_name DISEASE_NAME:hyperphosphatasia_with_intellectual_disability_syndrome_3 Hyperphosphatasia with intellectual disability syndrome 3 Supplemental_disease_name DISEASE_NAME:hyperphosphatasia_with_intellectual_disability_syndrome_4 Hyperphosphatasia with intellectual disability syndrome 4 Supplemental_disease_name DISEASE_NAME:hyperphosphatasia_with_intellectual_disability_syndrome_5 Hyperphosphatasia with intellectual disability syndrome 5 Supplemental_disease_name DISEASE_NAME:hyperphosphatasia_with_intellectual_disability_syndrome_6 Hyperphosphatasia with intellectual disability syndrome 6 Supplemental_disease_name DISEASE_NAME:hyperpigmentation_of_the_skin Hyperpigmentation of the skin Supplemental_disease_name DISEASE_NAME:hyperpigmentation_with_or_without_hypopigmentation_familial_progressive Hyperpigmentation with or without hypopigmentation, familial progressive Supplemental_disease_name DISEASE_NAME:hyperpigmentation_with_or_without_hypopigmentation_familial_progressive_autosomal_dominant_nonsyndromic_hearing_loss_69_skin_hair_eye_pigmentation_7_dark_light_skin Hyperpigmentation with or without hypopigmentation, familial progressive;Autosomal dominant nonsyndromic hearing loss 69;SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN Supplemental_disease_name DISEASE_NAME:hyperplastic_polyposis_syndrome Hyperplastic polyposis syndrome Supplemental_disease_name DISEASE_NAME:hyperproinsulinemia Hyperproinsulinemia Supplemental_disease_name DISEASE_NAME:hyperproinsulinemia_maturity_onset_diabetes_of_the_young_type_10_diabetes_mellitus_permanent_neonatal_4_type_1_diabetes_mellitus_2 Hyperproinsulinemia;Maturity-onset diabetes of the young type 10;Diabetes mellitus, permanent neonatal 4;Type 1 diabetes mellitus 2 Supplemental_disease_name DISEASE_NAME:hyperproinsulinemia_type_1_diabetes_mellitus_2_maturity_onset_diabetes_of_the_young_type_10 Hyperproinsulinemia;Type 1 diabetes mellitus 2;Maturity-onset diabetes of the young type 10 Supplemental_disease_name DISEASE_NAME:hyperproinsulinemia_type_1_diabetes_mellitus_2_maturity_onset_diabetes_of_the_young_type_10_diabetes_mellitus_permanent_neonatal_4 Hyperproinsulinemia;Type 1 diabetes mellitus 2;Maturity-onset diabetes of the young type 10;Diabetes mellitus, permanent neonatal 4 Supplemental_disease_name DISEASE_NAME:hyperproreninemia_familial HYPERPRORENINEMIA, FAMILIAL Supplemental_disease_name DISEASE_NAME:hyperreflexia_spastic_paraplegia_lower_limb_hyperreflexia_clonus Hyperreflexia;Spastic paraplegia;Lower limb hyperreflexia;Clonus Supplemental_disease_name DISEASE_NAME:hypersulfaturia Hypersulfaturia Supplemental_disease_name DISEASE_NAME:hypersulfaturia_nephrolithiasis_susceptibility_caused_by_slc26a1 Hypersulfaturia;Nephrolithiasis susceptibility caused by SLC26A1 Supplemental_disease_name DISEASE_NAME:hypertelorism_abnormal_digit_morphology_venous_malformation_dural_ectasia Hypertelorism;Abnormal digit morphology;Venous malformation;Dural ectasia Supplemental_disease_name DISEASE_NAME:hypertelorism_abnormality_of_the_hairline_intestinal_duplication_megalencephaly_autosomal_dominant_diaphragmatic_eventration Hypertelorism;Abnormality of the hairline;Intestinal duplication;Megalencephaly, autosomal dominant;Diaphragmatic eventration Supplemental_disease_name DISEASE_NAME:hypertelorism_and_tetralogy_of_fallot Hypertelorism and tetralogy of fallot Supplemental_disease_name DISEASE_NAME:hypertelorism_autism_with_high_cognitive_abilities Hypertelorism;Autism with high cognitive abilities Supplemental_disease_name DISEASE_NAME:hypertelorism_bifid_nasal_tip_opacification_of_the_corneal_stroma_clinodactyly_of_the_5th_finger_upslanted_palpebral_fissure Hypertelorism;Bifid nasal tip;Opacification of the corneal stroma;Clinodactyly of the 5th finger;Upslanted palpebral fissure Supplemental_disease_name DISEASE_NAME:hypertelorism_corpus_callosum_agenesis_of_clinodactyly_of_the_5th_finger_abnormal_facial_shape_low_set_ears Hypertelorism;Corpus callosum, agenesis of;Clinodactyly of the 5th finger;Abnormal facial shape;Low-set ears Supplemental_disease_name DISEASE_NAME:hypertelorism_depressed_nasal_ridge_wide_nose Hypertelorism;Depressed nasal ridge;Wide nose Supplemental_disease_name DISEASE_NAME:hypertelorism_dural_ectasia_abnormal_digit_morphology_venous_malformation Hypertelorism;Dural ectasia;Abnormal digit morphology;Venous malformation Supplemental_disease_name DISEASE_NAME:hypertelorism_short_stature_pedal_edema_downslanted_palpebral_fissures Hypertelorism;Short stature;Pedal edema;Downslanted palpebral fissures Supplemental_disease_name DISEASE_NAME:hypertension_diastolic_resistance_to HYPERTENSION, DIASTOLIC, RESISTANCE TO Supplemental_disease_name DISEASE_NAME:hypertension_early_onset_autosomal_dominant_with_exacerbation_in_pregnancy Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy Supplemental_disease_name DISEASE_NAME:hypertension_essential_susceptibility_to Hypertension, essential, susceptibility to Supplemental_disease_name DISEASE_NAME:hypertension_insulin_resistance_related_susceptibility_to HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:hypertension_salt_sensitive_essential_susceptibility_to Hypertension, salt-sensitive essential, susceptibility to Supplemental_disease_name DISEASE_NAME:hypertensive_disorder Hypertensive disorder Supplemental_disease_name DISEASE_NAME:hypertensive_disorder_myopia_hearing_impairment_proteinuria_hematuria Hypertensive disorder;Myopia;Hearing impairment;Proteinuria;Hematuria Supplemental_disease_name DISEASE_NAME:hypertensive_nephropathy Hypertensive nephropathy Supplemental_disease_name DISEASE_NAME:hypertensive_renal_injury Hypertensive renal injury Supplemental_disease_name DISEASE_NAME:hyperthyroidism_congenital_hypothyroidism Hyperthyroidism, Congenital hypothyroidism Supplemental_disease_name DISEASE_NAME:hyperthyroxinemia_dystransthyretinemic Hyperthyroxinemia, dystransthyretinemic Supplemental_disease_name DISEASE_NAME:hyperthyroxinemia_dystransthyretinemic_amyloidosis_hereditary_systemic_1_carpal_tunnel_syndrome Hyperthyroxinemia, dystransthyretinemic;Amyloidosis, hereditary systemic 1;Carpal tunnel syndrome Supplemental_disease_name DISEASE_NAME:hyperthyroxinemia_dystransthyretinemic_carpal_tunnel_syndrome_1_amyloidosis_hereditary_systemic_1 Hyperthyroxinemia, dystransthyretinemic;Carpal tunnel syndrome 1;Amyloidosis, hereditary systemic 1 Supplemental_disease_name DISEASE_NAME:hyperthyroxinemia_familial_dysalbuminemic Hyperthyroxinemia, familial dysalbuminemic Supplemental_disease_name DISEASE_NAME:hypertrichotic_osteochondrodysplasia Hypertrichotic osteochondrodysplasia Supplemental_disease_name DISEASE_NAME:hypertrichotic_osteochondrodysplasia_cantu_type_atrial_fibrillation_familial_12_dilated_cardiomyopathy_1o Hypertrichotic osteochondrodysplasia Cantu type;Atrial fibrillation, familial, 12;Dilated cardiomyopathy 1O Supplemental_disease_name DISEASE_NAME:hypertrichotic_osteochondrodysplasia_cantu_type_atrial_fibrillation_familial_12_dilated_cardiomyopathy_1o_intellectual_disability_and_myopathy_syndrome Hypertrichotic osteochondrodysplasia Cantu type;Atrial fibrillation, familial, 12;Dilated cardiomyopathy 1O;Intellectual disability and myopathy syndrome Supplemental_disease_name DISEASE_NAME:hypertrichotic_osteochondrodysplasia_cantu_type_dilated_cardiomyopathy_1o_atrial_fibrillation_familial_12_intellectual_disability_and_myopathy_syndrome Hypertrichotic osteochondrodysplasia Cantu type;Dilated cardiomyopathy 1O;Atrial fibrillation, familial, 12;Intellectual disability and myopathy syndrome Supplemental_disease_name DISEASE_NAME:hypertrichotic_osteochondrodysplasia_cantu_type_dilated_cardiomyopathy_1o_intellectual_disability_and_myopathy_syndrome_atrial_fibrillation_familial_12 Hypertrichotic osteochondrodysplasia Cantu type;Dilated cardiomyopathy 1O;Intellectual disability and myopathy syndrome;Atrial fibrillation, familial, 12 Supplemental_disease_name DISEASE_NAME:hypertrichotic_osteochondrodysplasia_cantu_type_intellectual_disability_and_myopathy_syndrome_atrial_fibrillation_familial_12_dilated_cardiomyopathy_1o Hypertrichotic osteochondrodysplasia Cantu type;Intellectual disability and myopathy syndrome;Atrial fibrillation, familial, 12;Dilated cardiomyopathy 1O Supplemental_disease_name DISEASE_NAME:hypertrichotic_osteochondrodysplasia_cantu_type_intellectual_disability_and_myopathy_syndrome_dilated_cardiomyopathy_1o_atrial_fibrillation_familial_12 Hypertrichotic osteochondrodysplasia Cantu type;Intellectual disability and myopathy syndrome;Dilated cardiomyopathy 1O;Atrial fibrillation, familial, 12 Supplemental_disease_name DISEASE_NAME:hypertriglyceridemia Hypertriglyceridemia Supplemental_disease_name DISEASE_NAME:hypertriglyceridemia_1 Hypertriglyceridemia 1 Supplemental_disease_name DISEASE_NAME:hypertriglyceridemia_1_familial_type_5_hyperlipoproteinemia Hypertriglyceridemia 1;Familial type 5 hyperlipoproteinemia Supplemental_disease_name DISEASE_NAME:hypertriglyceridemia_2 Hypertriglyceridemia 2 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathie hypertrophic cardiomyopathie Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_10_myopathy_myofibrillar_12_infantile_onset_with_cardiomyopathy Hypertrophic cardiomyopathy 10;Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_11_atrial_septal_defect_5_dilated_cardiomyopathy_1r Hypertrophic cardiomyopathy 11;Atrial septal defect 5;Dilated cardiomyopathy 1R Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_11_dilated_cardiomyopathy_1r_atrial_septal_defect_5 Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_12_dilated_cardiomyopathy_1m Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_13_dilated_cardiomyopathy_1z Hypertrophic cardiomyopathy 13;Dilated cardiomyopathy 1Z Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_14_atrial_septal_defect_3_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_sick_sinus_syndrome_3_susceptibility_to Hypertrophic cardiomyopathy 14;Atrial septal defect 3;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_14_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee Hypertrophic cardiomyopathy 14;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_1_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 1;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3 Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3 Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_atrial_septal_defect_3 Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_atrial_septal_defect_3 Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_15_dilated_cardiomyopathy_1w Hypertrophic cardiomyopathy 15;Dilated cardiomyopathy 1W Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_17_cardiomyopathy_dilated_2e Hypertrophic cardiomyopathy 17;Cardiomyopathy, dilated, 2E Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_18_dilated_cardiomyopathy_1p Hypertrophic cardiomyopathy 18;Dilated cardiomyopathy 1P Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_atrial_septal_defect_3_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to Hypertrophic cardiomyopathy 1;Atrial septal defect 3;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_atrial_septal_defect_3_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee Hypertrophic cardiomyopathy 1;Atrial septal defect 3;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14 Hypertrophic cardiomyopathy 1;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_atrial_septal_defect_3_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Atrial septal defect 3;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_14 Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3 Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3 Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3 Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 14;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1s Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1S Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1s_myopathy_myosin_storage_autosomal_recessive_myosin_storage_myopathy_myh7_related_skeletal_myopathy Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1S;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;MYH7-related skeletal myopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_distal_myopathy_tateyama_type_long_qt_syndrome_9_rippling_muscle_disease_2_elevated_circulating_creatine_kinase_activity Hypertrophic cardiomyopathy 1;Distal myopathy, Tateyama type;Long QT syndrome 9;Rippling muscle disease 2;Elevated circulating creatine kinase activity Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_elevated_circulating_creatine_kinase_activity_distal_myopathy_tateyama_type_long_qt_syndrome_9_rippling_muscle_disease_2 Hypertrophic cardiomyopathy 1;Elevated circulating creatine kinase activity;Distal myopathy, Tateyama type;Long QT syndrome 9;Rippling muscle disease 2 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee Hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy 14;Atrial septal defect 3;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3 Hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3_dilated_cardiomyopathy_1ee Hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Dilated cardiomyopathy 1EE Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_hypertrophic_cardiomyopathy_14_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_atrial_septal_defect_3 Hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_long_qt_syndrome_9_distal_myopathy_tateyama_type_rippling_muscle_disease_2_elevated_circulating_creatine_kinase_activity Hypertrophic cardiomyopathy 1;Long QT syndrome 9;Distal myopathy, Tateyama type;Rippling muscle disease 2;Elevated circulating creatine kinase activity Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_long_qt_syndrome_9_elevated_circulating_creatine_kinase_activity_rippling_muscle_disease_2_distal_myopathy_tateyama_type Hypertrophic cardiomyopathy 1;Long QT syndrome 9;Elevated circulating creatine kinase activity;Rippling muscle disease 2;Distal myopathy, Tateyama type Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_long_qt_syndrome_9_rippling_muscle_disease_2_distal_myopathy_tateyama_type_elevated_circulating_creatine_kinase_activity Hypertrophic cardiomyopathy 1;Long QT syndrome 9;Rippling muscle disease 2;Distal myopathy, Tateyama type;Elevated circulating creatine kinase activity Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_myh7_related_skeletal_myopathy_dilated_cardiomyopathy_1s Hypertrophic cardiomyopathy 1;MYH7-related skeletal myopathy;Dilated cardiomyopathy 1S Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_myopathy_myosin_storage_autosomal_recessive_dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy_myosin_storage_myopathy Hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy;Myosin storage myopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_myopathy_myosin_storage_autosomal_recessive_myosin_storage_myopathy_dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy Hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_myosin_storage_myopathy_dilated_cardiomyopathy_1s Hypertrophic cardiomyopathy 1;Myosin storage myopathy;Dilated cardiomyopathy 1S Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_myosin_storage_myopathy_dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy_myopathy_myosin_storage_autosomal_recessive Hypertrophic cardiomyopathy 1;Myosin storage myopathy;Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy;Myopathy, myosin storage, autosomal recessive Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_myosin_storage_myopathy_left_ventricular_noncompaction_primary_dilated_cardiomyopathy Hypertrophic cardiomyopathy 1;Myosin storage myopathy;Left ventricular noncompaction;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_myosin_storage_myopathy_myh7_related_skeletal_myopathy Hypertrophic cardiomyopathy 1;Myosin storage myopathy;MYH7-related skeletal myopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_myosin_storage_myopathy_myh7_related_skeletal_myopathy_dilated_cardiomyopathy_1s_myopathy_myosin_storage_autosomal_recessive Hypertrophic cardiomyopathy 1;Myosin storage myopathy;MYH7-related skeletal myopathy;Dilated cardiomyopathy 1S;Myopathy, myosin storage, autosomal recessive Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_myosin_storage_myopathy_myopathy_myosin_storage_autosomal_recessive_myh7_related_skeletal_myopathy_dilated_cardiomyopathy_1s Hypertrophic cardiomyopathy 1;Myosin storage myopathy;Myopathy, myosin storage, autosomal recessive;MYH7-related skeletal myopathy;Dilated cardiomyopathy 1S Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_rippling_muscle_disease_2_elevated_circulating_creatine_kinase_activity_distal_myopathy_tateyama_type_long_qt_syndrome_9 Hypertrophic cardiomyopathy 1;Rippling muscle disease 2;Elevated circulating creatine kinase activity;Distal myopathy, Tateyama type;Long QT syndrome 9 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_rippling_muscle_disease_2_elevated_circulating_creatine_kinase_activity_long_qt_syndrome_9_distal_myopathy_tateyama_type Hypertrophic cardiomyopathy 1;Rippling muscle disease 2;Elevated circulating creatine kinase activity;Long QT syndrome 9;Distal myopathy, Tateyama type Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14 Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3_hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3 Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_1_sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee_atrial_septal_defect_3 Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_20_dilated_cardiomyopathy_1cc Hypertrophic cardiomyopathy 20;Dilated cardiomyopathy 1CC Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_25_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2g Hypertrophic cardiomyopathy 25;Autosomal recessive limb-girdle muscular dystrophy type 2G Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_25_primary_familial_hypertrophic_cardiomyopathy Hypertrophic cardiomyopathy 25;Primary familial hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_cardiomyopathy_familial_restrictive_1_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Hypertrophic cardiomyopathy 26;Cardiomyopathy, familial restrictive, 1;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_dilated_cardiomyopathy_dominant_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5 Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_dilated_cardiomyopathy_dominant_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_dilated_cardiomyopathy_dominant_myofibrillar_myopathy_5 Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5 Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5_not_provided Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;not provided Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_not_provided_myofibrillar_myopathy_5 Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;not provided;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5_dilated_cardiomyopathy_dominant_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_not_provided Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;not provided Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5_not_provided_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;not provided;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_not_provided_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5 Hypertrophic cardiomyopathy 26;not provided;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_26_not_provided_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Hypertrophic cardiomyopathy 26;not provided;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_2_cardiomyopathy_familial_restrictive_3_dilated_cardiomyopathy_1d Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_2_dilated_cardiomyopathy_1d Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_2_dilated_cardiomyopathy_1d_cardiomyopathy_familial_restrictive_3 Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_3_dilated_cardiomyopathy_1y Hypertrophic cardiomyopathy 3;Dilated cardiomyopathy 1Y Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_4_left_ventricular_noncompaction_10 Hypertrophic cardiomyopathy 4;Left ventricular noncompaction 10 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_4_primary_dilated_cardiomyopathy_left_ventricular_noncompaction_1 Hypertrophic cardiomyopathy 4;Primary dilated cardiomyopathy;Left ventricular noncompaction 1 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_6_wolff_parkinson_white_pattern_lethal_congenital_glycogen_storage_disease_of_heart Hypertrophic cardiomyopathy 6;Wolff-Parkinson-White pattern;Lethal congenital glycogen storage disease of heart Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_7_cardiomyopathy_familial_restrictive_1_dilated_cardiomyopathy_1ff_dilated_cardiomyopathy_2a Hypertrophic cardiomyopathy 7;Cardiomyopathy, familial restrictive, 1;Dilated cardiomyopathy 1FF;Dilated cardiomyopathy 2A Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_1ff Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 1FF Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_1ff_cardiomyopathy_familial_restrictive_1_dilated_cardiomyopathy_2a Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 1FF;Cardiomyopathy, familial restrictive, 1;Dilated cardiomyopathy 2A Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_1ff_dilated_cardiomyopathy_2a_cardiomyopathy_familial_restrictive_1 Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 1FF;Dilated cardiomyopathy 2A;Cardiomyopathy, familial restrictive, 1 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_7_dilated_cardiomyopathy_2a_cardiomyopathy_familial_restrictive_1_dilated_cardiomyopathy_1ff Hypertrophic cardiomyopathy 7;Dilated cardiomyopathy 2A;Cardiomyopathy, familial restrictive, 1;Dilated cardiomyopathy 1FF Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_9_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_tibial_muscular_dystrophy_early_onset_myopathy_with_fatal_cardiomyopathy_dilated_cardiomyopathy_1g Hypertrophic cardiomyopathy 9;Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Early-onset myopathy with fatal cardiomyopathy;Dilated cardiomyopathy 1G Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g_early_onset_myopathy_with_fatal_cardiomyopathy Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G;Early-onset myopathy with fatal cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g_early_onset_myopathy_with_fatal_cardiomyopathy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G;Early-onset myopathy with fatal cardiomyopathy;Autosomal recessive limb-girdle muscular dystrophy type 2J Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g_myopathy_myofibrillar_9_with_early_respiratory_failure_tibial_muscular_dystrophy Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_9_early_onset_myopathy_with_fatal_cardiomyopathy_dilated_cardiomyopathy_1g Hypertrophic cardiomyopathy 9;Early-onset myopathy with fatal cardiomyopathy;Dilated cardiomyopathy 1G Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_9_myopathy_myofibrillar_9_with_early_respiratory_failure_dilated_cardiomyopathy_1g_tibial_muscular_dystrophy Hypertrophic cardiomyopathy 9;Myopathy, myofibrillar, 9, with early respiratory failure;Dilated cardiomyopathy 1G;Tibial muscular dystrophy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_arrhythmogenic_right_ventricular_cardiomyopathy Hypertrophic cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_atrial_fibrillation_cardiomyopathy_heart_failure Hypertrophic cardiomyopathy;Atrial fibrillation;Cardiomyopathy;Heart failure Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_cardiac_arrhythmia Hypertrophic cardiomyopathy;Cardiac arrhythmia Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_cardiomyopathy Hypertrophic cardiomyopathy;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_cardiomyopathy_long_qt_syndrome Hypertrophic cardiomyopathy;Cardiomyopathy;Long QT syndrome Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_chest_pain Hypertrophic cardiomyopathy;Chest pain Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_danon_disease Hypertrophic cardiomyopathy;Danon disease Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_dyspnea Hypertrophic cardiomyopathy;Dyspnea Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_fabry_disease Hypertrophic cardiomyopathy;Fabry disease Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_hypercalcemia_hypocalciuria_parathyroid_gland_adenoma Hypertrophic cardiomyopathy;Hypercalcemia;Hypocalciuria;Parathyroid gland adenoma Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_left_ventricular_noncompaction Hypertrophic cardiomyopathy;Left ventricular noncompaction Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_left_ventricular_noncompaction_cardiomyopathy_primary_dilated_cardiomyopathy Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_left_ventricular_noncompaction_restrictive_cardiomyopathy Hypertrophic cardiomyopathy;Left ventricular noncompaction;Restrictive cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_long_qt_syndrome Hypertrophic cardiomyopathy;Long QT syndrome Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_melas_syndrome_diabetes_deafness_syndrome_maternally_transmitted_leigh_syndrome_mtdna_mutation Hypertrophic cardiomyopathy;MELAS syndrome;Diabetes-deafness syndrome maternally transmitted;Leigh Syndrome (mtDNA mutation) Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_mitochondrial_respiratory_chain_defects_abnormality_of_mitochondrial_metabolism_inborn_mitochondrial_myopathy Hypertrophic cardiomyopathy;Mitochondrial respiratory chain defects;Abnormality of mitochondrial metabolism;Inborn mitochondrial myopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_primary_dilated_cardiomyopathy Hypertrophic cardiomyopathy;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_restrictive_cardiomyopathy Hypertrophic cardiomyopathy;Restrictive cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_supraventricular_tachycardia Hypertrophic cardiomyopathy;Supraventricular tachycardia Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathy_syncope Hypertrophic cardiomyopathy;Syncope Supplemental_disease_name DISEASE_NAME:hypertrophic_osteoarthropathy_primary_autosomal_dominant Hypertrophic osteoarthropathy, primary, autosomal dominant Supplemental_disease_name DISEASE_NAME:hypertrophic_osteoarthropathy_primary_autosomal_dominant_hypertrophic_osteoarthropathy_primary_autosomal_recessive_2 Hypertrophic osteoarthropathy, primary, autosomal dominant;Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Supplemental_disease_name DISEASE_NAME:hypertrophic_osteoarthropathy_primary_autosomal_recessive_1 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Supplemental_disease_name DISEASE_NAME:hypertrophic_osteoarthropathy_primary_autosomal_recessive_1_isolated_congenital_digital_clubbing Hypertrophic osteoarthropathy, primary, autosomal recessive, 1;Isolated congenital digital clubbing Supplemental_disease_name DISEASE_NAME:hypertrophic_osteoarthropathy_primary_autosomal_recessive_2 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Supplemental_disease_name DISEASE_NAME:hypertrophic_osteoarthropathy_primary_autosomal_recessive_2_hypertrophic_osteoarthropathy_primary_autosomal_dominant Hypertrophic osteoarthropathy, primary, autosomal recessive, 2;Hypertrophic osteoarthropathy, primary, autosomal dominant Supplemental_disease_name DISEASE_NAME:hypertryptophanemia Hypertryptophanemia Supplemental_disease_name DISEASE_NAME:hyperuricemia_pulmonary_hypertension_renal_failure_alkalosis_syndrome Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Supplemental_disease_name DISEASE_NAME:hyperuricemic_nephropathy_familial_juvenile_type_3 Hyperuricemic nephropathy, familial juvenile type 3 Supplemental_disease_name DISEASE_NAME:hyperuricemic_nephropathy_familial_juvenile_type_4 Hyperuricemic nephropathy, familial juvenile type 4 Supplemental_disease_name DISEASE_NAME:hyperuricemic_nephropathy_familial_juvenile_type_4_immunodeficiency_common_variable_15_neutropenia_severe_congenital_11_autosomal_dominant Hyperuricemic nephropathy, familial juvenile type 4;Immunodeficiency, common variable, 15;Neutropenia, severe congenital, 11, autosomal dominant Supplemental_disease_name DISEASE_NAME:hyperzincemia_and_hypercalprotectinemia Hyperzincemia and hypercalprotectinemia Supplemental_disease_name DISEASE_NAME:hyperzincemia_and_hypercalprotectinemia_pyogenic_arthritis_pyoderma_gangrenosum_acne_syndrome Hyperzincemia and hypercalprotectinemia;Pyogenic arthritis-pyoderma gangrenosum-acne syndrome Supplemental_disease_name DISEASE_NAME:hypoaldosteronism_congenital Hypoaldosteronism, congenital Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_1 Hypoalphalipoproteinemia, primary, 1 Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_1_tangier_disease Hypoalphalipoproteinemia, primary, 1;Tangier disease Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2 Hypoalphalipoproteinemia, primary, 2 Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_familial_amyloid_polyneuropathy_iowa_type_hypoalphalipoproteinemia_primary_2_intermediate Hypoalphalipoproteinemia, primary, 2;Familial amyloid polyneuropathy, Iowa type;Hypoalphalipoproteinemia, primary, 2, intermediate Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_familial_visceral_amyloidosis_ostertag_type_hypoalphalipoproteinemia_primary_2_intermediate Hypoalphalipoproteinemia, primary, 2;Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2, intermediate Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_hypoalphalipoproteinemia_primary_2_intermediate_familial_amyloid_polyneuropathy_iowa_type Hypoalphalipoproteinemia, primary, 2;Hypoalphalipoproteinemia, primary, 2, intermediate;Familial amyloid polyneuropathy, Iowa type Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_hypoalphalipoproteinemia_primary_2_intermediate_familial_visceral_amyloidosis_ostertag_type Hypoalphalipoproteinemia, primary, 2;Hypoalphalipoproteinemia, primary, 2, intermediate;Familial visceral amyloidosis, Ostertag type Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_intermediate Hypoalphalipoproteinemia, primary, 2, intermediate Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_intermediate_familial_amyloid_polyneuropathy_iowa_type_hypoalphalipoproteinemia_primary_2 Hypoalphalipoproteinemia, primary, 2, intermediate;Familial amyloid polyneuropathy, Iowa type;Hypoalphalipoproteinemia, primary, 2 Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_intermediate_familial_visceral_amyloidosis_ostertag_type_hypoalphalipoproteinemia_primary_2 Hypoalphalipoproteinemia, primary, 2, intermediate;Familial visceral amyloidosis, Ostertag type;Hypoalphalipoproteinemia, primary, 2 Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_intermediate_hypoalphalipoproteinemia_primary_2_familial_amyloid_polyneuropathy_iowa_type Hypoalphalipoproteinemia, primary, 2, intermediate;Hypoalphalipoproteinemia, primary, 2;Familial amyloid polyneuropathy, Iowa type Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_intermediate_hypoalphalipoproteinemia_primary_2_familial_visceral_amyloidosis_ostertag_type Hypoalphalipoproteinemia, primary, 2, intermediate;Hypoalphalipoproteinemia, primary, 2;Familial visceral amyloidosis, Ostertag type Supplemental_disease_name DISEASE_NAME:hypocalcemia Hypocalcemia Supplemental_disease_name DISEASE_NAME:hypocalciuric_hypercalcemia Hypocalciuric hypercalcemia Supplemental_disease_name DISEASE_NAME:hypoceruloplasminemia Hypoceruloplasminemia Supplemental_disease_name DISEASE_NAME:hypocholesterolemia Hypocholesterolemia Supplemental_disease_name DISEASE_NAME:hypochondroplasia_thanatophoric_dysplasia_type_1_crouzon_syndrome_acanthosis_nigricans_syndrome_achondroplasia_muenke_syndrome Hypochondroplasia;Thanatophoric dysplasia type 1;Crouzon syndrome-acanthosis nigricans syndrome;Achondroplasia;Muenke syndrome Supplemental_disease_name DISEASE_NAME:hypodysfibrinogenemia Hypodysfibrinogenemia Supplemental_disease_name DISEASE_NAME:hypofibrinogenemia Hypofibrinogenemia Supplemental_disease_name DISEASE_NAME:hypogammaglobulinemia_x_linked Hypogammaglobulinemia, X-linked Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism Hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_10_without_anosmia HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_14_with_anosmia Hypogonadotropic hypogonadism 14 with anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_14_with_or_without_anosmia_hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic hypogonadism 14 with or without anosmia;Hypogonadotropic hypogonadism 7 with or without anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_14_with_or_without_anosmia_hypogonadotropic_hypogonadism_7_with_or_without_anosmia_intellectual_developmental_disorder_autosomal_recessive_78 Hypogonadotropic hypogonadism 14 with or without anosmia;Hypogonadotropic hypogonadism 7 with or without anosmia;Intellectual developmental disorder, autosomal recessive 78 Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_14_with_or_without_anosmia_intellectual_developmental_disorder_autosomal_recessive_78 Hypogonadotropic hypogonadism 14 with or without anosmia;Intellectual developmental disorder, autosomal recessive 78 Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_15_with_anosmia Hypogonadotropic hypogonadism 15 with anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_15_with_or_without_anosmia_susceptibility_to HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_17_with_or_without_anosmia_hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypogonadotropic hypogonadism 17 with or without anosmia;Hypogonadotropic hypogonadism 7 with or without anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_18_with_anosmia Hypogonadotropic hypogonadism 18 with anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_18_with_anosmia_susceptibility_to HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_20_without_anosmia Hypogonadotropic hypogonadism 20 without anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_21_with_anosmia_susceptibility_to HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_22_with_anosmia Hypogonadotropic hypogonadism 22 with anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_25_with_anosmia Hypogonadotropic hypogonadism 25 with anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_26_with_anosmia HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_26_with_or_without_anosmia Hypogonadotropic hypogonadism 26 with or without anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_26_with_or_without_anosmia_tcf12_related_craniosynostosis Hypogonadotropic hypogonadism 26 with or without anosmia;TCF12-related craniosynostosis Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_27_without_anosmia Hypogonadotropic hypogonadism 27 without anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_2_with_anosmia Hypogonadotropic hypogonadism 2 with anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_2_with_or_without_anosmia_pfeiffer_syndrome Hypogonadotropic hypogonadism 2 with or without anosmia;Pfeiffer syndrome Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_2_with_or_without_anosmia_trigonocephaly_1 Hypogonadotropic hypogonadism 2 with or without anosmia;Trigonocephaly 1 Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_3_without_anosmia HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_5_with_or_without_anosmia_charge_syndrome Hypogonadotropic hypogonadism 5 with or without anosmia;CHARGE syndrome Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_5_without_anosmia HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_7_with_or_without_anosmia_charge_syndrome Hypogonadotropic hypogonadism 7 with or without anosmia;CHARGE syndrome Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_7_with_or_without_anosmia_dysarthria_cerebellar_ataxia Hypogonadotropic hypogonadism 7 with or without anosmia;Dysarthria;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_7_with_or_without_anosmia_hypogonadotropic_hypogonadism_22_with_or_without_anosmia Hypogonadotropic hypogonadism 7 with or without anosmia;Hypogonadotropic hypogonadism 22 with or without anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_7_with_or_without_anosmia_intellectual_developmental_disorder_autosomal_recessive_78_hypogonadotropic_hypogonadism_14_with_or_without_anosmia Hypogonadotropic hypogonadism 7 with or without anosmia;Intellectual developmental disorder, autosomal recessive 78;Hypogonadotropic hypogonadism 14 with or without anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_7_with_or_without_anosmia_leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Hypogonadotropic hypogonadism 7 with or without anosmia;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_8_with_or_without_anosmia_central_precocious_puberty_1 Hypogonadotropic hypogonadism 8 with or without anosmia;Central precocious puberty 1 Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_8_without_anosmia Hypogonadotropic hypogonadism 8 without anosmia Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_absence_of_pubertal_development Hypogonadotropic hypogonadism;Absence of pubertal development Supplemental_disease_name DISEASE_NAME:hypohaptoglobinemia Hypohaptoglobinemia Supplemental_disease_name DISEASE_NAME:hypohidrosis_enamel_hypoplasia_palmoplantar_keratoderma_intellectual_disability_syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:hypohidrosis_enamel_hypoplasia_palmoplantar_keratoderma_intellectual_disability_syndrome_cog6_congenital_disorder_of_glycosylation Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome;COG6-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:hypohidrosis_intellectual_disability Hypohidrosis;Intellectual disability Supplemental_disease_name DISEASE_NAME:hypohidrotic_ectodermal_dysplasia_dominant Hypohidrotic Ectodermal Dysplasia, Dominant Supplemental_disease_name DISEASE_NAME:hypohidrotic_x_linked_ectodermal_dysplasia Hypohidrotic X-linked ectodermal dysplasia Supplemental_disease_name DISEASE_NAME:hypohidrotic_x_linked_ectodermal_dysplasia_tooth_agenesis_selective_x_linked_1 Hypohidrotic X-linked ectodermal dysplasia;Tooth agenesis, selective, X-linked, 1 Supplemental_disease_name DISEASE_NAME:hypoinsulinemia Hypoinsulinemia Supplemental_disease_name DISEASE_NAME:hypoinsulinemic_hypoglycemia_and_body_hemihypertrophy_type_2_diabetes_mellitus Hypoinsulinemic hypoglycemia and body hemihypertrophy;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:hypokalemia_hypomagnesemia Hypokalemia;Hypomagnesemia Supplemental_disease_name DISEASE_NAME:hypokalemia_hypomagnesemia_chronic_kidney_disease Hypokalemia;Hypomagnesemia;Chronic kidney disease Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1 Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_congenital_myopathy_18_malignant_hyperthermia_susceptibility_to_5_thyrotoxic_periodic_paralysis_susceptibility_to_1 Hypokalemic periodic paralysis, type 1;Congenital myopathy 18;Malignant hyperthermia, susceptibility to, 5;Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_congenital_myopathy_18_thyrotoxic_periodic_paralysis_susceptibility_to_1_malignant_hyperthermia_susceptibility_to_5 Hypokalemic periodic paralysis, type 1;Congenital myopathy 18;Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5 Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5_congenital_myopathy_18_thyrotoxic_periodic_paralysis_susceptibility_to_1 Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5;Congenital myopathy 18;Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5_thyrotoxic_periodic_paralysis_susceptibility_to_1 Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5;Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5_thyrotoxic_periodic_paralysis_susceptibility_to_1_congenital_myopathy_18 Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5;Thyrotoxic periodic paralysis, susceptibility to, 1;Congenital myopathy 18 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_thyrotoxic_periodic_paralysis_susceptibility_to_1 Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_thyrotoxic_periodic_paralysis_susceptibility_to_1_congenital_myopathy_18_malignant_hyperthermia_susceptibility_to_5 Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1;Congenital myopathy 18;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_thyrotoxic_periodic_paralysis_susceptibility_to_1_malignant_hyperthermia_susceptibility_to_5 Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1_thyrotoxic_periodic_paralysis_susceptibility_to_1_malignant_hyperthermia_susceptibility_to_5_congenital_myopathy_18 Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia, susceptibility to, 5;Congenital myopathy 18 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_2 Hypokalemic periodic paralysis, type 2 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_2_hyperkalemic_periodic_paralysis Hypokalemic periodic paralysis, type 2;Hyperkalemic periodic paralysis Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_2_paramyotonia_congenita_of_von_eulenburg_hyperkalemic_periodic_paralysis_potassium_aggravated_myotonia Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of Von Eulenburg;Hyperkalemic periodic paralysis;Potassium-aggravated myotonia Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_2_potassium_aggravated_myotonia_hyperkalemic_periodic_paralysis_paramyotonia_congenita_of_von_eulenburg Hypokalemic periodic paralysis, type 2;Potassium-aggravated myotonia;Hyperkalemic periodic paralysis;Paramyotonia congenita of Von Eulenburg Supplemental_disease_name DISEASE_NAME:hypokalemic_tubulopathy_and_deafness Hypokalemic tubulopathy and deafness Supplemental_disease_name DISEASE_NAME:hypokinetic_non_dilated_cardiomyopathy Hypokinetic non-dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypomagnesemia Hypomagnesemia Supplemental_disease_name DISEASE_NAME:hypomagnesemia_7_renal_with_dilated_cardiomyopathy HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY Supplemental_disease_name DISEASE_NAME:hypomagnesemia_7_renal_with_or_without_dilated_cardiomyopathy Hypomagnesemia 7, renal, with or without dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypomagnesemia_7_renal_without_dilated_cardiomyopathy HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY Supplemental_disease_name DISEASE_NAME:hypomagnesemia_hypertension_and_hypercholesterolemia_mitochondrial Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial Supplemental_disease_name DISEASE_NAME:hypomagnesemia_seizures_and_intellectual_disability_1 Hypomagnesemia, seizures, and intellectual disability 1 Supplemental_disease_name DISEASE_NAME:hypomagnesemia_seizures_and_intellectual_disability_1_renal_hypomagnesemia_6 Hypomagnesemia, seizures, and intellectual disability 1;Renal hypomagnesemia 6 Supplemental_disease_name DISEASE_NAME:hypomagnesemia_seizures_and_intellectual_disability_2 Hypomagnesemia, seizures, and intellectual disability 2 Supplemental_disease_name DISEASE_NAME:hypomagnesemia_seizures_and_intellectual_disability_2_charcot_marie_tooth_disease_axonal_type_2dd Hypomagnesemia, seizures, and intellectual disability 2;Charcot-Marie-tooth disease, axonal, type 2DD Supplemental_disease_name DISEASE_NAME:hypomaturation_hypoplastic_amelogenesis_imperfecta_with_taurodontism Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_11_treacher_collins_syndrome_3 Hypomyelinating leukodystrophy 11;Treacher Collins syndrome 3 Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_12_dystonia_32 Hypomyelinating leukodystrophy 12;Dystonia 32 Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_2_hereditary_spastic_paraplegia_44 Hypomyelinating leukodystrophy 2;Hereditary spastic paraplegia 44 Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_2_hereditary_spastic_paraplegia_44_lymphatic_malformation_3 Hypomyelinating leukodystrophy 2;Hereditary spastic paraplegia 44;Lymphatic malformation 3 Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_2_lymphatic_malformation_3_hereditary_spastic_paraplegia_44 Hypomyelinating leukodystrophy 2;Lymphatic malformation 3;Hereditary spastic paraplegia 44 Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_4_hereditary_spastic_paraplegia_13 Hypomyelinating leukodystrophy 4;Hereditary spastic paraplegia 13 Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_6_torsion_dystonia_4 Hypomyelinating leukodystrophy 6;Torsion dystonia 4 Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_charcot_marie_tooth_disease_demyelinating_iia_1i Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, IIA 1I Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_hypogonadotropic_hypogonadism_7_with_or_without_anosmia Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Hypogonadotropic hypogonadism 7 with or without anosmia Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_neonatal_pseudo_hydrocephalic_progeroid_syndrome Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Neonatal pseudo-hydrocephalic progeroid syndrome Supplemental_disease_name DISEASE_NAME:hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_viss_syndrome Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism;VISS syndrome Supplemental_disease_name DISEASE_NAME:hypomyelination_and_congenital_cataract Hypomyelination and congenital cataract Supplemental_disease_name DISEASE_NAME:hypomyelination_hypogonadotropic_hypogonadism_hypodontia_syndrome_neonatal_pseudo_hydrocephalic_progeroid_syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome;Neonatal pseudo-hydrocephalic progeroid syndrome Supplemental_disease_name DISEASE_NAME:hypomyelination_with_brain_stem_and_spinal_cord_involvement_and_leg_spasticity Hypomyelination with brain stem and spinal cord involvement and leg spasticity Supplemental_disease_name DISEASE_NAME:hypoparathyroidism_familial_isolated_1 Hypoparathyroidism, familial isolated 1 Supplemental_disease_name DISEASE_NAME:hypoparathyroidism_familial_isolated_2 Hypoparathyroidism, familial isolated, 2 Supplemental_disease_name DISEASE_NAME:hypoparathyroidism_familial_isolated_2_hyperparathyroidism_4 Hypoparathyroidism, familial isolated, 2;Hyperparathyroidism 4 Supplemental_disease_name DISEASE_NAME:hypoparathyroidism_retardation_dysmorphism_syndrome_autosomal_recessive_kenny_caffey_syndrome_encephalopathy_progressive_with_amyotrophy_and_optic_atrophy Hypoparathyroidism-retardation-dysmorphism syndrome;Autosomal recessive Kenny-Caffey syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy Supplemental_disease_name DISEASE_NAME:hypoparathyroidism_retardation_dysmorphism_syndrome_encephalopathy_progressive_with_amyotrophy_and_optic_atrophy_autosomal_recessive_kenny_caffey_syndrome Hypoparathyroidism-retardation-dysmorphism syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy;Autosomal recessive Kenny-Caffey syndrome Supplemental_disease_name DISEASE_NAME:hypophosphataemia_or_rickets Hypophosphataemia or rickets Supplemental_disease_name DISEASE_NAME:hypophosphataemia_x_linked Hypophosphataemia, X-linked Supplemental_disease_name DISEASE_NAME:hypophosphatasia_childhood_hypophosphatasia_infantile_hypophosphatasia_adult_hypophosphatasia Hypophosphatasia;Childhood hypophosphatasia;Infantile hypophosphatasia;Adult hypophosphatasia Supplemental_disease_name DISEASE_NAME:hypophosphatemia_kidney_stone Hypophosphatemia;Kidney stone Supplemental_disease_name DISEASE_NAME:hypophosphatemic_nephrolithiasis_osteoporosis_1_fanconi_renotubular_syndrome_2_hypercalcemia_infantile_2 Hypophosphatemic nephrolithiasis/osteoporosis 1;Fanconi renotubular syndrome 2;Hypercalcemia, infantile, 2 Supplemental_disease_name DISEASE_NAME:hypophosphatemic_nephrolithiasis_osteoporosis_1_hypercalcemia_infantile_2_fanconi_renotubular_syndrome_2 Hypophosphatemic nephrolithiasis/osteoporosis 1;Hypercalcemia, infantile, 2;Fanconi renotubular syndrome 2 Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets Hypophosphatemic rickets Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_and_hyperparathyroidism Hypophosphatemic rickets and hyperparathyroidism Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_autosomal_recessive_1 Hypophosphatemic rickets, autosomal recessive, 1 Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_autosomal_recessive_2 Hypophosphatemic rickets, autosomal recessive, 2 Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_autosomal_recessive_2_arterial_calcification_generalized_of_infancy_1 Hypophosphatemic rickets, autosomal recessive, 2;Arterial calcification, generalized, of infancy, 1 Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_lower_limb_pain_bowing_of_the_legs Hypophosphatemic rickets;Lower limb pain;Bowing of the legs Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_x_linked_recessive Hypophosphatemic rickets, X-linked recessive Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_x_linked_recessive_dent_disease_type_1_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_x_linked_recessive_nephrolithiasis_with_renal_failure Hypophosphatemic rickets, X-linked recessive;Dent disease type 1;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;X-linked recessive nephrolithiasis with renal failure Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_x_linked_recessive_dent_disease_type_1_x_linked_recessive_nephrolithiasis_with_renal_failure_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis Hypophosphatemic rickets, X-linked recessive;Dent disease type 1;X-linked recessive nephrolithiasis with renal failure;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_x_linked_recessive_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_dent_disease_type_1_x_linked_recessive_nephrolithiasis_with_renal_failure Hypophosphatemic rickets, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;X-linked recessive nephrolithiasis with renal failure Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_x_linked_recessive_x_linked_recessive_nephrolithiasis_with_renal_failure_dent_disease_type_1_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure;Dent disease type 1;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Supplemental_disease_name DISEASE_NAME:hypopigmentation_of_hair_hypopigmentation_of_the_skin_iris_transillumination_defect_horizontal_nystagmus Hypopigmentation of hair;Hypopigmentation of the skin;Iris transillumination defect;Horizontal nystagmus Supplemental_disease_name DISEASE_NAME:hypopigmentation_organomegaly_and_delayed_myelination_and_development Hypopigmentation, organomegaly, and delayed myelination and development Supplemental_disease_name DISEASE_NAME:hypopigmentation_organomegaly_and_delayed_myelination_and_development_autosomal_dominant_osteopetrosis_2_autosomal_recessive_osteopetrosis_4 Hypopigmentation, organomegaly, and delayed myelination and development;Autosomal dominant osteopetrosis 2;Autosomal recessive osteopetrosis 4 Supplemental_disease_name DISEASE_NAME:hypopigmentation_organomegaly_and_delayed_myelination_and_development_autosomal_recessive_osteopetrosis_4_autosomal_dominant_osteopetrosis_2 Hypopigmentation, organomegaly, and delayed myelination and development;Autosomal recessive osteopetrosis 4;Autosomal dominant osteopetrosis 2 Supplemental_disease_name DISEASE_NAME:hypopigmentation_punctate_palmoplantar_keratoderma_syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Supplemental_disease_name DISEASE_NAME:hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_arterial_calcification_generalized_of_infancy_1_hypophosphatemic_rickets_autosomal_recessive_2_inherited_obesity_type_2_diabetes_mellitus Hypopigmentation-punctate palmoplantar keratoderma syndrome;Arterial calcification, generalized, of infancy, 1;Hypophosphatemic rickets, autosomal recessive, 2;Inherited obesity;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_arterial_calcification_generalized_of_infancy_1_hypophosphatemic_rickets_autosomal_recessive_2_obesity_type_2_diabetes_mellitus Hypopigmentation-punctate palmoplantar keratoderma syndrome;Arterial calcification, generalized, of infancy, 1;Hypophosphatemic rickets, autosomal recessive, 2;Obesity;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_arterial_calcification_generalized_of_infancy_1_inherited_obesity_hypophosphatemic_rickets_autosomal_recessive_2_type_2_diabetes_mellitus Hypopigmentation-punctate palmoplantar keratoderma syndrome;Arterial calcification, generalized, of infancy, 1;Inherited obesity;Hypophosphatemic rickets, autosomal recessive, 2;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_arterial_calcification_generalized_of_infancy_1_inherited_obesity_type_2_diabetes_mellitus_hypophosphatemic_rickets_autosomal_recessive_2 Hypopigmentation-punctate palmoplantar keratoderma syndrome;Arterial calcification, generalized, of infancy, 1;Inherited obesity;Type 2 diabetes mellitus;Hypophosphatemic rickets, autosomal recessive, 2 Supplemental_disease_name DISEASE_NAME:hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_arterial_calcification_generalized_of_infancy_1_type_2_diabetes_mellitus_hypophosphatemic_rickets_autosomal_recessive_2_inherited_obesity Hypopigmentation-punctate palmoplantar keratoderma syndrome;Arterial calcification, generalized, of infancy, 1;Type 2 diabetes mellitus;Hypophosphatemic rickets, autosomal recessive, 2;Inherited obesity Supplemental_disease_name DISEASE_NAME:hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_hypophosphatemic_rickets_autosomal_recessive_2_arterial_calcification_generalized_of_infancy_1_inherited_obesity_type_2_diabetes_mellitus Hypopigmentation-punctate palmoplantar keratoderma syndrome;Hypophosphatemic rickets, autosomal recessive, 2;Arterial calcification, generalized, of infancy, 1;Inherited obesity;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_hypophosphatemic_rickets_autosomal_recessive_2_type_2_diabetes_mellitus_arterial_calcification_generalized_of_infancy_1_inherited_obesity Hypopigmentation-punctate palmoplantar keratoderma syndrome;Hypophosphatemic rickets, autosomal recessive, 2;Type 2 diabetes mellitus;Arterial calcification, generalized, of infancy, 1;Inherited obesity Supplemental_disease_name DISEASE_NAME:hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_hypophosphatemic_rickets_autosomal_recessive_2_type_2_diabetes_mellitus_inherited_obesity_arterial_calcification_generalized_of_infancy_1 Hypopigmentation-punctate palmoplantar keratoderma syndrome;Hypophosphatemic rickets, autosomal recessive, 2;Type 2 diabetes mellitus;Inherited obesity;Arterial calcification, generalized, of infancy, 1 Supplemental_disease_name DISEASE_NAME:hypoplasia_of_anterior_or_entire_pituitary_gland_frequent Hypoplasia of anterior or entire pituitary gland (frequent) Supplemental_disease_name DISEASE_NAME:hypoplasia_of_scrotum Hypoplasia of scrotum Supplemental_disease_name DISEASE_NAME:hypoplasia_of_the_iris Hypoplasia of the iris Supplemental_disease_name DISEASE_NAME:hypoplastic_aortic_arch_polycystic_kidney_disease Hypoplastic aortic arch;Polycystic kidney disease Supplemental_disease_name DISEASE_NAME:hypoplastic_enamel_onycholysis_hypohidrosis_syndrome_tooth_agenesis_selective_1_orofacial_cleft_5 Hypoplastic enamel-onycholysis-hypohidrosis syndrome;Tooth agenesis, selective, 1;Orofacial cleft 5 Supplemental_disease_name DISEASE_NAME:hypoplastic_femurs_and_pelvis Hypoplastic femurs and pelvis Supplemental_disease_name DISEASE_NAME:hypoplastic_left_heart_syndrome_1 Hypoplastic left heart syndrome 1 Supplemental_disease_name DISEASE_NAME:hypoplastic_left_heart_syndrome_1_aortic_valve_atresia_mitral_atresia_disorder Hypoplastic left heart syndrome 1;Aortic valve atresia;Mitral atresia disorder Supplemental_disease_name DISEASE_NAME:hypoplastic_left_heart_syndrome_2 Hypoplastic left heart syndrome 2 Supplemental_disease_name DISEASE_NAME:hypoplastic_pancreas_intestinal_atresia_hypoplastic_gallbalder_syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Supplemental_disease_name DISEASE_NAME:hypoprebetalipoproteinemia_acanthocytosis_retinitis_pigmentosa_and_pallidal_degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Supplemental_disease_name DISEASE_NAME:hypoprebetalipoproteinemia_acanthocytosis_retinitis_pigmentosa_and_pallidal_degeneration_pigmentary_pallidal_degeneration Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;Pigmentary pallidal degeneration Supplemental_disease_name DISEASE_NAME:hypoproteinemia_hypercatabolic Hypoproteinemia, hypercatabolic Supplemental_disease_name DISEASE_NAME:hypoproteinemia_hypercatabolic_amyloidosis_hereditary_systemic_6 Hypoproteinemia, hypercatabolic;Amyloidosis, hereditary systemic 6 Supplemental_disease_name DISEASE_NAME:hypoproteinemia_hypercatabolic_familial_visceral_amyloidosis_ostertag_type Hypoproteinemia, hypercatabolic;Familial visceral amyloidosis, Ostertag type Supplemental_disease_name DISEASE_NAME:hypospadias_1_x_linked Hypospadias 1, X-linked Supplemental_disease_name DISEASE_NAME:hypospadias_1_x_linked_kennedy_disease_androgen_resistance_syndrome_partial_androgen_insensitivity_syndrome_prostate_cancer Hypospadias 1, X-linked;Kennedy disease;Androgen resistance syndrome;Partial androgen insensitivity syndrome;Prostate cancer Supplemental_disease_name DISEASE_NAME:hypospadias_1_x_linked_kennedy_disease_androgen_resistance_syndrome_prostate_cancer_partial_androgen_insensitivity_syndrome Hypospadias 1, X-linked;Kennedy disease;Androgen resistance syndrome;Prostate cancer;Partial androgen insensitivity syndrome Supplemental_disease_name DISEASE_NAME:hypospadias_2_x_linked Hypospadias 2, X-linked Supplemental_disease_name DISEASE_NAME:hypospadias_macrocephaly_global_developmental_delay Hypospadias;Macrocephaly;Global developmental delay Supplemental_disease_name DISEASE_NAME:hypospermatogenesis_nonobstructive_y_linked Hypospermatogenesis, nonobstructive, Y-linked Supplemental_disease_name DISEASE_NAME:hypotaurinemic_retinal_degeneration_and_cardiomyopathy Hypotaurinemic retinal degeneration and cardiomyopathy Supplemental_disease_name DISEASE_NAME:hypotelorism_generalized_hypotonia_intellectual_disability Hypotelorism;Generalized hypotonia;Intellectual disability Supplemental_disease_name DISEASE_NAME:hypotension Hypotension Supplemental_disease_name DISEASE_NAME:hypothalamic_hypothyroidism Hypothalamic hypothyroidism Supplemental_disease_name DISEASE_NAME:hypothyroidism_congenital_nongoitrous_2 Hypothyroidism, congenital, nongoitrous, 2 Supplemental_disease_name DISEASE_NAME:hypothyroidism_congenital_nongoitrous_5 Hypothyroidism, congenital, nongoitrous, 5 Supplemental_disease_name DISEASE_NAME:hypothyroidism_congenital_nongoitrous_7 Hypothyroidism, congenital, nongoitrous, 7 Supplemental_disease_name DISEASE_NAME:hypothyroidism_congenital_nongoitrous_8 Hypothyroidism, congenital, nongoitrous, 8 Supplemental_disease_name DISEASE_NAME:hypothyroidism_congenital_nongoitrous_9 Hypothyroidism, congenital, nongoitrous, 9 Supplemental_disease_name DISEASE_NAME:hypothyroidism_due_to_tsh_receptor_mutations Hypothyroidism due to TSH receptor mutations Supplemental_disease_name DISEASE_NAME:hypothyroidism_due_to_tsh_receptor_mutations_familial_gestational_hyperthyroidism_familial_hyperthyroidism_due_to_mutations_in_tsh_receptor Hypothyroidism due to TSH receptor mutations;Familial gestational hyperthyroidism;Familial hyperthyroidism due to mutations in TSH receptor Supplemental_disease_name DISEASE_NAME:hypothyroidism_due_to_tsh_receptor_mutations_familial_hyperthyroidism_due_to_mutations_in_tsh_receptor_familial_gestational_hyperthyroidism Hypothyroidism due to TSH receptor mutations;Familial hyperthyroidism due to mutations in TSH receptor;Familial gestational hyperthyroidism Supplemental_disease_name DISEASE_NAME:hypotonia Hypotonia Supplemental_disease_name DISEASE_NAME:hypotonia_ataxia_developmental_delay_and_tooth_enamel_defect_syndrome Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome Supplemental_disease_name DISEASE_NAME:hypotonia_ataxia_developmental_delay_and_tooth_enamel_defect_syndrome_4p_partial_monosomy_syndrome Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome;4p partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:hypotonia_delayed_myelination_global_developmental_delay Hypotonia;Delayed myelination;Global developmental delay Supplemental_disease_name DISEASE_NAME:hypotonia_delayed_speech_and_language_development_sleep_apnea Hypotonia;Delayed speech and language development;Sleep apnea Supplemental_disease_name DISEASE_NAME:hypotonia_failure_to_thrive_microcephaly_syndrome Hypotonia-failure to thrive-microcephaly syndrome Supplemental_disease_name DISEASE_NAME:hypotonia_global_developmental_delay Hypotonia;Global developmental delay Supplemental_disease_name DISEASE_NAME:hypotonia_hearing_impairment_abnormal_optic_nerve_morphology_abnormal_cardiovascular_system_morphology_failure_to_thrive Hypotonia;Hearing impairment;Abnormal optic nerve morphology;Abnormal cardiovascular system morphology;Failure to thrive Supplemental_disease_name DISEASE_NAME:hypotonia_hypoventilation_impaired_intellectual_development_dysautonomia_epilepsy_and_eye_abnormalities Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities Supplemental_disease_name DISEASE_NAME:hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies Hypotonia, infantile, with psychomotor retardation and characteristic facies Supplemental_disease_name DISEASE_NAME:hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_1 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Supplemental_disease_name DISEASE_NAME:hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_1_congenital_contractures_of_the_limbs_and_face_hypotonia_and_developmental_delay Hypotonia, infantile, with psychomotor retardation and characteristic facies 1;Congenital contractures of the limbs and face, hypotonia, and developmental delay Supplemental_disease_name DISEASE_NAME:hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_2 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Supplemental_disease_name DISEASE_NAME:hypotonia_joint_hypermobility_pes_valgus_thoracolumbar_scoliosis_congenital_muscular_dystrophy Hypotonia;Joint hypermobility;Pes valgus;Thoracolumbar scoliosis;Congenital muscular dystrophy Supplemental_disease_name DISEASE_NAME:hypotonia_microcephaly_seizure_neurodevelopmental_delay Hypotonia;Microcephaly;Seizure;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:hypotonia_mild_intellectual_disability_autistic_behavior Hypotonia;Mild intellectual disability;Autistic behavior Supplemental_disease_name DISEASE_NAME:hypotonia_neurodevelopmental_delay_seizure Hypotonia;Neurodevelopmental delay;Seizure Supplemental_disease_name DISEASE_NAME:hypotonia_pes_planus_delayed_cns_myelination_global_developmental_delay Hypotonia;Pes planus;Delayed CNS myelination;Global developmental delay Supplemental_disease_name DISEASE_NAME:hypotonia_with_lactic_acidemia_and_hyperammonemia_ovarian_dysgenesis_7 Hypotonia with lactic acidemia and hyperammonemia;Ovarian dysgenesis 7 Supplemental_disease_name DISEASE_NAME:hypotonic_infant Hypotonic infant Supplemental_disease_name DISEASE_NAME:hypotrichosis_16 Hypotrichosis 16 Supplemental_disease_name DISEASE_NAME:hypotrichosis_2_peeling_skin_syndrome_1 Hypotrichosis 2;Peeling skin syndrome 1 Supplemental_disease_name DISEASE_NAME:hypotrichosis_lymphedema_telangiectasia_renal_defect_syndrome_hypotrichosis_lymphedema_telangiectasia_syndrome Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome;Hypotrichosis-lymphedema-telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:hypotrichosis_lymphedema_telangiectasia_syndrome_hypotrichosis_lymphedema_telangiectasia_renal_defect_syndrome Hypotrichosis-lymphedema-telangiectasia syndrome;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Supplemental_disease_name DISEASE_NAME:hypotrichosis_simplex Hypotrichosis simplex Supplemental_disease_name DISEASE_NAME:hypotrichosis_with_juvenile_macular_dystrophy Hypotrichosis with juvenile macular dystrophy Supplemental_disease_name DISEASE_NAME:hypouricemia_renal_2 Hypouricemia, renal, 2 Supplemental_disease_name DISEASE_NAME:hypoxic_ischemic_encephalopathy Hypoxic Ischemic Encephalopathy Supplemental_disease_name DISEASE_NAME:hyprtrophic_cardiomyopathy hyprtrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:iars1_related_disorder IARS1-related disorder Supplemental_disease_name DISEASE_NAME:iars2_related_disorder IARS2-related disorder Supplemental_disease_name DISEASE_NAME:iba57_related_disorder IBA57-related disorder Supplemental_disease_name DISEASE_NAME:ica1_related_disorder ICA1-related disorder Supplemental_disease_name DISEASE_NAME:icam1_related_disorder ICAM1-related disorder Supplemental_disease_name DISEASE_NAME:icam4_related_disorder ICAM4-related disorder Supplemental_disease_name DISEASE_NAME:ice1_related_disorder ICE1-related disorder Supplemental_disease_name DISEASE_NAME:ice2_related_disorder ICE2-related disorder Supplemental_disease_name DISEASE_NAME:ichad_syndrome ICHAD syndrome Supplemental_disease_name DISEASE_NAME:ichthyosis_abnormality_of_the_thyroid_gland_epidermolytic_ichthyosis_epidermal_nevus Ichthyosis;Abnormality of the thyroid gland;Epidermolytic ichthyosis;Epidermal nevus Supplemental_disease_name DISEASE_NAME:ichthyosis_and_erythrokeratoderma Ichthyosis and erythrokeratoderma Supplemental_disease_name DISEASE_NAME:ichthyosis_annular_epidermolytic_1 Ichthyosis, annular epidermolytic 1 Supplemental_disease_name DISEASE_NAME:ichthyosis_annular_epidermolytic_2 Ichthyosis, annular epidermolytic, 2 Supplemental_disease_name DISEASE_NAME:ichthyosis_congenital_autosomal_recessive_12 Ichthyosis, congenital, autosomal recessive 12 Supplemental_disease_name DISEASE_NAME:ichthyosis_congenital_autosomal_recessive_13 Ichthyosis, congenital, autosomal recessive 13 Supplemental_disease_name DISEASE_NAME:ichthyosis_congenital_autosomal_recessive_14 Ichthyosis, congenital, autosomal recessive 14 Supplemental_disease_name DISEASE_NAME:ichthyosis_dystonic_disorder_global_developmental_delay Ichthyosis;Dystonic disorder;Global developmental delay Supplemental_disease_name DISEASE_NAME:ichthyosis_hystrix_gravior Ichthyosis hystrix gravior Supplemental_disease_name DISEASE_NAME:ichthyosis_hystrix_like_with_hearing_loss Ichthyosis, hystrix-like, with hearing loss Supplemental_disease_name DISEASE_NAME:ichthyosis_hystrix_of_curth_macklin Ichthyosis hystrix of Curth-Macklin Supplemental_disease_name DISEASE_NAME:ichthyosis_linearis_circumflexa Ichthyosis linearis circumflexa Supplemental_disease_name DISEASE_NAME:ichthyosis_palmoplantar_hyperhidrosis_atrophic_scars_palmoplantar_blistering Ichthyosis;Palmoplantar hyperhidrosis;Atrophic scars;Palmoplantar blistering Supplemental_disease_name DISEASE_NAME:ichthyosis_prematurity_syndrome Ichthyosis prematurity syndrome Supplemental_disease_name DISEASE_NAME:ichthyosis_vulgaris_atopic_eczema Ichthyosis vulgaris;Atopic eczema Supplemental_disease_name DISEASE_NAME:ichthyosis_vulgaris_dermatitis_atopic_2 Ichthyosis vulgaris;Dermatitis, atopic, 2 Supplemental_disease_name DISEASE_NAME:ichthyosis_with_erythrokeratoderma Ichthyosis with erythrokeratoderma Supplemental_disease_name DISEASE_NAME:ichthyotic_keratoderma_spasticity_hypomyelination_and_dysmorphic_facial_features Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features Supplemental_disease_name DISEASE_NAME:icos_related_disorder ICOS-related disorder Supplemental_disease_name DISEASE_NAME:idh1_related_disorder IDH1-related disorder Supplemental_disease_name DISEASE_NAME:idh2_related_disorder IDH2-related disorder Supplemental_disease_name DISEASE_NAME:idh2_related_mitochondrial_disease IDH2-related mitochondrial disease Supplemental_disease_name DISEASE_NAME:idh3a_related_disorder IDH3A-related disorder Supplemental_disease_name DISEASE_NAME:idh3b_related_disorder IDH3B-related disorder Supplemental_disease_name DISEASE_NAME:idiopathic_and_or_familial_pulmonary_arterial_hypertension Idiopathic and/or familial pulmonary arterial hypertension Supplemental_disease_name DISEASE_NAME:idiopathic_and_or_familial_pulmonary_arterial_hypertension_pulmonary_arterial_hypertension Idiopathic and/or familial pulmonary arterial hypertension;Pulmonary arterial hypertension Supplemental_disease_name DISEASE_NAME:idiopathic_basal_ganglia_calcification Idiopathic basal ganglia calcification Supplemental_disease_name DISEASE_NAME:idiopathic_basal_ganglia_calcification_1 Idiopathic basal ganglia calcification 1 Supplemental_disease_name DISEASE_NAME:idiopathic_bronchiectasis Idiopathic bronchiectasis Supplemental_disease_name DISEASE_NAME:idiopathic_camptocormia Idiopathic camptocormia Supplemental_disease_name DISEASE_NAME:idiopathic_cd4_lymphocytopenia Idiopathic CD4 lymphocytopenia Supplemental_disease_name DISEASE_NAME:idiopathic_environmental_intolerance Idiopathic environmental intolerance Supplemental_disease_name DISEASE_NAME:idiopathic_generalized_epilepsy_epilepsy_childhood_absence_4_epilepsy_idiopathic_generalized_susceptibility_to_13 Idiopathic generalized epilepsy;Epilepsy, childhood absence 4;Epilepsy, idiopathic generalized, susceptibility to, 13 Supplemental_disease_name DISEASE_NAME:idiopathic_generalized_epilepsy_epilepsy_childhood_absence_susceptibility_to_6 Idiopathic generalized epilepsy;Epilepsy, childhood absence, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:idiopathic_generalized_epilepsy_epilepsy_idiopathic_generalized_susceptibility_to_13_epilepsy_childhood_absence_4 Idiopathic generalized epilepsy;Epilepsy, idiopathic generalized, susceptibility to, 13;Epilepsy, childhood absence 4 Supplemental_disease_name DISEASE_NAME:idiopathic_generalized_epilepsy_hyperaldosteronism_familial_type_iv Idiopathic generalized epilepsy;Hyperaldosteronism, familial, type IV Supplemental_disease_name DISEASE_NAME:idiopathic_growth_hormone_deficiency Idiopathic growth hormone deficiency Supplemental_disease_name DISEASE_NAME:idiopathic_hemiconvulsion_hemiplegia_syndrome_episodic_ataxia_type_2_spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1 Idiopathic hemiconvulsion-hemiplegia syndrome;Episodic ataxia type 2;Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:idiopathic_hypereosinophilic_syndrome Idiopathic hypereosinophilic syndrome Supplemental_disease_name DISEASE_NAME:idiopathic_hypereosinophilic_syndrome_gastrointestinal_stromal_tumor Idiopathic hypereosinophilic syndrome;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:idiopathic_hypereosinophilic_syndrome_polyps_multiple_and_recurrent_inflammatory_fibroid_gastrointestinal Idiopathic hypereosinophilic syndrome;Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal Supplemental_disease_name DISEASE_NAME:idiopathic_male_infertility Idiopathic male infertility Supplemental_disease_name DISEASE_NAME:idiopathic_multidrug_resistant_nephrotic_syndrome Idiopathic multidrug-resistant nephrotic syndrome Supplemental_disease_name DISEASE_NAME:idiopathic_nephrotic_syndrome Idiopathic nephrotic syndrome Supplemental_disease_name DISEASE_NAME:idiopathic_pulmonary_fibrosis Idiopathic pulmonary fibrosis Supplemental_disease_name DISEASE_NAME:idiopathic_pulmonary_fibrosis_dyskeratosis_congenita_autosomal_dominant_2 Idiopathic Pulmonary Fibrosis;Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:idiopathic_spontaneous_coronary_artery_dissection Idiopathic spontaneous coronary artery dissection Supplemental_disease_name DISEASE_NAME:idiopathic_transverse_myelitis Idiopathic transverse myelitis Supplemental_disease_name DISEASE_NAME:ids_related_disorder IDS-related disorder Supplemental_disease_name DISEASE_NAME:idua_pseudodeficiency IDUA PSEUDODEFICIENCY Supplemental_disease_name DISEASE_NAME:idua_related_core_myopathy IDUA-related core myopathy Supplemental_disease_name DISEASE_NAME:idua_related_disorder IDUA-related disorder Supplemental_disease_name DISEASE_NAME:ier3ip1_related_disorder IER3IP1-related disorder Supplemental_disease_name DISEASE_NAME:ifap_syndrome_1_with_or_without_bresheck_syndrome_keratosis_follicularis_spinulosa_decalvans_x_linked_osteogenesis_imperfecta_type_19_olmsted_syndrome_x_linked IFAP syndrome 1, with or without BRESHECK syndrome;Keratosis follicularis spinulosa decalvans, X-linked;Osteogenesis imperfecta, type 19;Olmsted syndrome, X-linked Supplemental_disease_name DISEASE_NAME:ifap_syndrome_2 IFAP syndrome 2 Supplemental_disease_name DISEASE_NAME:ifap_syndrome_2_hereditary_mucoepithelial_dysplasia IFAP syndrome 2;Hereditary mucoepithelial dysplasia Supplemental_disease_name DISEASE_NAME:ifih1_related_disorder IFIH1-related disorder Supplemental_disease_name DISEASE_NAME:ifih1_related_immunodeficiency IFIH1-related immunodeficiency Supplemental_disease_name DISEASE_NAME:ifih1_related_interferonopathy IFIH1-related interferonopathy Supplemental_disease_name DISEASE_NAME:ifih1_related_type_1_interferonopathy IFIH1-related type 1 interferonopathy Supplemental_disease_name DISEASE_NAME:ifitm5_related_disorder IFITM5-related disorder Supplemental_disease_name DISEASE_NAME:ifn_gamma_receptor_1_deficiency IFN-gamma receptor 1 deficiency Supplemental_disease_name DISEASE_NAME:ifnar1_related_disorder IFNAR1-related disorder Supplemental_disease_name DISEASE_NAME:ifnar2_related_disorder IFNAR2-related disorder Supplemental_disease_name DISEASE_NAME:ifne_related_disorder IFNE-related disorder Supplemental_disease_name DISEASE_NAME:ifngr1_related_disorder IFNGR1-related disorder Supplemental_disease_name DISEASE_NAME:ifngr2_related_disorder IFNGR2-related disorder Supplemental_disease_name DISEASE_NAME:ifnlr1_related_disorder IFNLR1-related disorder Supplemental_disease_name DISEASE_NAME:ifrd1_related_disorder IFRD1-related disorder Supplemental_disease_name DISEASE_NAME:ift122_related_disorder IFT122-related disorder Supplemental_disease_name DISEASE_NAME:ift140_associated_disorder IFT140-associated disorder Supplemental_disease_name DISEASE_NAME:ift140_related_disorder IFT140-related disorder Supplemental_disease_name DISEASE_NAME:ift172_related_disorder IFT172-related disorder Supplemental_disease_name DISEASE_NAME:ift27_related_disorder IFT27-related disorder Supplemental_disease_name DISEASE_NAME:ift43_related_disorder IFT43-related disorder Supplemental_disease_name DISEASE_NAME:ift52_related_disorder IFT52-related disorder Supplemental_disease_name DISEASE_NAME:ift56_related_disorder IFT56-related disorder Supplemental_disease_name DISEASE_NAME:ift57_related_disorder IFT57-related disorder Supplemental_disease_name DISEASE_NAME:ift70b_related_disorder IFT70B-related disorder Supplemental_disease_name DISEASE_NAME:ift74_related_disorder IFT74-related disorder Supplemental_disease_name DISEASE_NAME:ift80_related_disorder IFT80-related disorder Supplemental_disease_name DISEASE_NAME:ift80_related_skeletal_disorders IFT80-related skeletal disorders Supplemental_disease_name DISEASE_NAME:ift81_related_disorder IFT81-related disorder Supplemental_disease_name DISEASE_NAME:ift88_related_disorder IFT88-related disorder Supplemental_disease_name DISEASE_NAME:iga_nephropathy_susceptibility_to IgA nephropathy, susceptibility to Supplemental_disease_name DISEASE_NAME:iga_nephropathy_susceptibility_to_3 IgA nephropathy, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:igad1_immunodeficiency_common_variable_2 IgAD1;Immunodeficiency, common variable, 2 Supplemental_disease_name DISEASE_NAME:igbp1_related_disorder IGBP1-related disorder Supplemental_disease_name DISEASE_NAME:igdcc4_related_developmental_disorder IGDCC4-related developmental disorder Supplemental_disease_name DISEASE_NAME:ige_responsiveness Ige responsiveness Supplemental_disease_name DISEASE_NAME:ige_responsiveness_atopic IgE responsiveness, atopic Supplemental_disease_name DISEASE_NAME:ige_responsiveness_atopic_cryptosporidiosis_chronic_cholangitis_liver_disease_syndrome IgE responsiveness, atopic;Cryptosporidiosis-chronic cholangitis-liver disease syndrome Supplemental_disease_name DISEASE_NAME:ige_responsiveness_atopic_susceptibility_to_hiv_infection IgE responsiveness, atopic;Susceptibility to HIV infection Supplemental_disease_name DISEASE_NAME:igf1_related_disorder IGF1-related disorder Supplemental_disease_name DISEASE_NAME:igf1r_related_disorder IGF1R-related disorder Supplemental_disease_name DISEASE_NAME:igf2_related_disorder IGF2-related disorder Supplemental_disease_name DISEASE_NAME:igfals_related_disorder IGFALS-related disorder Supplemental_disease_name DISEASE_NAME:igfbp7_related_disorder IGFBP7-related disorder Supplemental_disease_name DISEASE_NAME:igg_receptor_i_phagocytic_familial_deficiency_of IGG receptor I, phagocytic, familial deficiency of Supplemental_disease_name DISEASE_NAME:ighmbp2_related_disorder IGHMBP2-related disorder Supplemental_disease_name DISEASE_NAME:igll1_related_condition IGLL1-related condition Supplemental_disease_name DISEASE_NAME:igsf10_related_disorder IGSF10-related disorder Supplemental_disease_name DISEASE_NAME:igsf1_related_disorder IGSF1-related disorder Supplemental_disease_name DISEASE_NAME:igsf3_related_disorder IGSF3-related disorder Supplemental_disease_name DISEASE_NAME:igsf9b_related_condition IGSF9B-related condition Supplemental_disease_name DISEASE_NAME:ihh_related_disorder IHH-related disorder Supplemental_disease_name DISEASE_NAME:ihh_related_disorders IHH-Related Disorders Supplemental_disease_name DISEASE_NAME:ikbkb_related_disorder IKBKB-related disorder Supplemental_disease_name DISEASE_NAME:ikbkg_related_disorder IKBKG-related disorder Supplemental_disease_name DISEASE_NAME:ikzf1_related_disorder IKZF1-related disorder Supplemental_disease_name DISEASE_NAME:ikzf5_related_disorder IKZF5-related disorder Supplemental_disease_name DISEASE_NAME:il10_related_early_onset_inflammatory_bowel_disease IL10-related early-onset inflammatory bowel disease Supplemental_disease_name DISEASE_NAME:il10_related_early_onset_inflammatory_bowel_disease_inborn_error_of_immunity IL10-related early-onset inflammatory bowel disease;Inborn error of immunity Supplemental_disease_name DISEASE_NAME:il10ra_related_disorder IL10RA-related disorder Supplemental_disease_name DISEASE_NAME:il10rb_related_disorder IL10RB-related disorder Supplemental_disease_name DISEASE_NAME:il11ra_related_disorder IL11RA-related disorder Supplemental_disease_name DISEASE_NAME:il12b_related_disorder IL12B-related disorder Supplemental_disease_name DISEASE_NAME:il12rb1_related_disorder IL12RB1-related disorder Supplemental_disease_name DISEASE_NAME:il12rb2_related_disorder IL12RB2-related disorder Supplemental_disease_name DISEASE_NAME:il13_related_disorder IL13-related disorder Supplemental_disease_name DISEASE_NAME:il17f_related_disorder IL17F-related disorder Supplemental_disease_name DISEASE_NAME:il17ra_related_disorder IL17RA-related disorder Supplemental_disease_name DISEASE_NAME:il17rc_related_disorder IL17RC-related disorder Supplemental_disease_name DISEASE_NAME:il17rd_related_disorder IL17RD-related disorder Supplemental_disease_name DISEASE_NAME:il1a_related_disorder IL1A-related disorder Supplemental_disease_name DISEASE_NAME:il1b_related_disorder IL1B-related disorder Supplemental_disease_name DISEASE_NAME:il1rapl1_related_disorder IL1RAPL1-related disorder Supplemental_disease_name DISEASE_NAME:il1rn_related_disorder IL1RN-related disorder Supplemental_disease_name DISEASE_NAME:il21_related_disorder IL21-related disorder Supplemental_disease_name DISEASE_NAME:il21_related_infantile_inflammatory_bowel_disease IL21-related infantile inflammatory bowel disease Supplemental_disease_name DISEASE_NAME:il21r_related_disorder IL21R-related disorder Supplemental_disease_name DISEASE_NAME:il23r_related_disorder IL23R-related disorder Supplemental_disease_name DISEASE_NAME:il2_related_disorder IL2-related disorder Supplemental_disease_name DISEASE_NAME:il2ra_related_disorder IL2RA-related disorder Supplemental_disease_name DISEASE_NAME:il2rb_related_disorder IL2RB-related disorder Supplemental_disease_name DISEASE_NAME:il2rg_related_disorder IL2RG-related disorder Supplemental_disease_name DISEASE_NAME:il31ra_related_disorder IL31RA-related disorder Supplemental_disease_name DISEASE_NAME:il34_related_disorder IL34-related disorder Supplemental_disease_name DISEASE_NAME:il36rn_related_disorder IL36RN-related disorder Supplemental_disease_name DISEASE_NAME:il4r_related_disorder IL4R-related disorder Supplemental_disease_name DISEASE_NAME:il6_polymorphism IL6 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:il6_related_disorder IL6-related disorder Supplemental_disease_name DISEASE_NAME:il6r_related_disorder IL6R-related disorder Supplemental_disease_name DISEASE_NAME:il6st_related_disorder IL6ST-related disorder Supplemental_disease_name DISEASE_NAME:il7_related_disorder IL7-related disorder Supplemental_disease_name DISEASE_NAME:il7r_related_disorder IL7R-related disorder Supplemental_disease_name DISEASE_NAME:ildr1_related_disorder ILDR1-related disorder Supplemental_disease_name DISEASE_NAME:ilk_related_cardiomyopathy ILK-related cardiomyopathy Supplemental_disease_name DISEASE_NAME:ilk_related_disorder ILK-related disorder Supplemental_disease_name DISEASE_NAME:imagawa_matsumoto_syndrome Imagawa-Matsumoto syndrome Supplemental_disease_name DISEASE_NAME:image_syndrome_beckwith_wiedemann_syndrome IMAGe syndrome;Beckwith-Wiedemann syndrome Supplemental_disease_name DISEASE_NAME:image_syndrome_beckwith_wiedemann_syndrome_due_to_cdkn1c_mutation IMAGe syndrome;Beckwith-Wiedemann syndrome due to CDKN1C mutation Supplemental_disease_name DISEASE_NAME:imatinib_response Imatinib response Supplemental_disease_name DISEASE_NAME:imerslund_grasbeck_syndrome_type_1 Imerslund-Grasbeck syndrome type 1 Supplemental_disease_name DISEASE_NAME:imerslund_grasbeck_syndrome_type_1_proteinuria_chronic_benign Imerslund-Grasbeck syndrome type 1;Proteinuria, chronic benign Supplemental_disease_name DISEASE_NAME:imerslund_grasbeck_syndrome_type_2 Imerslund-Grasbeck syndrome type 2 Supplemental_disease_name DISEASE_NAME:iminoglycinuria_digenic Iminoglycinuria, digenic Supplemental_disease_name DISEASE_NAME:iminoglycinuria_hyperglycinuria Iminoglycinuria;Hyperglycinuria Supplemental_disease_name DISEASE_NAME:iminoglycinuria_hyperglycinuria_neutral_1_amino_acid_transport_defect Iminoglycinuria;Hyperglycinuria;Neutral 1 amino acid transport defect Supplemental_disease_name DISEASE_NAME:iminoglycinuria_neutral_1_amino_acid_transport_defect_hyperglycinuria Iminoglycinuria;Neutral 1 amino acid transport defect;Hyperglycinuria Supplemental_disease_name DISEASE_NAME:immature_ovarian_teratoma Immature ovarian teratoma Supplemental_disease_name DISEASE_NAME:immp2l_related_disorder IMMP2L-related disorder Supplemental_disease_name DISEASE_NAME:immune_deficiency_familial_variable Immune deficiency, familial variable Supplemental_disease_name DISEASE_NAME:immune_dysregulation_autoimmunity_and_autoinflammation Immune dysregulation, autoimmunity, and autoinflammation Supplemental_disease_name DISEASE_NAME:immunodeficiency Immunodeficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_104 Immunodeficiency 104 Supplemental_disease_name DISEASE_NAME:immunodeficiency_104_hepatitis_c_virus_susceptibility_to Immunodeficiency 104;Hepatitis C virus, susceptibility to Supplemental_disease_name DISEASE_NAME:immunodeficiency_104_severe_combined_susceptibility_to IMMUNODEFICIENCY 104, SEVERE COMBINED, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:immunodeficiency_105 Immunodeficiency 105 Supplemental_disease_name DISEASE_NAME:immunodeficiency_106_susceptibility_to_viral_infections Immunodeficiency 106, susceptibility to viral infections Supplemental_disease_name DISEASE_NAME:immunodeficiency_106_susceptibility_to_viral_infections_immunodeficiency_28_digenic IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS/IMMUNODEFICIENCY 28, DIGENIC Supplemental_disease_name DISEASE_NAME:immunodeficiency_107_susceptibility_to_invasive_staphylococcus_aureus_infection Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection Supplemental_disease_name DISEASE_NAME:immunodeficiency_107_susceptibility_to_invasive_staphylococcus_aureus_infection_autoinflammation_panniculitis_and_dermatosis_syndrome_autosomal_recessive Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection;Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:immunodeficiency_109_with_lymphoproliferation Immunodeficiency 109 with lymphoproliferation Supplemental_disease_name DISEASE_NAME:immunodeficiency_113_with_autoimmunity_and_autoinflammation Immunodeficiency 113 with autoimmunity and autoinflammation Supplemental_disease_name DISEASE_NAME:immunodeficiency_114_folate_responsive Immunodeficiency 114, folate-responsive Supplemental_disease_name DISEASE_NAME:immunodeficiency_11b_with_atopic_dermatitis_benta_disease Immunodeficiency 11b with atopic dermatitis;BENTA disease Supplemental_disease_name DISEASE_NAME:immunodeficiency_11b_with_atopic_dermatitis_benta_disease_severe_combined_immunodeficiency_due_to_card11_deficiency Immunodeficiency 11b with atopic dermatitis;BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_11b_with_atopic_dermatitis_severe_combined_immunodeficiency_due_to_card11_deficiency_benta_disease Immunodeficiency 11b with atopic dermatitis;Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease Supplemental_disease_name DISEASE_NAME:immunodeficiency_120_colorectal_cancer_susceptibility_to_10_mandibular_hypoplasia_deafness_progeroid_syndrome Immunodeficiency 120;Colorectal cancer, susceptibility to, 10;Mandibular hypoplasia-deafness-progeroid syndrome Supplemental_disease_name DISEASE_NAME:immunodeficiency_120_mandibular_hypoplasia_deafness_progeroid_syndrome_colorectal_cancer_susceptibility_to_10 Immunodeficiency 120;Mandibular hypoplasia-deafness-progeroid syndrome;Colorectal cancer, susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:immunodeficiency_126_susceptibility_to Immunodeficiency 126, susceptibility to Supplemental_disease_name DISEASE_NAME:immunodeficiency_133_with_ectodermal_dysplasia_with_or_without_peripheral_neuropathy Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy Supplemental_disease_name DISEASE_NAME:immunodeficiency_134_epstein_barr_virus_specific Immunodeficiency 134 (Epstein-Barr virus-specific) Supplemental_disease_name DISEASE_NAME:immunodeficiency_14_immunodeficiency_14b_autosomal_recessive_combined_immunodeficiency_with_faciooculoskeletal_anomalies Immunodeficiency 14;Immunodeficiency 14b, autosomal recessive;Combined immunodeficiency with faciooculoskeletal anomalies Supplemental_disease_name DISEASE_NAME:immunodeficiency_14b_autosomal_recessive Immunodeficiency 14b, autosomal recessive Supplemental_disease_name DISEASE_NAME:immunodeficiency_14b_autosomal_recessive_combined_immunodeficiency_with_faciooculoskeletal_anomalies_immunodeficiency_14 Immunodeficiency 14b, autosomal recessive;Combined immunodeficiency with faciooculoskeletal anomalies;Immunodeficiency 14 Supplemental_disease_name DISEASE_NAME:immunodeficiency_14b_autosomal_recessive_immunodeficiency_14 Immunodeficiency 14b, autosomal recessive;Immunodeficiency 14 Supplemental_disease_name DISEASE_NAME:immunodeficiency_14b_autosomal_recessive_immunodeficiency_14_combined_immunodeficiency_with_faciooculoskeletal_anomalies Immunodeficiency 14b, autosomal recessive;Immunodeficiency 14;Combined immunodeficiency with faciooculoskeletal anomalies Supplemental_disease_name DISEASE_NAME:immunodeficiency_15a_severe_combined_immunodeficiency_due_to_ikk2_deficiency Immunodeficiency 15a;Severe combined immunodeficiency due to IKK2 deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_18_severe_combined_immunodeficiency_variant Immunodeficiency 18, severe combined immunodeficiency variant Supplemental_disease_name DISEASE_NAME:immunodeficiency_26_without_neurologic_abnormalities IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES Supplemental_disease_name DISEASE_NAME:immunodeficiency_27a_autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency Immunodeficiency 27A;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_27a_autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_ifngammar1_deficiency_helicobacter_pylori_infection_susceptibility_to Immunodeficiency 27A;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;Helicobacter pylori infection, susceptibility to Supplemental_disease_name DISEASE_NAME:immunodeficiency_31b_autoimmune_enteropathy_and_endocrinopathy_susceptibility_to_chronic_infections_syndrome_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_stat1_deficiency Immunodeficiency 31B;Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome;Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_31b_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_stat1_deficiency Immunodeficiency 31B;Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_31b_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_stat1_deficiency_autoimmune_enteropathy_and_endocrinopathy_susceptibility_to_chronic_infections_syndrome Immunodeficiency 31B;Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency;Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Supplemental_disease_name DISEASE_NAME:immunodeficiency_32b_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_irf8_deficiency Immunodeficiency 32B;Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_33_incontinentia_pigmenti_syndrome_autoinflammatory_disease_x_linked_ectodermal_dysplasia_and_immunodeficiency_1 Immunodeficiency 33;Incontinentia pigmenti syndrome;Autoinflammatory disease, X-linked;Ectodermal dysplasia and immunodeficiency 1 Supplemental_disease_name DISEASE_NAME:immunodeficiency_33_incontinentia_pigmenti_syndrome_ectodermal_dysplasia_and_immunodeficiency_1_anhidrotic_ectodermal_dysplasia_immunodeficiency_osteopetrosis_lymphedema_syndrome Immunodeficiency 33;Incontinentia pigmenti syndrome;Ectodermal dysplasia and immunodeficiency 1;Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Supplemental_disease_name DISEASE_NAME:immunodeficiency_33_male_restricted IMMUNODEFICIENCY 33, MALE-RESTRICTED Supplemental_disease_name DISEASE_NAME:immunodeficiency_36_with_lymphoproliferation_agammaglobulinemia_7_autosomal_recessive_short_syndrome Immunodeficiency 36 with lymphoproliferation;Agammaglobulinemia 7, autosomal recessive;SHORT syndrome Supplemental_disease_name DISEASE_NAME:immunodeficiency_36_with_lymphoproliferation_short_syndrome Immunodeficiency 36 with lymphoproliferation;SHORT syndrome Supplemental_disease_name DISEASE_NAME:immunodeficiency_36_with_lymphoproliferation_short_syndrome_agammaglobulinemia_7_autosomal_recessive Immunodeficiency 36 with lymphoproliferation;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive Supplemental_disease_name DISEASE_NAME:immunodeficiency_49_intellectual_developmental_disorder_with_speech_delay_dysmorphic_facies_and_t_cell_abnormalities Immunodeficiency 49;Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities Supplemental_disease_name DISEASE_NAME:immunodeficiency_57_autoinflammation_with_episodic_fever_and_lymphadenopathy Immunodeficiency 57;Autoinflammation with episodic fever and lymphadenopathy Supplemental_disease_name DISEASE_NAME:immunodeficiency_67 Immunodeficiency 67 Supplemental_disease_name DISEASE_NAME:immunodeficiency_74_covid_19_related_x_linked Immunodeficiency 74, COVID-19-related, X-linked Supplemental_disease_name DISEASE_NAME:immunodeficiency_74_covid_19_related_x_linked_systemic_lupus_erythematosus_17 Immunodeficiency 74, COVID-19-related, X-linked;Systemic lupus erythematosus 17 Supplemental_disease_name DISEASE_NAME:immunodeficiency_75 Immunodeficiency 75 Supplemental_disease_name DISEASE_NAME:immunodeficiency_76 Immunodeficiency 76 Supplemental_disease_name DISEASE_NAME:immunodeficiency_77 Immunodeficiency 77 Supplemental_disease_name DISEASE_NAME:immunodeficiency_78_with_autoimmunity_and_developmental_delay Immunodeficiency 78 with autoimmunity and developmental delay Supplemental_disease_name DISEASE_NAME:immunodeficiency_79_okt4_epitope_deficiency Immunodeficiency 79;Okt4 epitope deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_80_with_or_without_congenital_cardiomyopathy Immunodeficiency 80 with or without congenital cardiomyopathy Supplemental_disease_name DISEASE_NAME:immunodeficiency_83_susceptibility_to_viral_infections Immunodeficiency 83, susceptibility to viral infections Supplemental_disease_name DISEASE_NAME:immunodeficiency_83_susceptibility_to_viral_infections_susceptibility_to_hiv_infection Immunodeficiency 83, susceptibility to viral infections;Susceptibility to HIV infection Supplemental_disease_name DISEASE_NAME:immunodeficiency_88_asthma_nasal_polyps_and_aspirin_intolerance Immunodeficiency 88;Asthma, nasal polyps, and aspirin intolerance Supplemental_disease_name DISEASE_NAME:immunodeficiency_95_aicardi_goutieres_syndrome_7_singleton_merten_syndrome_1 Immunodeficiency 95;Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1 Supplemental_disease_name DISEASE_NAME:immunodeficiency_95_singleton_merten_syndrome_1_aicardi_goutieres_syndrome_7 Immunodeficiency 95;Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7 Supplemental_disease_name DISEASE_NAME:immunodeficiency_98_with_autoinflammation_x_linked Immunodeficiency 98 with autoinflammation, X-linked Supplemental_disease_name DISEASE_NAME:immunodeficiency_and_autoimmune_enterocolopathy Immunodeficiency and Autoimmune Enterocolopathy Supplemental_disease_name DISEASE_NAME:immunodeficiency_centromeric_instability_facial_anomalies_syndrome_1_facioscapulohumeral_muscular_dystrophy_4_digenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1;Facioscapulohumeral muscular dystrophy 4, digenic Supplemental_disease_name DISEASE_NAME:immunodeficiency_cerebellar_ataxia_conjunctival_telangiectasia_oculomotor_apraxia Immunodeficiency;Cerebellar ataxia;Conjunctival telangiectasia;Oculomotor apraxia Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_1 Immunodeficiency, common variable, 1 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_10 Immunodeficiency, common variable, 10 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_10_immunodeficiency_common_variable_1 Immunodeficiency, common variable, 10;Immunodeficiency, common variable, 1 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_12 Immunodeficiency, common variable, 12 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_14 Immunodeficiency, common variable, 14 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_15 Immunodeficiency, common variable, 15 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_2 Immunodeficiency, common variable, 2 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_2_immunodeficiency_common_variable_1 Immunodeficiency, common variable, 2;Immunodeficiency, common variable, 1 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_2_immunodeficiency_common_variable_3 Immunodeficiency, common variable, 2;Immunodeficiency, common variable, 3 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_2_immunoglobulin_a_deficiency_2 Immunodeficiency, common variable, 2;Immunoglobulin A deficiency 2 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_3 Immunodeficiency, common variable, 3 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_4 Immunodeficiency, common variable, 4 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_5 Immunodeficiency, common variable, 5 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_6 Immunodeficiency, common variable, 6 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_7 Immunodeficiency, common variable, 7 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_7_immunodeficiency_common_variable_2_systemic_lupus_erythematosus_susceptibility_to_9 Immunodeficiency, common variable, 7;Immunodeficiency, common variable, 2;Systemic lupus erythematosus, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_7_systemic_lupus_erythematosus_susceptibility_to_9 Immunodeficiency, common variable, 7;Systemic lupus erythematosus, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:immunodeficiency_common_variable_7_systemic_lupus_erythematosus_susceptibility_to_9_immunodeficiency_common_variable_2 Immunodeficiency, common variable, 7;Systemic lupus erythematosus, susceptibility to, 9;Immunodeficiency, common variable, 2 Supplemental_disease_name DISEASE_NAME:immunodeficiency_due_to_a_late_component_of_complement_deficiency Immunodeficiency due to a late component of complement deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_due_to_cd25_deficiency_type_1_diabetes_mellitus_10 Immunodeficiency due to CD25 deficiency;Type 1 diabetes mellitus 10 Supplemental_disease_name DISEASE_NAME:immunodeficiency_due_to_ficolin3_deficiency Immunodeficiency due to ficolin3 deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_due_to_masp_2_deficiency Immunodeficiency due to MASP-2 deficiency Supplemental_disease_name DISEASE_NAME:immunodeficiency_with_t_and_b_cell_lymphopenia Immunodeficiency with T and B cell lymphopenia Supplemental_disease_name DISEASE_NAME:immunodysregulation_with_variable_immunodeficiency_and_autoimmunity Immunodysregulation with variable immunodeficiency and autoimmunity Supplemental_disease_name DISEASE_NAME:immunodysregulation_with_variable_immunodeficiency_and_autoimmunity_autosomal_recessive IMMUNODYSREGULATION WITH VARIABLE IMMUNODEFICIENCY AND AUTOIMMUNITY, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:immunoglobulin_a_deficiency_2 Immunoglobulin A deficiency 2 Supplemental_disease_name DISEASE_NAME:immunoglobulin_a_deficiency_2_immunodeficiency_common_variable_2 Immunoglobulin A deficiency 2;Immunodeficiency, common variable, 2 Supplemental_disease_name DISEASE_NAME:immunoglobulin_kappa_light_chain_deficiency Immunoglobulin kappa light chain deficiency Supplemental_disease_name DISEASE_NAME:immunoglobulin_mediated_membranoproliferative_glomerulonephritis_mesangiocapillary_glomerulonephritis Immunoglobulin-mediated membranoproliferative glomerulonephritis;Mesangiocapillary glomerulonephritis Supplemental_disease_name DISEASE_NAME:immunoskeletal_dysplasia_with_neurodevelopmental_abnormalities Immunoskeletal dysplasia with neurodevelopmental abnormalities Supplemental_disease_name DISEASE_NAME:impa1_related_disorder IMPA1-related disorder Supplemental_disease_name DISEASE_NAME:impaired_adp_induced_platelet_aggregation Impaired ADP-induced platelet aggregation Supplemental_disease_name DISEASE_NAME:impaired_intellectual_development_and_distinctive_facial_features_with_cardiac_defects Impaired intellectual development and distinctive facial features with cardiac defects Supplemental_disease_name DISEASE_NAME:impaired_ristocetin_induced_platelet_aggregation Impaired ristocetin-induced platelet aggregation Supplemental_disease_name DISEASE_NAME:impaired_spermatogenesis Impaired spermatogenesis Supplemental_disease_name DISEASE_NAME:impaired_temperature_sensation Impaired temperature sensation Supplemental_disease_name DISEASE_NAME:impaired_thromboxane_a2_agonist_induced_platelet_aggregation Impaired thromboxane A2 agonist-induced platelet aggregation Supplemental_disease_name DISEASE_NAME:impdh1_related_disorder IMPDH1-related disorder Supplemental_disease_name DISEASE_NAME:impdh2_associated_neurodevelopmental_disorder IMPDH2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:impdh2_enzyme_activity_variation_in IMPDH2 enzyme activity, variation in Supplemental_disease_name DISEASE_NAME:impdh2_related_disorder IMPDH2-related disorder Supplemental_disease_name DISEASE_NAME:impdh2_related_neurodevelopmental_condition IMPDH2-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:impg1_related_disorder IMPG1-related disorder Supplemental_disease_name DISEASE_NAME:impg2_related_disorder IMPG2-related disorder Supplemental_disease_name DISEASE_NAME:impg2_related_recessive_retinopathy IMPG2-related recessive retinopathy Supplemental_disease_name DISEASE_NAME:in_utero_death In utero death Supplemental_disease_name DISEASE_NAME:inability_to_walk_dystonic_disorder_nystagmus Inability to walk;Dystonic disorder;Nystagmus Supplemental_disease_name DISEASE_NAME:inborn_aminoacylase_deficiency Inborn aminoacylase deficiency Supplemental_disease_name DISEASE_NAME:inborn_disorder_of_lysine_and_hydroxylysine_metabolism Inborn disorder of lysine and hydroxylysine metabolism Supplemental_disease_name DISEASE_NAME:inborn_error_of_hematopoiesis_and_immunity_with_systemic_inflammation_and_normocytic_anemia Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia Supplemental_disease_name DISEASE_NAME:inborn_error_of_immunity Inborn error of immunity Supplemental_disease_name DISEASE_NAME:inborn_error_of_immunity_recombinase_activating_gene_2_deficiency Inborn error of immunity;Recombinase activating gene 2 deficiency Supplemental_disease_name DISEASE_NAME:inborn_error_of_immunity_severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_recombinase_activating_gene_2_deficiency Inborn error of immunity;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Recombinase activating gene 2 deficiency Supplemental_disease_name DISEASE_NAME:inborn_genetic_diseases Inborn genetic diseases Supplemental_disease_name DISEASE_NAME:inborn_genetic_diseases_chilblain_lupus_1_aicardi_goutieres_syndrome_1 Inborn genetic diseases;Chilblain lupus 1;Aicardi-Goutieres syndrome 1 Supplemental_disease_name DISEASE_NAME:inborn_genetic_diseases_juvenile_nephropathic_cystinosis_ocular_cystinosis Inborn genetic diseases;Juvenile nephropathic cystinosis;Ocular cystinosis Supplemental_disease_name DISEASE_NAME:inborn_genetic_diseases_ocular_cystinosis_juvenile_nephropathic_cystinosis Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis Supplemental_disease_name DISEASE_NAME:inborn_glycerol_kinase_deficiency Inborn glycerol kinase deficiency Supplemental_disease_name DISEASE_NAME:inborn_mitochondrial_myopathy Inborn mitochondrial myopathy Supplemental_disease_name DISEASE_NAME:inborn_mitochondrial_myopathy_sideroblastic_anemia Inborn mitochondrial myopathy;Sideroblastic anemia Supplemental_disease_name DISEASE_NAME:incidental_discovery Incidental Discovery Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy Inclusion body myopathy Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia_2 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia_2_oculopharyngeal_muscular_dystrophy_2 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2;Oculopharyngeal muscular dystrophy 2 Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia_3 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia_3_amyotrophic_lateral_sclerosis_type_20 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3;Amyotrophic lateral sclerosis type 20 Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_with_early_onset_paget_disease_with_or_without_frontotemporal_dementia_3_amyotrophic_lateral_sclerosis_type_20_finnish_upper_limb_onset_distal_myopathy Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3;Amyotrophic lateral sclerosis type 20;Finnish upper limb-onset distal myopathy Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_with_paget_disease_of_bone_and_frontotemporal_dementia_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_with_paget_disease_of_bone_and_frontotemporal_dementia_type_1 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_with_paget_disease_of_bone_and_frontotemporal_dementia_type_1_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Supplemental_disease_name DISEASE_NAME:inclusion_body_myopathy_without_early_onset_paget_disease_and_frontotemporal_dementia_1 INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 Supplemental_disease_name DISEASE_NAME:incomprehensible_speech_alopecia_developmental_regression_alopecia_areata_stereotypic_movement_disorder Incomprehensible speech;Alopecia;Developmental regression;Alopecia areata;Stereotypic movement disorder Supplemental_disease_name DISEASE_NAME:incoordination Incoordination Supplemental_disease_name DISEASE_NAME:increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific Increased analgesia from kappa-opioid receptor agonist, female-specific Supplemental_disease_name DISEASE_NAME:increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_melanoma_cutaneous_malignant_susceptibility_to_5_tyrosinase_positive_oculocutaneous_albinism_skin_hair_eye_pigmentation_variation_in_2 Increased analgesia from kappa-opioid receptor agonist, female-specific;Melanoma, cutaneous malignant, susceptibility to, 5;Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Supplemental_disease_name DISEASE_NAME:increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_tyrosinase_positive_oculocutaneous_albinism_skin_hair_eye_pigmentation_variation_in_2_melanoma_cutaneous_malignant_susceptibility_to_5 Increased analgesia from kappa-opioid receptor agonist, female-specific;Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Melanoma, cutaneous malignant, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:increased_circulating_aldosterone_concentration Increased circulating aldosterone concentration Supplemental_disease_name DISEASE_NAME:increased_circulating_ferritin_concentration Increased circulating ferritin concentration Supplemental_disease_name DISEASE_NAME:increased_circulating_ige_concentration Increased circulating IgE concentration Supplemental_disease_name DISEASE_NAME:increased_circulating_ige_concentration_erythroderma Increased circulating IgE concentration;Erythroderma Supplemental_disease_name DISEASE_NAME:increased_circulating_ige_concentration_food_allergy_increased_total_eosinophil_count_atopic_eczema Increased circulating IgE concentration;Food allergy;Increased total eosinophil count;Atopic eczema Supplemental_disease_name DISEASE_NAME:increased_circulating_interleukin_6_concentration Increased circulating interleukin 6 concentration Supplemental_disease_name DISEASE_NAME:increased_cold_tolerance INCREASED COLD TOLERANCE Supplemental_disease_name DISEASE_NAME:increased_hepatic_glycogen_content Increased hepatic glycogen content Supplemental_disease_name DISEASE_NAME:increased_histidine Increased histidine Supplemental_disease_name DISEASE_NAME:increased_left_ventricular_wall_thickness Increased left ventricular wall thickness Supplemental_disease_name DISEASE_NAME:increased_mean_platelet_volume Increased mean platelet volume Supplemental_disease_name DISEASE_NAME:increased_muscle_glycogen_content Increased muscle glycogen content Supplemental_disease_name DISEASE_NAME:increased_nuchal_translucency Increased nuchal translucency Supplemental_disease_name DISEASE_NAME:increased_number_of_skin_folds_interphalangeal_joint_contracture_of_finger_emphysema_abnormal_facial_shape_pleural_effusion Increased number of skin folds;Interphalangeal joint contracture of finger;Emphysema;Abnormal facial shape;Pleural effusion Supplemental_disease_name DISEASE_NAME:increased_responsiveness_to_growth_hormone Increased responsiveness to growth hormone Supplemental_disease_name DISEASE_NAME:increased_risk_to_develop_myelodysplastic_syndrome_acute_myeloid_leukemia_or_chronic_myelomonocytic_leukemia Increased risk to develop myelodysplastic syndrome, acute myeloid leukemia, or chronic myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:increased_susceptibility_to_fractures Increased susceptibility to fractures Supplemental_disease_name DISEASE_NAME:increased_susceptibility_to_pneumonia increased susceptibility to pneumonia Supplemental_disease_name DISEASE_NAME:indian_blood_group_system_polymorphism INDIAN BLOOD GROUP SYSTEM POLYMORPHISM Supplemental_disease_name DISEASE_NAME:indifference_to_pain_congenital_autosomal_dominant Indifference to pain, congenital, autosomal dominant Supplemental_disease_name DISEASE_NAME:inf2_related_disorder INF2-related disorder Supplemental_disease_name DISEASE_NAME:infant_onset_multiple_organ_failure Infant onset multiple organ failure Supplemental_disease_name DISEASE_NAME:infantile_bilateral_striatal_necrosis Infantile bilateral striatal necrosis Supplemental_disease_name DISEASE_NAME:infantile_cerebellar_retinal_degeneration_optic_atrophy_9 Infantile cerebellar-retinal degeneration;Optic atrophy 9 Supplemental_disease_name DISEASE_NAME:infantile_convulsions_and_choreoathetosis Infantile convulsions and choreoathetosis Supplemental_disease_name DISEASE_NAME:infantile_convulsions_and_choreoathetosis_episodic_kinesigenic_dyskinesia_1 Infantile convulsions and choreoathetosis;Episodic kinesigenic dyskinesia 1 Supplemental_disease_name DISEASE_NAME:infantile_convulsions_and_choreoathetosis_episodic_kinesigenic_dyskinesia_1_seizures_benign_familial_infantile_2 Infantile convulsions and choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 Supplemental_disease_name DISEASE_NAME:infantile_convulsions_and_choreoathetosis_seizures_benign_familial_infantile_2_episodic_kinesigenic_dyskinesia_1 Infantile convulsions and choreoathetosis;Seizures, benign familial infantile, 2;Episodic kinesigenic dyskinesia 1 Supplemental_disease_name DISEASE_NAME:infantile_cortical_hyperostosis_ehlers_danlos_syndrome_arthrochalasia_type_osteogenesis_imperfecta_ehlers_danlos_syndrome Infantile cortical hyperostosis;Ehlers-Danlos syndrome, arthrochalasia type;Osteogenesis imperfecta;Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:infantile_encephalopathy Infantile encephalopathy Supplemental_disease_name DISEASE_NAME:infantile_epilepsy Infantile epilepsy Supplemental_disease_name DISEASE_NAME:infantile_epilepsy_syndrome Infantile epilepsy syndrome Supplemental_disease_name DISEASE_NAME:infantile_epileptic_dyskinetic_encephalopathy Infantile epileptic dyskinetic encephalopathy Supplemental_disease_name DISEASE_NAME:infantile_gm1_gangliosidosis Infantile GM1 gangliosidosis Supplemental_disease_name DISEASE_NAME:infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_2_gm1_gangliosidosis_type_3 Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2;GM1 gangliosidosis type 3 Supplemental_disease_name DISEASE_NAME:infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_2_gm1_gangliosidosis_type_3_mucopolysaccharidosis_mps_iv_b Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2;GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B Supplemental_disease_name DISEASE_NAME:infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_3_gm1_gangliosidosis_type_2_mucopolysaccharidosis_mps_iv_b Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B Supplemental_disease_name DISEASE_NAME:infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_3_mucopolysaccharidosis_mps_iv_b_gm1_gangliosidosis_type_2 Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2 Supplemental_disease_name DISEASE_NAME:infantile_gm1_gangliosidosis_mucopolysaccharidosis_mps_iv_b Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B Supplemental_disease_name DISEASE_NAME:infantile_gm1_gangliosidosis_mucopolysaccharidosis_mps_iv_b_gm1_gangliosidosis_type_3_gm1_gangliosidosis_type_2 Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 3;GM1 gangliosidosis type 2 Supplemental_disease_name DISEASE_NAME:infantile_hypophosphatasia_adult_hypophosphatasia_childhood_hypophosphatasia Infantile hypophosphatasia;Adult hypophosphatasia;Childhood hypophosphatasia Supplemental_disease_name DISEASE_NAME:infantile_hypotonia_oculomotor_anomalies_hyperkinetic_movements_developmental_delay_syndrome Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:infantile_liver_failure Infantile liver failure Supplemental_disease_name DISEASE_NAME:infantile_liver_failure_syndrome_2 Infantile liver failure syndrome 2 Supplemental_disease_name DISEASE_NAME:infantile_liver_failure_syndrome_2_short_stature_optic_atrophy_pelger_huët_anomaly_syndrome Infantile liver failure syndrome 2;Short stature-optic atrophy-Pelger-Huët anomaly syndrome Supplemental_disease_name DISEASE_NAME:infantile_liver_failure_syndrome_3 Infantile liver failure syndrome 3 Supplemental_disease_name DISEASE_NAME:infantile_myofibromatosis_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_basal_ganglia_calcification_idiopathic_4_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome Infantile myofibromatosis;Acroosteolysis-keloid-like lesions-premature aging syndrome;Basal ganglia calcification, idiopathic, 4;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Supplemental_disease_name DISEASE_NAME:infantile_myofibromatosis_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_basal_ganglia_calcification_idiopathic_4 Infantile myofibromatosis;Acroosteolysis-keloid-like lesions-premature aging syndrome;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Basal ganglia calcification, idiopathic, 4 Supplemental_disease_name DISEASE_NAME:infantile_myofibromatosis_basal_ganglia_calcification_idiopathic_4_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome Infantile myofibromatosis;Basal ganglia calcification, idiopathic, 4;Acroosteolysis-keloid-like lesions-premature aging syndrome;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Supplemental_disease_name DISEASE_NAME:infantile_myofibromatosis_basal_ganglia_calcification_idiopathic_4_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_acroosteolysis_keloid_like_lesions_premature_aging_syndrome Infantile myofibromatosis;Basal ganglia calcification, idiopathic, 4;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Acroosteolysis-keloid-like lesions-premature aging syndrome Supplemental_disease_name DISEASE_NAME:infantile_myofibromatosis_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_basal_ganglia_calcification_idiopathic_4 Infantile myofibromatosis;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Acroosteolysis-keloid-like lesions-premature aging syndrome;Basal ganglia calcification, idiopathic, 4 Supplemental_disease_name DISEASE_NAME:infantile_myofibromatosis_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_basal_ganglia_calcification_idiopathic_4_acroosteolysis_keloid_like_lesions_premature_aging_syndrome Infantile myofibromatosis;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Basal ganglia calcification, idiopathic, 4;Acroosteolysis-keloid-like lesions-premature aging syndrome Supplemental_disease_name DISEASE_NAME:infantile_nephronophthisis Infantile nephronophthisis Supplemental_disease_name DISEASE_NAME:infantile_nephrotic_syndrome Infantile Nephrotic syndrome Supplemental_disease_name DISEASE_NAME:infantile_neuroaxonal_dystrophy Infantile neuroaxonal dystrophy Supplemental_disease_name DISEASE_NAME:infantile_neuroaxonal_dystrophy_neurodegeneration_with_brain_iron_accumulation_2b Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B Supplemental_disease_name DISEASE_NAME:infantile_neuroaxonal_dystrophy_neurodegeneration_with_brain_iron_accumulation_2b_autosomal_recessive_parkinson_disease_14 Infantile neuroaxonal dystrophy;Neurodegeneration with brain iron accumulation 2B;Autosomal recessive Parkinson disease 14 Supplemental_disease_name DISEASE_NAME:infantile_nystagmus Infantile nystagmus Supplemental_disease_name DISEASE_NAME:infantile_nystagmus_with_foveal_hypoplasia Infantile nystagmus with foveal hypoplasia Supplemental_disease_name DISEASE_NAME:infantile_onset_ascending_hereditary_spastic_paralysis Infantile-onset ascending hereditary spastic paralysis Supplemental_disease_name DISEASE_NAME:infantile_onset_ascending_hereditary_spastic_paralysis_amyotrophic_lateral_sclerosis_type_2_juvenile_juvenile_primary_lateral_sclerosis Infantile-onset ascending hereditary spastic paralysis;Amyotrophic lateral sclerosis type 2, juvenile;Juvenile primary lateral sclerosis Supplemental_disease_name DISEASE_NAME:infantile_onset_generalized_dyskinesia_with_orofacial_involvement Infantile-onset generalized dyskinesia with orofacial involvement Supplemental_disease_name DISEASE_NAME:infantile_onset_generalized_dyskinesia_with_orofacial_involvement_striatal_degeneration_autosomal_dominant_2 Infantile-onset generalized dyskinesia with orofacial involvement;Striatal degeneration, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:infantile_onset_spinocerebellar_ataxia_perrault_syndrome_5 Infantile onset spinocerebellar ataxia;Perrault syndrome 5 Supplemental_disease_name DISEASE_NAME:infantile_onset_spinocerebellar_ataxia_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3_perrault_syndrome_5 Infantile onset spinocerebellar ataxia;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3;Perrault syndrome 5 Supplemental_disease_name DISEASE_NAME:infantile_onset_x_linked_spinal_muscular_atrophy_vexas_syndrome Infantile-onset X-linked spinal muscular atrophy;VEXAS syndrome Supplemental_disease_name DISEASE_NAME:infantile_or_childhood_onset_neurodegenerative_disease_global_developmental_delay_and_intellectual_disability Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability Supplemental_disease_name DISEASE_NAME:infantile_osteopetrosis Infantile osteopetrosis Supplemental_disease_name DISEASE_NAME:infantile_osteopetrosis_with_neuroaxonal_dysplasia Infantile osteopetrosis with neuroaxonal dysplasia Supplemental_disease_name DISEASE_NAME:infantile_parkinsonism_dystonia Infantile parkinsonism-dystonia Supplemental_disease_name DISEASE_NAME:infantile_spasms Infantile spasms Supplemental_disease_name DISEASE_NAME:infantile_spasms_microcephaly_hypoplasia_of_the_corpus_callosum_global_developmental_delay_pachygyria Infantile spasms;Microcephaly;Hypoplasia of the corpus callosum;Global developmental delay;Pachygyria Supplemental_disease_name DISEASE_NAME:infection_induced_acute_onset_axonal_neuropathy Infection-induced acute-onset axonal neuropathy Supplemental_disease_name DISEASE_NAME:infertility_associated_with_multi_tailed_spermatozoa_and_excessive_dna Infertility associated with multi-tailed spermatozoa and excessive DNA Supplemental_disease_name DISEASE_NAME:infertility_disorder Infertility disorder Supplemental_disease_name DISEASE_NAME:infertility_disorder_male_infertility Infertility disorder;Male infertility Supplemental_disease_name DISEASE_NAME:infiltrating_duct_carcinoma_of_breast Infiltrating duct carcinoma of breast Supplemental_disease_name DISEASE_NAME:inflammation Inflammation Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_10_susceptibility_to Inflammatory bowel disease 10, susceptibility to Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_14_susceptibility_to Inflammatory bowel disease 14, susceptibility to Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_17_protection_against Inflammatory bowel disease 17, protection against Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_17_psoriasis_7_susceptibility_to Inflammatory bowel disease 17;Psoriasis 7, susceptibility to Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_1_blau_syndrome Inflammatory bowel disease 1;Blau syndrome Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_1_blau_syndrome_yao_syndrome Inflammatory bowel disease 1;Blau syndrome;Yao syndrome Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_1_psoriatic_arthritis_susceptibility_to_blau_syndrome_yao_syndrome Inflammatory bowel disease 1;Psoriatic arthritis, susceptibility to;Blau syndrome;Yao syndrome Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_1_yao_syndrome_blau_syndrome Inflammatory bowel disease 1;Yao syndrome;Blau syndrome Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_25_hepatitis_b_virus_susceptibility_to Inflammatory bowel disease 25;Hepatitis B virus, susceptibility to Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_immunodeficiency_and_encephalopathy Inflammatory bowel disease, immunodeficiency, and encephalopathy Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_immunodeficiency_and_encephalopathy_cystic_fibrosis_diaphyseal_dysplasia Inflammatory bowel disease, immunodeficiency, and encephalopathy;Cystic fibrosis;Diaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:inflammatory_bowel_disease_infantile_ulcerative_colitis_31_autosomal_recessive Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive Supplemental_disease_name DISEASE_NAME:inflammatory_disease Inflammatory disease Supplemental_disease_name DISEASE_NAME:inflammatory_skin_and_bowel_disease Inflammatory skin and bowel disease Supplemental_disease_name DISEASE_NAME:inflammatory_skin_and_bowel_disease_neonatal_1 Inflammatory skin and bowel disease, neonatal, 1 Supplemental_disease_name DISEASE_NAME:inflammatory_skin_and_bowel_disease_neonatal_2 Inflammatory skin and bowel disease, neonatal, 2 Supplemental_disease_name DISEASE_NAME:inflammatory_skin_and_bowel_disease_neonatal_2_egfr_related_lung_cancer Inflammatory skin and bowel disease, neonatal, 2;EGFR-related lung cancer Supplemental_disease_name DISEASE_NAME:inflammatory_skin_and_bowel_disease_neonatal_2_lung_cancer Inflammatory skin and bowel disease, neonatal, 2;Lung cancer Supplemental_disease_name DISEASE_NAME:infltr8 INFLTR8 Supplemental_disease_name DISEASE_NAME:influenza_severe_susceptibility_to Influenza, severe, susceptibility to Supplemental_disease_name DISEASE_NAME:inha_related_disorder INHA-related disorder Supplemental_disease_name DISEASE_NAME:inherited_acute_myeloid_leukemia Inherited acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:inherited_aplastic_anemia Inherited aplastic anemia Supplemental_disease_name DISEASE_NAME:inherited_bleeding_disorder_platelet_type Inherited bleeding disorder, platelet-type Supplemental_disease_name DISEASE_NAME:inherited_bone_marrow_failure_syndrome Inherited bone marrow failure syndrome Supplemental_disease_name DISEASE_NAME:inherited_breast_cancer_and_ovarian_cancer Inherited breast cancer and ovarian cancer Supplemental_disease_name DISEASE_NAME:inherited_creutzfeldt_jakob_disease Inherited Creutzfeldt-Jakob disease Supplemental_disease_name DISEASE_NAME:inherited_distal_renal_tubular_acidosis Inherited distal renal tubular acidosis Supplemental_disease_name DISEASE_NAME:inherited_focal_segmental_glomerulosclerosis Inherited focal segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:inherited_genitourinary_tract_anomalies Inherited genitourinary tract anomalies Supplemental_disease_name DISEASE_NAME:inherited_glutathione_synthetase_deficiency Inherited glutathione synthetase deficiency Supplemental_disease_name DISEASE_NAME:inherited_hemoglobinopathy Inherited hemoglobinopathy Supplemental_disease_name DISEASE_NAME:inherited_immunodeficiency_diseases Inherited immunodeficiency diseases Supplemental_disease_name DISEASE_NAME:inherited_isolated_nail_anomaly Inherited isolated nail anomaly Supplemental_disease_name DISEASE_NAME:inherited_lipid_metabolism_disorder Inherited lipid metabolism disorder Supplemental_disease_name DISEASE_NAME:inherited_mmr_deficiency_lynch_syndrome Inherited MMR deficiency (Lynch syndrome) Supplemental_disease_name DISEASE_NAME:inherited_neurodegenerative_disorder Inherited neurodegenerative disorder Supplemental_disease_name DISEASE_NAME:inherited_obesity Inherited obesity Supplemental_disease_name DISEASE_NAME:inherited_obesity_obesity_due_to_pro_opiomelanocortin_deficiency Inherited obesity;Obesity due to pro-opiomelanocortin deficiency Supplemental_disease_name DISEASE_NAME:inherited_oocyte_maturation_defect Inherited oocyte maturation defect Supplemental_disease_name DISEASE_NAME:inherited_ovarian_cancer_without_breast_cancer Inherited ovarian cancer (without breast cancer) Supplemental_disease_name DISEASE_NAME:inherited_phaeochromocytoma_and_paraganglioma_excluding_nf1 Inherited phaeochromocytoma and paraganglioma excluding NF1 Supplemental_disease_name DISEASE_NAME:inherited_polyposis_and_early_onset_colorectal_cancer_germline_testing Inherited polyposis and early onset colorectal cancer - germline testing Supplemental_disease_name DISEASE_NAME:inherited_prekallikrein_deficiency Inherited prekallikrein deficiency Supplemental_disease_name DISEASE_NAME:inherited_primary_ovarian_failure Inherited primary ovarian failure Supplemental_disease_name DISEASE_NAME:inherited_prion_disease Inherited prion disease Supplemental_disease_name DISEASE_NAME:inherited_prostate_cancer Inherited prostate cancer Supplemental_disease_name DISEASE_NAME:inherited_renal_cancer Inherited renal cancer Supplemental_disease_name DISEASE_NAME:inherited_renal_tubular_disease Inherited renal tubular disease Supplemental_disease_name DISEASE_NAME:inherited_retinal_disease inherited retinal disease Supplemental_disease_name DISEASE_NAME:inherited_spastic_paresis Inherited spastic paresis Supplemental_disease_name DISEASE_NAME:inherited_susceptibility_to_asthma Inherited susceptibility to asthma Supplemental_disease_name DISEASE_NAME:inherited_susceptibility_to_asthma_intellectual_disability_autosomal_recessive_51 Inherited susceptibility to asthma;Intellectual disability, autosomal recessive 51 Supplemental_disease_name DISEASE_NAME:inherited_susceptibility_to_asthma_migraine_with_or_without_aura_susceptibility_to_1 Inherited susceptibility to asthma;Migraine with or without aura, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:inherited_susceptibility_to_mycobacterial_diseases Inherited susceptibility to mycobacterial diseases Supplemental_disease_name DISEASE_NAME:inip_related_disorder INIP-related disorder Supplemental_disease_name DISEASE_NAME:inner_ear_malformation Inner ear malformation Supplemental_disease_name DISEASE_NAME:ino80_related_disorder INO80-related disorder Supplemental_disease_name DISEASE_NAME:ino80_related_immunodeficiency INO80-related immunodeficiency Supplemental_disease_name DISEASE_NAME:inosine_triphosphatase_deficiency Inosine triphosphatase deficiency Supplemental_disease_name DISEASE_NAME:inosine_triphosphatase_deficiency_developmental_and_epileptic_encephalopathy_35 Inosine triphosphatase deficiency;Developmental and epileptic encephalopathy, 35 Supplemental_disease_name DISEASE_NAME:inosine_triphosphate_pyrophosphohydrolase_deficiency Inosine triphosphate pyrophosphohydrolase deficiency Supplemental_disease_name DISEASE_NAME:inpp5b_related_disorder INPP5B-related disorder Supplemental_disease_name DISEASE_NAME:inpp5e_related_disorder INPP5E-related disorder Supplemental_disease_name DISEASE_NAME:inpp5k_related_disorder INPP5K-related disorder Supplemental_disease_name DISEASE_NAME:inppl1_related_disorder INPPL1-related disorder Supplemental_disease_name DISEASE_NAME:ins_igf2_related_disorder INS-IGF2-related disorder Supplemental_disease_name DISEASE_NAME:ins_related_disorder INS-related disorder Supplemental_disease_name DISEASE_NAME:insl3_related_disorder INSL3-related disorder Supplemental_disease_name DISEASE_NAME:insomnia Insomnia Supplemental_disease_name DISEASE_NAME:insr_related_disorder INSR-related disorder Supplemental_disease_name DISEASE_NAME:insulin_dependent_diabetes_mellitus_secretory_diarrhea_syndrome Insulin-dependent diabetes mellitus secretory diarrhea syndrome Supplemental_disease_name DISEASE_NAME:insulin_dependent_diabetes_mellitus_secretory_diarrhea_syndrome_diabetes_mellitus_type_1 Insulin-dependent diabetes mellitus secretory diarrhea syndrome;Diabetes mellitus type 1 Supplemental_disease_name DISEASE_NAME:insulin_like_growth_factor_1_resistance Insulin-like growth factor 1 resistance Supplemental_disease_name DISEASE_NAME:insulin_like_growth_factor_ii_polymorphism INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM Supplemental_disease_name DISEASE_NAME:insulin_resistance_digenic INSULIN RESISTANCE, DIGENIC Supplemental_disease_name DISEASE_NAME:insulin_resistance_severe_digenic INSULIN RESISTANCE, SEVERE, DIGENIC Supplemental_disease_name DISEASE_NAME:insulin_resistance_susceptibility_to Insulin resistance, susceptibility to Supplemental_disease_name DISEASE_NAME:insulin_resistant_diabetes_mellitus Insulin-resistant diabetes mellitus Supplemental_disease_name DISEASE_NAME:insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans Insulin-resistant diabetes mellitus AND acanthosis nigricans Supplemental_disease_name DISEASE_NAME:insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans_hyperinsulinism_due_to_insr_deficiency_leprechaunism_syndrome_rabson_mendenhall_syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans;Hyperinsulinism due to INSR deficiency;Leprechaunism syndrome;Rabson-Mendenhall syndrome Supplemental_disease_name DISEASE_NAME:insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans_hyperinsulinism_due_to_insr_deficiency_rabson_mendenhall_syndrome_leprechaunism_syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans;Hyperinsulinism due to INSR deficiency;Rabson-Mendenhall syndrome;Leprechaunism syndrome Supplemental_disease_name DISEASE_NAME:insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans_rabson_mendenhall_syndrome_leprechaunism_syndrome_hyperinsulinism_due_to_insr_deficiency Insulin-resistant diabetes mellitus AND acanthosis nigricans;Rabson-Mendenhall syndrome;Leprechaunism syndrome;Hyperinsulinism due to INSR deficiency Supplemental_disease_name DISEASE_NAME:insulinomatosis Insulinomatosis Supplemental_disease_name DISEASE_NAME:insulinomatosis_and_diabetes_mellitus Insulinomatosis and diabetes mellitus Supplemental_disease_name DISEASE_NAME:intellectual_deficiency intellectual deficiency Supplemental_disease_name DISEASE_NAME:intellectual_deficiency_ataxia intellectual deficiency;Ataxia Supplemental_disease_name DISEASE_NAME:intellectual_deficiency_ataxia_epilepsy intellectual deficiency;Ataxia;Epilepsy Supplemental_disease_name DISEASE_NAME:intellectual_deficiency_autism_severe intellectual deficiency;Autism, severe Supplemental_disease_name DISEASE_NAME:intellectual_deficiency_dysmorphy intellectual deficiency;dysmorphy Supplemental_disease_name DISEASE_NAME:intellectual_deficiency_epilepsy intellectual deficiency;Epilepsy Supplemental_disease_name DISEASE_NAME:intellectual_deficiency_obesity intellectual deficiency;Obesity Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder Intellectual developmental disorder Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_50_with_behavioral_abnormalities_mrd50 intellectual developmental disorder-50 with behavioral abnormalities (MRD50) Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_59 Intellectual developmental disorder 59 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_60_with_seizures Intellectual developmental disorder 60 with seizures Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_61 Intellectual developmental disorder 61 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_62 Intellectual developmental disorder 62 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_and_retinitis_pigmentosa_iddrp Intellectual developmental disorder and retinitis pigmentosa; IDDRP Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_63_with_macrocephaly Intellectual developmental disorder, autosomal dominant 63, with macrocephaly Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_63_with_macrocephaly_micrognathia_recurrent_infections_behavioral_abnormalities_mild_intellectual_disability_syndrome Intellectual developmental disorder, autosomal dominant 63, with macrocephaly;Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_64 Intellectual developmental disorder, autosomal dominant 64 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_65 Intellectual developmental disorder, autosomal dominant 65 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_66 Intellectual developmental disorder, autosomal dominant 66 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_67 Intellectual developmental disorder, autosomal dominant 67 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_67_intellectual_developmental_disorder_autosomal_recessive_76 Intellectual developmental disorder, autosomal dominant 67;Intellectual developmental disorder, autosomal recessive 76 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_68 Intellectual developmental disorder, autosomal dominant 68 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_68_dystonia_28_childhood_onset Intellectual developmental disorder, autosomal dominant 68;Dystonia 28, childhood-onset Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_69 Intellectual developmental disorder, autosomal dominant 69 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_70 Intellectual developmental disorder, autosomal dominant 70 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_71_with_behavioral_abnormalities Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_72 Intellectual developmental disorder, autosomal dominant 72 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_73 Intellectual developmental disorder, autosomal dominant 73 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_74 Intellectual developmental disorder, autosomal dominant 74 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_75 Intellectual developmental disorder, autosomal dominant 75 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_76 Intellectual developmental disorder, autosomal dominant 76 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_77 Intellectual developmental disorder, autosomal dominant 77 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_dominant_78 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 78 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_67 Intellectual developmental disorder, autosomal recessive 67 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_67_neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies Intellectual developmental disorder, autosomal recessive 67;Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_68 Intellectual developmental disorder, autosomal recessive 68 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_69 Intellectual developmental disorder, autosomal recessive 69 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_70 Intellectual developmental disorder, autosomal recessive 70 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_71 Intellectual developmental disorder, autosomal recessive 71 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_72 Intellectual developmental disorder, autosomal recessive 72 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_73 Intellectual developmental disorder, autosomal recessive 73 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_74 Intellectual developmental disorder, autosomal recessive 74 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_74_cortical_dysplasia_complex_with_other_brain_malformations_10 Intellectual developmental disorder, autosomal recessive 74;Cortical dysplasia, complex, with other brain malformations 10 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_75_with_neuropsychiatric_features_and_variant_lissencephaly Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_76 Intellectual developmental disorder, autosomal recessive 76 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_77 Intellectual developmental disorder, autosomal recessive 77 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_77_joubert_syndrome_25 Intellectual developmental disorder, autosomal recessive 77;Joubert syndrome 25 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_78 Intellectual developmental disorder, autosomal recessive 78 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_78_hypogonadotropic_hypogonadism_14_with_or_without_anosmia Intellectual developmental disorder, autosomal recessive 78;Hypogonadotropic hypogonadism 14 with or without anosmia Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_78_hypogonadotropic_hypogonadism_14_with_or_without_anosmia_hypogonadotropic_hypogonadism_7_with_or_without_anosmia Intellectual developmental disorder, autosomal recessive 78;Hypogonadotropic hypogonadism 14 with or without anosmia;Hypogonadotropic hypogonadism 7 with or without anosmia Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_79 Intellectual developmental disorder, autosomal recessive 79 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_80_with_variant_lissencephaly Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_81 Intellectual developmental disorder, autosomal recessive 81 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_82 Intellectual developmental disorder, autosomal recessive 82 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_83 Intellectual developmental disorder, autosomal recessive 83 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_autosomal_recessive_84 Intellectual developmental disorder, autosomal recessive 84 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_stocco_dos_santos_type Intellectual Developmental Disorder, Stocco Dos Santos Type Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_autism_and_dysmorphic_facies Intellectual developmental disorder with autism and dysmorphic facies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_autism_and_macrocephaly Intellectual developmental disorder with autism and macrocephaly Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_autism_and_speech_delay Intellectual developmental disorder with autism and speech delay Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_autistic_features_and_language_delay_with_seizures INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_autistic_features_and_language_delay_without_seizures INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_cardiac_defects_and_dysmorphic_facies Intellectual developmental disorder with cardiac defects and dysmorphic facies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_dysmorphic_facies_and_ptosis Intellectual developmental disorder with dysmorphic facies and ptosis Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_dysmorphic_facies_seizures_and_distal_limb_anomalies Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_epilepsy_behavioral_abnormalities_and_coarse_facies Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_gastrointestinal_difficulties_and_high_pain_threshold Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_gastrointestinal_difficulties_and_high_pain_threshold_familial_cancer_of_breast Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_hypertelorism_and_distinctive_facies Intellectual developmental disorder with hypertelorism and distinctive facies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_hypotonia_and_behavioral_abnormalities Intellectual developmental disorder with hypotonia and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_impaired_language_and_dysmorphic_facies Intellectual developmental disorder with impaired language and dysmorphic facies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_language_impairment_and_autistic_features INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_language_impairment_and_early_onset_dopa_responsive_dystonia_parkinsonism Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_macrocephaly_seizures_and_speech_delay Intellectual developmental disorder with macrocephaly, seizures, and speech delay Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_microcephaly_and_with_or_without_ocular_malformations_or_hypogonadotropic_hypogonadism Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_muscle_tone_abnormalities_and_distal_skeletal_defects Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_nasal_speech_dysmorphic_facies_and_variable_skeletal_anomalies Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_neuropsychiatric_features Intellectual developmental disorder with neuropsychiatric features Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_or_without_epilepsy_or_cerebellar_ataxia Intellectual developmental disorder with or without epilepsy or cerebellar ataxia Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_or_without_peripheral_neuropathy Intellectual developmental disorder with or without peripheral neuropathy Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_paroxysmal_dyskinesia_or_seizures Intellectual developmental disorder with paroxysmal dyskinesia or seizures Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_polymicrogyria_and_seizures Intellectual developmental disorder with polymicrogyria and seizures Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_poor_growth_and_with_or_without_seizures_or_ataxia Intellectual developmental disorder with poor growth and with or without seizures or ataxia Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_seizures_and_language_delay Intellectual developmental disorder with seizures and language delay Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_severe_speech_and_ambulation_defects Intellectual developmental disorder with severe speech and ambulation defects Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_short_stature_and_variable_skeletal_anomalies Intellectual developmental disorder with short stature and variable skeletal anomalies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_speech_delay_and_axonal_peripheral_neuropathy Intellectual developmental disorder with speech delay and axonal peripheral neuropathy Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_speech_delay_autism_and_dysmorphic_facies Intellectual developmental disorder with speech delay, autism, and dysmorphic facies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_speech_delay_dysmorphic_facies_and_t_cell_abnormalities Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_with_speech_delay_dysmorphic_facies_and_t_cell_abnormalities_immunodeficiency_49 Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities;Immunodeficiency 49 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_108 Intellectual developmental disorder, X-linked 108 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_110 Intellectual developmental disorder, X-linked 110 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_110_developmental_and_epileptic_encephalopathy_90 Intellectual developmental disorder, X-linked 110;Developmental and epileptic encephalopathy, 90 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_111 Intellectual developmental disorder, X-linked 111 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_112 Intellectual developmental disorder, X-linked 112 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_113 Intellectual developmental disorder, X-linked 113 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_114 Intellectual developmental disorder, X-linked 114 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_syndromic_37 Intellectual developmental disorder, X-linked, syndromic 37 Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_syndromic_hackmann_di_donato_type Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_syndromic_pilorge_type Intellectual developmental disorder, X-linked, syndromic, Pilorge type Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_syndromic_with_pigmentary_mosaicism_and_coarse_facies Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies Supplemental_disease_name DISEASE_NAME:intellectual_developmental_disorder_x_linked_syndromic_with_pigmentary_mosaicism_and_coarse_facies_renal_cell_carcinoma_xp11_associated Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies;Renal cell carcinoma, Xp11-associated Supplemental_disease_name DISEASE_NAME:intellectual_disability_abnormal_facial_shape Intellectual disability;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:intellectual_disability_abnormal_facial_shape_gingival_overgrowth_generalized_hypertrichosis_seizure Intellectual disability;Abnormal facial shape;Gingival overgrowth;Generalized hypertrichosis;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_abnormal_facial_shape_seizure Intellectual disability;Abnormal facial shape;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_abnormal_heart_morphology_abnormal_facial_shape_specific_learning_disability_atypical_behavior Intellectual disability;Abnormal heart morphology;Abnormal facial shape;Specific learning disability;Atypical behavior Supplemental_disease_name DISEASE_NAME:intellectual_disability_abnormality_of_the_outer_ear Intellectual disability;Abnormality of the outer ear Supplemental_disease_name DISEASE_NAME:intellectual_disability_and_myopathy_syndrome_atrial_fibrillation_familial_12_hypertrichotic_osteochondrodysplasia_cantu_type_dilated_cardiomyopathy_1o Intellectual disability and myopathy syndrome;Atrial fibrillation, familial, 12;Hypertrichotic osteochondrodysplasia Cantu type;Dilated cardiomyopathy 1O Supplemental_disease_name DISEASE_NAME:intellectual_disability_and_myopathy_syndrome_dilated_cardiomyopathy_1o_atrial_fibrillation_familial_12_hypertrichotic_osteochondrodysplasia_cantu_type Intellectual disability and myopathy syndrome;Dilated cardiomyopathy 1O;Atrial fibrillation, familial, 12;Hypertrichotic osteochondrodysplasia Cantu type Supplemental_disease_name DISEASE_NAME:intellectual_disability_and_myopathy_syndrome_dilated_cardiomyopathy_1o_hypertrichotic_osteochondrodysplasia_cantu_type_atrial_fibrillation_familial_12 Intellectual disability and myopathy syndrome;Dilated cardiomyopathy 1O;Hypertrichotic osteochondrodysplasia Cantu type;Atrial fibrillation, familial, 12 Supplemental_disease_name DISEASE_NAME:intellectual_disability_and_myopathy_syndrome_hypertrichotic_osteochondrodysplasia_cantu_type_atrial_fibrillation_familial_12 Intellectual disability and myopathy syndrome;Hypertrichotic osteochondrodysplasia Cantu type;Atrial fibrillation, familial, 12 Supplemental_disease_name DISEASE_NAME:intellectual_disability_and_myopathy_syndrome_hypertrichotic_osteochondrodysplasia_cantu_type_dilated_cardiomyopathy_1o_atrial_fibrillation_familial_12 Intellectual disability and myopathy syndrome;Hypertrichotic osteochondrodysplasia Cantu type;Dilated cardiomyopathy 1O;Atrial fibrillation, familial, 12 Supplemental_disease_name DISEASE_NAME:intellectual_disability_and_seizures Intellectual disability and seizures Supplemental_disease_name DISEASE_NAME:intellectual_disability_anosmia_abnormality_of_the_skeletal_system_hypogonadotropic_hypogonadism_7_with_or_without_anosmia Intellectual disability;Anosmia;Abnormality of the skeletal system;Hypogonadotropic hypogonadism 7 with or without anosmia Supplemental_disease_name DISEASE_NAME:intellectual_disability_anterior_maxillary_protrusion_and_strabismus Intellectual disability, anterior maxillary protrusion, and strabismus Supplemental_disease_name DISEASE_NAME:intellectual_disability_atrophy_degeneration_affecting_the_central_nervous_system_microcephaly_dystonic_disorder_scoliosis Intellectual disability;Atrophy/Degeneration affecting the central nervous system;Microcephaly;Dystonic disorder;Scoliosis Supplemental_disease_name DISEASE_NAME:intellectual_disability_atrophy_degeneration_affecting_the_central_nervous_system_seizure Intellectual disability;Atrophy/Degeneration affecting the central nervous system;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_attention_deficit_hyperactivity_disorder_global_developmental_delay_autistic_behavior Intellectual disability;Attention deficit hyperactivity disorder;Global developmental delay;Autistic behavior Supplemental_disease_name DISEASE_NAME:intellectual_disability_autistic_behavior Intellectual disability;Autistic behavior Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant Intellectual disability, autosomal dominant Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_1 Intellectual disability, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_10 Intellectual disability, autosomal dominant 10 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_11 Intellectual disability, autosomal dominant 11 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_13 Intellectual disability, autosomal dominant 13 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_13_autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures Intellectual disability, autosomal dominant 13;Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_13_autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures_charcot_marie_tooth_disease_axonal_type_2o Intellectual disability, autosomal dominant 13;Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures;Charcot-Marie-Tooth disease axonal type 2O Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_13_charcot_marie_tooth_disease_axonal_type_2o_autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures Intellectual disability, autosomal dominant 13;Charcot-Marie-Tooth disease axonal type 2O;Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_14 Intellectual disability, autosomal dominant 14 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_15 Intellectual disability, autosomal dominant 15 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_15_smarcb1_related_schwannomatosis_rhabdoid_tumor_predisposition_syndrome_1 Intellectual disability, autosomal dominant 15;SMARCB1-related schwannomatosis;Rhabdoid tumor predisposition syndrome 1 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_16 Intellectual disability, autosomal dominant 16 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_16_otosclerosis_12_rhabdoid_tumor_predisposition_syndrome_2 Intellectual disability, autosomal dominant 16;Otosclerosis 12;Rhabdoid tumor predisposition syndrome 2 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_16_rhabdoid_tumor_predisposition_syndrome_2 Intellectual disability, autosomal dominant 16;Rhabdoid tumor predisposition syndrome 2 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_16_rhabdoid_tumor_predisposition_syndrome_2_otosclerosis_12 Intellectual disability, autosomal dominant 16;Rhabdoid tumor predisposition syndrome 2;Otosclerosis 12 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_2 Intellectual disability, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_22 Intellectual disability, autosomal dominant 22 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_24 Intellectual disability, autosomal dominant 24 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_24_intellectual_disability_epilepsy_extrapyramidal_syndrome Intellectual disability, autosomal dominant 24;Intellectual disability-epilepsy-extrapyramidal syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_29 Intellectual disability, autosomal dominant 29 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_29_schinzel_giedion_syndrome Intellectual disability, autosomal dominant 29;Schinzel-Giedion syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_3 Intellectual disability, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_30 Intellectual disability, autosomal dominant 30 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_33 Intellectual disability, autosomal dominant 33 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_33_ventricular_fibrillation_paroxysmal_familial_2 Intellectual disability, autosomal dominant 33;Ventricular fibrillation, paroxysmal familial, 2 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_34 Intellectual disability, autosomal dominant 34 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_38 Intellectual disability, autosomal dominant 38 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_38_developmental_and_epileptic_encephalopathy_33 Intellectual disability, autosomal dominant 38;Developmental and epileptic encephalopathy, 33 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_39 Intellectual disability, autosomal dominant 39 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_39_chromosome_2p25_3_deletion_syndrome Intellectual disability, autosomal dominant 39;Chromosome 2p25.3 deletion syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_4 Intellectual disability, autosomal dominant 4 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_40 Intellectual disability, autosomal dominant 40 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_41 Intellectual disability, autosomal dominant 41 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_41_pierpont_syndrome Intellectual disability, autosomal dominant 41;Pierpont syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_42 Intellectual disability, autosomal dominant 42 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_43 Intellectual disability, autosomal dominant 43 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_45 Intellectual disability, autosomal dominant 45 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_46 Intellectual disability, autosomal dominant 46 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_47 Intellectual disability, autosomal dominant 47 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_48 Intellectual disability, autosomal dominant 48 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_5 Intellectual disability, autosomal dominant 5 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_50 Intellectual disability, autosomal dominant 50 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_51 Intellectual disability, autosomal dominant 51 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_52 Intellectual disability, autosomal dominant 52 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_53 Intellectual disability, autosomal dominant 53 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_53_intellectual_disability_autosomal_recessive_63 Intellectual disability, autosomal dominant 53;Intellectual disability, autosomal recessive 63 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_54 Intellectual disability, autosomal dominant 54 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_55_with_seizures Intellectual disability, autosomal dominant 55, with seizures Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_56 Intellectual disability, autosomal dominant 56 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_57 Intellectual disability, autosomal dominant 57 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_58 Intellectual disability, autosomal dominant 58 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_5_infantile_epileptic_dyskinetic_encephalopathy Intellectual disability, autosomal dominant 5;Infantile epileptic dyskinetic encephalopathy Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_6 Intellectual disability, autosomal dominant 6 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_6_developmental_and_epileptic_encephalopathy_27 Intellectual disability, autosomal dominant 6;Developmental and epileptic encephalopathy, 27 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_9 Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_9_hereditary_spastic_paraplegia_30 Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_9_hereditary_spastic_paraplegia_30_neuropathy_hereditary_sensory_type_2c Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_9_hereditary_spastic_paraplegia_30_neuropathy_hereditary_sensory_type_2c_spastic_paraplegia_30b_autosomal_recessive Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Spastic paraplegia 30B, autosomal recessive Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_craniosynostosis_syndrome Intellectual disability, autosomal dominant;Craniosynostosis syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_1 Intellectual disability, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_12 Intellectual disability, autosomal recessive 12 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_12_developmental_and_epileptic_encephalopathy_15 Intellectual disability, autosomal recessive 12;Developmental and epileptic encephalopathy, 15 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_13 Intellectual disability, autosomal recessive 13 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_14 Intellectual disability, autosomal recessive 14 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_18 Intellectual disability, autosomal recessive 18 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_2 Intellectual disability, autosomal recessive 2 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_24 Intellectual disability, autosomal recessive 24 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_27 Intellectual disability, autosomal recessive 27 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_3 Intellectual disability, autosomal recessive 3 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_34 Intellectual disability, autosomal recessive 34 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_42 Intellectual disability, autosomal recessive 42 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_43 Intellectual disability, autosomal recessive 43 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_44 Intellectual disability, autosomal recessive 44 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_45 Intellectual disability, autosomal recessive 45 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_46 Intellectual disability, autosomal recessive 46 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_47 Intellectual disability, autosomal recessive 47 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_5 Intellectual disability, autosomal recessive 5 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_50 Intellectual disability, autosomal recessive 50 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_51 Intellectual disability, autosomal recessive 51 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_51_inherited_susceptibility_to_asthma Intellectual disability, autosomal recessive 51;Inherited susceptibility to asthma Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_52 Intellectual disability, autosomal recessive 52 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_53 Intellectual disability, autosomal recessive 53 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_54 Intellectual disability, autosomal recessive 54 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_56 Intellectual disability, autosomal recessive 56 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_57 Intellectual disability, autosomal recessive 57 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_58 Intellectual disability, autosomal recessive 58 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_59 Intellectual disability, autosomal recessive 59 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_6 Intellectual disability, autosomal recessive 6 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_60 Intellectual disability, autosomal recessive 60 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_61 Intellectual disability, autosomal recessive 61 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_63 Intellectual disability, autosomal recessive 63 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_64 Intellectual disability, autosomal recessive 64 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_65 Intellectual disability, autosomal recessive 65 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_66 Intellectual disability, autosomal recessive 66 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_6_neurodevelopmental_disorder_with_impaired_language_and_ataxia_and_with_or_without_seizures Intellectual disability, autosomal recessive 6;Neurodevelopmental disorder with impaired language and ataxia and with or without seizures Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_7 Intellectual disability, autosomal recessive 7 Supplemental_disease_name DISEASE_NAME:intellectual_disability_blepharophimosis Intellectual disability;Blepharophimosis Supplemental_disease_name DISEASE_NAME:intellectual_disability_cardiac_anomalies_short_stature_joint_laxity_syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_cask_related_x_linked Intellectual disability, CASK-related, X-linked Supplemental_disease_name DISEASE_NAME:intellectual_disability_cataracts_calcified_pinnae_myopathy_syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_cerebellar_atrophy Intellectual disability;Cerebellar atrophy Supplemental_disease_name DISEASE_NAME:intellectual_disability_cerebral_palsy Intellectual disability;Cerebral palsy Supplemental_disease_name DISEASE_NAME:intellectual_disability_cerebral_palsy_seizure Intellectual disability;Cerebral palsy;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_congenital_cerebellar_hypoplasia_rod_cone_dystrophy Intellectual disability;Congenital cerebellar hypoplasia;Rod-cone dystrophy Supplemental_disease_name DISEASE_NAME:intellectual_disability_craniodigital_syndrome Intellectual disability-craniodigital syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_delayed_speech_and_language_development_anterior_creases_of_earlobe_glabellar_hemangioma_strabismus Intellectual disability;Delayed speech and language development;Anterior creases of earlobe;Glabellar hemangioma;Strabismus Supplemental_disease_name DISEASE_NAME:intellectual_disability_delayed_speech_and_language_development_global_developmental_delay Intellectual disability;Delayed speech and language development;Global developmental delay Supplemental_disease_name DISEASE_NAME:intellectual_disability_delayed_speech_and_language_development_global_developmental_delay_neonatal_hypotonia_sleep_apnea Intellectual disability;Delayed speech and language development;Global developmental delay;Neonatal hypotonia;Sleep apnea Supplemental_disease_name DISEASE_NAME:intellectual_disability_delayed_speech_and_language_development_kyphoscoliosis_hypertelorism_severe_global_developmental_delay Intellectual disability;Delayed speech and language development;Kyphoscoliosis;Hypertelorism;Severe global developmental delay Supplemental_disease_name DISEASE_NAME:intellectual_disability_developmental_delay Intellectual disability;Developmental delay Supplemental_disease_name DISEASE_NAME:intellectual_disability_developmental_delay_mild_facial_and_digital_morphological_abnormalities Intellectual disability;Developmental delay;Mild facial and digital morphological abnormalities Supplemental_disease_name DISEASE_NAME:intellectual_disability_eeg_abnormality_hypotonia_epileptic_encephalopathy Intellectual disability;EEG abnormality;Hypotonia;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:intellectual_disability_epilepsy_congenital_anomaly_of_face Intellectual disability;Epilepsy;Congenital anomaly of face Supplemental_disease_name DISEASE_NAME:intellectual_disability_epilepsy_dysmorphic_features Intellectual disability;Epilepsy;Dysmorphic features Supplemental_disease_name DISEASE_NAME:intellectual_disability_epilepsy_extrapyramidal_syndrome Intellectual disability-epilepsy-extrapyramidal syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_epilepsy_extrapyramidal_syndrome_intellectual_disability_autosomal_dominant_24 Intellectual disability-epilepsy-extrapyramidal syndrome;Intellectual disability, autosomal dominant 24 Supplemental_disease_name DISEASE_NAME:intellectual_disability_epileptic_encephalopathy Intellectual disability;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:intellectual_disability_facial_dysmorphism_syndrome_due_to_setd5_haploinsufficiency Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Supplemental_disease_name DISEASE_NAME:intellectual_disability_focal_onset_seizure Intellectual disability;Focal-onset seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_fra12a_type Intellectual disability, FRA12A type Supplemental_disease_name DISEASE_NAME:intellectual_disability_generalized_epilepsy_with_atypical_absence_and_tonic_myoclonic_seizures_tremor Intellectual disability;generalized epilepsy with atypical absence and tonic/myoclonic seizures;Tremor Supplemental_disease_name DISEASE_NAME:intellectual_disability_generalized_epilepsy_with_atypical_absence_seizures_tremor Intellectual disability;generalized epilepsy with atypical absence seizures;Tremor Supplemental_disease_name DISEASE_NAME:intellectual_disability_global_developmental_delay Intellectual disability;Global developmental delay Supplemental_disease_name DISEASE_NAME:intellectual_disability_global_developmental_delay_atypical_behavior_delayed_speech_and_language_development Intellectual disability;Global developmental delay;Atypical behavior;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:intellectual_disability_global_developmental_delay_bradykinesia_motor_tics Intellectual disability;Global developmental delay;Bradykinesia;Motor tics Supplemental_disease_name DISEASE_NAME:intellectual_disability_global_developmental_delay_cleft_palate Intellectual disability;Global developmental delay;Cleft palate Supplemental_disease_name DISEASE_NAME:intellectual_disability_global_developmental_delay_seizure Intellectual disability;Global developmental delay;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_global_developmental_delay_short_stature_delayed_speech_and_language_development_brain_imaging_abnormality Intellectual disability;Global developmental delay;Short stature;Delayed speech and language development;Brain imaging abnormality Supplemental_disease_name DISEASE_NAME:intellectual_disability_hirsutism Intellectual disability;Hirsutism Supplemental_disease_name DISEASE_NAME:intellectual_disability_hypogonadism Intellectual disability;Hypogonadism Supplemental_disease_name DISEASE_NAME:intellectual_disability_hypotonia_spasticity_sleep_disorder_syndrome Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_hypotonia_tall_stature Intellectual disability;Hypotonia;Tall stature Supplemental_disease_name DISEASE_NAME:intellectual_disability_hypotonic_facies_syndrome_x_linked Intellectual disability-hypotonic facies syndrome, X-linked Supplemental_disease_name DISEASE_NAME:intellectual_disability_hypotonic_facies_syndrome_x_linked_1 Intellectual disability-hypotonic facies syndrome, X-linked, 1 Supplemental_disease_name DISEASE_NAME:intellectual_disability_hypotonic_facies_syndrome_x_linked_1_acquired_hemoglobin_h_disease_alpha_thalassemia_x_linked_intellectual_disability_syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1;Acquired hemoglobin H disease;Alpha thalassemia-X-linked intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_hypotonic_facies_syndrome_x_linked_1_alpha_thalassemia_x_linked_intellectual_disability_syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1;Alpha thalassemia-X-linked intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_hypotonic_facies_syndrome_x_linked_1_alpha_thalassemia_x_linked_intellectual_disability_syndrome_acquired_hemoglobin_h_disease Intellectual disability-hypotonic facies syndrome, X-linked, 1;Alpha thalassemia-X-linked intellectual disability syndrome;Acquired hemoglobin H disease Supplemental_disease_name DISEASE_NAME:intellectual_disability_involuntary_movements Intellectual disability;Involuntary movements Supplemental_disease_name DISEASE_NAME:intellectual_disability_juvenile_myoclonic_epilepsy Intellectual disability;Juvenile myoclonic epilepsy Supplemental_disease_name DISEASE_NAME:intellectual_disability_juvenile_onset_progressive_generalized_dystonia_cerebellar_atrophy Intellectual disability;Juvenile-onset progressive generalized dystonia;Cerebellar atrophy Supplemental_disease_name DISEASE_NAME:intellectual_disability_kyphosis_atrophy_degeneration_affecting_the_central_nervous_system Intellectual disability;Kyphosis;Atrophy/Degeneration affecting the central nervous system Supplemental_disease_name DISEASE_NAME:intellectual_disability_lower_limb_spasticity_seizure Intellectual disability;Lower limb spasticity;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_macrocephaly Intellectual disability;Macrocephaly Supplemental_disease_name DISEASE_NAME:intellectual_disability_magnetic_resonance_imaging_of_brain_abnormal Intellectual disability;Magnetic resonance imaging of brain abnormal Supplemental_disease_name DISEASE_NAME:intellectual_disability_microcephaly_absent_or_delayed_speech_development_deeply_set_eye_feeding_difficulties Intellectual disability;Microcephaly;Absent or delayed speech development;Deeply set eye;Feeding difficulties Supplemental_disease_name DISEASE_NAME:intellectual_disability_microcephaly_strabismus_behavioral_abnormalities_syndrome Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_moderate_global_developmental_delay_seizure Intellectual disability;Moderate global developmental delay;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_motor_delay_atypical_behavior_delayed_speech_and_language_development_global_developmental_delay Intellectual disability;Motor delay;Atypical behavior;Delayed speech and language development;Global developmental delay Supplemental_disease_name DISEASE_NAME:intellectual_disability_neonatal_hypotonia_global_developmental_delay_delayed_speech_and_language_development_seizure Intellectual disability;Neonatal hypotonia;Global developmental delay;Delayed speech and language development;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_neurodevelopmental_abnormality Intellectual disability;Neurodevelopmental abnormality Supplemental_disease_name DISEASE_NAME:intellectual_disability_neurodevelopmental_defects_and_developmental_delay_with_46_xy_gonadal_dysgenesis Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis Supplemental_disease_name DISEASE_NAME:intellectual_disability_neurodevelopmental_delay Intellectual disability;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:intellectual_disability_neurodevelopmental_delay_periodic_paralysis Intellectual disability;Neurodevelopmental delay;Periodic paralysis Supplemental_disease_name DISEASE_NAME:intellectual_disability_neurodevelopmental_delay_seizure Intellectual disability;Neurodevelopmental delay;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_obesity_brain_malformations_facial_dysmorphism_syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_optic_atrophy Intellectual disability;Optic atrophy Supplemental_disease_name DISEASE_NAME:intellectual_disability_seizure Intellectual disability;Seizure Supplemental_disease_name DISEASE_NAME:intellectual_disability_seizure_developmental_delay Intellectual disability;Seizure;Developmental delay Supplemental_disease_name DISEASE_NAME:intellectual_disability_seizure_microcephaly Intellectual disability;Seizure;Microcephaly Supplemental_disease_name DISEASE_NAME:intellectual_disability_seizures_abnormal_gait_and_distinctive_facial_features Intellectual disability, seizures, abnormal gait and distinctive facial features Supplemental_disease_name DISEASE_NAME:intellectual_disability_severe_global_developmental_delay_hyperintensity_of_cerebral_white_matter_on_mri Intellectual disability;Severe global developmental delay;Hyperintensity of cerebral white matter on MRI Supplemental_disease_name DISEASE_NAME:intellectual_disability_short_stature Intellectual disability;Short stature Supplemental_disease_name DISEASE_NAME:intellectual_disability_short_stature_facial_anomalies_and_joint_dislocations Intellectual disability, short stature, facial anomalies, and joint dislocations Supplemental_disease_name DISEASE_NAME:intellectual_disability_short_stature_neurodevelopmental_delay_microcephaly_unilateral_renal_agenesis Intellectual disability;Short stature;Neurodevelopmental delay;Microcephaly;Unilateral renal agenesis Supplemental_disease_name DISEASE_NAME:intellectual_disability_spasticity Intellectual disability;Spasticity Supplemental_disease_name DISEASE_NAME:intellectual_disability_strabismus_syndrome Intellectual disability-strabismus syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_syndrome_due_to_a_dyrk1a_point_mutation Intellectual disability syndrome due to a DYRK1A point mutation Supplemental_disease_name DISEASE_NAME:intellectual_disability_vanishing_white_matter_disease_hypotonia Intellectual disability;Vanishing white matter disease;Hypotonia Supplemental_disease_name DISEASE_NAME:intellectual_disability_wide_anterior_fontanel Intellectual disability;Wide anterior fontanel Supplemental_disease_name DISEASE_NAME:intellectual_disability_with_episodic_ataxia_and_congenital_arthrogryposis Intellectual disability with episodic ataxia and congenital arthrogryposis Supplemental_disease_name DISEASE_NAME:intellectual_disability_with_multiple_congenital_anomalies Intellectual Disability with multiple congenital anomalies Supplemental_disease_name DISEASE_NAME:intellectual_disability_with_muscular_spams Intellectual disability with muscular spams Supplemental_disease_name DISEASE_NAME:intellectual_disability_with_severe_speech_impairment intellectual disability with severe speech impairment Supplemental_disease_name DISEASE_NAME:intellectual_disability_without_epilepsy Intellectual disability without epilepsy Supplemental_disease_name DISEASE_NAME:intellectual_disability_wolff_type Intellectual disability, Wolff type Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_1 Intellectual disability, X-linked 1 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_100 Intellectual disability, X-linked 100 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_101 Intellectual disability, X-linked 101 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_101_intellectual_disability_x_linked_99 Intellectual disability, X-linked 101;Intellectual disability, X-linked 99 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_102 Intellectual disability, X-linked 102 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_102_cerebellar_vermis_hypoplasia Intellectual disability, X-linked 102;Cerebellar vermis hypoplasia Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_103 Intellectual disability, X-linked 103 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_104 Intellectual disability, X-linked 104 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_105 Intellectual disability, X-linked 105 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_106 Intellectual disability, X-linked 106 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_107 Intellectual disability, X-linked 107 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_19 Intellectual disability, X-linked 19 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_19_coffin_lowry_syndrome Intellectual disability, X-linked 19;Coffin-Lowry syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_21 Intellectual disability, X-linked 21 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_30 Intellectual disability, X-linked 30 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_41 Intellectual disability, X-linked 41 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_41_immunodeficiency_47 Intellectual disability, X-linked 41;Immunodeficiency 47 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_45 Intellectual disability, X-linked 45 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_46 Intellectual disability, X-linked 46 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_49 Intellectual disability, X-linked 49 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_50 Intellectual disability, X-linked 50 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_50_epilepsy_x_linked_1_with_variable_learning_disabilities_and_behavior_disorders Intellectual disability, X-linked 50;Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_58 Intellectual disability, X-linked 58 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_61 Intellectual disability, X-linked 61 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_63 Intellectual disability, X-linked 63 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_72 Intellectual disability, X-linked 72 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_72_early_onset_parkinsonism_intellectual_disability_syndrome Intellectual disability, X-linked 72;Early-onset parkinsonism-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_81 Intellectual disability, X-linked 81 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_88 Intellectual disability, X-linked 88 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_9 Intellectual disability, X-linked 9 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_90 Intellectual disability, X-linked 90 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_91 Intellectual disability, X-linked 91 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_93 Intellectual disability, X-linked 93 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_96 Intellectual disability, X-linked 96 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_97 Intellectual disability, X-linked 97 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_99 Intellectual disability, X-linked 99 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_99_intellectual_disability_x_linked_99_syndromic_female_restricted Intellectual disability, X-linked 99;Intellectual disability, X-linked 99, syndromic, female-restricted Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_99_syndromic_female_restricted Intellectual disability, X-linked 99, syndromic, female-restricted Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_99_syndromic_female_restricted_intellectual_disability_x_linked_99 Intellectual disability, X-linked 99, syndromic, female-restricted;Intellectual disability, X-linked 99 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_syndromic_33 Intellectual disability, X-linked, syndromic 33 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_syndromic_35 Intellectual disability, X-linked, syndromic, 35 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_syndromic_35_autism_susceptibility_to_x_linked_5 Intellectual disability, X-linked, syndromic, 35;Autism, susceptibility to, X-linked 5 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_syndromic_bain_type Intellectual disability, X-linked, syndromic, Bain type Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_syndromic_houge_type Intellectual disability, X-linked, syndromic, Houge type Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_syndromic_turner_type Intellectual disability, X-linked syndromic, Turner type Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_with_or_without_seizures_arx_related Intellectual disability, X-linked, with or without seizures, ARX-related Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_with_or_without_seizures_arx_related_arx_related_epileptic_encephalopathy Intellectual disability, X-linked, with or without seizures, ARX-related;ARX-related epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_with_or_without_seizures_arx_related_developmental_and_epileptic_encephalopathy_1 Intellectual disability, X-linked, with or without seizures, ARX-related;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_with_or_without_seizures_arx_related_partington_syndrome_developmental_and_epileptic_encephalopathy_1_x_linked_lissencephaly_with_abnormal_genitalia_corpus_callosum_agenesis_abnormal_genitalia_syndrome Intellectual disability, X-linked, with or without seizures, ARX-related;Partington syndrome;Developmental and epileptic encephalopathy, 1;X-linked lissencephaly with abnormal genitalia;Corpus callosum agenesis-abnormal genitalia syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_with_or_without_seizures_arx_related_x_linked_lissencephaly_with_abnormal_genitalia_corpus_callosum_agenesis_abnormal_genitalia_syndrome_partington_syndrome_developmental_and_epileptic_encephalopathy_1 Intellectual disability, X-linked, with or without seizures, ARX-related;X-linked lissencephaly with abnormal genitalia;Corpus callosum agenesis-abnormal genitalia syndrome;Partington syndrome;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_with_panhypopituitarism Intellectual disability, X-linked, with panhypopituitarism Supplemental_disease_name DISEASE_NAME:intellectual_disability_x_linked_with_panhypopituitarism_panhypopituitarism_x_linked Intellectual disability, X-linked, with panhypopituitarism;Panhypopituitarism, X-linked Supplemental_disease_name DISEASE_NAME:intellectual_functioning_disability Intellectual functioning disability Supplemental_disease_name DISEASE_NAME:interferon_gamma_receptor_deficiency Interferon gamma receptor deficiency Supplemental_disease_name DISEASE_NAME:interferonopathy interferonopathy Supplemental_disease_name DISEASE_NAME:interferons_peginterferon_alfa_2a_peginterferon_alfa_2b_and_ribavirin_response_efficacy interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy Supplemental_disease_name DISEASE_NAME:interleukin_6_serum_level_of_quantitative_trait_locus Interleukin 6, serum level of, quantitative trait locus Supplemental_disease_name DISEASE_NAME:intermediate_form_of_pex7_related_rhizomelic_chondrodysplasia_punctata Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata Supplemental_disease_name DISEASE_NAME:intermediate_muscular_dystrophy Intermediate muscular dystrophy Supplemental_disease_name DISEASE_NAME:intermediate_severe_salla_disease Intermediate severe Salla disease Supplemental_disease_name DISEASE_NAME:internal_carotid_artery_stenosis Internal carotid artery stenosis Supplemental_disease_name DISEASE_NAME:internal_malformations Internal malformations Supplemental_disease_name DISEASE_NAME:interstitial_6q_microdeletion_syndrome Interstitial 6q microdeletion syndrome Supplemental_disease_name DISEASE_NAME:interstitial_cardiac_fibrosis Interstitial cardiac fibrosis Supplemental_disease_name DISEASE_NAME:interstitial_lung_and_liver_disease Interstitial lung and liver disease Supplemental_disease_name DISEASE_NAME:interstitial_lung_disease_2_dyskeratosis_congenita_autosomal_dominant_2 Interstitial lung disease 2;Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:interstitial_lung_disease_2_surfactant_metabolism_dysfunction_pulmonary_2 Interstitial lung disease 2;Surfactant metabolism dysfunction, pulmonary, 2 Supplemental_disease_name DISEASE_NAME:interstitial_lung_disease_due_to_abca3_deficiency Interstitial lung disease due to ABCA3 deficiency Supplemental_disease_name DISEASE_NAME:interstitial_lung_disease_specific_to_childhood Interstitial lung disease specific to childhood Supplemental_disease_name DISEASE_NAME:interstitial_pneumonitis Interstitial pneumonitis Supplemental_disease_name DISEASE_NAME:interstitial_pulmonary_disease Interstitial pulmonary disease Supplemental_disease_name DISEASE_NAME:intervertebral_disc_disease_susceptibility_to Intervertebral disc disease, susceptibility to Supplemental_disease_name DISEASE_NAME:intervertebral_disc_disorder Intervertebral disc disorder Supplemental_disease_name DISEASE_NAME:intervertebral_disc_disorder_epiphyseal_dysplasia_multiple_2_stickler_syndrome_type_5 Intervertebral disc disorder;Epiphyseal dysplasia, multiple, 2;Stickler syndrome, type 5 Supplemental_disease_name DISEASE_NAME:intervertebral_disc_disorder_epiphyseal_dysplasia_multiple_3 Intervertebral disc disorder;Epiphyseal dysplasia, multiple, 3 Supplemental_disease_name DISEASE_NAME:intervertebral_disc_disorder_fibrochondrogenesis_1_marshall_syndrome_hearing_loss_autosomal_dominant_37_stickler_syndrome_type_2 Intervertebral disc disorder;Fibrochondrogenesis 1;Marshall syndrome;Hearing loss, autosomal dominant 37;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:intervertebral_disc_disorder_stickler_syndrome_type_2_fibrochondrogenesis_1_marshall_syndrome_hearing_loss_autosomal_dominant_37 Intervertebral disc disorder;Stickler syndrome type 2;Fibrochondrogenesis 1;Marshall syndrome;Hearing loss, autosomal dominant 37 Supplemental_disease_name DISEASE_NAME:intervertebral_disc_disorder_stickler_syndrome_type_2_marshall_syndrome_fibrochondrogenesis_1_hearing_loss_autosomal_dominant_37 Intervertebral disc disorder;Stickler syndrome type 2;Marshall syndrome;Fibrochondrogenesis 1;Hearing loss, autosomal dominant 37 Supplemental_disease_name DISEASE_NAME:intestinal_dysmotility_syndrome Intestinal dysmotility syndrome Supplemental_disease_name DISEASE_NAME:intestinal_malrotation Intestinal malrotation Supplemental_disease_name DISEASE_NAME:intestinal_obstruction_in_the_newborn_due_to_guanylate_cyclase_2c_deficiency Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Supplemental_disease_name DISEASE_NAME:intestinal_obstruction_in_the_newborn_due_to_guanylate_cyclase_2c_deficiency_congenital_diarrhea_6 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency;Congenital diarrhea 6 Supplemental_disease_name DISEASE_NAME:intestinal_obstruction_polyhydramnios_hydrops_fetalis Intestinal obstruction;Polyhydramnios;Hydrops fetalis Supplemental_disease_name DISEASE_NAME:intestinal_polyposis_syndrome Intestinal polyposis syndrome Supplemental_disease_name DISEASE_NAME:intestinal_pseudoobstruction_neuronal_chronic_idiopathic_x_linked Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked Supplemental_disease_name DISEASE_NAME:intestinal_pseudoobstruction_neuronal_chronic_idiopathic_x_linked_cardiac_valvular_dysplasia_x_linked_heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_i Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked;Cardiac valvular dysplasia, X-linked;Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type I Supplemental_disease_name DISEASE_NAME:intestinal_pseudoobstruction_neuronal_chronic_idiopathic_x_linked_heterotopia_periventricular_x_linked_dominant Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked;Heterotopia, periventricular, X-linked dominant Supplemental_disease_name DISEASE_NAME:intracerebral_hemorrhage Intracerebral hemorrhage Supplemental_disease_name DISEASE_NAME:intracranial_hemorrhage Intracranial hemorrhage Supplemental_disease_name DISEASE_NAME:intracranial_hemorrhage_cerebral_calcification Intracranial hemorrhage;Cerebral calcification Supplemental_disease_name DISEASE_NAME:intractable_childhood_epilepsy_with_generalized_tonic_clonic_seizures Intractable childhood epilepsy with generalized tonic-clonic seizures Supplemental_disease_name DISEASE_NAME:intractable_seizure Intractable seizure Supplemental_disease_name DISEASE_NAME:intractable_status_epilepticus Intractable status epilepticus Supplemental_disease_name DISEASE_NAME:intrahepatic_cholestasis_pruritus_abnormal_liver_function_tests_during_pregnancy Intrahepatic cholestasis;Pruritus;Abnormal liver function tests during pregnancy Supplemental_disease_name DISEASE_NAME:intranuclear_rod_myopathy Intranuclear rod myopathy Supplemental_disease_name DISEASE_NAME:intrauterine_growth_retardation Intrauterine growth retardation Supplemental_disease_name DISEASE_NAME:intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency Supplemental_disease_name DISEASE_NAME:intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency_colorectal_cancer_susceptibility_to_12_facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency;Colorectal cancer, susceptibility to, 12;Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Supplemental_disease_name DISEASE_NAME:intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency_facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency;Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Supplemental_disease_name DISEASE_NAME:intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency_facial_dysmorphism_immunodeficiency_livedo_short_stature_syndrome_colorectal_cancer_susceptibility_to_12 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency;Facial dysmorphism-immunodeficiency-livedo-short stature syndrome;Colorectal cancer, susceptibility to, 12 Supplemental_disease_name DISEASE_NAME:intraventricular_hemorrhage Intraventricular hemorrhage Supplemental_disease_name DISEASE_NAME:intraventricular_hemorrhage_abnormal_corpus_callosum_morphology Intraventricular hemorrhage;Abnormal corpus callosum morphology Supplemental_disease_name DISEASE_NAME:intrinsic_factor_deficiency_congenital_susceptibility_to Intrinsic factor deficiency, congenital, susceptibility to Supplemental_disease_name DISEASE_NAME:ints1_related_disorder INTS1-related disorder Supplemental_disease_name DISEASE_NAME:ints2_related_disorder INTS2-related disorder Supplemental_disease_name DISEASE_NAME:ints6_associated_neurodevelopmental_disorder INTS6-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ints6_related_disorder INTS6-related disorder Supplemental_disease_name DISEASE_NAME:ints7_related_disorder INTS7-related disorder Supplemental_disease_name DISEASE_NAME:ints8_related_disorder INTS8-related disorder Supplemental_disease_name DISEASE_NAME:intu_related_disorder INTU-related disorder Supplemental_disease_name DISEASE_NAME:invasive_breast_carcinoma Invasive breast carcinoma Supplemental_disease_name DISEASE_NAME:invasive_lobular_breast_carcinoma Invasive lobular breast carcinoma Supplemental_disease_name DISEASE_NAME:invasive_medullary_breast_carcinoma Invasive medullary breast carcinoma Supplemental_disease_name DISEASE_NAME:invasive_pneumococcal_disease_protection_against Invasive pneumococcal disease, protection against Supplemental_disease_name DISEASE_NAME:invasive_pneumococcal_disease_recurrent_isolated Invasive pneumococcal disease, recurrent isolated Supplemental_disease_name DISEASE_NAME:involuntary_movements_specific_learning_disability Involuntary movements;Specific learning disability Supplemental_disease_name DISEASE_NAME:invs_related_disorder INVS-related disorder Supplemental_disease_name DISEASE_NAME:iodotyrosine_deiodination_defect Iodotyrosine deiodination defect Supplemental_disease_name DISEASE_NAME:iodotyrosyl_coupling_defect Iodotyrosyl coupling defect Supplemental_disease_name DISEASE_NAME:iodotyrosyl_coupling_defect_autoimmune_thyroid_disease_susceptibility_to_3 Iodotyrosyl coupling defect;Autoimmune thyroid disease, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:ipo13_related_disorder IPO13-related disorder Supplemental_disease_name DISEASE_NAME:ipo8_related_aortopathy IPO8-related aortopathy Supplemental_disease_name DISEASE_NAME:ipo8_related_connective_tissue_disorder IPO8 related Connective tissue disorder Supplemental_disease_name DISEASE_NAME:ipo8_related_disorder IPO8-related disorder Supplemental_disease_name DISEASE_NAME:ipo9_related_condition IPO9-related condition Supplemental_disease_name DISEASE_NAME:ipp_related_disorder IPP-related disorder Supplemental_disease_name DISEASE_NAME:iqcb1_related_disorder IQCB1-related disorder Supplemental_disease_name DISEASE_NAME:iqce_related_disorder IQCE-related disorder Supplemental_disease_name DISEASE_NAME:iqgap1_associated_immune_condition IQGAP1-associated immune condition Supplemental_disease_name DISEASE_NAME:iqgap1_related_disorder IQGAP1-related disorder Supplemental_disease_name DISEASE_NAME:iqgap3_related_disorder IQGAP3-related disorder Supplemental_disease_name DISEASE_NAME:iqsec1_related_disorder IQSEC1-related disorder Supplemental_disease_name DISEASE_NAME:iqsec2_related_disorder IQSEC2-related disorder Supplemental_disease_name DISEASE_NAME:iqsec2_related_x_linked_neurodevelopmental_disorder IQSEC2-related X-linked neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:iqsec3_related_disorder IQSEC3-related disorder Supplemental_disease_name DISEASE_NAME:irak1_related_disorder IRAK1-related disorder Supplemental_disease_name DISEASE_NAME:irak3_related_disorder IRAK3-related disorder Supplemental_disease_name DISEASE_NAME:irak4_related_disorder IRAK4-related disorder Supplemental_disease_name DISEASE_NAME:ireb2_related_disorder IREB2-related disorder Supplemental_disease_name DISEASE_NAME:irf1_related_disorder IRF1-related disorder Supplemental_disease_name DISEASE_NAME:irf2bp2_related_disorder IRF2BP2-related disorder Supplemental_disease_name DISEASE_NAME:irf2bpl_related_disorder IRF2BPL-related disorder Supplemental_disease_name DISEASE_NAME:irf3_related_disorder IRF3-related disorder Supplemental_disease_name DISEASE_NAME:irf4_related_disorder IRF4-related disorder Supplemental_disease_name DISEASE_NAME:irf5_related_disorder IRF5-related disorder Supplemental_disease_name DISEASE_NAME:irf6_related_condition IRF6-related condition Supplemental_disease_name DISEASE_NAME:irf7_related_disorder IRF7-related disorder Supplemental_disease_name DISEASE_NAME:irf8_related_disorder IRF8-related disorder Supplemental_disease_name DISEASE_NAME:irf9_related_disorder IRF9-related disorder Supplemental_disease_name DISEASE_NAME:irgm_related_disorder IRGM-related disorder Supplemental_disease_name DISEASE_NAME:irido_corneo_trabecular_dysgenesis Irido-corneo-trabecular dysgenesis Supplemental_disease_name DISEASE_NAME:irido_corneo_trabecular_dysgenesis_aniridia_1 Irido-corneo-trabecular dysgenesis;Aniridia 1 Supplemental_disease_name DISEASE_NAME:irido_corneo_trabecular_dysgenesis_anophthalmia_microphthalmia_syndrome Irido-corneo-trabecular dysgenesis;Anophthalmia-microphthalmia syndrome Supplemental_disease_name DISEASE_NAME:irido_corneo_trabecular_dysgenesis_foveal_hypoplasia_1 Irido-corneo-trabecular dysgenesis;Foveal hypoplasia 1 Supplemental_disease_name DISEASE_NAME:irido_corneo_trabecular_dysgenesis_glaucoma_3a Irido-corneo-trabecular dysgenesis;Glaucoma 3A Supplemental_disease_name DISEASE_NAME:irido_corneo_trabecular_dysgenesis_rieger_anomaly Irido-corneo-trabecular dysgenesis;Rieger anomaly Supplemental_disease_name DISEASE_NAME:irinotecan_response Irinotecan response Supplemental_disease_name DISEASE_NAME:irinotecan_response_toxicity irinotecan response - Toxicity Supplemental_disease_name DISEASE_NAME:iris_coloboma Iris coloboma Supplemental_disease_name DISEASE_NAME:iron_accumulation_in_brain Iron accumulation in brain Supplemental_disease_name DISEASE_NAME:iron_accumulation_in_brain_neurodegeneration Iron accumulation in brain;Neurodegeneration Supplemental_disease_name DISEASE_NAME:iron_deposition_in_globus_pallidus_microcephaly_intellectual_disability_hypotonia_global_developmental_delay Iron deposition in globus pallidus;Microcephaly;Intellectual disability;Hypotonia;Global developmental delay Supplemental_disease_name DISEASE_NAME:iron_metabolism_disorders Iron metabolism disorders Supplemental_disease_name DISEASE_NAME:iron_overload Iron overload Supplemental_disease_name DISEASE_NAME:iron_overload_susceptibility_to Iron overload, susceptibility to Supplemental_disease_name DISEASE_NAME:iron_refractory_iron_deficiency_anemia Iron-refractory iron deficiency anemia Supplemental_disease_name DISEASE_NAME:irs1_related_disorder IRS1-related disorder Supplemental_disease_name DISEASE_NAME:irs2_related_disorder IRS2-related disorder Supplemental_disease_name DISEASE_NAME:irs4_related_disorder IRS4-related disorder Supplemental_disease_name DISEASE_NAME:irx1_related_disorder IRX1-related disorder Supplemental_disease_name DISEASE_NAME:irx5_related_disorder IRX5-related disorder Supplemental_disease_name DISEASE_NAME:isca1_related_disorder ISCA1-related disorder Supplemental_disease_name DISEASE_NAME:isca2_related_disorder ISCA2-related disorder Supplemental_disease_name DISEASE_NAME:ischemic_myocardium Ischemic myocardium Supplemental_disease_name DISEASE_NAME:ischemic_stroke_budd_chiari_syndrome_factor_v_deficiency_pregnancy_loss_recurrent_susceptibility_to_1_thrombophilia_due_to_activated_protein_c_resistance Ischemic stroke;Budd-Chiari syndrome;Factor V deficiency;Pregnancy loss, recurrent, susceptibility to, 1;Thrombophilia due to activated protein C resistance Supplemental_disease_name DISEASE_NAME:ischemic_stroke_budd_chiari_syndrome_pregnancy_loss_recurrent_susceptibility_to_1_thrombophilia_due_to_activated_protein_c_resistance_congenital_factor_v_deficiency Ischemic stroke;Budd-Chiari syndrome;Pregnancy loss, recurrent, susceptibility to, 1;Thrombophilia due to activated protein C resistance;Congenital factor V deficiency Supplemental_disease_name DISEASE_NAME:ischemic_stroke_congenital_prothrombin_deficiency_pregnancy_loss_recurrent_susceptibility_to_2_thrombophilia_due_to_thrombin_defect Ischemic stroke;Congenital prothrombin deficiency;Pregnancy loss, recurrent, susceptibility to, 2;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:ischemic_stroke_congenital_prothrombin_deficiency_thrombophilia_due_to_thrombin_defect_pregnancy_loss_recurrent_susceptibility_to_2 Ischemic stroke;Congenital prothrombin deficiency;Thrombophilia due to thrombin defect;Pregnancy loss, recurrent, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:ischemic_stroke_focal_white_matter_lesions Ischemic stroke;Focal white matter lesions Supplemental_disease_name DISEASE_NAME:ischemic_stroke_global_developmental_delay Ischemic stroke;Global developmental delay Supplemental_disease_name DISEASE_NAME:ischemic_stroke_pregnancy_loss_recurrent_susceptibility_to_1_factor_v_deficiency_thrombophilia_due_to_activated_protein_c_resistance_budd_chiari_syndrome Ischemic stroke;Pregnancy loss, recurrent, susceptibility to, 1;Factor V deficiency;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome Supplemental_disease_name DISEASE_NAME:ischemic_stroke_pregnancy_loss_recurrent_susceptibility_to_1_thrombophilia_due_to_activated_protein_c_resistance_budd_chiari_syndrome_congenital_factor_v_deficiency Ischemic stroke;Pregnancy loss, recurrent, susceptibility to, 1;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;Congenital factor V deficiency Supplemental_disease_name DISEASE_NAME:ischemic_stroke_pregnancy_loss_recurrent_susceptibility_to_2_thrombophilia_due_to_thrombin_defect_congenital_prothrombin_deficiency Ischemic stroke;Pregnancy loss, recurrent, susceptibility to, 2;Thrombophilia due to thrombin defect;Congenital prothrombin deficiency Supplemental_disease_name DISEASE_NAME:ischemic_stroke_thrombophilia_due_to_activated_protein_c_resistance_pregnancy_loss_recurrent_susceptibility_to_1_congenital_factor_v_deficiency_budd_chiari_syndrome Ischemic stroke;Thrombophilia due to activated protein C resistance;Pregnancy loss, recurrent, susceptibility to, 1;Congenital factor V deficiency;Budd-Chiari syndrome Supplemental_disease_name DISEASE_NAME:ischemic_stroke_transient_ischemic_attack Ischemic stroke;Transient ischemic attack Supplemental_disease_name DISEASE_NAME:iscu_related_disorder ISCU-related disorder Supplemental_disease_name DISEASE_NAME:isg15_related_disorder ISG15-related disorder Supplemental_disease_name DISEASE_NAME:isl1_related_disorder ISL1-related disorder Supplemental_disease_name DISEASE_NAME:islet_cell_adenomatosis Islet cell adenomatosis Supplemental_disease_name DISEASE_NAME:ism1_related_disorder ISM1-related disorder Supplemental_disease_name DISEASE_NAME:isoflurane_response_toxicity isoflurane response - Toxicity Supplemental_disease_name DISEASE_NAME:isolated_anophthalmia_microphthalmia_syndrome Isolated anophthalmia-microphthalmia syndrome Supplemental_disease_name DISEASE_NAME:isolated_anorectal_malformation Isolated anorectal malformation Supplemental_disease_name DISEASE_NAME:isolated_asymptomatic_elevation_of_creatine_phosphokinase Isolated asymptomatic elevation of creatine phosphokinase Supplemental_disease_name DISEASE_NAME:isolated_congenital_digital_clubbing Isolated congenital digital clubbing Supplemental_disease_name DISEASE_NAME:isolated_congenital_digital_clubbing_hypertrophic_osteoarthropathy_primary_autosomal_recessive_1 Isolated congenital digital clubbing;Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Supplemental_disease_name DISEASE_NAME:isolated_congenital_hypogonadotropic_hypogonadism Isolated congenital hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:isolated_congenital_megalocornea Isolated congenital megalocornea Supplemental_disease_name DISEASE_NAME:isolated_coronal_synostosis Isolated Coronal Synostosis Supplemental_disease_name DISEASE_NAME:isolated_cryptophthalmia_fraser_syndrome_2 Isolated cryptophthalmia;Fraser syndrome 2 Supplemental_disease_name DISEASE_NAME:isolated_ectopia_lentis_mass_syndrome_marfan_syndrome_stiff_skin_syndrome Isolated ectopia lentis;MASS syndrome;Marfan syndrome;Stiff skin syndrome Supplemental_disease_name DISEASE_NAME:isolated_focal_cortical_dysplasia_type_ii Isolated focal cortical dysplasia type II Supplemental_disease_name DISEASE_NAME:isolated_focal_cortical_dysplasia_type_ii_lymphangiomyomatosis_tuberous_sclerosis_1 Isolated focal cortical dysplasia type II;Lymphangiomyomatosis;Tuberous sclerosis 1 Supplemental_disease_name DISEASE_NAME:isolated_focal_cortical_dysplasia_type_ii_lymphangiomyomatosis_tuberous_sclerosis_2 Isolated focal cortical dysplasia type II;Lymphangiomyomatosis;Tuberous sclerosis 2 Supplemental_disease_name DISEASE_NAME:isolated_focal_cortical_dysplasia_type_ii_macrocephaly_intellectual_disability_neurodevelopmental_disorder_small_thorax_syndrome Isolated focal cortical dysplasia type II;Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Supplemental_disease_name DISEASE_NAME:isolated_focal_cortical_dysplasia_type_ii_tuberous_sclerosis_1_lymphangiomyomatosis Isolated focal cortical dysplasia type II;Tuberous sclerosis 1;Lymphangiomyomatosis Supplemental_disease_name DISEASE_NAME:isolated_focal_cortical_dysplasia_type_ii_tuberous_sclerosis_2 Isolated focal cortical dysplasia type II;Tuberous sclerosis 2 Supplemental_disease_name DISEASE_NAME:isolated_focal_cortical_dysplasia_type_ii_tuberous_sclerosis_2_lymphangiomyomatosis Isolated focal cortical dysplasia type II;Tuberous sclerosis 2;Lymphangiomyomatosis Supplemental_disease_name DISEASE_NAME:isolated_focal_non_epidermolytic_palmoplantar_keratoderma_olmsted_syndrome_1 Isolated focal non-epidermolytic palmoplantar keratoderma;Olmsted syndrome 1 Supplemental_disease_name DISEASE_NAME:isolated_foveal_hypoplasia Isolated foveal hypoplasia Supplemental_disease_name DISEASE_NAME:isolated_gnrh_deficiency Isolated GnRH Deficiency Supplemental_disease_name DISEASE_NAME:isolated_growth_hormone_deficiency_type_4 Isolated growth hormone deficiency, type 4 Supplemental_disease_name DISEASE_NAME:isolated_growth_hormone_deficiency_type_5 Isolated growth hormone deficiency, type 5 Supplemental_disease_name DISEASE_NAME:isolated_growth_hormone_deficiency_type_ib_ateleiotic_dwarfism_autosomal_dominant_isolated_somatotropin_deficiency_short_stature_due_to_growth_hormone_qualitative_anomaly Isolated growth hormone deficiency type IB;Ateleiotic dwarfism;Autosomal dominant isolated somatotropin deficiency;Short stature due to growth hormone qualitative anomaly Supplemental_disease_name DISEASE_NAME:isolated_growth_hormone_deficiency_type_ib_autosomal_dominant_isolated_somatotropin_deficiency_short_stature_due_to_growth_hormone_qualitative_anomaly_ateleiotic_dwarfism Isolated growth hormone deficiency type IB;Autosomal dominant isolated somatotropin deficiency;Short stature due to growth hormone qualitative anomaly;Ateleiotic dwarfism Supplemental_disease_name DISEASE_NAME:isolated_hand_syndactyly Isolated hand syndactyly Supplemental_disease_name DISEASE_NAME:isolated_hereditary_giant_platelet_disorder Isolated hereditary giant platelet disorder Supplemental_disease_name DISEASE_NAME:isolated_hyperferritinemia Isolated hyperferritinemia Supplemental_disease_name DISEASE_NAME:isolated_lutropin_deficiency Isolated lutropin deficiency Supplemental_disease_name DISEASE_NAME:isolated_macular_dystrophy Isolated macular dystrophy Supplemental_disease_name DISEASE_NAME:isolated_methylmalonic_aciduria_cbld_type Isolated methylmalonic aciduria cblD type Supplemental_disease_name DISEASE_NAME:isolated_microphthalmia_2_microphthalmia_isolated_with_coloboma_3 Isolated microphthalmia 2;Microphthalmia, isolated, with coloboma 3 Supplemental_disease_name DISEASE_NAME:isolated_microphthalmia_4_klippel_feil_syndrome_1_autosomal_dominant_leber_congenital_amaurosis_17_microphthalmia_isolated_with_coloboma_6 Isolated microphthalmia 4;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17;Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:isolated_microphthalmia_4_klippel_feil_syndrome_1_autosomal_dominant_microphthalmia_isolated_with_coloboma_6_leber_congenital_amaurosis_17 Isolated microphthalmia 4;Klippel-Feil syndrome 1, autosomal dominant;Microphthalmia, isolated, with coloboma 6;Leber congenital amaurosis 17 Supplemental_disease_name DISEASE_NAME:isolated_microphthalmia_4_leber_congenital_amaurosis_17_klippel_feil_syndrome_1_autosomal_dominant_microphthalmia_isolated_with_coloboma_6 Isolated microphthalmia 4;Leber congenital amaurosis 17;Klippel-Feil syndrome 1, autosomal dominant;Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:isolated_microphthalmia_4_leber_congenital_amaurosis_17_microphthalmia_isolated_with_coloboma_6_klippel_feil_syndrome_1_autosomal_dominant Isolated microphthalmia 4;Leber congenital amaurosis 17;Microphthalmia, isolated, with coloboma 6;Klippel-Feil syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:isolated_microphthalmia_4_microphthalmia_isolated_with_coloboma_6_klippel_feil_syndrome_1_autosomal_dominant_leber_congenital_amaurosis_17 Isolated microphthalmia 4;Microphthalmia, isolated, with coloboma 6;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17 Supplemental_disease_name DISEASE_NAME:isolated_microphthalmia_4_microphthalmia_isolated_with_coloboma_6_leber_congenital_amaurosis_17_klippel_feil_syndrome_1_autosomal_dominant Isolated microphthalmia 4;Microphthalmia, isolated, with coloboma 6;Leber congenital amaurosis 17;Klippel-Feil syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:isolated_microphthalmia_4_microphthalmia_isolated_with_coloboma_6_multiple_synostoses_syndrome_4_klippel_feil_syndrome_1_autosomal_dominant_leber_congenital_amaurosis_17 Isolated microphthalmia 4;Microphthalmia, isolated, with coloboma 6;Multiple synostoses syndrome 4;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17 Supplemental_disease_name DISEASE_NAME:isolated_microphthalmia_5_nanophthalmos_2 Isolated microphthalmia 5;Nanophthalmos 2 Supplemental_disease_name DISEASE_NAME:isolated_neonatal_sclerosing_cholangitis Isolated neonatal sclerosing cholangitis Supplemental_disease_name DISEASE_NAME:isolated_neonatal_sclerosing_cholangitis_autosomal_recessive_nonsyndromic_hearing_loss_66 Isolated neonatal sclerosing cholangitis;Autosomal recessive nonsyndromic hearing loss 66 Supplemental_disease_name DISEASE_NAME:isolated_neonatal_sclerosing_cholangitis_autosomal_recessive_nonsyndromic_hearing_loss_66_nephronophthisis_19 Isolated neonatal sclerosing cholangitis;Autosomal recessive nonsyndromic hearing loss 66;Nephronophthisis 19 Supplemental_disease_name DISEASE_NAME:isolated_neonatal_sclerosing_cholangitis_nephronophthisis_19_autosomal_recessive_nonsyndromic_hearing_loss_66 Isolated neonatal sclerosing cholangitis;Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66 Supplemental_disease_name DISEASE_NAME:isolated_noncompaction_of_the_ventricular_myocardium Isolated Noncompaction of the Ventricular Myocardium Supplemental_disease_name DISEASE_NAME:isolated_nonsyndromic_congenital_heart_disease Isolated Nonsyndromic Congenital Heart Disease Supplemental_disease_name DISEASE_NAME:isolated_optic_nerve_hypoplasia Isolated optic nerve hypoplasia Supplemental_disease_name DISEASE_NAME:isolated_pierre_robin_syndrome Isolated Pierre-Robin syndrome Supplemental_disease_name DISEASE_NAME:isolated_pierre_robin_syndrome_hypotonia Isolated Pierre-Robin syndrome;Hypotonia Supplemental_disease_name DISEASE_NAME:isolated_pierre_robin_syndrome_intellectual_disability Isolated Pierre-Robin syndrome;Intellectual disability Supplemental_disease_name DISEASE_NAME:isolated_pierre_robin_syndrome_mild_intellectual_disability_bilateral_conductive_hearing_impairment_abnormal_esophagus_physiology Isolated Pierre-Robin syndrome;Mild intellectual disability;Bilateral conductive hearing impairment;Abnormal esophagus physiology Supplemental_disease_name DISEASE_NAME:isolated_sedoheptulokinase_deficiency Isolated sedoheptulokinase deficiency Supplemental_disease_name DISEASE_NAME:isolated_thoracic_aortic_aneurysm Isolated thoracic aortic aneurysm Supplemental_disease_name DISEASE_NAME:isolated_thyroid_stimulating_hormone_deficiency Isolated thyroid-stimulating hormone deficiency Supplemental_disease_name DISEASE_NAME:isolated_unilateral_hemispheric_cerebellar_hypoplasia_facial_hemangioma Isolated unilateral hemispheric cerebellar hypoplasia;Facial hemangioma Supplemental_disease_name DISEASE_NAME:isovaleric_acidemia_type_i Isovaleric acidemia, type I Supplemental_disease_name DISEASE_NAME:isovaleric_acidemia_type_ii Isovaleric acidemia, type II Supplemental_disease_name DISEASE_NAME:isovaleric_acidemia_type_iii Isovaleric acidemia, type III Supplemental_disease_name DISEASE_NAME:ispd_related_disorder ISPD-related disorder Supplemental_disease_name DISEASE_NAME:itch_related_disorder ITCH-related disorder Supplemental_disease_name DISEASE_NAME:itga2_related_disorder ITGA2-related disorder Supplemental_disease_name DISEASE_NAME:itga2b_related_disorder ITGA2B-related disorder Supplemental_disease_name DISEASE_NAME:itga3_related_disorder ITGA3-related disorder Supplemental_disease_name DISEASE_NAME:itga4_related_disorder ITGA4-related disorder Supplemental_disease_name DISEASE_NAME:itga6_related_disorder ITGA6-related disorder Supplemental_disease_name DISEASE_NAME:itga7_related_disorder ITGA7-related disorder Supplemental_disease_name DISEASE_NAME:itga8_related_disorder ITGA8-related disorder Supplemental_disease_name DISEASE_NAME:itga9_related_disorder ITGA9-related disorder Supplemental_disease_name DISEASE_NAME:itgam_related_disorder ITGAM-related disorder Supplemental_disease_name DISEASE_NAME:itgav_deficiency ITGAV deficiency Supplemental_disease_name DISEASE_NAME:itgav_related_disorder ITGAV-related disorder Supplemental_disease_name DISEASE_NAME:itgb2_related_disorder ITGB2-related disorder Supplemental_disease_name DISEASE_NAME:itgb3_related_disorder ITGB3-related disorder Supplemental_disease_name DISEASE_NAME:itgb4_related_disorder ITGB4-related disorder Supplemental_disease_name DISEASE_NAME:itgb6_related_disorder ITGB6-related disorder Supplemental_disease_name DISEASE_NAME:itih4_related_disorder ITIH4-related disorder Supplemental_disease_name DISEASE_NAME:itih6_related_disorder ITIH6-related disorder Supplemental_disease_name DISEASE_NAME:itk_related_disorder ITK-related disorder Supplemental_disease_name DISEASE_NAME:itm2b_related_disorder ITM2B-related disorder Supplemental_disease_name DISEASE_NAME:itpa_related_disorder ITPA-related disorder Supplemental_disease_name DISEASE_NAME:itpkb_related_disorder ITPKB-related disorder Supplemental_disease_name DISEASE_NAME:itpkc_related_disorder ITPKC-related disorder Supplemental_disease_name DISEASE_NAME:itpr1_associated_cerebellar_ataxia_spectrum_disorder ITPR1-associated cerebellar ataxia spectrum disorder Supplemental_disease_name DISEASE_NAME:itpr1_related_disorder ITPR1-related disorder Supplemental_disease_name DISEASE_NAME:itpr1_related_disorders ITPR1-related disorders Supplemental_disease_name DISEASE_NAME:itpr1_related_syndromic_and_non_syndromic_hereditary_ataxias ITPR1-related syndromic and non-syndromic hereditary ataxias Supplemental_disease_name DISEASE_NAME:itpr2_related_disorder ITPR2-related disorder Supplemental_disease_name DISEASE_NAME:itpr3_related_disorder ITPR3-related disorder Supplemental_disease_name DISEASE_NAME:itsn1_associated_neurodevelopmental_disorder ITSN1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:itsn1_related_disorder ITSN1-related disorder Supplemental_disease_name DISEASE_NAME:itsn1_related_neurodevelopmental_disorder ITSN1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:itsn1_related_neurodevelopmental_disorders ITSN1-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:itsn2_related_disorder ITSN2-related disorder Supplemental_disease_name DISEASE_NAME:ivacaftor_lumacaftor_response_efficacy ivacaftor / lumacaftor response - Efficacy Supplemental_disease_name DISEASE_NAME:ivacaftor_response_efficacy ivacaftor response - Efficacy Supplemental_disease_name DISEASE_NAME:ivacaftor_tezacaftor_response_efficacy ivacaftor / tezacaftor response - Efficacy Supplemental_disease_name DISEASE_NAME:ivd_related_disorder IVD-related disorder Supplemental_disease_name DISEASE_NAME:ivns1abp_related_disorder IVNS1ABP-related disorder Supplemental_disease_name DISEASE_NAME:iyd_related_disorder IYD-related disorder Supplemental_disease_name DISEASE_NAME:jaberi_elahi_syndrome Jaberi-Elahi syndrome Supplemental_disease_name DISEASE_NAME:jade2_associated_neurodevelopmental_disorder JADE2-associated Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:jag1_related_disorder JAG1-related disorder Supplemental_disease_name DISEASE_NAME:jag2_related_disorder JAG2-related disorder Supplemental_disease_name DISEASE_NAME:jagn1_related_disorder JAGN1-related disorder Supplemental_disease_name DISEASE_NAME:jak1_related_disorder JAK1-related disorder Supplemental_disease_name DISEASE_NAME:jak2_related_disorder JAK2-related disorder Supplemental_disease_name DISEASE_NAME:jak3_related_disorder JAK3-related disorder Supplemental_disease_name DISEASE_NAME:jam2_related_disorder JAM2-related disorder Supplemental_disease_name DISEASE_NAME:jam3_related_disorder JAM3-related disorder Supplemental_disease_name DISEASE_NAME:jarid2_associated_neurodevelopmental_disorder JARID2-associated Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:jarid2_related_disorder JARID2-related disorder Supplemental_disease_name DISEASE_NAME:jarid2_related_neurodevelopmental_disorder JARID2-related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:jarid2_related_neurodevelopmental_syndrome JARID2-related Neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:jaundice_erythema Jaundice;Erythema Supplemental_disease_name DISEASE_NAME:jaundice_global_developmental_delay Jaundice;Global developmental delay Supplemental_disease_name DISEASE_NAME:jawad_syndrome Jawad syndrome Supplemental_disease_name DISEASE_NAME:jawad_syndrome_seckel_syndrome_2 Jawad syndrome;Seckel syndrome 2 Supplemental_disease_name DISEASE_NAME:jeffries_lakhani_neurodevelopmental_syndrome Jeffries-Lakhani neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome Jervell and lange-nielsen syndrome Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome_1 Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome_1_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_short_qt_syndrome_type_2_long_qt_syndrome_1 Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Short QT syndrome type 2;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome_1_long_qt_syndrome_1 Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome_1_long_qt_syndrome_1_short_qt_syndrome_type_2_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1;Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2_atrial_fibrillation_familial_3_long_qt_syndrome_1 Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2_long_qt_syndrome_1_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome_2 Jervell and Lange-Nielsen syndrome 2 Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome_2_long_qt_syndrome_5 Jervell and Lange-Nielsen syndrome 2;Long QT syndrome 5 Supplemental_disease_name DISEASE_NAME:jervell_and_lange_nielsen_syndrome_short_qt_syndrome_type_2_long_qt_syndrome_1_atrial_fibrillation_familial_3 Jervell and Lange-Nielsen syndrome;Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3 Supplemental_disease_name DISEASE_NAME:jeune_syndrome_grk2_related Jeune syndrome - GRK2-related Supplemental_disease_name DISEASE_NAME:jeune_thoracic_dystrophy Jeune thoracic dystrophy Supplemental_disease_name DISEASE_NAME:jeune_thoracic_dystrophy_joubert_syndrome Jeune thoracic dystrophy;Joubert syndrome Supplemental_disease_name DISEASE_NAME:jeune_thoracic_dystrophy_nephronophthisis Jeune thoracic dystrophy;Nephronophthisis Supplemental_disease_name DISEASE_NAME:jk_null_variant Jk-null variant Supplemental_disease_name DISEASE_NAME:jk_null_variant_finnish_type Jk-null variant, finnish type Supplemental_disease_name DISEASE_NAME:jkamp_associated_neurodevelopmental_disease JKAMP-associated neurodevelopmental disease Supplemental_disease_name DISEASE_NAME:jkamp_neurodevelopmental_disorder JKAMP neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:jkamp_related_neurodevelopmental_disorder JKAMP-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:jmjd1c_associated_neurodevelopmental_disorder JMJD1C-associated Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:jmjd1c_related_disorder JMJD1C-related disorder Supplemental_disease_name DISEASE_NAME:jmjd1c_related_neurodevelopmental_disorder JMJD1C-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:jmjd7_pla2g4b_related_disorder JMJD7-PLA2G4B-related disorder Supplemental_disease_name DISEASE_NAME:jmjd7_related_disorder JMJD7-related disorder Supplemental_disease_name DISEASE_NAME:john_milton_hagen_blood_group_system John Milton Hagen blood group system Supplemental_disease_name DISEASE_NAME:joint_contractures_osteochondromas_and_b_cell_lymphoma Joint contractures, osteochondromas, and B-cell lymphoma Supplemental_disease_name DISEASE_NAME:joint_dislocation_short_stature Joint dislocation;Short stature Supplemental_disease_name DISEASE_NAME:joint_hypermobility Joint hypermobility Supplemental_disease_name DISEASE_NAME:joint_hypermobility_dyscalculia_expressive_language_delay_aggressive_behavior_poor_fine_motor_coordination Joint hypermobility;Dyscalculia;Expressive language delay;Aggressive behavior;Poor fine motor coordination Supplemental_disease_name DISEASE_NAME:joint_hypermobility_fragile_skin_bruising_susceptibility Joint hypermobility;Fragile skin;Bruising susceptibility Supplemental_disease_name DISEASE_NAME:joint_laxity_delayed_speech_and_language_development_generalized_joint_hypermobility_seizure_macrocephaly Joint laxity;Delayed speech and language development;Generalized joint hypermobility;Seizure;Macrocephaly Supplemental_disease_name DISEASE_NAME:joint_laxity_emg_myopathic_abnormalities_pain_emg_abnormality Joint laxity;EMG: myopathic abnormalities;Pain;EMG abnormality Supplemental_disease_name DISEASE_NAME:joubert_orofaciodigital_syndrome Joubert-orofaciodigital syndrome Supplemental_disease_name DISEASE_NAME:joubert_syndrome_10_orofaciodigital_syndrome_i_retinitis_pigmentosa_23_simpson_golabi_behmel_syndrome_type_2 Joubert syndrome 10;Orofaciodigital syndrome I;Retinitis pigmentosa 23;Simpson-Golabi-Behmel syndrome type 2 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_10_orofaciodigital_syndrome_i_simpson_golabi_behmel_syndrome_type_2 Joubert syndrome 10;Orofaciodigital syndrome I;Simpson-Golabi-Behmel syndrome type 2 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_10_retinitis_pigmentosa_23_simpson_golabi_behmel_syndrome_type_2_orofaciodigital_syndrome_i Joubert syndrome 10;Retinitis pigmentosa 23;Simpson-Golabi-Behmel syndrome type 2;Orofaciodigital syndrome I Supplemental_disease_name DISEASE_NAME:joubert_syndrome_10_simpson_golabi_behmel_syndrome_type_2_orofaciodigital_syndrome_i_retinitis_pigmentosa_23 Joubert syndrome 10;Simpson-Golabi-Behmel syndrome type 2;Orofaciodigital syndrome I;Retinitis pigmentosa 23 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_10_simpson_golabi_behmel_syndrome_type_2_retinitis_pigmentosa_23_orofaciodigital_syndrome_i Joubert syndrome 10;Simpson-Golabi-Behmel syndrome type 2;Retinitis pigmentosa 23;Orofaciodigital syndrome I Supplemental_disease_name DISEASE_NAME:joubert_syndrome_12 Joubert syndrome 12 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_12_15_digenic JOUBERT SYNDROME 12/15, DIGENIC Supplemental_disease_name DISEASE_NAME:joubert_syndrome_17_orofaciodigital_syndrome_type_6 Joubert syndrome 17;Orofaciodigital syndrome type 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_18_orofacial_digital_syndrome_iv Joubert syndrome 18;Orofacial-digital syndrome IV Supplemental_disease_name DISEASE_NAME:joubert_syndrome_19 Joubert syndrome 19 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_1_morm_syndrome Joubert syndrome 1;MORM syndrome Supplemental_disease_name DISEASE_NAME:joubert_syndrome_20_meckel_syndrome_type_11 Joubert syndrome 20;Meckel syndrome, type 11 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_23_short_rib_thoracic_dysplasia_14_with_polydactyly Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly Supplemental_disease_name DISEASE_NAME:joubert_syndrome_24_meckel_syndrome_type_8 Joubert syndrome 24;Meckel syndrome, type 8 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_25_intellectual_developmental_disorder_autosomal_recessive_77 Joubert syndrome 25;Intellectual developmental disorder, autosomal recessive 77 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_27_meckel_syndrome_type_9 Joubert syndrome 27;Meckel syndrome, type 9 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_28_bardet_biedl_syndrome_13_meckel_syndrome_type_1 Joubert syndrome 28;Bardet-Biedl syndrome 13;Meckel syndrome, type 1 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_28_meckel_syndrome_type_1_bardet_biedl_syndrome_13 Joubert syndrome 28;Meckel syndrome, type 1;Bardet-Biedl syndrome 13 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_2_meckel_syndrome_type_2 Joubert syndrome 2;Meckel syndrome, type 2 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_31_short_rib_thoracic_dysplasia_13_with_or_without_polydactyly Joubert syndrome 31;Short-rib thoracic dysplasia 13 with or without polydactyly Supplemental_disease_name DISEASE_NAME:joubert_syndrome_32_basal_cell_nevus_syndrome_2_medulloblastoma_familial_meningioma Joubert syndrome 32;Basal cell nevus syndrome 2;Medulloblastoma;Familial meningioma Supplemental_disease_name DISEASE_NAME:joubert_syndrome_34 Joubert syndrome 34 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_35 Joubert syndrome 35 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_35_retinitis_pigmentosa_83 Joubert syndrome 35;Retinitis pigmentosa 83 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_36 Joubert syndrome 36 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_37 Joubert syndrome 37 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_38 Joubert syndrome 38 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_38_short_rib_thoracic_dysplasia_21_without_polydactyly_orofaciodigital_syndrome_xv Joubert syndrome 38;Short-rib thoracic dysplasia 21 without polydactyly;Orofaciodigital syndrome XV Supplemental_disease_name DISEASE_NAME:joubert_syndrome_39 Joubert syndrome 39 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_40 Joubert syndrome 40 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_40_spermatogenic_failure_58 Joubert syndrome 40;Spermatogenic failure 58 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_40_spermatogenic_failure_58_bardet_biedl_syndrome_22 Joubert syndrome 40;Spermatogenic failure 58;Bardet-Biedl syndrome 22 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14 Joubert syndrome 5;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10 Joubert syndrome 5;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_meckel_syndrome_type_4_senior_loken_syndrome_6 Joubert syndrome 5;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Meckel syndrome, type 4;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_senior_loken_syndrome_6_meckel_syndrome_type_4 Joubert syndrome 5;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Senior-Loken syndrome 6;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14_meckel_syndrome_type_4_leber_congenital_amaurosis_10_senior_loken_syndrome_6 Joubert syndrome 5;Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Leber congenital amaurosis 10;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14_meckel_syndrome_type_4_senior_loken_syndrome_6 Joubert syndrome 5;Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14_meckel_syndrome_type_4_senior_loken_syndrome_6_leber_congenital_amaurosis_10 Joubert syndrome 5;Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Senior-Loken syndrome 6;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14_senior_loken_syndrome_6_leber_congenital_amaurosis_10_meckel_syndrome_type_4 Joubert syndrome 5;Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Leber congenital amaurosis 10;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14_senior_loken_syndrome_6_meckel_syndrome_type_4 Joubert syndrome 5;Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_bardet_biedl_syndrome_14_senior_loken_syndrome_6_meckel_syndrome_type_4_leber_congenital_amaurosis_10 Joubert syndrome 5;Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Meckel syndrome, type 4;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_leber_congenital_amaurosis_10_bardet_biedl_syndrome_14_meckel_syndrome_type_4_senior_loken_syndrome_6 Joubert syndrome 5;Leber congenital amaurosis 10;Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_leber_congenital_amaurosis_10_meckel_syndrome_type_4_senior_loken_syndrome_6 Joubert syndrome 5;Leber congenital amaurosis 10;Meckel syndrome, type 4;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_leber_congenital_amaurosis_10_meckel_syndrome_type_4_senior_loken_syndrome_6_bardet_biedl_syndrome_14 Joubert syndrome 5;Leber congenital amaurosis 10;Meckel syndrome, type 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_leber_congenital_amaurosis_10_senior_loken_syndrome_6_bardet_biedl_syndrome_14_meckel_syndrome_type_4 Joubert syndrome 5;Leber congenital amaurosis 10;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_leber_congenital_amaurosis_10_senior_loken_syndrome_6_meckel_syndrome_type_4 Joubert syndrome 5;Leber congenital amaurosis 10;Senior-Loken syndrome 6;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_meckel_syndrome_type_4_senior_loken_syndrome_6_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10 Joubert syndrome 5;Meckel syndrome, type 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_senior_loken_syndrome_6 Joubert syndrome 5;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_senior_loken_syndrome_6_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_meckel_syndrome_type_4 Joubert syndrome 5;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_senior_loken_syndrome_6_leber_congenital_amaurosis_10_meckel_syndrome_type_4 Joubert syndrome 5;Senior-Loken syndrome 6;Leber congenital amaurosis 10;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_senior_loken_syndrome_6_leber_congenital_amaurosis_10_meckel_syndrome_type_4_bardet_biedl_syndrome_14 Joubert syndrome 5;Senior-Loken syndrome 6;Leber congenital amaurosis 10;Meckel syndrome, type 4;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_senior_loken_syndrome_6_meckel_syndrome_type_4_bardet_biedl_syndrome_14 Joubert syndrome 5;Senior-Loken syndrome 6;Meckel syndrome, type 4;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_senior_loken_syndrome_6_meckel_syndrome_type_4_leber_congenital_amaurosis_10 Joubert syndrome 5;Senior-Loken syndrome 6;Meckel syndrome, type 4;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_5_senior_loken_syndrome_6_meckel_syndrome_type_4_leber_congenital_amaurosis_10_bardet_biedl_syndrome_14 Joubert syndrome 5;Senior-Loken syndrome 6;Meckel syndrome, type 4;Leber congenital amaurosis 10;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_6_bardet_biedl_syndrome_coach_syndrome_1 Joubert syndrome 6;Bardet-Biedl syndrome;COACH syndrome 1 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_6_coach_syndrome_1_nephronophthisis_11_rhyns_syndrome Joubert syndrome 6;COACH syndrome 1;Nephronophthisis 11;RHYNS syndrome Supplemental_disease_name DISEASE_NAME:joubert_syndrome_6_meckel_syndrome_type_3_nephronophthisis_11 Joubert syndrome 6;Meckel syndrome, type 3;Nephronophthisis 11 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_6_nephronophthisis_11_coach_syndrome_1_rhyns_syndrome Joubert syndrome 6;Nephronophthisis 11;COACH syndrome 1;RHYNS syndrome Supplemental_disease_name DISEASE_NAME:joubert_syndrome_7_coach_syndrome_1 Joubert syndrome 7;COACH syndrome 1 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_7_coach_syndrome_1_meckel_syndrome_type_5 Joubert syndrome 7;COACH syndrome 1;Meckel syndrome, type 5 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_7_coach_syndrome_3 Joubert syndrome 7;COACH syndrome 3 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_7_coach_syndrome_3_meckel_syndrome_type_5 Joubert syndrome 7;COACH syndrome 3;Meckel syndrome, type 5 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_7_meckel_syndrome_type_5_coach_syndrome_1 Joubert syndrome 7;Meckel syndrome, type 5;COACH syndrome 1 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_7_meckel_syndrome_type_5_coach_syndrome_3 Joubert syndrome 7;Meckel syndrome, type 5;COACH syndrome 3 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_15_digenic Joubert syndrome 9/15, digenic Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_coach_syndrome_2_meckel_syndrome_type_6 Joubert syndrome 9;COACH syndrome 2;Meckel syndrome, type 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_coach_syndrome_2_meckel_syndrome_type_6_retinitis_pigmentosa_93 Joubert syndrome 9;COACH syndrome 2;Meckel syndrome, type 6;Retinitis pigmentosa 93 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_coach_syndrome_2_retinitis_pigmentosa_93_meckel_syndrome_type_6 Joubert syndrome 9;COACH syndrome 2;Retinitis pigmentosa 93;Meckel syndrome, type 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_meckel_syndrome_type_6_coach_syndrome_1 Joubert syndrome 9;Meckel syndrome, type 6;COACH syndrome 1 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_meckel_syndrome_type_6_coach_syndrome_2 Joubert syndrome 9;Meckel syndrome, type 6;COACH syndrome 2 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_meckel_syndrome_type_6_coach_syndrome_2_retinitis_pigmentosa_93 Joubert syndrome 9;Meckel syndrome, type 6;COACH syndrome 2;Retinitis pigmentosa 93 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_retinitis_pigmentosa_93_coach_syndrome_2_meckel_syndrome_type_6 Joubert syndrome 9;Retinitis pigmentosa 93;COACH syndrome 2;Meckel syndrome, type 6 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_retinitis_pigmentosa_93_meckel_syndrome_type_6_coach_syndrome_2 Joubert syndrome 9;Retinitis pigmentosa 93;Meckel syndrome, type 6;COACH syndrome 2 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_and_related_disorders Joubert syndrome and related disorders Supplemental_disease_name DISEASE_NAME:joubert_syndrome_meckel_gruber_syndrome Joubert syndrome;Meckel-Gruber syndrome Supplemental_disease_name DISEASE_NAME:joubert_syndrome_meckel_gruber_syndrome_nephronophthisis Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis Supplemental_disease_name DISEASE_NAME:joubert_syndrome_nephronophthisis Joubert syndrome;Nephronophthisis Supplemental_disease_name DISEASE_NAME:joubert_syndrome_nephronophthisis_meckel_gruber_syndrome Joubert syndrome;Nephronophthisis;Meckel-Gruber syndrome Supplemental_disease_name DISEASE_NAME:joubert_syndrome_orofaciodigital_syndrome_i Joubert syndrome;Orofaciodigital syndrome I Supplemental_disease_name DISEASE_NAME:joubert_syndrome_primary_ciliary_dyskinesia Joubert syndrome;Primary ciliary dyskinesia Supplemental_disease_name DISEASE_NAME:joubert_syndrome_with_jeune_asphyxiating_thoracic_dystrophy_saldino_mainzer_syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy;Saldino-Mainzer syndrome Supplemental_disease_name DISEASE_NAME:joubert_syndrome_with_ocular_defect Joubert syndrome with ocular defect Supplemental_disease_name DISEASE_NAME:joubert_syndrome_with_renal_defect Joubert syndrome with renal defect Supplemental_disease_name DISEASE_NAME:joubert_syndrome_with_renal_defect_nephronophthisis_1_senior_loken_syndrome_1 Joubert syndrome with renal defect;Nephronophthisis 1;Senior-Loken syndrome 1 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_with_renal_defect_senior_loken_syndrome_1_nephronophthisis_1 Joubert syndrome with renal defect;Senior-Loken syndrome 1;Nephronophthisis 1 Supplemental_disease_name DISEASE_NAME:jph1_related_disorder JPH1-related disorder Supplemental_disease_name DISEASE_NAME:jph2_related_disorder JPH2-related disorder Supplemental_disease_name DISEASE_NAME:jph3_related_disorder JPH3-related disorder Supplemental_disease_name DISEASE_NAME:juberg_hayward_syndrome Juberg-Hayward syndrome Supplemental_disease_name DISEASE_NAME:juberg_hayward_syndrome_roberts_sc_phocomelia_syndrome Juberg-Hayward syndrome;Roberts-SC phocomelia syndrome Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_gravis_of_herlitz Junctional epidermolysis bullosa gravis of Herlitz Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_gravis_of_herlitz_amelogenesis_imperfecta_type_1a_junctional_epidermolysis_bullosa_non_herlitz_type Junctional epidermolysis bullosa gravis of Herlitz;Amelogenesis imperfecta type 1A;Junctional epidermolysis bullosa, non-Herlitz type Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_gravis_of_herlitz_epidermolysis_bullosa_junctional_3a_intermediate_epidermolysis_bullosa_junctional_3b_severe Junctional epidermolysis bullosa gravis of Herlitz;Epidermolysis bullosa, junctional 3A, intermediate;Epidermolysis bullosa, junctional 3B, severe Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_gravis_of_herlitz_junctional_epidermolysis_bullosa_non_herlitz_type Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_gravis_of_herlitz_junctional_epidermolysis_bullosa_non_herlitz_type_amelogenesis_imperfecta_type_1a Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Amelogenesis imperfecta type 1A Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_gravis_of_herlitz_junctional_epidermolysis_bullosa_non_herlitz_type_laryngo_onycho_cutaneous_syndrome Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Laryngo-onycho-cutaneous syndrome Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_non_herlitz_type_amelogenesis_imperfecta_type_1a_junctional_epidermolysis_bullosa_gravis_of_herlitz Junctional epidermolysis bullosa, non-Herlitz type;Amelogenesis imperfecta type 1A;Junctional epidermolysis bullosa gravis of Herlitz Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_non_herlitz_type_junctional_epidermolysis_bullosa_gravis_of_herlitz_amelogenesis_imperfecta_type_1a Junctional epidermolysis bullosa, non-Herlitz type;Junctional epidermolysis bullosa gravis of Herlitz;Amelogenesis imperfecta type 1A Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_with_pyloric_atresia_epidermolysis_bullosa_junctional_5a_intermediate Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_with_pyloric_atresia_epidermolysis_bullosa_simplex_1c_localized_junctional_epidermolysis_bullosa_non_herlitz_type Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa simplex 1C, localized;Junctional epidermolysis bullosa, non-Herlitz type Supplemental_disease_name DISEASE_NAME:junctional_epidermolysis_bullosa_with_pyloric_atresia_junctional_epidermolysis_bullosa_non_herlitz_type Junctional epidermolysis bullosa with pyloric atresia;Junctional epidermolysis bullosa, non-Herlitz type Supplemental_disease_name DISEASE_NAME:jup_related_disorder JUP-related disorder Supplemental_disease_name DISEASE_NAME:juvenile_amyotrophic_lateral_sclerosis Juvenile amyotrophic lateral sclerosis Supplemental_disease_name DISEASE_NAME:juvenile_amyotrophic_lateral_sclerosis_hereditary_spastic_paraplegia_11_charcot_marie_tooth_disease_axonal_type_2x Juvenile amyotrophic lateral sclerosis;Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X Supplemental_disease_name DISEASE_NAME:juvenile_arthritis_due_to_defect_in_lacc1 Juvenile arthritis due to defect in LACC1 Supplemental_disease_name DISEASE_NAME:juvenile_cataract_microcornea_renal_glucosuria_syndrome Juvenile cataract-microcornea-renal glucosuria syndrome Supplemental_disease_name DISEASE_NAME:juvenile_hyaline_fibromatosis Juvenile hyaline fibromatosis Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_cafe_au_lait_spot Juvenile myelomonocytic leukemia;Cafe-au-lait spot Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal_neurofibromatosis_type_1 Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1_neurofibromatosis_familial_spinal Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_cbl_related_disorder Juvenile myelomonocytic leukemia;CBL-related disorder Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_leopard_syndrome_1_metachondromatosis_noonan_syndrome_1 Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_leopard_syndrome_1_noonan_syndrome_1_metachondromatosis Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Noonan syndrome 1;Metachondromatosis Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_metachondromatosis_leopard_syndrome_1_noonan_syndrome_1 Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_metachondromatosis_noonan_syndrome_1_leopard_syndrome_1 Juvenile myelomonocytic leukemia;Metachondromatosis;Noonan syndrome 1;LEOPARD syndrome 1 Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_neurofibromatosis_familial_spinal_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1 Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_neurofibromatosis_familial_spinal_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1_neurofibromatosis_familial_spinal Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal_neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1_neurofibromatosis_familial_spinal_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_noonan_syndrome Juvenile myelomonocytic leukemia;Noonan syndrome Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_noonan_syndrome_1_leopard_syndrome_1_metachondromatosis Juvenile myelomonocytic leukemia;Noonan syndrome 1;LEOPARD syndrome 1;Metachondromatosis Supplemental_disease_name DISEASE_NAME:juvenile_myelomonocytic_leukemia_noonan_syndrome_1_metachondromatosis_leopard_syndrome_1 Juvenile myelomonocytic leukemia;Noonan syndrome 1;Metachondromatosis;LEOPARD syndrome 1 Supplemental_disease_name DISEASE_NAME:juvenile_myoclonic_epilepsy_absence_seizure Juvenile myoclonic epilepsy;Absence seizure Supplemental_disease_name DISEASE_NAME:juvenile_myoclonic_epilepsy_epilepsy_childhood_absence_4_developmental_and_epileptic_encephalopathy_19 Juvenile myoclonic epilepsy;Epilepsy, childhood absence 4;Developmental and epileptic encephalopathy, 19 Supplemental_disease_name DISEASE_NAME:juvenile_myoclonic_epilepsy_intellectual_disability Juvenile myoclonic epilepsy;Intellectual disability Supplemental_disease_name DISEASE_NAME:juvenile_myoclonic_epilepsy_typical_absence_seizure Juvenile myoclonic epilepsy;Typical absence seizure Supplemental_disease_name DISEASE_NAME:juvenile_nasopharyngeal_angiofibroma Juvenile nasopharyngeal angiofibroma Supplemental_disease_name DISEASE_NAME:juvenile_nephropathic_cystinosis Juvenile nephropathic cystinosis Supplemental_disease_name DISEASE_NAME:juvenile_nephropathic_cystinosis_inborn_genetic_diseases_ocular_cystinosis Juvenile nephropathic cystinosis;Inborn genetic diseases;Ocular cystinosis Supplemental_disease_name DISEASE_NAME:juvenile_nephropathic_cystinosis_nephropathic_cystinosis_ocular_cystinosis Juvenile nephropathic cystinosis;Nephropathic cystinosis;Ocular cystinosis Supplemental_disease_name DISEASE_NAME:juvenile_nephropathic_cystinosis_ocular_cystinosis_nephropathic_cystinosis Juvenile nephropathic cystinosis;Ocular cystinosis;Nephropathic cystinosis Supplemental_disease_name DISEASE_NAME:juvenile_onset_diabetes_mellitus_central_and_peripheral_neurodegeneration_syndrome Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Supplemental_disease_name DISEASE_NAME:juvenile_onset_parkinson_disease_motor_neuron_disease Juvenile-onset Parkinson disease;Motor neuron disease Supplemental_disease_name DISEASE_NAME:juvenile_onset_psychosis Juvenile onset psychosis Supplemental_disease_name DISEASE_NAME:juvenile_osteochondrosis_of_spine_legg_calve_perthes_disease Juvenile osteochondrosis of spine;Legg-Calve-Perthes disease Supplemental_disease_name DISEASE_NAME:juvenile_polyposis Juvenile Polyposis Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_carcinoma_of_pancreas_juvenile_polyposis_syndrome_myhre_syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Carcinoma of pancreas;Juvenile polyposis syndrome;Myhre syndrome Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_carcinoma_of_pancreas_myhre_syndrome_generalized_juvenile_polyposis_juvenile_polyposis_coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Carcinoma of pancreas;Myhre syndrome;Generalized juvenile polyposis/juvenile polyposis coli Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_familial_pancreatic_carcinoma_myhre_syndrome_juvenile_polyposis_syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Familial pancreatic carcinoma;Myhre syndrome;Juvenile polyposis syndrome Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_juvenile_polyposis_syndrome_familial_pancreatic_carcinoma_myhre_syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Juvenile polyposis syndrome;Familial pancreatic carcinoma;Myhre syndrome Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_juvenile_polyposis_syndrome_myhre_syndrome_carcinoma_of_pancreas Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Juvenile polyposis syndrome;Myhre syndrome;Carcinoma of pancreas Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_juvenile_polyposis_syndrome_myhre_syndrome_familial_pancreatic_carcinoma Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Juvenile polyposis syndrome;Myhre syndrome;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_myhre_syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_myhre_syndrome_carcinoma_of_pancreas_juvenile_polyposis_syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome;Carcinoma of pancreas;Juvenile polyposis syndrome Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_myhre_syndrome_familial_pancreatic_carcinoma_juvenile_polyposis_syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome;Familial pancreatic carcinoma;Juvenile polyposis syndrome Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_of_infancy Juvenile polyposis of infancy Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_of_stomach Juvenile polyposis of stomach Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_syndrome_carcinoma_of_pancreas_myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Juvenile polyposis syndrome;Carcinoma of pancreas;Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_syndrome_familial_pancreatic_carcinoma_myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Juvenile polyposis syndrome;Familial pancreatic carcinoma;Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_syndrome_myhre_syndrome_carcinoma_of_pancreas_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Juvenile polyposis syndrome;Myhre syndrome;Carcinoma of pancreas;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_syndrome_myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_carcinoma_of_pancreas Juvenile polyposis syndrome;Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Carcinoma of pancreas Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_syndrome_myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_familial_pancreatic_carcinoma Juvenile polyposis syndrome;Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:juvenile_polyposis_syndrome_polyposis_syndrome_hereditary_mixed_2 Juvenile polyposis syndrome;Polyposis syndrome, hereditary mixed, 2 Supplemental_disease_name DISEASE_NAME:juvenile_polyps Juvenile polyps Supplemental_disease_name DISEASE_NAME:juvenile_primary_lateral_sclerosis Juvenile primary lateral sclerosis Supplemental_disease_name DISEASE_NAME:juvenile_primary_lateral_sclerosis_amyotrophic_lateral_sclerosis_type_2_juvenile_infantile_onset_ascending_hereditary_spastic_paralysis Juvenile primary lateral sclerosis;Amyotrophic lateral sclerosis type 2, juvenile;Infantile-onset ascending hereditary spastic paralysis Supplemental_disease_name DISEASE_NAME:juvenile_primary_lateral_sclerosis_infantile_onset_ascending_hereditary_spastic_paralysis_amyotrophic_lateral_sclerosis_type_2_juvenile Juvenile primary lateral sclerosis;Infantile-onset ascending hereditary spastic paralysis;Amyotrophic lateral sclerosis type 2, juvenile Supplemental_disease_name DISEASE_NAME:juvenile_retinitis_pigmentosa_aipl1_related Juvenile retinitis pigmentosa, AIPL1-related Supplemental_disease_name DISEASE_NAME:juvenile_retinoschisis Juvenile retinoschisis Supplemental_disease_name DISEASE_NAME:juvenile_retinoschisis_macular_schisis_peripheral_schisis Juvenile retinoschisis;Macular schisis;Peripheral schisis Supplemental_disease_name DISEASE_NAME:ka_like_vemurafenib_induced_squamous_lesions KA-like vemurafenib-induced squamous lesions Supplemental_disease_name DISEASE_NAME:kabuki_like_syndrome Kabuki-like syndrome Supplemental_disease_name DISEASE_NAME:kabuki_syndrome_1 Kabuki syndrome 1 Supplemental_disease_name DISEASE_NAME:kabuki_syndrome_1_choanal_atresia_athelia_hypothyroidism_delayed_puberty_short_stature_syndrome Kabuki syndrome 1;Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Supplemental_disease_name DISEASE_NAME:kabuki_syndrome_1_kabuki_syndrome_2 Kabuki syndrome 1;Kabuki syndrome 2 Supplemental_disease_name DISEASE_NAME:kabuki_syndrome_2 Kabuki syndrome 2 Supplemental_disease_name DISEASE_NAME:kabuki_syndrome_2_kabuki_syndrome_1 Kabuki syndrome 2;Kabuki syndrome 1 Supplemental_disease_name DISEASE_NAME:kabuki_syndrome_kdm6a Kabuki Syndrome - KDM6A Supplemental_disease_name DISEASE_NAME:kahrizi_syndrome_srd5a3_congenital_disorder_of_glycosylation Kahrizi syndrome;SRD5A3-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:kala_azar_susceptibility_2 Kala-azar susceptibility 2 Supplemental_disease_name DISEASE_NAME:kallikrein_decreased_urinary_activity_of Kallikrein, decreased urinary activity of Supplemental_disease_name DISEASE_NAME:kalrn_related_disorder KALRN-related disorder Supplemental_disease_name DISEASE_NAME:kanamycin_response_toxicity kanamycin response - Toxicity Supplemental_disease_name DISEASE_NAME:kank1_related_disorder KANK1-related disorder Supplemental_disease_name DISEASE_NAME:kank2_related_disorder KANK2-related disorder Supplemental_disease_name DISEASE_NAME:kank4_related_disorder KANK4-related disorder Supplemental_disease_name DISEASE_NAME:kansl1_related_disorder KANSL1-related disorder Supplemental_disease_name DISEASE_NAME:kaposi_sarcoma_susceptibility_to Kaposi sarcoma, susceptibility to Supplemental_disease_name DISEASE_NAME:kaposi_sarcoma_susceptibility_to_neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies Kaposi sarcoma, susceptibility to;Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Supplemental_disease_name DISEASE_NAME:kapur_toriello_syndrome Kapur-Toriello syndrome Supplemental_disease_name DISEASE_NAME:karak_syndrome Karak syndrome Supplemental_disease_name DISEASE_NAME:karayol_borroto_haghshenas_neurodevelopmental_syndrome Karayol-Borroto-Haghshenas neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:kars1_related_disorder KARS1-related disorder Supplemental_disease_name DISEASE_NAME:kars_related_disorder KARS-related disorder Supplemental_disease_name DISEASE_NAME:kash5_related_disorder KASH5-related disorder Supplemental_disease_name DISEASE_NAME:kat2b_related_disorder KAT2B-related disorder Supplemental_disease_name DISEASE_NAME:kat5_related_disorder KAT5-related disorder Supplemental_disease_name DISEASE_NAME:kat6a_related_disorder KAT6A-related disorder Supplemental_disease_name DISEASE_NAME:kat6a_related_neurodevelopmental_disorder_with_multiple_anomalies KAT6A-related neurodevelopmental disorder with multiple anomalies Supplemental_disease_name DISEASE_NAME:kat6b_realted_disoder KAT6B-realted disoder Supplemental_disease_name DISEASE_NAME:kat6b_related_disorder KAT6B-related disorder Supplemental_disease_name DISEASE_NAME:kat6b_related_multiple_congenital_anomalies_syndrome KAT6B-related multiple congenital anomalies syndrome Supplemental_disease_name DISEASE_NAME:kat6b_related_spectrum_disorders KAT6B-Related Spectrum Disorders Supplemental_disease_name DISEASE_NAME:kat8_related_disorder KAT8-related disorder Supplemental_disease_name DISEASE_NAME:katnal2_related_autism KATNAL2-related autism Supplemental_disease_name DISEASE_NAME:katnal2_related_disorder KATNAL2-related disorder Supplemental_disease_name DISEASE_NAME:katnb1_related_disorder KATNB1-related disorder Supplemental_disease_name DISEASE_NAME:katnip_related_disorder KATNIP-related disorder Supplemental_disease_name DISEASE_NAME:kaya_barakat_masson_syndrome Kaya-Barakat-Masson syndrome Supplemental_disease_name DISEASE_NAME:kayser_fleischer_ring_hand_tremor Kayser-Fleischer ring;Hand tremor Supplemental_disease_name DISEASE_NAME:kbtbd13_related_disorder KBTBD13-related disorder Supplemental_disease_name DISEASE_NAME:kcn2a_related_disorder KCN2A-related disorder Supplemental_disease_name DISEASE_NAME:kcna1_related_disorder KCNA1-related disorder Supplemental_disease_name DISEASE_NAME:kcna2_related_developmental_and_epileptic_encephalopathy KCNA2-related developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:kcna2_related_disorder KCNA2-related disorder Supplemental_disease_name DISEASE_NAME:kcna3_associated_developmental_and_epileptic_encephalopathy KCNA3-associated developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:kcna3_associated_disorder KCNA3-associated disorder Supplemental_disease_name DISEASE_NAME:kcna3_related_developmental_delays_and_epileptic_encephalopathies KCNA3-related developmental delays and epileptic encephalopathies Supplemental_disease_name DISEASE_NAME:kcna3_related_disorder KCNA3-related disorder Supplemental_disease_name DISEASE_NAME:kcna3_related_neurodevelopmental_disorder KCNA3-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kcna5_related_disorder KCNA5-related disorder Supplemental_disease_name DISEASE_NAME:kcna6_associated_epileptic_encephalopathy KCNA6-associated epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:kcna6_related_neurodevelopmenta_disorder KCNA6-related neurodevelopmenta disorder Supplemental_disease_name DISEASE_NAME:kcnab2_related_disorder KCNAB2-related disorder Supplemental_disease_name DISEASE_NAME:kcnab2_related_epilepsy KCNAB2-related epilepsy Supplemental_disease_name DISEASE_NAME:kcnab3_related_disorder KCNAB3-related disorder Supplemental_disease_name DISEASE_NAME:kcnb1_related_disorder KCNB1-related disorder Supplemental_disease_name DISEASE_NAME:kcnb2_associated_neurodevelopmental_disorder KCNB2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kcnb2_related_disorder KCNB2-related disorder Supplemental_disease_name DISEASE_NAME:kcnc1_related_disorder KCNC1-related disorder Supplemental_disease_name DISEASE_NAME:kcnc2_related_disorder KCNC2-related disorder Supplemental_disease_name DISEASE_NAME:kcnc3_related_disorder KCNC3-related disorder Supplemental_disease_name DISEASE_NAME:kcnd1_associated_seizure_disorder KCND1-associated seizure disorder Supplemental_disease_name DISEASE_NAME:kcnd2_associated_neurodevelopmental_syndrome KCND2-associated neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:kcnd2_related_disorder KCND2-related disorder Supplemental_disease_name DISEASE_NAME:kcnd2_related_neurodevelopmental_disorder KCND2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kcnd2_related_neurodevelopmental_disorder_with_or_without_seizures KCND2-related neurodevelopmental disorder with or without seizures Supplemental_disease_name DISEASE_NAME:kcnd3_related_disorder KCND3-related disorder Supplemental_disease_name DISEASE_NAME:kcne1_related_disorder KCNE1-related disorder Supplemental_disease_name DISEASE_NAME:kcne1b_related_condition KCNE1B-related condition Supplemental_disease_name DISEASE_NAME:kcne2_related_disorder KCNE2-related disorder Supplemental_disease_name DISEASE_NAME:kcne3_related_disorder KCNE3-related disorder Supplemental_disease_name DISEASE_NAME:kcne5_related_disorder KCNE5-related disorder Supplemental_disease_name DISEASE_NAME:kcnh1_associated_disorder KCNH1 associated disorder Supplemental_disease_name DISEASE_NAME:kcnh1_related_disorder KCNH1-related disorder Supplemental_disease_name DISEASE_NAME:kcnh1_related_neurodevelopmental_disorder_with_multiple_anomalies KCNH1-related neurodevelopmental disorder with multiple anomalies Supplemental_disease_name DISEASE_NAME:kcnh1_related_phenotype KCNH1-related phenotype Supplemental_disease_name DISEASE_NAME:kcnh2_related_disorder KCNH2-related disorder Supplemental_disease_name DISEASE_NAME:kcnh5_related_disorder KCNH5-related disorder Supplemental_disease_name DISEASE_NAME:kcnh7_related_disorder KCNH7-related disorder Supplemental_disease_name DISEASE_NAME:kcnip4_related_disorder KCNIP4-related disorder Supplemental_disease_name DISEASE_NAME:kcnj10_related_disorder KCNJ10-related disorder Supplemental_disease_name DISEASE_NAME:kcnj11_related_disorder KCNJ11-related disorder Supplemental_disease_name DISEASE_NAME:kcnj12_related_disorder KCNJ12-related disorder Supplemental_disease_name DISEASE_NAME:kcnj13_related_condition KCNJ13-related condition Supplemental_disease_name DISEASE_NAME:kcnj16_related_disorder KCNJ16-related disorder Supplemental_disease_name DISEASE_NAME:kcnj18_related_disorder KCNJ18-related disorder Supplemental_disease_name DISEASE_NAME:kcnj1_related_disorder KCNJ1-related disorder Supplemental_disease_name DISEASE_NAME:kcnj2_related_disorder KCNJ2-related disorder Supplemental_disease_name DISEASE_NAME:kcnj5_related_disorder KCNJ5-related disorder Supplemental_disease_name DISEASE_NAME:kcnj6_related_disorder KCNJ6-related disorder Supplemental_disease_name DISEASE_NAME:kcnj8_related_disorder KCNJ8-related disorder Supplemental_disease_name DISEASE_NAME:kcnk18_related_disorder KCNK18-related disorder Supplemental_disease_name DISEASE_NAME:kcnk18_related_neurodevelopmental_disorder KCNK18-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kcnk3_related_disorder KCNK3-related disorder Supplemental_disease_name DISEASE_NAME:kcnk4_related_disorder KCNK4-related disorder Supplemental_disease_name DISEASE_NAME:kcnk5_related_disorder KCNK5-related disorder Supplemental_disease_name DISEASE_NAME:kcnk9_related_disorder KCNK9-related disorder Supplemental_disease_name DISEASE_NAME:kcnma1_related_disorder KCNMA1-related disorder Supplemental_disease_name DISEASE_NAME:kcnmb1_related_disorder KCNMB1-related disorder Supplemental_disease_name DISEASE_NAME:kcnn2_related_disorder KCNN2-related disorder Supplemental_disease_name DISEASE_NAME:kcnn2_related_neurodevelopmental_movement_disorder KCNN2-related Neurodevelopmental movement disorder Supplemental_disease_name DISEASE_NAME:kcnn3_related_disorder KCNN3-related disorder Supplemental_disease_name DISEASE_NAME:kcnn4_related_disorder KCNN4-related disorder Supplemental_disease_name DISEASE_NAME:kcnq1_related_disorder KCNQ1-related disorder Supplemental_disease_name DISEASE_NAME:kcnq1_related_epilepsy KCNQ1-related epilepsy Supplemental_disease_name DISEASE_NAME:kcnq1ot1_related_disorder KCNQ1OT1-related disorder Supplemental_disease_name DISEASE_NAME:kcnq2_related_disorders KCNQ2-Related Disorders Supplemental_disease_name DISEASE_NAME:kcnq3_associated_disorder KCNQ3-associated disorder Supplemental_disease_name DISEASE_NAME:kcnq3_related_autism_and_developmental_disability KCNQ3-related Autism and developmental disability Supplemental_disease_name DISEASE_NAME:kcnq3_related_developmental_disability KCNQ3-related developmental disability Supplemental_disease_name DISEASE_NAME:kcnq3_related_disorder KCNQ3-related disorder Supplemental_disease_name DISEASE_NAME:kcnq4_related_disorder KCNQ4-related disorder Supplemental_disease_name DISEASE_NAME:kcnq5_related_disorder KCNQ5-related disorder Supplemental_disease_name DISEASE_NAME:kcns3_related_disorder KCNS3-related disorder Supplemental_disease_name DISEASE_NAME:kcnt1_related_channelopathy KCNT1-related channelopathy Supplemental_disease_name DISEASE_NAME:kcnt1_related_disorder KCNT1-related disorder Supplemental_disease_name DISEASE_NAME:kcnt2_related_disorder KCNT2-related disorder Supplemental_disease_name DISEASE_NAME:kcnv2_related_disorder KCNV2-related disorder Supplemental_disease_name DISEASE_NAME:kcq1_related_disorders KCQ1-related disorders Supplemental_disease_name DISEASE_NAME:kctd13_related_disorder KCTD13-related disorder Supplemental_disease_name DISEASE_NAME:kctd17_related_disorder KCTD17-related disorder Supplemental_disease_name DISEASE_NAME:kctd18_related_disorder KCTD18-related disorder Supplemental_disease_name DISEASE_NAME:kctd1_related_disorder KCTD1-related disorder Supplemental_disease_name DISEASE_NAME:kctd3_related_disorder KCTD3-related disorder Supplemental_disease_name DISEASE_NAME:kctd7_related_disorder KCTD7-related disorder Supplemental_disease_name DISEASE_NAME:kdelr2_related_disorder KDELR2-related disorder Supplemental_disease_name DISEASE_NAME:kdf1_related_disorder KDF1-related disorder Supplemental_disease_name DISEASE_NAME:kdm1a_related_disorder KDM1A-related disorder Supplemental_disease_name DISEASE_NAME:kdm2a_related_condition KDM2A related condition Supplemental_disease_name DISEASE_NAME:kdm2a_related_disorder KDM2A-related disorder Supplemental_disease_name DISEASE_NAME:kdm2a_related_neurodevelopmental_disorder KDM2A-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kdm2b_gene_mutation KDM2B Gene Mutation Supplemental_disease_name DISEASE_NAME:kdm2b_related_disorder KDM2B-related disorder Supplemental_disease_name DISEASE_NAME:kdm2b_related_syndrome KDM2B-related syndrome Supplemental_disease_name DISEASE_NAME:kdm3a_related_disorder KDM3A-related disorder Supplemental_disease_name DISEASE_NAME:kdm3b_related_disorder KDM3B-related disorder Supplemental_disease_name DISEASE_NAME:kdm4b_related_disorder KDM4B-related disorder Supplemental_disease_name DISEASE_NAME:kdm4c_related_disorder KDM4C-related disorder Supplemental_disease_name DISEASE_NAME:kdm5a_associated_neurodevelopmental_syndrome KDM5A-associated neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:kdm5a_related_disorder KDM5A-related disorder Supplemental_disease_name DISEASE_NAME:kdm5a_related_neurodevelopmental_disorder_with_autism KDM5A-related Neurodevelopmental disorder with autism Supplemental_disease_name DISEASE_NAME:kdm5b_related_disorder KDM5B-related disorder Supplemental_disease_name DISEASE_NAME:kdm5c_related_disorder KDM5C-related disorder Supplemental_disease_name DISEASE_NAME:kdm5c_related_x_linked_syndromic_intellectual_disability KDM5C-related X-linked syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:kdm6a_related_disorder KDM6A-related disorder Supplemental_disease_name DISEASE_NAME:kdm6b_related_disorder KDM6B-related disorder Supplemental_disease_name DISEASE_NAME:kdm6b_related_neurodevelopmental_disorder KDM6B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kdr_related_disorder KDR-related disorder Supplemental_disease_name DISEASE_NAME:kel6_antigen Kel6 antigen Supplemental_disease_name DISEASE_NAME:kel_related_disorder KEL-related disorder Supplemental_disease_name DISEASE_NAME:kell_blood_group_system Kell blood group system Supplemental_disease_name DISEASE_NAME:kell_k_k_blood_group_polymorphism KELL K/k BLOOD GROUP POLYMORPHISM Supplemental_disease_name DISEASE_NAME:kell_null_phenotype KELL-NULL PHENOTYPE Supplemental_disease_name DISEASE_NAME:keloid_formation Keloid formation Supplemental_disease_name DISEASE_NAME:kennedy_disease_androgen_resistance_syndrome Kennedy disease;Androgen resistance syndrome Supplemental_disease_name DISEASE_NAME:kennedy_disease_androgen_resistance_syndrome_hypospadias_1_x_linked_familial_prostate_cancer_partial_androgen_insensitivity_syndrome Kennedy disease;Androgen resistance syndrome;Hypospadias 1, X-linked;Familial prostate cancer;Partial androgen insensitivity syndrome Supplemental_disease_name DISEASE_NAME:kennedy_disease_androgen_resistance_syndrome_hypospadias_1_x_linked_partial_androgen_insensitivity_syndrome_prostate_cancer Kennedy disease;Androgen resistance syndrome;Hypospadias 1, X-linked;Partial androgen insensitivity syndrome;Prostate cancer Supplemental_disease_name DISEASE_NAME:kennedy_disease_hypospadias_1_x_linked_partial_androgen_insensitivity_syndrome_androgen_resistance_syndrome_prostate_cancer Kennedy disease;Hypospadias 1, X-linked;Partial androgen insensitivity syndrome;Androgen resistance syndrome;Prostate cancer Supplemental_disease_name DISEASE_NAME:kennedy_disease_hypospadias_1_x_linked_partial_androgen_insensitivity_syndrome_prostate_cancer_androgen_resistance_syndrome Kennedy disease;Hypospadias 1, X-linked;Partial androgen insensitivity syndrome;Prostate cancer;Androgen resistance syndrome Supplemental_disease_name DISEASE_NAME:kennedy_disease_hypospadias_1_x_linked_partial_androgen_insensitivity_syndrome_prostate_cancer_hereditary_x_linked_3_androgen_resistance_syndrome Kennedy disease;Hypospadias 1, X-linked;Partial androgen insensitivity syndrome;Prostate cancer, hereditary, X-linked 3;Androgen resistance syndrome Supplemental_disease_name DISEASE_NAME:keppen_lubinsky_syndrome Keppen-Lubinsky syndrome Supplemental_disease_name DISEASE_NAME:kera_related_disorder KERA-related disorder Supplemental_disease_name DISEASE_NAME:keratinocytic_non_epidermolytic_nevus Keratinocytic non-epidermolytic nevus Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria Keratitis fugax hereditaria Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_chronic_infantile_neurological_cutaneous_and_articular_syndrome_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1 Keratitis fugax hereditaria;Chronic infantile neurological, cutaneous and articular syndrome;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Keratitis fugax hereditaria;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_chronic_infantile_neurological_cutaneous_and_articular_syndrome Keratitis fugax hereditaria;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_hearing_loss_autosomal_dominant_34_with_or_without_inflammation Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Hearing loss, autosomal dominant 34, with or without inflammation Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_familial_cold_autoinflammatory_syndrome_1_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome Keratitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1 Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome_familial_cold_autoinflammatory_syndrome_1 Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome;Familial cold autoinflammatory syndrome 1 Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_amyloid_nephropathy_with_urticaria_and_deafness_familial_cold_autoinflammatory_syndrome_1_chronic_infantile_neurological_cutaneous_and_articular_syndrome Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome 1;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:keratitis_fugax_hereditaria_hearing_loss_autosomal_dominant_34_with_or_without_inflammation_familial_cold_autoinflammatory_syndrome_1_familial_amyloid_nephropathy_with_urticaria_and_deafness_chronic_infantile_neurological_cutaneous_and_articular_syndrome Keratitis fugax hereditaria;Hearing loss, autosomal dominant 34, with or without inflammation;Familial cold autoinflammatory syndrome 1;Familial amyloid nephropathy with urticaria AND deafness;Chronic infantile neurological, cutaneous and articular syndrome Supplemental_disease_name DISEASE_NAME:keratitis_ichthyosis_deafness_syndrome Keratitis-ichthyosis-deafness syndrome Supplemental_disease_name DISEASE_NAME:keratoconus_1 Keratoconus 1 Supplemental_disease_name DISEASE_NAME:keratoconus_1_craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome Keratoconus 1;Craniofacial anomalies and anterior segment dysgenesis syndrome Supplemental_disease_name DISEASE_NAME:keratoconus_5 Keratoconus 5 Supplemental_disease_name DISEASE_NAME:keratoconus_9 Keratoconus 9 Supplemental_disease_name DISEASE_NAME:keratoderma_ichthyosis_deafness_syndrome_autosomal_recessive Keratoderma-ichthyosis-deafness syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:keratoderma_ichthyosis_deafness_syndrome_autosomal_recessive_cholestasis_progressive_familial_intrahepatic_12_arthrogryposis_renal_dysfunction_and_cholestasis_1 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1 Supplemental_disease_name DISEASE_NAME:keratoderma_with_scleroatrophy_of_the_extremities Keratoderma with scleroatrophy of the extremities Supplemental_disease_name DISEASE_NAME:keratolytic_winter_erythema Keratolytic winter erythema Supplemental_disease_name DISEASE_NAME:keratosis_follicularis_acrokeratosis_verruciformis_of_hopf Keratosis follicularis;Acrokeratosis verruciformis of Hopf Supplemental_disease_name DISEASE_NAME:keratosis_follicularis_spinulosa_decalvans_x_linked Keratosis follicularis spinulosa decalvans, X-linked Supplemental_disease_name DISEASE_NAME:keratosis_linearis_ichthyosis_congenita_sclerosing_keratoderma_syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Supplemental_disease_name DISEASE_NAME:keratosis_linearis_ichthyosis_congenita_sclerosing_keratoderma_syndrome_proteasome_associated_autoinflammatory_syndrome_2 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome;Proteasome-associated autoinflammatory syndrome 2 Supplemental_disease_name DISEASE_NAME:keratosis_palmoplantaris_striata_2_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_arrhythmogenic_right_ventricular_dysplasia_8_lethal_acantholytic_epidermolysis_bullosa_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Keratosis palmoplantaris striata 2;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8;Lethal acantholytic epidermolysis bullosa;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:keratosis_palmoplantaris_striata_2_arrhythmogenic_right_ventricular_dysplasia_8_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_lethal_acantholytic_epidermolysis_bullosa Keratosis palmoplantaris striata 2;Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Lethal acantholytic epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:keratosis_palmoplantaris_striata_2_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_dysplasia_8_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_lethal_acantholytic_epidermolysis_bullosa Keratosis palmoplantaris striata 2;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Lethal acantholytic epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:keratosis_pilaris Keratosis pilaris Supplemental_disease_name DISEASE_NAME:keratosis_pilaris_atrophicans_developmental_dysplasia_of_the_hip_3 Keratosis pilaris atrophicans;Developmental dysplasia of the hip 3 Supplemental_disease_name DISEASE_NAME:ketoacidosis_due_to_monocarboxylate_transporter_1_deficiency Ketoacidosis due to monocarboxylate transporter-1 deficiency Supplemental_disease_name DISEASE_NAME:ketotic_hypoglycaemia ketotic hypoglycaemia Supplemental_disease_name DISEASE_NAME:ketotic_hypoglycemia Ketotic hypoglycemia Supplemental_disease_name DISEASE_NAME:keutel_syndrome Keutel syndrome Supplemental_disease_name DISEASE_NAME:khan_khan_katsanis_syndrome Khan-Khan-Katsanis syndrome Supplemental_disease_name DISEASE_NAME:khdc3l_related_condition KHDC3L-related condition Supplemental_disease_name DISEASE_NAME:khk_related_disorder KHK-related disorder Supplemental_disease_name DISEASE_NAME:kiaa0232_related_disorder KIAA0232-related disorder Supplemental_disease_name DISEASE_NAME:kiaa0319_related_disorder KIAA0319-related disorder Supplemental_disease_name DISEASE_NAME:kiaa0355_related_condition KIAA0355-related condition Supplemental_disease_name DISEASE_NAME:kiaa0586_related_disorder KIAA0586-related disorder Supplemental_disease_name DISEASE_NAME:kiaa0753_related_disorder KIAA0753-related disorder Supplemental_disease_name DISEASE_NAME:kiaa0825_related_disorder KIAA0825-related disorder Supplemental_disease_name DISEASE_NAME:kiaa1328_related_disorder KIAA1328-related disorder Supplemental_disease_name DISEASE_NAME:kiaa1549_related_disorder KIAA1549-related disorder Supplemental_disease_name DISEASE_NAME:kiaa1586_related_disorder KIAA1586-related disorder Supplemental_disease_name DISEASE_NAME:kidd_blood_polymorphism_jk_a_jk_b KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b) Supplemental_disease_name DISEASE_NAME:kidins220_related_disorder KIDINS220-related disorder Supplemental_disease_name DISEASE_NAME:kidney_damage Kidney damage Supplemental_disease_name DISEASE_NAME:kidney_damage_rhabdomyolysis_myopathy Kidney damage;Rhabdomyolysis;Myopathy Supplemental_disease_name DISEASE_NAME:kidney_disorder Kidney disorder Supplemental_disease_name DISEASE_NAME:kidney_disorder_tooth_agenesis Kidney disorder;Tooth agenesis Supplemental_disease_name DISEASE_NAME:kidney_renal_clear_cell_carcinoma Kidney renal clear cell carcinoma Supplemental_disease_name DISEASE_NAME:kidney_renal_papillary_cell_carcinoma Kidney renal papillary cell carcinoma Supplemental_disease_name DISEASE_NAME:kidney_stone Kidney stone Supplemental_disease_name DISEASE_NAME:kidney_stone_nephrocalcinosis Kidney stone;Nephrocalcinosis Supplemental_disease_name DISEASE_NAME:kif11_related_disorder KIF11-related disorder Supplemental_disease_name DISEASE_NAME:kif12_related_disorder KIF12-related disorder Supplemental_disease_name DISEASE_NAME:kif14_related_disorder KIF14-related disorder Supplemental_disease_name DISEASE_NAME:kif16b_related_intellectual_disability KIF16B-related Intellectual Disability Supplemental_disease_name DISEASE_NAME:kif17_related_disorder KIF17-related disorder Supplemental_disease_name DISEASE_NAME:kif1a_related_disorder KIF1A-related disorder Supplemental_disease_name DISEASE_NAME:kif1a_related_neurological_disorder KIF1A related neurological disorder Supplemental_disease_name DISEASE_NAME:kif1b_related_disorder KIF1B-related disorder Supplemental_disease_name DISEASE_NAME:kif1c_related_disorder KIF1C-related disorder Supplemental_disease_name DISEASE_NAME:kif20a_related_disorder KIF20A-related disorder Supplemental_disease_name DISEASE_NAME:kif21a_related_disorder KIF21A-related disorder Supplemental_disease_name DISEASE_NAME:kif21b_associated_neurodevelopmental_disorder KIF21B-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kif21b_related_disorder KIF21B-related disorder Supplemental_disease_name DISEASE_NAME:kif21b_related_neurodevelopmental_disorder KIF21B-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kif22_related_disorder KIF22-related disorder Supplemental_disease_name DISEASE_NAME:kif23_related_disorder KIF23-related disorder Supplemental_disease_name DISEASE_NAME:kif26b_related_disorder KIF26B-related disorder Supplemental_disease_name DISEASE_NAME:kif2a_related_disorder KIF2A-related disorder Supplemental_disease_name DISEASE_NAME:kif3a_related_disorder KIF3A-related disorder Supplemental_disease_name DISEASE_NAME:kif3b_related_disorder KIF3B-related disorder Supplemental_disease_name DISEASE_NAME:kif3c_related_neurodevelopmental_disorder KIF3C-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kif4a_related_disorder KIF4A-related disorder Supplemental_disease_name DISEASE_NAME:kif4b_related_disorder KIF4B-related disorder Supplemental_disease_name DISEASE_NAME:kif5a_related_amyotrophic_lateral_sclerosis KIF5A-related amyotrophic lateral sclerosis Supplemental_disease_name DISEASE_NAME:kif5a_related_disorder KIF5A-related disorder Supplemental_disease_name DISEASE_NAME:kif5a_related_intractable_neonatal_myoclonus KIF5A-related intractable neonatal myoclonus Supplemental_disease_name DISEASE_NAME:kif5b_related_developmental_disorder KIF5B-related developmental disorder Supplemental_disease_name DISEASE_NAME:kif5b_related_disease KIF5B-related disease Supplemental_disease_name DISEASE_NAME:kif5b_related_disorder KIF5B-related disorder Supplemental_disease_name DISEASE_NAME:kif5b_related_osteogenesis_imperfecta_syndrome KIF5B-related osteogenesis imperfecta syndrome Supplemental_disease_name DISEASE_NAME:kif5b_related_skeletal_dysplasia KIF5B-related skeletal dysplasia Supplemental_disease_name DISEASE_NAME:kif5c_related_disorder KIF5C-related disorder Supplemental_disease_name DISEASE_NAME:kif6_related_disorder KIF6-related disorder Supplemental_disease_name DISEASE_NAME:kif7_related_ciliopathy_spectrum_disorder KIF7-related ciliopathy spectrum disorder Supplemental_disease_name DISEASE_NAME:kif7_related_disorder KIF7-related disorder Supplemental_disease_name DISEASE_NAME:kifap3_related_disorder KIFAP3-related disorder Supplemental_disease_name DISEASE_NAME:kifbp_related_disorder KIFBP-related disorder Supplemental_disease_name DISEASE_NAME:kilquist_syndrome Kilquist syndrome Supplemental_disease_name DISEASE_NAME:kilquist_syndrome_hearing_loss_autosomal_dominant_78_delpire_mcneill_syndrome Kilquist syndrome;Hearing loss, autosomal dominant 78;Delpire-McNeill syndrome Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_central_core_myopathy King Denborough syndrome;Central core myopathy Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia King Denborough syndrome;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1 King Denborough syndrome;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion King Denborough syndrome;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1 King Denborough syndrome;Central core myopathy;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia King Denborough syndrome;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion King Denborough syndrome;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia King Denborough syndrome;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1 King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1 King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1 King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Central core myopathy;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;Central core myopathy Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Central core myopathy Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia King Denborough syndrome;Congenital myopathy with fiber type disproportion;Central core myopathy;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_malignant_hyperthermia_susceptibility_to_1 King Denborough syndrome;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy King Denborough syndrome;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;Malignant hyperthermia, susceptibility to, 1;Central core myopathy Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Central core myopathy Supplemental_disease_name DISEASE_NAME:king_denborough_syndrome_malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:kininogen_deficiency_total KININOGEN DEFICIENCY, TOTAL Supplemental_disease_name DISEASE_NAME:kir2dl1_related_disorder KIR2DL1-related disorder Supplemental_disease_name DISEASE_NAME:kirrel1_related_disorder KIRREL1-related disorder Supplemental_disease_name DISEASE_NAME:kirrel3_related_disorder KIRREL3-related disorder Supplemental_disease_name DISEASE_NAME:kiss1_related_disorder KISS1-related disorder Supplemental_disease_name DISEASE_NAME:kiss1r_related_disorder KISS1R-related disorder Supplemental_disease_name DISEASE_NAME:kit_related_disorder KIT-related disorder Supplemental_disease_name DISEASE_NAME:kitlg_related_disorder KITLG-related disorder Supplemental_disease_name DISEASE_NAME:kiz_related_disorder KIZ-related disorder Supplemental_disease_name DISEASE_NAME:kiz_related_retinopathy KIZ-related retinopathy Supplemental_disease_name DISEASE_NAME:kl_related_disorder KL-related disorder Supplemental_disease_name DISEASE_NAME:klb_related_disorder KLB-related disorder Supplemental_disease_name DISEASE_NAME:klc2_related_disorder KLC2-related disorder Supplemental_disease_name DISEASE_NAME:kleefstra_like_syndrome Kleefstra-like syndrome Supplemental_disease_name DISEASE_NAME:kleefstra_syndrome_due_to_a_point_mutation Kleefstra syndrome due to a point mutation Supplemental_disease_name DISEASE_NAME:klf10_related_disorder KLF10-related disorder Supplemental_disease_name DISEASE_NAME:klf11_related_disorder KLF11-related disorder Supplemental_disease_name DISEASE_NAME:klf14_related_disorder KLF14-related disorder Supplemental_disease_name DISEASE_NAME:klf1_related_disorder KLF1-related disorder Supplemental_disease_name DISEASE_NAME:klf4_related_disorder KLF4-related disorder Supplemental_disease_name DISEASE_NAME:klf7_related_disorder KLF7-related disorder Supplemental_disease_name DISEASE_NAME:klf7_related_neurodevelopmental_disorder KLF7-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:klhdc8b_related_disorder KLHDC8B-related disorder Supplemental_disease_name DISEASE_NAME:klhl10_related_disorder KLHL10-related disorder Supplemental_disease_name DISEASE_NAME:klhl15_related_disorder KLHL15-related disorder Supplemental_disease_name DISEASE_NAME:klhl17_related_condition KLHL17-related condition Supplemental_disease_name DISEASE_NAME:klhl1_related_disorder KLHL1-related disorder Supplemental_disease_name DISEASE_NAME:klhl20_related_disorder KLHL20-related disorder Supplemental_disease_name DISEASE_NAME:klhl21_related_disorder KLHL21-related disorder Supplemental_disease_name DISEASE_NAME:klhl24_related_disorder KLHL24-related disorder Supplemental_disease_name DISEASE_NAME:klhl3_related_disorder KLHL3-related disorder Supplemental_disease_name DISEASE_NAME:klhl40_related_disorder KLHL40-related disorder Supplemental_disease_name DISEASE_NAME:klhl41_related_disorder KLHL41-related disorder Supplemental_disease_name DISEASE_NAME:klhl7_related_disorder KLHL7-related disorder Supplemental_disease_name DISEASE_NAME:klhl9_related_disorder KLHL9-related disorder Supplemental_disease_name DISEASE_NAME:klhl9_related_distal_myopathy KLHL9-related distal myopathy Supplemental_disease_name DISEASE_NAME:klippel_feil_anomaly_myopathy_facial_dysmorphism_syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_1_autosomal_dominant Klippel-Feil syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_1_autosomal_dominant_isolated_microphthalmia_4_leber_congenital_amaurosis_17_microphthalmia_isolated_with_coloboma_6 Klippel-Feil syndrome 1, autosomal dominant;Isolated microphthalmia 4;Leber congenital amaurosis 17;Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_1_autosomal_dominant_isolated_microphthalmia_4_microphthalmia_isolated_with_coloboma_6_leber_congenital_amaurosis_17 Klippel-Feil syndrome 1, autosomal dominant;Isolated microphthalmia 4;Microphthalmia, isolated, with coloboma 6;Leber congenital amaurosis 17 Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_1_autosomal_dominant_leber_congenital_amaurosis_17_isolated_microphthalmia_4_microphthalmia_isolated_with_coloboma_6 Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17;Isolated microphthalmia 4;Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_1_autosomal_dominant_leber_congenital_amaurosis_17_microphthalmia_isolated_with_coloboma_6_isolated_microphthalmia_4 Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17;Microphthalmia, isolated, with coloboma 6;Isolated microphthalmia 4 Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_1_autosomal_dominant_microphthalmia_isolated_with_coloboma_6_isolated_microphthalmia_4_leber_congenital_amaurosis_17 Klippel-Feil syndrome 1, autosomal dominant;Microphthalmia, isolated, with coloboma 6;Isolated microphthalmia 4;Leber congenital amaurosis 17 Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_1_autosomal_dominant_microphthalmia_isolated_with_coloboma_6_isolated_microphthalmia_4_leber_congenital_amaurosis_17_multiple_synostoses_syndrome_4 Klippel-Feil syndrome 1, autosomal dominant;Microphthalmia, isolated, with coloboma 6;Isolated microphthalmia 4;Leber congenital amaurosis 17;Multiple synostoses syndrome 4 Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_1_autosomal_dominant_microphthalmia_isolated_with_coloboma_6_leber_congenital_amaurosis_17_isolated_microphthalmia_4 Klippel-Feil syndrome 1, autosomal dominant;Microphthalmia, isolated, with coloboma 6;Leber congenital amaurosis 17;Isolated microphthalmia 4 Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_2_autosomal_recessive Klippel-Feil syndrome 2, autosomal recessive Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_3_autosomal_dominant Klippel-Feil syndrome 3, autosomal dominant Supplemental_disease_name DISEASE_NAME:klippel_feil_syndrome_3_autosomal_dominant_isolated_microphthalmia_7_microphthalmia_isolated_with_coloboma_6 Klippel-Feil syndrome 3, autosomal dominant;Isolated microphthalmia 7;Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:klippel_trenaunay_like_syndrome Klippel-Trenaunay-like-Syndrome Supplemental_disease_name DISEASE_NAME:klk3_related_disorder KLK3-related disorder Supplemental_disease_name DISEASE_NAME:klk4_related_disorder KLK4-related disorder Supplemental_disease_name DISEASE_NAME:klkb1_related_disorder KLKB1-related disorder Supplemental_disease_name DISEASE_NAME:klln_related_disorder KLLN-related disorder Supplemental_disease_name DISEASE_NAME:kmo_related_congenital_malformation_syndrome KMO-related congenital malformation syndrome Supplemental_disease_name DISEASE_NAME:kmo_related_disorder KMO-related disorder Supplemental_disease_name DISEASE_NAME:kmt2a_related_disorder KMT2A-related disorder Supplemental_disease_name DISEASE_NAME:kmt2b_related_disorder KMT2B-related disorder Supplemental_disease_name DISEASE_NAME:kmt2c_related_disorder KMT2C-related disorder Supplemental_disease_name DISEASE_NAME:kmt2c_related_ndd KMT2C-related NDD Supplemental_disease_name DISEASE_NAME:kmt2d_related_disorder KMT2D-related disorder Supplemental_disease_name DISEASE_NAME:kmt2e_related_disorder KMT2E-related disorder Supplemental_disease_name DISEASE_NAME:kmt5b_related_disorder KMT5B-related disorder Supplemental_disease_name DISEASE_NAME:kmt5b_related_neurodevelopmental_disorder KMT5B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:kng1_related_disorder KNG1-related disorder Supplemental_disease_name DISEASE_NAME:knl1_related_disorder KNL1-related disorder Supplemental_disease_name DISEASE_NAME:knobloch_syndrome Knobloch syndrome Supplemental_disease_name DISEASE_NAME:knobloch_syndrome_1 Knobloch syndrome 1 Supplemental_disease_name DISEASE_NAME:knobloch_syndrome_1_hereditary_glaucoma_primary_closed_angle Knobloch syndrome 1;Hereditary glaucoma, primary closed-angle Supplemental_disease_name DISEASE_NAME:knobloch_syndrome_2 Knobloch syndrome 2 Supplemental_disease_name DISEASE_NAME:knops_blood_group_system KNOPS BLOOD GROUP SYSTEM Supplemental_disease_name DISEASE_NAME:knops_blood_group_system_malaria_susceptibility_to KNOPS BLOOD GROUP SYSTEM;Malaria, susceptibility to Supplemental_disease_name DISEASE_NAME:knuckle_pads_deafness_and_leukonychia_syndrome Knuckle pads, deafness AND leukonychia syndrome Supplemental_disease_name DISEASE_NAME:knuckle_pads_deafness_and_leukonychia_syndrome_palmoplantar_keratoderma_deafness_syndrome_mutilating_keratoderma Knuckle pads, deafness AND leukonychia syndrome;Palmoplantar keratoderma-deafness syndrome;Mutilating keratoderma Supplemental_disease_name DISEASE_NAME:kohlschutter_tonz_syndrome_like Kohlschutter-Tonz syndrome-like Supplemental_disease_name DISEASE_NAME:kohlschutter_tonz_syndrome_like_developmental_delay_with_dysmorphic_facies_and_dental_anomalies Kohlschutter-Tonz syndrome-like;Developmental delay with dysmorphic facies and dental anomalies Supplemental_disease_name DISEASE_NAME:kosaki_overgrowth_syndrome Kosaki overgrowth syndrome Supplemental_disease_name DISEASE_NAME:kowarski_syndrome Kowarski syndrome Supplemental_disease_name DISEASE_NAME:kpna3_related_condition KPNA3-related condition Supplemental_disease_name DISEASE_NAME:kpna4_related_condition KPNA4-related condition Supplemental_disease_name DISEASE_NAME:kpna7_related_disorder KPNA7-related disorder Supplemental_disease_name DISEASE_NAME:kptn_related_disorder KPTN-related disorder Supplemental_disease_name DISEASE_NAME:krabbe_disease_due_to_saposin_a_deficiency Krabbe disease due to saposin A deficiency Supplemental_disease_name DISEASE_NAME:krabbe_disease_due_to_saposin_a_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to_sphingolipid_activator_protein_1_deficiency_gaucher_disease_due_to_saposin_c_deficiency_combined_psap_deficiency Krabbe disease due to saposin A deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Sphingolipid activator protein 1 deficiency;Gaucher disease due to saposin C deficiency;Combined PSAP deficiency Supplemental_disease_name DISEASE_NAME:kras_related_disorder KRAS-related disorder Supplemental_disease_name DISEASE_NAME:kras_related_rasopathy KRAS-related RASopathy Supplemental_disease_name DISEASE_NAME:kremen1_related_disorder KREMEN1-related disorder Supplemental_disease_name DISEASE_NAME:krit1_related_disorder KRIT1-related disorder Supplemental_disease_name DISEASE_NAME:krt10_related_disorder KRT10-related disorder Supplemental_disease_name DISEASE_NAME:krt12_related_disorder KRT12-related disorder Supplemental_disease_name DISEASE_NAME:krt13_related_disorder KRT13-related disorder Supplemental_disease_name DISEASE_NAME:krt14_related_disorder KRT14-related disorder Supplemental_disease_name DISEASE_NAME:krt16_related_disorder KRT16-related disorder Supplemental_disease_name DISEASE_NAME:krt17_related_disorder KRT17-related disorder Supplemental_disease_name DISEASE_NAME:krt1_related_disorder KRT1-related disorder Supplemental_disease_name DISEASE_NAME:krt20_related_disorder KRT20-related disorder Supplemental_disease_name DISEASE_NAME:krt25_related_disorder KRT25-related disorder Supplemental_disease_name DISEASE_NAME:krt2_related_disorder KRT2-related disorder Supplemental_disease_name DISEASE_NAME:krt3_related_disorder KRT3-related disorder Supplemental_disease_name DISEASE_NAME:krt4_related_disorder KRT4-related disorder Supplemental_disease_name DISEASE_NAME:krt5_related_disorder KRT5-related disorder Supplemental_disease_name DISEASE_NAME:krt6a_related_disorder KRT6A-related disorder Supplemental_disease_name DISEASE_NAME:krt6b_related_disorder KRT6B-related disorder Supplemental_disease_name DISEASE_NAME:krt6c_related_disorder KRT6C-related disorder Supplemental_disease_name DISEASE_NAME:krt71_related_disorder KRT71-related disorder Supplemental_disease_name DISEASE_NAME:krt74_related_disorder KRT74-related disorder Supplemental_disease_name DISEASE_NAME:krt75_related_disorder KRT75-related disorder Supplemental_disease_name DISEASE_NAME:krt80_related_disorder KRT80-related disorder Supplemental_disease_name DISEASE_NAME:krt81_related_disorder KRT81-related disorder Supplemental_disease_name DISEASE_NAME:krt83_related_disorder KRT83-related disorder Supplemental_disease_name DISEASE_NAME:krt85_related_disorder KRT85-related disorder Supplemental_disease_name DISEASE_NAME:krt86_related_disorder KRT86-related disorder Supplemental_disease_name DISEASE_NAME:krt8_related_disorder KRT8-related disorder Supplemental_disease_name DISEASE_NAME:krt9_related_disorder KRT9-related disorder Supplemental_disease_name DISEASE_NAME:ksr2_related_disorder KSR2-related disorder Supplemental_disease_name DISEASE_NAME:kufor_rakeb_syndrome_autosomal_recessive_spastic_paraplegia_type_78 Kufor-Rakeb syndrome;Autosomal recessive spastic paraplegia type 78 Supplemental_disease_name DISEASE_NAME:kufor_rakeb_syndrome_autosomal_recessive_spastic_paraplegia_type_78_atpase_cation_transporting_13a2_related_juvenile_neuronal_ceroid_lipofuscinosis Kufor-Rakeb syndrome;Autosomal recessive spastic paraplegia type 78;ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Supplemental_disease_name DISEASE_NAME:kugelberg_welander_disease_spinal_muscular_atrophy_type_ii_werdnig_hoffmann_disease_spinal_muscular_atrophy_type_iv Kugelberg-Welander disease;Spinal muscular atrophy, type II;Werdnig-Hoffmann disease;Spinal muscular atrophy, type IV Supplemental_disease_name DISEASE_NAME:kugelberg_welander_disease_werdnig_hoffmann_disease_spinal_muscular_atrophy_type_iv_spinal_muscular_atrophy_type_ii Kugelberg-Welander disease;Werdnig-Hoffmann disease;Spinal muscular atrophy, type IV;Spinal muscular atrophy, type II Supplemental_disease_name DISEASE_NAME:kuru_protection_against Kuru, protection against Supplemental_disease_name DISEASE_NAME:kury_isidor_syndrome Kury-Isidor syndrome Supplemental_disease_name DISEASE_NAME:kury_isidor_syndrome_bap1_related_tumor_predisposition_syndrome Kury-Isidor syndrome;BAP1-related tumor predisposition syndrome Supplemental_disease_name DISEASE_NAME:kury_isidor_syndrome_bap1_related_tumor_predisposition_syndrome_melanoma_uveal_susceptibility_to_2 Kury-Isidor syndrome;BAP1-related tumor predisposition syndrome;Melanoma, uveal, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:kury_isidor_syndrome_melanoma_uveal_susceptibility_to_2_bap1_related_tumor_predisposition_syndrome Kury-Isidor syndrome;Melanoma, uveal, susceptibility to, 2;BAP1-related tumor predisposition syndrome Supplemental_disease_name DISEASE_NAME:ky_related_disorder KY-related disorder Supplemental_disease_name DISEASE_NAME:kynu_related_disorder KYNU-related disorder Supplemental_disease_name DISEASE_NAME:l1cam_related_disorder L1CAM-related disorder Supplemental_disease_name DISEASE_NAME:l1cam_related_disorders L1CAM-related disorders Supplemental_disease_name DISEASE_NAME:l2hgdh_related_disorder L2HGDH-related disorder Supplemental_disease_name DISEASE_NAME:l3mbtl1_related_disorder L3MBTL1-related disorder Supplemental_disease_name DISEASE_NAME:l_ferritin_deficiency L-ferritin deficiency Supplemental_disease_name DISEASE_NAME:l_ferritin_deficiency_autosomal_recessive L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:l_ferritin_deficiency_hereditary_hyperferritinemia_with_congenital_cataracts_neuroferritinopathy L-ferritin deficiency;Hereditary hyperferritinemia with congenital cataracts;Neuroferritinopathy Supplemental_disease_name DISEASE_NAME:lacrimo_auriculo_dento_digital_syndrome Lacrimo-auriculo-dento-digital syndrome Supplemental_disease_name DISEASE_NAME:lacrimoauriculodentodigital_syndrome_3_congenital_absence_of_salivary_gland Lacrimoauriculodentodigital syndrome 3;Congenital absence of salivary gland Supplemental_disease_name DISEASE_NAME:lactase_persistence LACTASE PERSISTENCE Supplemental_disease_name DISEASE_NAME:lactate_dehydrogenase_b_deficiency Lactate dehydrogenase B deficiency Supplemental_disease_name DISEASE_NAME:lactate_dehydrogenase_deficiency Lactate dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:lactb2_related_condition LACTB2-related condition Supplemental_disease_name DISEASE_NAME:lactic_acidosis_propionic_acidemia_cardiomyopathy Lactic acidosis;Propionic acidemia;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:lactic_aciduria_due_to_d_lactic_acid Lactic aciduria due to D-lactic acid Supplemental_disease_name DISEASE_NAME:ladd_syndrome_1 LADD syndrome 1 Supplemental_disease_name DISEASE_NAME:lage3_related_disorder LAGE3-related disorder Supplemental_disease_name DISEASE_NAME:lama1_related_disorder LAMA1-related disorder Supplemental_disease_name DISEASE_NAME:lama2_related_disorder LAMA2-related disorder Supplemental_disease_name DISEASE_NAME:lama2_related_muscular_dystrophy LAMA2-related muscular dystrophy Supplemental_disease_name DISEASE_NAME:lama2_related_muscular_dystrophy_muscular_dystrophy_limb_girdle_autosomal_recessive_23 LAMA2-related muscular dystrophy;Muscular dystrophy, limb-girdle, autosomal recessive 23 Supplemental_disease_name DISEASE_NAME:lama3_related_disorder LAMA3-related disorder Supplemental_disease_name DISEASE_NAME:lama3_related_junctional_epidermolysis_bullosa LAMA3-Related Junctional Epidermolysis Bullosa Supplemental_disease_name DISEASE_NAME:lama4_related_disorder LAMA4-related disorder Supplemental_disease_name DISEASE_NAME:lama5_related_disorder LAMA5-related disorder Supplemental_disease_name DISEASE_NAME:lama5_related_multisystemic_syndrome LAMA5-related multisystemic syndrome Supplemental_disease_name DISEASE_NAME:lamb1_related_disorder LAMB1-related disorder Supplemental_disease_name DISEASE_NAME:lamb2_related_disorder LAMB2-related disorder Supplemental_disease_name DISEASE_NAME:lamb2_related_infantile_onset_nephrotic_syndrome LAMB2-related infantile-onset nephrotic syndrome Supplemental_disease_name DISEASE_NAME:lamb2_related_infantile_onset_nephrotic_syndrome_pierson_syndrome LAMB2-related infantile-onset nephrotic syndrome;Pierson syndrome Supplemental_disease_name DISEASE_NAME:lamb3_related_disorder LAMB3-related disorder Supplemental_disease_name DISEASE_NAME:lamb_shaffer_syndrome Lamb-Shaffer syndrome Supplemental_disease_name DISEASE_NAME:lambdoidal_craniosynostosis Lambdoidal craniosynostosis Supplemental_disease_name DISEASE_NAME:lambdoidal_craniosynostosis_chitayat_syndrome Lambdoidal craniosynostosis;Chitayat syndrome Supplemental_disease_name DISEASE_NAME:lamc1_associated_syndrome LAMC1-associated syndrome Supplemental_disease_name DISEASE_NAME:lamc1_related_autism_spectrum_disorder LAMC1-related autism spectrum disorder Supplemental_disease_name DISEASE_NAME:lamc1_related_disorder LAMC1-related disorder Supplemental_disease_name DISEASE_NAME:lamc2_related_disorder LAMC2-related disorder Supplemental_disease_name DISEASE_NAME:lamc3_related_disorder LAMC3-related disorder Supplemental_disease_name DISEASE_NAME:laminin_alpha_2_related_dystrophy Laminin alpha 2-related dystrophy Supplemental_disease_name DISEASE_NAME:laminopathy Laminopathy Supplemental_disease_name DISEASE_NAME:lamp2_related_disorder LAMP2-related disorder Supplemental_disease_name DISEASE_NAME:lamp3_related_disorder LAMP3-related disorder Supplemental_disease_name DISEASE_NAME:lamtor2_related_disorder LAMTOR2-related disorder Supplemental_disease_name DISEASE_NAME:landsteiner_wiener_phenotype Landsteiner-Wiener phenotype Supplemental_disease_name DISEASE_NAME:langer_mesomelic_dysplasia_syndrome Langer mesomelic dysplasia syndrome Supplemental_disease_name DISEASE_NAME:langereis_blood_group Langereis blood group Supplemental_disease_name DISEASE_NAME:langereis_blood_group_familial_pseudohyperkalemia_microphthalmia_isolated_with_coloboma_7_dyschromatosis_universalis_hereditaria_3 Langereis blood group;Familial pseudohyperkalemia;Microphthalmia, isolated, with coloboma 7;Dyschromatosis universalis hereditaria 3 Supplemental_disease_name DISEASE_NAME:langereis_blood_group_microphthalmia_isolated_with_coloboma_7_familial_pseudohyperkalemia_dyschromatosis_universalis_hereditaria_3 Langereis blood group;Microphthalmia, isolated, with coloboma 7;Familial pseudohyperkalemia;Dyschromatosis universalis hereditaria 3 Supplemental_disease_name DISEASE_NAME:language_delay_and_attention_deficit_hyperactivity_disorder_cognitive_impairment_with_or_without_cardiac_arrhythmia Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia Supplemental_disease_name DISEASE_NAME:language_disorder_dysarthria_parkinsonian_disorder Language disorder;Dysarthria;Parkinsonian disorder Supplemental_disease_name DISEASE_NAME:language_disorder_epileptic_encephalopathy_severe_global_developmental_delay Language disorder;Epileptic encephalopathy;Severe global developmental delay Supplemental_disease_name DISEASE_NAME:language_retardation Language retardation Supplemental_disease_name DISEASE_NAME:language_retardation_intellectual_deficiency Language retardation;intellectual deficiency Supplemental_disease_name DISEASE_NAME:large1_related_disorder LARGE1-related disorder Supplemental_disease_name DISEASE_NAME:large1_related_disorders LARGE1-Related Disorders Supplemental_disease_name DISEASE_NAME:large_fontanelles_anhydramnios Large fontanelles;Anhydramnios Supplemental_disease_name DISEASE_NAME:large_for_gestational_age Large for gestational age Supplemental_disease_name DISEASE_NAME:large_joint_dislocations_joint_hypermobility_hyperextensible_skin_cigarette_paper_scars_atrophic_scars Large joint dislocations;Joint hypermobility;Hyperextensible skin;Cigarette-paper scars;Atrophic scars Supplemental_disease_name DISEASE_NAME:laron_syndrome_with_elevated_serum_gh_binding_protein Laron syndrome with elevated serum GH-binding protein Supplemental_disease_name DISEASE_NAME:laron_syndrome_with_undetectable_serum_gh_binding_protein Laron syndrome with undetectable serum GH-binding protein Supplemental_disease_name DISEASE_NAME:laron_type_isolated_somatotropin_defect_hypercholesterolemia_familial_1_short_stature_due_to_growth_hormone_secretagogue_receptor_deficiency_short_stature_due_to_partial_ghr_deficiency Laron-type isolated somatotropin defect;Hypercholesterolemia, familial, 1;Short stature due to growth hormone secretagogue receptor deficiency;Short stature due to partial GHR deficiency Supplemental_disease_name DISEASE_NAME:laron_type_isolated_somatotropin_defect_short_stature_due_to_partial_ghr_deficiency Laron-type isolated somatotropin defect;Short stature due to partial GHR deficiency Supplemental_disease_name DISEASE_NAME:laron_type_isolated_somatotropin_defect_short_stature_due_to_partial_ghr_deficiency_hypercholesterolemia_familial_1 Laron-type isolated somatotropin defect;Short stature due to partial GHR deficiency;Hypercholesterolemia, familial, 1 Supplemental_disease_name DISEASE_NAME:larp7_related_disorder LARP7-related disorder Supplemental_disease_name DISEASE_NAME:lars1_related_disorder LARS1-related disorder Supplemental_disease_name DISEASE_NAME:lars2_related_disorder LARS2-related disorder Supplemental_disease_name DISEASE_NAME:lars2_related_disorders LARS2-Related Disorders Supplemental_disease_name DISEASE_NAME:larsen_like_syndrome_b3gat3_type_spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations Larsen-like syndrome, B3GAT3 type;Spondyloepiphyseal dysplasia with congenital joint dislocations Supplemental_disease_name DISEASE_NAME:larsen_syndrome_atelosteogenesis_type_i_boomerang_dysplasia_atelosteogenesis_type_iii Larsen syndrome;Atelosteogenesis type I;Boomerang dysplasia;Atelosteogenesis type III Supplemental_disease_name DISEASE_NAME:larsen_syndrome_boomerang_dysplasia_atelosteogenesis_type_i_spondylocarpotarsal_synostosis_syndrome_atelosteogenesis_type_iii Larsen syndrome;Boomerang dysplasia;Atelosteogenesis type I;Spondylocarpotarsal synostosis syndrome;Atelosteogenesis type III Supplemental_disease_name DISEASE_NAME:larsen_syndrome_spondylocarpotarsal_synostosis_syndrome_atelosteogenesis_type_i_boomerang_dysplasia_atelosteogenesis_type_iii Larsen syndrome;Spondylocarpotarsal synostosis syndrome;Atelosteogenesis type I;Boomerang dysplasia;Atelosteogenesis type III Supplemental_disease_name DISEASE_NAME:laryngeal_cancer Laryngeal cancer Supplemental_disease_name DISEASE_NAME:laryngo_onycho_cutaneous_syndrome Laryngo-onycho-cutaneous syndrome Supplemental_disease_name DISEASE_NAME:laryngo_onycho_cutaneous_syndrome_epidermolysis_bullosa_junctional_2a_intermediate_epidermolysis_bullosa_junctional_2b_severe Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe Supplemental_disease_name DISEASE_NAME:laryngo_onycho_cutaneous_syndrome_epidermolysis_bullosa_junctional_2a_intermediate_epidermolysis_bullosa_junctional_2b_severe_junctional_epidermolysis_bullosa_gravis_of_herlitz Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe;Junctional epidermolysis bullosa gravis of Herlitz Supplemental_disease_name DISEASE_NAME:laryngo_onycho_cutaneous_syndrome_epidermolysis_bullosa_junctional_2a_intermediate_junctional_epidermolysis_bullosa_gravis_of_herlitz_epidermolysis_bullosa_junctional_2b_severe Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2A, intermediate;Junctional epidermolysis bullosa gravis of Herlitz;Epidermolysis bullosa, junctional 2B, severe Supplemental_disease_name DISEASE_NAME:laryngo_onycho_cutaneous_syndrome_epidermolysis_bullosa_junctional_2b_severe_epidermolysis_bullosa_junctional_2a_intermediate Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2B, severe;Epidermolysis bullosa, junctional 2A, intermediate Supplemental_disease_name DISEASE_NAME:laryngo_onycho_cutaneous_syndrome_epidermolysis_bullosa_junctional_2b_severe_epidermolysis_bullosa_junctional_2a_intermediate_junctional_epidermolysis_bullosa_gravis_of_herlitz Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2B, severe;Epidermolysis bullosa, junctional 2A, intermediate;Junctional epidermolysis bullosa gravis of Herlitz Supplemental_disease_name DISEASE_NAME:laryngo_onycho_cutaneous_syndrome_epidermolysis_bullosa_junctional_2b_severe_junctional_epidermolysis_bullosa_gravis_of_herlitz_epidermolysis_bullosa_junctional_2a_intermediate Laryngo-onycho-cutaneous syndrome;Epidermolysis bullosa, junctional 2B, severe;Junctional epidermolysis bullosa gravis of Herlitz;Epidermolysis bullosa, junctional 2A, intermediate Supplemental_disease_name DISEASE_NAME:laryngo_onycho_cutaneous_syndrome_junctional_epidermolysis_bullosa_gravis_of_herlitz_epidermolysis_bullosa_junctional_2a_intermediate_epidermolysis_bullosa_junctional_2b_severe Laryngo-onycho-cutaneous syndrome;Junctional epidermolysis bullosa gravis of Herlitz;Epidermolysis bullosa, junctional 2A, intermediate;Epidermolysis bullosa, junctional 2B, severe Supplemental_disease_name DISEASE_NAME:las1l_related_disorder LAS1L-related disorder Supplemental_disease_name DISEASE_NAME:lat_related_disorder LAT-related disorder Supplemental_disease_name DISEASE_NAME:late_infantile_neuronal_ceroid_lipofuscinosis Late-infantile neuronal ceroid lipofuscinosis Supplemental_disease_name DISEASE_NAME:late_onset_cone_rod_dystrophy Late-onset cone-rod dystrophy Supplemental_disease_name DISEASE_NAME:late_onset_congenital_glaucoma Late onset congenital glaucoma Supplemental_disease_name DISEASE_NAME:late_onset_spinocerebellar_ataxia Late-onset spinocerebellar ataxia Supplemental_disease_name DISEASE_NAME:lateral_meningocele_syndrome_cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1 Lateral meningocele syndrome;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Supplemental_disease_name DISEASE_NAME:lateral_meningocele_syndrome_cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1_myofibromatosis_infantile_2 Lateral meningocele syndrome;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Myofibromatosis, infantile, 2 Supplemental_disease_name DISEASE_NAME:lateral_meningocele_syndrome_myofibromatosis_infantile_2_cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1 Lateral meningocele syndrome;Myofibromatosis, infantile, 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Supplemental_disease_name DISEASE_NAME:lateral_meningocele_syndrome_myofibromatosis_infantile_2_cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1_sneddon_syndrome Lateral meningocele syndrome;Myofibromatosis, infantile, 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Sneddon syndrome Supplemental_disease_name DISEASE_NAME:laterality_defect_and_complex_congenital_heart_disease Laterality defect and complex congenital heart disease Supplemental_disease_name DISEASE_NAME:laterality_defects_autosomal_dominant Laterality defects, autosomal dominant Supplemental_disease_name DISEASE_NAME:lathosterolosis Lathosterolosis Supplemental_disease_name DISEASE_NAME:lattice_corneal_dystrophy_type_i Lattice corneal dystrophy Type I Supplemental_disease_name DISEASE_NAME:lattice_retinal_degeneration_retinal_detachment Lattice retinal degeneration;Retinal detachment Supplemental_disease_name DISEASE_NAME:laurence_moon_syndrome_ataxia_hypogonadism_choroidal_dystrophy_syndrome_hereditary_spastic_paraplegia_39_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome Laurence-Moon syndrome;Ataxia-hypogonadism-choroidal dystrophy syndrome;Hereditary spastic paraplegia 39;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Supplemental_disease_name DISEASE_NAME:laurence_moon_syndrome_ataxia_hypogonadism_choroidal_dystrophy_syndrome_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome_hereditary_spastic_paraplegia_39 Laurence-Moon syndrome;Ataxia-hypogonadism-choroidal dystrophy syndrome;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome;Hereditary spastic paraplegia 39 Supplemental_disease_name DISEASE_NAME:laurence_moon_syndrome_cerebellar_ataxia_hypogonadism_syndrome_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome_ataxia_hypogonadism_choroidal_dystrophy_syndrome Laurence-Moon syndrome;Cerebellar ataxia-hypogonadism syndrome;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome;Ataxia-hypogonadism-choroidal dystrophy syndrome Supplemental_disease_name DISEASE_NAME:laurence_moon_syndrome_hereditary_spastic_paraplegia_39_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome Laurence-Moon syndrome;Hereditary spastic paraplegia 39;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Supplemental_disease_name DISEASE_NAME:laurence_moon_syndrome_hereditary_spastic_paraplegia_39_trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome_ataxia_hypogonadism_choroidal_dystrophy_syndrome Laurence-Moon syndrome;Hereditary spastic paraplegia 39;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome;Ataxia-hypogonadism-choroidal dystrophy syndrome Supplemental_disease_name DISEASE_NAME:laurin_sandrow_syndrome_acheiropodia_triphalangeal_thumb_polysyndactyly_syndrome_syndactyly_type_4 Laurin-Sandrow syndrome;Acheiropodia;Triphalangeal thumb-polysyndactyly syndrome;Syndactyly type 4 Supplemental_disease_name DISEASE_NAME:lazy_leukocyte_syndrome Lazy leukocyte syndrome Supplemental_disease_name DISEASE_NAME:lbr_related_disorder LBR-related disorder Supplemental_disease_name DISEASE_NAME:lca5_related_disorder LCA5-related disorder Supplemental_disease_name DISEASE_NAME:lca5_related_retinopathy LCA5-related retinopathy Supplemental_disease_name DISEASE_NAME:lcat_deficiency LCAT deficiency Supplemental_disease_name DISEASE_NAME:lcat_related_disorder LCAT-related disorder Supplemental_disease_name DISEASE_NAME:lchad_deficiency_with_maternal_acute_fatty_liver_of_pregnancy LCHAD deficiency with maternal acute fatty liver of pregnancy Supplemental_disease_name DISEASE_NAME:lck_related_disorder LCK-related disorder Supplemental_disease_name DISEASE_NAME:lct_related_disorder LCT-related disorder Supplemental_disease_name DISEASE_NAME:ldb3_related_disorder LDB3-related disorder Supplemental_disease_name DISEASE_NAME:ldha_related_disorder LDHA-related disorder Supplemental_disease_name DISEASE_NAME:ldhb_related_disorder LDHB-related disorder Supplemental_disease_name DISEASE_NAME:ldhd_related_disorder LDHD-related disorder Supplemental_disease_name DISEASE_NAME:ldlr_related_disorder LDLR-related disorder Supplemental_disease_name DISEASE_NAME:ldlr_related_familial_hypercholesterolemia LDLR-related familial hypercholesterolemia Supplemental_disease_name DISEASE_NAME:ldlrap1_related_disorder LDLRAP1-related disorder Supplemental_disease_name DISEASE_NAME:leanness_inherited Leanness, inherited Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_bardet_biedl_syndrome_14_joubert_syndrome_5_meckel_syndrome_type_4_senior_loken_syndrome_6 Leber congenital amaurosis 10;Bardet-Biedl syndrome 14;Joubert syndrome 5;Meckel syndrome, type 4;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_joubert_syndrome_5_bardet_biedl_syndrome_14_meckel_syndrome_type_4_senior_loken_syndrome_6 Leber congenital amaurosis 10;Joubert syndrome 5;Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_meckel_syndrome_type_4_bardet_biedl_syndrome_14_senior_loken_syndrome_6_joubert_syndrome_5 Leber congenital amaurosis 10;Meckel syndrome, type 4;Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5_bardet_biedl_syndrome_14_senior_loken_syndrome_6 Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5;Bardet-Biedl syndrome 14;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5_renal_dysplasia_and_retinal_aplasia Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5;Renal dysplasia and retinal aplasia Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5_senior_loken_syndrome_6 Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5_senior_loken_syndrome_6_bardet_biedl_syndrome_14 Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_meckel_syndrome_type_4_senior_loken_syndrome_6_bardet_biedl_syndrome_14_joubert_syndrome_5 Leber congenital amaurosis 10;Meckel syndrome, type 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_meckel_syndrome_type_4_senior_loken_syndrome_6_joubert_syndrome_5 Leber congenital amaurosis 10;Meckel syndrome, type 4;Senior-Loken syndrome 6;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_meckel_syndrome_type_4_senior_loken_syndrome_6_joubert_syndrome_5_bardet_biedl_syndrome_14 Leber congenital amaurosis 10;Meckel syndrome, type 4;Senior-Loken syndrome 6;Joubert syndrome 5;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_senior_loken_syndrome_6_bardet_biedl_syndrome_14_meckel_syndrome_type_4_joubert_syndrome_5 Leber congenital amaurosis 10;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_senior_loken_syndrome_6_joubert_syndrome_5_bardet_biedl_syndrome_14_meckel_syndrome_type_4 Leber congenital amaurosis 10;Senior-Loken syndrome 6;Joubert syndrome 5;Bardet-Biedl syndrome 14;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_10_senior_loken_syndrome_6_meckel_syndrome_type_4_bardet_biedl_syndrome_14_joubert_syndrome_5 Leber congenital amaurosis 10;Senior-Loken syndrome 6;Meckel syndrome, type 4;Bardet-Biedl syndrome 14;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_11_retinitis_pigmentosa_10 Leber congenital amaurosis 11;Retinitis pigmentosa 10 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_14_retinitis_pigmentosa Leber congenital amaurosis 14;Retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_15_retinitis_pigmentosa_14 Leber congenital amaurosis 15;Retinitis pigmentosa 14 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_16_snowflake_vitreoretinal_degeneration Leber congenital amaurosis 16;Snowflake vitreoretinal degeneration Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_17_isolated_microphthalmia_4_klippel_feil_syndrome_1_autosomal_dominant_microphthalmia_isolated_with_coloboma_6 Leber congenital amaurosis 17;Isolated microphthalmia 4;Klippel-Feil syndrome 1, autosomal dominant;Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_17_isolated_microphthalmia_4_klippel_feil_syndrome_1_autosomal_dominant_multiple_synostoses_syndrome_4_microphthalmia_isolated_with_coloboma_6 Leber congenital amaurosis 17;Isolated microphthalmia 4;Klippel-Feil syndrome 1, autosomal dominant;Multiple synostoses syndrome 4;Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_17_isolated_microphthalmia_4_microphthalmia_isolated_with_coloboma_6_klippel_feil_syndrome_1_autosomal_dominant Leber congenital amaurosis 17;Isolated microphthalmia 4;Microphthalmia, isolated, with coloboma 6;Klippel-Feil syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_17_klippel_feil_syndrome_1_autosomal_dominant_isolated_microphthalmia_4_microphthalmia_isolated_with_coloboma_6 Leber congenital amaurosis 17;Klippel-Feil syndrome 1, autosomal dominant;Isolated microphthalmia 4;Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_17_klippel_feil_syndrome_1_autosomal_dominant_isolated_microphthalmia_4_microphthalmia_isolated_with_coloboma_6_multiple_synostoses_syndrome_4 Leber congenital amaurosis 17;Klippel-Feil syndrome 1, autosomal dominant;Isolated microphthalmia 4;Microphthalmia, isolated, with coloboma 6;Multiple synostoses syndrome 4 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_17_klippel_feil_syndrome_1_autosomal_dominant_microphthalmia_isolated_with_coloboma_6_isolated_microphthalmia_4 Leber congenital amaurosis 17;Klippel-Feil syndrome 1, autosomal dominant;Microphthalmia, isolated, with coloboma 6;Isolated microphthalmia 4 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_17_microphthalmia_isolated_with_coloboma_6_isolated_microphthalmia_4_klippel_feil_syndrome_1_autosomal_dominant Leber congenital amaurosis 17;Microphthalmia, isolated, with coloboma 6;Isolated microphthalmia 4;Klippel-Feil syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_17_microphthalmia_isolated_with_coloboma_6_klippel_feil_syndrome_1_autosomal_dominant_isolated_microphthalmia_4 Leber congenital amaurosis 17;Microphthalmia, isolated, with coloboma 6;Klippel-Feil syndrome 1, autosomal dominant;Isolated microphthalmia 4 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_17_multiple_synostoses_syndrome_4_klippel_feil_syndrome_1_autosomal_dominant_isolated_microphthalmia_4_microphthalmia_isolated_with_coloboma_6 Leber congenital amaurosis 17;Multiple synostoses syndrome 4;Klippel-Feil syndrome 1, autosomal dominant;Isolated microphthalmia 4;Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_18 Leber congenital amaurosis 18 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_1_choroidal_dystrophy_central_areolar_1_cone_rod_dystrophy_6_night_blindness_congenital_stationary_type1i Leber congenital amaurosis 1;Choroidal dystrophy, central areolar, 1;Cone-rod dystrophy 6;Night blindness, congenital stationary, type1i Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_1_choroidal_dystrophy_central_areolar_1_night_blindness_congenital_stationary_type1i_cone_rod_dystrophy_6 Leber congenital amaurosis 1;Choroidal dystrophy, central areolar, 1;Night blindness, congenital stationary, type1i;Cone-rod dystrophy 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_1_cone_rod_dystrophy_6 Leber congenital amaurosis 1;Cone-rod dystrophy 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_1_cone_rod_dystrophy_6_choroidal_dystrophy_central_areolar_1_night_blindness_congenital_stationary_type1i Leber congenital amaurosis 1;Cone-rod dystrophy 6;Choroidal dystrophy, central areolar, 1;Night blindness, congenital stationary, type1i Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_1_night_blindness_congenital_stationary_type1i_choroidal_dystrophy_central_areolar_1_cone_rod_dystrophy_6 Leber congenital amaurosis 1;Night blindness, congenital stationary, type1i;Choroidal dystrophy, central areolar, 1;Cone-rod dystrophy 6 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_2_retinitis_pigmentosa_20 Leber congenital amaurosis 2;Retinitis pigmentosa 20 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_2_retinitis_pigmentosa_20_retinitis_pigmentosa_87_with_choroidal_involvement Leber congenital amaurosis 2;Retinitis pigmentosa 20;Retinitis pigmentosa 87 with choroidal involvement Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_2_retinitis_pigmentosa_87_with_choroidal_involvement Leber congenital amaurosis 2;Retinitis pigmentosa 87 with choroidal involvement Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_2_retinitis_pigmentosa_87_with_choroidal_involvement_retinitis_pigmentosa_20 Leber congenital amaurosis 2;Retinitis pigmentosa 87 with choroidal involvement;Retinitis pigmentosa 20 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_4_retinitis_pigmentosa Leber congenital amaurosis 4;Retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_6_cone_rod_dystrophy_13 Leber congenital amaurosis 6;Cone-rod dystrophy 13 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_7_cone_rod_dystrophy_2 Leber congenital amaurosis 7;Cone-rod dystrophy 2 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_8_pigmented_paravenous_retinochoroidal_atrophy_retinitis_pigmentosa_12 Leber congenital amaurosis 8;Pigmented paravenous retinochoroidal atrophy;Retinitis pigmentosa 12 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_8_retinitis_pigmentosa_12 Leber congenital amaurosis 8;Retinitis pigmentosa 12 Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_8_retinitis_pigmentosa_12_pigmented_paravenous_retinochoroidal_atrophy Leber congenital amaurosis 8;Retinitis pigmentosa 12;Pigmented paravenous retinochoroidal atrophy Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_9_spondyloepiphyseal_dysplasia_sensorineural_hearing_loss_impaired_intellectual_development_and_leber_congenital_amaurosis Leber congenital amaurosis 9;Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis Supplemental_disease_name DISEASE_NAME:leber_congenital_amaurosis_retinitis_pigmentosa_20_rpe65_related_disorder Leber congenital amaurosis;Retinitis pigmentosa 20;RPE65-related disorder Supplemental_disease_name DISEASE_NAME:leber_hereditary_optic_neuropathy_autosomal_recessive Leber hereditary optic neuropathy, autosomal recessive Supplemental_disease_name DISEASE_NAME:leber_like_hereditary_optic_neuropathy_autosomal_recessive Leber-like hereditary optic neuropathy, autosomal recessive Supplemental_disease_name DISEASE_NAME:leber_like_hereditary_optic_neuropathy_autosomal_recessive_1 Leber-like hereditary optic neuropathy, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:leber_like_hereditary_optic_neuropathy_autosomal_recessive_2 Leber-like hereditary optic neuropathy, autosomal recessive 2 Supplemental_disease_name DISEASE_NAME:leber_optic_atrophy Leber optic atrophy Supplemental_disease_name DISEASE_NAME:leber_optic_atrophy_melas_syndrome Leber optic atrophy;MELAS syndrome Supplemental_disease_name DISEASE_NAME:leber_optic_atrophy_mitochondrial_dna_associated_leigh_syndrome_and_narp_melas_syndrome Leber optic atrophy;Mitochondrial DNA-Associated Leigh Syndrome and NARP;MELAS syndrome Supplemental_disease_name DISEASE_NAME:leber_optic_atrophy_mitochondrial_dna_associated_leigh_syndrome_and_narp_narp_syndrome Leber optic atrophy;Mitochondrial DNA-Associated Leigh Syndrome and NARP;NARP syndrome Supplemental_disease_name DISEASE_NAME:leber_optic_atrophy_susceptibility_to Leber optic atrophy, susceptibility to Supplemental_disease_name DISEASE_NAME:lect2_related_disorder LECT2-related disorder Supplemental_disease_name DISEASE_NAME:lef1_related_disorder LEF1-related disorder Supplemental_disease_name DISEASE_NAME:lef1_related_ectodermal_dysplasia LEF1-related ectodermal dysplasia Supplemental_disease_name DISEASE_NAME:left_right_axis_malformations Left-right axis malformations Supplemental_disease_name DISEASE_NAME:left_ventricular_dilatation Left ventricular dilatation Supplemental_disease_name DISEASE_NAME:left_ventricular_hypertrophy Left ventricular hypertrophy Supplemental_disease_name DISEASE_NAME:left_ventricular_hypertrophy_left_ventricular_noncompaction_cardiomyopathy Left ventricular hypertrophy;Left ventricular noncompaction cardiomyopathy Supplemental_disease_name DISEASE_NAME:left_ventricular_non_compaction Left ventricular non-compaction Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_1 Left ventricular noncompaction 1 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_10 Left ventricular noncompaction 10 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_10_hypertrophic_cardiomyopathy_4 Left ventricular noncompaction 10;Hypertrophic cardiomyopathy 4 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_1_hypertrophic_cardiomyopathy_11_dilated_cardiomyopathy_1r_atrial_septal_defect_5 Left ventricular noncompaction 1;Hypertrophic cardiomyopathy 11;Dilated cardiomyopathy 1R;Atrial septal defect 5 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_1_hypertrophic_cardiomyopathy_4 Left ventricular noncompaction 1;Hypertrophic cardiomyopathy 4 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_1_primary_dilated_cardiomyopathy_hypertrophic_cardiomyopathy_4 Left ventricular noncompaction 1;Primary dilated cardiomyopathy;Hypertrophic cardiomyopathy 4 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_2 Left ventricular noncompaction 2 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_3 Left ventricular noncompaction 3 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_4 Left ventricular noncompaction 4 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_5 Left ventricular noncompaction 5 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_7 Left ventricular noncompaction 7 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_8 Left ventricular noncompaction 8 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_9 Left ventricular noncompaction 9 Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_cardiomyopathy Left ventricular noncompaction cardiomyopathy Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_cardiomyopathy_conduction_system_disorder Left ventricular noncompaction cardiomyopathy;Conduction system disorder Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_cardiomyopathy_primary_dilated_cardiomyopathy Left ventricular noncompaction cardiomyopathy;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_cardiomyopathy_ventricular_tachycardia Left ventricular noncompaction cardiomyopathy;Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_primary_dilated_cardiomyopathy Left ventricular noncompaction;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:left_ventricular_noncompaction_sick_sinus_syndrome_2_autosomal_dominant Left ventricular noncompaction;Sick sinus syndrome 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:lefty2_related_disorder LEFTY2-related disorder Supplemental_disease_name DISEASE_NAME:legionnaire_disease_susceptibility_to Legionnaire disease, susceptibility to Supplemental_disease_name DISEASE_NAME:leigh_syndrome_charcot_marie_tooth_disease_type_4k Leigh syndrome;Charcot-Marie-Tooth disease type 4K Supplemental_disease_name DISEASE_NAME:leigh_syndrome_dilated_cardiomyopathy_1gg Leigh syndrome;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:leigh_syndrome_dilated_cardiomyopathy_1gg_mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5 Leigh syndrome;Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:leigh_syndrome_dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5_mitochondrial_complex_ii_deficiency_nuclear_type_1 Leigh syndrome;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:leigh_syndrome_due_to_mitochondrial_complex_i_deficiency Leigh syndrome due to mitochondrial complex I deficiency Supplemental_disease_name DISEASE_NAME:leigh_syndrome_due_to_mitochondrial_complex_iv_deficiency_charcot_marie_tooth_disease_type_4k Leigh syndrome due to mitochondrial complex IV deficiency;Charcot-Marie-Tooth disease type 4K Supplemental_disease_name DISEASE_NAME:leigh_syndrome_mitochondrial Leigh syndrome, mitochondrial Supplemental_disease_name DISEASE_NAME:leigh_syndrome_mitochondrial_complex_i_deficiency Leigh syndrome;Mitochondrial complex I deficiency Supplemental_disease_name DISEASE_NAME:leigh_syndrome_mitochondrial_complex_i_deficiency_nuclear_type_1 Leigh syndrome;Mitochondrial complex I deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:leigh_syndrome_mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5 Leigh syndrome;Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:leigh_syndrome_mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5_dilated_cardiomyopathy_1gg Leigh syndrome;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:leigh_syndrome_pheochromocytoma_paraganglioma_syndrome_5_mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg Leigh syndrome;Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:leiomyosarcoma_breast_neoplasm Leiomyosarcoma;Breast neoplasm Supplemental_disease_name DISEASE_NAME:lemd2_related_disorder LEMD2-related disorder Supplemental_disease_name DISEASE_NAME:lemd3_related_disorder LEMD3-related disorder Supplemental_disease_name DISEASE_NAME:leng8_related_disorder LENG8-related disorder Supplemental_disease_name DISEASE_NAME:lennox_gastaut_syndrome_benign_neonatal_seizures_intellectual_disability Lennox-Gastaut syndrome;Benign neonatal seizures;Intellectual disability Supplemental_disease_name DISEASE_NAME:lennox_gastaut_syndrome_episodic_ataxia_type_2_migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6_cacna1a_related_complex_neurodevelopmental_disorder Lennox-Gastaut syndrome;Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6;CACNA1A-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:lenz_majewski_hyperostosis_syndrome Lenz-Majewski hyperostosis syndrome Supplemental_disease_name DISEASE_NAME:leo1_related_disorder LEO1-related disorder Supplemental_disease_name DISEASE_NAME:leo1_related_neurodevelopmental_disorder LEO1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:leopard_syndrome_1_juvenile_myelomonocytic_leukemia_metachondromatosis_noonan_syndrome_1 LEOPARD syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:leopard_syndrome_1_juvenile_myelomonocytic_leukemia_noonan_syndrome_1_metachondromatosis LEOPARD syndrome 1;Juvenile myelomonocytic leukemia;Noonan syndrome 1;Metachondromatosis Supplemental_disease_name DISEASE_NAME:leopard_syndrome_1_metachondromatosis_juvenile_myelomonocytic_leukemia_noonan_syndrome_1 LEOPARD syndrome 1;Metachondromatosis;Juvenile myelomonocytic leukemia;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:leopard_syndrome_1_metachondromatosis_noonan_syndrome_1 LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:leopard_syndrome_1_metachondromatosis_noonan_syndrome_1_juvenile_myelomonocytic_leukemia LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome 1;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:leopard_syndrome_1_noonan_syndrome_1 LEOPARD syndrome 1;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:leopard_syndrome_1_noonan_syndrome_1_juvenile_myelomonocytic_leukemia_metachondromatosis LEOPARD syndrome 1;Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis Supplemental_disease_name DISEASE_NAME:leopard_syndrome_1_noonan_syndrome_1_metachondromatosis_juvenile_myelomonocytic_leukemia LEOPARD syndrome 1;Noonan syndrome 1;Metachondromatosis;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:leopard_syndrome_2_dilated_cardiomyopathy_1nn_noonan_syndrome_5 LEOPARD syndrome 2;Dilated cardiomyopathy 1NN;Noonan syndrome 5 Supplemental_disease_name DISEASE_NAME:leopard_syndrome_2_noonan_syndrome_5 LEOPARD syndrome 2;Noonan syndrome 5 Supplemental_disease_name DISEASE_NAME:leopard_syndrome_2_noonan_syndrome_5_dilated_cardiomyopathy_1nn LEOPARD syndrome 2;Noonan syndrome 5;Dilated cardiomyopathy 1NN Supplemental_disease_name DISEASE_NAME:leopard_syndrome_3_lung_carcinoma_noonan_syndrome_7_cardiofaciocutaneous_syndrome_1_noonan_syndrome_1 LEOPARD syndrome 3;Lung carcinoma;Noonan syndrome 7;Cardiofaciocutaneous syndrome 1;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:leopard_syndrome_3_noonan_syndrome_7_cardiofaciocutaneous_syndrome_1 LEOPARD syndrome 3;Noonan syndrome 7;Cardiofaciocutaneous syndrome 1 Supplemental_disease_name DISEASE_NAME:leopard_syndrome_3_noonan_syndrome_7_cardiofaciocutaneous_syndrome_1_lung_carcinoma_noonan_syndrome_1 LEOPARD syndrome 3;Noonan syndrome 7;Cardiofaciocutaneous syndrome 1;Lung carcinoma;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:lep_related_disorder LEP-related disorder Supplemental_disease_name DISEASE_NAME:lepr_polymorphism LEPR POLYMORPHISM Supplemental_disease_name DISEASE_NAME:lepr_related_disorder LEPR-related disorder Supplemental_disease_name DISEASE_NAME:leprechaunism_syndrome Leprechaunism syndrome Supplemental_disease_name DISEASE_NAME:leprechaunism_syndrome_hyperinsulinism_due_to_insr_deficiency_rabson_mendenhall_syndrome Leprechaunism syndrome;Hyperinsulinism due to INSR deficiency;Rabson-Mendenhall syndrome Supplemental_disease_name DISEASE_NAME:leprechaunism_syndrome_insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans_hyperinsulinism_due_to_insr_deficiency_rabson_mendenhall_syndrome Leprechaunism syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Hyperinsulinism due to INSR deficiency;Rabson-Mendenhall syndrome Supplemental_disease_name DISEASE_NAME:leprechaunism_syndrome_rabson_mendenhall_syndrome_hyperinsulinism_due_to_insr_deficiency Leprechaunism syndrome;Rabson-Mendenhall syndrome;Hyperinsulinism due to INSR deficiency Supplemental_disease_name DISEASE_NAME:leprechaunism_syndrome_rabson_mendenhall_syndrome_insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans_hyperinsulinism_due_to_insr_deficiency Leprechaunism syndrome;Rabson-Mendenhall syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Hyperinsulinism due to INSR deficiency Supplemental_disease_name DISEASE_NAME:leprosy_early_onset_susceptibility_to Leprosy, early-onset, susceptibility to Supplemental_disease_name DISEASE_NAME:leprosy_protection_against LEPROSY, PROTECTION AGAINST Supplemental_disease_name DISEASE_NAME:leprosy_susceptibility_to_1 Leprosy, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:leprosy_susceptibility_to_3 Leprosy, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:leprosy_susceptibility_to_3_colorectal_cancer_mycobacterium_tuberculosis_susceptibility_to Leprosy, susceptibility to, 3;Colorectal cancer;Mycobacterium tuberculosis, susceptibility to Supplemental_disease_name DISEASE_NAME:leprosy_susceptibility_to_5 Leprosy, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:leptin_dysfunction Leptin dysfunction Supplemental_disease_name DISEASE_NAME:leptin_receptor_deficiency Leptin receptor deficiency Supplemental_disease_name DISEASE_NAME:leri_pleonosteosis Leri pleonosteosis Supplemental_disease_name DISEASE_NAME:leri_weill_dyschondrosteosis_langer_mesomelic_dysplasia_syndrome Leri-Weill dyschondrosteosis;Langer mesomelic dysplasia syndrome Supplemental_disease_name DISEASE_NAME:leri_weill_dyschondrosteosis_langer_mesomelic_dysplasia_syndrome_shox_related_short_stature Leri-Weill dyschondrosteosis;Langer mesomelic dysplasia syndrome;SHOX-related short stature Supplemental_disease_name DISEASE_NAME:leri_weill_dyschondrosteosis_shox_related_short_stature_langer_mesomelic_dysplasia_syndrome Leri-Weill dyschondrosteosis;SHOX-related short stature;Langer mesomelic dysplasia syndrome Supplemental_disease_name DISEASE_NAME:lesch_nyhan_syndrome_neurologic_variant Lesch-nyhan syndrome, neurologic variant Supplemental_disease_name DISEASE_NAME:lesch_nyhan_syndrome_partial_hypoxanthine_guanine_phosphoribosyltransferase_deficiency Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Supplemental_disease_name DISEASE_NAME:lesinurad_response Lesinurad response Supplemental_disease_name DISEASE_NAME:lessel_kreienkamp_syndrome Lessel-Kreienkamp syndrome Supplemental_disease_name DISEASE_NAME:lessel_kubisch_syndrome Lessel-kubisch syndrome Supplemental_disease_name DISEASE_NAME:lessel_kubisch_syndrome_accelerated_tumor_formation_susceptibility_to Lessel-kubisch syndrome;Accelerated tumor formation, susceptibility to Supplemental_disease_name DISEASE_NAME:lethal_acantholytic_epidermolysis_bullosa Lethal acantholytic epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:lethal_acantholytic_epidermolysis_bullosa_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_arrhythmogenic_right_ventricular_dysplasia_8_keratosis_palmoplantaris_striata_2_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Lethal acantholytic epidermolysis bullosa;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8;Keratosis palmoplantaris striata 2;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:lethal_acantholytic_epidermolysis_bullosa_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_keratosis_palmoplantaris_striata_2_arrhythmogenic_right_ventricular_dysplasia_8_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Lethal acantholytic epidermolysis bullosa;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Keratosis palmoplantaris striata 2;Arrhythmogenic right ventricular dysplasia 8;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:lethal_acantholytic_epidermolysis_bullosa_arrhythmogenic_right_ventricular_dysplasia_8_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma Lethal acantholytic epidermolysis bullosa;Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Supplemental_disease_name DISEASE_NAME:lethal_acantholytic_epidermolysis_bullosa_keratosis_palmoplantaris_striata_2_arrhythmogenic_right_ventricular_dysplasia_8_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis Lethal acantholytic epidermolysis bullosa;Keratosis palmoplantaris striata 2;Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Supplemental_disease_name DISEASE_NAME:lethal_acantholytic_epidermolysis_bullosa_keratosis_palmoplantaris_striata_2_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma_arrhythmogenic_right_ventricular_dysplasia_8 Lethal acantholytic epidermolysis bullosa;Keratosis palmoplantaris striata 2;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8 Supplemental_disease_name DISEASE_NAME:lethal_acantholytic_epidermolysis_bullosa_keratosis_palmoplantaris_striata_2_cardiomyopathy_dilated_with_wooly_hair_keratoderma_and_tooth_agenesis_arrhythmogenic_right_ventricular_dysplasia_8_arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma Lethal acantholytic epidermolysis bullosa;Keratosis palmoplantaris striata 2;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Supplemental_disease_name DISEASE_NAME:lethal_arthrogryposis_anterior_horn_cell_disease_syndrome Lethal arthrogryposis-anterior horn cell disease syndrome Supplemental_disease_name DISEASE_NAME:lethal_arthrogryposis_anterior_horn_cell_disease_syndrome_lethal_congenital_contracture_syndrome_1 Lethal arthrogryposis-anterior horn cell disease syndrome;Lethal congenital contracture syndrome 1 Supplemental_disease_name DISEASE_NAME:lethal_congenital_contractural_syndrome_finnish_type Lethal congenital contractural syndrome Finnish type Supplemental_disease_name DISEASE_NAME:lethal_congenital_contracture_syndrome_1_lethal_arthrogryposis_anterior_horn_cell_disease_syndrome Lethal congenital contracture syndrome 1;Lethal arthrogryposis-anterior horn cell disease syndrome Supplemental_disease_name DISEASE_NAME:lethal_congenital_contracture_syndrome_2_visceral_neuropathy_familial_1_autosomal_recessive Lethal congenital contracture syndrome 2;Visceral neuropathy, familial, 1, autosomal recessive Supplemental_disease_name DISEASE_NAME:lethal_congenital_contracture_syndrome_4_arthrogryposis_distal_type_1b_myopathy_congenital_with_tremor Lethal congenital contracture syndrome 4;Arthrogryposis, distal, type 1B;Myopathy, congenital, with tremor Supplemental_disease_name DISEASE_NAME:lethal_congenital_contracture_syndrome_4_myopathy_congenital_with_tremor Lethal congenital contracture syndrome 4;Myopathy, congenital, with tremor Supplemental_disease_name DISEASE_NAME:lethal_congenital_contracture_syndrome_4_myopathy_congenital_with_tremor_arthrogryposis_distal_type_1b Lethal congenital contracture syndrome 4;Myopathy, congenital, with tremor;Arthrogryposis, distal, type 1B Supplemental_disease_name DISEASE_NAME:lethal_congenital_contracture_syndrome_7_neuropathy_congenital_hypomyelinating_3 Lethal congenital contracture syndrome 7;Neuropathy, congenital hypomyelinating, 3 Supplemental_disease_name DISEASE_NAME:lethal_congenital_glycogen_storage_disease_of_heart_hypertrophic_cardiomyopathy_6_wolff_parkinson_white_pattern Lethal congenital glycogen storage disease of heart;Hypertrophic cardiomyopathy 6;Wolff-Parkinson-White pattern Supplemental_disease_name DISEASE_NAME:lethal_congenital_glycogen_storage_disease_of_heart_wolff_parkinson_white_pattern_hypertrophic_cardiomyopathy_6 Lethal congenital glycogen storage disease of heart;Wolff-Parkinson-White pattern;Hypertrophic cardiomyopathy 6 Supplemental_disease_name DISEASE_NAME:lethal_fetal_cerebrorenogenitourinary_agenesis_hypoplasia_syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Supplemental_disease_name DISEASE_NAME:lethal_fetal_cerebrorenogenitourinary_agenesis_hypoplasia_syndrome_microcephaly_20_primary_autosomal_recessive Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome;Microcephaly 20, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:lethal_kniest_like_syndrome Lethal Kniest-like syndrome Supplemental_disease_name DISEASE_NAME:lethal_kniest_like_syndrome_schwartz_jampel_syndrome Lethal Kniest-like syndrome;Schwartz-Jampel syndrome Supplemental_disease_name DISEASE_NAME:lethal_kniest_like_syndrome_schwartz_jampel_syndrome_type_1 Lethal Kniest-like syndrome;Schwartz-Jampel syndrome type 1 Supplemental_disease_name DISEASE_NAME:lethal_multiple_pterygium_syndrome Lethal multiple pterygium syndrome Supplemental_disease_name DISEASE_NAME:lethal_multiple_pterygium_syndrome_autosomal_recessive_multiple_pterygium_syndrome Lethal multiple pterygium syndrome;Autosomal recessive multiple pterygium syndrome Supplemental_disease_name DISEASE_NAME:lethal_multiple_pterygium_syndrome_congenital_myasthenic_syndrome_3a_congenital_myasthenic_syndrome_3b_congenital_myasthenic_syndrome_3c Lethal multiple pterygium syndrome;Congenital myasthenic syndrome 3A;Congenital myasthenic syndrome 3B;Congenital myasthenic syndrome 3C Supplemental_disease_name DISEASE_NAME:lethal_multiple_pterygium_syndrome_myasthenic_syndrome_congenital_1b_fast_channel Lethal multiple pterygium syndrome;Myasthenic syndrome, congenital, 1B, fast-channel Supplemental_disease_name DISEASE_NAME:lethal_multiple_pterygium_syndrome_myasthenic_syndrome_congenital_1b_fast_channel_congenital_myasthenic_syndrome_1a Lethal multiple pterygium syndrome;Myasthenic syndrome, congenital, 1B, fast-channel;Congenital myasthenic syndrome 1A Supplemental_disease_name DISEASE_NAME:lethal_multiystemic_syndrome Lethal multiystemic syndrome Supplemental_disease_name DISEASE_NAME:lethal_neurodevelopmental_disorder lethal neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:lethal_occipital_encephalocele_skeletal_dysplasia_syndrome Lethal occipital encephalocele-skeletal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:lethal_osteosclerotic_bone_dysplasia Lethal osteosclerotic bone dysplasia Supplemental_disease_name DISEASE_NAME:lethal_polymalformative_syndrome_boissel_type Lethal polymalformative syndrome, Boissel type Supplemental_disease_name DISEASE_NAME:lethal_short_limb_skeletal_dysplasia_al_gazali_type Lethal short-limb skeletal dysplasia, Al Gazali type Supplemental_disease_name DISEASE_NAME:lethal_skeletal_dysplasia Lethal skeletal dysplasia Supplemental_disease_name DISEASE_NAME:lethal_tight_skin_contracture_syndrome_mandibuloacral_dysplasia_with_type_b_lipodystrophy Lethal tight skin contracture syndrome;Mandibuloacral dysplasia with type B lipodystrophy Supplemental_disease_name DISEASE_NAME:letm1_associated_clinical_spectrum_with_predominant_nervous_system_involvement LETM1-associated clinical spectrum with predominant nervous system involvement Supplemental_disease_name DISEASE_NAME:letm1_related_disorder LETM1-related disorder Supplemental_disease_name DISEASE_NAME:letrozole_response Letrozole response Supplemental_disease_name DISEASE_NAME:leucine_induced_hypoglycemia_diabetes_mellitus_permanent_neonatal_3_diabetes_mellitus_transient_neonatal_2_type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_1 Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1 Supplemental_disease_name DISEASE_NAME:leucine_induced_hypoglycemia_diabetes_mellitus_permanent_neonatal_3_hyperinsulinemic_hypoglycemia_familial_1 Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1 Supplemental_disease_name DISEASE_NAME:leucine_induced_hypoglycemia_diabetes_mellitus_permanent_neonatal_3_hyperinsulinemic_hypoglycemia_familial_1_diabetes_mellitus_transient_neonatal_2_type_2_diabetes_mellitus Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:leucine_induced_hypoglycemia_diabetes_mellitus_permanent_neonatal_3_hyperinsulinemic_hypoglycemia_familial_1_type_2_diabetes_mellitus_diabetes_mellitus_transient_neonatal_2 Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2 Supplemental_disease_name DISEASE_NAME:leucine_induced_hypoglycemia_diabetes_mellitus_transient_neonatal_2_type_2_diabetes_mellitus_diabetes_mellitus_permanent_neonatal_3_hyperinsulinemic_hypoglycemia_familial_1 Leucine-induced hypoglycemia;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1 Supplemental_disease_name DISEASE_NAME:leucine_induced_hypoglycemia_diabetes_mellitus_transient_neonatal_2_type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_1_diabetes_mellitus_permanent_neonatal_3 Leucine-induced hypoglycemia;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3 Supplemental_disease_name DISEASE_NAME:leucine_induced_hypoglycemia_hyperinsulinemic_hypoglycemia_familial_1 Leucine-induced hypoglycemia;Hyperinsulinemic hypoglycemia, familial, 1 Supplemental_disease_name DISEASE_NAME:leucine_induced_hypoglycemia_hyperinsulinemic_hypoglycemia_familial_1_diabetes_mellitus_permanent_neonatal_3_diabetes_mellitus_transient_neonatal_2_type_2_diabetes_mellitus Leucine-induced hypoglycemia;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:leucine_induced_hypoglycemia_hyperinsulinemic_hypoglycemia_familial_1_type_2_diabetes_mellitus Leucine-induced hypoglycemia;Hyperinsulinemic hypoglycemia, familial, 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:leukemia_acute_lymphoblastic_susceptibility_to Leukemia, acute lymphoblastic, susceptibility to Supplemental_disease_name DISEASE_NAME:leukemia_acute_lymphoblastic_susceptibility_to_3 Leukemia, acute lymphoblastic, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:leukemia_acute_lymphocytic_susceptibility_to_1 Leukemia, acute lymphocytic, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:leukemia_acute_lymphocytic_susceptibility_to_2 Leukemia, acute lymphocytic, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:leukemia_acute_myeloid_m0_subtype LEUKEMIA, ACUTE MYELOID, M0 SUBTYPE Supplemental_disease_name DISEASE_NAME:leukemia_acute_myeloid_reduced_survival_in_somatic Leukemia, acute myeloid, reduced survival in, somatic Supplemental_disease_name DISEASE_NAME:leukemia_acute_myeloid_susceptibility_to Leukemia, acute myeloid, susceptibility to Supplemental_disease_name DISEASE_NAME:leukemia_acute_myeloid_with_eosinophilia Leukemia, acute myeloid with eosinophilia Supplemental_disease_name DISEASE_NAME:leukemia_chronic_lymphocytic_somatic LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC Supplemental_disease_name DISEASE_NAME:leukemia_chronic_lymphocytic_susceptibility_to_3_charcot_marie_tooth_disease_type_4j Leukemia, chronic lymphocytic, susceptibility to, 3;Charcot-Marie-Tooth disease type 4J Supplemental_disease_name DISEASE_NAME:leukemia_megakaryoblastic_of_down_syndrome_somatic LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, SOMATIC Supplemental_disease_name DISEASE_NAME:leukemia_philadelphia_chromosome_positive_resistant_to_imatinib Leukemia, Philadelphia chromosome-positive, resistant to imatinib Supplemental_disease_name DISEASE_NAME:leukocyte_adhesion_deficiency_type_ii Leukocyte adhesion deficiency type II Supplemental_disease_name DISEASE_NAME:leukodystrophy_adult_onset Leukodystrophy, Adult-Onset Supplemental_disease_name DISEASE_NAME:leukodystrophy_adult_onset_autosomal_dominant_without_amyloid_angiopathy Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy Supplemental_disease_name DISEASE_NAME:leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia Leukodystrophy and acquired microcephaly with or without dystonia; Supplemental_disease_name DISEASE_NAME:leukodystrophy_autosomal_recessive_nonsyndromic_hearing_loss_89_global_developmental_delay Leukodystrophy;Autosomal recessive nonsyndromic hearing loss 89;Global developmental delay Supplemental_disease_name DISEASE_NAME:leukodystrophy_childhood_onset_remitting Leukodystrophy, childhood-onset, remitting Supplemental_disease_name DISEASE_NAME:leukodystrophy_global_developmental_delay_sensorineural_hearing_loss_disorder Leukodystrophy;Global developmental delay;Sensorineural hearing loss disorder Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypogonadotropic_hypogonadism_7_with_or_without_anosmia Leukodystrophy;Hypogonadotropic hypogonadism 7 with or without anosmia Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_14 Leukodystrophy, hypomyelinating, 14 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_15 Leukodystrophy, hypomyelinating, 15 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_16 Leukodystrophy, hypomyelinating, 16 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_17 Leukodystrophy, hypomyelinating, 17 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_18 Leukodystrophy, hypomyelinating, 18 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_19_transient_infantile Leukodystrophy, hypomyelinating, 19, transient infantile Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_20 Leukodystrophy, hypomyelinating, 20 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_21 Leukodystrophy, hypomyelinating, 21 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_22 Leukodystrophy, hypomyelinating, 22 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_23_with_ataxia_deafness_liver_dysfunction_and_dilated_cardiomyopathy Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_24 Leukodystrophy, hypomyelinating, 24 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_25 Leukodystrophy, hypomyelinating, 25 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_26_with_chondrodysplasia Leukodystrophy, hypomyelinating, 26, with chondrodysplasia Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_27 Leukodystrophy, hypomyelinating, 27 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_27_acrofacial_dysostosis_cincinnati_type Leukodystrophy, hypomyelinating, 27;Acrofacial dysostosis Cincinnati type Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_28 Leukodystrophy, hypomyelinating, 28 Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_charcot_marie_tooth_disease_demyelinating_iia_1i_hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, IIA 1I;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_hypogonadotropic_hypogonadism_7_with_or_without_anosmia_hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Hypogonadotropic hypogonadism 7 with or without anosmia;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_charcot_marie_tooth_disease_demyelinating_iia_1i Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism;Charcot-Marie-Tooth disease, demyelinating, IIA 1I Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_neonatal_pseudo_hydrocephalic_progeroid_syndrome Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism;Neonatal pseudo-hydrocephalic progeroid syndrome Supplemental_disease_name DISEASE_NAME:leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_neonatal_pseudo_hydrocephalic_progeroid_syndrome Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Neonatal pseudo-hydrocephalic progeroid syndrome Supplemental_disease_name DISEASE_NAME:leukodystrophy_seizure_hearing_impairment Leukodystrophy;Seizure;Hearing impairment Supplemental_disease_name DISEASE_NAME:leukodystrophy_visual_impairment_hearing_impairment_stage_5_chronic_kidney_disease Leukodystrophy;Visual impairment;Hearing impairment;Stage 5 chronic kidney disease Supplemental_disease_name DISEASE_NAME:leukoencephalopathy Leukoencephalopathy Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_acute_reversible_with_increased_urinary_alpha_ketoglutarate Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_developmental_delay_and_episodic_neurologic_regression_syndrome Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_developmental_delay_and_episodic_neurologic_regression_syndrome_dystonia_33 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome;Dystonia 33 Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_diffuse_hereditary_with_spheroids_1 Leukoencephalopathy, diffuse hereditary, with spheroids 1 Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_diffuse_hereditary_with_spheroids_1_brain_abnormalities_neurodegeneration_and_dysosteosclerosis Leukoencephalopathy, diffuse hereditary, with spheroids 1;Brain abnormalities, neurodegeneration, and dysosteosclerosis Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_hereditary_diffuse_with_spheroids_2 Leukoencephalopathy, hereditary diffuse, with spheroids 2 Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_motor_delay_spasticity_and_dysarthria_syndrome Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_porphyria_related Leukoencephalopathy, porphyria-related Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_progressive_infantile_onset_with_deafness LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_progressive_infantile_onset_with_or_without_deafness Leukoencephalopathy, progressive, infantile-onset, with or without deafness Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_progressive_with_ovarian_failure Leukoencephalopathy, progressive, with ovarian failure Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_progressive_with_ovarian_failure_combined_oxidative_phosphorylation_defect_type_8 Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation defect type 8 Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement_high_lactate_syndrome Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_with_calcifications_and_cysts Leukoencephalopathy with calcifications and cysts Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema Leukoencephalopathy with mild cerebellar ataxia and white matter edema Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema_epilepsy_idiopathic_generalized_susceptibility_to_11_familial_hyperaldosteronism_type_ii Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Epilepsy, idiopathic generalized, susceptibility to, 11;Familial hyperaldosteronism type II Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema_familial_hyperaldosteronism_type_ii_epilepsy_idiopathic_generalized_susceptibility_to_11 Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II;Epilepsy, idiopathic generalized, susceptibility to, 11 Supplemental_disease_name DISEASE_NAME:leukoencephalopathy_without_lacunae_adult_onset Leukoencephalopathy without lacunae, adult-onset Supplemental_disease_name DISEASE_NAME:levothyroxine_response Levothyroxine response Supplemental_disease_name DISEASE_NAME:levy_hollister_syndrome_primary_pulmonary_hypoplasia Levy-Hollister syndrome;Primary pulmonary hypoplasia Supplemental_disease_name DISEASE_NAME:lewy_body_dementia_autosomal_dominant_parkinson_disease_1 Lewy body dementia;Autosomal dominant Parkinson disease 1 Supplemental_disease_name DISEASE_NAME:lewy_body_dementia_autosomal_dominant_parkinson_disease_1_autosomal_dominant_parkinson_disease_4 Lewy body dementia;Autosomal dominant Parkinson disease 1;Autosomal dominant Parkinson disease 4 Supplemental_disease_name DISEASE_NAME:lewy_body_dementia_autosomal_dominant_parkinson_disease_4_autosomal_dominant_parkinson_disease_1 Lewy body dementia;Autosomal dominant Parkinson disease 4;Autosomal dominant Parkinson disease 1 Supplemental_disease_name DISEASE_NAME:leydig_cell_adenoma_somatic_with_male_limited_precocious_puberty Leydig cell adenoma, somatic, with male-limited precocious puberty Supplemental_disease_name DISEASE_NAME:leydig_cell_agenesis Leydig cell agenesis Supplemental_disease_name DISEASE_NAME:leydig_cell_agenesis_gonadotropin_independent_familial_sexual_precocity Leydig cell agenesis;Gonadotropin-independent familial sexual precocity Supplemental_disease_name DISEASE_NAME:leydig_hypoplasia_type_i Leydig hypoplasia, type I Supplemental_disease_name DISEASE_NAME:lfng_related_disorder LFNG-related disorder Supplemental_disease_name DISEASE_NAME:lgals2_related_disorder LGALS2-related disorder Supplemental_disease_name DISEASE_NAME:lgi1_related_disorder LGI1-related disorder Supplemental_disease_name DISEASE_NAME:lgi3_related_disorder LGI3-related disorder Supplemental_disease_name DISEASE_NAME:lgi4_related_disorder LGI4-related disorder Supplemental_disease_name DISEASE_NAME:lgr4_related_disorder LGR4-related disorder Supplemental_disease_name DISEASE_NAME:lhb_related_disorder LHB-related disorder Supplemental_disease_name DISEASE_NAME:lhcgr_related_disorder LHCGR-related disorder Supplemental_disease_name DISEASE_NAME:lhfpl5_related_disorder LHFPL5-related disorder Supplemental_disease_name DISEASE_NAME:lhfpl6_related_disorder LHFPL6-related disorder Supplemental_disease_name DISEASE_NAME:lhx1_related_disorder LHX1-related disorder Supplemental_disease_name DISEASE_NAME:lhx2_associated_neurodevelopmental_disorder LHX2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:lhx2_related_disorder LHX2-related disorder Supplemental_disease_name DISEASE_NAME:lhx3_related_disorder LHX3-related disorder Supplemental_disease_name DISEASE_NAME:lhx4_related_disorder LHX4-related disorder Supplemental_disease_name DISEASE_NAME:lhx8_related_disorder LHX8-related disorder Supplemental_disease_name DISEASE_NAME:li_campeau_syndrome Li-Campeau syndrome Supplemental_disease_name DISEASE_NAME:li_fraumeni_like_syndrome Li-fraumeni-like syndrome Supplemental_disease_name DISEASE_NAME:li_fraumeni_syndrome_1_familial_cancer_of_breast Li-Fraumeni syndrome 1;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:li_fraumeni_syndrome_familial_pancreatic_carcinoma Li-Fraumeni syndrome;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:li_fraumeni_syndrome_familial_pancreatic_carcinoma_hereditary_breast_ovarian_cancer_syndrome Li-Fraumeni syndrome;Familial pancreatic carcinoma;Hereditary breast ovarian cancer syndrome Supplemental_disease_name DISEASE_NAME:li_fraumeni_syndrome_hereditary_breast_ovarian_cancer_syndrome Li-Fraumeni syndrome;Hereditary breast ovarian cancer syndrome Supplemental_disease_name DISEASE_NAME:li_fraumeni_syndrome_hereditary_cancer_predisposing_syndrome Li-Fraumeni syndrome;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:li_ghorbani_weisz_hubshman_syndrome Li-Ghorbani-Weisz-Hubshman syndrome Supplemental_disease_name DISEASE_NAME:li_takada_miyake_syndrome Li-Takada-Miyake syndrome Supplemental_disease_name DISEASE_NAME:liang_wang_syndrome Liang-Wang syndrome Supplemental_disease_name DISEASE_NAME:liang_wang_syndrome_cerebellar_atrophy_developmental_delay_and_seizures_generalized_epilepsy_paroxysmal_dyskinesia_syndrome_epilepsy_idiopathic_generalized_susceptibility_to_16 Liang-Wang syndrome;Cerebellar atrophy, developmental delay, and seizures;Generalized epilepsy-paroxysmal dyskinesia syndrome;Epilepsy, idiopathic generalized, susceptibility to, 16 Supplemental_disease_name DISEASE_NAME:liang_wang_syndrome_generalized_epilepsy_paroxysmal_dyskinesia_syndrome_cerebellar_atrophy_developmental_delay_and_seizures Liang-Wang syndrome;Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures Supplemental_disease_name DISEASE_NAME:lias_related_disorder LIAS-related disorder Supplemental_disease_name DISEASE_NAME:liberfarb_syndrome Liberfarb syndrome Supplemental_disease_name DISEASE_NAME:lichen_planopilaris Lichen planopilaris Supplemental_disease_name DISEASE_NAME:liddle_syndrome_1 Liddle syndrome 1 Supplemental_disease_name DISEASE_NAME:liddle_syndrome_1_bronchiectasis_with_or_without_elevated_sweat_chloride_1_pseudohypoaldosteronism_type_ib1_autosomal_recessive Liddle syndrome 1;Bronchiectasis with or without elevated sweat chloride 1;Pseudohypoaldosteronism, type IB1, autosomal recessive Supplemental_disease_name DISEASE_NAME:liddle_syndrome_1_bronchiectasis_with_or_without_elevated_sweat_chloride_1_pseudohypoaldosteronism_type_ib2_autosomal_recessive Liddle syndrome 1;Bronchiectasis with or without elevated sweat chloride 1;Pseudohypoaldosteronism, type IB2, autosomal recessive Supplemental_disease_name DISEASE_NAME:liddle_syndrome_1_pseudohypoaldosteronism_type_ib1_autosomal_recessive_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Liddle syndrome 1;Pseudohypoaldosteronism, type IB1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:liddle_syndrome_1_pseudohypoaldosteronism_type_ib2_autosomal_recessive_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Liddle syndrome 1;Pseudohypoaldosteronism, type IB2, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:liddle_syndrome_2 Liddle syndrome 2 Supplemental_disease_name DISEASE_NAME:liddle_syndrome_2_bronchiectasis_with_or_without_elevated_sweat_chloride_3_pseudohypoaldosteronism_type_ib1_autosomal_recessive Liddle syndrome 2;Bronchiectasis with or without elevated sweat chloride 3;Pseudohypoaldosteronism, type IB1, autosomal recessive Supplemental_disease_name DISEASE_NAME:liddle_syndrome_2_bronchiectasis_with_or_without_elevated_sweat_chloride_3_pseudohypoaldosteronism_type_ib3_autosomal_recessive Liddle syndrome 2;Bronchiectasis with or without elevated sweat chloride 3;Pseudohypoaldosteronism, type IB3, autosomal recessive Supplemental_disease_name DISEASE_NAME:liddle_syndrome_2_pseudohypoaldosteronism_type_ib3_autosomal_recessive_bronchiectasis_with_or_without_elevated_sweat_chloride_3 Liddle syndrome 2;Pseudohypoaldosteronism, type IB3, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 3 Supplemental_disease_name DISEASE_NAME:liddle_syndrome_3 Liddle syndrome 3 Supplemental_disease_name DISEASE_NAME:liddle_syndrome_3_bronchiectasis_with_or_without_elevated_sweat_chloride_2_pseudohypoaldosteronism_type_ib1_autosomal_recessive Liddle syndrome 3;Bronchiectasis with or without elevated sweat chloride 2;Pseudohypoaldosteronism, type IB1, autosomal recessive Supplemental_disease_name DISEASE_NAME:liddle_syndrome_3_pseudohypoaldosteronism_type_ib1_autosomal_recessive_bronchiectasis_with_or_without_elevated_sweat_chloride_2 Liddle syndrome 3;Pseudohypoaldosteronism, type IB1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 2 Supplemental_disease_name DISEASE_NAME:lifr_related_disorder LIFR-related disorder Supplemental_disease_name DISEASE_NAME:lig1_related_disorder LIG1-related disorder Supplemental_disease_name DISEASE_NAME:lig3_related_disorder LIG3-related disorder Supplemental_disease_name DISEASE_NAME:lig4_related_disorder LIG4-related disorder Supplemental_disease_name DISEASE_NAME:likely_inborn_error_of_metabolism Likely inborn error of metabolism Supplemental_disease_name DISEASE_NAME:lim2_related_disorder LIM2-related disorder Supplemental_disease_name DISEASE_NAME:lima1_related_disorder LIMA1-related disorder Supplemental_disease_name DISEASE_NAME:limb_ataxia Limb ataxia Supplemental_disease_name DISEASE_NAME:limb_dystonia_dysarthria Limb dystonia;Dysarthria Supplemental_disease_name DISEASE_NAME:limb_girdle_muscle_weakness_limb_girdle_muscle_atrophy Limb-girdle muscle weakness;Limb-girdle muscle atrophy Supplemental_disease_name DISEASE_NAME:limb_girdle_muscle_weakness_myofibrillar_myopathy Limb-girdle muscle weakness;Myofibrillar myopathy Supplemental_disease_name DISEASE_NAME:limb_girdle_muscular_dystrophy_due_to_pomk_deficiency_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_12 Limb-girdle muscular dystrophy due to POMK deficiency;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Supplemental_disease_name DISEASE_NAME:limb_girdle_muscular_dystrophy_recessive Limb-girdle muscular dystrophy, recessive Supplemental_disease_name DISEASE_NAME:limb_mammary_syndrome Limb-mammary syndrome Supplemental_disease_name DISEASE_NAME:limb_muscle_weakness Limb muscle weakness Supplemental_disease_name DISEASE_NAME:limb_myoclonus_severe_global_developmental_delay_autistic_behavior_aggressive_behavior Limb myoclonus;Severe global developmental delay;Autistic behavior;Aggressive behavior Supplemental_disease_name DISEASE_NAME:limk1_related_disorder LIMK1-related disorder Supplemental_disease_name DISEASE_NAME:lims2_related_disorder LIMS2-related disorder Supplemental_disease_name DISEASE_NAME:lin7b_related_disorder LIN7B-related disorder Supplemental_disease_name DISEASE_NAME:linc_pint_related_disorder LINC-PINT-related disorder Supplemental_disease_name DISEASE_NAME:linear_porokeratosis Linear porokeratosis Supplemental_disease_name DISEASE_NAME:linear_skin_defects_with_multiple_congenital_anomalies_2_x_linked_immunodeficiency_with_magnesium_defect_epstein_barr_virus_infection_and_neoplasia_congenital_disorder_of_glycosylation_type_icc Linear skin defects with multiple congenital anomalies 2;X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia;Congenital disorder of glycosylation, type ICC Supplemental_disease_name DISEASE_NAME:linear_skin_defects_with_multiple_congenital_anomalies_3_mitochondrial_complex_i_deficiency_nuclear_type_30 Linear skin defects with multiple congenital anomalies 3;Mitochondrial complex I deficiency, nuclear type 30 Supplemental_disease_name DISEASE_NAME:lingo1_related_disorder LINGO1-related disorder Supplemental_disease_name DISEASE_NAME:lingual_thyroid Lingual thyroid Supplemental_disease_name DISEASE_NAME:lins1_related_disorder LINS1-related disorder Supplemental_disease_name DISEASE_NAME:lip_and_oral_cavity_carcinoma Lip and oral cavity carcinoma Supplemental_disease_name DISEASE_NAME:lipa_related_disorder LIPA-related disorder Supplemental_disease_name DISEASE_NAME:lipase_deficiency_combined Lipase deficiency, combined Supplemental_disease_name DISEASE_NAME:lipc_related_disorder LIPC-related disorder Supplemental_disease_name DISEASE_NAME:lipe_related_disorder LIPE-related disorder Supplemental_disease_name DISEASE_NAME:lipg_related_disorder LIPG-related disorder Supplemental_disease_name DISEASE_NAME:liph_related_disorder LIPH-related disorder Supplemental_disease_name DISEASE_NAME:lipi_related_disorder LIPI-related disorder Supplemental_disease_name DISEASE_NAME:lipid_storage_myopathy Lipid storage myopathy Supplemental_disease_name DISEASE_NAME:lipk_related_disorder LIPK-related disorder Supplemental_disease_name DISEASE_NAME:lipn_related_disorder LIPN-related disorder Supplemental_disease_name DISEASE_NAME:lipoatrophy_with_diabetes_hepatic_steatosis_hypertrophic_cardiomyopathy_and_leukomelanodermic_papules Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Supplemental_disease_name DISEASE_NAME:lipodystrophy_childhood_onset Lipodystrophy - childhood onset Supplemental_disease_name DISEASE_NAME:lipodystrophy_congenital_generalized_type_5 Lipodystrophy, congenital generalized, type 5 Supplemental_disease_name DISEASE_NAME:lipodystrophy_congenital_generalized_type_5_spondylometaphyseal_dysplasia_cone_rod_dystrophy_syndrome Lipodystrophy, congenital generalized, type 5;Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Supplemental_disease_name DISEASE_NAME:lipodystrophy_familial_partial_type_8 Lipodystrophy, familial partial, type 8 Supplemental_disease_name DISEASE_NAME:lipodystrophy_familial_partial_type_9 Lipodystrophy, familial partial, type 9 Supplemental_disease_name DISEASE_NAME:lipodystrophy_partial_acquired_susceptibility_to Lipodystrophy, partial, acquired, susceptibility to Supplemental_disease_name DISEASE_NAME:lipodystrophy_partial_acquired_susceptibility_to_microcephaly_27_primary_autosomal_dominant_progressive_myoclonic_epilepsy_type_9 Lipodystrophy, partial, acquired, susceptibility to;Microcephaly 27, primary, autosomal dominant;Progressive myoclonic epilepsy type 9 Supplemental_disease_name DISEASE_NAME:lipodystrophy_partial_acquired_susceptibility_to_progressive_myoclonic_epilepsy_type_9 Lipodystrophy, partial, acquired, susceptibility to;Progressive myoclonic epilepsy type 9 Supplemental_disease_name DISEASE_NAME:lipoic_acid_synthetase_deficiency Lipoic acid synthetase deficiency Supplemental_disease_name DISEASE_NAME:lipoma_somatic Lipoma, somatic Supplemental_disease_name DISEASE_NAME:lipomatosis_multiple_symmetric_with_axonal_peripheral_neuropathy LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH AXONAL PERIPHERAL NEUROPATHY Supplemental_disease_name DISEASE_NAME:lipoprotein_a_deficiency_congenital Lipoprotein(a) deficiency, congenital Supplemental_disease_name DISEASE_NAME:lipoprotein_a_polymorphism LIPOPROTEIN(a) POLYMORPHISM Supplemental_disease_name DISEASE_NAME:lipoprotein_a_quantitative_trait_locus LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS Supplemental_disease_name DISEASE_NAME:lipoprotein_glomerulopathy Lipoprotein glomerulopathy Supplemental_disease_name DISEASE_NAME:lipoprotein_glomerulopathy_familial_type_3_hyperlipoproteinemia Lipoprotein glomerulopathy;Familial type 3 hyperlipoproteinemia Supplemental_disease_name DISEASE_NAME:lipoprotein_lipase_olbia LIPOPROTEIN LIPASE (OLBIA) Supplemental_disease_name DISEASE_NAME:lipoyl_transferase_1_deficiency Lipoyl transferase 1 deficiency Supplemental_disease_name DISEASE_NAME:lipoyltransferase_1_deficiency Lipoyltransferase 1 deficiency Supplemental_disease_name DISEASE_NAME:lipt1_related_disorder LIPT1-related disorder Supplemental_disease_name DISEASE_NAME:lipt2_related_disorder LIPT2-related disorder Supplemental_disease_name DISEASE_NAME:lisch_epithelial_corneal_dystrophy_mucolipidosis_type_iv Lisch epithelial corneal dystrophy;Mucolipidosis type IV Supplemental_disease_name DISEASE_NAME:lissencephaly_4_nde1_related_microhydranencephaly Lissencephaly 4;NDE1-related microhydranencephaly Supplemental_disease_name DISEASE_NAME:lissencephaly_6_with_microcephaly Lissencephaly 6 with microcephaly Supplemental_disease_name DISEASE_NAME:lissencephaly_due_to_lis1_mutation Lissencephaly due to LIS1 mutation Supplemental_disease_name DISEASE_NAME:lissencephaly_due_to_tuba1a_mutation Lissencephaly due to TUBA1A mutation Supplemental_disease_name DISEASE_NAME:lissencephaly_due_to_tuba1a_mutation_corpus_callosum_agenesis_of_genetic_syndrome_with_a_dandy_walker_malformation_as_major_feature Lissencephaly due to TUBA1A mutation;Corpus callosum, agenesis of;Genetic syndrome with a Dandy-Walker malformation as major feature Supplemental_disease_name DISEASE_NAME:lissencephaly_microcephaly Lissencephaly;Microcephaly Supplemental_disease_name DISEASE_NAME:lissencephaly_polymicrogyria Lissencephaly;Polymicrogyria Supplemental_disease_name DISEASE_NAME:lissencephaly_type_3 Lissencephaly type 3 Supplemental_disease_name DISEASE_NAME:lissencephaly_with_brainstem_hypoplasia lissencephaly with brainstem hypoplasia Supplemental_disease_name DISEASE_NAME:lissencephaly_with_decussation_defect Lissencephaly with decussation defect Supplemental_disease_name DISEASE_NAME:litaf_related_disorder LITAF-related disorder Supplemental_disease_name DISEASE_NAME:liver_disease_severe_congenital Liver disease, severe congenital Supplemental_disease_name DISEASE_NAME:liver_fibrosis Liver fibrosis Supplemental_disease_name DISEASE_NAME:liver_ischemia_reperfusion_injury Liver ischemia/reperfusion injury Supplemental_disease_name DISEASE_NAME:lman1_related_disorder LMAN1-related disorder Supplemental_disease_name DISEASE_NAME:lman2l_related_disorder LMAN2L-related disorder Supplemental_disease_name DISEASE_NAME:lmbr1_related_disorder LMBR1-related disorder Supplemental_disease_name DISEASE_NAME:lmbrd1_related_disorder LMBRD1-related disorder Supplemental_disease_name DISEASE_NAME:lmbrd2_related_disorder LMBRD2-related disorder Supplemental_disease_name DISEASE_NAME:lmf1_related_disorder LMF1-related disorder Supplemental_disease_name DISEASE_NAME:lmna_associated_condition LMNA-associated condition Supplemental_disease_name DISEASE_NAME:lmna_related_disorder LMNA-related disorder Supplemental_disease_name DISEASE_NAME:lmnb1_related_disorder LMNB1-related disorder Supplemental_disease_name DISEASE_NAME:lmnb1_related_primary_microcephaly LMNB1-related primary microcephaly Supplemental_disease_name DISEASE_NAME:lmnb2_related_disorder LMNB2-related disorder Supplemental_disease_name DISEASE_NAME:lmo1_polymorphism LMO1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:lmo1_related_disorder LMO1-related disorder Supplemental_disease_name DISEASE_NAME:lmo7_related_disorder LMO7-related disorder Supplemental_disease_name DISEASE_NAME:lmod1_related_condition LMOD1-related condition Supplemental_disease_name DISEASE_NAME:lmod2_related_condition LMOD2-related condition Supplemental_disease_name DISEASE_NAME:lmod3_related_disorder LMOD3-related disorder Supplemental_disease_name DISEASE_NAME:lmtk3_related_disorder LMTK3-related disorder Supplemental_disease_name DISEASE_NAME:lmx1a_related_disorder LMX1A-related disorder Supplemental_disease_name DISEASE_NAME:lmx1b_related_disorder LMX1B-related disorder Supplemental_disease_name DISEASE_NAME:lnpk_related_disorder LNPK-related disorder Supplemental_disease_name DISEASE_NAME:lobar_holoprosencephaly Lobar holoprosencephaly Supplemental_disease_name DISEASE_NAME:lobular_capillary_hemangiomas Lobular capillary hemangiomas Supplemental_disease_name DISEASE_NAME:lodder_merla_syndrome_type_2_with_developmental_delay_and_cardiac_arrhythmia LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND CARDIAC ARRHYTHMIA Supplemental_disease_name DISEASE_NAME:loeys_dietz_syndrome_1_multiple_self_healing_squamous_epithelioma Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma Supplemental_disease_name DISEASE_NAME:loeys_dietz_syndrome_1_multiple_self_healing_squamous_epithelioma_familial_thoracic_aortic_aneurysm_and_aortic_dissection Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:loeys_dietz_syndrome_2_colorectal_cancer_hereditary_nonpolyposis_type_6 Loeys-Dietz syndrome 2;Colorectal cancer, hereditary nonpolyposis, type 6 Supplemental_disease_name DISEASE_NAME:loeys_dietz_syndrome_2_colorectal_cancer_hereditary_nonpolyposis_type_6_malignant_tumor_of_esophagus Loeys-Dietz syndrome 2;Colorectal cancer, hereditary nonpolyposis, type 6;Malignant tumor of esophagus Supplemental_disease_name DISEASE_NAME:loeys_dietz_syndrome_2_malignant_tumor_of_esophagus_colorectal_cancer_hereditary_nonpolyposis_type_6 Loeys-Dietz syndrome 2;Malignant tumor of esophagus;Colorectal cancer, hereditary nonpolyposis, type 6 Supplemental_disease_name DISEASE_NAME:loeys_dietz_syndrome_6_congenital_heart_defects_multiple_types_8_with_or_without_heterotaxy Loeys-Dietz syndrome 6;Congenital heart defects, multiple types, 8, with or without heterotaxy Supplemental_disease_name DISEASE_NAME:loeys_dietz_syndrome_familial_thoracic_aortic_aneurysm_and_aortic_dissection Loeys-Dietz syndrome;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:long_chain_3_hydroxyacyl_coa_dehydrogenase_deficiency_mitochondrial_trifunctional_protein_deficiency Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency Supplemental_disease_name DISEASE_NAME:long_chain_3_hydroxyacyl_coa_dehydrogenase_deficiency_mitochondrial_trifunctional_protein_deficiency_1 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency 1 Supplemental_disease_name DISEASE_NAME:long_chain_3_hydroxyl_coa_dehydrogenase_deficiency Long-chain 3-hydroxyl-CoA dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:long_chain_acyl_coa_dehydrogenase_deficiency Long chain acyl-CoA dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:long_covid_19 Long COVID-19 Supplemental_disease_name DISEASE_NAME:long_face_delayed_speech_and_language_development_proximal_placement_of_thumb_delayed_gross_motor_development Long face;Delayed speech and language development;Proximal placement of thumb;Delayed gross motor development Supplemental_disease_name DISEASE_NAME:long_olsen_distelmaier_syndrome Long-Olsen-Distelmaier syndrome Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_13_familial_hyperaldosteronism_type_iii Long QT syndrome 13;Familial hyperaldosteronism type III Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_14_catecholaminergic_polymorphic_ventricular_tachycardia_4 Long QT syndrome 14;Catecholaminergic polymorphic ventricular tachycardia 4 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_2_digenic Long QT syndrome 1/2, digenic Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2 Long QT syndrome 1;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_short_qt_syndrome_type_2_jervell_and_lange_nielsen_syndrome_1 Long QT syndrome 1;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_atrial_fibrillation_familial_3_jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2 Long QT syndrome 1;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1 Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_short_qt_syndrome_type_2 Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1_beckwith_wiedemann_syndrome_atrial_fibrillation_familial_3_short_qt_syndrome_type_2 Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Atrial fibrillation, familial, 3;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1_short_qt_syndrome_type_2_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_recessive Long QT syndrome 1, recessive Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_short_qt_syndrome_type_2 Long QT syndrome 1;Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_short_qt_syndrome_type_2_atrial_fibrillation_familial_3 Long QT syndrome 1;Short QT syndrome type 2;Atrial fibrillation, familial, 3 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_short_qt_syndrome_type_2_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_jervell_and_lange_nielsen_syndrome_1 Long QT syndrome 1;Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_short_qt_syndrome_type_2_jervell_and_lange_nielsen_syndrome_1_atrial_fibrillation_familial_3 Long QT syndrome 1;Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_1_short_qt_syndrome_type_2_jervell_and_lange_nielsen_syndrome_1_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome Long QT syndrome 1;Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_2_3_digenic Long QT syndrome 2/3, digenic Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_2_5_digenic Long QT syndrome 2/5, digenic Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_2_9_digenic Long QT syndrome 2/9, digenic Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_2_short_qt_syndrome_type_1 Long QT syndrome 2;Short QT syndrome type 1 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_3_6_digenic Long QT syndrome 3/6, digenic Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_3_acquired_susceptibility_to Long QT syndrome 3, acquired, susceptibility to Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_3_atrial_fibrillation_familial_10_brugada_syndrome_sick_sinus_syndrome_1_dilated_cardiomyopathy_1e Long QT syndrome 3;Atrial fibrillation, familial, 10;Brugada syndrome;Sick sinus syndrome 1;Dilated cardiomyopathy 1E Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_3_brugada_syndrome Long QT syndrome 3;Brugada syndrome Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_3_brugada_syndrome_1 Long QT syndrome 3;Brugada syndrome 1 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_3_brugada_syndrome_1_dilated_cardiomyopathy_1e Long QT syndrome 3;Brugada syndrome 1;Dilated cardiomyopathy 1E Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_3_dilated_cardiomyopathy_1e_progressive_familial_heart_block_type_1a_brugada_syndrome_1_atrial_fibrillation_familial_10 Long QT syndrome 3;Dilated cardiomyopathy 1E;Progressive familial heart block, type 1A;Brugada syndrome 1;Atrial fibrillation, familial, 10 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_4_autism_spectrum_disorder_cardiac_arrhythmia_ankyrin_b_related Long QT syndrome 4;Autism spectrum disorder;Cardiac arrhythmia, ankyrin-B-related Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_5_acquired_susceptibility_to Long QT syndrome 5, acquired, susceptibility to Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_5_jervell_and_lange_nielsen_syndrome_2 Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_6_acquired_susceptibility_to Long QT syndrome 6, acquired, susceptibility to Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_6_atrial_fibrillation_familial_4 Long QT syndrome 6;Atrial fibrillation, familial, 4 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_8_brugada_syndrome_3_timothy_syndrome Long QT syndrome 8;Brugada syndrome 3;Timothy syndrome Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_8_neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures_brugada_syndrome_3_timothy_syndrome Long QT syndrome 8;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Brugada syndrome 3;Timothy syndrome Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_8_timothy_syndrome_brugada_syndrome_3 Long QT syndrome 8;Timothy syndrome;Brugada syndrome 3 Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_9_acquired_susceptibility_to Long QT syndrome 9, acquired, susceptibility to Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_bradycardia_induced Long QT syndrome, bradycardia-induced Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_brugada_syndrome Long QT syndrome;Brugada syndrome Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_drug_associated Long QT syndrome, drug-associated Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_hypertrophic_cardiomyopathy Long QT syndrome;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_hypertrophic_cardiomyopathy_sudden_unexplained_death_sudden_unexpected_death_in_epilepsy Long QT syndrome;Hypertrophic cardiomyopathy;Sudden unexplained death;Sudden unexpected death in epilepsy Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_hypertrophic_cardiomyopathy_ventricular_tachycardia Long QT syndrome;Hypertrophic cardiomyopathy;Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_primary_dilated_cardiomyopathy Long QT syndrome;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:long_qt_syndrome_restrictive_cardiomyopathy Long QT syndrome;Restrictive cardiomyopathy Supplemental_disease_name DISEASE_NAME:long_telomere_syndrome Long telomere syndrome Supplemental_disease_name DISEASE_NAME:lonp1_related_disorder LONP1-related disorder Supplemental_disease_name DISEASE_NAME:lopes_maciel_rodan_syndrome Lopes-Maciel-Rodan syndrome Supplemental_disease_name DISEASE_NAME:loricrin_keratoderma Loricrin keratoderma Supplemental_disease_name DISEASE_NAME:loss_of_consciousness_macrocephaly_large_for_gestational_age Loss of consciousness;Macrocephaly;Large for gestational age Supplemental_disease_name DISEASE_NAME:lovastatin_acid_response_metabolism_pk lovastatin acid response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:lovastatin_response_metabolism_pk lovastatin response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:lovastatin_response_toxicity lovastatin response - Toxicity Supplemental_disease_name DISEASE_NAME:low_bone_mineral_density Low bone mineral density Supplemental_disease_name DISEASE_NAME:low_bone_mineral_density_tooth_agenesis Low bone mineral density;Tooth agenesis Supplemental_disease_name DISEASE_NAME:low_density_lipoprotein_cholesterol_level_quantitative_trait_locus_1 Low density lipoprotein cholesterol level quantitative trait locus 1 Supplemental_disease_name DISEASE_NAME:low_density_lipoprotein_cholesterol_level_quantitative_trait_locus_3 Low density lipoprotein cholesterol level quantitative trait locus 3 Supplemental_disease_name DISEASE_NAME:low_density_lipoprotein_cholesterol_level_quantitative_trait_locus_6 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 Supplemental_disease_name DISEASE_NAME:low_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 Supplemental_disease_name DISEASE_NAME:low_density_lipoprotein_cholesterol_level_quantitative_trait_locus_8 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 Supplemental_disease_name DISEASE_NAME:low_frequency_hearing_loss_low_frequency_sensorineural_hearing_impairment Low-frequency hearing loss;Low-frequency sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:low_penetrant_myeloid_disorder_with_long_latency Low penetrant myeloid disorder with long latency Supplemental_disease_name DISEASE_NAME:low_phospholipid_associated_cholelithiasis Low phospholipid associated cholelithiasis Supplemental_disease_name DISEASE_NAME:low_phospholipid_associated_cholelithiasis_cholestasis_intrahepatic_of_pregnancy_3 Low phospholipid associated cholelithiasis;Cholestasis, intrahepatic, of pregnancy, 3 Supplemental_disease_name DISEASE_NAME:low_phospholipid_associated_cholelithiasis_cholestasis_intrahepatic_of_pregnancy_3_progressive_familial_intrahepatic_cholestasis_type_3 Low phospholipid associated cholelithiasis;Cholestasis, intrahepatic, of pregnancy, 3;Progressive familial intrahepatic cholestasis type 3 Supplemental_disease_name DISEASE_NAME:low_phospholipid_associated_cholelithiasis_familial_intrahepatic_cholestasis Low phospholipid associated cholelithiasis;Familial intrahepatic cholestasis Supplemental_disease_name DISEASE_NAME:low_phospholipid_associated_cholelithiasis_progressive_familial_intrahepatic_cholestasis_type_3_cholestasis_intrahepatic_of_pregnancy_3 Low phospholipid associated cholelithiasis;Progressive familial intrahepatic cholestasis type 3;Cholestasis, intrahepatic, of pregnancy, 3 Supplemental_disease_name DISEASE_NAME:low_renin_low_aldosterone_hypertension Low renin, low aldosterone hypertension Supplemental_disease_name DISEASE_NAME:lowe_syndrome_dent_disease_type_2 Lowe syndrome;Dent disease type 2 Supplemental_disease_name DISEASE_NAME:lower_limb_muscle_weakness Lower limb muscle weakness Supplemental_disease_name DISEASE_NAME:lower_limb_muscle_weakness_hypokalemia_hypomagnesemia Lower limb muscle weakness;Hypokalemia;Hypomagnesemia Supplemental_disease_name DISEASE_NAME:lower_limb_spasticity Lower limb spasticity Supplemental_disease_name DISEASE_NAME:lower_limb_spasticity_microcephaly_intellectual_disability Lower limb spasticity;Microcephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:lower_motor_neuron_syndrome_with_late_adult_onset Lower motor neuron syndrome with late-adult onset Supplemental_disease_name DISEASE_NAME:lower_motor_neuron_syndrome_with_late_adult_onset_autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_2 Lower motor neuron syndrome with late-adult onset;Autosomal dominant mitochondrial myopathy with exercise intolerance;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Supplemental_disease_name DISEASE_NAME:lower_motor_neuron_syndrome_with_late_adult_onset_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_2_autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance Lower motor neuron syndrome with late-adult onset;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Autosomal dominant mitochondrial myopathy with exercise intolerance Supplemental_disease_name DISEASE_NAME:lower_urinary_tract_obstruction Lower Urinary Tract Obstruction Supplemental_disease_name DISEASE_NAME:lower_urinary_tract_obstruction_congenital Lower urinary tract obstruction, congenital Supplemental_disease_name DISEASE_NAME:lowry_wood_syndrome Lowry-Wood syndrome Supplemental_disease_name DISEASE_NAME:lowry_wood_syndrome_osteodysplastic_primordial_dwarfism_type_1 Lowry-Wood syndrome;Osteodysplastic primordial dwarfism, type 1 Supplemental_disease_name DISEASE_NAME:lowry_wood_syndrome_osteodysplastic_primordial_dwarfism_type_1_roifman_syndrome Lowry-Wood syndrome;Osteodysplastic primordial dwarfism, type 1;Roifman syndrome Supplemental_disease_name DISEASE_NAME:lowry_wood_syndrome_roifman_syndrome_osteodysplastic_primordial_dwarfism_type_1 Lowry-Wood syndrome;Roifman syndrome;Osteodysplastic primordial dwarfism, type 1 Supplemental_disease_name DISEASE_NAME:lox_polymorphism LOX POLYMORPHISM Supplemental_disease_name DISEASE_NAME:lox_related_disorder LOX-related disorder Supplemental_disease_name DISEASE_NAME:loxhd1_related_disorder LOXHD1-related disorder Supplemental_disease_name DISEASE_NAME:loxl1_related_disorder LOXL1-related disorder Supplemental_disease_name DISEASE_NAME:loxl2_related_disorder LOXL2-related disorder Supplemental_disease_name DISEASE_NAME:loxl3_related_disorder LOXL3-related disorder Supplemental_disease_name DISEASE_NAME:loxl3_related_stickler_syndrome_autosomal_recessive LOXL3-related Stickler syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:lpa_related_disorder LPA-related disorder Supplemental_disease_name DISEASE_NAME:lpar6_related_disorder LPAR6-related disorder Supplemental_disease_name DISEASE_NAME:lpin1_related_disorder LPIN1-related disorder Supplemental_disease_name DISEASE_NAME:lpin2_related_disorder LPIN2-related disorder Supplemental_disease_name DISEASE_NAME:lpl_related_disorder LPL-related disorder Supplemental_disease_name DISEASE_NAME:lpp_related_disorder LPP-related disorder Supplemental_disease_name DISEASE_NAME:lrat_related_disorder LRAT-related disorder Supplemental_disease_name DISEASE_NAME:lrba_deficiency LRBA deficiency Supplemental_disease_name DISEASE_NAME:lrba_related_disorder LRBA-related disorder Supplemental_disease_name DISEASE_NAME:lrch3_related_disorder LRCH3-related disorder Supplemental_disease_name DISEASE_NAME:lrfn1 LRFN1 Supplemental_disease_name DISEASE_NAME:lrfn5_related_disorder LRFN5-related disorder Supplemental_disease_name DISEASE_NAME:lrig1_related_disorder LRIG1-related disorder Supplemental_disease_name DISEASE_NAME:lrig2_related_disorder LRIG2-related disorder Supplemental_disease_name DISEASE_NAME:lrit3_related_disorder LRIT3-related disorder Supplemental_disease_name DISEASE_NAME:lrmda_related_disorder LRMDA-related disorder Supplemental_disease_name DISEASE_NAME:lrp10_related_disorder LRP10-related disorder Supplemental_disease_name DISEASE_NAME:lrp12_related_disorder LRP12-related disorder Supplemental_disease_name DISEASE_NAME:lrp1_related_disorder LRP1-related disorder Supplemental_disease_name DISEASE_NAME:lrp1b_associated_developmental_disorder LRP1B-associated developmental disorder Supplemental_disease_name DISEASE_NAME:lrp1b_related_disorder LRP1B-related disorder Supplemental_disease_name DISEASE_NAME:lrp2_related_disorder LRP2-related disorder Supplemental_disease_name DISEASE_NAME:lrp4_related_disorder LRP4-related disorder Supplemental_disease_name DISEASE_NAME:lrp5_related_disorder LRP5-related disorder Supplemental_disease_name DISEASE_NAME:lrp5_related_exudative_vitreoretinopathy LRP5-related exudative vitreoretinopathy Supplemental_disease_name DISEASE_NAME:lrp5_related_primary_osteoporosis LRP5-related primary osteoporosis Supplemental_disease_name DISEASE_NAME:lrp6_related_disorder LRP6-related disorder Supplemental_disease_name DISEASE_NAME:lrp8_related_disorder LRP8-related disorder Supplemental_disease_name DISEASE_NAME:lrpap1_related_disorder LRPAP1-related disorder Supplemental_disease_name DISEASE_NAME:lrpprc_related_disorder LRPPRC-related disorder Supplemental_disease_name DISEASE_NAME:lrrc10_related_disorder LRRC10-related disorder Supplemental_disease_name DISEASE_NAME:lrrc32_related_disorder LRRC32-related disorder Supplemental_disease_name DISEASE_NAME:lrrc45_associated_neurological_ciliopathy LRRC45 associated neurological ciliopathy Supplemental_disease_name DISEASE_NAME:lrrc45_related_disorder LRRC45-related disorder Supplemental_disease_name DISEASE_NAME:lrrc4c_related_disorder LRRC4C-related disorder Supplemental_disease_name DISEASE_NAME:lrrc56_related_disorder LRRC56-related disorder Supplemental_disease_name DISEASE_NAME:lrrc7_associated_disorder LRRC7-associated disorder Supplemental_disease_name DISEASE_NAME:lrrc7_associated_neurodevelopmental_disorder LRRC7-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:lrrc7_associated_obesity_and_neurodevelopmental_disorder LRRC7-associated obesity and neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:lrrc7_related_intellectual_disability_autism_aggression_and_abnormal_eating_behaviors LRRC7-related intellectual disability, autism, aggression and abnormal eating behaviors Supplemental_disease_name DISEASE_NAME:lrrc8a_related_disorder LRRC8A-related disorder Supplemental_disease_name DISEASE_NAME:lrriq3_related_disorder LRRIQ3-related disorder Supplemental_disease_name DISEASE_NAME:lrrk1_related_disorder LRRK1-related disorder Supplemental_disease_name DISEASE_NAME:lrrk2_related_disorder LRRK2-related disorder Supplemental_disease_name DISEASE_NAME:lrrtm4_related_disorder LRRTM4-related disorder Supplemental_disease_name DISEASE_NAME:lrsam1_related_disorder LRSAM1-related disorder Supplemental_disease_name DISEASE_NAME:lrtomt_related_disorder LRTOMT-related disorder Supplemental_disease_name DISEASE_NAME:lsm11_related_disorder LSM11-related disorder Supplemental_disease_name DISEASE_NAME:lsm7_related_leukodystrophy_and_cerebellar_atrophy LSM7-related leukodystrophy and cerebellar atrophy Supplemental_disease_name DISEASE_NAME:lsr_related_disorder LSR-related disorder Supplemental_disease_name DISEASE_NAME:lss_related_disorder LSS-related disorder Supplemental_disease_name DISEASE_NAME:lta_related_disorder LTA-related disorder Supplemental_disease_name DISEASE_NAME:ltbp1_related_disorder LTBP1-related disorder Supplemental_disease_name DISEASE_NAME:ltbp2_related_disorder LTBP2-related disorder Supplemental_disease_name DISEASE_NAME:ltbp3_related_disorder LTBP3-related disorder Supplemental_disease_name DISEASE_NAME:ltbp4_related_disorder LTBP4-related disorder Supplemental_disease_name DISEASE_NAME:luc7l_related_disorder LUC7L-related disorder Supplemental_disease_name DISEASE_NAME:lucey_driscoll_syndrome Lucey-Driscoll syndrome Supplemental_disease_name DISEASE_NAME:lucey_driscoll_syndrome_crigler_najjar_syndrome_type_1_crigler_najjar_syndrome_type_ii_gilbert_syndrome_bilirubin_serum_level_of_quantitative_trait_locus_1 Lucey-Driscoll syndrome;Crigler-Najjar syndrome type 1;Crigler-Najjar syndrome, type II;Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_bilirubin_serum_level_of_quantitative_trait_locus_1_gilbert_syndrome_crigler_najjar_syndrome_type_1 Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Gilbert syndrome;Crigler-Najjar syndrome type 1 Supplemental_disease_name DISEASE_NAME:lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_crigler_najjar_syndrome_type_1_gilbert_syndrome Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Crigler-Najjar syndrome type 1;Gilbert syndrome Supplemental_disease_name DISEASE_NAME:lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_gilbert_syndrome_bilirubin_serum_level_of_quantitative_trait_locus_1_crigler_najjar_syndrome_type_1 Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Crigler-Najjar syndrome type 1 Supplemental_disease_name DISEASE_NAME:lucey_driscoll_syndrome_crigler_najjar_syndrome_type_ii_gilbert_syndrome_crigler_najjar_syndrome_type_1 Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Gilbert syndrome;Crigler-Najjar syndrome type 1 Supplemental_disease_name DISEASE_NAME:lui_jee_baron_syndrome Lui-Jee-Baron syndrome Supplemental_disease_name DISEASE_NAME:lulu_phenotype_blood_group_lutheran_system LuLu phenotype;BLOOD GROUP--LUTHERAN SYSTEM Supplemental_disease_name DISEASE_NAME:lum_related_disorder LUM-related disorder Supplemental_disease_name DISEASE_NAME:lumbar_disc_disease_susceptibility_to Lumbar disc disease, susceptibility to Supplemental_disease_name DISEASE_NAME:lumbar_disk_degeneration_susceptibility_to Lumbar disk degeneration, susceptibility to Supplemental_disease_name DISEASE_NAME:lumbar_disk_herniation_susceptibility_to Lumbar disk herniation, susceptibility to Supplemental_disease_name DISEASE_NAME:lumbar_hyperlordosis_hypoplasia_of_the_maxilla_skeletal_muscle_hypertrophy_myotonia_achilles_tendon_contracture Lumbar hyperlordosis;Hypoplasia of the maxilla;Skeletal muscle hypertrophy;Myotonia;Achilles tendon contracture Supplemental_disease_name DISEASE_NAME:lung_bronchoalveolar_carcinoma lung bronchoalveolar carcinoma Supplemental_disease_name DISEASE_NAME:lung_cancer_adenocarcinoma lung cancer adenocarcinoma Supplemental_disease_name DISEASE_NAME:lung_cancer_autoimmune_lymphoproliferative_syndrome_type_1 Lung cancer;Autoimmune lymphoproliferative syndrome type 1 Supplemental_disease_name DISEASE_NAME:lung_cancer_carcinoma Lung cancer/carcinoma Supplemental_disease_name DISEASE_NAME:lung_cancer_inflammatory_skin_and_bowel_disease_neonatal_2 Lung cancer;Inflammatory skin and bowel disease, neonatal, 2 Supplemental_disease_name DISEASE_NAME:lung_cancer_ovarian_cancer_autosomal_recessive_juvenile_parkinson_disease_2 Lung cancer;Ovarian cancer;Autosomal recessive juvenile Parkinson disease 2 Supplemental_disease_name DISEASE_NAME:lung_cancer_ovarian_neoplasm_autosomal_recessive_juvenile_parkinson_disease_2 Lung cancer;Ovarian neoplasm;Autosomal recessive juvenile Parkinson disease 2 Supplemental_disease_name DISEASE_NAME:lung_cancer_ovarian_neoplasm_familial_cancer_of_breast Lung cancer;Ovarian neoplasm;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:lung_cancer_protection_against Lung cancer, protection against Supplemental_disease_name DISEASE_NAME:lung_cancer_protection_against_in_smokers Lung cancer, protection against, in smokers Supplemental_disease_name DISEASE_NAME:lung_cancer_susceptibility_2 Lung cancer susceptibility 2 Supplemental_disease_name DISEASE_NAME:lung_cancer_susceptibility_to LUNG CANCER, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:lung_carcinoid_tumor Lung carcinoid tumor Supplemental_disease_name DISEASE_NAME:lung_carcinoma_cardiofaciocutaneous_syndrome_1_noonan_syndrome_1_leopard_syndrome_3_noonan_syndrome_7 Lung carcinoma;Cardiofaciocutaneous syndrome 1;Noonan syndrome 1;LEOPARD syndrome 3;Noonan syndrome 7 Supplemental_disease_name DISEASE_NAME:lung_carcinoma_noonan_syndrome_1_leopard_syndrome_3_noonan_syndrome_7_cardiofaciocutaneous_syndrome_1 Lung carcinoma;Noonan syndrome 1;LEOPARD syndrome 3;Noonan syndrome 7;Cardiofaciocutaneous syndrome 1 Supplemental_disease_name DISEASE_NAME:lung_carcinoma_prostate_cancer_carcinoma_of_colon_familial_cancer_of_breast Lung carcinoma;Prostate cancer;Carcinoma of colon;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:lung_damage_immunodeficiency_and_chromosome_breakage_syndrome Lung damage, immunodeficiency and chromosome breakage syndrome Supplemental_disease_name DISEASE_NAME:lung_disease_immunodeficiency_and_chromosome_breakage_syndrome Lung disease, immunodeficiency, and chromosome breakage syndrome; Supplemental_disease_name DISEASE_NAME:lung_disease_non_specific Lung disease, non-specific Supplemental_disease_name DISEASE_NAME:lung_large_cell_carcinom Lung large cell carcinom Supplemental_disease_name DISEASE_NAME:lung_lymphangioleiomyomatosis_tuberous_sclerosis_syndrome Lung lymphangioleiomyomatosis;Tuberous sclerosis syndrome Supplemental_disease_name DISEASE_NAME:lung_neuroendocrine_carcinoma Lung neuroendocrine carcinoma Supplemental_disease_name DISEASE_NAME:lupus_nephritis_susceptibility_to Lupus nephritis, susceptibility to Supplemental_disease_name DISEASE_NAME:luscan_lumish_syndrome Luscan-lumish syndrome Supplemental_disease_name DISEASE_NAME:luscan_lumish_syndrome_corpus_callosum_agenesis_of_cerebellar_vermis_hypoplasia Luscan-Lumish syndrome;Corpus callosum, agenesis of;Cerebellar vermis hypoplasia Supplemental_disease_name DISEASE_NAME:luscan_lumish_syndrome_intellectual_developmental_disorder_autosomal_dominant_70_rabin_pappas_syndrome Luscan-Lumish syndrome;Intellectual developmental disorder, autosomal dominant 70;Rabin-Pappas syndrome Supplemental_disease_name DISEASE_NAME:luscan_lumish_syndrome_rabin_pappas_syndrome_intellectual_developmental_disorder_autosomal_dominant_70 Luscan-Lumish syndrome;Rabin-Pappas syndrome;Intellectual developmental disorder, autosomal dominant 70 Supplemental_disease_name DISEASE_NAME:luteinizing_hormone_choriogonadotropin_receptor_lq_variant Luteinizing hormone/choriogonadotropin receptor, lq variant Supplemental_disease_name DISEASE_NAME:luteinizing_hormone_resistance_female Luteinizing hormone resistance, female Supplemental_disease_name DISEASE_NAME:lutheran_blood_group_polymorphism_lu_a_lu_b LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b) Supplemental_disease_name DISEASE_NAME:luzp4_related_disorder LUZP4-related disorder Supplemental_disease_name DISEASE_NAME:ly9_related_disorder LY9-related disorder Supplemental_disease_name DISEASE_NAME:lymphangiomyomatosis_isolated_focal_cortical_dysplasia_type_ii_tuberous_sclerosis_1 Lymphangiomyomatosis;Isolated focal cortical dysplasia type II;Tuberous sclerosis 1 Supplemental_disease_name DISEASE_NAME:lymphangiomyomatosis_isolated_focal_cortical_dysplasia_type_ii_tuberous_sclerosis_2 Lymphangiomyomatosis;Isolated focal cortical dysplasia type II;Tuberous sclerosis 2 Supplemental_disease_name DISEASE_NAME:lymphangiomyomatosis_tuberous_sclerosis_1 Lymphangiomyomatosis;Tuberous sclerosis 1 Supplemental_disease_name DISEASE_NAME:lymphangiomyomatosis_tuberous_sclerosis_1_isolated_focal_cortical_dysplasia_type_ii Lymphangiomyomatosis;Tuberous sclerosis 1;Isolated focal cortical dysplasia type II Supplemental_disease_name DISEASE_NAME:lymphangiomyomatosis_tuberous_sclerosis_2_isolated_focal_cortical_dysplasia_type_ii Lymphangiomyomatosis;Tuberous sclerosis 2;Isolated focal cortical dysplasia type II Supplemental_disease_name DISEASE_NAME:lymphangiomyomatosis_tuberous_sclerosis_syndrome Lymphangiomyomatosis;Tuberous sclerosis syndrome Supplemental_disease_name DISEASE_NAME:lymphatic_anomaly Lymphatic anomaly Supplemental_disease_name DISEASE_NAME:lymphatic_malformation Lymphatic malformation Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_10 Lymphatic malformation 10 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_11 Lymphatic malformation 11 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_12 Lymphatic malformation 12 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_13 Lymphatic malformation 13 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_14 Lymphatic malformation 14 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_3 Lymphatic malformation 3 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_3_hereditary_spastic_paraplegia_44_hypomyelinating_leukodystrophy_2 Lymphatic malformation 3;Hereditary spastic paraplegia 44;Hypomyelinating leukodystrophy 2 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_3_hypomyelinating_leukodystrophy_2_hereditary_spastic_paraplegia_44 Lymphatic malformation 3;Hypomyelinating leukodystrophy 2;Hereditary spastic paraplegia 44 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_4 Lymphatic malformation 4 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_6 Lymphatic malformation 6 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_6_dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and_or_perinatal_edema Lymphatic malformation 6;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_6_dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and_or_perinatal_edema_blood_group_er Lymphatic malformation 6;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema;Blood group, ER Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_7_capillary_malformation_arteriovenous_malformation_2 Lymphatic malformation 7;Capillary malformation-arteriovenous malformation 2 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_8 Lymphatic malformation 8 Supplemental_disease_name DISEASE_NAME:lymphatic_malformation_9 Lymphatic malformation 9 Supplemental_disease_name DISEASE_NAME:lymphedema_distichiasis_syndrome_with_renal_disease_and_diabetes_mellitus LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS Supplemental_disease_name DISEASE_NAME:lymphedema_posterior_choanal_atresia_syndrome Lymphedema-posterior choanal atresia syndrome Supplemental_disease_name DISEASE_NAME:lymphocytic_leukemia Lymphocytic leukemia Supplemental_disease_name DISEASE_NAME:lymphoid_neoplasm_diffuse_large_b_cell_lymphoma Lymphoid neoplasm diffuse large B-cell lymphoma Supplemental_disease_name DISEASE_NAME:lymphoma_burkitt_lymphoma Lymphoma;Burkitt lymphoma Supplemental_disease_name DISEASE_NAME:lymphoma_diffuse_large_b_cell_somatic LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC Supplemental_disease_name DISEASE_NAME:lymphoma_hodgkin_y_linked_pseudoautosomal Lymphoma, Hodgkin, Y-linked pseudoautosomal Supplemental_disease_name DISEASE_NAME:lymphoma_non_hodgkin_familial Lymphoma, non-Hodgkin, familial Supplemental_disease_name DISEASE_NAME:lymphoma_non_hodgkin_familial_familial_hemophagocytic_lymphohistiocytosis_2_aplastic_anemia Lymphoma, non-Hodgkin, familial;Familial hemophagocytic lymphohistiocytosis 2;Aplastic anemia Supplemental_disease_name DISEASE_NAME:lymphoproliferative_disorder Lymphoproliferative disorder Supplemental_disease_name DISEASE_NAME:lymphoproliferative_syndrome_with_absent_sap_expression Lymphoproliferative syndrome with absent SAP expression Supplemental_disease_name DISEASE_NAME:lyn_kinase_associated_vasculopathy_and_liver_fibrosis_syndrome LYN kinase associated vasculopathy and liver fibrosis syndrome Supplemental_disease_name DISEASE_NAME:lyn_related_disorder LYN-related disorder Supplemental_disease_name DISEASE_NAME:lynch_like_syndrome Lynch-like syndrome Supplemental_disease_name DISEASE_NAME:lynch_syndrome_1_breast_ovarian_cancer_familial_susceptibility_to_1 Lynch syndrome 1;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_1_mismatch_repair_cancer_syndrome_1 Lynch syndrome 1;Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_1_mismatch_repair_cancer_syndrome_1_muir_torré_syndrome Lynch syndrome 1;Mismatch repair cancer syndrome 1;Muir-Torré syndrome Supplemental_disease_name DISEASE_NAME:lynch_syndrome_1_mismatch_repair_cancer_syndrome_2 Lynch syndrome 1;Mismatch repair cancer syndrome 2 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_1_mismatch_repair_cancer_syndrome_2_muir_torré_syndrome Lynch syndrome 1;Mismatch repair cancer syndrome 2;Muir-Torré syndrome Supplemental_disease_name DISEASE_NAME:lynch_syndrome_1_muir_torré_syndrome Lynch syndrome 1;Muir-Torré syndrome Supplemental_disease_name DISEASE_NAME:lynch_syndrome_1_muir_torré_syndrome_mismatch_repair_cancer_syndrome_1 Lynch syndrome 1;Muir-Torré syndrome;Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_1_muir_torré_syndrome_mismatch_repair_cancer_syndrome_2 Lynch syndrome 1;Muir-Torré syndrome;Mismatch repair cancer syndrome 2 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_4 Lynch syndrome 4 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_4_mismatch_repair_cancer_syndrome_1 Lynch syndrome 4;Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_4_mismatch_repair_cancer_syndrome_4 Lynch syndrome 4;Mismatch repair cancer syndrome 4 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5 Lynch syndrome 5 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5_endometrial_carcinoma Lynch syndrome 5;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5_endometrial_carcinoma_mismatch_repair_cancer_syndrome_1 Lynch syndrome 5;Endometrial carcinoma;Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5_endometrial_carcinoma_mismatch_repair_cancer_syndrome_3 Lynch syndrome 5;Endometrial carcinoma;Mismatch repair cancer syndrome 3 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5_mismatch_repair_cancer_syndrome_1 Lynch syndrome 5;Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5_mismatch_repair_cancer_syndrome_1_endometrial_carcinoma Lynch syndrome 5;Mismatch repair cancer syndrome 1;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5_mismatch_repair_cancer_syndrome_3 Lynch syndrome 5;Mismatch repair cancer syndrome 3 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5_mismatch_repair_cancer_syndrome_3_endometrial_carcinoma Lynch syndrome 5;Mismatch repair cancer syndrome 3;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5_mismatch_repair_cancer_syndrome_4 Lynch syndrome 5;Mismatch repair cancer syndrome 4 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_8 Lynch syndrome 8 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_8_congenital_diarrhea_5_with_tufting_enteropathy Lynch syndrome 8;Congenital diarrhea 5 with tufting enteropathy Supplemental_disease_name DISEASE_NAME:lynch_syndrome_mismatch_repair_cancer_syndrome_2 Lynch syndrome;Mismatch repair cancer syndrome 2 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_mismatch_repair_cancer_syndrome_3 Lynch syndrome;Mismatch repair cancer syndrome 3 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_mismatch_repair_cancer_syndrome_4 Lynch syndrome;Mismatch repair cancer syndrome 4 Supplemental_disease_name DISEASE_NAME:lyrm4_related_disorder LYRM4-related disorder Supplemental_disease_name DISEASE_NAME:lyrm7_related_disorder LYRM7-related disorder Supplemental_disease_name DISEASE_NAME:lyset_related_disorder LYSET-related disorder Supplemental_disease_name DISEASE_NAME:lyst_related_disorder LYST-related disorder Supplemental_disease_name DISEASE_NAME:lztfl1_related_disorder LZTFL1-related disorder Supplemental_disease_name DISEASE_NAME:lztr1_associated_calms_syndrome LZTR1-associated CaLMs-syndrome Supplemental_disease_name DISEASE_NAME:lztr1_related_disorder LZTR1-related disorder Supplemental_disease_name DISEASE_NAME:lztr1_related_schwannomatosis_noonan_syndrome_10 LZTR1-related schwannomatosis;Noonan syndrome 10 Supplemental_disease_name DISEASE_NAME:lztr1_related_schwannomatosis_noonan_syndrome_10_noonan_syndrome_2 LZTR1-related schwannomatosis;Noonan syndrome 10;Noonan syndrome 2 Supplemental_disease_name DISEASE_NAME:lztr1_related_schwannomatosis_noonan_syndrome_2 LZTR1-related schwannomatosis;Noonan syndrome 2 Supplemental_disease_name DISEASE_NAME:lztr1_related_schwannomatosis_noonan_syndrome_2_noonan_syndrome_10 LZTR1-related schwannomatosis;Noonan syndrome 2;Noonan syndrome 10 Supplemental_disease_name DISEASE_NAME:lzts1_related_disorder LZTS1-related disorder Supplemental_disease_name DISEASE_NAME:m1ap_related_condition M1AP-related condition Supplemental_disease_name DISEASE_NAME:mab21l1_related_disorder MAB21L1-related disorder Supplemental_disease_name DISEASE_NAME:mab21l2_related_disorder MAB21L2-related disorder Supplemental_disease_name DISEASE_NAME:macf1_related_disorder MACF1-related disorder Supplemental_disease_name DISEASE_NAME:macrocephaly Macrocephaly Supplemental_disease_name DISEASE_NAME:macrocephaly_abnormal_heart_morphology_abnormal_facial_shape_specific_learning_disability_atypical_behavior Macrocephaly;Abnormal heart morphology;Abnormal facial shape;Specific learning disability;Atypical behavior Supplemental_disease_name DISEASE_NAME:macrocephaly_acquired_with_impaired_intellectual_development Macrocephaly, acquired, with impaired intellectual development Supplemental_disease_name DISEASE_NAME:macrocephaly_and_epileptic_encephalopathy Macrocephaly and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:macrocephaly_at_birth Macrocephaly at birth Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_bannayan_riley_ruvalcaba_syndrome_pten_hamartoma_tumor_syndrome Macrocephaly;Autism;Bannayan-Riley-Ruvalcaba syndrome;PTEN hamartoma tumor syndrome Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_cowden_syndrome_1 Macrocephaly-autism syndrome;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_cowden_syndrome_1_familial_meningioma_familial_prostate_cancer_glioma_susceptibility_2 Macrocephaly-autism syndrome;Cowden syndrome 1;Familial meningioma;Familial prostate cancer;Glioma susceptibility 2 Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_familial_meningioma_cowden_syndrome_1_glioma_susceptibility_2_familial_prostate_cancer Macrocephaly-autism syndrome;Familial meningioma;Cowden syndrome 1;Glioma susceptibility 2;Familial prostate cancer Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_familial_meningioma_cowden_syndrome_1_prostate_cancer_glioma_susceptibility_2 Macrocephaly-autism syndrome;Familial meningioma;Cowden syndrome 1;Prostate cancer;Glioma susceptibility 2 Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_familial_meningioma_prostate_cancer_cowden_syndrome_1_glioma_susceptibility_2 Macrocephaly-autism syndrome;Familial meningioma;Prostate cancer;Cowden syndrome 1;Glioma susceptibility 2 Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_familial_prostate_cancer_glioma_susceptibility_2_cowden_syndrome_1_familial_meningioma Macrocephaly-autism syndrome;Familial prostate cancer;Glioma susceptibility 2;Cowden syndrome 1;Familial meningioma Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_glioma_susceptibility_2_cowden_syndrome_1_prostate_cancer_familial_meningioma Macrocephaly-autism syndrome;Glioma susceptibility 2;Cowden syndrome 1;Prostate cancer;Familial meningioma Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_glioma_susceptibility_2_familial_meningioma_cowden_syndrome_1_prostate_cancer Macrocephaly-autism syndrome;Glioma susceptibility 2;Familial meningioma;Cowden syndrome 1;Prostate cancer Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_prostate_cancer_glioma_susceptibility_2_familial_meningioma_cowden_syndrome_1 Macrocephaly-autism syndrome;Prostate cancer;Glioma susceptibility 2;Familial meningioma;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:macrocephaly_autism_syndrome_vacterl_with_hydrocephalus_cowden_syndrome_1 Macrocephaly-autism syndrome;VACTERL with hydrocephalus;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:macrocephaly_cafe_au_lait_spot_tibial_pseudarthrosis Macrocephaly;Cafe-au-lait spot;Tibial pseudarthrosis Supplemental_disease_name DISEASE_NAME:macrocephaly_capillary_hemangioma_global_developmental_delay_polymicrogyria Macrocephaly;Capillary hemangioma;Global developmental delay;Polymicrogyria Supplemental_disease_name DISEASE_NAME:macrocephaly_cerebellar_ataxia_cns_demyelination Macrocephaly;Cerebellar ataxia;CNS demyelination Supplemental_disease_name DISEASE_NAME:macrocephaly_cleft_palate Macrocephaly;Cleft palate Supplemental_disease_name DISEASE_NAME:macrocephaly_developmental_delay_hearing_impairment Macrocephaly;Developmental delay;Hearing impairment Supplemental_disease_name DISEASE_NAME:macrocephaly_developmental_delay_syndrome Macrocephaly-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:macrocephaly_dysmorphic_facies_and_psychomotor_retardation Macrocephaly, dysmorphic facies, and psychomotor retardation Supplemental_disease_name DISEASE_NAME:macrocephaly_fatigable_weakness_increased_muscle_fatiguability_congenital_ptosis_overgrowth Macrocephaly;Fatigable weakness;Increased muscle fatiguability;Congenital ptosis;Overgrowth Supplemental_disease_name DISEASE_NAME:macrocephaly_febrile_seizure_within_the_age_range_of_3_months_to_6_years_myocarditis_ventriculomegaly Macrocephaly;Febrile seizure (within the age range of 3 months to 6 years);Myocarditis;Ventriculomegaly Supplemental_disease_name DISEASE_NAME:macrocephaly_functional_motor_deficit_global_developmental_delay_generalized_dystonia Macrocephaly;Functional motor deficit;Global developmental delay;Generalized dystonia Supplemental_disease_name DISEASE_NAME:macrocephaly_global_developmental_delay_chorea_short_stature Macrocephaly;Global developmental delay;Chorea;Short stature Supplemental_disease_name DISEASE_NAME:macrocephaly_global_developmental_delay_hypotonia_tall_stature Macrocephaly;Global developmental delay;Hypotonia;Tall stature Supplemental_disease_name DISEASE_NAME:macrocephaly_global_developmental_delay_short_stature_chorea Macrocephaly;Global developmental delay;Short stature;Chorea Supplemental_disease_name DISEASE_NAME:macrocephaly_hydrocephalus_nonsyndromic_autosomal_recessive_1 Macrocephaly;Hydrocephalus, nonsyndromic, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:macrocephaly_intellectual_disability Macrocephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:macrocephaly_intellectual_disability_global_developmental_delay Macrocephaly;Intellectual disability;Global developmental delay Supplemental_disease_name DISEASE_NAME:macrocephaly_intellectual_disability_neurodevelopmental_disorder_small_thorax_syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Supplemental_disease_name DISEASE_NAME:macrocephaly_intellectual_disability_neurodevelopmental_disorder_small_thorax_syndrome_isolated_focal_cortical_dysplasia_type_ii Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome;Isolated focal cortical dysplasia type II Supplemental_disease_name DISEASE_NAME:macrocephaly_macrosomia_facial_dysmorphism_syndrome Macrocephaly, macrosomia, facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:macrocephaly_megalencephaly_syndrome_autosomal_recessive Macrocephaly/megalencephaly syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:macrocephaly_neonatal_hypotonia_large_for_gestational_age_dolichocephaly Macrocephaly;Neonatal hypotonia;Large for gestational age;Dolichocephaly Supplemental_disease_name DISEASE_NAME:macrocephaly_neurodevelopmental_delay_autistic_behavior Macrocephaly;Neurodevelopmental delay;Autistic behavior Supplemental_disease_name DISEASE_NAME:macrocephaly_neurodevelopmental_delay_lymphoid_hyperplasia_and_persistent_fetal_hemoglobin Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin Supplemental_disease_name DISEASE_NAME:macrocephaly_seizure_delayed_speech_and_language_development_joint_laxity_generalized_joint_hypermobility Macrocephaly;Seizure;Delayed speech and language development;Joint laxity;Generalized joint hypermobility Supplemental_disease_name DISEASE_NAME:macrod2_related_disorder MACROD2-related disorder Supplemental_disease_name DISEASE_NAME:macrodactyly_of_toe_stroke_disorder Macrodactyly of toe;Stroke disorder Supplemental_disease_name DISEASE_NAME:macrodactyly_somatic MACRODACTYLY, SOMATIC Supplemental_disease_name DISEASE_NAME:macroglobulinemia_waldenstrom_somatic Macroglobulinemia, Waldenstrom, somatic Supplemental_disease_name DISEASE_NAME:macroglossia_global_developmental_delay_short_5th_finger_abnormality_of_the_face Macroglossia;Global developmental delay;Short 5th finger;Abnormality of the face Supplemental_disease_name DISEASE_NAME:macroh2a1_related_neurodevelopmental_disorder MACROH2A1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:macronodular_adrenal_hyperplasia Macronodular adrenal hyperplasia Supplemental_disease_name DISEASE_NAME:macroscopic_hematuria Macroscopic hematuria Supplemental_disease_name DISEASE_NAME:macrothrombocytopenia Macrothrombocytopenia Supplemental_disease_name DISEASE_NAME:macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss_autosomal_dominant_nonsyndromic_hearing_loss_17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17 Supplemental_disease_name DISEASE_NAME:macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss_autosomal_dominant_nonsyndromic_hearing_loss_17_vitelliform_macular_dystrophy_1 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17;Vitelliform macular dystrophy 1 Supplemental_disease_name DISEASE_NAME:macrothrombocytopenia_familial_bernard_soulier_type MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE Supplemental_disease_name DISEASE_NAME:macrothrombocytopenia_hearing_impairment Macrothrombocytopenia;Hearing impairment Supplemental_disease_name DISEASE_NAME:macrothrombocytopenia_isolated_1_autosomal_dominant Macrothrombocytopenia, isolated, 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:macrothrombocytopenia_isolated_2_autosomal_dominant Macrothrombocytopenia, isolated, 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:macrothrombocytopenia_lymphedema_developmental_delay_facial_dysmorphism_camptodactyly_syndrome Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Supplemental_disease_name DISEASE_NAME:macrozoospermia Macrozoospermia Supplemental_disease_name DISEASE_NAME:macular_corneal_dystrophy_type_ii Macular corneal dystrophy, type II Supplemental_disease_name DISEASE_NAME:macular_degeneration_age_related_13_susceptibility_to Macular degeneration, age-related, 13, susceptibility to Supplemental_disease_name DISEASE_NAME:macular_degeneration_age_related_1_susceptibility_to MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:macular_degeneration_age_related_2_susceptibility_to MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:macular_degeneration_age_related_3 Macular degeneration, age-related, 3 Supplemental_disease_name DISEASE_NAME:macular_degeneration_age_related_3_charcot_marie_tooth_disease_demyelinating_iia_1h_cutis_laxa_autosomal_recessive_type_1a_cutis_laxa_autosomal_dominant_2 Macular degeneration, age-related, 3;Charcot-Marie-Tooth disease, demyelinating, IIA 1H;Cutis laxa, autosomal recessive, type 1A;Cutis laxa, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:macular_degeneration_age_related_3_cutis_laxa_autosomal_recessive_type_1a_cutis_laxa_autosomal_dominant_2 Macular degeneration, age-related, 3;Cutis laxa, autosomal recessive, type 1A;Cutis laxa, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:macular_degeneration_age_related_9_susceptibility_to MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:macular_degeneration_age_related_neovascular_type Macular degeneration, age-related, neovascular type Supplemental_disease_name DISEASE_NAME:macular_degeneration_early_onset Macular degeneration, early-onset Supplemental_disease_name DISEASE_NAME:macular_degeneration_early_onset_congenital_contractural_arachnodactyly Macular degeneration, early-onset;Congenital contractural arachnodactyly Supplemental_disease_name DISEASE_NAME:macular_degeneration_retinal_atrophy_central_scotoma_visual_impairment Macular degeneration;Retinal atrophy;Central scotoma;Visual impairment Supplemental_disease_name DISEASE_NAME:macular_degeneration_visual_loss_blindness Macular degeneration;Visual loss;Blindness Supplemental_disease_name DISEASE_NAME:macular_degeneration_x_linked_atrophic Macular degeneration, X-linked atrophic Supplemental_disease_name DISEASE_NAME:macular_degeneration_x_linked_atrophic_retinitis_pigmentosa_3_retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness_x_linked_cone_rod_dystrophy_1 Macular degeneration, X-linked atrophic;Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness;X-linked cone-rod dystrophy 1 Supplemental_disease_name DISEASE_NAME:macular_degeneration_x_linked_atrophic_retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness_retinitis_pigmentosa_3_x_linked_cone_rod_dystrophy_1 Macular degeneration, X-linked atrophic;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness;Retinitis pigmentosa 3;X-linked cone-rod dystrophy 1 Supplemental_disease_name DISEASE_NAME:macular_degeneration_x_linked_atrophic_x_linked_cone_rod_dystrophy_1_retinitis_pigmentosa_3_retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness Macular degeneration, X-linked atrophic;X-linked cone-rod dystrophy 1;Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness Supplemental_disease_name DISEASE_NAME:macular_dystrophy Macular dystrophy Supplemental_disease_name DISEASE_NAME:macular_dystrophy_retinal_4 Macular dystrophy, retinal, 4 Supplemental_disease_name DISEASE_NAME:macular_dystrophy_retinal_5 Macular dystrophy, retinal, 5 Supplemental_disease_name DISEASE_NAME:macular_dystrophy_with_central_cone_involvement Macular dystrophy with central cone involvement Supplemental_disease_name DISEASE_NAME:macular_dystrophy_with_central_cone_involvement_neuronal_ceroid_lipofuscinosis_7 Macular dystrophy with central cone involvement;Neuronal ceroid lipofuscinosis 7 Supplemental_disease_name DISEASE_NAME:macular_dystrophy_with_cone_dysfunction MACULAR DYSTROPHY WITH CONE DYSFUNCTION Supplemental_disease_name DISEASE_NAME:macular_dystrophy_with_or_without_cone_dysfunction Macular dystrophy with or without cone dysfunction Supplemental_disease_name DISEASE_NAME:macular_dystrophy_with_or_without_extraocular_features Macular dystrophy with or without extraocular features Supplemental_disease_name DISEASE_NAME:maculopathy maculopathy Supplemental_disease_name DISEASE_NAME:mad2l2_related_disorder MAD2L2-related disorder Supplemental_disease_name DISEASE_NAME:madd_related_disorder MADD-related disorder Supplemental_disease_name DISEASE_NAME:madras_motor_neuron_disease Madras motor neuron disease Supplemental_disease_name DISEASE_NAME:maf_related_disorder MAF-related disorder Supplemental_disease_name DISEASE_NAME:mafa_related_disorder MAFA-related disorder Supplemental_disease_name DISEASE_NAME:mafb_related_disorder MAFB-related disorder Supplemental_disease_name DISEASE_NAME:mag_related_disorder MAG-related disorder Supplemental_disease_name DISEASE_NAME:magea11_related_disorder MAGEA11-related disorder Supplemental_disease_name DISEASE_NAME:magec3_related_disorder MAGEC3-related disorder Supplemental_disease_name DISEASE_NAME:maged1_related_neurodevelopmental_delay MAGED1-related neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:maged2_related_disorder MAGED2-related disorder Supplemental_disease_name DISEASE_NAME:magel2_related_disorder MAGEL2-related disorder Supplemental_disease_name DISEASE_NAME:magi2_related_disorder MAGI2-related disorder Supplemental_disease_name DISEASE_NAME:magt1_related_disorder MAGT1-related disorder Supplemental_disease_name DISEASE_NAME:major_affective_disorder_7 Major affective disorder 7 Supplemental_disease_name DISEASE_NAME:major_depressive_disorder_attention_deficit_hyperactivity_disorder_susceptibility_to_7 Major depressive disorder;Attention deficit-hyperactivity disorder, susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:major_depressive_disorder_response_to_citalopram_therapy_in Major depressive disorder, response to citalopram therapy in Supplemental_disease_name DISEASE_NAME:mak_related_disorder MAK-related disorder Supplemental_disease_name DISEASE_NAME:mak_related_retinopathy MAK-related retinopathy Supplemental_disease_name DISEASE_NAME:malan_overgrowth_syndrome Malan overgrowth syndrome Supplemental_disease_name DISEASE_NAME:malan_overgrowth_syndrome_marshall_smith_syndrome Malan overgrowth syndrome;Marshall-Smith syndrome Supplemental_disease_name DISEASE_NAME:malan_syndrome Malan syndrome Supplemental_disease_name DISEASE_NAME:malaria_cerebral_resistance_to Malaria, cerebral, resistance to Supplemental_disease_name DISEASE_NAME:malaria_cerebral_susceptibility_to Malaria, cerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:malaria_mild_susceptibility_to Malaria, mild, susceptibility to Supplemental_disease_name DISEASE_NAME:malaria_resistance_to Malaria, resistance to Supplemental_disease_name DISEASE_NAME:malaria_severe_resistance_to Malaria, severe, resistance to Supplemental_disease_name DISEASE_NAME:malaria_severe_susceptibility_to Malaria, severe, susceptibility to Supplemental_disease_name DISEASE_NAME:malaria_susceptibility_to Malaria, susceptibility to Supplemental_disease_name DISEASE_NAME:malaria_susceptibility_to_anemia_nonspherocytic_hemolytic_due_to_g6pd_deficiency Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency Supplemental_disease_name DISEASE_NAME:malaria_susceptibility_to_coronary_heart_disease_susceptibility_to_7_platelet_type_bleeding_disorder_10 Malaria, susceptibility to;Coronary heart disease, susceptibility to, 7;Platelet-type bleeding disorder 10 Supplemental_disease_name DISEASE_NAME:malaria_susceptibility_to_knops_blood_group_system Malaria, susceptibility to;KNOPS BLOOD GROUP SYSTEM Supplemental_disease_name DISEASE_NAME:malaria_susceptibility_to_mycobacterium_tuberculosis_susceptibility_to_bacteremia_susceptibility_to_1 Malaria, susceptibility to;Mycobacterium tuberculosis, susceptibility to;Bacteremia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:malaria_susceptibility_to_platelet_type_bleeding_disorder_10_coronary_heart_disease_susceptibility_to_7 Malaria, susceptibility to;Platelet-type bleeding disorder 10;Coronary heart disease, susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:male_germ_cell_tumor_somatic MALE GERM CELL TUMOR, SOMATIC Supplemental_disease_name DISEASE_NAME:male_infertility_due_to_gonadal_dysgenesis_or_sperm_disorder Male infertility due to gonadal dysgenesis or sperm disorder Supplemental_disease_name DISEASE_NAME:male_infertility_due_to_obstructive_azoospermia Male infertility due to obstructive azoospermia Supplemental_disease_name DISEASE_NAME:male_infertility_due_to_sperm_motility_disorder Male infertility due to sperm motility disorder Supplemental_disease_name DISEASE_NAME:male_infertility_oligospermia Male infertility;Oligospermia Supplemental_disease_name DISEASE_NAME:male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation Male infertility with azoospermia or oligozoospermia due to single gene mutation Supplemental_disease_name DISEASE_NAME:male_infertility_with_normal_semen_parameters Male infertility with normal semen parameters Supplemental_disease_name DISEASE_NAME:male_infertility_with_spermatogenesis_disorder Male infertility with spermatogenesis disorder Supplemental_disease_name DISEASE_NAME:male_infertility_with_spermatogenesis_disorder_due_to_single_gene_mutation Male infertility with spermatogenesis disorder due to single gene mutation Supplemental_disease_name DISEASE_NAME:male_infertility_with_teratozoospermia_due_to_single_gene_mutation Male infertility with teratozoospermia due to single gene mutation Supplemental_disease_name DISEASE_NAME:male_infertility_with_teratozoospermia_due_to_single_gene_mutation_non_syndromic_male_infertility_due_to_sperm_motility_disorder Male infertility with teratozoospermia due to single gene mutation;Non-syndromic male infertility due to sperm motility disorder Supplemental_disease_name DISEASE_NAME:male_pseudohermaphrodism_with_gynecomastia Male pseudohermaphrodism with gynecomastia Supplemental_disease_name DISEASE_NAME:male_pseudohermaphroditism Male pseudohermaphroditism Supplemental_disease_name DISEASE_NAME:male_subfertility Male subfertility Supplemental_disease_name DISEASE_NAME:maleylacetoacetate_isomerase_deficiency Maleylacetoacetate isomerase deficiency Supplemental_disease_name DISEASE_NAME:malformation_of_the_heart_and_great_vessels Malformation of the heart and great vessels Supplemental_disease_name DISEASE_NAME:malignant_germ_cell_tumor Malignant germ cell tumor Supplemental_disease_name DISEASE_NAME:malignant_gliomas Malignant gliomas Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_and_exertional_rhabdomyolosis Malignant hyperthermia and exertional rhabdomyolosis Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_equivocal_with_halotane Malignant hyperthermia equivocal with halotane Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_of_anesthesia Malignant hyperthermia of anesthesia Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to Malignant hyperthermia, susceptibility to Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1 Malignant hyperthermia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital myopathy with fiber type disproportion;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia Malignant hyperthermia, susceptibility to, 1;Central core myopathy;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion Malignant hyperthermia, susceptibility to, 1;Central core myopathy;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia Malignant hyperthermia, susceptibility to, 1;Central core myopathy;King Denborough syndrome;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_king_denborough_syndrome Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_king_denborough_syndrome Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Central core myopathy;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_king_denborough_syndrome_central_core_myopathy Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;King Denborough syndrome;Central core myopathy Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Central core myopathy;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome;Congenital myopathy with fiber type disproportion;Central core myopathy Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_king_denborough_syndrome Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Central core myopathy;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy_king_denborough_syndrome Malignant hyperthermia, susceptibility to, 1;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy;King Denborough syndrome Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Central core myopathy Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy_congenital_multicore_myopathy_with_external_ophthalmoplegia Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital myopathy with fiber type disproportion;Central core myopathy;Congenital multicore myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_king_denborough_syndrome_congenital_myopathy_with_fiber_type_disproportion_congenital_multicore_myopathy_with_external_ophthalmoplegia_central_core_myopathy Malignant hyperthermia, susceptibility to, 1;King Denborough syndrome;Congenital myopathy with fiber type disproportion;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_1_myopathy_ryr1_associated_congenital_multicore_myopathy_with_external_ophthalmoplegia_congenital_myopathy_with_fiber_type_disproportion_central_core_myopathy Malignant hyperthermia, susceptibility to, 1;Myopathy, RYR1-associated;Congenital multicore myopathy with external ophthalmoplegia;Congenital myopathy with fiber type disproportion;Central core myopathy Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5 Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5_congenital_myopathy_18_hypokalemic_periodic_paralysis_type_1_thyrotoxic_periodic_paralysis_susceptibility_to_1 Malignant hyperthermia, susceptibility to, 5;Congenital myopathy 18;Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5_congenital_myopathy_18_thyrotoxic_periodic_paralysis_susceptibility_to_1_hypokalemic_periodic_paralysis_type_1 Malignant hyperthermia, susceptibility to, 5;Congenital myopathy 18;Thyrotoxic periodic paralysis, susceptibility to, 1;Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5_hypokalemic_periodic_paralysis_type_1 Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5_hypokalemic_periodic_paralysis_type_1_congenital_myopathy_18_thyrotoxic_periodic_paralysis_susceptibility_to_1 Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1;Congenital myopathy 18;Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5_hypokalemic_periodic_paralysis_type_1_thyrotoxic_periodic_paralysis_susceptibility_to_1 Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5_hypokalemic_periodic_paralysis_type_1_thyrotoxic_periodic_paralysis_susceptibility_to_1_congenital_myopathy_18 Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1;Congenital myopathy 18 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5_thyrotoxic_periodic_paralysis_susceptibility_to_1_congenital_myopathy_18_hypokalemic_periodic_paralysis_type_1 Malignant hyperthermia, susceptibility to, 5;Thyrotoxic periodic paralysis, susceptibility to, 1;Congenital myopathy 18;Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5_thyrotoxic_periodic_paralysis_susceptibility_to_1_hypokalemic_periodic_paralysis_type_1 Malignant hyperthermia, susceptibility to, 5;Thyrotoxic periodic paralysis, susceptibility to, 1;Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:malignant_hyperthermia_susceptibility_to_5_thyrotoxic_periodic_paralysis_susceptibility_to_1_hypokalemic_periodic_paralysis_type_1_congenital_myopathy_18 Malignant hyperthermia, susceptibility to, 5;Thyrotoxic periodic paralysis, susceptibility to, 1;Hypokalemic periodic paralysis, type 1;Congenital myopathy 18 Supplemental_disease_name DISEASE_NAME:malignant_hypothermia Malignant hypothermia Supplemental_disease_name DISEASE_NAME:malignant_lymphoma_large_b_cell_diffuse Malignant lymphoma, large B-cell, diffuse Supplemental_disease_name DISEASE_NAME:malignant_melanoma_of_skin Malignant melanoma of skin Supplemental_disease_name DISEASE_NAME:malignant_migrating_partial_seizures_of_infancy Malignant migrating partial seizures of infancy Supplemental_disease_name DISEASE_NAME:malignant_neoplasm_of_brain Malignant neoplasm of brain Supplemental_disease_name DISEASE_NAME:malignant_neoplastic_disease Malignant neoplastic disease Supplemental_disease_name DISEASE_NAME:malignant_peritoneal_mesothelioma Malignant peritoneal mesothelioma Supplemental_disease_name DISEASE_NAME:malignant_rhabdoid_tumor_somatic Malignant rhabdoid tumor, somatic Supplemental_disease_name DISEASE_NAME:malignant_spindle_cell_neoplasm Malignant spindle cell neoplasm Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_breast Malignant tumor of breast Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_breast_ataxia_telangiectasia_syndrome Malignant tumor of breast;Ataxia-telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_breast_ovarian_cancer Malignant tumor of breast;Ovarian cancer Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_breast_pancreatic_cancer_susceptibility_to_3_fanconi_anemia_complementation_group_n Malignant tumor of breast;Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_esophagus Malignant tumor of esophagus Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_esophagus_autosomal_recessive_spinocerebellar_ataxia_12_developmental_and_epileptic_encephalopathy_28 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_esophagus_colorectal_cancer_hereditary_nonpolyposis_type_6_loeys_dietz_syndrome_2 Malignant tumor of esophagus;Colorectal cancer, hereditary nonpolyposis, type 6;Loeys-Dietz syndrome 2 Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_esophagus_developmental_and_epileptic_encephalopathy_28_autosomal_recessive_spinocerebellar_ataxia_12 Malignant tumor of esophagus;Developmental and epileptic encephalopathy, 28;Autosomal recessive spinocerebellar ataxia 12 Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_esophagus_gaze_palsy_familial_horizontal_with_progressive_scoliosis_2_colorectal_cancer_mirror_movements_1 Malignant tumor of esophagus;Gaze palsy, familial horizontal, with progressive scoliosis, 2;Colorectal cancer;Mirror movements 1 Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_esophagus_loeys_dietz_syndrome_2_colorectal_cancer_hereditary_nonpolyposis_type_6 Malignant tumor of esophagus;Loeys-Dietz syndrome 2;Colorectal cancer, hereditary nonpolyposis, type 6 Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_esophagus_mirror_movements_1_gaze_palsy_familial_horizontal_with_progressive_scoliosis_2_colorectal_cancer Malignant tumor of esophagus;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2;Colorectal cancer Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_pancreas Malignant tumor of pancreas Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_pancreas_pancreatic_intraductal_papillary_mucinous_neoplasm_hereditary_cancer_predisposing_syndrome Malignant tumor of pancreas;Pancreatic intraductal papillary-mucinous neoplasm;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_testis Malignant tumor of testis Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_testis_carcinoma_of_pancreas_peutz_jeghers_syndrome Malignant tumor of testis;Carcinoma of pancreas;Peutz-Jeghers syndrome Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_thyroid_gland Malignant tumor of thyroid gland Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_unknown_origin Malignant tumor of unknown origin Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_urinary_bladder Malignant tumor of urinary bladder Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_urinary_bladder_bone_osteosarcoma_small_cell_lung_carcinoma_retinoblastoma Malignant tumor of urinary bladder;Bone osteosarcoma;Small cell lung carcinoma;Retinoblastoma Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_urinary_bladder_retinoblastoma_bone_osteosarcoma_small_cell_lung_carcinoma Malignant tumor of urinary bladder;Retinoblastoma;Bone osteosarcoma;Small cell lung carcinoma Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_urinary_bladder_small_cell_lung_carcinoma_retinoblastoma_bone_osteosarcoma Malignant tumor of urinary bladder;Small cell lung carcinoma;Retinoblastoma;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:malt1_related_disorder MALT1-related disorder Supplemental_disease_name DISEASE_NAME:mamld1_related_disorder MAMLD1-related disorder Supplemental_disease_name DISEASE_NAME:mammary_tumor_carcinoma Mammary tumor/carcinoma Supplemental_disease_name DISEASE_NAME:man1b1_congenital_disorder_of_glycosylation MAN1B1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:man1b1_related_disorder MAN1B1-related disorder Supplemental_disease_name DISEASE_NAME:man1c1_related_disorder MAN1C1-related disorder Supplemental_disease_name DISEASE_NAME:man2b1_related_disorder MAN2B1-related disorder Supplemental_disease_name DISEASE_NAME:man2b2_related_disorder MAN2B2-related disorder Supplemental_disease_name DISEASE_NAME:man2c1_related_disorder MAN2C1-related disorder Supplemental_disease_name DISEASE_NAME:manba_related_disorder MANBA-related disorder Supplemental_disease_name DISEASE_NAME:mandibular_hypoplasia_deafness_progeroid_syndrome Mandibular hypoplasia-deafness-progeroid syndrome Supplemental_disease_name DISEASE_NAME:mandibular_hypoplasia_deafness_progeroid_syndrome_adenomatous_polyp_of_colon_colorectal_cancer_susceptibility_to_10 Mandibular hypoplasia-deafness-progeroid syndrome;Adenomatous polyp of colon;Colorectal cancer, susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:mandibular_hypoplasia_deafness_progeroid_syndrome_colorectal_cancer_susceptibility_to_10 Mandibular hypoplasia-deafness-progeroid syndrome;Colorectal cancer, susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:mandibular_hypoplasia_deafness_progeroid_syndrome_colorectal_cancer_susceptibility_to_10_immunodeficiency_120 Mandibular hypoplasia-deafness-progeroid syndrome;Colorectal cancer, susceptibility to, 10;Immunodeficiency 120 Supplemental_disease_name DISEASE_NAME:mandibular_hypoplasia_deafness_progeroid_syndrome_familial_colorectal_cancer Mandibular hypoplasia-deafness-progeroid syndrome;Familial colorectal cancer Supplemental_disease_name DISEASE_NAME:mandibular_hypoplasia_deafness_progeroid_syndrome_immunodeficiency_120_colorectal_cancer_susceptibility_to_10 Mandibular hypoplasia-deafness-progeroid syndrome;Immunodeficiency 120;Colorectal cancer, susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:mandibular_prognathia Mandibular prognathia Supplemental_disease_name DISEASE_NAME:mandibuloacral_dysplasia_progeroid_syndrome Mandibuloacral dysplasia progeroid syndrome Supplemental_disease_name DISEASE_NAME:mandibuloacral_dysplasia_with_type_a_lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy Supplemental_disease_name DISEASE_NAME:mandibuloacral_dysplasia_with_type_a_lipodystrophy_atypical Mandibuloacral dysplasia with type A lipodystrophy, atypical Supplemental_disease_name DISEASE_NAME:mandibuloacral_dysplasia_with_type_a_lipodystrophy_congenital_muscular_dystrophy_due_to_lmna_mutation_emery_dreifuss_muscular_dystrophy_3_autosomal_recessive_emery_dreifuss_muscular_dystrophy_2_autosomal_dominant_heart_hand_syndrome_slovenian_type Mandibuloacral dysplasia with type A lipodystrophy;Congenital muscular dystrophy due to LMNA mutation;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Heart-hand syndrome, Slovenian type Supplemental_disease_name DISEASE_NAME:mandibuloacral_dysplasia_with_type_b_lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Supplemental_disease_name DISEASE_NAME:mandibuloacral_dysplasia_with_type_b_lipodystrophy_lethal_tight_skin_contracture_syndrome Mandibuloacral dysplasia with type B lipodystrophy;Lethal tight skin contracture syndrome Supplemental_disease_name DISEASE_NAME:mandibuloacral_dysplasia_with_type_b_lipodystrophy_restrictive_dermopathy_1 Mandibuloacral dysplasia with type B lipodystrophy;Restrictive dermopathy 1 Supplemental_disease_name DISEASE_NAME:mandibulofacial_dysostosis_with_alopecia_migraine_with_or_without_aura_susceptibility_to_1 Mandibulofacial dysostosis with alopecia;Migraine with or without aura, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:mandibulofacial_dysostosis_with_mental_deficiency Mandibulofacial dysostosis with mental deficiency Supplemental_disease_name DISEASE_NAME:maneal_associated_disorder MANEAL-associated disorder Supplemental_disease_name DISEASE_NAME:manf_related_disorder MANF-related disorder Supplemental_disease_name DISEASE_NAME:mannose_binding_lectin_deficiency Mannose-binding lectin deficiency Supplemental_disease_name DISEASE_NAME:mannose_phosphate_isomerase_congenital_disorder_of_glycosylation Mannose phosphate isomerase-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:maoa_related_disorder MAOA-related disorder Supplemental_disease_name DISEASE_NAME:map1a_related_disorder MAP1A-related disorder Supplemental_disease_name DISEASE_NAME:map1b_related_disorder MAP1B-related disorder Supplemental_disease_name DISEASE_NAME:map2_associated_neurodevelopmental_disorder MAP2-associated Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:map2k1_related_disorder MAP2K1-related disorder Supplemental_disease_name DISEASE_NAME:map2k1_related_rasopathy MAP2K1-related RASopathy Supplemental_disease_name DISEASE_NAME:map2k1_related_rasopathy_like_syndrome MAP2K1-related rasopathy-like syndrome Supplemental_disease_name DISEASE_NAME:map2k2_related_disorder MAP2K2-related disorder Supplemental_disease_name DISEASE_NAME:map2k3_related_disorder MAP2K3-related disorder Supplemental_disease_name DISEASE_NAME:map3k14_related_disorder MAP3K14-related disorder Supplemental_disease_name DISEASE_NAME:map3k15_related_disorder MAP3K15-related disorder Supplemental_disease_name DISEASE_NAME:map3k1_related_disorder MAP3K1-related disorder Supplemental_disease_name DISEASE_NAME:map3k20_related_disorder MAP3K20-related disorder Supplemental_disease_name DISEASE_NAME:map3k2_related_condition MAP3K2-related condition Supplemental_disease_name DISEASE_NAME:map3k3_related_disorder MAP3K3-related disorder Supplemental_disease_name DISEASE_NAME:map3k6_related_disorder MAP3K6-related disorder Supplemental_disease_name DISEASE_NAME:map3k7_related_disorder MAP3K7-related disorder Supplemental_disease_name DISEASE_NAME:map3k8_related_disorder MAP3K8-related disorder Supplemental_disease_name DISEASE_NAME:map4_related_disorder MAP4-related disorder Supplemental_disease_name DISEASE_NAME:map4k4_related_autism_spectrum_disorder MAP4K4-related autism spectrum disorder Supplemental_disease_name DISEASE_NAME:map4k4_related_disorder MAP4K4-related disorder Supplemental_disease_name DISEASE_NAME:map4k4_related_neurodevelopmental_delay MAP4K4-related neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:map6d1_related_disorder MAP6D1-related disorder Supplemental_disease_name DISEASE_NAME:map7d3_related_disorder MAP7D3-related disorder Supplemental_disease_name DISEASE_NAME:mapk10_related_disorder MAPK10-related disorder Supplemental_disease_name DISEASE_NAME:mapk1_related_disorder MAPK1-related disorder Supplemental_disease_name DISEASE_NAME:mapk3_related_disorder MAPK3-related disorder Supplemental_disease_name DISEASE_NAME:mapk8_related_disorder MAPK8-related disorder Supplemental_disease_name DISEASE_NAME:mapk8ip1_related_disorder MAPK8IP1-related disorder Supplemental_disease_name DISEASE_NAME:mapk8ip3_related_disorder MAPK8IP3-related disorder Supplemental_disease_name DISEASE_NAME:mapkapk3_related_disorder MAPKAPK3-related disorder Supplemental_disease_name DISEASE_NAME:mapkbp1_related_disorder MAPKBP1-related disorder Supplemental_disease_name DISEASE_NAME:maple_syrup_urine_disease_mild_variant Maple syrup urine disease, mild variant Supplemental_disease_name DISEASE_NAME:maple_syrup_urine_disease_type_1a Maple syrup urine disease type 1A Supplemental_disease_name DISEASE_NAME:maple_syrup_urine_disease_type_1b Maple syrup urine disease type 1B Supplemental_disease_name DISEASE_NAME:maple_syrup_urine_disease_type_2 Maple syrup urine disease type 2 Supplemental_disease_name DISEASE_NAME:mapre2_related_disorder MAPRE2-related disorder Supplemental_disease_name DISEASE_NAME:mapt_related_disorder MAPT-related disorder Supplemental_disease_name DISEASE_NAME:mapt_related_spectrum_disorders MAPT-Related Spectrum Disorders Supplemental_disease_name DISEASE_NAME:marbach_rustad_progeroid_syndrome Marbach-Rustad progeroid syndrome Supplemental_disease_name DISEASE_NAME:marbach_schaaf_neurodevelopmental_syndrome Marbach-Schaaf neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:marchf10_related_disorder MARCHF10-related disorder Supplemental_disease_name DISEASE_NAME:marchf6_related_disorder MARCHF6-related disorder Supplemental_disease_name DISEASE_NAME:marden_walker_syndrome Marden-Walker syndrome Supplemental_disease_name DISEASE_NAME:marden_walker_syndrome_arthrogryposis_oculomotor_limitation_electroretinal_anomalies_syndrome_arthrogryposis_distal_with_impaired_proprioception_and_touch_gordon_syndrome Marden-Walker syndrome;Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Gordon syndrome Supplemental_disease_name DISEASE_NAME:marfan_syndrome_atypical Marfan syndrome, atypical Supplemental_disease_name DISEASE_NAME:marfan_syndrome_autosomal_recessive MARFAN SYNDROME, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:marfan_syndrome_familial_thoracic_aortic_aneurysm_and_aortic_dissection Marfan syndrome;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:marfan_syndrome_incomplete Marfan syndrome, incomplete Supplemental_disease_name DISEASE_NAME:marfan_syndrome_left_ventricular_diastolic_dysfunction Marfan syndrome;Left ventricular diastolic dysfunction Supplemental_disease_name DISEASE_NAME:marfan_syndrome_loeys_dietz_syndrome_1 Marfan syndrome;Loeys-Dietz syndrome 1 Supplemental_disease_name DISEASE_NAME:marfan_syndrome_loeys_dietz_syndrome_familial_thoracic_aortic_aneurysms_and_dissections Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Supplemental_disease_name DISEASE_NAME:marfan_syndrome_mass_syndrome_stiff_skin_syndrome_ectopia_lentis_1_isolated_autosomal_dominant_familial_thoracic_aortic_aneurysm_and_aortic_dissection Marfan syndrome;MASS syndrome;Stiff skin syndrome;Ectopia lentis 1, isolated, autosomal dominant;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:marfan_syndrome_mild MARFAN SYNDROME, MILD Supplemental_disease_name DISEASE_NAME:marfan_syndrome_mild_variable MARFAN SYNDROME, MILD VARIABLE Supplemental_disease_name DISEASE_NAME:marfan_syndrome_progeroid_and_marfanoid_aspect_lipodystrophy_syndrome Marfan syndrome;Progeroid and marfanoid aspect-lipodystrophy syndrome Supplemental_disease_name DISEASE_NAME:marfan_syndrome_severe_classic MARFAN SYNDROME, SEVERE CLASSIC Supplemental_disease_name DISEASE_NAME:marfanoid_habitus_and_intellectual_disability Marfanoid habitus and intellectual disability Supplemental_disease_name DISEASE_NAME:marinesco_sjögren_syndrome Marinesco-Sjögren syndrome Supplemental_disease_name DISEASE_NAME:mark2_associated_disorder MARK2-associated disorder Supplemental_disease_name DISEASE_NAME:mark2_associated_neurodevelopmental_disorder MARK2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:mark3_related_disorder MARK3-related disorder Supplemental_disease_name DISEASE_NAME:marked_facial_dysmorphism_profound_global_developmental_delay_progressive_microcephaly_failure_to_thrive marked facial dysmorphism;Profound global developmental delay;Progressive microcephaly;Failure to thrive Supplemental_disease_name DISEASE_NAME:marked_hypotonia_waddling_gait Marked Hypotonia;Waddling gait Supplemental_disease_name DISEASE_NAME:mars1_related_disorder MARS1-related disorder Supplemental_disease_name DISEASE_NAME:mars2_related_disorder MARS2-related disorder Supplemental_disease_name DISEASE_NAME:mars_related_disorder MARS-related disorder Supplemental_disease_name DISEASE_NAME:marshall_smith_syndrome_malan_overgrowth_syndrome Marshall-Smith syndrome;Malan overgrowth syndrome Supplemental_disease_name DISEASE_NAME:marshall_stickler_syndrome Marshall/Stickler syndrome Supplemental_disease_name DISEASE_NAME:marshall_syndrome_fibrochondrogenesis_1_hearing_loss_autosomal_dominant_37_intervertebral_disc_disorder_stickler_syndrome_type_2 Marshall syndrome;Fibrochondrogenesis 1;Hearing loss, autosomal dominant 37;Intervertebral disc disorder;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:marshall_syndrome_fibrochondrogenesis_1_stickler_syndrome_type_2 Marshall syndrome;Fibrochondrogenesis 1;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:marshall_syndrome_hearing_loss_autosomal_dominant_37_fibrochondrogenesis_1_intervertebral_disc_disorder_stickler_syndrome_type_2 Marshall syndrome;Hearing loss, autosomal dominant 37;Fibrochondrogenesis 1;Intervertebral disc disorder;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:marshall_syndrome_hearing_loss_autosomal_dominant_37_fibrochondrogenesis_1_stickler_syndrome_type_2 Marshall syndrome;Hearing loss, autosomal dominant 37;Fibrochondrogenesis 1;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:marshall_syndrome_hearing_loss_autosomal_dominant_37_stickler_syndrome_type_2 Marshall syndrome;Hearing loss, autosomal dominant 37;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:marshall_syndrome_intervertebral_disc_disorder_stickler_syndrome_type_2_hearing_loss_autosomal_dominant_37_fibrochondrogenesis_1 Marshall syndrome;Intervertebral disc disorder;Stickler syndrome type 2;Hearing loss, autosomal dominant 37;Fibrochondrogenesis 1 Supplemental_disease_name DISEASE_NAME:marshall_syndrome_stickler_syndrome Marshall syndrome;Stickler syndrome Supplemental_disease_name DISEASE_NAME:marshall_syndrome_stickler_syndrome_type_2 Marshall syndrome;Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:martsolf_syndrome_1 Martsolf syndrome 1 Supplemental_disease_name DISEASE_NAME:martsolf_syndrome_1_warburg_micro_syndrome_2 Martsolf syndrome 1;Warburg micro syndrome 2 Supplemental_disease_name DISEASE_NAME:martsolf_syndrome_2 Martsolf syndrome 2 Supplemental_disease_name DISEASE_NAME:martsolf_syndrome_2_warburg_micro_syndrome_1 Martsolf syndrome 2;Warburg micro syndrome 1 Supplemental_disease_name DISEASE_NAME:martsolf_syndrome_warburg_micro_syndrome_2 Martsolf syndrome;Warburg micro syndrome 2 Supplemental_disease_name DISEASE_NAME:marveld2_related_disorder MARVELD2-related disorder Supplemental_disease_name DISEASE_NAME:masa_syndrome_x_linked_complicated_corpus_callosum_dysgenesis_x_linked_hydrocephalus_syndrome MASA syndrome;X-linked complicated corpus callosum dysgenesis;X-linked hydrocephalus syndrome Supplemental_disease_name DISEASE_NAME:masa_syndrome_x_linked_hydrocephalus_syndrome MASA syndrome;X-linked hydrocephalus syndrome Supplemental_disease_name DISEASE_NAME:masa_syndrome_x_linked_hydrocephalus_syndrome_x_linked_complicated_corpus_callosum_dysgenesis MASA syndrome;X-linked hydrocephalus syndrome;X-linked complicated corpus callosum dysgenesis Supplemental_disease_name DISEASE_NAME:masp1_related_disorder MASP1-related disorder Supplemental_disease_name DISEASE_NAME:masp2_related_disorder MASP2-related disorder Supplemental_disease_name DISEASE_NAME:mass_syndrome MASS syndrome Supplemental_disease_name DISEASE_NAME:mass_syndrome_familial_thoracic_aortic_aneurysm_and_aortic_dissection_stiff_skin_syndrome_marfan_syndrome MASS syndrome;Familial thoracic aortic aneurysm and aortic dissection;Stiff skin syndrome;Marfan syndrome Supplemental_disease_name DISEASE_NAME:mast1_related_disorder MAST1-related disorder Supplemental_disease_name DISEASE_NAME:mast3_related_disorder MAST3-related disorder Supplemental_disease_name DISEASE_NAME:mast4_associated_generalized_epilepsy MAST4-associated generalized epilepsy Supplemental_disease_name DISEASE_NAME:mast4_related_disorder MAST4-related disorder Supplemental_disease_name DISEASE_NAME:mast_associated_epilepsy_syndrome MAST-associated epilepsy syndrome Supplemental_disease_name DISEASE_NAME:mast_cell_leukemia_somatic MAST CELL LEUKEMIA, SOMATIC Supplemental_disease_name DISEASE_NAME:mastl_related_disorder MASTL-related disorder Supplemental_disease_name DISEASE_NAME:mastocytosis_cutaneous_and_systemic_somatic MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC Supplemental_disease_name DISEASE_NAME:mastocytosis_gastrointestinal_stromal_tumor Mastocytosis;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:mastocytosis_gastrointestinal_stromal_tumor_piebaldism_malignant_tumor_of_testis_acute_myeloid_leukemia Mastocytosis;Gastrointestinal stromal tumor;Piebaldism;Malignant tumor of testis;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:mastocytosis_systemic_somatic MASTOCYTOSIS, SYSTEMIC, SOMATIC Supplemental_disease_name DISEASE_NAME:mastocytosis_with_associated_hematologic_disorder_somatic MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC Supplemental_disease_name DISEASE_NAME:mat1a_related_disorder MAT1A-related disorder Supplemental_disease_name DISEASE_NAME:mat2a_related_disorder MAT2A-related disorder Supplemental_disease_name DISEASE_NAME:maternal_riboflavin_deficiency Maternal riboflavin deficiency Supplemental_disease_name DISEASE_NAME:maternally_inherited_mitochondrial_myopathy Maternally-inherited mitochondrial myopathy Supplemental_disease_name DISEASE_NAME:maternally_inherited_spastic_paraplegia Maternally-inherited spastic paraplegia Supplemental_disease_name DISEASE_NAME:matn3_related_disorder MATN3-related disorder Supplemental_disease_name DISEASE_NAME:matn4_related_disorder MATN4-related disorder Supplemental_disease_name DISEASE_NAME:matr3_related_disorder MATR3-related disorder Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_mellitus_in_young Maturity onset diabetes mellitus in young Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_hyperglycemia Maturity-onset diabetes of the young;Hyperglycemia Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_10_diabetes_mellitus_permanent_neonatal_4_hyperproinsulinemia_type_1_diabetes_mellitus_2 Maturity-onset diabetes of the young type 10;Diabetes mellitus, permanent neonatal 4;Hyperproinsulinemia;Type 1 diabetes mellitus 2 Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_10_diabetes_mellitus_permanent_neonatal_4_type_1_diabetes_mellitus_2 Maturity-onset diabetes of the young type 10;Diabetes mellitus, permanent neonatal 4;Type 1 diabetes mellitus 2 Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_10_diabetes_mellitus_permanent_neonatal_4_type_1_diabetes_mellitus_2_hyperproinsulinemia Maturity-onset diabetes of the young type 10;Diabetes mellitus, permanent neonatal 4;Type 1 diabetes mellitus 2;Hyperproinsulinemia Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_10_hyperproinsulinemia_diabetes_mellitus_permanent_neonatal_4_type_1_diabetes_mellitus_2 Maturity-onset diabetes of the young type 10;Hyperproinsulinemia;Diabetes mellitus, permanent neonatal 4;Type 1 diabetes mellitus 2 Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_12 Maturity-onset diabetes of the young, type 12 Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_13_diabetes_mellitus_permanent_neonatal_2_diabetes_mellitus_transient_neonatal_3_hyperinsulinemic_hypoglycemia_familial_2 Maturity-onset diabetes of the young type 13;Diabetes mellitus, permanent neonatal 2;Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2 Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_13_diabetes_mellitus_transient_neonatal_3_diabetes_mellitus_permanent_neonatal_2_hyperinsulinemic_hypoglycemia_familial_2_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 13;Diabetes mellitus, transient neonatal, 3;Diabetes mellitus, permanent neonatal 2;Hyperinsulinemic hypoglycemia, familial, 2;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_13_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 13;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_1_fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young Maturity-onset diabetes of the young type 1;Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_1_fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 1;Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_1_type_2_diabetes_mellitus_fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young Maturity-onset diabetes of the young type 1;Type 2 diabetes mellitus;Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_2_hyperinsulinemic_hypoglycemia_familial_3_permanent_neonatal_diabetes_mellitus_1_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 2;Hyperinsulinemic hypoglycemia, familial, 3;Permanent neonatal diabetes mellitus 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_2_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 2;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_3_type_2_diabetes_mellitus_type_1_diabetes_mellitus_20_diabetes_mellitus_type_1 Maturity-onset diabetes of the young type 3;Type 2 diabetes mellitus;Type 1 diabetes mellitus 20;Diabetes mellitus type 1 Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_4_pancreatic_agenesis_1 Maturity-onset diabetes of the young type 4;Pancreatic agenesis 1 Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_4_pancreatic_agenesis_1_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 4;Pancreatic agenesis 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_4_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 4;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_4_type_2_diabetes_mellitus_pancreatic_agenesis_1 Maturity-onset diabetes of the young type 4;Type 2 diabetes mellitus;Pancreatic agenesis 1 Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_6_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 6;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_9_diabetes_mellitus_ketosis_prone_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 9;Diabetes mellitus, ketosis-prone;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:maturity_onset_diabetes_of_the_young_type_9_type_2_diabetes_mellitus Maturity-onset diabetes of the young type 9;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:mau2_related_chromatinopathy MAU2-related chromatinopathy Supplemental_disease_name DISEASE_NAME:mauriac_syndrome Mauriac syndrome Supplemental_disease_name DISEASE_NAME:max_associated_macrocephaly_and_polydactyly_syndrome MAX-associated Macrocephaly and Polydactyly syndrome Supplemental_disease_name DISEASE_NAME:max_related_disorder MAX-related disorder Supplemental_disease_name DISEASE_NAME:may_hegglin_disorder May-Hegglin Disorder Supplemental_disease_name DISEASE_NAME:mayer_rokitansky_kuster_hauser_syndrome_renal_hypodysplasia_aplasia_3 Mayer-Rokitansky-Kuster-Hauser syndrome;Renal hypodysplasia/aplasia 3 Supplemental_disease_name DISEASE_NAME:mayer_rokitansky_küster_hauser_syndrome_type_2 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Supplemental_disease_name DISEASE_NAME:mbd1_related_disorder MBD1-related disorder Supplemental_disease_name DISEASE_NAME:mbd4_related_disorder MBD4-related disorder Supplemental_disease_name DISEASE_NAME:mbd5_associated_neurodevelopmental_disorder MBD5 associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:mbd5_related_disorder MBD5-related disorder Supplemental_disease_name DISEASE_NAME:mbd6_related_disorder MBD6-related disorder Supplemental_disease_name DISEASE_NAME:mbl2_related_disorder MBL2-related disorder Supplemental_disease_name DISEASE_NAME:mbnl1_related_disorder MBNL1-related disorder Supplemental_disease_name DISEASE_NAME:mbnl3_related_disorder MBNL3-related disorder Supplemental_disease_name DISEASE_NAME:mboat7_related_disorder MBOAT7-related disorder Supplemental_disease_name DISEASE_NAME:mbtps1_related_disorder MBTPS1-related disorder Supplemental_disease_name DISEASE_NAME:mbtps2_related_disorder MBTPS2-related disorder Supplemental_disease_name DISEASE_NAME:mc1r_related_disorder MC1R-related disorder Supplemental_disease_name DISEASE_NAME:mc2r_related_disorder MC2R-related disorder Supplemental_disease_name DISEASE_NAME:mc3r_related_disorder MC3R-related disorder Supplemental_disease_name DISEASE_NAME:mc4r_polymorphism MC4R POLYMORPHISM Supplemental_disease_name DISEASE_NAME:mc4r_related_disorder MC4R-related disorder Supplemental_disease_name DISEASE_NAME:mcadd_medium_chain_acyl_coa_dehydrogenase_deficiency_full_acadm_sequencing_newborn_screening_follow_up MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up Supplemental_disease_name DISEASE_NAME:mcardle_disease_mild McArdle disease, mild Supplemental_disease_name DISEASE_NAME:mcat_related_condition MCAT-related condition Supplemental_disease_name DISEASE_NAME:mccc1_related_disorder MCCC1-related disorder Supplemental_disease_name DISEASE_NAME:mccc2_related_disorder MCCC2-related disorder Supplemental_disease_name DISEASE_NAME:mcee_related_disorder MCEE-related disorder Supplemental_disease_name DISEASE_NAME:mcfd2_related_disorder MCFD2-related disorder Supplemental_disease_name DISEASE_NAME:mchr1_related_disorder MCHR1-related disorder Supplemental_disease_name DISEASE_NAME:mcidas_related_disorder MCIDAS-related disorder Supplemental_disease_name DISEASE_NAME:mckusick_kaufman_syndrome_bardet_biedl_syndrome McKusick-Kaufman syndrome;Bardet-Biedl syndrome Supplemental_disease_name DISEASE_NAME:mckusick_kaufman_syndrome_bardet_biedl_syndrome_6 McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 Supplemental_disease_name DISEASE_NAME:mcm2_related_disorder MCM2-related disorder Supplemental_disease_name DISEASE_NAME:mcm3ap_related_disorder MCM3AP-related disorder Supplemental_disease_name DISEASE_NAME:mcm4_related_disorder MCM4-related disorder Supplemental_disease_name DISEASE_NAME:mcm5_related_disorder MCM5-related disorder Supplemental_disease_name DISEASE_NAME:mcm6_related_disorder MCM6-related disorder Supplemental_disease_name DISEASE_NAME:mcm7_related_disorder MCM7-related disorder Supplemental_disease_name DISEASE_NAME:mcm8_related_disorder MCM8-related disorder Supplemental_disease_name DISEASE_NAME:mcm9_related_disorder MCM9-related disorder Supplemental_disease_name DISEASE_NAME:mcoln1_related_disorder MCOLN1-related disorder Supplemental_disease_name DISEASE_NAME:mcph1_related_disorder MCPH1-related disorder Supplemental_disease_name DISEASE_NAME:mctp2_related_disorder MCTP2-related disorder Supplemental_disease_name DISEASE_NAME:mdfic_related_disorder MDFIC-related disorder Supplemental_disease_name DISEASE_NAME:mdga2_related_intellectual_disability MDGA2-related intellectual disability Supplemental_disease_name DISEASE_NAME:mdh2_related_disorder MDH2-related disorder Supplemental_disease_name DISEASE_NAME:mdm2_related_condition MDM2-related condition Supplemental_disease_name DISEASE_NAME:mdm4_related_disorder MDM4-related disorder Supplemental_disease_name DISEASE_NAME:mdn1_related_disorder MDN1-related disorder Supplemental_disease_name DISEASE_NAME:mdr1_polymorphism MDR1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:me2_related_disorder ME2-related disorder Supplemental_disease_name DISEASE_NAME:meacham_syndrome Meacham syndrome Supplemental_disease_name DISEASE_NAME:meacham_syndrome_drash_syndrome_nephrotic_syndrome_type_4_frasier_syndrome Meacham syndrome;Drash syndrome;Nephrotic syndrome, type 4;Frasier syndrome Supplemental_disease_name DISEASE_NAME:meckel_gruber_like_syndrome Meckel-Gruber-like syndrome Supplemental_disease_name DISEASE_NAME:meckel_gruber_syndrome_joubert_syndrome Meckel-Gruber syndrome;Joubert syndrome Supplemental_disease_name DISEASE_NAME:meckel_gruber_syndrome_joubert_syndrome_nephronophthisis Meckel-Gruber syndrome;Joubert syndrome;Nephronophthisis Supplemental_disease_name DISEASE_NAME:meckel_gruber_syndrome_nephronophthisis_joubert_syndrome Meckel-Gruber syndrome;Nephronophthisis;Joubert syndrome Supplemental_disease_name DISEASE_NAME:meckel_gruber_syndrome_renal_hepatic_pancreatic_dysplasia_1_nephronophthisis_renal_dysplasia_and_retinal_aplasia_joubert_syndrome Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia 1;Nephronophthisis;Renal dysplasia and retinal aplasia;Joubert syndrome Supplemental_disease_name DISEASE_NAME:meckel_like_syndrome Meckel-like syndrome Supplemental_disease_name DISEASE_NAME:meckel_syndrome_13_orofaciodigital_syndrome_16 Meckel syndrome 13;Orofaciodigital syndrome 16 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_1 Meckel syndrome, type 1 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_10 Meckel syndrome, type 10 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_11 Meckel syndrome, type 11 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_11_joubert_syndrome_20 Meckel syndrome, type 11;Joubert syndrome 20 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_1_bardet_biedl_syndrome_13_joubert_syndrome_28 Meckel syndrome, type 1;Bardet-Biedl syndrome 13;Joubert syndrome 28 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_1_joubert_syndrome_28_bardet_biedl_syndrome_13 Meckel syndrome, type 1;Joubert syndrome 28;Bardet-Biedl syndrome 13 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_1_leber_congenital_amaurosis_6 Meckel syndrome, type 1;Leber congenital amaurosis 6 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_2 Meckel syndrome, type 2 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_2_joubert_syndrome_2 Meckel syndrome, type 2;Joubert syndrome 2 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_3 Meckel syndrome, type 3 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_3_nephronophthisis_11_joubert_syndrome_6 Meckel syndrome, type 3;Nephronophthisis 11;Joubert syndrome 6 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4 Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_senior_loken_syndrome_6_joubert_syndrome_5 Meckel syndrome, type 4;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Senior-Loken syndrome 6;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_bardet_biedl_syndrome_14_senior_loken_syndrome_6_leber_congenital_amaurosis_10_joubert_syndrome_5 Meckel syndrome, type 4;Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Leber congenital amaurosis 10;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_joubert_syndrome_5 Meckel syndrome, type 4;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_joubert_syndrome_5_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_senior_loken_syndrome_6 Meckel syndrome, type 4;Joubert syndrome 5;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_joubert_syndrome_5_bardet_biedl_syndrome_14_senior_loken_syndrome_6 Meckel syndrome, type 4;Joubert syndrome 5;Bardet-Biedl syndrome 14;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_joubert_syndrome_5_leber_congenital_amaurosis_10_senior_loken_syndrome_6 Meckel syndrome, type 4;Joubert syndrome 5;Leber congenital amaurosis 10;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_joubert_syndrome_5_leber_congenital_amaurosis_10_senior_loken_syndrome_6_bardet_biedl_syndrome_14 Meckel syndrome, type 4;Joubert syndrome 5;Leber congenital amaurosis 10;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_leber_congenital_amaurosis_10_bardet_biedl_syndrome_14_senior_loken_syndrome_6_joubert_syndrome_5 Meckel syndrome, type 4;Leber congenital amaurosis 10;Bardet-Biedl syndrome 14;Senior-Loken syndrome 6;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_leber_congenital_amaurosis_10_joubert_syndrome_5_bardet_biedl_syndrome_14_senior_loken_syndrome_6 Meckel syndrome, type 4;Leber congenital amaurosis 10;Joubert syndrome 5;Bardet-Biedl syndrome 14;Senior-Loken syndrome 6 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_leber_congenital_amaurosis_10_senior_loken_syndrome_6_bardet_biedl_syndrome_14_joubert_syndrome_5 Meckel syndrome, type 4;Leber congenital amaurosis 10;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_leber_congenital_amaurosis_10_senior_loken_syndrome_6_joubert_syndrome_5_bardet_biedl_syndrome_14 Meckel syndrome, type 4;Leber congenital amaurosis 10;Senior-Loken syndrome 6;Joubert syndrome 5;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_senior_loken_syndrome_6_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_joubert_syndrome_5 Meckel syndrome, type 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_senior_loken_syndrome_6_joubert_syndrome_5 Meckel syndrome, type 4;Senior-Loken syndrome 6;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_senior_loken_syndrome_6_joubert_syndrome_5_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10 Meckel syndrome, type 4;Senior-Loken syndrome 6;Joubert syndrome 5;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4_senior_loken_syndrome_6_leber_congenital_amaurosis_10_bardet_biedl_syndrome_14_joubert_syndrome_5 Meckel syndrome, type 4;Senior-Loken syndrome 6;Leber congenital amaurosis 10;Bardet-Biedl syndrome 14;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_5 Meckel syndrome, type 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_5_coach_syndrome_1_joubert_syndrome_7 Meckel syndrome, type 5;COACH syndrome 1;Joubert syndrome 7 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_5_coach_syndrome_3_joubert_syndrome_7 Meckel syndrome, type 5;COACH syndrome 3;Joubert syndrome 7 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_5_joubert_syndrome_7_coach_syndrome_1 Meckel syndrome, type 5;Joubert syndrome 7;COACH syndrome 1 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_5_joubert_syndrome_7_coach_syndrome_3 Meckel syndrome, type 5;Joubert syndrome 7;COACH syndrome 3 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6 Meckel syndrome, type 6 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_coach_syndrome_1_joubert_syndrome_9 Meckel syndrome, type 6;COACH syndrome 1;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_coach_syndrome_2_joubert_syndrome_9 Meckel syndrome, type 6;COACH syndrome 2;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_coach_syndrome_2_joubert_syndrome_9_retinitis_pigmentosa_93 Meckel syndrome, type 6;COACH syndrome 2;Joubert syndrome 9;Retinitis pigmentosa 93 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_coach_syndrome_2_retinitis_pigmentosa_93_joubert_syndrome_9 Meckel syndrome, type 6;COACH syndrome 2;Retinitis pigmentosa 93;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_joubert_syndrome_9 Meckel syndrome, type 6;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_joubert_syndrome_9_coach_syndrome_1 Meckel syndrome, type 6;Joubert syndrome 9;COACH syndrome 1 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_joubert_syndrome_9_coach_syndrome_2_retinitis_pigmentosa_93 Meckel syndrome, type 6;Joubert syndrome 9;COACH syndrome 2;Retinitis pigmentosa 93 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_joubert_syndrome_9_retinitis_pigmentosa_93_coach_syndrome_2 Meckel syndrome, type 6;Joubert syndrome 9;Retinitis pigmentosa 93;COACH syndrome 2 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_modifier_of Meckel syndrome, type 6, modifier of Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_retinitis_pigmentosa_93_coach_syndrome_2_joubert_syndrome_9 Meckel syndrome, type 6;Retinitis pigmentosa 93;COACH syndrome 2;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6_retinitis_pigmentosa_93_joubert_syndrome_9_coach_syndrome_2 Meckel syndrome, type 6;Retinitis pigmentosa 93;Joubert syndrome 9;COACH syndrome 2 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_8 Meckel syndrome, type 8 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_8_joubert_syndrome_24 Meckel syndrome, type 8;Joubert syndrome 24 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_9 Meckel syndrome, type 9 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_9_joubert_syndrome_27 Meckel syndrome, type 9;Joubert syndrome 27 Supplemental_disease_name DISEASE_NAME:mecom_associated_syndrome MECOM-associated syndrome Supplemental_disease_name DISEASE_NAME:mecom_related_disorder MECOM-related disorder Supplemental_disease_name DISEASE_NAME:meconium_ileus Meconium ileus Supplemental_disease_name DISEASE_NAME:mecp2_related_disorder MECP2-related disorder Supplemental_disease_name DISEASE_NAME:mecr_related_disorder MECR-related disorder Supplemental_disease_name DISEASE_NAME:med12_related_disorders MED12-Related Disorders Supplemental_disease_name DISEASE_NAME:med12_related_intellectual_disability_syndrome MED12-related intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:med12_related_intellectual_disability_syndrome_x_linked_intellectual_disability_with_marfanoid_habitus_fg_syndrome MED12-related intellectual disability syndrome;X-linked intellectual disability with marfanoid habitus;FG syndrome Supplemental_disease_name DISEASE_NAME:med12_related_intellectual_disability_syndrome_x_linked_intellectual_disability_with_marfanoid_habitus_fg_syndrome_blepharophimosis_intellectual_disability_syndrome_mkb_type MED12-related intellectual disability syndrome;X-linked intellectual disability with marfanoid habitus;FG syndrome;Blepharophimosis - intellectual disability syndrome, MKB type Supplemental_disease_name DISEASE_NAME:med12_related_neurodevelopmental_delay MED12-related neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:med12l_associated_neurodevelopmental_disorder MED12L-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:med12l_related_disorder MED12L-related disorder Supplemental_disease_name DISEASE_NAME:med12l_related_neurodevelopmental_disorder MED12L-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:med13_associated_disorder MED13-associated disorder Supplemental_disease_name DISEASE_NAME:med13_related_disorder MED13-related disorder Supplemental_disease_name DISEASE_NAME:med13_related_neurodevelopmental_disorder MED13-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:med13l_related_disorder MED13L-related disorder Supplemental_disease_name DISEASE_NAME:med13l_related_neurodevelopmental_disorder MED13L-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:med14_related_condition MED14-related condition Supplemental_disease_name DISEASE_NAME:med17_related_disorder MED17-related disorder Supplemental_disease_name DISEASE_NAME:med1_related_condition MED1-related condition Supplemental_disease_name DISEASE_NAME:med23_related_disorder MED23-related disorder Supplemental_disease_name DISEASE_NAME:med25_related_disorder MED25-related disorder Supplemental_disease_name DISEASE_NAME:median_cleft_lip_and_palate Median cleft lip and palate Supplemental_disease_name DISEASE_NAME:median_cleft_lip_and_palate_dysgenesis_of_the_cerebellar_vermis_polydactyly_encephalocele Median cleft lip and palate;Dysgenesis of the cerebellar vermis;Polydactyly;Encephalocele Supplemental_disease_name DISEASE_NAME:mediastinal_germ_cell_tumor_acute_megakaryoblastic_leukemia Mediastinal germ cell tumor;Acute megakaryoblastic leukemia Supplemental_disease_name DISEASE_NAME:medium_chain_acyl_coenzyme_a_dehydrogenase_deficiency Medium-chain acyl-coenzyme a dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_ii Medullary thyroid carcinoma;Multiple endocrine neoplasia II Supplemental_disease_name DISEASE_NAME:medulloblastoma_basal_cell_carcinoma_susceptibility_to_1 Medulloblastoma;Basal cell carcinoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:medulloblastoma_basal_cell_carcinoma_susceptibility_to_1_gorlin_syndrome Medulloblastoma;Basal cell carcinoma, susceptibility to, 1;Gorlin syndrome Supplemental_disease_name DISEASE_NAME:medulloblastoma_basal_cell_nevus_syndrome_2_familial_meningioma_joubert_syndrome_32 Medulloblastoma;Basal cell nevus syndrome 2;Familial meningioma;Joubert syndrome 32 Supplemental_disease_name DISEASE_NAME:medulloblastoma_familial_dysautonomia Medulloblastoma;Familial dysautonomia Supplemental_disease_name DISEASE_NAME:medulloblastoma_familial_meningioma_basal_cell_nevus_syndrome_2_joubert_syndrome_32 Medulloblastoma;Familial meningioma;Basal cell nevus syndrome 2;Joubert syndrome 32 Supplemental_disease_name DISEASE_NAME:medulloblastoma_familial_meningioma_gorlin_syndrome_joubert_syndrome_32 Medulloblastoma;Familial meningioma;Gorlin syndrome;Joubert syndrome 32 Supplemental_disease_name DISEASE_NAME:medulloblastoma_familial_meningioma_joubert_syndrome_32_basal_cell_nevus_syndrome_2 Medulloblastoma;Familial meningioma;Joubert syndrome 32;Basal cell nevus syndrome 2 Supplemental_disease_name DISEASE_NAME:medulloblastoma_gorlin_syndrome Medulloblastoma;Gorlin syndrome Supplemental_disease_name DISEASE_NAME:medulloblastoma_gorlin_syndrome_basal_cell_carcinoma_susceptibility_to_1 Medulloblastoma;Gorlin syndrome;Basal cell carcinoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:medulloblastoma_joubert_syndrome_32_familial_meningioma_basal_cell_nevus_syndrome_2 Medulloblastoma;Joubert syndrome 32;Familial meningioma;Basal cell nevus syndrome 2 Supplemental_disease_name DISEASE_NAME:meester_loeys_syndrome_x_linked_spondyloepimetaphyseal_dysplasia Meester-Loeys syndrome;X-linked spondyloepimetaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:mef2a_related_disorder MEF2A-related disorder Supplemental_disease_name DISEASE_NAME:mef2c_haploinsufficiency_syndrome MEF2C Haploinsufficiency Syndrome Supplemental_disease_name DISEASE_NAME:mef2c_related_complex_neurodevelopmental_disorder MEF2C-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:mef2c_related_disorder MEF2C-related disorder Supplemental_disease_name DISEASE_NAME:mef2d_related_disorder MEF2D-related disorder Supplemental_disease_name DISEASE_NAME:mefv_related_disorder MEFV-related disorder Supplemental_disease_name DISEASE_NAME:meg3_related_disorder MEG3-related disorder Supplemental_disease_name DISEASE_NAME:mega_corpus_callosum_syndrome Mega-corpus-callosum syndrome Supplemental_disease_name DISEASE_NAME:megabladder_congenital Megabladder, congenital Supplemental_disease_name DISEASE_NAME:megacolon_abnormal_facial_shape Megacolon;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_hypoperistalsis_syndrome Megacystis, microcolon, hypoperistalsis syndrome Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_hypoperistalsis_syndrome_1 Megacystis-Microcolon Hypoperistalsis Syndrome 1 Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_hypoperistalsis_syndrome_familial_thoracic_aortic_aneurysm_and_aortic_dissection Megacystis, microcolon, hypoperistalsis syndrome;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_1 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_1_aortic_aneurysm_familial_thoracic_7 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1;Aortic aneurysm, familial thoracic 7 Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_2 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_2_aortic_aneurysm_familial_thoracic_4_visceral_myopathy_2 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2;Aortic aneurysm, familial thoracic 4;Visceral myopathy 2 Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_2_familial_thoracic_aortic_aneurysm_and_aortic_dissection Megacystis-microcolon-intestinal hypoperistalsis syndrome 2;Familial thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_2_visceral_myopathy_2_aortic_aneurysm_familial_thoracic_4 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2;Visceral myopathy 2;Aortic aneurysm, familial thoracic 4 Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_3 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_4 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_5 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 Supplemental_disease_name DISEASE_NAME:megacystis_microcolon_intestinal_hypoperistalsis_syndrome_5_visceral_myopathy_1 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5;Visceral myopathy 1 Supplemental_disease_name DISEASE_NAME:megalencephalic_leukoencephalopathy_with_subcortical_cysts_1_megalencephalic_leukoencephalopathy_with_subcortical_cysts_2a_megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_or_without_intellectual_disability Megalencephalic leukoencephalopathy with subcortical cysts 1;Megalencephalic leukoencephalopathy with subcortical cysts 2A;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability Supplemental_disease_name DISEASE_NAME:megalencephalic_leukoencephalopathy_with_subcortical_cysts_2a_megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_or_without_intellectual_disability Megalencephalic leukoencephalopathy with subcortical cysts 2A;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability Supplemental_disease_name DISEASE_NAME:megalencephalic_leukoencephalopathy_with_subcortical_cysts_2a_megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_or_without_intellectual_disability_megalencephalic_leukoencephalopathy_with_subcortical_cysts_1 Megalencephalic leukoencephalopathy with subcortical cysts 2A;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability;Megalencephalic leukoencephalopathy with subcortical cysts 1 Supplemental_disease_name DISEASE_NAME:megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_impaired_intellectual_development MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT Supplemental_disease_name DISEASE_NAME:megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_or_without_intellectual_disability Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability Supplemental_disease_name DISEASE_NAME:megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_or_without_intellectual_disability_megalencephalic_leukoencephalopathy_with_subcortical_cysts_2a_megalencephalic_leukoencephalopathy_with_subcortical_cysts_1 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability;Megalencephalic leukoencephalopathy with subcortical cysts 2A;Megalencephalic leukoencephalopathy with subcortical cysts 1 Supplemental_disease_name DISEASE_NAME:megalencephalic_leukoencephalopathy_with_subcortical_cysts_3 Megalencephalic leukoencephalopathy with subcortical cysts 3 Supplemental_disease_name DISEASE_NAME:megalencephalic_leukoencephalopathy_with_subcortical_cysts_4_remitting Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting Supplemental_disease_name DISEASE_NAME:megalencephaly_capillary_malformation_polymicrogyria_syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Supplemental_disease_name DISEASE_NAME:megalencephaly_capillary_malformation_polymicrogyria_syndrome_noonan_syndrome_8 Megalencephaly-capillary malformation-polymicrogyria syndrome;Noonan syndrome 8 Supplemental_disease_name DISEASE_NAME:megalencephaly_leukodystrophy_hypotonia_cns_demyelination_global_developmental_delay Megalencephaly;Leukodystrophy;Hypotonia;CNS demyelination;Global developmental delay Supplemental_disease_name DISEASE_NAME:megalencephaly_polydactyly_syndrome Megalencephaly-polydactyly syndrome Supplemental_disease_name DISEASE_NAME:megalencephaly_polydactyly_syndrome_feingold_syndrome_type_1 Megalencephaly-polydactyly syndrome;Feingold syndrome type 1 Supplemental_disease_name DISEASE_NAME:megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Supplemental_disease_name DISEASE_NAME:megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome_1 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Supplemental_disease_name DISEASE_NAME:megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome_2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Supplemental_disease_name DISEASE_NAME:megalencephaly_polymicrogyria_polydactyly_hydrocephalus_syndrome_3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Supplemental_disease_name DISEASE_NAME:megalencephaly_polymicrogyria_postaxial_polydactyly_hydrocephalus_syndrome Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Supplemental_disease_name DISEASE_NAME:megalencephaly_with_thick_corpus_callosum_cerebellar_atrophy_and_intellectual_disability Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability Supplemental_disease_name DISEASE_NAME:megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency Megaloblastic anemia due to dihydrofolate reductase deficiency Supplemental_disease_name DISEASE_NAME:megaloblastic_anemia_folate_responsive Megaloblastic anemia, folate-responsive Supplemental_disease_name DISEASE_NAME:megaloblastic_anemia_thiamine_responsive_with_diabetes_mellitus_and_sensorineural_deafness Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Supplemental_disease_name DISEASE_NAME:megf10_related_disorder MEGF10-related disorder Supplemental_disease_name DISEASE_NAME:megf10_related_myopathy MEGF10-related myopathy Supplemental_disease_name DISEASE_NAME:megf10_related_myopathy_congenital_myopathy_10b_mild_variant MEGF10-related myopathy;Congenital myopathy 10b, mild variant Supplemental_disease_name DISEASE_NAME:megf8_related_carpenter_syndrome MEGF8-related Carpenter syndrome Supplemental_disease_name DISEASE_NAME:megf8_related_disorder MEGF8-related disorder Supplemental_disease_name DISEASE_NAME:mei1_related_disorder MEI1-related disorder Supplemental_disease_name DISEASE_NAME:meiob_related_disorder MEIOB-related disorder Supplemental_disease_name DISEASE_NAME:meis1_related_disorder MEIS1-related disorder Supplemental_disease_name DISEASE_NAME:meis2_related_disorder MEIS2-related disorder Supplemental_disease_name DISEASE_NAME:melanesian_blond_hair MELANESIAN BLOND HAIR Supplemental_disease_name DISEASE_NAME:melanesian_blond_hair_oculocutaneous_albinism_type_3 MELANESIAN BLOND HAIR;Oculocutaneous albinism type 3 Supplemental_disease_name DISEASE_NAME:melanocytic_nevus_syndrome Melanocytic nevus syndrome Supplemental_disease_name DISEASE_NAME:melanoma_and_neural_system_tumor_syndrome_melanoma_cutaneous_malignant_susceptibility_to_2_melanoma_pancreatic_cancer_syndrome Melanoma and neural system tumor syndrome;Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma-pancreatic cancer syndrome Supplemental_disease_name DISEASE_NAME:melanoma_and_neural_system_tumor_syndrome_melanoma_pancreatic_cancer_syndrome Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome Supplemental_disease_name DISEASE_NAME:melanoma_and_neural_system_tumor_syndrome_melanoma_pancreatic_cancer_syndrome_melanoma_cutaneous_malignant_susceptibility_to_2 Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1 Melanoma, cutaneous malignant, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1_carcinoma_of_pancreas_peutz_jeghers_syndrome_germ_cell_tumor_of_testis Melanoma, cutaneous malignant, susceptibility to, 1;Carcinoma of pancreas;Peutz-Jeghers syndrome;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1_familial_pancreatic_carcinoma_germ_cell_tumor_of_testis_peutz_jeghers_syndrome Melanoma, cutaneous malignant, susceptibility to, 1;Familial pancreatic carcinoma;Germ cell tumor of testis;Peutz-Jeghers syndrome Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1_germ_cell_tumor_of_testis_carcinoma_of_pancreas_peutz_jeghers_syndrome Melanoma, cutaneous malignant, susceptibility to, 1;Germ cell tumor of testis;Carcinoma of pancreas;Peutz-Jeghers syndrome Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1_germ_cell_tumor_of_testis_familial_pancreatic_carcinoma_peutz_jeghers_syndrome Melanoma, cutaneous malignant, susceptibility to, 1;Germ cell tumor of testis;Familial pancreatic carcinoma;Peutz-Jeghers syndrome Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1_germ_cell_tumor_of_testis_peutz_jeghers_syndrome_carcinoma_of_pancreas Melanoma, cutaneous malignant, susceptibility to, 1;Germ cell tumor of testis;Peutz-Jeghers syndrome;Carcinoma of pancreas Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1_germ_cell_tumor_of_testis_peutz_jeghers_syndrome_familial_pancreatic_carcinoma Melanoma, cutaneous malignant, susceptibility to, 1;Germ cell tumor of testis;Peutz-Jeghers syndrome;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1_glioma_susceptibility_1 Melanoma, cutaneous malignant, susceptibility to, 1;Glioma susceptibility 1 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1_peutz_jeghers_syndrome_familial_pancreatic_carcinoma_germ_cell_tumor_of_testis Melanoma, cutaneous malignant, susceptibility to, 1;Peutz-Jeghers syndrome;Familial pancreatic carcinoma;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_1_peutz_jeghers_syndrome_germ_cell_tumor_of_testis_familial_pancreatic_carcinoma Melanoma, cutaneous malignant, susceptibility to, 1;Peutz-Jeghers syndrome;Germ cell tumor of testis;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_2 Melanoma, cutaneous malignant, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_2_melanoma_and_neural_system_tumor_syndrome_melanoma_pancreatic_cancer_syndrome Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_3 Melanoma, cutaneous malignant, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_5 Melanoma, cutaneous malignant, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_5_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_skin_hair_eye_pigmentation_variation_in_2_tyrosinase_positive_oculocutaneous_albinism Melanoma, cutaneous malignant, susceptibility to, 5;Increased analgesia from kappa-opioid receptor agonist, female-specific;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Tyrosinase-positive oculocutaneous albinism Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_5_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_tyrosinase_positive_oculocutaneous_albinism_skin_hair_eye_pigmentation_variation_in_2 Melanoma, cutaneous malignant, susceptibility to, 5;Increased analgesia from kappa-opioid receptor agonist, female-specific;Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_5_tyrosinase_positive_oculocutaneous_albinism_skin_hair_eye_pigmentation_variation_in_2_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific Melanoma, cutaneous malignant, susceptibility to, 5;Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Increased analgesia from kappa-opioid receptor agonist, female-specific Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_6 Melanoma, cutaneous malignant, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_8 Melanoma, cutaneous malignant, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_8_coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness_tietz_syndrome_waardenburg_syndrome_type_2a Melanoma, cutaneous malignant, susceptibility to, 8;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Tietz syndrome;Waardenburg syndrome type 2A Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_8_coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness_waardenburg_syndrome_type_2a_tietz_syndrome Melanoma, cutaneous malignant, susceptibility to, 8;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Waardenburg syndrome type 2A;Tietz syndrome Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_8_tietz_syndrome_waardenburg_syndrome_type_2a Melanoma, cutaneous malignant, susceptibility to, 8;Tietz syndrome;Waardenburg syndrome type 2A Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_8_tietz_syndrome_waardenburg_syndrome_type_2a_coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness Melanoma, cutaneous malignant, susceptibility to, 8;Tietz syndrome;Waardenburg syndrome type 2A;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_8_waardenburg_syndrome_type_2a Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome type 2A Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_8_waardenburg_syndrome_type_2a_tietz_syndrome Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome type 2A;Tietz syndrome Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_9 Melanoma, cutaneous malignant, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_9_acute_myeloid_leukemia_dyskeratosis_congenita_autosomal_dominant_2_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1 Melanoma, cutaneous malignant, susceptibility to, 9;Acute myeloid leukemia;Dyskeratosis congenita, autosomal dominant 2;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_9_acute_myeloid_leukemia_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_dyskeratosis_congenita_autosomal_dominant_2 Melanoma, cutaneous malignant, susceptibility to, 9;Acute myeloid leukemia;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_9_dyskeratosis_congenita_autosomal_dominant_2_acute_myeloid_leukemia_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1 Melanoma, cutaneous malignant, susceptibility to, 9;Dyskeratosis congenita, autosomal dominant 2;Acute myeloid leukemia;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_9_dyskeratosis_congenita_autosomal_dominant_2_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_acute_myeloid_leukemia Melanoma, cutaneous malignant, susceptibility to, 9;Dyskeratosis congenita, autosomal dominant 2;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_9_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_acute_myeloid_leukemia_dyskeratosis_congenita_autosomal_dominant_2 Melanoma, cutaneous malignant, susceptibility to, 9;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Acute myeloid leukemia;Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:melanoma_cutaneous_malignant_susceptibility_to_9_pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_dyskeratosis_congenita_autosomal_dominant_2_acute_myeloid_leukemia Melanoma, cutaneous malignant, susceptibility to, 9;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Dyskeratosis congenita, autosomal dominant 2;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:melanoma_pancreatic_cancer_syndrome Melanoma-pancreatic cancer syndrome Supplemental_disease_name DISEASE_NAME:melanoma_pancreatic_cancer_syndrome_melanoma_and_neural_system_tumor_syndrome Melanoma-pancreatic cancer syndrome;Melanoma and neural system tumor syndrome Supplemental_disease_name DISEASE_NAME:melanoma_pancreatic_cancer_syndrome_melanoma_and_neural_system_tumor_syndrome_melanoma_cutaneous_malignant_susceptibility_to_2 Melanoma-pancreatic cancer syndrome;Melanoma and neural system tumor syndrome;Melanoma, cutaneous malignant, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:melanoma_pancreatic_cancer_syndrome_melanoma_cutaneous_malignant_susceptibility_to_2_melanoma_and_neural_system_tumor_syndrome Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome Supplemental_disease_name DISEASE_NAME:melanoma_uveal_susceptibility_to_1 Melanoma, uveal, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:melanoma_uveal_susceptibility_to_1_tumor_predisposition_syndrome_2 Melanoma, uveal, susceptibility to, 1;Tumor predisposition syndrome 2 Supplemental_disease_name DISEASE_NAME:melanoma_uveal_susceptibility_to_2 Melanoma, uveal, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:melanoma_uveal_susceptibility_to_2_bap1_related_tumor_predisposition_syndrome_kury_isidor_syndrome Melanoma, uveal, susceptibility to, 2;BAP1-related tumor predisposition syndrome;Kury-Isidor syndrome Supplemental_disease_name DISEASE_NAME:melanoma_uveal_susceptibility_to_2_kury_isidor_syndrome_bap1_related_tumor_predisposition_syndrome Melanoma, uveal, susceptibility to, 2;Kury-Isidor syndrome;BAP1-related tumor predisposition syndrome Supplemental_disease_name DISEASE_NAME:melas_syndrome_leigh_syndrome_mitochondrial MELAS syndrome;Leigh syndrome, mitochondrial Supplemental_disease_name DISEASE_NAME:melas_syndrome_merrf_syndrome MELAS syndrome;MERRF syndrome Supplemental_disease_name DISEASE_NAME:melioidosis_resistance_to Melioidosis, resistance to Supplemental_disease_name DISEASE_NAME:melnick_needles_syndrome_frontometaphyseal_dysplasia_1_heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_ii Melnick-Needles syndrome;Frontometaphyseal dysplasia 1;Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II Supplemental_disease_name DISEASE_NAME:melnick_needles_syndrome_frontometaphyseal_dysplasia_heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_ii Melnick-Needles syndrome;Frontometaphyseal dysplasia;Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II Supplemental_disease_name DISEASE_NAME:melnick_needles_syndrome_frontometaphyseal_dysplasia_oto_palato_digital_syndrome_type_ii_heterotopia_periventricular_x_linked_dominant Melnick-Needles syndrome;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant Supplemental_disease_name DISEASE_NAME:melnick_needles_syndrome_heterotopia_periventricular_x_linked_dominant_frontometaphyseal_dysplasia_oto_palato_digital_syndrome_type_ii Melnick-Needles syndrome;Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II Supplemental_disease_name DISEASE_NAME:melnick_needles_syndrome_heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_ii_frontometaphyseal_dysplasia Melnick-Needles syndrome;Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:melnick_needles_syndrome_oto_palato_digital_syndrome_type_ii_frontometaphyseal_dysplasia_1_heterotopia_periventricular_x_linked_dominant Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia 1;Heterotopia, periventricular, X-linked dominant Supplemental_disease_name DISEASE_NAME:melnick_needles_syndrome_oto_palato_digital_syndrome_type_ii_heterotopia_periventricular_x_linked_dominant_frontometaphyseal_dysplasia Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:melorheostosis_cardiofaciocutaneous_syndrome_3 Melorheostosis;Cardiofaciocutaneous syndrome 3 Supplemental_disease_name DISEASE_NAME:melorheostosis_cardiofaciocutaneous_syndrome_3_noonan_syndrome_1 Melorheostosis;Cardiofaciocutaneous syndrome 3;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:melorheostosis_noonan_syndrome_1_cardiofaciocutaneous_syndrome_3 Melorheostosis;Noonan syndrome 1;Cardiofaciocutaneous syndrome 3 Supplemental_disease_name DISEASE_NAME:melorheostosis_with_osteopoikilosis Melorheostosis with osteopoikilosis Supplemental_disease_name DISEASE_NAME:memory_impairment_seizure_spastic_paraplegia_gait_ataxia Memory impairment;Seizure;Spastic paraplegia;Gait ataxia Supplemental_disease_name DISEASE_NAME:memory_impairment_susceptibility_to Memory impairment, susceptibility to Supplemental_disease_name DISEASE_NAME:memory_quantitative_trait_locus Memory quantitative trait locus Supplemental_disease_name DISEASE_NAME:men1_related_disorder MEN1-related disorder Supplemental_disease_name DISEASE_NAME:men2_phenotype_unclassified MEN2 phenotype: Unclassified Supplemental_disease_name DISEASE_NAME:mend_syndrome_chondrodysplasia_punctata_2_x_linked_dominant MEND syndrome;Chondrodysplasia punctata 2 X-linked dominant Supplemental_disease_name DISEASE_NAME:mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_irf8_deficiency_immunodeficiency_32b Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency;Immunodeficiency 32B Supplemental_disease_name DISEASE_NAME:mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_stat1_deficiency_autoimmune_enteropathy_and_endocrinopathy_susceptibility_to_chronic_infections_syndrome_immunodeficiency_31b Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency;Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome;Immunodeficiency 31B Supplemental_disease_name DISEASE_NAME:mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_stat1_deficiency_immunodeficiency_31b_autoimmune_enteropathy_and_endocrinopathy_susceptibility_to_chronic_infections_syndrome Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency;Immunodeficiency 31B;Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Supplemental_disease_name DISEASE_NAME:mendelian_syndromes_with_cleft_lip_palate Mendelian syndromes with cleft lip/palate Supplemental_disease_name DISEASE_NAME:menke_hennekam_syndrome Menke-Hennekam syndrome Supplemental_disease_name DISEASE_NAME:menke_hennekam_syndrome_1 Menke-Hennekam syndrome 1 Supplemental_disease_name DISEASE_NAME:menke_hennekam_syndrome_1_rubinstein_taybi_syndrome_due_to_crebbp_mutations Menke-Hennekam syndrome 1;Rubinstein-Taybi syndrome due to CREBBP mutations Supplemental_disease_name DISEASE_NAME:menke_hennekam_syndrome_2 Menke-Hennekam syndrome 2 Supplemental_disease_name DISEASE_NAME:menke_hennekam_syndrome_2_colorectal_cancer_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Menke-Hennekam syndrome 2;Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:menke_hennekam_syndrome_2_rubinstein_taybi_syndrome_due_to_crebbp_mutations_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_colorectal_cancer Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer Supplemental_disease_name DISEASE_NAME:menke_hennekam_syndrome_2_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:menkes_disease_copper_replacement_responsive Menkes disease, copper-replacement responsive Supplemental_disease_name DISEASE_NAME:menkes_disease_mild Menkes disease, mild Supplemental_disease_name DISEASE_NAME:menkes_kinky_hair_syndrome_cutis_laxa_x_linked_x_linked_distal_spinal_muscular_atrophy_type_3 Menkes kinky-hair syndrome;Cutis laxa, X-linked;X-linked distal spinal muscular atrophy type 3 Supplemental_disease_name DISEASE_NAME:menkes_kinky_hair_syndrome_x_linked_distal_spinal_muscular_atrophy_type_3_cutis_laxa_x_linked Menkes kinky-hair syndrome;X-linked distal spinal muscular atrophy type 3;Cutis laxa, X-linked Supplemental_disease_name DISEASE_NAME:menstrual_cycle_dependent_periodic_fever Menstrual cycle-dependent periodic fever Supplemental_disease_name DISEASE_NAME:mental_deterioration_dementia Mental deterioration;Dementia Supplemental_disease_name DISEASE_NAME:mental_deterioration_lower_limb_spasticity_bilateral_tonic_clonic_seizure_global_developmental_delay_delayed_speech_and_language_development Mental deterioration;Lower limb spasticity;Bilateral tonic-clonic seizure;Global developmental delay;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:mental_disorder Mental disorder Supplemental_disease_name DISEASE_NAME:meox1_related_disorder MEOX1-related disorder Supplemental_disease_name DISEASE_NAME:mepe_related_disorder MEPE-related disorder Supplemental_disease_name DISEASE_NAME:mephenytoin_poor_metabolism_of MEPHENYTOIN, POOR METABOLISM OF Supplemental_disease_name DISEASE_NAME:mercaptopurine_response_dosage mercaptopurine response - Dosage Supplemental_disease_name DISEASE_NAME:meretoja_syndrome Meretoja syndrome Supplemental_disease_name DISEASE_NAME:merff_syndrome MERFF syndrome Supplemental_disease_name DISEASE_NAME:merosin_deficient_congenital_muscular_dystrophy Merosin deficient congenital muscular dystrophy Supplemental_disease_name DISEASE_NAME:merosin_deficient_congenital_muscular_dystrophy_muscular_dystrophy_limb_girdle_autosomal_recessive_23 Merosin deficient congenital muscular dystrophy;Muscular dystrophy, limb-girdle, autosomal recessive 23 Supplemental_disease_name DISEASE_NAME:merrf_melas_overlap_syndrome MERRF/MELAS overlap syndrome Supplemental_disease_name DISEASE_NAME:mertk_related_disorder MERTK-related disorder Supplemental_disease_name DISEASE_NAME:mesangiocapillary_glomerulonephritis Mesangiocapillary glomerulonephritis Supplemental_disease_name DISEASE_NAME:mesangiocapillary_glomerulonephritis_atypical_hemolytic_uremic_syndrome Mesangiocapillary glomerulonephritis;Atypical hemolytic-uremic syndrome Supplemental_disease_name DISEASE_NAME:mesangiocapillary_glomerulonephritis_immunoglobulin_mediated_membranoproliferative_glomerulonephritis Mesangiocapillary glomerulonephritis;Immunoglobulin-mediated membranoproliferative glomerulonephritis Supplemental_disease_name DISEASE_NAME:mesd_related_disorder MESD-related disorder Supplemental_disease_name DISEASE_NAME:mesoaxial_synostotic_syndactyly_with_phalangeal_reduction Mesoaxial synostotic syndactyly with phalangeal reduction Supplemental_disease_name DISEASE_NAME:mesomelic_dysplasia_with_urogenital_abnormalities Mesomelic dysplasia with urogenital abnormalities Supplemental_disease_name DISEASE_NAME:mesothelioma Mesothelioma Supplemental_disease_name DISEASE_NAME:mesothelioma_malignant_immunodeficiency_37_germ_cell_tumor_of_testis_lymphoma_non_hodgkin_familial_mucosa_associated_lymphoma Mesothelioma, malignant;Immunodeficiency 37;Germ cell tumor of testis;Lymphoma, non-Hodgkin, familial;Mucosa-associated lymphoma Supplemental_disease_name DISEASE_NAME:mesp1_related_disorder MESP1-related disorder Supplemental_disease_name DISEASE_NAME:mesp2_related_disorder MESP2-related disorder Supplemental_disease_name DISEASE_NAME:met_related_disorder MET-related disorder Supplemental_disease_name DISEASE_NAME:metabolic_acidosis_renal_tubular_acidosis_rickets Metabolic acidosis;Renal tubular acidosis;Rickets Supplemental_disease_name DISEASE_NAME:metabolic_crises Metabolic crises Supplemental_disease_name DISEASE_NAME:metabolic_crises_recurrent_with_variable_encephalomyopathic_features_and_neurologic_regression Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression Supplemental_disease_name DISEASE_NAME:metabolic_crises_with_rhabdomyolysis_cardiac_arrhythmias_and_neurodegeneration Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration Supplemental_disease_name DISEASE_NAME:metabolic_myopathy Metabolic myopathy Supplemental_disease_name DISEASE_NAME:metabolic_myopathy_due_to_lactate_transporter_defect Metabolic myopathy due to lactate transporter defect Supplemental_disease_name DISEASE_NAME:metabolic_myopathy_due_to_lactate_transporter_defect_exercise_induced_hyperinsulinism_ketoacidosis_due_to_monocarboxylate_transporter_1_deficiency Metabolic myopathy due to lactate transporter defect;Exercise-induced hyperinsulinism;Ketoacidosis due to monocarboxylate transporter-1 deficiency Supplemental_disease_name DISEASE_NAME:metabolic_syndrome_disease Metabolic syndrome/disease Supplemental_disease_name DISEASE_NAME:metabolic_syndrome_protection_against METABOLIC SYNDROME, PROTECTION AGAINST Supplemental_disease_name DISEASE_NAME:metabolic_syndrome_susceptibility_to Metabolic syndrome, susceptibility to Supplemental_disease_name DISEASE_NAME:metabolic_syndrome_x_abetalipoproteinaemia Metabolic syndrome X;Abetalipoproteinaemia Supplemental_disease_name DISEASE_NAME:metachondromatosis_juvenile_myelomonocytic_leukemia_leopard_syndrome_1_noonan_syndrome_1 Metachondromatosis;Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:metachondromatosis_juvenile_myelomonocytic_leukemia_noonan_syndrome_1_leopard_syndrome_1 Metachondromatosis;Juvenile myelomonocytic leukemia;Noonan syndrome 1;LEOPARD syndrome 1 Supplemental_disease_name DISEASE_NAME:metachondromatosis_leopard_syndrome_1_noonan_syndrome_1 Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome 1 Supplemental_disease_name DISEASE_NAME:metachondromatosis_leopard_syndrome_1_noonan_syndrome_1_juvenile_myelomonocytic_leukemia Metachondromatosis;LEOPARD syndrome 1;Noonan syndrome 1;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:metachondromatosis_noonan_syndrome_1_juvenile_myelomonocytic_leukemia_leopard_syndrome_1 Metachondromatosis;Noonan syndrome 1;Juvenile myelomonocytic leukemia;LEOPARD syndrome 1 Supplemental_disease_name DISEASE_NAME:metachondromatosis_noonan_syndrome_1_leopard_syndrome_1_juvenile_myelomonocytic_leukemia Metachondromatosis;Noonan syndrome 1;LEOPARD syndrome 1;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:metachromatic_leukodystrophy_adult_type Metachromatic leukodystrophy, adult type Supplemental_disease_name DISEASE_NAME:metachromatic_leukodystrophy_juvenile_type Metachromatic leukodystrophy, juvenile type Supplemental_disease_name DISEASE_NAME:metachromatic_leukodystrophy_late_infantile_form Metachromatic leukodystrophy, late infantile form Supplemental_disease_name DISEASE_NAME:metachromatic_leukodystrophy_late_onset METACHROMATIC LEUKODYSTROPHY, LATE-ONSET Supplemental_disease_name DISEASE_NAME:metachromatic_leukodystrophy_mild METACHROMATIC LEUKODYSTROPHY, MILD Supplemental_disease_name DISEASE_NAME:metachromatic_leukodystrophy_severe METACHROMATIC LEUKODYSTROPHY, SEVERE Supplemental_disease_name DISEASE_NAME:metaphyseal_acroscyphodysplasia Metaphyseal acroscyphodysplasia Supplemental_disease_name DISEASE_NAME:metaphyseal_anadysplasia Metaphyseal anadysplasia Supplemental_disease_name DISEASE_NAME:metaphyseal_anadysplasia_1_autosomal_dominant Metaphyseal anadysplasia 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:metaphyseal_anadysplasia_2 Metaphyseal anadysplasia 2 Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia Metaphyseal chondrodysplasia Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_jansen_type Metaphyseal chondrodysplasia, Jansen type Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_jansen_type_eiken_syndrome Metaphyseal chondrodysplasia, Jansen type;Eiken syndrome Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_jansen_type_eiken_syndrome_primary_failure_of_tooth_eruption_chondrodysplasia_blomstrand_type Metaphyseal chondrodysplasia, Jansen type;Eiken syndrome;Primary failure of tooth eruption;Chondrodysplasia Blomstrand type Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_jansen_type_primary_failure_of_tooth_eruption_chondrodysplasia_blomstrand_type_eiken_syndrome Metaphyseal chondrodysplasia, Jansen type;Primary failure of tooth eruption;Chondrodysplasia Blomstrand type;Eiken syndrome Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_jansen_type_primary_failure_of_tooth_eruption_eiken_syndrome_chondrodysplasia_blomstrand_type Metaphyseal chondrodysplasia, Jansen type;Primary failure of tooth eruption;Eiken syndrome;Chondrodysplasia Blomstrand type Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_mckusick_type_anauxetic_dysplasia_1_metaphyseal_dysplasia_without_hypotrichosis Metaphyseal chondrodysplasia, McKusick type;Anauxetic dysplasia 1;Metaphyseal dysplasia without hypotrichosis Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_mckusick_type_metaphyseal_dysplasia_without_hypotrichosis Metaphyseal chondrodysplasia, McKusick type;Metaphyseal dysplasia without hypotrichosis Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_mckusick_type_metaphyseal_dysplasia_without_hypotrichosis_anauxetic_dysplasia_1 Metaphyseal chondrodysplasia, McKusick type;Metaphyseal dysplasia without hypotrichosis;Anauxetic dysplasia 1 Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_retinitis_pigmentosa_syndrome Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_schmid_type Metaphyseal chondrodysplasia, Schmid type Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_spahr_type Metaphyseal chondrodysplasia, Spahr type Supplemental_disease_name DISEASE_NAME:metaphyseal_chondrodysplasia_spahr_type_spondyloepimetaphyseal_dysplasia_missouri_type Metaphyseal chondrodysplasia, Spahr type;Spondyloepimetaphyseal dysplasia, Missouri type Supplemental_disease_name DISEASE_NAME:metaphyseal_chondromatosis Metaphyseal chondromatosis Supplemental_disease_name DISEASE_NAME:metaphyseal_chondromatosis_with_d_2_hydroxyglutaric_aciduria Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Supplemental_disease_name DISEASE_NAME:metaphyseal_dysplasia_maxillary_hypoplasia_brachydacty_syndrome Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Supplemental_disease_name DISEASE_NAME:metaphyseal_dysplasia_maxillary_hypoplasia_brachydacty_syndrome_cleidocranial_dysostosis Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome;Cleidocranial dysostosis Supplemental_disease_name DISEASE_NAME:metaphyseal_dysplasia_without_hypotrichosis Metaphyseal dysplasia without hypotrichosis Supplemental_disease_name DISEASE_NAME:metaphyseal_dysplasia_without_hypotrichosis_anauxetic_dysplasia_1_metaphyseal_chondrodysplasia_mckusick_type Metaphyseal dysplasia without hypotrichosis;Anauxetic dysplasia 1;Metaphyseal chondrodysplasia, McKusick type Supplemental_disease_name DISEASE_NAME:metaphyseal_dysplasia_without_hypotrichosis_metaphyseal_chondrodysplasia_mckusick_type Metaphyseal dysplasia without hypotrichosis;Metaphyseal chondrodysplasia, McKusick type Supplemental_disease_name DISEASE_NAME:metaphyseal_dysplasia_without_hypotrichosis_metaphyseal_chondrodysplasia_mckusick_type_anauxetic_dysplasia_1 Metaphyseal dysplasia without hypotrichosis;Metaphyseal chondrodysplasia, McKusick type;Anauxetic dysplasia 1 Supplemental_disease_name DISEASE_NAME:metastatic_melanoma Metastatic melanoma Supplemental_disease_name DISEASE_NAME:metastatic_prostate_small_cell_carcinoma Metastatic Prostate Small Cell Carcinoma Supplemental_disease_name DISEASE_NAME:metastatic_prostate_small_cell_carcinoma_prostate_cancer Metastatic Prostate Small Cell Carcinoma;Prostate cancer Supplemental_disease_name DISEASE_NAME:methamphetamine_use_disorder methamphetamine use disorder Supplemental_disease_name DISEASE_NAME:methemoglobinemia_alpha_type Methemoglobinemia, alpha type Supplemental_disease_name DISEASE_NAME:methemoglobinemia_beta_type METHEMOGLOBINEMIA, BETA TYPE Supplemental_disease_name DISEASE_NAME:methemoglobinemia_type_4 Methemoglobinemia type 4 Supplemental_disease_name DISEASE_NAME:methemoglobinemia_type_i METHEMOGLOBINEMIA, TYPE I Supplemental_disease_name DISEASE_NAME:methemoglobinemia_type_ii METHEMOGLOBINEMIA, TYPE II Supplemental_disease_name DISEASE_NAME:methotrexate_response Methotrexate response Supplemental_disease_name DISEASE_NAME:methotrexate_response_efficacy methotrexate response - Efficacy Supplemental_disease_name DISEASE_NAME:methotrexate_response_toxicity methotrexate response - Toxicity Supplemental_disease_name DISEASE_NAME:methoxyflurane_response_toxicity methoxyflurane response - Toxicity Supplemental_disease_name DISEASE_NAME:methylcobalamin_deficiency_type_cble Methylcobalamin deficiency type cblE Supplemental_disease_name DISEASE_NAME:methylcobalamin_deficiency_type_cble_neural_tube_defects_folate_sensitive Methylcobalamin deficiency type cblE;Neural tube defects, folate-sensitive Supplemental_disease_name DISEASE_NAME:methylcobalamin_deficiency_type_cblg Methylcobalamin deficiency type cblG Supplemental_disease_name DISEASE_NAME:methylcobalamin_deficiency_type_cblg_neural_tube_defects_folate_sensitive Methylcobalamin deficiency type cblG;Neural tube defects, folate-sensitive Supplemental_disease_name DISEASE_NAME:methylcrotonyl_coa_carboxylase_deficiency Methylcrotonyl-CoA carboxylase deficiency Supplemental_disease_name DISEASE_NAME:methylmalonate_semialdehyde_dehydrogenase_deficiency Methylmalonate semialdehyde dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:methylmalonic_acidemia_due_to_methylmalonyl_coa_epimerase_deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Supplemental_disease_name DISEASE_NAME:methylmalonic_acidemia_with_homocystinuria_type_cblj Methylmalonic acidemia with homocystinuria, type cblJ Supplemental_disease_name DISEASE_NAME:methylmalonic_acidemia_with_homocystinuria_type_cblx Methylmalonic acidemia with homocystinuria, type cblX Supplemental_disease_name DISEASE_NAME:methylmalonic_aciduria_and_homocystinuria Methylmalonic aciduria and homocystinuria Supplemental_disease_name DISEASE_NAME:methylmalonic_aciduria_and_homocystinuria_cb1l_type Methylmalonic aciduria and homocystinuria, cb1L type Supplemental_disease_name DISEASE_NAME:methylmalonic_aciduria_and_homocystinuria_cblc_type_digenic METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC Supplemental_disease_name DISEASE_NAME:methylmalonic_aciduria_due_to_complete_methylmalonyl_coa_mutase_deficiency Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Supplemental_disease_name DISEASE_NAME:methylmalonic_aciduria_mut_0_type METHYLMALONIC ACIDURIA, mut(0) TYPE Supplemental_disease_name DISEASE_NAME:methylmalonic_aciduria_type_cblc Methylmalonic aciduria, type cblc Supplemental_disease_name DISEASE_NAME:mettl13_related_disorder METTL13-related disorder Supplemental_disease_name DISEASE_NAME:mettl23_related_disorder METTL23-related disorder Supplemental_disease_name DISEASE_NAME:mettl5_related_disorder METTL5-related disorder Supplemental_disease_name DISEASE_NAME:mevalonic_aciduria_hyperimmunoglobulin_d_with_periodic_fever Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever Supplemental_disease_name DISEASE_NAME:mevalonic_aciduria_hyperimmunoglobulin_d_with_periodic_fever_porokeratosis_3_disseminated_superficial_actinic_type Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever;Porokeratosis 3, disseminated superficial actinic type Supplemental_disease_name DISEASE_NAME:mevalonic_aciduria_porokeratosis_3_disseminated_superficial_actinic_type_hyperimmunoglobulin_d_with_periodic_fever Mevalonic aciduria;Porokeratosis 3, disseminated superficial actinic type;Hyperimmunoglobulin D with periodic fever Supplemental_disease_name DISEASE_NAME:mf5d8_related_disorder MF5D8-related disorder Supplemental_disease_name DISEASE_NAME:mfap5_related_disorder MFAP5-related disorder Supplemental_disease_name DISEASE_NAME:mff_related_disorder MFF-related disorder Supplemental_disease_name DISEASE_NAME:mfhas1_related_disorder MFHAS1-related disorder Supplemental_disease_name DISEASE_NAME:mfn2_related_disorder MFN2-related disorder Supplemental_disease_name DISEASE_NAME:mfrp_related_disorder MFRP-related disorder Supplemental_disease_name DISEASE_NAME:mfsd12_polymorphism MFSD12 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:mfsd2a_related_disorder MFSD2A-related disorder Supplemental_disease_name DISEASE_NAME:mfsd8_related_disorder MFSD8-related disorder Supplemental_disease_name DISEASE_NAME:mga_related_disorder MGA related disorder Supplemental_disease_name DISEASE_NAME:mgam_related_disorder MGAM-related disorder Supplemental_disease_name DISEASE_NAME:mgat2_congenital_disorder_of_glycosylation MGAT2-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:mgat2_related_disorder MGAT2-related disorder Supplemental_disease_name DISEASE_NAME:mgll_related_disorder MGLL-related disorder Supplemental_disease_name DISEASE_NAME:mgme1_related_disorder MGME1-related disorder Supplemental_disease_name DISEASE_NAME:mgp_related_disorder MGP-related disorder Supplemental_disease_name DISEASE_NAME:mhc_class_i_deficiency_1 MHC class I deficiency 1 Supplemental_disease_name DISEASE_NAME:mhc_class_i_deficiency_2 MHC class I deficiency 2 Supplemental_disease_name DISEASE_NAME:mhc_class_i_deficiency_3 MHC class I deficiency 3 Supplemental_disease_name DISEASE_NAME:mhc_class_ii_deficiency_1 MHC class II deficiency 1 Supplemental_disease_name DISEASE_NAME:mhc_class_ii_deficiency_1_rheumatoid_arthritis MHC class II deficiency 1;Rheumatoid arthritis Supplemental_disease_name DISEASE_NAME:mhc_class_ii_deficiency_2 MHC class II deficiency 2 Supplemental_disease_name DISEASE_NAME:mhc_class_ii_deficiency_3 MHC class II deficiency 3 Supplemental_disease_name DISEASE_NAME:mhc_class_ii_deficiency_3_mhc_class_ii_deficiency_5 MHC class II deficiency 3;MHC class II deficiency 5 Supplemental_disease_name DISEASE_NAME:mhc_class_ii_deficiency_4 MHC class II deficiency 4 Supplemental_disease_name DISEASE_NAME:mhc_class_ii_deficiency_5 MHC class II deficiency 5 Supplemental_disease_name DISEASE_NAME:mhc_class_ii_deficiency_5_mhc_class_ii_deficiency_3 MHC class II deficiency 5;MHC class II deficiency 3 Supplemental_disease_name DISEASE_NAME:mhc_class_ii_deficiency_rheumatoid_arthritis MHC class II deficiency;Rheumatoid arthritis Supplemental_disease_name DISEASE_NAME:mia3_related_condition MIA3-related condition Supplemental_disease_name DISEASE_NAME:mia_related_disorder MIA-related disorder Supplemental_disease_name DISEASE_NAME:miat_related_disorder MIAT-related disorder Supplemental_disease_name DISEASE_NAME:mib1_related_disorder MIB1-related disorder Supplemental_disease_name DISEASE_NAME:mical1_related_lateral_temporal_epilepsy MICAL1-related Lateral temporal epilepsy Supplemental_disease_name DISEASE_NAME:micos13_related_disorder MICOS13-related disorder Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_hemorrhage_intracerebral_susceptibility_to_retinal_arterial_tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_hemorrhage_intracerebral_susceptibility_to_retinal_arterial_tortuosity_brain_small_vessel_disease_1_with_or_without_ocular_anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Hemorrhage, intracerebral, susceptibility to;Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_brain_small_vessel_disease_1_with_or_without_ocular_anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Brain small vessel disease 1 with or without ocular anomalies;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_hemorrhage_intracerebral_susceptibility_to_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_retinal_arterial_tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_retinal_arterial_tortuosity_brain_small_vessel_disease_1_with_or_without_ocular_anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_retinal_arterial_tortuosity Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 1 with or without ocular anomalies;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Retinal arterial tortuosity Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to;Brain small vessel disease 1 with or without ocular anomalies;Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to_retinal_arterial_tortuosity_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to;Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_hemorrhage_intracerebral_susceptibility_to Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_retinal_arterial_tortuosity_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_hemorrhage_intracerebral_susceptibility_to_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Supplemental_disease_name DISEASE_NAME:microcephalic_osteodysplastic_dysplasia_saul_wilson_type_cog4_congenital_disorder_of_glycosylation Microcephalic osteodysplastic dysplasia, Saul-Wilson type;COG4-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:microcephalic_osteodysplastic_primordial_dwarfism Microcephalic osteodysplastic primordial dwarfism Supplemental_disease_name DISEASE_NAME:microcephalic_primordial_dwarfism_alazami_type Microcephalic primordial dwarfism, Alazami type Supplemental_disease_name DISEASE_NAME:microcephalic_primordial_dwarfism_due_to_rttn_deficiency Microcephalic primordial dwarfism due to RTTN deficiency Supplemental_disease_name DISEASE_NAME:microcephalic_primordial_dwarfism_due_to_znf335_deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency Supplemental_disease_name DISEASE_NAME:microcephalic_primordial_dwarfism_with_immunodeficiency Microcephalic Primordial Dwarfism with immunodeficiency Supplemental_disease_name DISEASE_NAME:microcephaly_11_primary_autosomal_recessive Microcephaly 11, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_12_primary_autosomal_recessive Microcephaly 12, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_13_primary_autosomal_recessive Microcephaly 13, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_14_primary_autosomal_recessive Microcephaly 14, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_15_primary_autosomal_recessive Microcephaly 15, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_16_primary_autosomal_recessive Microcephaly 16, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_17_primary_autosomal_recessive Microcephaly 17, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_18_primary_autosomal_dominant Microcephaly 18, primary, autosomal dominant Supplemental_disease_name DISEASE_NAME:microcephaly_19_primary_autosomal_recessive Microcephaly 19, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_1_primary_autosomal_recessive Microcephaly 1, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_20_primary_autosomal_recessive Microcephaly 20, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_20_primary_autosomal_recessive_lethal_fetal_cerebrorenogenitourinary_agenesis_hypoplasia_syndrome Microcephaly 20, primary, autosomal recessive;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_21_primary_autosomal_recessive Microcephaly 21, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_22_primary_autosomal_recessive Microcephaly 22, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_23_primary_autosomal_recessive Microcephaly 23, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_24_primary_autosomal_recessive Microcephaly 24, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_25_primary_autosomal_recessive Microcephaly 25, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_26_primary_autosomal_dominant Microcephaly 26, primary, autosomal dominant Supplemental_disease_name DISEASE_NAME:microcephaly_26_primary_autosomal_dominant_adult_onset_autosomal_dominant_demyelinating_leukodystrophy Microcephaly 26, primary, autosomal dominant;Adult-onset autosomal dominant demyelinating leukodystrophy Supplemental_disease_name DISEASE_NAME:microcephaly_27_primary_autosomal_dominant Microcephaly 27, primary, autosomal dominant Supplemental_disease_name DISEASE_NAME:microcephaly_27_primary_autosomal_dominant_lipodystrophy_partial_acquired_susceptibility_to Microcephaly 27, primary, autosomal dominant;Lipodystrophy, partial, acquired, susceptibility to Supplemental_disease_name DISEASE_NAME:microcephaly_27_primary_autosomal_dominant_lipodystrophy_partial_acquired_susceptibility_to_progressive_myoclonic_epilepsy_type_9 Microcephaly 27, primary, autosomal dominant;Lipodystrophy, partial, acquired, susceptibility to;Progressive myoclonic epilepsy type 9 Supplemental_disease_name DISEASE_NAME:microcephaly_28_primary_autosomal_recessive Microcephaly 28, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_29_primary_autosomal_recessive Microcephaly 29, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_2_primary_autosomal_recessive_with_or_without_cortical_malformations Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Supplemental_disease_name DISEASE_NAME:microcephaly_30_primary_autosomal_recessive Microcephaly 30, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_31_primary_autosomal_recessive Microcephaly 31, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_3_primary_autosomal_recessive Microcephaly 3, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_4_primary_autosomal_recessive Microcephaly 4, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_5_primary_autosomal_recessive Microcephaly 5, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_6_primary_autosomal_recessive Microcephaly 6, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_6_primary_autosomal_recessive_seckel_syndrome_4 Microcephaly 6, primary, autosomal recessive;Seckel syndrome 4 Supplemental_disease_name DISEASE_NAME:microcephaly_6_with_or_without_short_stature Microcephaly 6 with or without short stature Supplemental_disease_name DISEASE_NAME:microcephaly_7_primary_autosomal_recessive Microcephaly 7, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_8_primary_autosomal_recessive Microcephaly 8, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_9_primary_autosomal_recessive Microcephaly 9, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:microcephaly_9_primary_autosomal_recessive_seckel_syndrome_5 Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5 Supplemental_disease_name DISEASE_NAME:microcephaly_abnormality_of_metabolism_homeostasis Microcephaly;Abnormality of metabolism/homeostasis Supplemental_disease_name DISEASE_NAME:microcephaly_absent_speech_imperforate_anus_teratoma_global_developmental_delay Microcephaly;Absent speech;Imperforate anus;Teratoma;Global developmental delay Supplemental_disease_name DISEASE_NAME:microcephaly_and_chorioretinopathy_with_or_without_intellectual_disability Microcephaly and chorioretinopathy with or without intellectual disability Supplemental_disease_name DISEASE_NAME:microcephaly_atonic_seizure_status_epilepticus Microcephaly;Atonic seizure;Status epilepticus Supplemental_disease_name DISEASE_NAME:microcephaly_capillary_malformation_syndrome Microcephaly-capillary malformation syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_cataracts_impaired_intellectual_development_and_dystonia_with_abnormal_striatum Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum Supplemental_disease_name DISEASE_NAME:microcephaly_cerebral_dysmyelination_encephalopathy Microcephaly;Cerebral dysmyelination;Encephalopathy Supplemental_disease_name DISEASE_NAME:microcephaly_complex_motor_and_sensory_axonal_neuropathy_syndrome_emg_neuropathic_changes Microcephaly-complex motor and sensory axonal neuropathy syndrome;EMG: neuropathic changes Supplemental_disease_name DISEASE_NAME:microcephaly_congenital_cardiomyopathy_developmental_delay_hearing_impairment Microcephaly;Congenital cardiomyopathy;Developmental delay;Hearing impairment Supplemental_disease_name DISEASE_NAME:microcephaly_congenital_cataract_psoriasiform_dermatitis_syndrome Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_decreased_response_to_growth_hormone_stimulation_test_dysmorphic_features_global_developmental_delay_short_stature Microcephaly;Decreased response to growth hormone stimulation test;Dysmorphic features;Global developmental delay;Short stature Supplemental_disease_name DISEASE_NAME:microcephaly_deeply_set_eye_absent_or_delayed_speech_development_intellectual_disability_feeding_difficulties Microcephaly;Deeply set eye;Absent or delayed speech development;Intellectual disability;Feeding difficulties Supplemental_disease_name DISEASE_NAME:microcephaly_deeply_set_eye_absent_or_delayed_speech_development_intellectual_disability_seizure Microcephaly;Deeply set eye;Absent or delayed speech development;Intellectual disability;Seizure Supplemental_disease_name DISEASE_NAME:microcephaly_delayed_speech_and_language_development_global_developmental_delay Microcephaly;Delayed speech and language development;Global developmental delay Supplemental_disease_name DISEASE_NAME:microcephaly_developmental_cataract_microphthalmia_persistent_pupillary_membrane Microcephaly;Developmental cataract;Microphthalmia;Persistent pupillary membrane Supplemental_disease_name DISEASE_NAME:microcephaly_developmental_delay_and_brittle_hair_syndrome Microcephaly, developmental delay, and brittle hair syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_digital_anomalies_intellectual_disability_syndrome Microcephaly-digital anomalies-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_epilepsy_and_diabetes_syndrome Microcephaly, epilepsy, and diabetes syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_epilepsy_and_diabetes_syndrome_1 Microcephaly, epilepsy, and diabetes syndrome 1 Supplemental_disease_name DISEASE_NAME:microcephaly_epilepsy_and_diabetes_syndrome_2 Microcephaly, epilepsy, and diabetes syndrome 2 Supplemental_disease_name DISEASE_NAME:microcephaly_epileptic_encephalopathy Microcephaly;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:microcephaly_facial_dysmorphism_renal_agenesis_and_ambiguous_genitalia_syndrome Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_global_developmental_delay Microcephaly;Global developmental delay Supplemental_disease_name DISEASE_NAME:microcephaly_global_developmental_delay_hypotonia_infantile_spasms Microcephaly;Global developmental delay;Hypotonia;Infantile spasms Supplemental_disease_name DISEASE_NAME:microcephaly_growth_deficiency_seizures_and_brain_malformations_galloway_mowat_syndrome_6 Microcephaly, growth deficiency, seizures, and brain malformations;Galloway-Mowat syndrome 6 Supplemental_disease_name DISEASE_NAME:microcephaly_growth_restriction_and_increased_sister_chromatid_exchange_2 Microcephaly, growth restriction, and increased sister chromatid exchange 2 Supplemental_disease_name DISEASE_NAME:microcephaly_growth_restriction_and_increased_sister_chromatid_exchange_2_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_5 Microcephaly, growth restriction, and increased sister chromatid exchange 2;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 Supplemental_disease_name DISEASE_NAME:microcephaly_inability_to_walk_spasticity_motor_delay Microcephaly;Inability to walk;Spasticity;Motor delay Supplemental_disease_name DISEASE_NAME:microcephaly_intellectual_deficiency Microcephaly;intellectual deficiency Supplemental_disease_name DISEASE_NAME:microcephaly_intellectual_disability Microcephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:microcephaly_intellectual_disability_atrophy_degeneration_affecting_the_central_nervous_system_hypotonia_pectus_excavatum Microcephaly;Intellectual disability;Atrophy/Degeneration affecting the central nervous system;Hypotonia;Pectus excavatum Supplemental_disease_name DISEASE_NAME:microcephaly_intellectual_disability_epilepsy Microcephaly;Intellectual disability;Epilepsy Supplemental_disease_name DISEASE_NAME:microcephaly_intellectual_disability_lower_limb_spasticity Microcephaly;Intellectual disability;Lower limb spasticity Supplemental_disease_name DISEASE_NAME:microcephaly_intellectual_disability_seizure Microcephaly;Intellectual disability;Seizure Supplemental_disease_name DISEASE_NAME:microcephaly_intellectual_disability_sensorineural_hearing_loss_epilepsy_abnormal_muscle_tone_syndrome Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_lissencephaly Microcephaly;Lissencephaly Supplemental_disease_name DISEASE_NAME:microcephaly_micromelia_syndrome_microcephaly_short_stature_and_limb_abnormalities Microcephaly-micromelia syndrome;Microcephaly, short stature, and limb abnormalities Supplemental_disease_name DISEASE_NAME:microcephaly_mild_intellectual_disability_short_stature Microcephaly;Mild intellectual disability;Short stature Supplemental_disease_name DISEASE_NAME:microcephaly_neurodevelopmental_delay_seizure Microcephaly;Neurodevelopmental delay;Seizure Supplemental_disease_name DISEASE_NAME:microcephaly_normal_intelligence_and_immunodeficiency_acute_lymphoid_leukemia_aplastic_anemia Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;Aplastic anemia Supplemental_disease_name DISEASE_NAME:microcephaly_normal_intelligence_and_immunodeficiency_aplastic_anemia_acute_lymphoid_leukemia Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia;Acute lymphoid leukemia Supplemental_disease_name DISEASE_NAME:microcephaly_normal_intelligence_and_immunodeficiency_breast_cancer_susceptibility_to Microcephaly, normal intelligence and immunodeficiency;Breast cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:microcephaly_normal_intelligence_and_immunodeficiency_malignant_tumor_of_breast Microcephaly, normal intelligence and immunodeficiency;Malignant tumor of breast Supplemental_disease_name DISEASE_NAME:microcephaly_polymicrogyria_corpus_callosum_agenesis_syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_polymicrogyria_global_developmental_delay Microcephaly;Polymicrogyria;Global developmental delay Supplemental_disease_name DISEASE_NAME:microcephaly_progressive_with_simplified_gyral_pattern_and_cerebellar_hypoplasia Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:microcephaly_renal_tubular_dysfunction_bilateral_sensorineural_hearing_impairment_spastic_diplegia_cerebellar_ataxia Microcephaly;Renal tubular dysfunction;Bilateral sensorineural hearing impairment;Spastic diplegia;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:microcephaly_seizure_spasticity_severe_global_developmental_delay Microcephaly;Seizure;Spasticity;Severe global developmental delay Supplemental_disease_name DISEASE_NAME:microcephaly_seizures_and_developmental_delay_ataxia_oculomotor_apraxia_type_4 Microcephaly, seizures, and developmental delay;Ataxia - oculomotor apraxia type 4 Supplemental_disease_name DISEASE_NAME:microcephaly_seizures_and_developmental_delay_ataxia_oculomotor_apraxia_type_4_charcot_marie_tooth_disease_type_2b2 Microcephaly, seizures, and developmental delay;Ataxia - oculomotor apraxia type 4;Charcot-Marie-Tooth disease type 2B2 Supplemental_disease_name DISEASE_NAME:microcephaly_seizures_and_developmental_delay_charcot_marie_tooth_disease_type_2b2_ataxia_oculomotor_apraxia_type_4 Microcephaly, seizures, and developmental delay;Charcot-Marie-Tooth disease type 2B2;Ataxia - oculomotor apraxia type 4 Supplemental_disease_name DISEASE_NAME:microcephaly_severe_dystonia_developmental_cataract_global_developmental_delay Microcephaly;Severe dystonia;Developmental cataract;Global developmental delay Supplemental_disease_name DISEASE_NAME:microcephaly_severe_global_developmental_delay_cataract Microcephaly;Severe global developmental delay;Cataract Supplemental_disease_name DISEASE_NAME:microcephaly_severe_intellectual_disability_cerebral_calcification_seizure Microcephaly;Severe intellectual disability;Cerebral calcification;Seizure Supplemental_disease_name DISEASE_NAME:microcephaly_severe_intellectual_disability_seizure Microcephaly;Severe intellectual disability;Seizure Supplemental_disease_name DISEASE_NAME:microcephaly_short_stature_and_impaired_glucose_metabolism_1 Microcephaly, short stature, and impaired glucose metabolism 1 Supplemental_disease_name DISEASE_NAME:microcephaly_short_stature_and_impaired_glucose_metabolism_2 Microcephaly, short stature, and impaired glucose metabolism 2 Supplemental_disease_name DISEASE_NAME:microcephaly_short_stature_and_limb_abnormalities_microcephaly_micromelia_syndrome Microcephaly, short stature, and limb abnormalities;Microcephaly-micromelia syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_short_stature_and_polymicrogyria_with_seizures MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES Supplemental_disease_name DISEASE_NAME:microcephaly_short_stature_high_myopia_sparse_scalp_hair_generalized_hypopigmentation Microcephaly;Short stature;High myopia;Sparse scalp hair;Generalized hypopigmentation Supplemental_disease_name DISEASE_NAME:microcephaly_spastic_paraparesis_neurodevelopmental_abnormality Microcephaly;Spastic paraparesis;Neurodevelopmental abnormality Supplemental_disease_name DISEASE_NAME:microcephaly_thin_corpus_callosum_intellectual_disability_syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:microcephaly_with_or_without_chorioretinopathy_lymphedema_or_intellectual_disability Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Supplemental_disease_name DISEASE_NAME:microcephaly_with_or_without_chorioretinopathy_lymphedema_or_intellectual_disability_exudative_vitreoretinopathy_1 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability;Exudative vitreoretinopathy 1 Supplemental_disease_name DISEASE_NAME:microcephaly_with_or_without_chorioretinopathy_lymphedema_or_intellectual_disability_mclid Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) Supplemental_disease_name DISEASE_NAME:microcornea_myopic_chorioretinal_atrophy Microcornea-myopic chorioretinal atrophy Supplemental_disease_name DISEASE_NAME:microcornea_rod_cone_dystrophy_cataract_and_posterior_staphyloma_1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 Supplemental_disease_name DISEASE_NAME:microcornea_rod_cone_dystrophy_cataract_and_posterior_staphyloma_2 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 Supplemental_disease_name DISEASE_NAME:microcytic_anemia_abnormal_facial_shape_motor_delay_intellectual_disability Microcytic anemia;Abnormal facial shape;Motor delay;Intellectual disability Supplemental_disease_name DISEASE_NAME:microcytic_anemia_with_liver_iron_overload Microcytic anemia with liver iron overload Supplemental_disease_name DISEASE_NAME:microdeletion_4p16_3p16_1 microdeletion 4p16.3p16.1 Supplemental_disease_name DISEASE_NAME:microduplication_syndrome Microduplication syndrome Supplemental_disease_name DISEASE_NAME:microform_holoprosencephaly Microform holoprosencephaly Supplemental_disease_name DISEASE_NAME:micrognathia Micrognathia Supplemental_disease_name DISEASE_NAME:micrognathia_clinodactyly_short_long_bone_short_ribs_narrow_chest Micrognathia;Clinodactyly;Short long bone;Short ribs;Narrow chest Supplemental_disease_name DISEASE_NAME:micrognathia_hypotonia_global_developmental_delay_abnormal_facial_shape Micrognathia;Hypotonia;Global developmental delay;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:micrognathia_recurrent_infections_behavioral_abnormalities_mild_intellectual_disability_syndrome Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:micrognathia_recurrent_infections_behavioral_abnormalities_mild_intellectual_disability_syndrome_intellectual_developmental_disorder_autosomal_dominant_63_with_macrocephaly Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome;Intellectual developmental disorder, autosomal dominant 63, with macrocephaly Supplemental_disease_name DISEASE_NAME:micromelia Micromelia Supplemental_disease_name DISEASE_NAME:micropenis Micropenis Supplemental_disease_name DISEASE_NAME:microphallus_bilateral_cryptorchidism Microphallus;Bilateral cryptorchidism Supplemental_disease_name DISEASE_NAME:microphthalmia_and_cataract Microphthalmia and cataract Supplemental_disease_name DISEASE_NAME:microphthalmia_cataract Microphthalmia;Cataract Supplemental_disease_name DISEASE_NAME:microphthalmia_cataracts_and_iris_abnormalities Microphthalmia, cataracts, and iris abnormalities Supplemental_disease_name DISEASE_NAME:microphthalmia_coloboma_11 Microphthalmia/coloboma 11 Supplemental_disease_name DISEASE_NAME:microphthalmia_coloboma_13 Microphthalmia/coloboma 13 Supplemental_disease_name DISEASE_NAME:microphthalmia_congenital_ocular_coloboma Microphthalmia;Congenital ocular coloboma Supplemental_disease_name DISEASE_NAME:microphthalmia_developmental_cataract Microphthalmia;Developmental cataract Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_10 Microphthalmia, isolated, with coloboma 10 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_10_progressive_retinal_dystrophy_due_to_retinol_transport_defect Microphthalmia, isolated, with coloboma 10;Progressive retinal dystrophy due to retinol transport defect Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_3 Microphthalmia, isolated, with coloboma 3 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_3_isolated_microphthalmia_2 Microphthalmia, isolated, with coloboma 3;Isolated microphthalmia 2 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_5 Microphthalmia, isolated, with coloboma 5 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_5_holoprosencephaly_3_solitary_median_maxillary_central_incisor_syndrome Microphthalmia, isolated, with coloboma 5;Holoprosencephaly 3;Solitary median maxillary central incisor syndrome Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_5_holoprosencephaly_3_solitary_median_maxillary_central_incisor_syndrome_schizencephaly Microphthalmia, isolated, with coloboma 5;Holoprosencephaly 3;Solitary median maxillary central incisor syndrome;Schizencephaly Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6 Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6_isolated_microphthalmia_4_klippel_feil_syndrome_1_autosomal_dominant_leber_congenital_amaurosis_17 Microphthalmia, isolated, with coloboma 6;Isolated microphthalmia 4;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6_isolated_microphthalmia_4_klippel_feil_syndrome_1_autosomal_dominant_multiple_synostoses_syndrome_4_leber_congenital_amaurosis_17 Microphthalmia, isolated, with coloboma 6;Isolated microphthalmia 4;Klippel-Feil syndrome 1, autosomal dominant;Multiple synostoses syndrome 4;Leber congenital amaurosis 17 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6_isolated_microphthalmia_4_leber_congenital_amaurosis_17_klippel_feil_syndrome_1_autosomal_dominant Microphthalmia, isolated, with coloboma 6;Isolated microphthalmia 4;Leber congenital amaurosis 17;Klippel-Feil syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6_klippel_feil_syndrome_1_autosomal_dominant_isolated_microphthalmia_4_leber_congenital_amaurosis_17 Microphthalmia, isolated, with coloboma 6;Klippel-Feil syndrome 1, autosomal dominant;Isolated microphthalmia 4;Leber congenital amaurosis 17 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6_klippel_feil_syndrome_1_autosomal_dominant_leber_congenital_amaurosis_17_isolated_microphthalmia_4 Microphthalmia, isolated, with coloboma 6;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17;Isolated microphthalmia 4 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6_leber_congenital_amaurosis_17_isolated_microphthalmia_4_klippel_feil_syndrome_1_autosomal_dominant Microphthalmia, isolated, with coloboma 6;Leber congenital amaurosis 17;Isolated microphthalmia 4;Klippel-Feil syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6_leber_congenital_amaurosis_17_klippel_feil_syndrome_1_autosomal_dominant_isolated_microphthalmia_4 Microphthalmia, isolated, with coloboma 6;Leber congenital amaurosis 17;Klippel-Feil syndrome 1, autosomal dominant;Isolated microphthalmia 4 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6_multiple_synostoses_syndrome_4_klippel_feil_syndrome_1_autosomal_dominant_leber_congenital_amaurosis_17_isolated_microphthalmia_4 Microphthalmia, isolated, with coloboma 6;Multiple synostoses syndrome 4;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17;Isolated microphthalmia 4 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_7 Microphthalmia, isolated, with coloboma 7 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_7_familial_pseudohyperkalemia_dyschromatosis_universalis_hereditaria_3 Microphthalmia, isolated, with coloboma 7;Familial pseudohyperkalemia;Dyschromatosis universalis hereditaria 3 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_7_langereis_blood_group_familial_pseudohyperkalemia_dyschromatosis_universalis_hereditaria_3 Microphthalmia, isolated, with coloboma 7;Langereis blood group;Familial pseudohyperkalemia;Dyschromatosis universalis hereditaria 3 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_8 Microphthalmia, isolated, with coloboma 8 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_9 Microphthalmia, isolated, with coloboma 9 Supplemental_disease_name DISEASE_NAME:microphthalmia_microcephaly_generalized_onset_seizure_global_developmental_delay Microphthalmia;Microcephaly;Generalized-onset seizure;Global developmental delay Supplemental_disease_name DISEASE_NAME:microphthalmia_sclerocornea_cornea_plana_developmental_cataract Microphthalmia;Sclerocornea;Cornea plana;Developmental cataract Supplemental_disease_name DISEASE_NAME:microphthalmia_syndromic Microphthalmia syndromic Supplemental_disease_name DISEASE_NAME:microphthalmia_syndromic_1 Microphthalmia, syndromic 1 Supplemental_disease_name DISEASE_NAME:microphthalmia_syndromic_11 Microphthalmia, syndromic 11 Supplemental_disease_name DISEASE_NAME:microphthalmia_syndromic_12 Microphthalmia, syndromic 12 Supplemental_disease_name DISEASE_NAME:microphthalmia_syndromic_15 MICROPHTHALMIA, SYNDROMIC 15 Supplemental_disease_name DISEASE_NAME:microphthalmia_syndromic_1_oculofaciocardiodental_syndrome Microphthalmia, syndromic 1;Oculofaciocardiodental syndrome Supplemental_disease_name DISEASE_NAME:microphthalmia_syndromic_1_ogden_syndrome Microphthalmia, syndromic 1;Ogden syndrome Supplemental_disease_name DISEASE_NAME:microphthalmia_with_brain_and_digit_anomalies_orofacial_cleft_11 Microphthalmia with brain and digit anomalies;Orofacial cleft 11 Supplemental_disease_name DISEASE_NAME:microprolactinoma Microprolactinoma Supplemental_disease_name DISEASE_NAME:microrna_processor_tumor_predisposition_syndrome MicroRNA processor tumor predisposition syndrome Supplemental_disease_name DISEASE_NAME:microscopic_hematuria Microscopic hematuria Supplemental_disease_name DISEASE_NAME:microscopic_hematuria_hematuria Microscopic hematuria;Hematuria Supplemental_disease_name DISEASE_NAME:microspherophakia Microspherophakia Supplemental_disease_name DISEASE_NAME:microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Supplemental_disease_name DISEASE_NAME:microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_glaucoma_3_primary_congenital_d Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Glaucoma 3, primary congenital, D Supplemental_disease_name DISEASE_NAME:microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_glaucoma_3_primary_congenital_d_weill_marchesani_syndrome_3 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3 Supplemental_disease_name DISEASE_NAME:microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_glaucoma_3_primary_congenital_d_weill_marchesani_syndrome_3_glaucoma_3_primary_infantile_b Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Glaucoma 3, primary infantile, B Supplemental_disease_name DISEASE_NAME:microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_weill_marchesani_syndrome_3 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Weill-Marchesani syndrome 3 Supplemental_disease_name DISEASE_NAME:microtia_micrognathia Microtia;Micrognathia Supplemental_disease_name DISEASE_NAME:microtia_patellar_aplasia_hypoplastic_ischiopubic_ramus_atrioventricular_canal_defect Microtia;Patellar aplasia;Hypoplastic ischiopubic ramus;Atrioventricular canal defect Supplemental_disease_name DISEASE_NAME:microtia_with_or_without_hearing_impairment MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT Supplemental_disease_name DISEASE_NAME:microtia_without_hearing_impairment MICROTIA WITHOUT HEARING IMPAIRMENT Supplemental_disease_name DISEASE_NAME:microvascular_complications_of_diabetes_susceptibility_to_1 Microvascular complications of diabetes, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:microvascular_complications_of_diabetes_susceptibility_to_2 Microvascular complications of diabetes, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:microvascular_complications_of_diabetes_susceptibility_to_3_hemorrhage_intracerebral_susceptibility_to_renal_tubular_dysgenesis_of_genetic_origin Microvascular complications of diabetes, susceptibility to, 3;Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin Supplemental_disease_name DISEASE_NAME:microvascular_complications_of_diabetes_susceptibility_to_3_renal_tubular_dysgenesis_of_genetic_origin_hemorrhage_intracerebral_susceptibility_to Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:microvascular_complications_of_diabetes_susceptibility_to_4 Microvascular complications of diabetes, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:microvascular_complications_of_diabetes_susceptibility_to_4_gastric_cancer_sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis Microvascular complications of diabetes, susceptibility to, 4;Gastric cancer;Sterile multifocal osteomyelitis with periostitis and pustulosis Supplemental_disease_name DISEASE_NAME:microvascular_complications_of_diabetes_susceptibility_to_4_sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis_gastric_cancer Microvascular complications of diabetes, susceptibility to, 4;Sterile multifocal osteomyelitis with periostitis and pustulosis;Gastric cancer Supplemental_disease_name DISEASE_NAME:microvascular_complications_of_diabetes_susceptibility_to_6 Microvascular complications of diabetes, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:micu1_related_disorder MICU1-related disorder Supplemental_disease_name DISEASE_NAME:micu2_related_disorder MICU2-related disorder Supplemental_disease_name DISEASE_NAME:mid1_related_disorder MID1-related disorder Supplemental_disease_name DISEASE_NAME:mid2_related_disorder MID2-related disorder Supplemental_disease_name DISEASE_NAME:midline_facial_cleft_pericallosal_lipoma_skin_tags Midline facial cleft;Pericallosal lipoma;Skin tags Supplemental_disease_name DISEASE_NAME:midn_related_disorder MIDN-related disorder Supplemental_disease_name DISEASE_NAME:mif_related_disorder MIF-related disorder Supplemental_disease_name DISEASE_NAME:migalastat_response Migalastat response Supplemental_disease_name DISEASE_NAME:migraine_familial_basilar Migraine, familial basilar Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1 Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_42 Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 42 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_42_episodic_ataxia_type_2_spinocerebellar_ataxia_type_6 Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_42_spinocerebellar_ataxia_type_6_episodic_ataxia_type_2 Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 42;Spinocerebellar ataxia type 6;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_52_episodic_ataxia_type_2_spinocerebellar_ataxia_type_6 Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Episodic ataxia type 2;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_52_spinocerebellar_ataxia_type_6_episodic_ataxia_type_2 Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52;Spinocerebellar ataxia type 6;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_episodic_ataxia_type_2 Migraine, familial hemiplegic, 1;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_episodic_ataxia_type_2_developmental_and_epileptic_encephalopathy_42 Migraine, familial hemiplegic, 1;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_episodic_ataxia_type_2_developmental_and_epileptic_encephalopathy_42_spinocerebellar_ataxia_type_6 Migraine, familial hemiplegic, 1;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_episodic_ataxia_type_2_spinocerebellar_ataxia_type_6 Migraine, familial hemiplegic, 1;Episodic ataxia type 2;Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_episodic_ataxia_type_2_spinocerebellar_ataxia_type_6_developmental_and_epileptic_encephalopathy_42 Migraine, familial hemiplegic, 1;Episodic ataxia type 2;Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 42 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6_developmental_and_epileptic_encephalopathy_42_episodic_ataxia_type_2 Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6_early_infantile_epileptic_encephalopathy_autosomal_dominant_episodic_ataxia_type_2 Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6_episodic_ataxia_type_2 Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_1_spinocerebellar_ataxia_type_6_episodic_ataxia_type_2_developmental_and_epileptic_encephalopathy_42 Migraine, familial hemiplegic, 1;Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_2 Migraine, familial hemiplegic, 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_2_alternating_hemiplegia_of_childhood_1 Migraine, familial hemiplegic, 2;Alternating hemiplegia of childhood 1 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_2_developmental_and_epileptic_encephalopathy_98 Migraine, familial hemiplegic, 2;Developmental and epileptic encephalopathy 98 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_2_fetal_akinesia_deformation_sequence_periodic_paralysis_alternating_hemiplegia_of_childhood_1_early_infantile_epileptic_encephalopathy_autosomal_dominant Migraine, familial hemiplegic, 2;Fetal akinesia deformation sequence;Periodic paralysis;Alternating hemiplegia of childhood 1;Early Infantile Epileptic Encephalopathy, Autosomal Dominant Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_2_fetal_akinesia_respiratory_insufficiency_microcephaly_polymicrogyria_and_dysmorphic_facies_developmental_and_epileptic_encephalopathy_98_alternating_hemiplegia_of_childhood_1 Migraine, familial hemiplegic, 2;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies;Developmental and epileptic encephalopathy 98;Alternating hemiplegia of childhood 1 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3 Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3_developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3_febrile_seizures_familial_1_generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy Migraine, familial hemiplegic, 3;Febrile seizures, familial, 1;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3_generalized_epilepsy_with_febrile_seizures_plus_type_2_developmental_and_epileptic_encephalopathy_6b_severe_myoclonic_epilepsy_in_infancy Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3_generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3_generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3_generalized_epilepsy_with_febrile_seizures_plus_type_2_severe_myoclonic_epilepsy_in_infancy_febrile_seizures_familial_1 Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;Febrile seizures, familial, 1 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3_severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2 Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3_severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2 Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3_severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2_developmental_and_epileptic_encephalopathy_6b Migraine, familial hemiplegic, 3;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B Supplemental_disease_name DISEASE_NAME:migraine_hemiplegia_primary_dilated_cardiomyopathy Migraine;Hemiplegia;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:migraine_hereditary_episodic_ataxia Migraine;Hereditary episodic ataxia Supplemental_disease_name DISEASE_NAME:migraine_resistance_to Migraine, resistance to Supplemental_disease_name DISEASE_NAME:migraine_sporadic_hemiplegic_with_progressive_cerebellar_ataxia Migraine, sporadic hemiplegic, with progressive cerebellar ataxia Supplemental_disease_name DISEASE_NAME:migraine_tension_type_headache_transient_ischemic_attack_abnormal_brain_morphology Migraine;Tension-type headache;Transient ischemic attack;Abnormal brain morphology Supplemental_disease_name DISEASE_NAME:migraine_with_aura_depression_stroke_disorder Migraine with aura;Depression;Stroke disorder Supplemental_disease_name DISEASE_NAME:migraine_with_or_without_aura_susceptibility_to Migraine with or without aura, susceptibility to Supplemental_disease_name DISEASE_NAME:migraine_with_or_without_aura_susceptibility_to_1 Migraine with or without aura, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:migraine_with_or_without_aura_susceptibility_to_13 Migraine, with or without aura, susceptibility to, 13 Supplemental_disease_name DISEASE_NAME:migraine_with_or_without_aura_susceptibility_to_1_mandibulofacial_dysostosis_with_alopecia Migraine with or without aura, susceptibility to, 1;Mandibulofacial dysostosis with alopecia Supplemental_disease_name DISEASE_NAME:mild_canavan_disease Mild Canavan disease Supplemental_disease_name DISEASE_NAME:mild_global_developmental_delay Mild global developmental delay Supplemental_disease_name DISEASE_NAME:mild_global_developmental_delay_atypical_behavior Mild global developmental delay;Atypical behavior Supplemental_disease_name DISEASE_NAME:mild_global_developmental_delay_hypotonia_congenital_vertical_talus Mild global developmental delay;Hypotonia;Congenital vertical talus Supplemental_disease_name DISEASE_NAME:mild_hemophilia_a Mild hemophilia A Supplemental_disease_name DISEASE_NAME:mild_hyperphenylalaninemia Mild hyperphenylalaninemia Supplemental_disease_name DISEASE_NAME:mild_intellectual_disability Mild intellectual disability Supplemental_disease_name DISEASE_NAME:mild_intellectual_disability_abnormal_facial_shape_scoliosis_cafe_au_lait_spot_specific_learning_disability Mild intellectual disability;Abnormal facial shape;Scoliosis;Cafe-au-lait spot;Specific learning disability Supplemental_disease_name DISEASE_NAME:mild_intellectual_disability_aplasia_hypoplasia_of_the_thumb_multiple_skeletal_anomalies_ventricular_septal_defect Mild intellectual disability;Aplasia/Hypoplasia of the thumb;Multiple skeletal anomalies;Ventricular septal defect Supplemental_disease_name DISEASE_NAME:mild_intellectual_disability_delayed_speech_and_language_development_frequent_falls_aggressive_behavior Mild intellectual disability;Delayed speech and language development;Frequent falls;Aggressive behavior Supplemental_disease_name DISEASE_NAME:mild_intellectual_disability_gait_ataxia_dysarthria Mild intellectual disability;Gait ataxia;Dysarthria Supplemental_disease_name DISEASE_NAME:mild_intellectual_disability_global_developmental_delay Mild intellectual disability;Global developmental delay Supplemental_disease_name DISEASE_NAME:mild_intellectual_disability_myoclonus_autism Mild intellectual disability;Myoclonus;Autism Supplemental_disease_name DISEASE_NAME:mild_liver_congestion_sudden_death_episodic_vomiting Mild liver congestion;Sudden death;Episodic vomiting Supplemental_disease_name DISEASE_NAME:mild_macrothrombocytopenia Mild macrothrombocytopenia Supplemental_disease_name DISEASE_NAME:mild_ndd Mild NDD Supplemental_disease_name DISEASE_NAME:mild_non_pku_hyperphenylalanemia Mild non-PKU hyperphenylalanemia Supplemental_disease_name DISEASE_NAME:mild_obesity_dolichocephaly_macrocephaly_intellectual_disability Mild obesity;Dolichocephaly;Macrocephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:mild_proteinuria_unilateral_deafness_microscopic_hematuria Mild proteinuria;Unilateral deafness;Microscopic hematuria Supplemental_disease_name DISEASE_NAME:mild_short_stature Mild short stature Supplemental_disease_name DISEASE_NAME:mild_to_moderate_ndd Mild to moderate NDD Supplemental_disease_name DISEASE_NAME:mildly_elevated_creatine_kinase_osteoporosis_limb_pain_myotonia Mildly elevated creatine kinase;Osteoporosis;Limb pain;Myotonia Supplemental_disease_name DISEASE_NAME:minar2_related_condition MINAR2-related condition Supplemental_disease_name DISEASE_NAME:mineralocorticoid_deficiency_isolated Mineralocorticoid deficiency, isolated Supplemental_disease_name DISEASE_NAME:minpp1_related_disorder MINPP1-related disorder Supplemental_disease_name DISEASE_NAME:mip_related_disorder MIP-related disorder Supplemental_disease_name DISEASE_NAME:mipep_related_disorder MIPEP-related disorder Supplemental_disease_name DISEASE_NAME:mipol1_related_disorder MIPOL1-related disorder Supplemental_disease_name DISEASE_NAME:mir145_related_multisystemic_smooth_muscle_dysfunction MIR145-related multisystemic smooth muscle dysfunction Supplemental_disease_name DISEASE_NAME:mir17hg_related_disorder MIR17HG-related disorder Supplemental_disease_name DISEASE_NAME:mir184_related_disorder MIR184-related disorder Supplemental_disease_name DISEASE_NAME:mir204_related_disorder MIR204-related disorder Supplemental_disease_name DISEASE_NAME:mir675_related_disorder MIR675-related disorder Supplemental_disease_name DISEASE_NAME:mir96_related_condition MIR96-related condition Supplemental_disease_name DISEASE_NAME:mirage_syndrome MIRAGE syndrome Supplemental_disease_name DISEASE_NAME:mirage_syndrome_monosomy_7_myelodysplasia_and_leukemia_syndrome_2_normophosphatemic_familial_tumoral_calcinosis MIRAGE syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 2;Normophosphatemic familial tumoral calcinosis Supplemental_disease_name DISEASE_NAME:mirage_syndrome_normophosphatemic_familial_tumoral_calcinosis MIRAGE syndrome;Normophosphatemic familial tumoral calcinosis Supplemental_disease_name DISEASE_NAME:mirage_syndrome_normophosphatemic_familial_tumoral_calcinosis_monosomy_7_myelodysplasia_and_leukemia_syndrome_2 MIRAGE syndrome;Normophosphatemic familial tumoral calcinosis;Monosomy 7 myelodysplasia and leukemia syndrome 2 Supplemental_disease_name DISEASE_NAME:mirror_movements Mirror movements Supplemental_disease_name DISEASE_NAME:mirror_movements_1_and_or_agenesis_of_the_corpus_callosum Mirror movements 1 and/or agenesis of the corpus callosum Supplemental_disease_name DISEASE_NAME:mirror_movements_1_malignant_tumor_of_esophagus_colorectal_cancer_gaze_palsy_familial_horizontal_with_progressive_scoliosis_2 Mirror movements 1;Malignant tumor of esophagus;Colorectal cancer;Gaze palsy, familial horizontal, with progressive scoliosis, 2 Supplemental_disease_name DISEASE_NAME:mirror_movements_1_mirror_movements_4 Mirror movements 1;Mirror movements 4 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1 Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_colorectal_cancer_hereditary_nonpolyposis_type_2 Mismatch repair cancer syndrome 1;Colorectal cancer, hereditary nonpolyposis, type 2 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_colorectal_cancer_hereditary_nonpolyposis_type_2_muir_torré_syndrome Mismatch repair cancer syndrome 1;Colorectal cancer, hereditary nonpolyposis, type 2;Muir-Torré syndrome Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_endometrial_carcinoma_lynch_syndrome_5 Mismatch repair cancer syndrome 1;Endometrial carcinoma;Lynch syndrome 5 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_lynch_syndrome Mismatch repair cancer syndrome 1;Lynch syndrome Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_lynch_syndrome_1 Mismatch repair cancer syndrome 1;Lynch syndrome 1 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_lynch_syndrome_1_muir_torré_syndrome Mismatch repair cancer syndrome 1;Lynch syndrome 1;Muir-Torré syndrome Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_lynch_syndrome_4 Mismatch repair cancer syndrome 1;Lynch syndrome 4 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_lynch_syndrome_5 Mismatch repair cancer syndrome 1;Lynch syndrome 5 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_lynch_syndrome_5_endometrial_carcinoma Mismatch repair cancer syndrome 1;Lynch syndrome 5;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_muir_torré_syndrome_colorectal_cancer_hereditary_nonpolyposis_type_2 Mismatch repair cancer syndrome 1;Muir-Torré syndrome;Colorectal cancer, hereditary nonpolyposis, type 2 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_1_muir_torré_syndrome_lynch_syndrome_1 Mismatch repair cancer syndrome 1;Muir-Torré syndrome;Lynch syndrome 1 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_2 Mismatch repair cancer syndrome 2 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_2_lynch_syndrome Mismatch repair cancer syndrome 2;Lynch syndrome Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_2_lynch_syndrome_1_muir_torré_syndrome Mismatch repair cancer syndrome 2;Lynch syndrome 1;Muir-Torré syndrome Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_2_muir_torré_syndrome_lynch_syndrome_1 Mismatch repair cancer syndrome 2;Muir-Torré syndrome;Lynch syndrome 1 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_3 Mismatch repair cancer syndrome 3 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_3_endometrial_carcinoma_lynch_syndrome_5 Mismatch repair cancer syndrome 3;Endometrial carcinoma;Lynch syndrome 5 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_3_lynch_syndrome_5 Mismatch repair cancer syndrome 3;Lynch syndrome 5 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_3_lynch_syndrome_5_endometrial_carcinoma Mismatch repair cancer syndrome 3;Lynch syndrome 5;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_4 Mismatch repair cancer syndrome 4 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_4_lynch_syndrome Mismatch repair cancer syndrome 4;Lynch syndrome Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_4_lynch_syndrome_4 Mismatch repair cancer syndrome 4;Lynch syndrome 4 Supplemental_disease_name DISEASE_NAME:missed_abortion MISSED ABORTION Supplemental_disease_name DISEASE_NAME:mitchell_syndrome_acyl_coa_oxidase_deficiency Mitchell syndrome;Acyl-CoA oxidase deficiency Supplemental_disease_name DISEASE_NAME:mitf_related_disorder MITF-related disorder Supplemental_disease_name DISEASE_NAME:mitochondrial_associated_anesthesiology_sevoflurane_hypersensitivity Mitochondrial-associated anesthesiology/sevoflurane hypersensitivity Supplemental_disease_name DISEASE_NAME:mitochondrial_cardiomyopathy_and_sudden_cardiac_failure mitochondrial cardiomyopathy and sudden cardiac failure Supplemental_disease_name DISEASE_NAME:mitochondrial_cardiomyopathy_with_or_without_skeletal_myopathy MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_1_deficiency Mitochondrial complex 1 deficiency Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_1_deficiency_nuclear_type_35 Mitochondrial complex 1 deficiency, nuclear type 35 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_2 Mitochondrial complex 2 deficiency, nuclear type 2 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_3 Mitochondrial complex 2 deficiency, nuclear type 3 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_3_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_1 Mitochondrial complex 2 deficiency, nuclear type 3;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 1 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_3_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_1_pheochromocytoma Mitochondrial complex 2 deficiency, nuclear type 3;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 1;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_3_pheochromocytoma_paraganglioma_syndrome_1_carney_stratakis_syndrome Mitochondrial complex 2 deficiency, nuclear type 3;Pheochromocytoma/paraganglioma syndrome 1;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_4 Mitochondrial complex 2 deficiency, nuclear type 4 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_4_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4_gastrointestinal_stromal_tumor Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_4_gastrointestinal_stromal_tumor_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4 Mitochondrial complex 2 deficiency, nuclear type 4;Gastrointestinal stromal tumor;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_4_gastrointestinal_stromal_tumor_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4_pheochromocytoma Mitochondrial complex 2 deficiency, nuclear type 4;Gastrointestinal stromal tumor;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_2_deficiency_nuclear_type_4_pheochromocytoma_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4_gastrointestinal_stromal_tumor Mitochondrial complex 2 deficiency, nuclear type 4;Pheochromocytoma;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_4_deficiency_nuclear_type_25 Mitochondrial complex 4 deficiency, nuclear type 25 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_5_atp_synthase_deficiency_mitochondrial_type_1 Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_5_atp_synthase_deficiency_nuclear_type_6 Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_leigh_syndrome Mitochondrial complex I deficiency;Leigh syndrome Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_mitochondrial_type_1 Mitochondrial complex I deficiency, mitochondrial type 1 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_mitochondrial_type_2 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_mitochondrial_type_3 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type Mitochondrial complex I deficiency, nuclear type Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_1 Mitochondrial complex I deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_10 Mitochondrial complex I deficiency, nuclear type 10 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_11 Mitochondrial complex I deficiency, nuclear type 11 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_12 Mitochondrial complex I deficiency, nuclear type 12 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_13 Mitochondrial complex I deficiency, nuclear type 13 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_14 Mitochondrial complex I deficiency, nuclear type 14 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_15 Mitochondrial complex I deficiency, nuclear type 15 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_16 Mitochondrial complex I deficiency, nuclear type 16 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_17 Mitochondrial complex I deficiency, nuclear type 17 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_17_fanconi_renotubular_syndrome_5 Mitochondrial complex I deficiency, nuclear type 17;Fanconi renotubular syndrome 5 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_18 Mitochondrial complex I deficiency, nuclear type 18 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_19 Mitochondrial complex I deficiency, nuclear type 19 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_1_leigh_syndrome Mitochondrial complex I deficiency, nuclear type 1;Leigh syndrome Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_1_linear_skin_defects_with_multiple_congenital_anomalies_1_linear_skin_defects_with_multiple_congenital_anomalies_3 Mitochondrial complex I deficiency, nuclear type 1;Linear skin defects with multiple congenital anomalies 1;Linear skin defects with multiple congenital anomalies 3 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_2 Mitochondrial complex I deficiency, nuclear type 2 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_21 Mitochondrial complex I deficiency, nuclear type 21 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_22 Mitochondrial complex I deficiency, nuclear type 22 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_23 Mitochondrial complex I deficiency, nuclear type 23 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_24 Mitochondrial complex I deficiency, nuclear type 24 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_25 Mitochondrial complex I deficiency, nuclear type 25 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_26 Mitochondrial complex I deficiency, nuclear type 26 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_27 Mitochondrial complex I deficiency, nuclear type 27 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_27_combined_oxidative_phosphorylation_defect_type_15 Mitochondrial complex I deficiency, nuclear type 27;Combined oxidative phosphorylation defect type 15 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_28 Mitochondrial complex I deficiency, nuclear type 28 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_29 Mitochondrial complex I deficiency, nuclear type 29 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_3 Mitochondrial complex I deficiency, nuclear type 3 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_30 Mitochondrial complex I deficiency, nuclear type 30 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_30_linear_skin_defects_with_multiple_congenital_anomalies_3 Mitochondrial complex I deficiency, nuclear type 30;Linear skin defects with multiple congenital anomalies 3 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_31 Mitochondrial complex I deficiency, nuclear type 31 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_32 Mitochondrial complex I deficiency, nuclear type 32 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_33 Mitochondrial complex I deficiency, nuclear type 33 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_34 Mitochondrial complex I deficiency, nuclear type 34 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_36 Mitochondrial complex I deficiency, nuclear type 36 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_37 Mitochondrial complex I deficiency, nuclear type 37 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_39 Mitochondrial complex I deficiency, nuclear type 39 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_4 Mitochondrial complex I deficiency, nuclear type 4 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_5 Mitochondrial complex I deficiency, nuclear type 5 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_6 Mitochondrial complex I deficiency, nuclear type 6 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_6_leber_like_hereditary_optic_neuropathy_autosomal_recessive_2 Mitochondrial complex I deficiency, nuclear type 6;Leber-like hereditary optic neuropathy, autosomal recessive 2 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_7 Mitochondrial complex I deficiency, nuclear type 7 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_8 Mitochondrial complex I deficiency, nuclear type 8 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_i_deficiency_nuclear_type_9 Mitochondrial complex I deficiency, nuclear type 9 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1 Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Neurodegeneration with ataxia and late-onset optic atrophy Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_pheochromocytoma_paraganglioma_syndrome_5 Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Neurodegeneration with ataxia and late-onset optic atrophy;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5 Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5;Neurodegeneration with ataxia and late-onset optic atrophy Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_leigh_syndrome_dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5 Mitochondrial complex II deficiency, nuclear type 1;Leigh syndrome;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_leigh_syndrome_pheochromocytoma_paraganglioma_syndrome_5_dilated_cardiomyopathy_1gg Mitochondrial complex II deficiency, nuclear type 1;Leigh syndrome;Pheochromocytoma/paraganglioma syndrome 5;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5 Mitochondrial complex II deficiency, nuclear type 1;Neurodegeneration with ataxia and late-onset optic atrophy;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_pheochromocytoma_paraganglioma_syndrome_5_dilated_cardiomyopathy_1gg Mitochondrial complex II deficiency, nuclear type 1;Neurodegeneration with ataxia and late-onset optic atrophy;Pheochromocytoma/paraganglioma syndrome 5;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5 Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5_dilated_cardiomyopathy_1gg_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5;Dilated cardiomyopathy 1GG;Neurodegeneration with ataxia and late-onset optic atrophy Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_dilated_cardiomyopathy_1gg Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5;Neurodegeneration with ataxia and late-onset optic atrophy;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iii_deficiency_nuclear_type_10 Mitochondrial complex III deficiency, nuclear type 10 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iii_deficiency_nuclear_type_11 Mitochondrial complex III deficiency, nuclear type 11 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iii_deficiency_nuclear_type_1_gracile_syndrome_pili_torti_deafness_syndrome Mitochondrial complex III deficiency nuclear type 1;GRACILE syndrome;Pili torti-deafness syndrome Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iii_deficiency_nuclear_type_1_pili_torti_deafness_syndrome_gracile_syndrome Mitochondrial complex III deficiency nuclear type 1;Pili torti-deafness syndrome;GRACILE syndrome Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iii_deficiency_nuclear_type_1_pili_torti_deafness_syndrome_leigh_syndrome_gracile_syndrome Mitochondrial complex III deficiency nuclear type 1;Pili torti-deafness syndrome;Leigh syndrome;GRACILE syndrome Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iv_deficiency_nuclear_type_1_charcot_marie_tooth_disease_type_4k Mitochondrial complex IV deficiency, nuclear type 1;Charcot-Marie-Tooth disease type 4K Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iv_deficiency_nuclear_type_1_infantile_encephalopathy Mitochondrial complex IV deficiency, nuclear type 1;Infantile encephalopathy Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iv_deficiency_nuclear_type_1_leigh_syndrome Mitochondrial complex IV deficiency, nuclear type 1;Leigh syndrome Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iv_deficiency_nuclear_type_24 Mitochondrial complex IV deficiency, nuclear type 24 Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iv_deficiency_nuclear_type_5_french_canadian Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_iv_deficiency_with_recurrent_myoglobinuria Mitochondrial complex IV deficiency with recurrent myoglobinuria Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_4a_combined_oxidative_phosphorylation_deficiency_22_mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_4b Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A;Combined oxidative phosphorylation deficiency 22;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_4b_combined_oxidative_phosphorylation_deficiency_22_mitochondrial_complex_v_atp_synthase_deficiency_nuclear_type_4a Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B;Combined oxidative phosphorylation deficiency 22;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A Supplemental_disease_name DISEASE_NAME:mitochondrial_complex_v_deficiency Mitochondrial complex V deficiency Supplemental_disease_name DISEASE_NAME:mitochondrial_cytochrome_c_oxidase_deficiency Mitochondrial cytochrome c oxidase deficiency Supplemental_disease_name DISEASE_NAME:mitochondrial_disease Mitochondrial disease Supplemental_disease_name DISEASE_NAME:mitochondrial_disorder_due_to_a_defect_in_assembly_or_maturation_of_the_respiratory_chain_complexes Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_associated_leigh_syndrome_and_narp Mitochondrial DNA-Associated Leigh Syndrome and NARP Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_deletion_syndrome_with_progressive_myopathy_seckel_syndrome_8 Mitochondrial DNA deletion syndrome with progressive myopathy;Seckel syndrome 8 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_12a_cardiomyopathic_type_autosomal_dominant Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_12a_cardiomyopathic_type_autosomal_dominant_mitochondrial_dna_depletion_syndrome_12b_cardiomyopathic_type_autosomal_recessive_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_2 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_12b_cardiomyopathic_type_autosomal_recessive Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_12b_cardiomyopathic_type_autosomal_recessive_mitochondrial_dna_depletion_syndrome_12a_cardiomyopathic_type_autosomal_dominant_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_2 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive;Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_14a_encephalomyopathic_type Mitochondrial dna depletion syndrome 14A (encephalomyopathic type) Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type_abortive_cerebellar_ataxia_optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_autosomal_dominant_optic_atrophy_classic_form Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type);Abortive cerebellar ataxia;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Autosomal dominant optic atrophy classic form Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_15_hepatocerebral_type Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_16_hepatic_type_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_4 Mitochondrial DNA depletion syndrome 16 (hepatic type);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_16_hepatic_type_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_4_mitochondrial_dna_depletion_syndrome_16b_neuroophthalmic_type Mitochondrial DNA depletion syndrome 16 (hepatic type);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4;Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_16a Mitochondrial DNA depletion syndrome 16A Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_16b_neuroophthalmic_type_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_4_mitochondrial_dna_depletion_syndrome_16_hepatic_type Mitochondrial dna depletion syndrome 16B (neuroophthalmic type);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4;Mitochondrial DNA depletion syndrome 16 (hepatic type) Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_2_myopathic_form Mitochondrial DNA depletion syndrome 2, myopathic form Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type_portal_hypertension_noncirrhotic_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_4 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type);Portal hypertension, noncirrhotic, 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_4_portal_hypertension_noncirrhotic_1 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Portal hypertension, noncirrhotic, 1 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1 Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_sclerosing_poliodystrophy Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_sclerosing_poliodystrophy Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive sclerosing poliodystrophy Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_sclerosing_poliodystrophy_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1 Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive sclerosing poliodystrophy;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_sclerosing_poliodystrophy_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_sclerosing_poliodystrophy Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive sclerosing poliodystrophy Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_4b_progressive_sclerosing_poliodystrophy Mitochondrial DNA depletion syndrome 4b;Progressive sclerosing poliodystrophy Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_4b_progressive_sclerosing_poliodystrophy_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Mitochondrial DNA depletion syndrome 4b;Progressive sclerosing poliodystrophy;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_6_hepatocerebral_type Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_6_hepatocerebral_type_charcot_marie_tooth_disease_axonal_type_2ee Mitochondrial DNA depletion syndrome 6 (hepatocerebral type);Charcot-Marie-Tooth disease, axonal, type 2EE Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_8a_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_5_rod_cone_dystrophy_sensorineural_deafness_and_fanconi_type_renal_dysfunction Mitochondrial DNA depletion syndrome 8a;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5;Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_8a_rod_cone_dystrophy_sensorineural_deafness_and_fanconi_type_renal_dysfunction Mitochondrial DNA depletion syndrome 8a;Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_8a_rod_cone_dystrophy_sensorineural_deafness_and_fanconi_type_renal_dysfunction_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_5 Mitochondrial DNA depletion syndrome 8a;Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_8b_mngie_type Mitochondrial DNA depletion syndrome 8B (MNGIE type) Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_encephalomyopathic_form_with_methylmalonic_aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_hepatocerebral_form Mitochondrial DNA depletion syndrome, hepatocerebral form Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_myopathic_form Mitochondrial DNA depletion syndrome, myopathic form Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_depletion_syndrome_myopathic_form_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_3 Mitochondrial DNA depletion syndrome, myopathic form;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_disorder Mitochondrial-DNA disorder Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_maintenance_disorder Mitochondrial DNA maintenance disorder Supplemental_disease_name DISEASE_NAME:mitochondrial_dna_related_disorder Mitochondrial DNA-related disorder Supplemental_disease_name DISEASE_NAME:mitochondrial_encephalomyopathy_global_developmental_delay Mitochondrial encephalomyopathy;Global developmental delay Supplemental_disease_name DISEASE_NAME:mitochondrial_encephalopathy Mitochondrial encephalopathy Supplemental_disease_name DISEASE_NAME:mitochondrial_encephalopathy_epilepsy_developmental_delay Mitochondrial encephalopathy;Epilepsy;Developmental delay Supplemental_disease_name DISEASE_NAME:mitochondrial_hearing_loss Mitochondrial hearing loss Supplemental_disease_name DISEASE_NAME:mitochondrial_hepato_encephalopathy Mitochondrial hepato-encephalopathy Supplemental_disease_name DISEASE_NAME:mitochondrial_hepatopathy mitochondrial hepatopathy Supplemental_disease_name DISEASE_NAME:mitochondrial_inheritance Mitochondrial inheritance Supplemental_disease_name DISEASE_NAME:mitochondrial_multisystem_dysfunction MITOCHONDRIAL MULTISYSTEM DYSFUNCTION Supplemental_disease_name DISEASE_NAME:mitochondrial_myopathy_cerebellar_ataxia_pigmentary_retinopathy_syndrome Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Supplemental_disease_name DISEASE_NAME:mitochondrial_myopathy_episodic_with_optic_atrophy_and_reversible_leukoencephalopathy Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy Supplemental_disease_name DISEASE_NAME:mitochondrial_myopathy_episodic_without_optic_atrophy_and_reversible_leukoencephalopathy Mitochondrial myopathy, episodic, without optic atrophy and reversible leukoencephalopathy Supplemental_disease_name DISEASE_NAME:mitochondrial_myopathy_isolated Mitochondrial myopathy, isolated Supplemental_disease_name DISEASE_NAME:mitochondrial_myopathy_lactic_acidosis_deafness_syndrome Mitochondrial myopathy-lactic acidosis-deafness syndrome Supplemental_disease_name DISEASE_NAME:mitochondrial_myopathy_with_reversible_cytochrome_c_oxidase_deficiency Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Supplemental_disease_name DISEASE_NAME:mitochondrial_neurogastrointestinal_encephalomyopathy Mitochondrial neurogastrointestinal encephalomyopathy Supplemental_disease_name DISEASE_NAME:mitochondrial_non_syndromic_sensorineural_hearing_loss Mitochondrial non-syndromic sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:mitochondrial_non_syndromic_sensorineural_hearing_loss_aminoglycoside_induced_deafness Mitochondrial non-syndromic sensorineural hearing loss;Aminoglycoside-induced deafness Supplemental_disease_name DISEASE_NAME:mitochondrial_oxidative_phosphorylation_disorder Mitochondrial oxidative phosphorylation disorder Supplemental_disease_name DISEASE_NAME:mitochondrial_proton_transporting_atp_synthase_complex_deficiency Mitochondrial proton-transporting ATP synthase complex deficiency Supplemental_disease_name DISEASE_NAME:mitochondrial_skeletal_myopathy MITOCHONDRIAL SKELETAL MYOPATHY Supplemental_disease_name DISEASE_NAME:mitochondrial_skeletal_myopathy_responsive_to_riboflavin Mitochondrial skeletal myopathy, responsive to riboflavin Supplemental_disease_name DISEASE_NAME:mitochondrial_trifunctional_protein_deficiency_1_long_chain_3_hydroxyacyl_coa_dehydrogenase_deficiency Mitochondrial trifunctional protein deficiency 1;Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:mitochondrial_trifunctional_protein_deficiency_2_with_myopathy_and_neuropathy Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy Supplemental_disease_name DISEASE_NAME:mitochondrial_trifunctional_protein_deficiency_long_chain_3_hydroxyacyl_coa_dehydrogenase_deficiency Mitochondrial trifunctional protein deficiency;Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:mitogen_activated_protein_kinase_kinase_inhibitor_response Mitogen-activated protein kinase kinase inhibitor response Supplemental_disease_name DISEASE_NAME:mitral_regurgitation_abnormal_left_ventricle_morphology_aortic_root_aneurysm_myopia_tricuspid_regurgitation Mitral regurgitation;Abnormal left ventricle morphology;Aortic root aneurysm;Myopia;Tricuspid regurgitation Supplemental_disease_name DISEASE_NAME:mitral_regurgitation_aortic_dissection_ectopia_lentis Mitral regurgitation;Aortic dissection;Ectopia lentis Supplemental_disease_name DISEASE_NAME:mitral_regurgitation_atrial_septal_defect_ostium_secundum_type_ventricular_septal_defect Mitral regurgitation;Atrial septal defect, ostium secundum type;Ventricular septal defect Supplemental_disease_name DISEASE_NAME:mitral_valve_prolapse_myxomatous_2 Mitral valve prolapse, myxomatous 2 Supplemental_disease_name DISEASE_NAME:mitral_valve_prolapse_myxomatous_2_van_maldergem_syndrome_1 Mitral valve prolapse, myxomatous 2;Van Maldergem syndrome 1 Supplemental_disease_name DISEASE_NAME:mitral_valve_prolapse_myxomatous_3 Mitral valve prolapse, myxomatous 3 Supplemental_disease_name DISEASE_NAME:mitral_valve_prolapse_pulmonary_artery_dilatation_striae_distensae Mitral valve prolapse;Pulmonary artery dilatation;Striae distensae Supplemental_disease_name DISEASE_NAME:mixed_phenotype_acute_leukemia_t_myeloid_not_otherwise_specified Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified Supplemental_disease_name DISEASE_NAME:mixed_phenotype_acute_leukemia_with_t_v_11q23_3 Mixed phenotype acute leukemia with t(v;11q23.3) Supplemental_disease_name DISEASE_NAME:miyoshi_muscular_dystrophy_1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b Miyoshi muscular dystrophy 1;Autosomal recessive limb-girdle muscular dystrophy type 2B Supplemental_disease_name DISEASE_NAME:miyoshi_muscular_dystrophy_1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_distal_myopathy_with_anterior_tibial_onset Miyoshi muscular dystrophy 1;Autosomal recessive limb-girdle muscular dystrophy type 2B;Distal myopathy with anterior tibial onset Supplemental_disease_name DISEASE_NAME:miyoshi_muscular_dystrophy_1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b_distal_myopathy_with_anterior_tibial_onset_neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_dysferlin Miyoshi muscular dystrophy 1;Autosomal recessive limb-girdle muscular dystrophy type 2B;Distal myopathy with anterior tibial onset;Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Supplemental_disease_name DISEASE_NAME:miyoshi_muscular_dystrophy_1_distal_myopathy_with_anterior_tibial_onset_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2b Miyoshi muscular dystrophy 1;Distal myopathy with anterior tibial onset;Autosomal recessive limb-girdle muscular dystrophy type 2B Supplemental_disease_name DISEASE_NAME:miyoshi_muscular_dystrophy_3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l Miyoshi muscular dystrophy 3;Autosomal recessive limb-girdle muscular dystrophy type 2L Supplemental_disease_name DISEASE_NAME:miyoshi_muscular_dystrophy_3_gnathodiaphyseal_dysplasia_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2l Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L Supplemental_disease_name DISEASE_NAME:mki67_related_disorder MKI67-related disorder Supplemental_disease_name DISEASE_NAME:mkks_related_ciliopathy MKKS-related ciliopathy Supplemental_disease_name DISEASE_NAME:mkks_related_disorder MKKS-related disorder Supplemental_disease_name DISEASE_NAME:mkrn3_related_disorder MKRN3-related disorder Supplemental_disease_name DISEASE_NAME:mks1_related_disorder MKS1-related disorder Supplemental_disease_name DISEASE_NAME:mkx_related_disorder MKX-related disorder Supplemental_disease_name DISEASE_NAME:mlc1_related_disorder MLC1-related disorder Supplemental_disease_name DISEASE_NAME:mlf1_related_disorder MLF1-related disorder Supplemental_disease_name DISEASE_NAME:mlh1_related_disorder MLH1-related disorder Supplemental_disease_name DISEASE_NAME:mlh3_related_disorder MLH3-related disorder Supplemental_disease_name DISEASE_NAME:mlip_related_disorder MLIP-related disorder Supplemental_disease_name DISEASE_NAME:mllt10_related_disorder MLLT10-related disorder Supplemental_disease_name DISEASE_NAME:mllt3_related_neuromotor_development_delay MLLT3-related neuromotor development delay Supplemental_disease_name DISEASE_NAME:mlph_related_disorder MLPH-related disorder Supplemental_disease_name DISEASE_NAME:mlxipl_related_disorder MLXIPL-related disorder Supplemental_disease_name DISEASE_NAME:mlycd_related_disorder MLYCD-related disorder Supplemental_disease_name DISEASE_NAME:mmaa_related_disorder MMAA-related disorder Supplemental_disease_name DISEASE_NAME:mmab_related_disorder MMAB-related disorder Supplemental_disease_name DISEASE_NAME:mmachc_related_disorder MMACHC-related disorder Supplemental_disease_name DISEASE_NAME:mmadhc_related_disorder MMADHC-related disorder Supplemental_disease_name DISEASE_NAME:mmd2_related_condition MMD2-related condition Supplemental_disease_name DISEASE_NAME:mme_related_autosomal_dominant_charcot_marie_tooth_disease_type_2 MME-related autosomal dominant Charcot Marie Tooth disease type 2 Supplemental_disease_name DISEASE_NAME:mme_related_disorder MME-related disorder Supplemental_disease_name DISEASE_NAME:mme_related_distal_hereditary_motor_neuropathies MME-related distal hereditary motor neuropathies Supplemental_disease_name DISEASE_NAME:mmp13_related_disorder MMP13-related disorder Supplemental_disease_name DISEASE_NAME:mmp14_related_disorder MMP14-related disorder Supplemental_disease_name DISEASE_NAME:mmp19_related_disorder MMP19-related disorder Supplemental_disease_name DISEASE_NAME:mmp1_related_disorder MMP1-related disorder Supplemental_disease_name DISEASE_NAME:mmp20_related_disorder MMP20-related disorder Supplemental_disease_name DISEASE_NAME:mmp21_related_disorder MMP21-related disorder Supplemental_disease_name DISEASE_NAME:mmp2_related_disorder MMP2-related disorder Supplemental_disease_name DISEASE_NAME:mmp3_related_disorder MMP3-related disorder Supplemental_disease_name DISEASE_NAME:mmp9_related_disorder MMP9-related disorder Supplemental_disease_name DISEASE_NAME:mmut_related_disorder MMUT-related disorder Supplemental_disease_name DISEASE_NAME:mn1_c_terminal_truncation_mctt_syndrome MN1 C-terminal truncation (MCTT) syndrome Supplemental_disease_name DISEASE_NAME:mn1_related_disorder MN1-related disorder Supplemental_disease_name DISEASE_NAME:mns1_related_disorder MNS1-related disorder Supplemental_disease_name DISEASE_NAME:mnx1_related_disorder MNX1-related disorder Supplemental_disease_name DISEASE_NAME:mo_alloantigen_polymorphism Mo ALLOANTIGEN POLYMORPHISM Supplemental_disease_name DISEASE_NAME:mobp_related_disorder MOBP-related disorder Supplemental_disease_name DISEASE_NAME:mocos_related_disorder MOCOS-related disorder Supplemental_disease_name DISEASE_NAME:mocs1_related_disorder MOCS1-related disorder Supplemental_disease_name DISEASE_NAME:mocs2_related_disorder MOCS2-related disorder Supplemental_disease_name DISEASE_NAME:mocs2_related_molybdenum_cofactor_deficiency MOCS2-related molybdenum cofactor deficiency Supplemental_disease_name DISEASE_NAME:mocs3_related_disorder MOCS3-related disorder Supplemental_disease_name DISEASE_NAME:moderate_albuminuria_proteinuria_microscopic_hematuria Moderate albuminuria;Proteinuria;Microscopic hematuria Supplemental_disease_name DISEASE_NAME:moderate_global_developmental_delay Moderate global developmental delay Supplemental_disease_name DISEASE_NAME:moderate_global_developmental_delay_atypical_behavior Moderate global developmental delay;Atypical behavior Supplemental_disease_name DISEASE_NAME:moderate_global_developmental_delay_autistic_behavior Moderate global developmental delay;Autistic behavior Supplemental_disease_name DISEASE_NAME:moderate_intellectual_deficiency Moderate intellectual deficiency Supplemental_disease_name DISEASE_NAME:moderate_intellectual_disability Moderate intellectual disability Supplemental_disease_name DISEASE_NAME:moderate_intellectual_disability_autistic_behavior_global_developmental_delay Moderate intellectual disability;Autistic behavior;Global developmental delay Supplemental_disease_name DISEASE_NAME:moderate_intellectual_disability_delayed_speech_and_language_development_bilateral_sensorineural_hearing_impairment Moderate intellectual disability;Delayed speech and language development;Bilateral sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:moderate_intellectual_disability_macular_dystrophy Moderate intellectual disability;Macular dystrophy Supplemental_disease_name DISEASE_NAME:moderate_intellectual_disability_seizure_autistic_behavior_global_developmental_delay Moderate intellectual disability;Seizure;Autistic behavior;Global developmental delay Supplemental_disease_name DISEASE_NAME:moderate_ndd Moderate NDD Supplemental_disease_name DISEASE_NAME:moderately_severe_hemophilia_b Moderately severe hemophilia B Supplemental_disease_name DISEASE_NAME:mog_related_disorder MOG-related disorder Supplemental_disease_name DISEASE_NAME:mogs_congenital_disorder_of_glycosylation MOGS-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:mogs_related_disorder MOGS-related disorder Supplemental_disease_name DISEASE_NAME:mohr_syndrome_short_rib_thoracic_dysplasia_6_with_or_without_polydactyly Mohr syndrome;Short-rib thoracic dysplasia 6 with or without polydactyly Supplemental_disease_name DISEASE_NAME:mohr_syndrome_short_rib_thoracic_dysplasia_6_with_or_without_polydactyly_amyotrophic_lateral_sclerosis_susceptibility_to_24 Mohr syndrome;Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis, susceptibility to, 24 Supplemental_disease_name DISEASE_NAME:molar_tooth_sign_on_mri_central_hypotonia_nystagmus Molar tooth sign on MRI;Central hypotonia;Nystagmus Supplemental_disease_name DISEASE_NAME:monilethrix_1_erythrokeratodermia_variabilis_et_progressiva_5 Monilethrix-1;Erythrokeratodermia variabilis et progressiva 5 Supplemental_disease_name DISEASE_NAME:monilethrix_erythrokeratodermia_variabilis_et_progressiva_5 Monilethrix;Erythrokeratodermia variabilis et progressiva 5 Supplemental_disease_name DISEASE_NAME:monocarboxylate_transporter_1_deficiency_autosomal_dominant Monocarboxylate transporter 1 deficiency, autosomal dominant Supplemental_disease_name DISEASE_NAME:monocarboxylate_transporter_1_deficiency_autosomal_recessive Monocarboxylate transporter 1 deficiency, autosomal recessive Supplemental_disease_name DISEASE_NAME:monocarboxylate_transporter_8_deficiency Monocarboxylate transporter 8 deficiency Supplemental_disease_name DISEASE_NAME:monoclonal_b_cell_lymphocytosis Monoclonal B-Cell Lymphocytosis Supplemental_disease_name DISEASE_NAME:monocytopenia_with_susceptibility_to_infections_acute_myeloid_leukemia_myelodysplastic_syndrome_deafness_lymphedema_leukemia_syndrome Monocytopenia with susceptibility to infections;Acute myeloid leukemia;Myelodysplastic syndrome;Deafness-lymphedema-leukemia syndrome Supplemental_disease_name DISEASE_NAME:monocytopenia_with_susceptibility_to_infections_deafness_lymphedema_leukemia_syndrome Monocytopenia with susceptibility to infections;Deafness-lymphedema-leukemia syndrome Supplemental_disease_name DISEASE_NAME:monocytopenia_with_susceptibility_to_infections_myelodysplastic_syndrome_deafness_lymphedema_leukemia_syndrome_acute_myeloid_leukemia Monocytopenia with susceptibility to infections;Myelodysplastic syndrome;Deafness-lymphedema-leukemia syndrome;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:monogenic_diabetes Monogenic diabetes Supplemental_disease_name DISEASE_NAME:monogenic_hearing_loss Monogenic hearing loss Supplemental_disease_name DISEASE_NAME:monogenic_short_statue Monogenic short statue Supplemental_disease_name DISEASE_NAME:monogenic_short_stature Monogenic short stature Supplemental_disease_name DISEASE_NAME:monomelic_amyotrophy Monomelic amyotrophy Supplemental_disease_name DISEASE_NAME:monosomy_13q34 Monosomy 13q34 Supplemental_disease_name DISEASE_NAME:monosomy_21 Monosomy 21 Supplemental_disease_name DISEASE_NAME:monosomy_7_myelodysplasia_and_leukemia_syndrome Monosomy 7 myelodysplasia and leukemia syndrome Supplemental_disease_name DISEASE_NAME:monosomy_7_myelodysplasia_and_leukemia_syndrome_1 Monosomy 7 myelodysplasia and leukemia syndrome 1 Supplemental_disease_name DISEASE_NAME:monosomy_7_myelodysplasia_and_leukemia_syndrome_1_ataxia_pancytopenia_syndrome_spinocerebellar_ataxia_49 Monosomy 7 myelodysplasia and leukemia syndrome 1;Ataxia-pancytopenia syndrome;Spinocerebellar ataxia 49 Supplemental_disease_name DISEASE_NAME:monosomy_7_myelodysplasia_and_leukemia_syndrome_1_spinocerebellar_ataxia_49_ataxia_pancytopenia_syndrome Monosomy 7 myelodysplasia and leukemia syndrome 1;Spinocerebellar ataxia 49;Ataxia-pancytopenia syndrome Supplemental_disease_name DISEASE_NAME:monosomy_7_myelodysplasia_and_leukemia_syndrome_2 Monosomy 7 myelodysplasia and leukemia syndrome 2 Supplemental_disease_name DISEASE_NAME:monosomy_7_myelodysplasia_and_leukemia_syndrome_2_mirage_syndrome_normophosphatemic_familial_tumoral_calcinosis Monosomy 7 myelodysplasia and leukemia syndrome 2;MIRAGE syndrome;Normophosphatemic familial tumoral calcinosis Supplemental_disease_name DISEASE_NAME:monosomy_7_myelodysplasia_and_leukemia_syndrome_2_normophosphatemic_familial_tumoral_calcinosis_mirage_syndrome Monosomy 7 myelodysplasia and leukemia syndrome 2;Normophosphatemic familial tumoral calcinosis;MIRAGE syndrome Supplemental_disease_name DISEASE_NAME:morc2_related_developmental_disorder MORC2-related developmental disorder Supplemental_disease_name DISEASE_NAME:morc2_related_disorder MORC2-related disorder Supplemental_disease_name DISEASE_NAME:morc2_related_neurodevelopmental_disorders MORC2-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:morimoto_ryu_malicdan_neuromuscular_syndrome Morimoto-Ryu-Malicdan neuromuscular syndrome Supplemental_disease_name DISEASE_NAME:morm_syndrome MORM syndrome Supplemental_disease_name DISEASE_NAME:morm_syndrome_joubert_syndrome_1 MORM syndrome;Joubert syndrome 1 Supplemental_disease_name DISEASE_NAME:morphological_central_nervous_system_abnormality Morphological central nervous system abnormality Supplemental_disease_name DISEASE_NAME:morquio_syndrome Morquio syndrome Supplemental_disease_name DISEASE_NAME:mortality_risk_in_patients_with_severe_coronavirus_disease_covid_19 Mortality risk in patients with severe coronavirus disease (COVID-19) Supplemental_disease_name DISEASE_NAME:mosaic_kras_related_syndrome Mosaic KRAS-related syndrome Supplemental_disease_name DISEASE_NAME:mosaic_neurofibromatosis_type_1 Mosaic neurofibromatosis type 1 Supplemental_disease_name DISEASE_NAME:mosaic_supernumerary_isodicentric_chromosome_10 Mosaic supernumerary isodicentric chromosome 10 Supplemental_disease_name DISEASE_NAME:mosaic_trisomy_2 Mosaic trisomy 2 Supplemental_disease_name DISEASE_NAME:mosaic_variegated_aneuploidy_syndrome_1_colorectal_cancer_premature_chromatid_separation_trait Mosaic variegated aneuploidy syndrome 1;Colorectal cancer;Premature chromatid separation trait Supplemental_disease_name DISEASE_NAME:mosaic_variegated_aneuploidy_syndrome_1_premature_chromatid_separation_trait_carcinoma_of_colon Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait;Carcinoma of colon Supplemental_disease_name DISEASE_NAME:mosaic_variegated_aneuploidy_syndrome_1_premature_chromatid_separation_trait_colorectal_cancer Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait;Colorectal cancer Supplemental_disease_name DISEASE_NAME:mosaic_variegated_aneuploidy_syndrome_3_oocyte_maturation_defect_9 Mosaic variegated aneuploidy syndrome 3;Oocyte maturation defect 9 Supplemental_disease_name DISEASE_NAME:motor_and_sensory_neuropathy Motor and sensory neuropathy Supplemental_disease_name DISEASE_NAME:motor_axonal_neuropathy Motor axonal neuropathy Supplemental_disease_name DISEASE_NAME:motor_delay Motor delay Supplemental_disease_name DISEASE_NAME:motor_delay_autism_delayed_speech_and_language_development_seizure Motor delay;Autism;Delayed speech and language development;Seizure Supplemental_disease_name DISEASE_NAME:motor_delay_delayed_speech_and_language_development Motor delay;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:motor_delay_emg_abnormality_limb_girdle_muscle_weakness Motor delay;EMG abnormality;Limb-girdle muscle weakness Supplemental_disease_name DISEASE_NAME:motor_delay_hirsutism Motor delay;Hirsutism Supplemental_disease_name DISEASE_NAME:motor_development_delay Motor development delay Supplemental_disease_name DISEASE_NAME:motor_developmental_delay_due_to_14q32_2_paternally_expressed_gene_defect Motor developmental delay due to 14q32.2 paternally expressed gene defect Supplemental_disease_name DISEASE_NAME:motor_disorders Motor Disorders Supplemental_disease_name DISEASE_NAME:motor_tics Motor tics Supplemental_disease_name DISEASE_NAME:motor_tics_autistic_behavior_global_developmental_delay_intellectual_disability Motor tics;Autistic behavior;Global developmental delay;Intellectual disability Supplemental_disease_name DISEASE_NAME:motor_tics_severe_intellectual_disability_autistic_behavior_global_developmental_delay Motor tics;Severe intellectual disability;Autistic behavior;Global developmental delay Supplemental_disease_name DISEASE_NAME:mov10_related_disorder MOV10-related disorder Supplemental_disease_name DISEASE_NAME:movement_disorder Movement disorder Supplemental_disease_name DISEASE_NAME:movement_disorder_cerebellar_atrophy_specific_learning_disability_seizure_global_developmental_delay Movement disorder;Cerebellar atrophy;Specific learning disability;Seizure;Global developmental delay Supplemental_disease_name DISEASE_NAME:movement_disorder_seizure_global_developmental_delay Movement disorder;Seizure;Global developmental delay Supplemental_disease_name DISEASE_NAME:movement_disorder_specific_learning_disability_seizure_cerebellar_atrophy_global_developmental_delay Movement disorder;Specific learning disability;Seizure;Cerebellar atrophy;Global developmental delay Supplemental_disease_name DISEASE_NAME:moyamoya_angiopathy Moyamoya angiopathy Supplemental_disease_name DISEASE_NAME:moyamoya_angiopathy_short_stature_facial_dysmorphism_hypergonadotropic_hypogonadism_syndrome Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Supplemental_disease_name DISEASE_NAME:moyamoya_angiopathy_with_developmental_delay Moyamoya angiopathy with developmental delay Supplemental_disease_name DISEASE_NAME:moyamoya_disease_1 Moyamoya disease 1 Supplemental_disease_name DISEASE_NAME:moyamoya_disease_2 Moyamoya disease 2 Supplemental_disease_name DISEASE_NAME:moyamoya_disease_5 Moyamoya disease 5 Supplemental_disease_name DISEASE_NAME:moyamoya_disease_5_aortic_aneurysm_familial_thoracic_6_multisystemic_smooth_muscle_dysfunction_syndrome Moyamoya disease 5;Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome Supplemental_disease_name DISEASE_NAME:moyamoya_disease_7 Moyamoya disease 7 Supplemental_disease_name DISEASE_NAME:moyamoya_disease_8 Moyamoya disease 8 Supplemental_disease_name DISEASE_NAME:moyamoya_disease_with_early_onset_achalasia Moyamoya disease with early-onset achalasia Supplemental_disease_name DISEASE_NAME:mpc1_related_disorder MPC1-related disorder Supplemental_disease_name DISEASE_NAME:mpdu1_congenital_disorder_of_glycosylation MPDU1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:mpdu1_related_disorder MPDU1-related disorder Supplemental_disease_name DISEASE_NAME:mpdz_related_disorder MPDZ-related disorder Supplemental_disease_name DISEASE_NAME:mpeg1_related_disorder MPEG1-related disorder Supplemental_disease_name DISEASE_NAME:mpeg1_related_immunodeficiency MPEG1-related immunodeficiency Supplemental_disease_name DISEASE_NAME:mpg_related_condition MPG-related condition Supplemental_disease_name DISEASE_NAME:mpi_congenital_disorder_of_glycosylation MPI-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:mpi_related_disorder MPI-related disorder Supplemental_disease_name DISEASE_NAME:mpig6b_related_disorder MPIG6B-related disorder Supplemental_disease_name DISEASE_NAME:mpl_related_disorder MPL-related disorder Supplemental_disease_name DISEASE_NAME:mplkip_related_disorder MPLKIP-related disorder Supplemental_disease_name DISEASE_NAME:mpo_related_disorder MPO-related disorder Supplemental_disease_name DISEASE_NAME:mpst_related_disorder MPST-related disorder Supplemental_disease_name DISEASE_NAME:mpv17_related_disorder MPV17-related disorder Supplemental_disease_name DISEASE_NAME:mpv17_related_mitochondrial_dna_maintenance_defect MPV17-related mitochondrial DNA maintenance defect Supplemental_disease_name DISEASE_NAME:mpz_related_charcot_marie_tooth MPZ-related Charcot-Marie-Tooth Supplemental_disease_name DISEASE_NAME:mpz_related_disorder MPZ-related disorder Supplemental_disease_name DISEASE_NAME:mpz_related_polyneuropathy MPZ-related polyneuropathy Supplemental_disease_name DISEASE_NAME:mpzl2_related_disorder MPZL2-related disorder Supplemental_disease_name DISEASE_NAME:mr1_related_disorder MR1-related disorder Supplemental_disease_name DISEASE_NAME:mrap2_related_disorder MRAP2-related disorder Supplemental_disease_name DISEASE_NAME:mrap_related_disorder MRAP-related disorder Supplemental_disease_name DISEASE_NAME:mras_related_disorder MRAS-related disorder Supplemental_disease_name DISEASE_NAME:mre11_related_disorder MRE11-related disorder Supplemental_disease_name DISEASE_NAME:mreg_related_condition MREG-related condition Supplemental_disease_name DISEASE_NAME:mrgprf_related_condition MRGPRF-related condition Supplemental_disease_name DISEASE_NAME:mrm2_related_disorder MRM2-related disorder Supplemental_disease_name DISEASE_NAME:mrpl10_related_disorder MRPL10-related disorder Supplemental_disease_name DISEASE_NAME:mrpl12_related_disorder MRPL12-related disorder Supplemental_disease_name DISEASE_NAME:mrpl24_related_condition MRPL24-related condition Supplemental_disease_name DISEASE_NAME:mrpl3_related_disorder MRPL3-related disorder Supplemental_disease_name DISEASE_NAME:mrpl44_related_disorder MRPL44-related disorder Supplemental_disease_name DISEASE_NAME:mrps12_related_disorder MRPS12-related disorder Supplemental_disease_name DISEASE_NAME:mrps14_related_disorder MRPS14-related disorder Supplemental_disease_name DISEASE_NAME:mrps16_related_disorder MRPS16-related disorder Supplemental_disease_name DISEASE_NAME:mrps22_related_disorder MRPS22-related disorder Supplemental_disease_name DISEASE_NAME:mrps23_related_disorder MRPS23-related disorder Supplemental_disease_name DISEASE_NAME:mrps28_related_disorder MRPS28-related disorder Supplemental_disease_name DISEASE_NAME:mrps2_related_disorder MRPS2-related disorder Supplemental_disease_name DISEASE_NAME:mrps34_related_disorder MRPS34-related disorder Supplemental_disease_name DISEASE_NAME:mrps7_related_disorder MRPS7-related disorder Supplemental_disease_name DISEASE_NAME:mrtfa_related_disorder MRTFA-related disorder Supplemental_disease_name DISEASE_NAME:mrtfb_related_disorder MRTFB-related disorder Supplemental_disease_name DISEASE_NAME:mrtfb_related_neurodevelopmental_disorder MRTFB-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ms4a1_related_disorder MS4A1-related disorder Supplemental_disease_name DISEASE_NAME:ms4a2_related_disorder MS4A2-related disorder Supplemental_disease_name DISEASE_NAME:msh2_polymorphism MSH2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:msh2_related_disorder MSH2-related disorder Supplemental_disease_name DISEASE_NAME:msh3_related_disorder MSH3-related disorder Supplemental_disease_name DISEASE_NAME:msh4_related_condition MSH4-related condition Supplemental_disease_name DISEASE_NAME:msh5_related_disorder MSH5-related disorder Supplemental_disease_name DISEASE_NAME:msh6_related_disorder MSH6-related disorder Supplemental_disease_name DISEASE_NAME:msl3_related_disorder MSL3-related disorder Supplemental_disease_name DISEASE_NAME:msmo1_related_disorder MSMO1-related disorder Supplemental_disease_name DISEASE_NAME:msn_related_disorder MSN-related disorder Supplemental_disease_name DISEASE_NAME:msr1_related_disorder MSR1-related disorder Supplemental_disease_name DISEASE_NAME:msra_related_disorder MSRA-related disorder Supplemental_disease_name DISEASE_NAME:msrb3_related_disorder MSRB3-related disorder Supplemental_disease_name DISEASE_NAME:mst1r_related_disorder MST1R-related disorder Supplemental_disease_name DISEASE_NAME:mstn_related_disorder MSTN-related disorder Supplemental_disease_name DISEASE_NAME:msto1_related_disorder MSTO1-related disorder Supplemental_disease_name DISEASE_NAME:msx1_related_disorder MSX1-related disorder Supplemental_disease_name DISEASE_NAME:msx1_related_selective_tooth_agenesis_with_or_without_orofacial_cleft MSX1-related selective tooth agenesis with or without orofacial cleft Supplemental_disease_name DISEASE_NAME:msx2_related_disorder MSX2-related disorder Supplemental_disease_name DISEASE_NAME:mt1x_related_disorder MT1X-related disorder Supplemental_disease_name DISEASE_NAME:mt_atp6_related_disorder MT-ATP6-related disorder Supplemental_disease_name DISEASE_NAME:mt_atp6_related_mitochondrial_disease MT-ATP6-related mitochondrial disease Supplemental_disease_name DISEASE_NAME:mt_atp6_related_primary_mitochondrial_disease MT-ATP6-related primary mitochondrial disease Supplemental_disease_name DISEASE_NAME:mt_cyb_associated_exercise_intolerance_mt_cyb_associated_mitochondrial_myopathy MT-CYB associated Exercise intolerance;MT-CYB associated Mitochondrial myopathy Supplemental_disease_name DISEASE_NAME:mt_nd1_related_disorder MT-ND1-related disorder Supplemental_disease_name DISEASE_NAME:mt_nd4_related_disorder MT-ND4-related disorder Supplemental_disease_name DISEASE_NAME:mt_nd4_related_disorders MT-ND4-related disorders Supplemental_disease_name DISEASE_NAME:mt_nd5_related_disorders MT-ND5-related disorders Supplemental_disease_name DISEASE_NAME:mt_tf_related_mito_tubulointerstitial_kidney_disease_mitkd MT-TF-related mito tubulointerstitial kidney disease (MITKD) Supplemental_disease_name DISEASE_NAME:mt_th_related_condition MT-TH-related condition Supplemental_disease_name DISEASE_NAME:mt_th_related_disorders MT-TH-related disorders Supplemental_disease_name DISEASE_NAME:mt_ti_related_disorder MT-TI-related disorder Supplemental_disease_name DISEASE_NAME:mt_tk_related_disorder MT-TK-related disorder Supplemental_disease_name DISEASE_NAME:mt_tk_related_mitochondrial_disorder MT-TK-related mitochondrial disorder Supplemental_disease_name DISEASE_NAME:mt_tl1_related_disorder MT-TL1-related disorder Supplemental_disease_name DISEASE_NAME:mt_tl1_related_disorders MT-TL1-related disorders Supplemental_disease_name DISEASE_NAME:mt_tq_related_myopathy MT-TQ-related myopathy Supplemental_disease_name DISEASE_NAME:mtap_related_disorder MTAP-related disorder Supplemental_disease_name DISEASE_NAME:mtdna_related_disorders mtDNA-related disorders Supplemental_disease_name DISEASE_NAME:mtfmt_related_disorder MTFMT-related disorder Supplemental_disease_name DISEASE_NAME:mtfmt_related_disorders MTFMT-Related Disorders Supplemental_disease_name DISEASE_NAME:mthfd1_related_disorder MTHFD1-related disorder Supplemental_disease_name DISEASE_NAME:mthfr_related_disorder MTHFR-related disorder Supplemental_disease_name DISEASE_NAME:mthfr_thermolabile_polymorphism MTHFR THERMOLABILE POLYMORPHISM Supplemental_disease_name DISEASE_NAME:mthfs_related_disorder MTHFS-related disorder Supplemental_disease_name DISEASE_NAME:mtm1_related_disorder MTM1-related disorder Supplemental_disease_name DISEASE_NAME:mtmr14_related_disorder MTMR14-related disorder Supplemental_disease_name DISEASE_NAME:mtmr2_related_disorder MTMR2-related disorder Supplemental_disease_name DISEASE_NAME:mtmr7_related_disorder MTMR7-related disorder Supplemental_disease_name DISEASE_NAME:mtmr8_related_disorder MTMR8-related disorder Supplemental_disease_name DISEASE_NAME:mtnr1b_related_disorder MTNR1B-related disorder Supplemental_disease_name DISEASE_NAME:mto1_deficiency MTO1 deficiency Supplemental_disease_name DISEASE_NAME:mto1_related_disorder MTO1-related disorder Supplemental_disease_name DISEASE_NAME:mtor_inhibitor_response mTOR Inhibitor response Supplemental_disease_name DISEASE_NAME:mtor_related_disorder MTOR-related disorder Supplemental_disease_name DISEASE_NAME:mtor_related_megalencephaly_and_pigmentary_mosaicism_in_skin MTOR-related megalencephaly and pigmentary mosaicism in skin Supplemental_disease_name DISEASE_NAME:mtpap_related_disorder MTPAP-related disorder Supplemental_disease_name DISEASE_NAME:mtr_related_disorder MTR-related disorder Supplemental_disease_name DISEASE_NAME:mtrfr_related_disorder MTRFR-related disorder Supplemental_disease_name DISEASE_NAME:mtrr_related_disorder MTRR-related disorder Supplemental_disease_name DISEASE_NAME:mttp_related_disorder MTTP-related disorder Supplemental_disease_name DISEASE_NAME:muc16_related_disorder MUC16-related disorder Supplemental_disease_name DISEASE_NAME:muc1_related_disorder MUC1-related disorder Supplemental_disease_name DISEASE_NAME:muc21_related_disorder MUC21-related disorder Supplemental_disease_name DISEASE_NAME:muc4_related_condition MUC4-related condition Supplemental_disease_name DISEASE_NAME:muc4_related_disorder MUC4-related disorder Supplemental_disease_name DISEASE_NAME:muc5b_related_disorder MUC5B-related disorder Supplemental_disease_name DISEASE_NAME:muc6_related_disorder MUC6-related disorder Supplemental_disease_name DISEASE_NAME:mucocutaneous_ulceration Mucocutaneous ulceration Supplemental_disease_name DISEASE_NAME:mucocutaneous_ulceration_chronic Mucocutaneous ulceration, chronic Supplemental_disease_name DISEASE_NAME:mucolipidosis_iii_alpha_beta_atypical Mucolipidosis III alpha/beta, atypical Supplemental_disease_name DISEASE_NAME:mucolipidosis_type_ii Mucolipidosis type II Supplemental_disease_name DISEASE_NAME:mucolipidosis_type_ii_pseudo_hurler_polydystrophy Mucolipidosis type II;Pseudo-Hurler polydystrophy Supplemental_disease_name DISEASE_NAME:mucolipidosis_type_iv_lisch_epithelial_corneal_dystrophy Mucolipidosis type IV;Lisch epithelial corneal dystrophy Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_i_h_s Mucopolysaccharidosis, MPS-I-H/S Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_i_h_s_hurler_syndrome_mucopolysaccharidosis_mps_i_s Mucopolysaccharidosis, MPS-I-H/S;Hurler syndrome;Mucopolysaccharidosis, MPS-I-S Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_i_h_s_mucopolysaccharidosis_mps_i_s_hurler_syndrome Mucopolysaccharidosis, MPS-I-H/S;Mucopolysaccharidosis, MPS-I-S;Hurler syndrome Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_i_s Mucopolysaccharidosis, MPS-I-S Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_i_s_hurler_syndrome_mucopolysaccharidosis_mps_i_h_s Mucopolysaccharidosis, MPS-I-S;Hurler syndrome;Mucopolysaccharidosis, MPS-I-H/S Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_i_s_mucopolysaccharidosis_mps_i_h_s_hurler_syndrome Mucopolysaccharidosis, MPS-I-S;Mucopolysaccharidosis, MPS-I-H/S;Hurler syndrome Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iii_a Mucopolysaccharidosis, MPS-III-A Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iii_b Mucopolysaccharidosis, MPS-III-B Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iii_b_charcot_marie_tooth_disease_axonal_type_2v Mucopolysaccharidosis, MPS-III-B;Charcot-Marie-Tooth disease axonal type 2V Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iii_c Mucopolysaccharidosis, MPS-III-C Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iii_c_retinitis_pigmentosa_73 Mucopolysaccharidosis, MPS-III-C;Retinitis pigmentosa 73 Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iii_d Mucopolysaccharidosis, MPS-III-D Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iv_a Mucopolysaccharidosis, MPS-IV-A Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iv_b Mucopolysaccharidosis, MPS-IV-B Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iv_b_gm1_gangliosidosis Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iv_b_gm1_gangliosidosis_type_2_gm1_gangliosidosis_type_3_infantile_gm1_gangliosidosis Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iv_b_gm1_gangliosidosis_type_2_infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_3 Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3 Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iv_b_infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_2_gm1_gangliosidosis_type_3 Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2;GM1 gangliosidosis type 3 Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_mps_iv_b_infantile_gm1_gangliosidosis_gm1_gangliosidosis_type_3_gm1_gangliosidosis_type_2 Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;GM1 gangliosidosis type 2 Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_plus_syndrome Mucopolysaccharidosis-plus syndrome Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_10 Mucopolysaccharidosis, type 10 Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_1_hurler_syndrome Mucopolysaccharidosis type 1;Hurler syndrome Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_2_severe_form Mucopolysaccharidosis type 2, severe form Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_6 Mucopolysaccharidosis type 6 Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_7 Mucopolysaccharidosis type 7 Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_ii_mild_form Mucopolysaccharidosis, type II, mild form Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_vi_intermediate Mucopolysaccharidosis, type vi, intermediate Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_vi_mild Mucopolysaccharidosis, type vi, mild Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_vi_severe Mucopolysaccharidosis, type vi, severe Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosistype_iiib Mucopolysaccharidosistype IIIB Supplemental_disease_name DISEASE_NAME:mucosa_associated_lymphoma Mucosa-associated lymphoma Supplemental_disease_name DISEASE_NAME:muggenthaler_chowdhury_chioza_syndrome Muggenthaler-Chowdhury-Chioza syndrome Supplemental_disease_name DISEASE_NAME:muir_torré_syndrome Muir-Torré syndrome Supplemental_disease_name DISEASE_NAME:muir_torré_syndrome_colorectal_cancer_hereditary_nonpolyposis_type_2 Muir-Torré syndrome;Colorectal cancer, hereditary nonpolyposis, type 2 Supplemental_disease_name DISEASE_NAME:muir_torré_syndrome_colorectal_cancer_hereditary_nonpolyposis_type_2_mismatch_repair_cancer_syndrome_1 Muir-Torré syndrome;Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome 1 Supplemental_disease_name DISEASE_NAME:muir_torré_syndrome_lynch_syndrome Muir-Torré syndrome;Lynch syndrome Supplemental_disease_name DISEASE_NAME:muir_torré_syndrome_lynch_syndrome_1_mismatch_repair_cancer_syndrome_2 Muir-Torré syndrome;Lynch syndrome 1;Mismatch repair cancer syndrome 2 Supplemental_disease_name DISEASE_NAME:muir_torré_syndrome_mismatch_repair_cancer_syndrome_1_colorectal_cancer_hereditary_nonpolyposis_type_2 Muir-Torré syndrome;Mismatch repair cancer syndrome 1;Colorectal cancer, hereditary nonpolyposis, type 2 Supplemental_disease_name DISEASE_NAME:muir_torré_syndrome_mismatch_repair_cancer_syndrome_2_lynch_syndrome_1 Muir-Torré syndrome;Mismatch repair cancer syndrome 2;Lynch syndrome 1 Supplemental_disease_name DISEASE_NAME:mulibrey_nanism_syndrome Mulibrey nanism syndrome Supplemental_disease_name DISEASE_NAME:mullegama_klein_martinez_syndrome_holoprosencephaly_13_x_linked Mullegama-Klein-Martinez syndrome;Holoprosencephaly 13, X-linked Supplemental_disease_name DISEASE_NAME:mullerian_aplasia_and_hyperandrogenism_serkal_syndrome Mullerian aplasia and hyperandrogenism;SERKAL syndrome Supplemental_disease_name DISEASE_NAME:multi_minicore_disease_and_atypical_periodic_paralysis Multi-minicore disease and atypical periodic paralysis Supplemental_disease_name DISEASE_NAME:multicentric_carpo_tarsal_osteolysis_with_or_without_nephropathy_duane_retraction_syndrome_3_with_or_without_deafness Multicentric carpo-tarsal osteolysis with or without nephropathy;Duane retraction syndrome 3 with or without deafness Supplemental_disease_name DISEASE_NAME:multicentric_osteolysis_nodulosis_and_arthropathy Multicentric osteolysis, nodulosis, and arthropathy Supplemental_disease_name DISEASE_NAME:multicentric_osteolysis_nodulosis_arthropathy_spectrum Multicentric osteolysis nodulosis arthropathy spectrum Supplemental_disease_name DISEASE_NAME:multicystic_kidney_dysplasia_polycystic_kidney_disease Multicystic kidney dysplasia;Polycystic kidney disease Supplemental_disease_name DISEASE_NAME:multicystic_kidney_dysplasia_polycystic_liver_disease_1_polycystic_kidney_disease Multicystic kidney dysplasia;Polycystic liver disease 1;Polycystic kidney disease Supplemental_disease_name DISEASE_NAME:multifocal_breast_carcinoma Multifocal breast carcinoma Supplemental_disease_name DISEASE_NAME:multifocal_pattern_dystrophy_simulating_fundus_flavimaculatus Multifocal pattern dystrophy simulating fundus flavimaculatus Supplemental_disease_name DISEASE_NAME:multilineage_dysplasia multilineage dysplasia Supplemental_disease_name DISEASE_NAME:multiminicore_minicore_multicore_disease Multiminicore/minicore/multicore disease Supplemental_disease_name DISEASE_NAME:multiminicore_myopathy Multiminicore myopathy Supplemental_disease_name DISEASE_NAME:multiminicore_myopathy_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_malignant_hyperthermia_susceptibility_to_1_myopathy_ryr1_associated Multiminicore myopathy;Central core myopathy;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;Myopathy, RYR1-associated Supplemental_disease_name DISEASE_NAME:multiminicore_myopathy_malignant_hyperthermia_susceptibility_to_1_central_core_myopathy_congenital_myopathy_with_fiber_type_disproportion_autosomal_dominant_centronuclear_myopathy Multiminicore myopathy;Malignant hyperthermia, susceptibility to, 1;Central core myopathy;Congenital myopathy with fiber type disproportion;Autosomal dominant centronuclear myopathy Supplemental_disease_name DISEASE_NAME:multinucleated_neurons_anhydramnios_renal_dysplasia_cerebellar_hypoplasia_hydranencephaly_syndrome Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Supplemental_disease_name DISEASE_NAME:multiple_acyl_coa_dehydrogenase_deficiency_severe_neonatal_type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Supplemental_disease_name DISEASE_NAME:multiple_benign_circumferential_skin_creases_on_limbs_1 Multiple benign circumferential skin creases on limbs 1 Supplemental_disease_name DISEASE_NAME:multiple_benign_circumferential_skin_creases_on_limbs_1_complex_cortical_dysplasia_with_other_brain_malformations_6 Multiple benign circumferential skin creases on limbs 1;Complex cortical dysplasia with other brain malformations 6 Supplemental_disease_name DISEASE_NAME:multiple_cancers Multiple cancers Supplemental_disease_name DISEASE_NAME:multiple_congenital_anomalies Multiple congenital anomalies Supplemental_disease_name DISEASE_NAME:multiple_congenital_anomalies_corpus_callosum_agenesis_of_autism_spectrum_disorder_due_to_auts2_deficiency Multiple congenital anomalies;Corpus callosum, agenesis of;Autism spectrum disorder due to AUTS2 deficiency Supplemental_disease_name DISEASE_NAME:multiple_congenital_anomalies_developmental_delay_distinctive_facial_features Multiple congenital anomalies;Developmental delay;Distinctive facial features Supplemental_disease_name DISEASE_NAME:multiple_congenital_anomalies_dysmorphic_syndrome Multiple congenital anomalies/dysmorphic syndrome Supplemental_disease_name DISEASE_NAME:multiple_congenital_anomalies_dysmorphic_syndrome_intellectual_disability Multiple congenital anomalies/dysmorphic syndrome-intellectual disability Supplemental_disease_name DISEASE_NAME:multiple_congenital_anomalies_hypotonia_seizures_syndrome_2_neurodevelopmental_disorder_with_epilepsy_and_hemochromatosis Multiple congenital anomalies-hypotonia-seizures syndrome 2;Neurodevelopmental disorder with epilepsy and hemochromatosis Supplemental_disease_name DISEASE_NAME:multiple_congenital_anomalies_hypotonia_seizures_syndrome_3_paroxysmal_nocturnal_hemoglobinuria_2 Multiple congenital anomalies-hypotonia-seizures syndrome 3;Paroxysmal nocturnal hemoglobinuria 2 Supplemental_disease_name DISEASE_NAME:multiple_congenital_anomalies_neurodevelopmental_syndrome_x_linked Multiple congenital anomalies-neurodevelopmental syndrome, X-linked Supplemental_disease_name DISEASE_NAME:multiple_cutaneous_and_mucosal_venous_malformations_glaucoma_3_primary_infantile_b_glaucoma_3_primary_congenital_e Multiple cutaneous and mucosal venous malformations;Glaucoma 3, primary infantile, B;Glaucoma 3, primary congenital, E Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_1_gigantism Multiple endocrine neoplasia, type 1;Gigantism Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2 Multiple endocrine neoplasia, type 2 Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2_aganglionic_megacolon Multiple endocrine neoplasia, type 2;Aganglionic megacolon Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2_hirschsprung_disease_susceptibility_to_1 Multiple endocrine neoplasia, type 2;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1 Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_pheochromocytoma Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_pheochromocytoma_familial_medullary_thyroid_carcinoma Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Pheochromocytoma;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_pheochromocytoma_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2b Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_pheochromocytoma_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1_pheochromocytoma Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_pheochromocytoma_hirschsprung_disease_susceptibility_to_1 Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Pheochromocytoma;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_pheochromocytoma_hirschsprung_disease_susceptibility_to_1_familial_medullary_thyroid_carcinoma Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Pheochromocytoma;Hirschsprung disease, susceptibility to, 1;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_pheochromocytoma_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2b_hirschsprung_disease_susceptibility_to_1 Multiple endocrine neoplasia type 2A;Pheochromocytoma;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2B;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2a_pheochromocytoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma Multiple endocrine neoplasia type 2A;Pheochromocytoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a_pheochromocytoma Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1_pheochromocytoma_multiple_endocrine_neoplasia_type_2a Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_pheochromocytoma Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_pheochromocytoma_hirschsprung_disease_susceptibility_to_1 Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Pheochromocytoma;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_hirschsprung_disease_susceptibility_to_1_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_pheochromocytoma Multiple endocrine neoplasia type 2B;Hirschsprung disease, susceptibility to, 1;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a_pheochromocytoma_familial_medullary_thyroid_carcinoma Multiple endocrine neoplasia type 2B;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A;Pheochromocytoma;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_hirschsprung_disease_susceptibility_to_1_pheochromocytoma_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a Multiple endocrine neoplasia type 2B;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_hirschsprung_disease_susceptibility_to_1_pheochromocytoma_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma Multiple endocrine neoplasia type 2B;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1_pheochromocytoma Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_pheochromocytoma_familial_medullary_thyroid_carcinoma Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Pheochromocytoma;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a_pheochromocytoma Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_pheochromocytoma_familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a Multiple endocrine neoplasia type 2B;Pheochromocytoma;Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_pheochromocytoma_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a Multiple endocrine neoplasia type 2B;Pheochromocytoma;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_pheochromocytoma_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1 Multiple endocrine neoplasia type 2B;Pheochromocytoma;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_pheochromocytoma_hirschsprung_disease_susceptibility_to_1_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a Multiple endocrine neoplasia type 2B;Pheochromocytoma;Hirschsprung disease, susceptibility to, 1;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2b_pheochromocytoma_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1 Multiple endocrine neoplasia type 2B;Pheochromocytoma;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_iia_with_hirschsprung_disease MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_iia_without_pheochromocytoma MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_al_gazali_type Multiple epiphyseal dysplasia, Al-Gazali type Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_al_gazali_type_acrocallosal_syndrome_hydrolethalus_syndrome_2 Multiple epiphyseal dysplasia, Al-Gazali type;Acrocallosal syndrome;Hydrolethalus syndrome 2 Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_al_gazali_type_hydrolethalus_syndrome_2_acrocallosal_syndrome Multiple epiphyseal dysplasia, Al-Gazali type;Hydrolethalus syndrome 2;Acrocallosal syndrome Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_1 Multiple epiphyseal dysplasia type 1 Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_1_carpal_tunnel_syndrome_2_pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome Multiple epiphyseal dysplasia type 1;Carpal tunnel syndrome 2;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_1_pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome Multiple epiphyseal dysplasia type 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_4 Multiple epiphyseal dysplasia type 4 Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_4_achondrogenesis_type_ib_atelosteogenesis_type_ii_diastrophic_dysplasia Multiple epiphyseal dysplasia type 4;Achondrogenesis, type IB;Atelosteogenesis type II;Diastrophic dysplasia Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_4_achondrogenesis_type_ib_diastrophic_dysplasia_atelosteogenesis_type_ii Multiple epiphyseal dysplasia type 4;Achondrogenesis, type IB;Diastrophic dysplasia;Atelosteogenesis type II Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_4_atelosteogenesis_type_ii_achondrogenesis_type_ib_diastrophic_dysplasia Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II;Achondrogenesis, type IB;Diastrophic dysplasia Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_4_atelosteogenesis_type_ii_diastrophic_dysplasia_achondrogenesis_type_ib Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II;Diastrophic dysplasia;Achondrogenesis, type IB Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_4_diastrophic_dysplasia_achondrogenesis_type_ib_atelosteogenesis_type_ii Multiple epiphyseal dysplasia type 4;Diastrophic dysplasia;Achondrogenesis, type IB;Atelosteogenesis type II Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_4_diastrophic_dysplasia_atelosteogenesis_type_ii_achondrogenesis_type_ib Multiple epiphyseal dysplasia type 4;Diastrophic dysplasia;Atelosteogenesis type II;Achondrogenesis, type IB Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_5 Multiple epiphyseal dysplasia type 5 Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_5_spondyloepimetaphyseal_dysplasia_matrilin_3_type Multiple epiphyseal dysplasia type 5;Spondyloepimetaphyseal dysplasia, matrilin-3 type Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_5_spondyloepimetaphyseal_dysplasia_matrilin_3_type_osteoarthritis_susceptibility_2 Multiple epiphyseal dysplasia type 5;Spondyloepimetaphyseal dysplasia, matrilin-3 type;Osteoarthritis susceptibility 2 Supplemental_disease_name DISEASE_NAME:multiple_fibroadenoma_of_the_breast Multiple fibroadenoma of the breast Supplemental_disease_name DISEASE_NAME:multiple_fibroadenoma_of_the_breast_familial_hyperprolactinemia Multiple fibroadenoma of the breast;Familial hyperprolactinemia Supplemental_disease_name DISEASE_NAME:multiple_fibrofolliculomas Multiple fibrofolliculomas Supplemental_disease_name DISEASE_NAME:multiple_joint_contractures Multiple joint contractures Supplemental_disease_name DISEASE_NAME:multiple_joint_contractures_hydrops_fetalis_abnormal_facial_shape Multiple joint contractures;Hydrops fetalis;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:multiple_joint_contractures_polyhydramnios Multiple joint contractures;Polyhydramnios Supplemental_disease_name DISEASE_NAME:multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_with_congenital_heart_defects MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS Supplemental_disease_name DISEASE_NAME:multiple_joint_dislocations_short_stature_and_craniofacial_dysmorphism_without_congenital_heart_defects MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS Supplemental_disease_name DISEASE_NAME:multiple_mitochondrial_dysfunctions_syndrome_1_spastic_paraplegia_93_autosomal_recessive Multiple mitochondrial dysfunctions syndrome 1;Spastic paraplegia 93, autosomal recessive Supplemental_disease_name DISEASE_NAME:multiple_mitochondrial_dysfunctions_syndrome_3_hereditary_spastic_paraplegia_74 Multiple mitochondrial dysfunctions syndrome 3;Hereditary spastic paraplegia 74 Supplemental_disease_name DISEASE_NAME:multiple_mitochondrial_dysfunctions_syndrome_9b_auditory_neuropathy_optic_atrophy_syndrome Multiple mitochondrial dysfunctions syndrome 9b;Auditory neuropathy-optic atrophy syndrome Supplemental_disease_name DISEASE_NAME:multiple_monogenic_benign_skin_tumours Multiple monogenic benign skin tumours Supplemental_disease_name DISEASE_NAME:multiple_morphological_anomalies_of_sperm_flagella_mmaf Multiple Morphological Anomalies of Sperm Flagella (MMAF) Supplemental_disease_name DISEASE_NAME:multiple_myeloma_dna_ligase_iv_deficiency Multiple myeloma;DNA ligase IV deficiency Supplemental_disease_name DISEASE_NAME:multiple_myeloma_predisposition Multiple Myeloma Predisposition Supplemental_disease_name DISEASE_NAME:multiple_myeloma_resistance_to Multiple myeloma, resistance to Supplemental_disease_name DISEASE_NAME:multiple_myeloma_t_11_14_type_susceptibility_to MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:multiple_neoplasia Multiple neoplasia Supplemental_disease_name DISEASE_NAME:multiple_prenatal_fractures_skeletal_dysplasia Multiple prenatal fractures;Skeletal dysplasia Supplemental_disease_name DISEASE_NAME:multiple_renal_cysts_anhydramnios Multiple renal cysts;Anhydramnios Supplemental_disease_name DISEASE_NAME:multiple_renal_cysts_enlarged_kidney_anhydramnios Multiple renal cysts;Enlarged kidney;Anhydramnios Supplemental_disease_name DISEASE_NAME:multiple_renal_cysts_hydrocele_testis Multiple renal cysts;Hydrocele testis Supplemental_disease_name DISEASE_NAME:multiple_renal_cysts_hypertensive_disorder Multiple renal cysts;Hypertensive disorder Supplemental_disease_name DISEASE_NAME:multiple_renal_cysts_pancreatic_cysts_hepatic_cysts Multiple renal cysts;Pancreatic cysts;Hepatic cysts Supplemental_disease_name DISEASE_NAME:multiple_renal_cysts_reduced_renal_corticomedullary_differentiation_enlarged_kidney Multiple renal cysts;Reduced renal corticomedullary differentiation;Enlarged kidney Supplemental_disease_name DISEASE_NAME:multiple_renal_cysts_reduced_renal_corticomedullary_differentiation_renal_hypoplasia Multiple renal cysts;Reduced renal corticomedullary differentiation;Renal hypoplasia Supplemental_disease_name DISEASE_NAME:multiple_sclerosis_modifier_of_disease_progression Multiple sclerosis modifier of disease progression Supplemental_disease_name DISEASE_NAME:multiple_sclerosis_susceptibility_to Multiple sclerosis, susceptibility to Supplemental_disease_name DISEASE_NAME:multiple_sclerosis_susceptibility_to_1 Multiple sclerosis, susceptibility to 1 Supplemental_disease_name DISEASE_NAME:multiple_sclerosis_susceptibility_to_3 Multiple sclerosis, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:multiple_sclerosis_susceptibility_to_5 Multiple sclerosis, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:multiple_sclerosis_susceptibility_to_5_tnf_receptor_associated_periodic_fever_syndrome_traps Multiple sclerosis, susceptibility to, 5;TNF receptor-associated periodic fever syndrome (TRAPS) Supplemental_disease_name DISEASE_NAME:multiple_self_healing_squamous_epithelioma Multiple self-healing squamous epithelioma Supplemental_disease_name DISEASE_NAME:multiple_self_healing_squamous_epithelioma_familial_thoracic_aortic_aneurysm_and_aortic_dissection_loeys_dietz_syndrome_1 Multiple self-healing squamous epithelioma;Familial thoracic aortic aneurysm and aortic dissection;Loeys-Dietz syndrome 1 Supplemental_disease_name DISEASE_NAME:multiple_self_healing_squamous_epithelioma_loeys_dietz_syndrome_1 Multiple self-healing squamous epithelioma;Loeys-Dietz syndrome 1 Supplemental_disease_name DISEASE_NAME:multiple_sulfatase_deficiency Multiple sulfatase deficiency Supplemental_disease_name DISEASE_NAME:multiple_symmetric_lipomatosis_charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b Multiple symmetric lipomatosis;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Supplemental_disease_name DISEASE_NAME:multiple_symmetric_lipomatosis_charcot_marie_tooth_disease_type_2a2_charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b_neuropathy_hereditary_motor_and_sensory_type_6a Multiple symmetric lipomatosis;Charcot-Marie-Tooth disease type 2A2;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;;Neuropathy, hereditary motor and sensory, type 6A Supplemental_disease_name DISEASE_NAME:multiple_system_atrophy_1_susceptibility_to Multiple system atrophy 1, susceptibility to Supplemental_disease_name DISEASE_NAME:multiple_system_atrophy_1_susceptibility_to_coenzyme_q10_deficiency_primary_1 Multiple system atrophy 1, susceptibility to;Coenzyme Q10 deficiency, primary, 1 Supplemental_disease_name DISEASE_NAME:multiple_system_atrophy_cerebellar_type Multiple system atrophy, cerebellar type Supplemental_disease_name DISEASE_NAME:multiple_types_of_congenital_heart_defects multiple types of congenital heart defects Supplemental_disease_name DISEASE_NAME:multisystem_developmental_disorder Multisystem developmental disorder Supplemental_disease_name DISEASE_NAME:multisystem_disorder Multisystem disorder Supplemental_disease_name DISEASE_NAME:multisystemic_smooth_muscle_dysfunction_syndrome Multisystemic smooth muscle dysfunction syndrome Supplemental_disease_name DISEASE_NAME:multisystemic_smooth_muscle_dysfunction_syndrome_aortic_aneurysm_familial_thoracic_6 Multisystemic smooth muscle dysfunction syndrome;Aortic aneurysm, familial thoracic 6 Supplemental_disease_name DISEASE_NAME:multisystemic_smooth_muscle_dysfunction_syndrome_aortic_aneurysm_familial_thoracic_6_moyamoya_disease_5 Multisystemic smooth muscle dysfunction syndrome;Aortic aneurysm, familial thoracic 6;Moyamoya disease 5 Supplemental_disease_name DISEASE_NAME:multisystemic_smooth_muscle_dysfunction_syndrome_moyamoya_disease_5_aortic_aneurysm_familial_thoracic_6 Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5;Aortic aneurysm, familial thoracic 6 Supplemental_disease_name DISEASE_NAME:mungan_syndrome Mungan syndrome Supplemental_disease_name DISEASE_NAME:mungan_syndrome_cornelia_de_lange_syndrome_4 Mungan syndrome;Cornelia de Lange syndrome 4 Supplemental_disease_name DISEASE_NAME:muscle_amp_deaminase_deficiency Muscle AMP deaminase deficiency Supplemental_disease_name DISEASE_NAME:muscle_amp_deaminase_deficiency_hypercholesterolemia_autosomal_dominant_type_b Muscle AMP deaminase deficiency;Hypercholesterolemia, autosomal dominant, type B Supplemental_disease_name DISEASE_NAME:muscle_dystrophy Muscle dystrophy Supplemental_disease_name DISEASE_NAME:muscle_eye_brain_disease Muscle eye brain disease Supplemental_disease_name DISEASE_NAME:muscle_eye_brain_disease_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_retinitis_pigmentosa_76_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o Muscle eye brain disease;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O Supplemental_disease_name DISEASE_NAME:muscle_eye_brain_disease_retinitis_pigmentosa_76_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3 Muscle eye brain disease;Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Supplemental_disease_name DISEASE_NAME:muscle_spasm Muscle spasm Supplemental_disease_name DISEASE_NAME:muscle_tissue_disorder Muscle tissue disorder Supplemental_disease_name DISEASE_NAME:muscle_weakness Muscle weakness Supplemental_disease_name DISEASE_NAME:muscle_weakness_cardiac_arrhythmia_lower_limb_joint_contracture_elbow_flexion_contracture_muscular_dystrophy Muscle weakness;Cardiac arrhythmia;Lower-limb joint contracture;Elbow flexion contracture;Muscular dystrophy Supplemental_disease_name DISEASE_NAME:muscle_weakness_hypokalemia_hypermagnesemia_myalgia Muscle weakness;Hypokalemia;Hypermagnesemia;Myalgia Supplemental_disease_name DISEASE_NAME:muscle_weakness_lower_limb_joint_contracture_muscular_dystrophy_elbow_flexion_contracture_cardiac_arrhythmia Muscle weakness;Lower-limb joint contracture;Muscular dystrophy;Elbow flexion contracture;Cardiac arrhythmia Supplemental_disease_name DISEASE_NAME:muscle_weakness_myopathy Muscle weakness;Myopathy Supplemental_disease_name DISEASE_NAME:muscle_weakness_myopathy_absent_achilles_reflex Muscle weakness;Myopathy;Absent Achilles reflex Supplemental_disease_name DISEASE_NAME:muscle_weakness_respiratory_distress Muscle weakness;Respiratory distress Supplemental_disease_name DISEASE_NAME:muscle_weakness_sensorimotor_neuropathy Muscle weakness;Sensorimotor neuropathy Supplemental_disease_name DISEASE_NAME:muscular_atrophy_skeletal_contractures Muscular atrophy;skeletal contractures Supplemental_disease_name DISEASE_NAME:muscular_channelopathy Muscular channelopathy Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_adult_onset_with_leukoencephalopathy Muscular dystrophy, adult-onset, with leukoencephalopathy Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_and_arthrogryposis Muscular dystrophy and arthrogryposis Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_congenital_hearing_loss_and_ovarian_insufficiency_syndrome Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_congenital_merosin_deficient_or_partially_deficient Muscular dystrophy, congenital, merosin deficient or partially deficient Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_congenital_with_or_without_seizures Muscular dystrophy, congenital, with or without seizures Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_congenital_with_rapid_progression Muscular dystrophy, congenital, with rapid progression Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a13 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a14_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2t_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14;Autosomal recessive limb-girdle muscular dystrophy type 2T;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a14_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b14_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2t Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14;Autosomal recessive limb-girdle muscular dystrophy type 2T Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_type_b5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy type B5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_type_b5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2K;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2M;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_type_b5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy type B5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_type_b5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1;Autosomal recessive limb-girdle muscular dystrophy type 2K Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_type_b5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_type_b6_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a6 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy type B6;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_retinitis_pigmentosa_76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_retinitis_pigmentosa_76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Retinitis pigmentosa 76 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_pomgnt1_related_disorder Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;POMGNT1-related disorder Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_retinitis_pigmentosa_76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_retinitis_pigmentosa_76_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_retinitis_pigmentosa_76_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_type_b5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy type B5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_type_b5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_type_b5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy type B5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_type_b5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_type_b5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_type_b5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a6 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a6_muscular_dystrophy_dystroglycanopathy_type_b6 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a6_muscular_dystrophy_dystroglycanopathy_type_b6_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a9 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a9_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2p Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9;Autosomal recessive limb-girdle muscular dystrophy type 2P Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_10 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_11 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_12 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_12_limb_girdle_muscular_dystrophy_due_to_pomk_deficiency Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Limb-girdle muscular dystrophy due to POMK deficiency Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_dilated_cardiomyopathy_1x_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_7 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_7_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2u Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_8 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_impaired_intellectual_development_type_b_15 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b14_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2t Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14;Autosomal recessive limb-girdle muscular dystrophy type 2T Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b14_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2t_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a14 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14;Autosomal recessive limb-girdle muscular dystrophy type 2T;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b14_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a14_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2t Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14;Autosomal recessive limb-girdle muscular dystrophy type 2T Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1;Autosomal recessive limb-girdle muscular dystrophy type 2K;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k_walker_warburg_congenital_muscular_dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1;Autosomal recessive limb-girdle muscular dystrophy type 2K;Walker-Warburg congenital muscular dystrophy Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2K Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1_walker_warburg_congenital_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1;Walker-Warburg congenital muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2K Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b2_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a2_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2n Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Autosomal recessive limb-girdle muscular dystrophy type 2N Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_retinitis_pigmentosa_76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_retinitis_pigmentosa_76_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_retinitis_pigmentosa_76_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_impaired_intellectual_development_type_b_5 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_dilated_cardiomyopathy_1x Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Dilated cardiomyopathy 1X Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_dilated_cardiomyopathy_1x_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_congenital_without_intellectual_disability_type_b4_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_4_dilated_cardiomyopathy_1x_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2m Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_limb_girdle_type_c_8_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_8 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_type_b5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5 Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_type_b5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5 Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_type_b5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1 Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_type_b5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5 Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_type_b5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Autosomal recessive limb-girdle muscular dystrophy type 2I Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_type_b5_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a5_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2i Muscular dystrophy-dystroglycanopathy type B5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Autosomal recessive limb-girdle muscular dystrophy type 2I Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_type_b6_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a1_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a6 Muscular dystrophy-dystroglycanopathy type B6;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_type_b6_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a6 Muscular dystrophy-dystroglycanopathy type B6;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_dystroglycanopathy_type_c Muscular dystrophy-dystroglycanopathy, type C Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_dominant Muscular dystrophy, limb-girdle, autosomal dominant Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_dominant_4 Muscular dystrophy, limb-girdle, autosomal dominant 4 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_dominant_4_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2a Muscular dystrophy, limb-girdle, autosomal dominant 4;Autosomal recessive limb-girdle muscular dystrophy type 2A Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_recessive_23 Muscular dystrophy, limb-girdle, autosomal recessive 23 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_recessive_23_lama2_related_muscular_dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23;LAMA2-related muscular dystrophy Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_recessive_23_merosin_deficient_congenital_muscular_dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin deficient congenital muscular dystrophy Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_recessive_26 Muscular dystrophy, limb-girdle, autosomal recessive 26 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_recessive_27 Muscular dystrophy, limb-girdle, autosomal recessive 27 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_recessive_28 Muscular dystrophy, limb-girdle, autosomal recessive 28 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_recessive_29 Muscular dystrophy, limb-girdle, autosomal recessive 29 Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_limb_girdle_autosomal_recessive_6_digenic MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC Supplemental_disease_name DISEASE_NAME:muscular_dystrophy_progressive_proximal_muscle_weakness_limb_pain Muscular dystrophy;Progressive proximal muscle weakness;Limb pain Supplemental_disease_name DISEASE_NAME:musculoskeletal_system_issues musculoskeletal system issues Supplemental_disease_name DISEASE_NAME:musk_related_disorder MUSK-related disorder Supplemental_disease_name DISEASE_NAME:mutilating_keratoderma Mutilating keratoderma Supplemental_disease_name DISEASE_NAME:mutilating_keratoderma_knuckle_pads_deafness_and_leukonychia_syndrome_palmoplantar_keratoderma_deafness_syndrome Mutilating keratoderma;Knuckle pads, deafness AND leukonychia syndrome;Palmoplantar keratoderma-deafness syndrome Supplemental_disease_name DISEASE_NAME:mutilating_keratoderma_palmoplantar_keratoderma_deafness_syndrome_knuckle_pads_deafness_and_leukonychia_syndrome Mutilating keratoderma;Palmoplantar keratoderma-deafness syndrome;Knuckle pads, deafness AND leukonychia syndrome Supplemental_disease_name DISEASE_NAME:mutyh_related_breast_cancer MUTYH-related Breast Cancer Supplemental_disease_name DISEASE_NAME:mutyh_related_disorder MUTYH-related disorder Supplemental_disease_name DISEASE_NAME:mvb12b_related_disorder MVB12B-related disorder Supplemental_disease_name DISEASE_NAME:mvd_related_disorder MVD-related disorder Supplemental_disease_name DISEASE_NAME:mvk_related_disorder MVK-related disorder Supplemental_disease_name DISEASE_NAME:mxi1_related_disorder MXI1-related disorder Supplemental_disease_name DISEASE_NAME:mxra5_related_disorder MXRA5-related disorder Supplemental_disease_name DISEASE_NAME:mxra8_related_disorder MXRA8-related disorder Supplemental_disease_name DISEASE_NAME:myalgia_exercise_induced_myalgia_elevated_circulating_creatine_kinase_activity Myalgia;Exercise-induced myalgia;Elevated circulating creatine kinase activity Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome Myasthenic syndrome Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_1b_fast_channel Myasthenic syndrome, congenital, 1B, fast-channel Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_1b_fast_channel_lethal_multiple_pterygium_syndrome Myasthenic syndrome, congenital, 1B, fast-channel;Lethal multiple pterygium syndrome Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_1b_fast_channel_lethal_multiple_pterygium_syndrome_congenital_myasthenic_syndrome_1a Myasthenic syndrome, congenital, 1B, fast-channel;Lethal multiple pterygium syndrome;Congenital myasthenic syndrome 1A Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_22 Myasthenic syndrome, congenital, 22 Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_22_cystinuria Myasthenic syndrome, congenital, 22;Cystinuria Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_23_presynaptic Myasthenic syndrome, congenital, 23, presynaptic Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_24_presynaptic Myasthenic syndrome, congenital, 24, presynaptic Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_25_presynaptic Myasthenic syndrome, congenital, 25, presynaptic Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_7b_presynaptic_autosomal_recessive Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive Supplemental_disease_name DISEASE_NAME:myasthenic_syndrome_congenital_7b_presynaptic_autosomal_recessive_congenital_myasthenic_syndrome_7 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive;Congenital myasthenic syndrome 7 Supplemental_disease_name DISEASE_NAME:myb_related_disorder MYB-related disorder Supplemental_disease_name DISEASE_NAME:mybbp1a_related_condition MYBBP1A-related condition Supplemental_disease_name DISEASE_NAME:mybl2_related_condition MYBL2-related condition Supplemental_disease_name DISEASE_NAME:mybpc1_related_autosomal_recessive_non_lethal_arthrogryposis_multiplex_congenita_syndrome MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Supplemental_disease_name DISEASE_NAME:mybpc1_related_disorder MYBPC1-related disorder Supplemental_disease_name DISEASE_NAME:mybpc2_related_disorder MYBPC2-related disorder Supplemental_disease_name DISEASE_NAME:mybpc3_related_cardiomyopathies MYBPC3-related cardiomyopathies Supplemental_disease_name DISEASE_NAME:mybpc3_related_cardiomyopathy MYBPC3-related cardiomyopathy Supplemental_disease_name DISEASE_NAME:mybpc3_related_disorder MYBPC3-related disorder Supplemental_disease_name DISEASE_NAME:myc_related_disorder MYC-related disorder Supplemental_disease_name DISEASE_NAME:mycbp2_associated_disorder MYCBP2-associated disorder Supplemental_disease_name DISEASE_NAME:mycbp2_associated_neurodevelopmental_disorder MYCBP2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:mycbp2_related_developmental_delay_with_corpus_callosum_defects MYCBP2-related developmental delay with corpus callosum defects Supplemental_disease_name DISEASE_NAME:mycbp2_related_developmental_disorder MYCBP2-related developmental disorder Supplemental_disease_name DISEASE_NAME:mycbp2_related_disorder MYCBP2-related disorder Supplemental_disease_name DISEASE_NAME:mycbp2_related_neurodevelopmental_condition MYCBP2-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:mycbp2_related_neurodevelopmental_disorder MYCBP2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:mycn_related_disorder MYCN-related disorder Supplemental_disease_name DISEASE_NAME:mycobacterium_tuberculosis_protection_against Mycobacterium tuberculosis, protection against Supplemental_disease_name DISEASE_NAME:mycobacterium_tuberculosis_susceptibility_to Mycobacterium tuberculosis, susceptibility to Supplemental_disease_name DISEASE_NAME:mycobacterium_tuberculosis_susceptibility_to_colorectal_cancer_leprosy_susceptibility_to_3 Mycobacterium tuberculosis, susceptibility to;Colorectal cancer;Leprosy, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:mycobacterium_tuberculosis_susceptibility_to_dengue_virus_susceptibility_to_susceptibility_to_hiv_infection Mycobacterium tuberculosis, susceptibility to;Dengue virus, susceptibility to;Susceptibility to HIV infection Supplemental_disease_name DISEASE_NAME:mycobacterium_tuberculosis_susceptibility_to_hepatic_veno_occlusive_disease_immunodeficiency_syndrome Mycobacterium tuberculosis, susceptibility to;Hepatic veno-occlusive disease-immunodeficiency syndrome Supplemental_disease_name DISEASE_NAME:mycobacterium_tuberculosis_susceptibility_to_infection_by Mycobacterium tuberculosis, susceptibility to infection by Supplemental_disease_name DISEASE_NAME:mycotic_aneurysm_intracranial Mycotic Aneurysm, Intracranial Supplemental_disease_name DISEASE_NAME:myd88_related_disorder MYD88-related disorder Supplemental_disease_name DISEASE_NAME:myef2_related_condition MYEF2-related condition Supplemental_disease_name DISEASE_NAME:myelodysplasia Myelodysplasia Supplemental_disease_name DISEASE_NAME:myelodysplastic_syndrome_acute_myeloid_leukemia_deafness_lymphedema_leukemia_syndrome_monocytopenia_with_susceptibility_to_infections Myelodysplastic syndrome;Acute myeloid leukemia;Deafness-lymphedema-leukemia syndrome;Monocytopenia with susceptibility to infections Supplemental_disease_name DISEASE_NAME:myelodysplastic_syndrome_associated_with_isolated_del_5q Myelodysplastic syndrome associated with isolated del(5q) Supplemental_disease_name DISEASE_NAME:myelodysplastic_syndrome_bohring_opitz_syndrome Myelodysplastic syndrome;Bohring-Opitz syndrome Supplemental_disease_name DISEASE_NAME:myelodysplastic_syndrome_deafness_lymphedema_leukemia_syndrome_monocytopenia_with_susceptibility_to_infections_acute_myeloid_leukemia Myelodysplastic syndrome;Deafness-lymphedema-leukemia syndrome;Monocytopenia with susceptibility to infections;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:myelodysplastic_syndrome_immunodeficiency_75 Myelodysplastic syndrome;Immunodeficiency 75 Supplemental_disease_name DISEASE_NAME:myelodysplastic_syndrome_monocytopenia_with_susceptibility_to_infections_acute_myeloid_leukemia_deafness_lymphedema_leukemia_syndrome Myelodysplastic syndrome;Monocytopenia with susceptibility to infections;Acute myeloid leukemia;Deafness-lymphedema-leukemia syndrome Supplemental_disease_name DISEASE_NAME:myelodysplastic_syndrome_monocytopenia_with_susceptibility_to_infections_deafness_lymphedema_leukemia_syndrome_acute_myeloid_leukemia Myelodysplastic syndrome;Monocytopenia with susceptibility to infections;Deafness-lymphedema-leukemia syndrome;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:myelodysplastic_syndrome_progressed_to_acute_myeloid_leukemia Myelodysplastic syndrome progressed to acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:myelodysplastic_syndrome_with_ring_sideroblasts Myelodysplastic syndrome with ring sideroblasts Supplemental_disease_name DISEASE_NAME:myelofibrosis_congenital_with_anemia_neutropenia_developmental_delay_and_ocular_abnormalities Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities Supplemental_disease_name DISEASE_NAME:myelofibrosis_with_myeloid_metaplasia Myelofibrosis with myeloid metaplasia Supplemental_disease_name DISEASE_NAME:myeloid_maturation_arrest_3_methylglutaric_aciduria_microcytic_anemia_3_methylglutaconic_aciduria Myeloid maturation arrest;3-Methylglutaric aciduria;Microcytic anemia;3-Methylglutaconic aciduria Supplemental_disease_name DISEASE_NAME:myeloid_neoplasm_associated_with_fgfr1_rearrangement Myeloid neoplasm associated with FGFR1 rearrangement Supplemental_disease_name DISEASE_NAME:myeloperoxidase_deficiency Myeloperoxidase deficiency Supplemental_disease_name DISEASE_NAME:myeloperoxidase_deficiency_alzheimer_disease_type_1 Myeloperoxidase deficiency;Alzheimer disease type 1 Supplemental_disease_name DISEASE_NAME:myeloproliferative_disorder Myeloproliferative disorder Supplemental_disease_name DISEASE_NAME:myeloproliferative_disorder_chronic_with_eosinophilia Myeloproliferative disorder, chronic, with eosinophilia Supplemental_disease_name DISEASE_NAME:myeloproliferative_lymphoproliferative_neoplasms Myeloproliferative/lymphoproliferative neoplasms Supplemental_disease_name DISEASE_NAME:myeloproliferative_neoplasm_unclassifiable Myeloproliferative neoplasm, unclassifiable Supplemental_disease_name DISEASE_NAME:myeloproliferative_neoplasms Myeloproliferative neoplasms Supplemental_disease_name DISEASE_NAME:myf5_related_disorder MYF5-related disorder Supplemental_disease_name DISEASE_NAME:myf6_related_disorder MYF6-related disorder Supplemental_disease_name DISEASE_NAME:myh10_related_disorder MYH10-related disorder Supplemental_disease_name DISEASE_NAME:myh10_related_neurodevelopmental_disorder MYH10-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:myh10_related_neurodevelopmental_disorder_with_congenital_anomalies MYH10-related neurodevelopmental disorder with congenital anomalies Supplemental_disease_name DISEASE_NAME:myh11_related_disorder MYH11-related disorder Supplemental_disease_name DISEASE_NAME:myh13_related_disorder MYH13-related disorder Supplemental_disease_name DISEASE_NAME:myh14_related_disorder MYH14-related disorder Supplemental_disease_name DISEASE_NAME:myh1_related_disorder MYH1-related disorder Supplemental_disease_name DISEASE_NAME:myh2_related_disorder MYH2-related disorder Supplemental_disease_name DISEASE_NAME:myh2_related_myopathy MYH2-related myopathy Supplemental_disease_name DISEASE_NAME:myh3_related_disorder MYH3-related disorder Supplemental_disease_name DISEASE_NAME:myh6_related_cardiac_defects MYH6-related cardiac defects Supplemental_disease_name DISEASE_NAME:myh6_related_cardiovascular_disease MYH6-related cardiovascular disease Supplemental_disease_name DISEASE_NAME:myh6_related_disorder MYH6-related disorder Supplemental_disease_name DISEASE_NAME:myh7_related_cardiomyopathy MYH7-related cardiomyopathy Supplemental_disease_name DISEASE_NAME:myh7_related_disorder MYH7-related disorder Supplemental_disease_name DISEASE_NAME:myh7_related_skeletal_myopathy MYH7-related skeletal myopathy Supplemental_disease_name DISEASE_NAME:myh7_related_skeletal_myopathy_dilated_cardiomyopathy_1s MYH7-related skeletal myopathy;Dilated cardiomyopathy 1S Supplemental_disease_name DISEASE_NAME:myh7_related_skeletal_myopathy_dilated_cardiomyopathy_1s_hypertrophic_cardiomyopathy_1_myosin_storage_myopathy_left_ventricular_noncompaction_1 MYH7-related skeletal myopathy;Dilated cardiomyopathy 1S;Hypertrophic cardiomyopathy 1;Myosin storage myopathy;Left ventricular noncompaction 1 Supplemental_disease_name DISEASE_NAME:myh7_related_skeletal_myopathy_dilated_cardiomyopathy_1s_myosin_storage_myopathy_myopathy_myosin_storage_autosomal_recessive_hypertrophic_cardiomyopathy_1 MYH7-related skeletal myopathy;Dilated cardiomyopathy 1S;Myosin storage myopathy;Myopathy, myosin storage, autosomal recessive;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:myh7_related_skeletal_myopathy_hypertrophic_cardiomyopathy_1_myosin_storage_myopathy MYH7-related skeletal myopathy;Hypertrophic cardiomyopathy 1;Myosin storage myopathy Supplemental_disease_name DISEASE_NAME:myh7_related_skeletal_myopathy_myopathy_myosin_storage_autosomal_recessive_myosin_storage_myopathy MYH7-related skeletal myopathy;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy Supplemental_disease_name DISEASE_NAME:myh7b_related_disorder MYH7B-related disorder Supplemental_disease_name DISEASE_NAME:myh7b_related_hypertrophic_cardiomyopathy MYH7B-related hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:myh8_related_disorder MYH8-related disorder Supplemental_disease_name DISEASE_NAME:myh9_related_disorder MYH9-related disorder Supplemental_disease_name DISEASE_NAME:myh_6_related_congenital_heart_defects MYH-6 related congenital heart defects Supplemental_disease_name DISEASE_NAME:myh_associated_polyposis MYH-associated polyposis Supplemental_disease_name DISEASE_NAME:myhre_syndrome Myhre syndrome Supplemental_disease_name DISEASE_NAME:myhre_syndrome_carcinoma_of_pancreas_generalized_juvenile_polyposis_juvenile_polyposis_coli_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Myhre syndrome;Carcinoma of pancreas;Generalized juvenile polyposis/juvenile polyposis coli;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:myhre_syndrome_carcinoma_of_pancreas_juvenile_polyposis_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Myhre syndrome;Carcinoma of pancreas;Juvenile polyposis syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:myhre_syndrome_generalized_juvenile_polyposis_juvenile_polyposis_coli_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_carcinoma_of_pancreas Myhre syndrome;Generalized juvenile polyposis/juvenile polyposis coli;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Carcinoma of pancreas Supplemental_disease_name DISEASE_NAME:myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_carcinoma_of_pancreas_juvenile_polyposis_syndrome Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Carcinoma of pancreas;Juvenile polyposis syndrome Supplemental_disease_name DISEASE_NAME:myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_familial_pancreatic_carcinoma_juvenile_polyposis_syndrome Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Familial pancreatic carcinoma;Juvenile polyposis syndrome Supplemental_disease_name DISEASE_NAME:myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_juvenile_polyposis_syndrome Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Juvenile polyposis syndrome Supplemental_disease_name DISEASE_NAME:myhre_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome_juvenile_polyposis_syndrome_carcinoma_of_pancreas Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Juvenile polyposis syndrome;Carcinoma of pancreas Supplemental_disease_name DISEASE_NAME:myhre_syndrome_juvenile_polyposis_syndrome_carcinoma_of_pancreas_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Myhre syndrome;Juvenile polyposis syndrome;Carcinoma of pancreas;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:myhre_syndrome_juvenile_polyposis_syndrome_juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome Myhre syndrome;Juvenile polyposis syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Supplemental_disease_name DISEASE_NAME:myl1_related_disorder MYL1-related disorder Supplemental_disease_name DISEASE_NAME:myl2_related_disorder MYL2-related disorder Supplemental_disease_name DISEASE_NAME:myl3_related_disorder MYL3-related disorder Supplemental_disease_name DISEASE_NAME:myl4_related_disorder MYL4-related disorder Supplemental_disease_name DISEASE_NAME:mylip_related_disorder MYLIP-related disorder Supplemental_disease_name DISEASE_NAME:mylk2_related_disorder MYLK2-related disorder Supplemental_disease_name DISEASE_NAME:mylk3_associated_cardiomyopathy MYLK3-associated cardiomyopathy Supplemental_disease_name DISEASE_NAME:mylk3_related_disorder MYLK3-related disorder Supplemental_disease_name DISEASE_NAME:mylk_related_disorder MYLK-related disorder Supplemental_disease_name DISEASE_NAME:mymk_related_disorder MYMK-related disorder Supplemental_disease_name DISEASE_NAME:myo15a_related_disorder MYO15A-related disorder Supplemental_disease_name DISEASE_NAME:myo16_associated_developmental_delay MYO16-associated developmental delay Supplemental_disease_name DISEASE_NAME:myo16_related_disorder MYO16-related disorder Supplemental_disease_name DISEASE_NAME:myo18a_related_disorder MYO18A-related disorder Supplemental_disease_name DISEASE_NAME:myo18b_related_disorder MYO18B-related disorder Supplemental_disease_name DISEASE_NAME:myo1a_related_disorder MYO1A-related disorder Supplemental_disease_name DISEASE_NAME:myo1c_related_disorder MYO1C-related disorder Supplemental_disease_name DISEASE_NAME:myo1e_related_disorder MYO1E-related disorder Supplemental_disease_name DISEASE_NAME:myo1f_related_disorder MYO1F-related disorder Supplemental_disease_name DISEASE_NAME:myo3a_related_disorder MYO3A-related disorder Supplemental_disease_name DISEASE_NAME:myo5a_related_disorder MYO5A-related disorder Supplemental_disease_name DISEASE_NAME:myo5b_related_disorder MYO5B-related disorder Supplemental_disease_name DISEASE_NAME:myo6_related_disorder MYO6-related disorder Supplemental_disease_name DISEASE_NAME:myo7a_related_disorder MYO7A-related disorder Supplemental_disease_name DISEASE_NAME:myo7b_related_disorder MYO7B-related disorder Supplemental_disease_name DISEASE_NAME:myo9a_related_disorder MYO9A-related disorder Supplemental_disease_name DISEASE_NAME:myo9b_related_disorder MYO9B-related disorder Supplemental_disease_name DISEASE_NAME:myoc_related_disorder MYOC-related disorder Supplemental_disease_name DISEASE_NAME:myocardial_fibrosis Myocardial fibrosis Supplemental_disease_name DISEASE_NAME:myocardial_infarction_decreased_susceptibility_to Myocardial infarction, decreased susceptibility to Supplemental_disease_name DISEASE_NAME:myocardial_infarction_protection_against Myocardial infarction, protection against Supplemental_disease_name DISEASE_NAME:myocardial_infarction_susceptibility_to Myocardial infarction, susceptibility to Supplemental_disease_name DISEASE_NAME:myocardial_infarction_susceptibility_to_1 Myocardial infarction, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:myocardial_infarction_susceptibility_to_bleeding_disorder_platelet_type_24_glanzmann_thrombasthenia_2 Myocardial infarction, susceptibility to;Bleeding disorder, platelet-type, 24;Glanzmann thrombasthenia 2 Supplemental_disease_name DISEASE_NAME:myocardial_infarction_susceptibility_to_congenital_factor_vii_deficiency Myocardial infarction, susceptibility to;Congenital factor VII deficiency Supplemental_disease_name DISEASE_NAME:myocardial_infarction_susceptibility_to_glanzmann_thrombasthenia_2_bleeding_disorder_platelet_type_24 Myocardial infarction, susceptibility to;Glanzmann thrombasthenia 2;Bleeding disorder, platelet-type, 24 Supplemental_disease_name DISEASE_NAME:myocardial_ischemia_reperfusion_injury Myocardial ischemia/reperfusion injury Supplemental_disease_name DISEASE_NAME:myocarditis_primary_dilated_cardiomyopathy Myocarditis;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:myocd_related_condition MYOCD-related condition Supplemental_disease_name DISEASE_NAME:myoclonic_absence_seizure Myoclonic absence seizure Supplemental_disease_name DISEASE_NAME:myoclonic_encephalopathy Myoclonic encephalopathy Supplemental_disease_name DISEASE_NAME:myoclonic_epilepsy_in_non_progressive_encephalopathies Myoclonic epilepsy in non-progressive encephalopathies Supplemental_disease_name DISEASE_NAME:myoclonic_epilepsy_juvenile_susceptibility_to_1 Myoclonic epilepsy, juvenile, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:myoclonic_epilepsy_juvenile_susceptibility_to_1_absence_seizure Myoclonic epilepsy, juvenile, susceptibility to, 1;Absence seizure Supplemental_disease_name DISEASE_NAME:myoclonic_epilepsy_juvenile_susceptibility_to_1_epilepsy_juvenile_absence_susceptibility_to_1 Myoclonic epilepsy, juvenile, susceptibility to, 1;Epilepsy, juvenile absence, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:myoclonic_epilepsy_juvenile_susceptibility_to_1_typical_absence_seizure Myoclonic epilepsy, juvenile, susceptibility to, 1;Typical absence seizure Supplemental_disease_name DISEASE_NAME:myoclonic_epilepsy_of_lafora_1 Myoclonic epilepsy of Lafora 1 Supplemental_disease_name DISEASE_NAME:myoclonic_epilepsy_of_lafora_2 Myoclonic epilepsy of Lafora 2 Supplemental_disease_name DISEASE_NAME:myoclonic_epilepsy_progressive_x_linked Myoclonic epilepsy, progressive, X-linked Supplemental_disease_name DISEASE_NAME:myoclonus Myoclonus Supplemental_disease_name DISEASE_NAME:myoclonus_dystonia_syndrome Myoclonus-dystonia syndrome Supplemental_disease_name DISEASE_NAME:myoclonus_familial Myoclonus, familial Supplemental_disease_name DISEASE_NAME:myoclonus_familial_1 Myoclonus, familial, 1 Supplemental_disease_name DISEASE_NAME:myoclonus_familial_2 Myoclonus, familial, 2 Supplemental_disease_name DISEASE_NAME:myoclonus_familial_2_cognitive_impairment_with_or_without_cerebellar_ataxia_developmental_and_epileptic_encephalopathy_13_seizures_benign_familial_infantile_5 Myoclonus, familial, 2;Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy, 13;Seizures, benign familial infantile, 5 Supplemental_disease_name DISEASE_NAME:myoclonus_familial_2_cognitive_impairment_with_or_without_cerebellar_ataxia_seizures_benign_familial_infantile_5_developmental_and_epileptic_encephalopathy_13 Myoclonus, familial, 2;Cognitive impairment with or without cerebellar ataxia;Seizures, benign familial infantile, 5;Developmental and epileptic encephalopathy, 13 Supplemental_disease_name DISEASE_NAME:myoclonus_familial_2_developmental_and_epileptic_encephalopathy_13_cognitive_impairment_with_or_without_cerebellar_ataxia_seizures_benign_familial_infantile_5 Myoclonus, familial, 2;Developmental and epileptic encephalopathy, 13;Cognitive impairment with or without cerebellar ataxia;Seizures, benign familial infantile, 5 Supplemental_disease_name DISEASE_NAME:myoclonus_familial_2_developmental_and_epileptic_encephalopathy_13_seizures_benign_familial_infantile_5_cognitive_impairment_with_or_without_cerebellar_ataxia Myoclonus, familial, 2;Developmental and epileptic encephalopathy, 13;Seizures, benign familial infantile, 5;Cognitive impairment with or without cerebellar ataxia Supplemental_disease_name DISEASE_NAME:myoclonus_familial_2_seizures_benign_familial_infantile_5_developmental_and_epileptic_encephalopathy_13 Myoclonus, familial, 2;Seizures, benign familial infantile, 5;Developmental and epileptic encephalopathy, 13 Supplemental_disease_name DISEASE_NAME:myoclonus_intractable_neonatal Myoclonus, intractable, neonatal Supplemental_disease_name DISEASE_NAME:myoclonus_intractable_neonatal_amyotrophic_lateral_sclerosis_susceptibility_to_25_hereditary_spastic_paraplegia_10 Myoclonus, intractable, neonatal;Amyotrophic lateral sclerosis, susceptibility to, 25;Hereditary spastic paraplegia 10 Supplemental_disease_name DISEASE_NAME:myoclonus_intractable_neonatal_hereditary_spastic_paraplegia_10_amyotrophic_lateral_sclerosis_susceptibility_to_25 Myoclonus, intractable, neonatal;Hereditary spastic paraplegia 10;Amyotrophic lateral sclerosis, susceptibility to, 25 Supplemental_disease_name DISEASE_NAME:myod1_related_disorder MYOD1-related disorder Supplemental_disease_name DISEASE_NAME:myoepithelial_tumor Myoepithelial tumor Supplemental_disease_name DISEASE_NAME:myof_related_disorder MYOF-related disorder Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_11_cataract_43 Myofibrillar myopathy 11;Cataract 43 Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_2_dilated_cardiomyopathy_1ii_cataract_16_multiple_types_fatal_infantile_hypertonic_myofibrillar_myopathy Myofibrillar myopathy 2;Dilated cardiomyopathy 1II;Cataract 16 multiple types;Fatal infantile hypertonic myofibrillar myopathy Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_2_dilated_cardiomyopathy_1ii_fatal_infantile_hypertonic_myofibrillar_myopathy_cataract_16_multiple_types Myofibrillar myopathy 2;Dilated cardiomyopathy 1II;Fatal infantile hypertonic myofibrillar myopathy;Cataract 16 multiple types Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_2_fatal_infantile_hypertonic_myofibrillar_myopathy_cataract_16_multiple_types Myofibrillar myopathy 2;Fatal infantile hypertonic myofibrillar myopathy;Cataract 16 multiple types Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_2_fatal_infantile_hypertonic_myofibrillar_myopathy_cataract_16_multiple_types_dilated_cardiomyopathy_1ii Myofibrillar myopathy 2;Fatal infantile hypertonic myofibrillar myopathy;Cataract 16 multiple types;Dilated cardiomyopathy 1II Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_2_fatal_infantile_hypertonic_myofibrillar_myopathy_dilated_cardiomyopathy_1ii_cataract_16_multiple_types Myofibrillar myopathy 2;Fatal infantile hypertonic myofibrillar myopathy;Dilated cardiomyopathy 1II;Cataract 16 multiple types Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_4_dilated_cardiomyopathy_1c Myofibrillar myopathy 4;Dilated cardiomyopathy 1C Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_dilated_cardiomyopathy_dominant_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26 Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_dilated_cardiomyopathy_dominant_hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_dilated_cardiomyopathy_dominant_hypertrophic_cardiomyopathy_26 Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26 Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26_dilated_cardiomyopathy_dominant Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26_not_provided Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;not provided Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_not_provided_hypertrophic_cardiomyopathy_26 Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;not provided;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26 Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_desmin_related_myofibrillar_myopathy_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Desmin-related myofibrillar myopathy;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_dilated_cardiomyopathy_dominant_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_dilated_cardiomyopathy_dominant Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_not_provided Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;not provided Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_not_provided_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;not provided;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_not_provided_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26 Myofibrillar myopathy 5;not provided;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_5_not_provided_hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement Myofibrillar myopathy 5;not provided;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:myofibrillar_myopathy_6_dilated_cardiomyopathy_1hh Myofibrillar myopathy 6;Dilated cardiomyopathy 1HH Supplemental_disease_name DISEASE_NAME:myofibromatosis_infantile_1 Myofibromatosis, infantile, 1 Supplemental_disease_name DISEASE_NAME:myofibromatosis_infantile_1_skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_basal_ganglia_calcification_idiopathic_4_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_myeloproliferative_disorder_chronic_with_eosinophilia Myofibromatosis, infantile, 1;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Basal ganglia calcification, idiopathic, 4;Acroosteolysis-keloid-like lesions-premature aging syndrome;Myeloproliferative disorder, chronic, with eosinophilia Supplemental_disease_name DISEASE_NAME:myofibromatosis_infantile_2 Myofibromatosis, infantile, 2 Supplemental_disease_name DISEASE_NAME:myofibromatosis_infantile_2_cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1_lateral_meningocele_syndrome Myofibromatosis, infantile, 2;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Lateral meningocele syndrome Supplemental_disease_name DISEASE_NAME:myofibromatosis_infantile_2_lateral_meningocele_syndrome_cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_1 Myofibromatosis, infantile, 2;Lateral meningocele syndrome;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Supplemental_disease_name DISEASE_NAME:myoglobinuria_acute_recurrent_autosomal_recessive Myoglobinuria, acute recurrent, autosomal recessive Supplemental_disease_name DISEASE_NAME:myoglobinuria_recurrent Myoglobinuria, recurrent Supplemental_disease_name DISEASE_NAME:myokymia_1 Myokymia 1 Supplemental_disease_name DISEASE_NAME:myokymia_1_with_hypomagnesemia Myokymia 1 with hypomagnesemia Supplemental_disease_name DISEASE_NAME:myom1_related_disorder MYOM1-related disorder Supplemental_disease_name DISEASE_NAME:myom1_related_non_immune_fetal_hydrops MYOM1-related non-immune fetal hydrops Supplemental_disease_name DISEASE_NAME:myom2_related_disorder MYOM2-related disorder Supplemental_disease_name DISEASE_NAME:myopathic_ehlers_danlos_syndrome Myopathic Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:myopathy_autophagic_vacuolar_infantile_onset Myopathy, autophagic vacuolar, infantile-onset Supplemental_disease_name DISEASE_NAME:myopathy_caused_by_variation_in_fkrp Myopathy caused by variation in FKRP Supplemental_disease_name DISEASE_NAME:myopathy_caused_by_variation_in_fktn Myopathy caused by variation in FKTN Supplemental_disease_name DISEASE_NAME:myopathy_caused_by_variation_in_gmppb Myopathy caused by variation in GMPPB Supplemental_disease_name DISEASE_NAME:myopathy_caused_by_variation_in_pomgnt1 Myopathy caused by variation in POMGNT1 Supplemental_disease_name DISEASE_NAME:myopathy_caused_by_variation_in_pomt1 Myopathy caused by variation in POMT1 Supplemental_disease_name DISEASE_NAME:myopathy_caused_by_variation_in_pomt2 Myopathy caused by variation in POMT2 Supplemental_disease_name DISEASE_NAME:myopathy_centronuclear_2 Myopathy, centronuclear, 2 Supplemental_disease_name DISEASE_NAME:myopathy_centronuclear_5 Myopathy, centronuclear, 5 Supplemental_disease_name DISEASE_NAME:myopathy_centronuclear_5_autosomal_dominant_centronuclear_myopathy Myopathy, centronuclear, 5;Autosomal dominant centronuclear myopathy Supplemental_disease_name DISEASE_NAME:myopathy_centronuclear_6_with_fiber_type_disproportion Myopathy, centronuclear, 6, with fiber-type disproportion Supplemental_disease_name DISEASE_NAME:myopathy_centronuclear_6_with_fiber_type_disproportion_split_foot_malformation_mesoaxial_polydactyly_syndrome Myopathy, centronuclear, 6, with fiber-type disproportion;Split-foot malformation-mesoaxial polydactyly syndrome Supplemental_disease_name DISEASE_NAME:myopathy_centronuclear_autosomal_dominant_modifier_of MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF Supplemental_disease_name DISEASE_NAME:myopathy_congenital_progressive_with_scoliosis Myopathy, congenital, progressive, with scoliosis Supplemental_disease_name DISEASE_NAME:myopathy_congenital_progressive_with_scoliosis_alveolar_rhabdomyosarcoma Myopathy, congenital, progressive, with scoliosis;Alveolar rhabdomyosarcoma Supplemental_disease_name DISEASE_NAME:myopathy_congenital_proximal_with_minicore_lesions Myopathy, congenital proximal, with minicore lesions Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_diaphragmatic_defects_respiratory_insufficiency_and_dysmorphic_facies Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_excess_of_muscle_spindles Myopathy, congenital, with excess of muscle spindles Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_respiratory_insufficiency_and_bone_fractures Myopathy, congenital, with respiratory insufficiency and bone fractures Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_respiratory_insufficiency_and_bone_fractures_myopathy_congenital_proximal_with_minicore_lesions Myopathy, congenital, with respiratory insufficiency and bone fractures;Myopathy, congenital proximal, with minicore lesions Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_structured_cores_and_z_line_abnormalities Myopathy, congenital, with structured cores and z-line abnormalities Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_structured_cores_and_z_line_abnormalities_dilated_cardiomyopathy_1aa_myopathy_distal_6_adult_onset_autosomal_dominant Myopathy, congenital, with structured cores and z-line abnormalities;Dilated cardiomyopathy 1AA;Myopathy, distal, 6, adult-onset, autosomal dominant Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_structured_cores_and_z_line_abnormalities_myopathy_distal_6_adult_onset_autosomal_dominant_dilated_cardiomyopathy_1aa Myopathy, congenital, with structured cores and z-line abnormalities;Myopathy, distal, 6, adult-onset, autosomal dominant;Dilated cardiomyopathy 1AA Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_tremor Myopathy, congenital, with tremor Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_tremor_arthrogryposis_distal_type_1b Myopathy, congenital, with tremor;Arthrogryposis, distal, type 1B Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_tremor_arthrogryposis_distal_type_1b_lethal_congenital_contracture_syndrome_4 Myopathy, congenital, with tremor;Arthrogryposis, distal, type 1B;Lethal congenital contracture syndrome 4 Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_tremor_lethal_congenital_contracture_syndrome_4_arthrogryposis_distal_type_1b Myopathy, congenital, with tremor;Lethal congenital contracture syndrome 4;Arthrogryposis, distal, type 1B Supplemental_disease_name DISEASE_NAME:myopathy_distal_5 Myopathy, distal, 5 Supplemental_disease_name DISEASE_NAME:myopathy_distal_6_adult_onset_autosomal_dominant Myopathy, distal, 6, adult-onset, autosomal dominant Supplemental_disease_name DISEASE_NAME:myopathy_distal_6_adult_onset_autosomal_dominant_central_core_myopathy Myopathy, distal, 6, adult-onset, autosomal dominant;Central core myopathy Supplemental_disease_name DISEASE_NAME:myopathy_distal_6_adult_onset_autosomal_dominant_dilated_cardiomyopathy_1aa_myopathy_congenital_with_structured_cores_and_z_line_abnormalities Myopathy, distal, 6, adult-onset, autosomal dominant;Dilated cardiomyopathy 1AA;Myopathy, congenital, with structured cores and z-line abnormalities Supplemental_disease_name DISEASE_NAME:myopathy_distal_6_adult_onset_autosomal_dominant_myopathy_congenital_with_structured_cores_and_z_line_abnormalities_dilated_cardiomyopathy_1aa Myopathy, distal, 6, adult-onset, autosomal dominant;Myopathy, congenital, with structured cores and z-line abnormalities;Dilated cardiomyopathy 1AA Supplemental_disease_name DISEASE_NAME:myopathy_distal_7_adult_onset_x_linked Myopathy, distal, 7, adult-onset, X-linked Supplemental_disease_name DISEASE_NAME:myopathy_distal_with_rimmed_vacuoles Myopathy, distal, with rimmed vacuoles Supplemental_disease_name DISEASE_NAME:myopathy_distal_with_rimmed_vacuoles_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_3 Myopathy, distal, with rimmed vacuoles;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Supplemental_disease_name DISEASE_NAME:myopathy_distal_with_rimmed_vacuoles_paget_disease_of_bone_3_neurodegeneration_with_ataxia_dystonia_and_gaze_palsy_childhood_onset_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_3 Myopathy, distal, with rimmed vacuoles;Paget disease of bone 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Supplemental_disease_name DISEASE_NAME:myopathy_due_to_calsequestrin_and_serca1_protein_overload Myopathy due to calsequestrin and SERCA1 protein overload Supplemental_disease_name DISEASE_NAME:myopathy_epilepsy_and_progressive_cerebral_atrophy Myopathy, epilepsy, and progressive cerebral atrophy Supplemental_disease_name DISEASE_NAME:myopathy_epilepsy_and_progressive_cerebral_atrophy_intellectual_developmental_disorder_with_epilepsy_behavioral_abnormalities_and_coarse_facies_congenital_myasthenic_syndrome_15 Myopathy, epilepsy, and progressive cerebral atrophy;Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies;Congenital myasthenic syndrome 15 Supplemental_disease_name DISEASE_NAME:myopathy_lower_limb_muscle_weakness_rimmed_vacuoles Myopathy;Lower limb muscle weakness;Rimmed vacuoles Supplemental_disease_name DISEASE_NAME:myopathy_mitochondrial_late_onset Myopathy, mitochondrial, late-onset Supplemental_disease_name DISEASE_NAME:myopathy_mitochondrial_with_diabetes_mellitus Myopathy, mitochondrial, with diabetes mellitus Supplemental_disease_name DISEASE_NAME:myopathy_myofibrillar_12_infantile_onset_with_cardiomyopathy Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy Supplemental_disease_name DISEASE_NAME:myopathy_myofibrillar_12_infantile_onset_with_cardiomyopathy_hypertrophic_cardiomyopathy_10 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy;Hypertrophic cardiomyopathy 10 Supplemental_disease_name DISEASE_NAME:myopathy_myofibrillar_13_with_rimmed_vacuoles Myopathy, myofibrillar, 13, with rimmed vacuoles Supplemental_disease_name DISEASE_NAME:myopathy_myofibrillar_9_with_early_respiratory_failure Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:myopathy_myofibrillar_9_with_early_respiratory_failure_early_onset_myopathy_with_fatal_cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure;Early-onset myopathy with fatal cardiomyopathy Supplemental_disease_name DISEASE_NAME:myopathy_myofibrillar_9_with_early_respiratory_failure_hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g Myopathy, myofibrillar, 9, with early respiratory failure;Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G Supplemental_disease_name DISEASE_NAME:myopathy_myofibrillar_9_with_early_respiratory_failure_hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_early_onset_myopathy_with_fatal_cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure;Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J;Early-onset myopathy with fatal cardiomyopathy Supplemental_disease_name DISEASE_NAME:myopathy_myofibrillar_9_with_early_respiratory_failure_hypertrophic_cardiomyopathy_9_dilated_cardiomyopathy_1g_tibial_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j Myopathy, myofibrillar, 9, with early respiratory failure;Hypertrophic cardiomyopathy 9;Dilated cardiomyopathy 1G;Tibial muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2J Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy_myosin_storage_myopathy_hypertrophic_cardiomyopathy_1 Myopathy, myosin storage, autosomal recessive;Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy;Myosin storage myopathy;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_dilated_cardiomyopathy_1s_myosin_storage_myopathy_myh7_related_skeletal_myopathy_hypertrophic_cardiomyopathy_1 Myopathy, myosin storage, autosomal recessive;Dilated cardiomyopathy 1S;Myosin storage myopathy;MYH7-related skeletal myopathy;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy_myosin_storage_myopathy Myopathy, myosin storage, autosomal recessive;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy;Myosin storage myopathy Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_hypertrophic_cardiomyopathy_1_myosin_storage_myopathy_dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy Myopathy, myosin storage, autosomal recessive;Hypertrophic cardiomyopathy 1;Myosin storage myopathy;Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_myh7_related_skeletal_myopathy Myopathy, myosin storage, autosomal recessive;MYH7-related skeletal myopathy Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_myh7_related_skeletal_myopathy_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1s_myosin_storage_myopathy Myopathy, myosin storage, autosomal recessive;MYH7-related skeletal myopathy;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1S;Myosin storage myopathy Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_myosin_storage_myopathy_dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_myosin_storage_myopathy_dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy_hypertrophic_cardiomyopathy_1 Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_myosin_storage_myopathy_myh7_related_skeletal_myopathy_dilated_cardiomyopathy_1s_hypertrophic_cardiomyopathy_1 Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;MYH7-related skeletal myopathy;Dilated cardiomyopathy 1S;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:myopathy_myosin_storage_autosomal_recessive_myosin_storage_myopathy_myh7_related_skeletal_myopathy_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1s Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;MYH7-related skeletal myopathy;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1S Supplemental_disease_name DISEASE_NAME:myopathy_pelvic_girdle_muscle_weakness Myopathy;Pelvic girdle muscle weakness Supplemental_disease_name DISEASE_NAME:myopathy_premature_ovarian_insufficiency_sensorineural_hearing_loss_disorder Myopathy;Premature ovarian insufficiency;Sensorineural hearing loss disorder Supplemental_disease_name DISEASE_NAME:myopathy_progressive_axial_with_cataracts Myopathy, progressive axial with cataracts Supplemental_disease_name DISEASE_NAME:myopathy_proximal_and_ophthalmoplegia Myopathy, proximal, and ophthalmoplegia Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_childhood_onset Myopathy, reducing body, X-linked, childhood-onset Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_childhood_onset_myopathy_reducing_body_x_linked_early_onset_severe_uruguay_faciocardiomusculoskeletal_syndrome_x_linked_scapuloperoneal_muscular_dystrophy_x_linked_myopathy_with_postural_muscle_atrophy Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;Uruguay Faciocardiomusculoskeletal syndrome;X-linked scapuloperoneal muscular dystrophy;X-linked myopathy with postural muscle atrophy Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_childhood_onset_myopathy_reducing_body_x_linked_early_onset_severe_x_linked_myopathy_with_postural_muscle_atrophy Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;X-linked myopathy with postural muscle atrophy Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_childhood_onset_myopathy_reducing_body_x_linked_early_onset_severe_x_linked_myopathy_with_postural_muscle_atrophy_uruguay_faciocardiomusculoskeletal_syndrome_x_linked_scapuloperoneal_muscular_dystrophy Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;X-linked myopathy with postural muscle atrophy;Uruguay Faciocardiomusculoskeletal syndrome;X-linked scapuloperoneal muscular dystrophy Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_childhood_onset_myopathy_reducing_body_x_linked_early_onset_severe_x_linked_myopathy_with_postural_muscle_atrophy_x_linked_scapuloperoneal_muscular_dystrophy_uruguay_faciocardiomusculoskeletal_syndrome Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;X-linked myopathy with postural muscle atrophy;X-linked scapuloperoneal muscular dystrophy;Uruguay Faciocardiomusculoskeletal syndrome Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_childhood_onset_myopathy_reducing_body_x_linked_early_onset_severe_x_linked_scapuloperoneal_muscular_dystrophy_x_linked_myopathy_with_postural_muscle_atrophy_uruguay_faciocardiomusculoskeletal_syndrome Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;X-linked scapuloperoneal muscular dystrophy;X-linked myopathy with postural muscle atrophy;Uruguay Faciocardiomusculoskeletal syndrome Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_childhood_onset_uruguay_faciocardiomusculoskeletal_syndrome_myopathy_reducing_body_x_linked_early_onset_severe_x_linked_scapuloperoneal_muscular_dystrophy_x_linked_myopathy_with_postural_muscle_atrophy Myopathy, reducing body, X-linked, childhood-onset;Uruguay Faciocardiomusculoskeletal syndrome;Myopathy, reducing body, X-linked, early-onset, severe;X-linked scapuloperoneal muscular dystrophy;X-linked myopathy with postural muscle atrophy Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_childhood_onset_x_linked_myopathy_with_postural_muscle_atrophy_uruguay_faciocardiomusculoskeletal_syndrome_x_linked_scapuloperoneal_muscular_dystrophy_myopathy_reducing_body_x_linked_early_onset_severe Myopathy, reducing body, X-linked, childhood-onset;X-linked myopathy with postural muscle atrophy;Uruguay Faciocardiomusculoskeletal syndrome;X-linked scapuloperoneal muscular dystrophy;Myopathy, reducing body, X-linked, early-onset, severe Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_early_onset_severe Myopathy, reducing body, X-linked, early-onset, severe Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_early_onset_severe_uruguay_faciocardiomusculoskeletal_syndrome_myopathy_reducing_body_x_linked_childhood_onset_x_linked_myopathy_with_postural_muscle_atrophy_x_linked_scapuloperoneal_muscular_dystrophy Myopathy, reducing body, X-linked, early-onset, severe;Uruguay Faciocardiomusculoskeletal syndrome;Myopathy, reducing body, X-linked, childhood-onset;X-linked myopathy with postural muscle atrophy;X-linked scapuloperoneal muscular dystrophy Supplemental_disease_name DISEASE_NAME:myopathy_reducing_body_x_linked_early_onset_severe_x_linked_scapuloperoneal_muscular_dystrophy_myopathy_reducing_body_x_linked_childhood_onset_x_linked_myopathy_with_postural_muscle_atrophy_uruguay_faciocardiomusculoskeletal_syndrome Myopathy, reducing body, X-linked, early-onset, severe;X-linked scapuloperoneal muscular dystrophy;Myopathy, reducing body, X-linked, childhood-onset;X-linked myopathy with postural muscle atrophy;Uruguay Faciocardiomusculoskeletal syndrome Supplemental_disease_name DISEASE_NAME:myopathy_rhabdomyolysis Myopathy;Rhabdomyolysis Supplemental_disease_name DISEASE_NAME:myopathy_ryr1_associated Myopathy, RYR1-associated Supplemental_disease_name DISEASE_NAME:myopathy_sarcoplasmic_body Myopathy, sarcoplasmic body Supplemental_disease_name DISEASE_NAME:myopathy_spinal_muscular_atrophy Myopathy;Spinal muscular atrophy Supplemental_disease_name DISEASE_NAME:myopathy_tubular_aggregate_1 Myopathy, tubular aggregate, 1 Supplemental_disease_name DISEASE_NAME:myopathy_tubular_aggregate_1_combined_immunodeficiency_due_to_orai1_deficiency Myopathy, tubular aggregate, 1;Combined immunodeficiency due to ORAI1 deficiency Supplemental_disease_name DISEASE_NAME:myopathy_tubular_aggregate_1_combined_immunodeficiency_due_to_stim1_deficiency Myopathy, tubular aggregate, 1;Combined immunodeficiency due to STIM1 deficiency Supplemental_disease_name DISEASE_NAME:myopathy_tubular_aggregate_1_combined_immunodeficiency_due_to_stim1_deficiency_stormorken_syndrome Myopathy, tubular aggregate, 1;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome Supplemental_disease_name DISEASE_NAME:myopathy_tubular_aggregate_1_stormorken_syndrome_combined_immunodeficiency_due_to_stim1_deficiency Myopathy, tubular aggregate, 1;Stormorken syndrome;Combined immunodeficiency due to STIM1 deficiency Supplemental_disease_name DISEASE_NAME:myopathy_tubular_aggregate_2 Myopathy, tubular aggregate, 2 Supplemental_disease_name DISEASE_NAME:myopathy_tubular_aggregate_2_combined_immunodeficiency_due_to_orai1_deficiency Myopathy, tubular aggregate, 2;Combined immunodeficiency due to ORAI1 deficiency Supplemental_disease_name DISEASE_NAME:myopathy_with_abnormal_lipid_metabolism Myopathy with abnormal lipid metabolism Supplemental_disease_name DISEASE_NAME:myopathy_with_myalgia_increased_serum_creatine_kinase_and_with_or_without_episodic_rhabdomyolysis Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis Supplemental_disease_name DISEASE_NAME:myopathy_with_myalgia_increased_serum_creatine_kinase_without_episodic_rhabdomyolysis_2 MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, WITHOUT EPISODIC RHABDOMYOLYSIS 2 Supplemental_disease_name DISEASE_NAME:myopathy_with_tubular_aggregates Myopathy with tubular aggregates Supplemental_disease_name DISEASE_NAME:myopathy_with_tubular_aggregates_combined_immunodeficiency_due_to_stim1_deficiency_stormorken_syndrome Myopathy with tubular aggregates;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome Supplemental_disease_name DISEASE_NAME:myopathy_with_tubular_aggregates_stormorken_syndrome_combined_immunodeficiency_due_to_stim1_deficiency Myopathy with tubular aggregates;Stormorken syndrome;Combined immunodeficiency due to STIM1 deficiency Supplemental_disease_name DISEASE_NAME:myopia_21_autosomal_dominant Myopia 21, autosomal dominant Supplemental_disease_name DISEASE_NAME:myopia_22_autosomal_dominant Myopia 22, autosomal dominant Supplemental_disease_name DISEASE_NAME:myopia_23_autosomal_recessive Myopia 23, autosomal recessive Supplemental_disease_name DISEASE_NAME:myopia_24_autosomal_dominant Myopia 24, autosomal dominant Supplemental_disease_name DISEASE_NAME:myopia_25_autosomal_dominant Myopia 25, autosomal dominant Supplemental_disease_name DISEASE_NAME:myopia_26_x_linked_female_limited Myopia 26, X-linked, female-limited Supplemental_disease_name DISEASE_NAME:myopia_27 Myopia 27 Supplemental_disease_name DISEASE_NAME:myopia_28_autosomal_recessive Myopia 28, autosomal recessive Supplemental_disease_name DISEASE_NAME:myopia_2_autosomal_dominant Myopia 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:myopia_6 Myopia 6 Supplemental_disease_name DISEASE_NAME:myopia_6_cardioencephalomyopathy_fatal_infantile_due_to_cytochrome_c_oxidase_deficiency_1 Myopia 6;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Supplemental_disease_name DISEASE_NAME:myopia_albinism_nystagmus Myopia;Albinism;Nystagmus Supplemental_disease_name DISEASE_NAME:myopia_autistic_behavior_aplasia_hypoplasia_of_the_inner_ear_reduced_social_responsiveness_astigmatism Myopia;Autistic behavior;Aplasia/Hypoplasia of the inner ear;Reduced social responsiveness;Astigmatism Supplemental_disease_name DISEASE_NAME:myopia_hearing_impairment_proteinuria_hematuria_hypertensive_disorder Myopia;Hearing impairment;Proteinuria;Hematuria;Hypertensive disorder Supplemental_disease_name DISEASE_NAME:myopia_high_with_cataract_and_vitreoretinal_degeneration Myopia, high, with cataract and vitreoretinal degeneration Supplemental_disease_name DISEASE_NAME:myopia_joint_hypermobility_tall_stature_inguinal_hernia_pectus_excavatum Myopia;Joint hypermobility;Tall stature;Inguinal hernia;Pectus excavatum Supplemental_disease_name DISEASE_NAME:myopia_lens_luxation_intellectual_disability Myopia;Lens luxation;Intellectual disability Supplemental_disease_name DISEASE_NAME:myopia_progressive_sensorineural_hearing_impairment_vertigo Myopia;Progressive sensorineural hearing impairment;Vertigo Supplemental_disease_name DISEASE_NAME:myopia_vertigo_progressive_sensorineural_hearing_impairment Myopia;Vertigo;Progressive sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:myorg_related_disorder MYORG-related disorder Supplemental_disease_name DISEASE_NAME:myosclerosis Myosclerosis Supplemental_disease_name DISEASE_NAME:myosclerosis_bethlem_myopathy_1a_ullrich_congenital_muscular_dystrophy_1a Myosclerosis;Bethlem myopathy 1A;Ullrich congenital muscular dystrophy 1A Supplemental_disease_name DISEASE_NAME:myosclerosis_bethlem_myopathy_1b_ullrich_congenital_muscular_dystrophy_1b Myosclerosis;Bethlem myopathy 1B;Ullrich congenital muscular dystrophy 1B Supplemental_disease_name DISEASE_NAME:myosclerosis_ullrich_congenital_muscular_dystrophy_1b_bethlem_myopathy_1b Myosclerosis;Ullrich congenital muscular dystrophy 1B;Bethlem myopathy 1B Supplemental_disease_name DISEASE_NAME:myosin_storage_myopathy_dilated_cardiomyopathy_1s_myh7_related_skeletal_myopathy_hypertrophic_cardiomyopathy_1_myopathy_myosin_storage_autosomal_recessive Myosin storage myopathy;Dilated cardiomyopathy 1S;MYH7-related skeletal myopathy;Hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive Supplemental_disease_name DISEASE_NAME:myosin_storage_myopathy_myh7_related_skeletal_myopathy_hypertrophic_cardiomyopathy_1_myopathy_myosin_storage_autosomal_recessive_dilated_cardiomyopathy_1s Myosin storage myopathy;MYH7-related skeletal myopathy;Hypertrophic cardiomyopathy 1;Myopathy, myosin storage, autosomal recessive;Dilated cardiomyopathy 1S Supplemental_disease_name DISEASE_NAME:myositis_eosinophilic Myositis, eosinophilic Supplemental_disease_name DISEASE_NAME:myot_related_disorder MYOT-related disorder Supplemental_disease_name DISEASE_NAME:myotonia Myotonia Supplemental_disease_name DISEASE_NAME:myotonia_congenita_atypical_acetazolamide_responsive Myotonia congenita, atypical, acetazolamide-responsive Supplemental_disease_name DISEASE_NAME:myotonia_fluctuans Myotonia fluctuans Supplemental_disease_name DISEASE_NAME:myotonia_levior Myotonia levior Supplemental_disease_name DISEASE_NAME:myotonia_muscle_weakness Myotonia;Muscle weakness Supplemental_disease_name DISEASE_NAME:myotonia_permanens Myotonia permanens Supplemental_disease_name DISEASE_NAME:myotonic_dystrophy Myotonic dystrophy Supplemental_disease_name DISEASE_NAME:myotonic_dystrophy_like_myopathy Myotonic dystrophy-like myopathy Supplemental_disease_name DISEASE_NAME:myoz2_related_disorder MYOZ2-related disorder Supplemental_disease_name DISEASE_NAME:mypn_related_disorder MYPN-related disorder Supplemental_disease_name DISEASE_NAME:mypn_related_myopathy MYPN-related myopathy Supplemental_disease_name DISEASE_NAME:mypn_related_myopathy_dilated_cardiomyopathy_1kk MYPN-related myopathy;Dilated cardiomyopathy 1KK Supplemental_disease_name DISEASE_NAME:myrf_related_disorder MYRF-related disorder Supplemental_disease_name DISEASE_NAME:mysm1_related_disorder MYSM1-related disorder Supplemental_disease_name DISEASE_NAME:myt1_related_disorder MYT1-related disorder Supplemental_disease_name DISEASE_NAME:myt1l_related_disorder MYT1L-related disorder Supplemental_disease_name DISEASE_NAME:myt1l_related_neurodevelopmental_disorder MYT1L-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:myxomatous_mitral_valve_degeneration_high_palate_disproportionate_tall_stature_mitral_valve_prolapse_lumbar_scoliosis Myxomatous mitral valve degeneration;High palate;Disproportionate tall stature;Mitral valve prolapse;Lumbar scoliosis Supplemental_disease_name DISEASE_NAME:n_acetylaspartate_deficiency N-acetylaspartate deficiency Supplemental_disease_name DISEASE_NAME:naa10_related_disorder NAA10-related disorder Supplemental_disease_name DISEASE_NAME:naa10_related_syndrome NAA10-related syndrome Supplemental_disease_name DISEASE_NAME:naa15_related_disorder NAA15-related disorder Supplemental_disease_name DISEASE_NAME:naa15_related_syndrome NAA15-related syndrome Supplemental_disease_name DISEASE_NAME:naa50_related_disorder NAA50-related disorder Supplemental_disease_name DISEASE_NAME:naaladl2_related_disorder NAALADL2-related disorder Supplemental_disease_name DISEASE_NAME:nabais_sa_de_vries_syndrome Nabais Sa-de Vries syndrome Supplemental_disease_name DISEASE_NAME:nacc1_related_disorder NACC1-related disorder Supplemental_disease_name DISEASE_NAME:nad_p_hx_dehydratase_deficiency NAD(P)HX dehydratase deficiency Supplemental_disease_name DISEASE_NAME:nadk2_related_disorder NADK2-related disorder Supplemental_disease_name DISEASE_NAME:nadsyn1_related_disorder NADSYN1-related disorder Supplemental_disease_name DISEASE_NAME:naf1_related_disorder NAF1-related disorder Supplemental_disease_name DISEASE_NAME:nafld1 NAFLD1 Supplemental_disease_name DISEASE_NAME:naga_related_disorder NAGA-related disorder Supplemental_disease_name DISEASE_NAME:naglu_related_disorder NAGLU-related disorder Supplemental_disease_name DISEASE_NAME:nagpa_related_disorder NAGPA-related disorder Supplemental_disease_name DISEASE_NAME:nags_related_disorder NAGS-related disorder Supplemental_disease_name DISEASE_NAME:nail_and_teeth_abnormalities_marginal_palmoplantar_keratoderma_oral_hyperpigmentation_syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Supplemental_disease_name DISEASE_NAME:nail_and_teeth_abnormalities_marginal_palmoplantar_keratoderma_oral_hyperpigmentation_syndrome_corneal_dystrophy_posterior_polymorphous_4_autosomal_dominant_nonsyndromic_hearing_loss_28 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome;Corneal dystrophy, posterior polymorphous, 4;Autosomal dominant nonsyndromic hearing loss 28 Supplemental_disease_name DISEASE_NAME:nail_disorder Nail disorder Supplemental_disease_name DISEASE_NAME:nail_dystrophy_abnormality_of_the_skin_skin_erosion Nail dystrophy;Abnormality of the skin;Skin erosion Supplemental_disease_name DISEASE_NAME:nail_patella_like_renal_disease Nail-patella-like renal disease Supplemental_disease_name DISEASE_NAME:nail_patella_like_renal_disease_nail_patella_syndrome Nail-patella-like renal disease;Nail-patella syndrome Supplemental_disease_name DISEASE_NAME:nail_patella_syndrome_developmental_and_epileptic_encephalopathy_4 Nail-patella syndrome;Developmental and epileptic encephalopathy, 4 Supplemental_disease_name DISEASE_NAME:nail_patella_syndrome_nail_patella_like_renal_disease Nail-patella syndrome;Nail-patella-like renal disease Supplemental_disease_name DISEASE_NAME:nalcn_related_disorder NALCN-related disorder Supplemental_disease_name DISEASE_NAME:namaqualand_hip_dysplasia Namaqualand hip dysplasia Supplemental_disease_name DISEASE_NAME:nance_horan_syndrome_cataract_40 Nance-Horan syndrome;Cataract 40 Supplemental_disease_name DISEASE_NAME:nanophthalmia Nanophthalmia Supplemental_disease_name DISEASE_NAME:nanophthalmos_1 Nanophthalmos 1 Supplemental_disease_name DISEASE_NAME:nanophthalmos_1_encephalitis_encephalopathy_mild_with_reversible_myelin_vacuolization_cardiac_urogenital_syndrome Nanophthalmos 1;Encephalitis/encephalopathy, mild, with reversible myelin vacuolization;Cardiac-urogenital syndrome Supplemental_disease_name DISEASE_NAME:nanophthalmos_2 Nanophthalmos 2 Supplemental_disease_name DISEASE_NAME:nanophthalmos_2_isolated_microphthalmia_5 Nanophthalmos 2;Isolated microphthalmia 5 Supplemental_disease_name DISEASE_NAME:nanophthalmos_4 Nanophthalmos 4 Supplemental_disease_name DISEASE_NAME:nanophthalmos_4_imagawa_matsumoto_syndrome_mircrodeletion_17q11_2q12_including_tmem98_and_suz12 Nanophthalmos 4;Imagawa-Matsumoto syndrome;mircrodeletion 17q11.2q12 including TMEM98 and SUZ12 Supplemental_disease_name DISEASE_NAME:nanos1_related_disorder NANOS1-related disorder Supplemental_disease_name DISEASE_NAME:nans_related_disorder NANS-related disorder Supplemental_disease_name DISEASE_NAME:napb_related_disorder NAPB-related disorder Supplemental_disease_name DISEASE_NAME:narcolepsy_1 Narcolepsy 1 Supplemental_disease_name DISEASE_NAME:narcolepsy_7 Narcolepsy 7 Supplemental_disease_name DISEASE_NAME:narg2_related_intellectual_disability NARG2-related Intellectual disability Supplemental_disease_name DISEASE_NAME:narrow_chest_polycystic_kidney_disease_clubfoot_hyperechogenic_kidneys Narrow chest;Polycystic kidney disease;Clubfoot;Hyperechogenic kidneys Supplemental_disease_name DISEASE_NAME:nars1_related_disorder NARS1-related disorder Supplemental_disease_name DISEASE_NAME:nars2_related_disorder NARS2-related disorder Supplemental_disease_name DISEASE_NAME:nars2_related_primary_mitochondrial_disorder NARS2-related primary mitochondrial disorder Supplemental_disease_name DISEASE_NAME:nasal_polyposis Nasal polyposis Supplemental_disease_name DISEASE_NAME:nasolacrimal_duct_obstruction_orofacial_cleft_feeding_difficulties_in_infancy Nasolacrimal duct obstruction;Orofacial cleft;Feeding difficulties in infancy Supplemental_disease_name DISEASE_NAME:nasopalpebral_lipoma_coloboma_syndrome Nasopalpebral lipoma-coloboma syndrome Supplemental_disease_name DISEASE_NAME:nasopharyngeal_carcinoma_susceptibility_to_3 Nasopharyngeal carcinoma, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:nat1_17_allele NAT1*17 ALLELE Supplemental_disease_name DISEASE_NAME:nat2_related_disorder NAT2-related disorder Supplemental_disease_name DISEASE_NAME:nat8l_related_disorder NAT8L-related disorder Supplemental_disease_name DISEASE_NAME:natural_killer_cell_and_glucocorticoid_deficiency Natural killer cell and glucocorticoid deficiency Supplemental_disease_name DISEASE_NAME:nav2_related_disorder NAV2-related disorder Supplemental_disease_name DISEASE_NAME:nav2_related_neurodevelopmental_condition NAV2-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:nav3_associated_neurodevelopmental_disorder NAV3-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:naxd_related_disorder NAXD-related disorder Supplemental_disease_name DISEASE_NAME:naxe_related_disorder NAXE-related disorder Supplemental_disease_name DISEASE_NAME:naxos_disease_arrhythmogenic_right_ventricular_dysplasia_12 Naxos disease;Arrhythmogenic right ventricular dysplasia 12 Supplemental_disease_name DISEASE_NAME:naxos_disease_non_syndromic_arrhythmogenic_right_ventricular_cardiomyopathy Naxos disease;non-syndromic arrhythmogenic right ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:nbas_related_disorder NBAS-related disorder Supplemental_disease_name DISEASE_NAME:nbea_related_complex_neurodevelopmental_disorder NBEA-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nbea_related_developmental_delay_and_generalized_epilepsy NBEA-related developmental delay and generalized epilepsy Supplemental_disease_name DISEASE_NAME:nbea_related_disorder NBEA-related disorder Supplemental_disease_name DISEASE_NAME:nbea_related_intellectual_disability NBEA-related intellectual disability Supplemental_disease_name DISEASE_NAME:nbeal2_related_disorder NBEAL2-related disorder Supplemental_disease_name DISEASE_NAME:nbn_related_disorder NBN-related disorder Supplemental_disease_name DISEASE_NAME:ncam2_related_disorder NCAM2-related disorder Supplemental_disease_name DISEASE_NAME:ncapd2_related_disorder NCAPD2-related disorder Supplemental_disease_name DISEASE_NAME:ncapd3_related_disorder NCAPD3-related disorder Supplemental_disease_name DISEASE_NAME:ncapg2_related_disorder NCAPG2-related disorder Supplemental_disease_name DISEASE_NAME:ncaph_related_disorder NCAPH-related disorder Supplemental_disease_name DISEASE_NAME:ncdn_related_disorder NCDN-related disorder Supplemental_disease_name DISEASE_NAME:ncf2_related_disorder NCF2-related disorder Supplemental_disease_name DISEASE_NAME:ncf4_related_disorder NCF4-related disorder Supplemental_disease_name DISEASE_NAME:nckap1_associated_neurodevelopmental_disorder NCKAP1-associated Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nckap1_related_disorder NCKAP1-related disorder Supplemental_disease_name DISEASE_NAME:nckap1_related_neurodevelopmental_disorder_with_autism_features NCKAP1-related neurodevelopmental disorder with autism features Supplemental_disease_name DISEASE_NAME:nckap1l_related_disorder NCKAP1L-related disorder Supplemental_disease_name DISEASE_NAME:ncoa1_related_disorder NCOA1-related disorder Supplemental_disease_name DISEASE_NAME:ncor1_related_autism_spectrum_disorder NCOR1-related autism spectrum disorder Supplemental_disease_name DISEASE_NAME:ncor1_related_disorder NCOR1-related disorder Supplemental_disease_name DISEASE_NAME:ncor1_related_neurodevelopmental_disorder NCOR1-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ncor2_related_disorder NCOR2-related disorder Supplemental_disease_name DISEASE_NAME:ncr3_related_disorder NCR3-related disorder Supplemental_disease_name DISEASE_NAME:ncstn_related_disorder NCSTN-related disorder Supplemental_disease_name DISEASE_NAME:ndc1_related_disorder NDC1-related disorder Supplemental_disease_name DISEASE_NAME:nde1_related_disorder NDE1-related disorder Supplemental_disease_name DISEASE_NAME:nde1_related_microhydranencephaly NDE1-related microhydranencephaly Supplemental_disease_name DISEASE_NAME:nde1_related_microhydranencephaly_lissencephaly_4 NDE1-related microhydranencephaly;Lissencephaly 4 Supplemental_disease_name DISEASE_NAME:ndn_related_disorder NDN-related disorder Supplemental_disease_name DISEASE_NAME:ndnf_related_condition NDNF-related condition Supplemental_disease_name DISEASE_NAME:ndp_related_disorder NDP-related disorder Supplemental_disease_name DISEASE_NAME:ndp_related_retinopathies NDP-Related Retinopathies Supplemental_disease_name DISEASE_NAME:ndrg1_related_disorder NDRG1-related disorder Supplemental_disease_name DISEASE_NAME:ndrg4_related_disorder NDRG4-related disorder Supplemental_disease_name DISEASE_NAME:ndst1_related_disorder NDST1-related disorder Supplemental_disease_name DISEASE_NAME:ndufa10_related_disorder NDUFA10-related disorder Supplemental_disease_name DISEASE_NAME:ndufa11_related_disorder NDUFA11-related disorder Supplemental_disease_name DISEASE_NAME:ndufa12_related_disorder NDUFA12-related disorder Supplemental_disease_name DISEASE_NAME:ndufa13_related_disorder NDUFA13-related disorder Supplemental_disease_name DISEASE_NAME:ndufa1_related_disorder NDUFA1-related disorder Supplemental_disease_name DISEASE_NAME:ndufa2_related_disorder NDUFA2-related disorder Supplemental_disease_name DISEASE_NAME:ndufa4_related_disorder NDUFA4-related disorder Supplemental_disease_name DISEASE_NAME:ndufa6_related_disorder NDUFA6-related disorder Supplemental_disease_name DISEASE_NAME:ndufa9_related_disorder NDUFA9-related disorder Supplemental_disease_name DISEASE_NAME:ndufaf1_related_disorder NDUFAF1-related disorder Supplemental_disease_name DISEASE_NAME:ndufaf2_related_disorder NDUFAF2-related disorder Supplemental_disease_name DISEASE_NAME:ndufaf3_related_disorder NDUFAF3-related disorder Supplemental_disease_name DISEASE_NAME:ndufaf4_related_disorder NDUFAF4-related disorder Supplemental_disease_name DISEASE_NAME:ndufaf5_related_disorder NDUFAF5-related disorder Supplemental_disease_name DISEASE_NAME:ndufaf6_related_disorder NDUFAF6-related disorder Supplemental_disease_name DISEASE_NAME:ndufaf8_related_disorder NDUFAF8-related disorder Supplemental_disease_name DISEASE_NAME:ndufb10_related_disorder NDUFB10-related disorder Supplemental_disease_name DISEASE_NAME:ndufb11_related_disorders NDUFB11-related disorders Supplemental_disease_name DISEASE_NAME:ndufb8_related_disorder NDUFB8-related disorder Supplemental_disease_name DISEASE_NAME:ndufb9_related_disorder NDUFB9-related disorder Supplemental_disease_name DISEASE_NAME:ndufs1_related_disorder NDUFS1-related disorder Supplemental_disease_name DISEASE_NAME:ndufs2_related_disorder NDUFS2-related disorder Supplemental_disease_name DISEASE_NAME:ndufs3_related_disorder NDUFS3-related disorder Supplemental_disease_name DISEASE_NAME:ndufs4_related_disorder NDUFS4-related disorder Supplemental_disease_name DISEASE_NAME:ndufs6_related_disorder NDUFS6-related disorder Supplemental_disease_name DISEASE_NAME:ndufs7_related_disorder NDUFS7-related disorder Supplemental_disease_name DISEASE_NAME:ndufs8_related_disorder NDUFS8-related disorder Supplemental_disease_name DISEASE_NAME:ndufv1_related_disorder NDUFV1-related disorder Supplemental_disease_name DISEASE_NAME:ndufv2_related_disorder NDUFV2-related disorder Supplemental_disease_name DISEASE_NAME:ndufv3_related_disorder NDUFV3-related disorder Supplemental_disease_name DISEASE_NAME:neb_related_disorder NEB-related disorder Supplemental_disease_name DISEASE_NAME:nebl_related_cardiomyopathy NEBL-related Cardiomyopathy Supplemental_disease_name DISEASE_NAME:nebl_related_disorder NEBL-related disorder Supplemental_disease_name DISEASE_NAME:nebulin_related_early_onset_distal_myopathy Nebulin-related early-onset distal myopathy Supplemental_disease_name DISEASE_NAME:necap1_related_disorder NECAP1-related disorder Supplemental_disease_name DISEASE_NAME:neck_squamous_cell_carcinoma Neck squamous cell carcinoma Supplemental_disease_name DISEASE_NAME:nectin1_related_disorder NECTIN1-related disorder Supplemental_disease_name DISEASE_NAME:nectin2_related_disorder NECTIN2-related disorder Supplemental_disease_name DISEASE_NAME:nectin3_related_disorder NECTIN3-related disorder Supplemental_disease_name DISEASE_NAME:nectin4_related_disorder NECTIN4-related disorder Supplemental_disease_name DISEASE_NAME:nedd4_related_disorder NEDD4-related disorder Supplemental_disease_name DISEASE_NAME:nedd4l_related_disorder NEDD4L-related disorder Supplemental_disease_name DISEASE_NAME:nedd9_related_disorder NEDD9-related disorder Supplemental_disease_name DISEASE_NAME:nefh_related_disorder NEFH-related disorder Supplemental_disease_name DISEASE_NAME:nefl_related_disorder NEFL-related disorder Supplemental_disease_name DISEASE_NAME:negr1_related_disorder NEGR1-related disorder Supplemental_disease_name DISEASE_NAME:neil1_related_disorder NEIL1-related disorder Supplemental_disease_name DISEASE_NAME:nek10_related_disorder NEK10-related disorder Supplemental_disease_name DISEASE_NAME:nek1_related_disorder NEK1-related disorder Supplemental_disease_name DISEASE_NAME:nek2_related_disorder NEK2-related disorder Supplemental_disease_name DISEASE_NAME:nek8_related_disorder NEK8-related disorder Supplemental_disease_name DISEASE_NAME:nek9_related_disorder NEK9-related disorder Supplemental_disease_name DISEASE_NAME:nek9_related_lethal_skeletal_dysplasia NEK9-related lethal skeletal dysplasia Supplemental_disease_name DISEASE_NAME:nelfa_related_disorder NELFA-related disorder Supplemental_disease_name DISEASE_NAME:nemaline_myopathy_2_arthrogryposis_multiplex_congenita_6 Nemaline myopathy 2;Arthrogryposis multiplex congenita 6 Supplemental_disease_name DISEASE_NAME:nemaline_myopathy_2_nemaline_myopathy Nemaline myopathy 2;Nemaline myopathy Supplemental_disease_name DISEASE_NAME:nemaline_myopathy_5 Nemaline myopathy 5 Supplemental_disease_name DISEASE_NAME:nemaline_myopathy_5_nemaline_myopathy_5b_autosomal_recessive_childhood_onset Nemaline myopathy 5;Nemaline myopathy 5B, autosomal recessive, childhood-onset Supplemental_disease_name DISEASE_NAME:nemaline_myopathy_5_nemaline_myopathy_5c_autosomal_dominant_nemaline_myopathy_5b_autosomal_recessive_childhood_onset Nemaline myopathy 5;Nemaline myopathy 5C, autosomal dominant;Nemaline myopathy 5B, autosomal recessive, childhood-onset Supplemental_disease_name DISEASE_NAME:nemaline_myopathy_5b_autosomal_recessive_childhood_onset Nemaline myopathy 5B, autosomal recessive, childhood-onset Supplemental_disease_name DISEASE_NAME:nemaline_myopathy_5c_autosomal_dominant Nemaline myopathy 5C, autosomal dominant Supplemental_disease_name DISEASE_NAME:nemf_related_disorder NEMF-related disorder Supplemental_disease_name DISEASE_NAME:nemo_deleted_exon_5_autoinflammatory_syndrome_nemo_ndas NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS) Supplemental_disease_name DISEASE_NAME:neo1_related_disorder NEO1-related disorder Supplemental_disease_name DISEASE_NAME:neonatal_adrenoleucodystrophy Neonatal adrenoleucodystrophy Supplemental_disease_name DISEASE_NAME:neonatal_alloimmune_thrombocytopenia Neonatal alloimmune thrombocytopenia Supplemental_disease_name DISEASE_NAME:neonatal_cardiomyopathy Neonatal cardiomyopathy Supplemental_disease_name DISEASE_NAME:neonatal_death Neonatal death Supplemental_disease_name DISEASE_NAME:neonatal_death_severe_primary_microcephaly Neonatal death;Severe primary microcephaly Supplemental_disease_name DISEASE_NAME:neonatal_developmental_and_epileptic_encephalopathy_with_movement_disorders_and_arthrogryposis_ndeema Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA) Supplemental_disease_name DISEASE_NAME:neonatal_encephalomyopathy_cardiomyopathy_respiratory_distress_syndrome_spastic_ataxia_10_autosomal_recessive Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome;Spastic ataxia 10, autosomal recessive Supplemental_disease_name DISEASE_NAME:neonatal_encephalopathy Neonatal encephalopathy Supplemental_disease_name DISEASE_NAME:neonatal_hemochromatosis Neonatal hemochromatosis Supplemental_disease_name DISEASE_NAME:neonatal_hypoglycemia Neonatal hypoglycemia Supplemental_disease_name DISEASE_NAME:neonatal_hypotonia Neonatal hypotonia Supplemental_disease_name DISEASE_NAME:neonatal_hypotonia_hypertrichosis_global_developmental_delay_corpus_callosum_agenesis_of_nail_dysplasia Neonatal hypotonia;Hypertrichosis;Global developmental delay;Corpus callosum, agenesis of;Nail dysplasia Supplemental_disease_name DISEASE_NAME:neonatal_ichthyosis_sclerosing_cholangitis_syndrome Neonatal ichthyosis-sclerosing cholangitis syndrome Supplemental_disease_name DISEASE_NAME:neonatal_infantile_epilepsy_syndrome Neonatal/infantile epilepsy syndrome Supplemental_disease_name DISEASE_NAME:neonatal_inflammatory_skin_and_bowel_disease Neonatal inflammatory skin and bowel disease Supplemental_disease_name DISEASE_NAME:neonatal_insulin_dependent_diabetes_mellitus Neonatal insulin-dependent diabetes mellitus Supplemental_disease_name DISEASE_NAME:neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency Neonatal intrahepatic cholestasis due to citrin deficiency Supplemental_disease_name DISEASE_NAME:neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency_citrullinemia_type_ii_adult_onset Neonatal intrahepatic cholestasis due to citrin deficiency;Citrullinemia, type II, adult-onset Supplemental_disease_name DISEASE_NAME:neonatal_lactic_acidosis neonatal lactic acidosis Supplemental_disease_name DISEASE_NAME:neonatal_marfan_syndrome Neonatal Marfan syndrome Supplemental_disease_name DISEASE_NAME:neonatal_onset_encephalopathy_with_rigidity_and_seizures Neonatal-onset encephalopathy with rigidity and seizures Supplemental_disease_name DISEASE_NAME:neonatal_onset_encephalopathy_with_rigidity_and_seizures_neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures Neonatal-onset encephalopathy with rigidity and seizures;Neurodevelopmental disorder with cerebellar atrophy and with or without seizures Supplemental_disease_name DISEASE_NAME:neonatal_pseudo_hydrocephalic_progeroid_syndrome Neonatal pseudo-hydrocephalic progeroid syndrome Supplemental_disease_name DISEASE_NAME:neonatal_pseudo_hydrocephalic_progeroid_syndrome_hypomyelination_hypogonadotropic_hypogonadism_hypodontia_syndrome Neonatal pseudo-hydrocephalic progeroid syndrome;Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Supplemental_disease_name DISEASE_NAME:neonatal_pseudo_hydrocephalic_progeroid_syndrome_leukodystrophy_hypomyelinating_7_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism Neonatal pseudo-hydrocephalic progeroid syndrome;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:neonatal_respiratory_distress Neonatal respiratory distress Supplemental_disease_name DISEASE_NAME:neonatal_seizure Neonatal seizure Supplemental_disease_name DISEASE_NAME:neonatal_severe_primary_hyperparathyroidism Neonatal severe primary hyperparathyroidism Supplemental_disease_name DISEASE_NAME:neonatal_severe_primary_hyperparathyroidism_autosomal_dominant_hypocalcemia_1_bartter_syndrome_with_hypocalcemia_familial_hypocalciuric_hypercalcemia Neonatal severe primary hyperparathyroidism;Autosomal dominant hypocalcemia 1;Bartter syndrome with hypocalcemia;Familial hypocalciuric hypercalcemia Supplemental_disease_name DISEASE_NAME:neonatal_severe_primary_hyperparathyroidism_autosomal_dominant_hypocalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8_familial_hypocalciuric_hypercalcemia_1 Neonatal severe primary hyperparathyroidism;Autosomal dominant hypocalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8;Familial hypocalciuric hypercalcemia 1 Supplemental_disease_name DISEASE_NAME:neonatal_severe_primary_hyperparathyroidism_autosomal_dominant_hypocalcemia_1_familial_hypocalciuric_hypercalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8 Neonatal severe primary hyperparathyroidism;Autosomal dominant hypocalcemia 1;Familial hypocalciuric hypercalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:neonatal_severe_primary_hyperparathyroidism_epilepsy_idiopathic_generalized_susceptibility_to_8_autosomal_dominant_hypocalcemia_1_familial_hypocalciuric_hypercalcemia_1 Neonatal severe primary hyperparathyroidism;Epilepsy, idiopathic generalized, susceptibility to, 8;Autosomal dominant hypocalcemia 1;Familial hypocalciuric hypercalcemia 1 Supplemental_disease_name DISEASE_NAME:neonatal_severe_primary_hyperparathyroidism_epilepsy_idiopathic_generalized_susceptibility_to_8_familial_hypocalciuric_hypercalcemia_1_autosomal_dominant_hypocalcemia_1 Neonatal severe primary hyperparathyroidism;Epilepsy, idiopathic generalized, susceptibility to, 8;Familial hypocalciuric hypercalcemia 1;Autosomal dominant hypocalcemia 1 Supplemental_disease_name DISEASE_NAME:neonatal_severe_primary_hyperparathyroidism_familial_hypocalciuric_hypercalcemia_1_autosomal_dominant_hypocalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8 Neonatal severe primary hyperparathyroidism;Familial hypocalciuric hypercalcemia 1;Autosomal dominant hypocalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:neonatal_severe_primary_hyperparathyroidism_familial_hypocalciuric_hypercalcemia_1_epilepsy_idiopathic_generalized_susceptibility_to_8_autosomal_dominant_hypocalcemia_1 Neonatal severe primary hyperparathyroidism;Familial hypocalciuric hypercalcemia 1;Epilepsy, idiopathic generalized, susceptibility to, 8;Autosomal dominant hypocalcemia 1 Supplemental_disease_name DISEASE_NAME:neoplasm_of_ovary Neoplasm of ovary Supplemental_disease_name DISEASE_NAME:neoplasm_of_stomach Neoplasm of stomach Supplemental_disease_name DISEASE_NAME:neoplasm_of_stomach_familial_adenomatous_polyposis_1_hepatocellular_carcinoma_carcinoma_of_colon_desmoid_disease_hereditary Neoplasm of stomach;Familial adenomatous polyposis 1;Hepatocellular carcinoma;Carcinoma of colon;Desmoid disease, hereditary Supplemental_disease_name DISEASE_NAME:neoplasm_of_stomach_familial_adenomatous_polyposis_2 Neoplasm of stomach;Familial adenomatous polyposis 2 Supplemental_disease_name DISEASE_NAME:neoplasm_of_stomach_pilomatrixoma_familial_adenomatous_polyposis_2 Neoplasm of stomach;Pilomatrixoma;Familial adenomatous polyposis 2 Supplemental_disease_name DISEASE_NAME:neoplasm_of_the_breast Neoplasm of the breast Supplemental_disease_name DISEASE_NAME:neoplasm_of_the_endocrine_system Neoplasm of the endocrine system Supplemental_disease_name DISEASE_NAME:neoplasm_of_the_liver Neoplasm of the liver Supplemental_disease_name DISEASE_NAME:neoplasm_of_the_pancreas Neoplasm of the pancreas Supplemental_disease_name DISEASE_NAME:neoplasm_of_the_skin Neoplasm of the skin Supplemental_disease_name DISEASE_NAME:nephrocalcinosis_kidney_stone Nephrocalcinosis;Kidney stone Supplemental_disease_name DISEASE_NAME:nephrocalcinosis_polydactyly_postaxial_type_a1 Nephrocalcinosis;Polydactyly, postaxial, type A1 Supplemental_disease_name DISEASE_NAME:nephrogenic_syndrome_of_inappropriate_antidiuresis_diabetes_insipidus_nephrogenic_x_linked Nephrogenic syndrome of inappropriate antidiuresis;Diabetes insipidus, nephrogenic, X-linked Supplemental_disease_name DISEASE_NAME:nephrolithiasis_calcium_oxalate Nephrolithiasis, calcium oxalate Supplemental_disease_name DISEASE_NAME:nephrolithiasis_calcium_oxalate_2_with_or_without_nephrocalcinosis Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis Supplemental_disease_name DISEASE_NAME:nephrolithiasis_nephrocalcinosis Nephrolithiasis/nephrocalcinosis Supplemental_disease_name DISEASE_NAME:nephrolithiasis_susceptibility_caused_by_slc26a1 Nephrolithiasis susceptibility caused by SLC26A1 Supplemental_disease_name DISEASE_NAME:nephrolithiasis_susceptibility_caused_by_slc26a1_hypersulfaturia Nephrolithiasis susceptibility caused by SLC26A1;Hypersulfaturia Supplemental_disease_name DISEASE_NAME:nephrolithiasis_uric_acid_susceptibility_to Nephrolithiasis, uric acid, susceptibility to Supplemental_disease_name DISEASE_NAME:nephronophthisis_11_coach_syndrome_1_joubert_syndrome_6_rhyns_syndrome Nephronophthisis 11;COACH syndrome 1;Joubert syndrome 6;RHYNS syndrome Supplemental_disease_name DISEASE_NAME:nephronophthisis_11_meckel_syndrome_type_3_coach_syndrome_1_joubert_syndrome_6 Nephronophthisis 11;Meckel syndrome, type 3;COACH syndrome 1;Joubert syndrome 6 Supplemental_disease_name DISEASE_NAME:nephronophthisis_12_asphyxiating_thoracic_dystrophy_4 Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 Supplemental_disease_name DISEASE_NAME:nephronophthisis_13_asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4_spermatogenic_failure_72_senior_loken_syndrome_8 Nephronophthisis 13;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4;Spermatogenic failure 72;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:nephronophthisis_13_cranioectodermal_dysplasia_4_senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_spermatogenic_failure_72 Nephronophthisis 13;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Spermatogenic failure 72 Supplemental_disease_name DISEASE_NAME:nephronophthisis_13_cranioectodermal_dysplasia_4_senior_loken_syndrome_8_spermatogenic_failure_72_asphyxiating_thoracic_dystrophy_5 Nephronophthisis 13;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Spermatogenic failure 72;Asphyxiating thoracic dystrophy 5 Supplemental_disease_name DISEASE_NAME:nephronophthisis_13_senior_loken_syndrome_8 Nephronophthisis 13;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:nephronophthisis_13_senior_loken_syndrome_8_spermatogenic_failure_72_asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4 Nephronophthisis 13;Senior-Loken syndrome 8;Spermatogenic failure 72;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4 Supplemental_disease_name DISEASE_NAME:nephronophthisis_13_spermatogenic_failure_72_cranioectodermal_dysplasia_4_asphyxiating_thoracic_dystrophy_5_senior_loken_syndrome_8 Nephronophthisis 13;Spermatogenic failure 72;Cranioectodermal dysplasia 4;Asphyxiating thoracic dystrophy 5;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:nephronophthisis_19_autosomal_recessive_nonsyndromic_hearing_loss_66 Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66 Supplemental_disease_name DISEASE_NAME:nephronophthisis_19_autosomal_recessive_nonsyndromic_hearing_loss_66_isolated_neonatal_sclerosing_cholangitis Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis Supplemental_disease_name DISEASE_NAME:nephronophthisis_19_isolated_neonatal_sclerosing_cholangitis_autosomal_recessive_nonsyndromic_hearing_loss_66 Nephronophthisis 19;Isolated neonatal sclerosing cholangitis;Autosomal recessive nonsyndromic hearing loss 66 Supplemental_disease_name DISEASE_NAME:nephronophthisis_1_joubert_syndrome_with_renal_defect_senior_loken_syndrome_1 Nephronophthisis 1;Joubert syndrome with renal defect;Senior-Loken syndrome 1 Supplemental_disease_name DISEASE_NAME:nephronophthisis_1_senior_loken_syndrome_1_joubert_syndrome_with_renal_defect Nephronophthisis 1;Senior-Loken syndrome 1;Joubert syndrome with renal defect Supplemental_disease_name DISEASE_NAME:nephronophthisis_1_senior_loken_syndrome_3 Nephronophthisis 1;Senior-loken syndrome 3 Supplemental_disease_name DISEASE_NAME:nephronophthisis_3_nphp3_related_meckel_like_syndrome_renal_hepatic_pancreatic_dysplasia_1 Nephronophthisis 3;NPHP3-related Meckel-like syndrome;Renal-hepatic-pancreatic dysplasia 1 Supplemental_disease_name DISEASE_NAME:nephronophthisis_3_renal_hepatic_pancreatic_dysplasia_1_nphp3_related_meckel_like_syndrome Nephronophthisis 3;Renal-hepatic-pancreatic dysplasia 1;NPHP3-related Meckel-like syndrome Supplemental_disease_name DISEASE_NAME:nephronophthisis_4_senior_loken_syndrome_4 Nephronophthisis 4;Senior-Loken syndrome 4 Supplemental_disease_name DISEASE_NAME:nephronophthisis_4_senior_loken_syndrome_4_focal_segmental_glomerulosclerosis Nephronophthisis 4;Senior-Loken syndrome 4;Focal segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:nephronophthisis_8 Nephronophthisis 8 Supplemental_disease_name DISEASE_NAME:nephronophthisis_9_polycystic_kidney_disease_8_renal_hepatic_pancreatic_dysplasia_2 Nephronophthisis 9;Polycystic kidney disease 8;Renal-hepatic-pancreatic dysplasia 2 Supplemental_disease_name DISEASE_NAME:nephronophthisis_9_renal_hepatic_pancreatic_dysplasia_2 Nephronophthisis 9;Renal-hepatic-pancreatic dysplasia 2 Supplemental_disease_name DISEASE_NAME:nephronophthisis_9_renal_hepatic_pancreatic_dysplasia_2_polycystic_kidney_disease_8 Nephronophthisis 9;Renal-hepatic-pancreatic dysplasia 2;Polycystic kidney disease 8 Supplemental_disease_name DISEASE_NAME:nephronophthisis_jeune_thoracic_dystrophy Nephronophthisis;Jeune thoracic dystrophy Supplemental_disease_name DISEASE_NAME:nephronophthisis_joubert_syndrome_meckel_gruber_syndrome Nephronophthisis;Joubert syndrome;Meckel-Gruber syndrome Supplemental_disease_name DISEASE_NAME:nephronophthisis_like_nephropathy_2 Nephronophthisis-like nephropathy 2 Supplemental_disease_name DISEASE_NAME:nephronophthisis_meckel_gruber_syndrome_joubert_syndrome Nephronophthisis;Meckel-Gruber syndrome;Joubert syndrome Supplemental_disease_name DISEASE_NAME:nephropathic_cystinosis Nephropathic cystinosis Supplemental_disease_name DISEASE_NAME:nephropathic_cystinosis_juvenile_nephropathic_cystinosis_ocular_cystinosis Nephropathic cystinosis;Juvenile nephropathic cystinosis;Ocular cystinosis Supplemental_disease_name DISEASE_NAME:nephropathic_cystinosis_ocular_cystinosis_juvenile_nephropathic_cystinosis Nephropathic cystinosis;Ocular cystinosis;Juvenile nephropathic cystinosis Supplemental_disease_name DISEASE_NAME:nephropathy_chronic_tubulointerstitial Nephropathy, chronic tubulointerstitial Supplemental_disease_name DISEASE_NAME:nephrotic_range_proteinuria Nephrotic range proteinuria Supplemental_disease_name DISEASE_NAME:nephrotic_range_proteinuria_steroid_resistant_nephrotic_syndrome_congenital_nephrotic_syndrome Nephrotic range proteinuria;Steroid-resistant nephrotic syndrome;Congenital nephrotic syndrome Supplemental_disease_name DISEASE_NAME:nephrotic_syndrome_14 Nephrotic syndrome 14 Supplemental_disease_name DISEASE_NAME:nephrotic_syndrome_15 Nephrotic syndrome 15 Supplemental_disease_name DISEASE_NAME:nephrotic_syndrome_16 Nephrotic syndrome 16 Supplemental_disease_name DISEASE_NAME:nephrotic_syndrome_16_wooly_hair_palmoplantar_keratoderma_syndrome Nephrotic syndrome 16;Wooly hair-palmoplantar keratoderma syndrome Supplemental_disease_name DISEASE_NAME:nephrotic_syndrome_iia_26 Nephrotic syndrome, IIa 26 Supplemental_disease_name DISEASE_NAME:nephrotic_syndrome_iia_26_bent_bone_dysplasia_syndrome_2 Nephrotic syndrome, IIa 26;Bent bone dysplasia syndrome 2 Supplemental_disease_name DISEASE_NAME:nephrotic_syndrome_type_11_ovarian_dysgenesis_6_galloway_mowat_syndrome_7 Nephrotic syndrome, type 11;Ovarian dysgenesis 6;Galloway-Mowat syndrome 7 Supplemental_disease_name DISEASE_NAME:nephrotic_syndrome_type_21_fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3 Nephrotic syndrome, type 21;Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Supplemental_disease_name DISEASE_NAME:nepro_related_disorder NEPRO-related disorder Supplemental_disease_name DISEASE_NAME:neu1_related_disorder NEU1-related disorder Supplemental_disease_name DISEASE_NAME:neu_laxova_syndrome Neu-Laxova syndrome Supplemental_disease_name DISEASE_NAME:neu_laxova_syndrome_1_phgdh_deficiency Neu-Laxova syndrome 1;PHGDH deficiency Supplemental_disease_name DISEASE_NAME:neu_laxova_syndrome_2_psat_deficiency Neu-Laxova syndrome 2;PSAT deficiency Supplemental_disease_name DISEASE_NAME:neural_tube_defects_folate_sensitive Neural tube defects, folate-sensitive Supplemental_disease_name DISEASE_NAME:neural_tube_defects_folate_sensitive_combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia Neural tube defects, folate-sensitive;Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Supplemental_disease_name DISEASE_NAME:neural_tube_defects_folate_sensitive_methylcobalamin_deficiency_type_cble Neural tube defects, folate-sensitive;Methylcobalamin deficiency type cblE Supplemental_disease_name DISEASE_NAME:neural_tube_defects_folate_sensitive_methylcobalamin_deficiency_type_cblg Neural tube defects, folate-sensitive;Methylcobalamin deficiency type cblG Supplemental_disease_name DISEASE_NAME:neural_tube_defects_folate_sensitive_schizophrenia_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_thrombophilia_due_to_thrombin_defect Neural tube defects, folate-sensitive;Schizophrenia;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:neural_tube_defects_folate_sensitive_schizophrenia_thrombophilia_due_to_thrombin_defect_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency Neural tube defects, folate-sensitive;Schizophrenia;Thrombophilia due to thrombin defect;Homocystinuria due to methylene tetrahydrofolate reductase deficiency Supplemental_disease_name DISEASE_NAME:neural_tube_defects_folate_sensitive_susceptibility_to Neural tube defects, folate-sensitive, susceptibility to Supplemental_disease_name DISEASE_NAME:neural_tube_defects_folate_sensitive_thrombophilia_due_to_thrombin_defect_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_schizophrenia Neural tube defects, folate-sensitive;Thrombophilia due to thrombin defect;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Schizophrenia Supplemental_disease_name DISEASE_NAME:neural_tube_defects_susceptibility_to Neural tube defects, susceptibility to Supplemental_disease_name DISEASE_NAME:neural_tube_defects_susceptibility_to_sacral_defect_with_anterior_meningocele Neural tube defects, susceptibility to;Sacral defect with anterior meningocele Supplemental_disease_name DISEASE_NAME:neurl4_related_disorder NEURL4-related disorder Supplemental_disease_name DISEASE_NAME:neuro_ectodermal_phenotype neuro-ectodermal phenotype Supplemental_disease_name DISEASE_NAME:neuroblastoma_pheochromocytoma_charcot_marie_tooth_disease_type_2a1 Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease type 2A1 Supplemental_disease_name DISEASE_NAME:neuroblastoma_susceptibility_to_1 Neuroblastoma, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:neuroblastoma_susceptibility_to_1_charcot_marie_tooth_disease_type_2a1 Neuroblastoma, susceptibility to, 1;Charcot-Marie-Tooth disease type 2A1 Supplemental_disease_name DISEASE_NAME:neuroblastoma_susceptibility_to_1_included NEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED Supplemental_disease_name DISEASE_NAME:neuroblastoma_susceptibility_to_2 Neuroblastoma, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:neuroblastoma_susceptibility_to_2_central_hypoventilation_syndrome_congenital_1_with_or_without_hirschsprung_disease Neuroblastoma, susceptibility to, 2;Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Supplemental_disease_name DISEASE_NAME:neuroblastoma_susceptibility_to_3 Neuroblastoma, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:neuroblastoma_susceptibility_to_7 Neuroblastoma, susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:neurocardiofaciodigital_syndrome Neurocardiofaciodigital syndrome Supplemental_disease_name DISEASE_NAME:neurocutaneous_melanocytosis Neurocutaneous melanocytosis Supplemental_disease_name DISEASE_NAME:neurocutaneous_syndrome Neurocutaneous syndrome Supplemental_disease_name DISEASE_NAME:neurod1_related_disorder NEUROD1-related disorder Supplemental_disease_name DISEASE_NAME:neurod2_related_disorder NEUROD2-related disorder Supplemental_disease_name DISEASE_NAME:neurodegeneration Neurodegeneration Supplemental_disease_name DISEASE_NAME:neurodegeneration_abnormal_cerebral_white_matter_morphology_hyperammonemia_intellectual_disability Neurodegeneration;Abnormal cerebral white matter morphology;Hyperammonemia;Intellectual disability Supplemental_disease_name DISEASE_NAME:neurodegeneration_and_seizures_due_to_copper_transport_defect Neurodegeneration and seizures due to copper transport defect Supplemental_disease_name DISEASE_NAME:neurodegeneration_autism_photosensitive_tonic_clonic_seizure_severe_intellectual_disability Neurodegeneration;Autism;Photosensitive tonic-clonic seizure;Severe intellectual disability Supplemental_disease_name DISEASE_NAME:neurodegeneration_blindness Neurodegeneration;Blindness Supplemental_disease_name DISEASE_NAME:neurodegeneration_childhood_onset_stress_induced_with_variable_ataxia_and_seizures Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures Supplemental_disease_name DISEASE_NAME:neurodegeneration_childhood_onset_with_ataxia_tremor_optic_atrophy_and_cognitive_decline Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline Supplemental_disease_name DISEASE_NAME:neurodegeneration_childhood_onset_with_cerebellar_ataxia_and_cognitive_decline Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline Supplemental_disease_name DISEASE_NAME:neurodegeneration_childhood_onset_with_cerebellar_atrophy Neurodegeneration, childhood-onset, with cerebellar atrophy Supplemental_disease_name DISEASE_NAME:neurodegeneration_childhood_onset_with_hypotonia_respiratory_insufficiency_and_brain_imaging_abnormalities Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities Supplemental_disease_name DISEASE_NAME:neurodegeneration_childhood_onset_with_multisystem_involvement_due_to_mitochondrial_dysfunction Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction Supplemental_disease_name DISEASE_NAME:neurodegeneration_childhood_onset_with_progressive_microcephaly Neurodegeneration, childhood-onset, with progressive microcephaly Supplemental_disease_name DISEASE_NAME:neurodegeneration_due_to_3_hydroxyisobutyryl_coenzyme_a_hydrolase_deficiency Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency Supplemental_disease_name DISEASE_NAME:neurodegeneration_early_onset_with_choreoathetoid_movements_and_microcytic_anemia Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia Supplemental_disease_name DISEASE_NAME:neurodegeneration_early_onset_with_choreoathetosis_and_microcytic_anemia NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA Supplemental_disease_name DISEASE_NAME:neurodegeneration_infantile_onset_biotin_responsive Neurodegeneration, infantile-onset, biotin-responsive Supplemental_disease_name DISEASE_NAME:neurodegeneration_infantile_onset_biotin_responsive_peripheral_motor_neuropathy_childhood_onset_biotin_responsive Neurodegeneration, infantile-onset, biotin-responsive;Peripheral motor neuropathy, childhood-onset, biotin-responsive Supplemental_disease_name DISEASE_NAME:neurodegeneration_infantile_onset_with_optic_atrophy_and_brain_abnormalities Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodegeneration_progressive_microcephaly_global_developmental_delay_brain_atrophy_central_hypoventilation Neurodegeneration;Progressive microcephaly;Global developmental delay;Brain atrophy;Central hypoventilation Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_ataxia Neurodegeneration with ataxia Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_ataxia_and_late_onset_optic_atrophy Neurodegeneration with ataxia and late-onset optic atrophy Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_dilated_cardiomyopathy_1gg_mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5 Neurodegeneration with ataxia and late-onset optic atrophy;Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5_mitochondrial_complex_ii_deficiency_nuclear_type_1 Neurodegeneration with ataxia and late-onset optic atrophy;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg_pheochromocytoma_paraganglioma_syndrome_5 Neurodegeneration with ataxia and late-onset optic atrophy;Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_mitochondrial_complex_ii_deficiency_nuclear_type_1_pheochromocytoma_paraganglioma_syndrome_5_dilated_cardiomyopathy_1gg Neurodegeneration with ataxia and late-onset optic atrophy;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_pheochromocytoma_paraganglioma_syndrome_5_dilated_cardiomyopathy_1gg_mitochondrial_complex_ii_deficiency_nuclear_type_1 Neurodegeneration with ataxia and late-onset optic atrophy;Pheochromocytoma/paraganglioma syndrome 5;Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_brain_iron_accumulation_2b_autosomal_recessive_parkinson_disease_14_infantile_neuroaxonal_dystrophy Neurodegeneration with brain iron accumulation 2B;Autosomal recessive Parkinson disease 14;Infantile neuroaxonal dystrophy Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_brain_iron_accumulation_2b_infantile_neuroaxonal_dystrophy Neurodegeneration with brain iron accumulation 2B;Infantile neuroaxonal dystrophy Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_brain_iron_accumulation_4_hereditary_spastic_paraplegia_43 Neurodegeneration with brain iron accumulation 4;Hereditary spastic paraplegia 43 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_brain_iron_accumulation_5_oculocutaneous_albinism_type_7 Neurodegeneration with brain iron accumulation 5;Oculocutaneous albinism type 7 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_brain_iron_accumulation_6_pontocerebellar_hypoplasia_type_12 Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_brain_iron_accumulation_7 Neurodegeneration with brain iron accumulation 7 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_brain_iron_accumulation_8 Neurodegeneration with brain iron accumulation 8 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_brain_iron_accumulation_9 Neurodegeneration with brain iron accumulation 9 Supplemental_disease_name DISEASE_NAME:neurodegeneration_with_developmental_delay_early_respiratory_failure_myoclonic_seizures_and_brain_abnormalities Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodegenerative_disorder_x_linked_female_restricted_with_parkinsonism_and_cognitive_impairment Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment Supplemental_disease_name DISEASE_NAME:neurodegenerative_illness_progressing_to_crippling_dystonia_and_death_with_relentless_cerebral_atrophy Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy Supplemental_disease_name DISEASE_NAME:neurodevelopmental_abnormality Neurodevelopmental abnormality Supplemental_disease_name DISEASE_NAME:neurodevelopmental_abnormality_abnormal_facial_shape_abnormality_of_blood_and_blood_forming_tissues_abnormality_of_the_immune_system_postnatal_growth_retardation Neurodevelopmental abnormality;Abnormal facial shape;Abnormality of blood and blood-forming tissues;Abnormality of the immune system;Postnatal growth retardation Supplemental_disease_name DISEASE_NAME:neurodevelopmental_abnormality_autistic_behavior Neurodevelopmental abnormality;Autistic behavior Supplemental_disease_name DISEASE_NAME:neurodevelopmental_abnormality_decreased_total_neutrophil_count Neurodevelopmental abnormality;Decreased total neutrophil count Supplemental_disease_name DISEASE_NAME:neurodevelopmental_abnormality_postnatal_growth_retardation_abnormal_facial_shape_abnormality_of_blood_and_blood_forming_tissues_abnormality_of_the_immune_system Neurodevelopmental abnormality;Postnatal growth retardation;Abnormal facial shape;Abnormality of blood and blood-forming tissues;Abnormality of the immune system Supplemental_disease_name DISEASE_NAME:neurodevelopmental_abnormality_postnatal_growth_retardation_abnormality_of_blood_and_blood_forming_tissues_abnormality_of_the_immune_system_abnormal_facial_shape Neurodevelopmental abnormality;Postnatal growth retardation;Abnormality of blood and blood-forming tissues;Abnormality of the immune system;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:neurodevelopmental_abnormality_seizure Neurodevelopmental abnormality;Seizure Supplemental_disease_name DISEASE_NAME:neurodevelopmental_and_congenital_anomalies Neurodevelopmental and congenital anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_craniofacial_syndrome_with_variable_renal_and_cardiac_abnormalities Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_cerebral_palsy_hearing_impairment Neurodevelopmental delay;Cerebral palsy;Hearing impairment Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_focal_segmental_glomerulosclerosis_seizure Neurodevelopmental delay;Focal segmental glomerulosclerosis;Seizure Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_hand_polydactyly_syndactyly Neurodevelopmental delay;Hand polydactyly;Syndactyly Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_intellectual_disability Neurodevelopmental delay;Intellectual disability Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_lower_limb_spasticity Neurodevelopmental delay;Lower limb spasticity Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_microcephaly Neurodevelopmental delay;Microcephaly Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_multifocal_seizures Neurodevelopmental delay;Multifocal seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_seizure Neurodevelopmental delay;Seizure Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_seizure_intellectual_disability Neurodevelopmental delay;Seizure;Intellectual disability Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_skin_vesicle_hyperpigmentation_of_the_skin Neurodevelopmental delay;Skin vesicle;Hyperpigmentation of the skin Supplemental_disease_name DISEASE_NAME:neurodevelopmental_delay_with_neutropenia Neurodevelopmental delay with neutropenia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disability_hypotonia_seizure Neurodevelopmental Disability;Hypotonia;Seizure Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disability_seizure_hypotonia Neurodevelopmental Disability;Seizure;Hypotonia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_and_structural_brain_anomalies_with_or_without_seizures_and_spasticity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_mitochondrial_with_abnormal_movements_and_lactic_acidosis_with_or_without_seizures Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_mtor_related Neurodevelopmental disorder, MTOR related Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_nonprogressive_with_spasticity_and_transient_opisthotonus Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_plus_optic_atrophy Neurodevelopmental disorder plus optic atrophy Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_rabgap1_related Neurodevelopmental disorder, RABGAP1-related Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_retinal_disorder Neurodevelopmental disorder;Retinal disorder Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_absent_language_and_variable_seizures Neurodevelopmental disorder with absent language and variable seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_absent_speech_and_movement_and_behavioral_abnormalities Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_achalasia_polyneuropathy_and_alacrima Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_alopecia_and_brain_abnormalities Neurodevelopmental disorder with alopecia and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_ataxia Neurodevelopmental disorder with ataxia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_ataxia_and_brain_abnormalities Neurodevelopmental disorder with ataxia and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_ataxia_hypotonia_and_microcephaly Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_autism_and_seizures NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_autism_without_seizures NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_behavioral_abnormalities_absent_speech_and_hypotonia Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_behavioral_ear_and_skeletal_abnormalities Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_brain_abnormalities Neurodevelopmental disorder with brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_brain_anomalies_and_with_or_without_vertebral_or_cardiac_anomalies Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_brain_anomalies_and_with_or_without_vertebral_or_cardiac_anomalies_disorder_of_sexual_differentiation Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies;Disorder of sexual differentiation Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_brain_malformations_and_multiple_congenital_anomalies Neurodevelopmental disorder with brain malformations and multiple congenital anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_central_and_peripheral_motor_dysfunction Neurodevelopmental disorder with central and peripheral motor dysfunction Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_central_hypotonia_and_dysmorphic_facies Neurodevelopmental disorder with central hypotonia and dysmorphic facies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_central_hypotonia_and_dysmorphic_facies_chromosome_2q37_deletion_syndrome Neurodevelopmental disorder with central hypotonia and dysmorphic facies;Chromosome 2q37 deletion syndrome Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures Neurodevelopmental disorder with cerebellar atrophy and with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures_neonatal_onset_encephalopathy_with_rigidity_and_seizures Neurodevelopmental disorder with cerebellar atrophy and with or without seizures;Neonatal-onset encephalopathy with rigidity and seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_cerebellar_hypoplasia_and_spasticity Neurodevelopmental disorder with cerebellar hypoplasia and spasticity Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_cerebral_atrophy_and_variable_facial_dysmorphism Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_characteristic_facial_and_ectodermal_features_and_tetraparesis_1 Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_coarse_facies_and_mild_distal_skeletal_abnormalities Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_craniofacial_dysmorphism_and_skeletal_defects Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_absent_speech_and_ambulation_and_brain_abnormalities Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_and_cerebellar_hypoplasia Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies_global_developmental_delay_with_speech_and_behavioral_abnormalities Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies;Global developmental delay with speech and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_skeletal_anomalies Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_and_ischiopubic_hypoplasia Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_and_skeletal_and_brain_abnormalities Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures Neurodevelopmental disorder with dysmorphic facies and variable seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_brain_anomalies_and_seizures Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_impaired_speech_and_hypotonia Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_impaired_speech_and_hypotonia_deeah_syndrome Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia;Deeah syndrome Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dysmorphic_facies_sleep_disturbance_and_brain_abnormalities Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_dystonia_and_seizures Neurodevelopmental disorder with dystonia and seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_early_onset_parkinsonism_and_behavioral_abnormalities Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_epilepsy Neurodevelopmental disorder with epilepsy Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_epilepsy_and_brain_atrophy Neurodevelopmental disorder with epilepsy and brain atrophy Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_epilepsy_and_brain_atrophy_developmental_and_epileptic_encephalopathy_104 Neurodevelopmental disorder with epilepsy and brain atrophy;Developmental and epileptic encephalopathy 104 Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_epilepsy_and_hemochromatosis Neurodevelopmental disorder with epilepsy and hemochromatosis Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_epilepsy_and_hypoplasia_of_the_corpus_callosum Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_epilepsy_cataracts_feeding_difficulties_and_delayed_brain_myelination Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_epilepsy_spasticity_and_brain_atrophy Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_facial_dysmorphism_absent_language_and_pseudo_pelger_huet_anomaly Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_gait_disturbance_dysmorphic_facies_and_behavioral_abnormalities_x_linked Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_growth_impairment_quadriparesis_and_poor_or_absent_speech Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_growth_retardation_dysmorphic_facies_and_corpus_callosum_abnormalities Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hearing_loss_and_spasticity Neurodevelopmental disorder with hearing loss and spasticity Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hyperkinetic_movements_and_dyskinesia Neurodevelopmental disorder with hyperkinetic movements and dyskinesia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hyperkinetic_movements_and_dyskinesia_dyskinesia_with_orofacial_involvement_autosomal_dominant_dyskinesia_with_orofacial_involvement_autosomal_recessive Neurodevelopmental disorder with hyperkinetic movements and dyskinesia;Dyskinesia with orofacial involvement, autosomal dominant;Dyskinesia with orofacial involvement, autosomal recessive Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hyperkinetic_movements_and_with_or_without_seizures_autosomal_dominant NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hyperkinetic_movements_seizures_and_structural_brain_abnormalities Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hyperkinetic_movements_with_or_without_seizures_autosomal_recessive NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITH OR WITHOUT SEIZURES, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia Neurodevelopmental disorder with hypotonia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_and_autistic_features_with_or_without_hyperkinetic_movements Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_and_brain_abnormalities Neurodevelopmental disorder with hypotonia and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_and_cerebellar_atrophy_with_or_without_seizures Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_and_characteristic_brain_abnormalities Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_and_dysmorphic_facies Neurodevelopmental disorder with hypotonia and dysmorphic facies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_and_gross_motor_and_speech_delay Neurodevelopmental disorder with hypotonia and gross motor and speech delay Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_and_seizures Neurodevelopmental disorder with hypotonia and seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_and_speech_delay_with_or_without_seizures Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_and_variable_intellectual_and_behavioral_abnormalities Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_brain_anomalies_distinctive_facies_and_absent_language Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_dysmorphic_facies_and_skeletal_anomalies_with_or_without_seizures Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_dysmorphic_facies_and_skeletal_anomalies_with_or_without_seizures_cataract_50_with_or_without_glaucoma Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_dysmorphic_facies_and_skin_abnormalities Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_facial_dysmorphism_and_brain_abnormalities Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_feeding_difficulties_facial_dysmorphism_and_brain_abnormalities Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_impaired_speech_and_behavioral_abnormalities Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures_brugada_syndrome_3_long_qt_syndrome_8_timothy_syndrome Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Brugada syndrome 3;Long QT syndrome 8;Timothy syndrome Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures_brugada_syndrome_3_timothy_syndrome_long_qt_syndrome_8 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Brugada syndrome 3;Timothy syndrome;Long QT syndrome 8 Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures_timothy_syndrome_brugada_syndrome_3_long_qt_syndrome_8 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8 Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures_timothy_syndrome_long_qt_syndrome_8 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Timothy syndrome;Long QT syndrome 8 Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_microcephaly_and_seizures Neurodevelopmental disorder with hypotonia, microcephaly, and seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_neonatal_respiratory_insufficiency_and_thermodysregulation Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_neuropathy_and_deafness Neurodevelopmental disorder with hypotonia, neuropathy, and deafness Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_poor_growth_dysmorphic_facies_and_agammaglobulinemia Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_hypotonia_seizures_and_absent_language Neurodevelopmental disorder with hypotonia, seizures, and absent language Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_impaired_intellectual_development_hypotonia_and_ataxia Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_impaired_language_and_ataxia_and_with_or_without_seizures Neurodevelopmental disorder with impaired language and ataxia and with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_impaired_language_behavioral_abnormalities_and_dysmorphic_facies Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_impaired_speech_and_hyperkinetic_movements Neurodevelopmental disorder with impaired speech and hyperkinetic movements Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_infantile_epileptic_spasms Neurodevelopmental disorder with infantile epileptic spasms Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_intellectual_visual_and_language_impairment NEURODEVELOPMENTAL DISORDER WITH INTELLECTUAL, VISUAL, AND LANGUAGE IMPAIRMENT Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_intention_tremor_pyramidal_signs_dyspraxia_and_ocular_anomalies Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_intention_tremor_pyramidal_signs_dyspraxia_and_ocular_anomalies_heart_and_brain_malformation_syndrome Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies;Heart and brain malformation syndrome Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_intracranial_hemorrhage_seizures_and_spasticity Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_involuntary_movements_developmental_and_epileptic_encephalopathy_17 Neurodevelopmental disorder with involuntary movements;Developmental and epileptic encephalopathy, 17 Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_language_delay_and_behavioral_abnormalities_with_or_without_seizures Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_language_delay_and_variable_cognitive_abnormalities Neurodevelopmental disorder with language delay and variable cognitive abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_language_impairment_and_behavioral_abnormalities Neurodevelopmental disorder with language impairment and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_language_impairment_autism_and_attention_deficit_hyperactivity_disorder Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_and_dysmorphic_facies Neurodevelopmental disorder with microcephaly and dysmorphic facies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_and_dysmorphic_facies_neurodevelopmental_disorder_with_relative_macrocephaly_and_with_or_without_cardiac_or_endocrine_anomalies Neurodevelopmental disorder with microcephaly and dysmorphic facies;Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_and_movement_abnormalities Neurodevelopmental disorder with microcephaly and movement abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_and_speech_delay_with_or_without_brain_abnormalities Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_and_structural_brain_anomalies Neurodevelopmental disorder with microcephaly and structural brain anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_arthrogryposis_and_structural_brain_anomalies Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_cerebral_atrophy_and_visual_impairment Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_cortical_malformations_and_spasticity Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_epilepsy_and_hypomyelination Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_hypotonia_and_absent_language Neurodevelopmental disorder with microcephaly, hypotonia, and absent language Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_hypotonia_and_variable_brain_anomalies Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_hypotonia_nystagmus_and_seizures Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_impaired_language_and_gait_abnormalities Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_impaired_language_and_gait_abnormalities_neurodevelopmental_disorder_with_microcephaly_impaired_language_epilepsy_and_gait_abnormalities Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_impaired_language_epilepsy_and_gait_abnormalities Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_movement_abnormalities_and_seizures Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_seizures_and_brain_atrophy Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_seizures_and_neonatal_cholestasis Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_short_stature_and_speech_delay Neurodevelopmental disorder with microcephaly, short stature, and speech delay Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_microcephaly_short_stature_speech_delay_and_behavioral_abnormalities NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, AND BEHAVIORAL ABNORMALITIES Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_motor_and_speech_delay_and_behavioral_abnormalities Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_motor_regression_progressive_spastic_paraplegia_and_oromotor_dysfunction Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_movement_abnormalities_abnormal_gait_and_autistic_features Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_movement_abnormalities_abnormal_gait_and_autistic_features_acromelic_frontonasal_dysostosis Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features;Acromelic frontonasal dysostosis Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_neuromuscular_and_skeletal_abnormalities Neurodevelopmental disorder with neuromuscular and skeletal abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_nonspecific_brain_abnormalities_and_with_or_without_seizures Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain_eye_or_heart Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_autism_or_seizures_pseudohypoaldosteronism_type_2e Neurodevelopmental disorder with or without autism or seizures;Pseudohypoaldosteronism type 2E Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_autistic_features_and_or_structural_brain_abnormalities Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_early_onset_generalized_epilepsy Neurodevelopmental disorder with or without early-onset generalized epilepsy Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_dominant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_dominant_developmental_and_epileptic_encephalopathy_101_neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_recessive Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;Developmental and epileptic encephalopathy 101;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_dominant_neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_recessive Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_recessive Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_recessive_neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_dominant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_recessive_neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures_autosomal_dominant_developmental_and_epileptic_encephalopathy_101 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;Developmental and epileptic encephalopathy 101 Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_seizures_and_gait_abnormalities Neurodevelopmental disorder with or without seizures and gait abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_variable_brain_abnormalities_nedba Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_variable_movement_or_behavioral_abnormalities Neurodevelopmental disorder with or without variable movement or behavioral abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_or_without_variable_movement_or_behavioral_abnormalities_dystonia_34_myoclonic Neurodevelopmental disorder with or without variable movement or behavioral abnormalities;Dystonia 34, myoclonic Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_poor_growth Neurodevelopmental disorder with poor growth Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_poor_growth_absent_speech_progressive_ataxia_and_dysmorphic_facies Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_poor_growth_and_skeletal_anomalies Neurodevelopmental disorder with poor growth and skeletal anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_poor_growth_large_ears_and_dysmorphic_facies Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_poor_growth_seizures_and_brain_abnormalities Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_poor_language_and_loss_of_hand_skills Neurodevelopmental disorder with poor language and loss of hand skills Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_poor_language_and_loss_of_hand_skills_developmental_and_epileptic_encephalopathy_59 Neurodevelopmental disorder with poor language and loss of hand skills;Developmental and epileptic encephalopathy, 59 Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_poor_language_and_loss_of_hand_skills_developmental_and_epileptic_encephalopathy_59_tobacco_addiction_susceptibility_to Neurodevelopmental disorder with poor language and loss of hand skills;Developmental and epileptic encephalopathy, 59;Tobacco addiction, susceptibility to Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_poor_or_absent_speech_dysmorphic_facies_and_behavioral_abnormalities Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_progressive_microcephaly_spasticity_and_brain_anomalies Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_progressive_movement_abnormalities Neurodevelopmental disorder with progressive movement abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_progressive_spasticity_and_brain_abnormalities Neurodevelopmental disorder with progressive spasticity and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities_spastic_paraplegia_83_autosomal_recessive Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities;Spastic paraplegia 83, autosomal recessive Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_relative_macrocephaly_and_with_or_without_cardiac_or_endocrine_anomalies Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_relative_macrocephaly_and_with_or_without_cardiac_or_endocrine_anomalies_neurodevelopmental_disorder_with_microcephaly_and_dysmorphic_facies Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies;Neurodevelopmental disorder with microcephaly and dysmorphic facies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_seizures_and_brain_abnormalities Neurodevelopmental disorder with seizures and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_seizures_and_brain_abnormalities_neurodevelopmental_disorder_with_hypotonia_and_brain_abnormalities Neurodevelopmental disorder with seizures and brain abnormalities;Neurodevelopmental disorder with hypotonia and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_seizures_and_brain_atrophy Neurodevelopmental disorder with seizures and brain atrophy Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_seizures_and_nonepileptic_hyperkinetic_movements Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_seizures_and_speech_and_walking_impairment Neurodevelopmental disorder with seizures and speech and walking impairment Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_seizures_hypotonia_and_brain_imaging_abnormalities Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_seizures_microcephaly_and_brain_abnormalities Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_seizures_spasticity_and_complete_or_partial_agenesis_of_the_corpus_callosum Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_severe_motor_impairment_absent_language_cerebral_hypomyelination_and_brain_atrophy Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_severe_motor_impairment_and_absent_language Neurodevelopmental disorder with severe motor impairment and absent language Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_spastic_quadriplegia_and_brain_abnormalities_with_or_without_seizures Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_spasticity_cataracts_and_cerebellar_hypoplasia Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_spasticity_hypoplasia_of_the_corpus_callosum_and_recurrent_infections NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOPLASIA OF THE CORPUS CALLOSUM, AND RECURRENT INFECTIONS Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_spasticity_seizures_and_brain_abnormalities Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_speech_delay_and_variable_ocular_anomalies Neurodevelopmental disorder with speech delay and variable ocular anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_speech_impairment_and_dysmorphic_facies_epilepsy_early_onset_with_or_without_developmental_delay Neurodevelopmental disorder with speech impairment and dysmorphic facies;Epilepsy, early-onset, with or without developmental delay Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_speech_impairment_and_with_or_without_seizures Neurodevelopmental disorder with speech impairment and with or without seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_speech_or_visual_impairment_and_brain_hypomyelination Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_structural_brain_anomalies_and_dysmorphic_facies Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_thin_corpus_callosum_hypotonia_and_absent_language Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_variable_cerebral_and_eye_anomalies Neurodevelopmental disorder with variable cerebral and eye anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_variable_familial_hypercholanemia Neurodevelopmental disorder with variable familial hypercholanemia Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_visual_defects_and_brain_anomalies Neurodevelopmental disorder with visual defects and brain anomalies Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_with_white_matter_abnormalities_and_gait_disturbance Neurodevelopmental disorder with white matter abnormalities and gait disturbance Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_without_autism_or_seizures NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_without_autism_with_seizures Neurodevelopmental disorder without autism with seizures Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorder_x_linked_with_poor_or_absent_speech_and_behavioral_abnormalities NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH POOR OR ABSENT SPEECH AND BEHAVIORAL ABNORMALITIES Supplemental_disease_name DISEASE_NAME:neurodevelopmental_disorders Neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:neurodevelopmental_jaw_eye_and_digital_syndrome Neurodevelopmental, jaw, eye, and digital syndrome Supplemental_disease_name DISEASE_NAME:neurodevelopmental_phenotype Neurodevelopmental phenotype Supplemental_disease_name DISEASE_NAME:neurodevelopmental_syndrome_with_epilepsy_and_autism neurodevelopmental syndrome with epilepsy and autism Supplemental_disease_name DISEASE_NAME:neurodevelopmental_with_craniofacial_anomalies_disorder Neurodevelopmental with craniofacial anomalies disorder Supplemental_disease_name DISEASE_NAME:neuroendocrine_cancer Neuroendocrine cancer Supplemental_disease_name DISEASE_NAME:neuroendocrine_cancer_carcinoma Neuroendocrine cancer/carcinoma Supplemental_disease_name DISEASE_NAME:neuroendocrine_tumor_of_pancreas Neuroendocrine tumor of pancreas Supplemental_disease_name DISEASE_NAME:neuroepithelial_neoplasm Neuroepithelial neoplasm Supplemental_disease_name DISEASE_NAME:neuroepithelial_tumor_patz1_fusion_positive Neuroepithelial tumor, PATZ1 fusion-positive Supplemental_disease_name DISEASE_NAME:neurofacioskeletal_syndrome_with_or_without_renal_agenesis Neurofacioskeletal syndrome with or without renal agenesis Supplemental_disease_name DISEASE_NAME:neurofacioskeletal_syndrome_without_renal_agenesis NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS Supplemental_disease_name DISEASE_NAME:neuroferritinopathy_hereditary_hyperferritinemia_with_congenital_cataracts Neuroferritinopathy;Hereditary hyperferritinemia with congenital cataracts Supplemental_disease_name DISEASE_NAME:neurofibrmatosis_type_1 Neurofibrmatosis type 1 Supplemental_disease_name DISEASE_NAME:neurofibroma_abnormality_of_vision_cafe_au_lait_spots_multiple Neurofibroma;Abnormality of vision;Cafe au lait spots, multiple Supplemental_disease_name DISEASE_NAME:neurofibroma_axillary_freckling_inguinal_freckling_cafe_au_lait_spots_multiple Neurofibroma;Axillary freckling;Inguinal freckling;Cafe au lait spots, multiple Supplemental_disease_name DISEASE_NAME:neurofibroma_cafe_au_lait_spots_multiple Neurofibroma;Cafe au lait spots, multiple Supplemental_disease_name DISEASE_NAME:neurofibroma_inguinal_freckling_axillary_freckling_cafe_au_lait_spot_cafe_au_lait_spots_multiple Neurofibroma;Inguinal freckling;Axillary freckling;Cafe-au-lait spot;Cafe au lait spots, multiple Supplemental_disease_name DISEASE_NAME:neurofibroma_juvenile_myelomonocytic_leukemia Neurofibroma;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1 Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1 Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1 Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1_juvenile_myelomonocytic_leukemia Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1 Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1 Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1 Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_neurofibromatosis_noonan_syndrome_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_neurofibromatosis_type_1_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal_neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_familial_spinal_neurofibromatosis_type_1 Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1_neurofibromatosis_familial_spinal Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1 Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal_neurofibromatosis_type_1_juvenile_myelomonocytic_leukemia Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1 Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1_juvenile_myelomonocytic_leukemia_neurofibromatosis_familial_spinal Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1;Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1_neurofibromatosis_familial_spinal Neurofibromatosis-Noonan syndrome;Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_juvenile_myelomonocytic_leukemia_neurofibromatosis_type_1_neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis-Noonan syndrome;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_type_1 Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1 Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_noonan_syndrome_neurofibromatosis_type_1_neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1 Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_familial_spinal_neurofibromatosis_noonan_syndrome Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal_neurofibromatosis_noonan_syndrome_juvenile_myelomonocytic_leukemia Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_juvenile_myelomonocytic_leukemia_neurofibromatosis_familial_spinal Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_due_to_nf1_mutation_or_intragenic_deletion Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_ewing_sarcoma Neurofibromatosis, type 1;Ewing sarcoma Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_imagawa_matsumoto_syndrome Neurofibromatosis, type 1;Imagawa-Matsumoto syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal Neurofibromatosis, type 1;Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_juvenile_myelomonocytic_leukemia_neurofibromatosis_familial_spinal_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, type 1;Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal Neurofibromatosis, type 1;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, type 1;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_familial_spinal Neurofibromatosis, type 1;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_noonan_syndrome Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_familial_spinal_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia_neurofibromatosis_familial_spinal Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_café_au_lait_macules_with_pulmonary_stenosis_neurofibromatosis_familial_spinal_juvenile_myelomonocytic_leukemia Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_neurofibromatosis_noonan_syndrome_neurofibromatosis_familial_spinal_café_au_lait_macules_with_pulmonary_stenosis_juvenile_myelomonocytic_leukemia Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Café-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1_tibial_pseudarthrosis Neurofibromatosis, type 1;Tibial pseudarthrosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_2 Neurofibromatosis, type 2 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_2_familial_meningioma Neurofibromatosis, type 2;Familial meningioma Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_2_familial_meningioma_smarcb1_related_schwannomatosis Neurofibromatosis, type 2;Familial meningioma;SMARCB1-related schwannomatosis Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_2_meningioma Neurofibromatosis, type 2;Meningioma Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_2_smarcb1_related_schwannomatosis_familial_meningioma Neurofibromatosis, type 2;SMARCB1-related schwannomatosis;Familial meningioma Supplemental_disease_name DISEASE_NAME:neurog3_related_disorder NEUROG3-related disorder Supplemental_disease_name DISEASE_NAME:neurogastrointestinal_syndrome_mitochondrial NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL Supplemental_disease_name DISEASE_NAME:neurogenic_scapuloperoneal_syndrome Neurogenic scapuloperoneal syndrome Supplemental_disease_name DISEASE_NAME:neurogenic_scapuloperoneal_syndrome_kaeser_type_desmin_related_myofibrillar_myopathy_dilated_cardiomyopathy_1i Neurogenic scapuloperoneal syndrome, Kaeser type;Desmin-related myofibrillar myopathy;Dilated cardiomyopathy 1I Supplemental_disease_name DISEASE_NAME:neurogenic_scapuloperoneal_syndrome_kaeser_type_dilated_cardiomyopathy_1i_desmin_related_myofibrillar_myopathy Neurogenic scapuloperoneal syndrome, Kaeser type;Dilated cardiomyopathy 1I;Desmin-related myofibrillar myopathy Supplemental_disease_name DISEASE_NAME:neurologic_endocrine_and_pancreatic_disease_multisystem_infantile_onset Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset Supplemental_disease_name DISEASE_NAME:neurologic_endocrine_and_pancreatic_disease_multisystem_infantile_onset_1 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 Supplemental_disease_name DISEASE_NAME:neurologic_endocrine_and_pancreatic_disease_multisystem_infantile_onset_2 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 Supplemental_disease_name DISEASE_NAME:neurological_and_psychiatric_features neurological and psychiatric features Supplemental_disease_name DISEASE_NAME:neurological_deficit_structural_brain_abnormalities Neurological deficit;Structural brain abnormalities Supplemental_disease_name DISEASE_NAME:neurological_syndrome_with_pontocerebellar_hypoplasia Neurological syndrome with pontocerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:neurometabolic_disorder_due_to_serine_deficiency Neurometabolic disorder due to serine deficiency Supplemental_disease_name DISEASE_NAME:neuromotor_delay_intellectual_disability_peripheral_neuropathy Neuromotor delay;Intellectual disability;Peripheral neuropathy Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_and_ocular_or_auditory_anomalies_with_or_without_seizures Neuromuscular disease and ocular or auditory anomalies with or without seizures Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_alpha_dystroglycan Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_beta_myosin_heavy_chain_myh7 Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_dysferlin Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_dystrophin Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_dystrophin_duchenne_muscular_dystrophy_dilated_cardiomyopathy_3b_becker_muscular_dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin;Duchenne muscular dystrophy;Dilated cardiomyopathy 3B;Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_perlecan Neuromuscular disease caused by qualitative or quantitative defects of perlecan Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_caused_by_qualitative_or_quantitative_defects_of_plectin Neuromuscular disease caused by qualitative or quantitative defects of plectin Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_central_core_myopathy Neuromuscular disease;Central core myopathy Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_congenital_with_uniform_type_1_fiber Neuromuscular disease, congenital, with uniform type 1 fiber Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_developmental_delay Neuromuscular disease;Developmental delay Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_malignant_hyperthermia_of_anesthesia Neuromuscular disease;Malignant hyperthermia of anesthesia Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_primary_dilated_cardiomyopathy Neuromuscular disease;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_primary_dilated_cardiomyopathy_desmin_related_myofibrillar_myopathy Neuromuscular disease;Primary dilated cardiomyopathy;Desmin-related myofibrillar myopathy Supplemental_disease_name DISEASE_NAME:neuromuscular_disease_skeletal_dysplasia Neuromuscular disease;Skeletal dysplasia Supplemental_disease_name DISEASE_NAME:neuromuscular_disorder Neuromuscular disorder Supplemental_disease_name DISEASE_NAME:neuromuscular_disorder_congenital_with_dysmorphic_facies Neuromuscular disorder, congenital, with dysmorphic facies Supplemental_disease_name DISEASE_NAME:neuronal_ceroid_lipofuscinosis_11_grn_related_frontotemporal_lobar_degeneration_with_tdp43_inclusions Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Supplemental_disease_name DISEASE_NAME:neuronal_ceroid_lipofuscinosis_1_progressive_myoclonic_epilepsy_type_3 Neuronal ceroid lipofuscinosis 1;Progressive myoclonic epilepsy type 3 Supplemental_disease_name DISEASE_NAME:neuronal_ceroid_lipofuscinosis_2_autosomal_recessive_spinocerebellar_ataxia_7 Neuronal ceroid lipofuscinosis 2;Autosomal recessive spinocerebellar ataxia 7 Supplemental_disease_name DISEASE_NAME:neuronal_ceroid_lipofuscinosis_7_macular_dystrophy_with_central_cone_involvement Neuronal ceroid lipofuscinosis 7;Macular dystrophy with central cone involvement Supplemental_disease_name DISEASE_NAME:neuronal_ceroid_lipofuscinosis_8_neuronal_ceroid_lipofuscinosis_8_northern_epilepsy_variant Neuronal ceroid lipofuscinosis 8;Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Supplemental_disease_name DISEASE_NAME:neuronal_ceroid_lipofuscinosis_8_northern_epilepsy_variant_neuronal_ceroid_lipofuscinosis_8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant;Neuronal ceroid lipofuscinosis 8 Supplemental_disease_name DISEASE_NAME:neuronal_ceroid_lipofuscinosis_recessive Neuronal Ceroid-Lipofuscinosis, Recessive Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant Neuronopathy, distal hereditary motor, autosomal dominant Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_1 Neuronopathy, distal hereditary motor, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_10 Neuronopathy, distal hereditary motor, autosomal dominant 10 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_11 Neuronopathy, distal hereditary motor, autosomal dominant 11 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_11_developmental_delay_with_or_without_epilepsy_developmental_and_epileptic_encephalopathy_5_spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia Neuronopathy, distal hereditary motor, autosomal dominant 11;Developmental delay with or without epilepsy;Developmental and epileptic encephalopathy, 5;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_11_spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia_developmental_and_epileptic_encephalopathy_5_developmental_delay_with_or_without_epilepsy Neuronopathy, distal hereditary motor, autosomal dominant 11;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia;Developmental and epileptic encephalopathy, 5;Developmental delay with or without epilepsy Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_11_spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia_developmental_delay_with_or_without_epilepsy_developmental_and_epileptic_encephalopathy_5 Neuronopathy, distal hereditary motor, autosomal dominant 11;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia;Developmental delay with or without epilepsy;Developmental and epileptic encephalopathy, 5 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_15 Neuronopathy, distal hereditary motor, autosomal dominant 15 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_1_menkes_kinky_hair_syndrome_cutis_laxa_x_linked Neuronopathy, distal hereditary motor, autosomal dominant 1;Menkes kinky-hair syndrome;Cutis laxa, X-linked Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_8 Neuronopathy, distal hereditary motor, autosomal dominant 8 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_8_charcot_marie_tooth_disease_axonal_type_2c_scapuloperoneal_spinal_muscular_atrophy Neuronopathy, distal hereditary motor, autosomal dominant 8;Charcot-Marie-Tooth disease axonal type 2C;Scapuloperoneal spinal muscular atrophy Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_dominant_8_scapuloperoneal_spinal_muscular_atrophy_charcot_marie_tooth_disease_axonal_type_2c Neuronopathy, distal hereditary motor, autosomal dominant 8;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease axonal type 2C Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive Neuronopathy, distal hereditary motor, autosomal recessive Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_10 Neuronopathy, distal hereditary motor, autosomal recessive 10 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_10_pontocerebellar_hypoplasia_type_1a Neuronopathy, distal hereditary motor, autosomal recessive 10;Pontocerebellar hypoplasia type 1A Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_11_with_spasticity Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_4 Neuronopathy, distal hereditary motor, autosomal recessive 4 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_4_charcot_marie_tooth_disease_recessive_intermediate_c Neuronopathy, distal hereditary motor, autosomal recessive 4;Charcot-Marie-Tooth disease recessive intermediate C Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_5 Neuronopathy, distal hereditary motor, autosomal recessive 5 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_5_charcot_marie_tooth_disease_type_2 Neuronopathy, distal hereditary motor, autosomal recessive 5;Charcot-Marie-Tooth disease type 2 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_7 Neuronopathy, distal hereditary motor, autosomal recessive 7 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_8 Neuronopathy, distal hereditary motor, autosomal recessive 8 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_9 Neuronopathy, distal hereditary motor, autosomal recessive 9 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_autosomal_recessive_9_primary_coenzyme_q10_deficiency_8 Neuronopathy, distal hereditary motor, autosomal recessive 9;Primary coenzyme Q10 deficiency 8 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_2a Neuronopathy, distal hereditary motor, type 2A Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_2a_charcot_marie_tooth_disease_axonal_type_2l Neuronopathy, distal hereditary motor, type 2A;Charcot-Marie-Tooth disease axonal type 2L Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_2b Neuronopathy, distal hereditary motor, type 2B Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_2b_charcot_marie_tooth_disease_axonal_type_2f Neuronopathy, distal hereditary motor, type 2B;Charcot-Marie-Tooth disease axonal type 2F Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_2c Neuronopathy, distal hereditary motor, type 2C Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_2d Neuronopathy, distal hereditary motor, type 2D Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5 Neuronopathy, distal hereditary motor, type 5 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5a Neuronopathy, distal hereditary motor, type 5A Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5a_charcot_marie_tooth_disease_type_2d Neuronopathy, distal hereditary motor, type 5A;Charcot-Marie-Tooth disease type 2D Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5a_hereditary_spastic_paraplegia_17 Neuronopathy, distal hereditary motor, type 5A;Hereditary spastic paraplegia 17 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5b Neuronopathy, distal hereditary motor, type 5B Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5b_hereditary_spastic_paraplegia_31 Neuronopathy, distal hereditary motor, type 5B;Hereditary spastic paraplegia 31 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5c Neuronopathy, distal hereditary motor, type 5C Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5c_congenital_generalized_lipodystrophy_type_2_hereditary_spastic_paraplegia_17_severe_neurodegenerative_syndrome_with_lipodystrophy Neuronopathy, distal hereditary motor, type 5C;Congenital generalized lipodystrophy type 2;Hereditary spastic paraplegia 17;Severe neurodegenerative syndrome with lipodystrophy Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5c_hereditary_spastic_paraplegia_17 Neuronopathy, distal hereditary motor, type 5C;Hereditary spastic paraplegia 17 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5c_hereditary_spastic_paraplegia_17_congenital_generalized_lipodystrophy_type_2_severe_neurodegenerative_syndrome_with_lipodystrophy Neuronopathy, distal hereditary motor, type 5C;Hereditary spastic paraplegia 17;Congenital generalized lipodystrophy type 2;Severe neurodegenerative syndrome with lipodystrophy Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_5c_severe_neurodegenerative_syndrome_with_lipodystrophy_hereditary_spastic_paraplegia_17_congenital_generalized_lipodystrophy_type_2 Neuronopathy, distal hereditary motor, type 5C;Severe neurodegenerative syndrome with lipodystrophy;Hereditary spastic paraplegia 17;Congenital generalized lipodystrophy type 2 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_7a Neuronopathy, distal hereditary motor, type 7A Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_7a_congenital_myasthenic_syndrome_20 Neuronopathy, distal hereditary motor, type 7A;Congenital myasthenic syndrome 20 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_7b Neuronopathy, distal hereditary motor, type 7B Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_7b_amyotrophic_lateral_sclerosis_type_1 Neuronopathy, distal hereditary motor, type 7B;Amyotrophic lateral sclerosis type 1 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_7b_amyotrophic_lateral_sclerosis_type_1_perry_syndrome Neuronopathy, distal hereditary motor, type 7B;Amyotrophic lateral sclerosis type 1;Perry syndrome Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_7b_perry_syndrome_amyotrophic_lateral_sclerosis_type_1 Neuronopathy, distal hereditary motor, type 7B;Perry syndrome;Amyotrophic lateral sclerosis type 1 Supplemental_disease_name DISEASE_NAME:neuronopathy_distal_hereditary_motor_type_9 Neuronopathy, distal hereditary motor, type 9 Supplemental_disease_name DISEASE_NAME:neuroocular_syndrome Neuroocular syndrome Supplemental_disease_name DISEASE_NAME:neuroocular_syndrome_1 Neuroocular syndrome 1 Supplemental_disease_name DISEASE_NAME:neurooculorenal_syndrome Neurooculorenal syndrome Supplemental_disease_name DISEASE_NAME:neurooculorenal_syndrome_nystagmus_congenital_autosomal_recessive Neurooculorenal syndrome;Nystagmus, congenital, autosomal recessive Supplemental_disease_name DISEASE_NAME:neuropathy_axonal_with_vocal_cord_paresis_autosomal_recessive Neuropathy, axonal, with vocal cord paresis, autosomal recessive Supplemental_disease_name DISEASE_NAME:neuropathy_congenital_hypomyelinating_2 Neuropathy, congenital hypomyelinating, 2 Supplemental_disease_name DISEASE_NAME:neuropathy_congenital_hypomyelinating_3 Neuropathy, congenital hypomyelinating, 3 Supplemental_disease_name DISEASE_NAME:neuropathy_congenital_hypomyelinating_3_lethal_congenital_contracture_syndrome_7 Neuropathy, congenital hypomyelinating, 3;Lethal congenital contracture syndrome 7 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_motor_and_sensory_type_6a Neuropathy, hereditary motor and sensory, type 6A Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_motor_and_sensory_type_6a_charcot_marie_tooth_disease_type_2a2 Neuropathy, hereditary motor and sensory, type 6A;Charcot-Marie-Tooth disease type 2A2 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_motor_and_sensory_type_6a_charcot_marie_tooth_disease_type_2a2_charcot_marie_tooth_disease_axonal_autosomal_recessive_type_2a2b Neuropathy, hereditary motor and sensory, type 6A;Charcot-Marie-Tooth disease type 2A2;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_motor_and_sensory_type_6b Neuropathy, hereditary motor and sensory, type 6B Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_motor_and_sensory_type_6b_pontocerebellar_hypoplasia_type_1e Neuropathy, hereditary motor and sensory, type 6B;Pontocerebellar hypoplasia, type 1E Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_motor_and_sensory_type_vic_with_optic_atrophy Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_1a Neuropathy, hereditary sensory and autonomic, type 1A Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_1a_amyotrophic_lateral_sclerosis_27_juvenile Neuropathy, hereditary sensory and autonomic, type 1A;Amyotrophic lateral sclerosis 27, juvenile Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_1c Neuropathy, hereditary sensory and autonomic, type 1C Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a Neuropathy, hereditary sensory and autonomic, type 2A Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_generalized_epilepsy_with_febrile_seizures_plus_primary_erythromelalgia_paroxysmal_extreme_pain_disorder Neuropathy, hereditary sensory and autonomic, type 2A;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Generalized epilepsy with febrile seizures plus;Primary erythromelalgia;Paroxysmal extreme pain disorder Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_paroxysmal_extreme_pain_disorder_primary_erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Paroxysmal extreme pain disorder;Primary erythromelalgia Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_primary_erythromelalgia_paroxysmal_extreme_pain_disorder Neuropathy, hereditary sensory and autonomic, type 2A;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Primary erythromelalgia;Paroxysmal extreme pain disorder Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_generalized_epilepsy_with_febrile_seizures_plus_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_paroxysmal_extreme_pain_disorder_primary_erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A;Generalized epilepsy with febrile seizures plus;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Paroxysmal extreme pain disorder;Primary erythromelalgia Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_generalized_epilepsy_with_febrile_seizures_plus_type_7 Neuropathy, hereditary sensory and autonomic, type 2A;Generalized epilepsy with febrile seizures plus, type 7 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_hereditary_spastic_paraplegia_30_intellectual_disability_autosomal_dominant_9_neuropathy_hereditary_sensory_type_2c Neuropathy, hereditary sensory and autonomic, type 2A;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9;Neuropathy, hereditary sensory, type 2C Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_hereditary_spastic_paraplegia_30_neuropathy_hereditary_sensory_type_2c_intellectual_disability_autosomal_dominant_9 Neuropathy, hereditary sensory and autonomic, type 2A;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_neuropathy_hereditary_sensory_and_autonomic_type_2b Neuropathy, hereditary sensory and autonomic, type 2A;Neuropathy, hereditary sensory and autonomic, type 2B Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_neuropathy_hereditary_sensory_type_2c_hereditary_spastic_paraplegia_30_intellectual_disability_autosomal_dominant_9 Neuropathy, hereditary sensory and autonomic, type 2A;Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_neuropathy_hereditary_sensory_type_2c_intellectual_disability_autosomal_dominant_9_hereditary_spastic_paraplegia_30 Neuropathy, hereditary sensory and autonomic, type 2A;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_paroxysmal_extreme_pain_disorder_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_primary_erythromelalgia Neuropathy, hereditary sensory and autonomic, type 2A;Paroxysmal extreme pain disorder;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Primary erythromelalgia Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_paroxysmal_extreme_pain_disorder_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_primary_erythromelalgia_generalized_epilepsy_with_febrile_seizures_plus_type_7 Neuropathy, hereditary sensory and autonomic, type 2A;Paroxysmal extreme pain disorder;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Primary erythromelalgia;Generalized epilepsy with febrile seizures plus, type 7 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_paroxysmal_extreme_pain_disorder_generalized_epilepsy_with_febrile_seizures_plus_primary_erythromelalgia_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive Neuropathy, hereditary sensory and autonomic, type 2A;Paroxysmal extreme pain disorder;Generalized epilepsy with febrile seizures plus;Primary erythromelalgia;Channelopathy-associated congenital insensitivity to pain, autosomal recessive Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_primary_erythromelalgia_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_paroxysmal_extreme_pain_disorder Neuropathy, hereditary sensory and autonomic, type 2A;Primary erythromelalgia;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Paroxysmal extreme pain disorder Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2a_pseudohypoaldosteronism_type_2c Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_2b Neuropathy, hereditary sensory and autonomic, type 2B Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_ia_severe Neuropathy, hereditary sensory and autonomic, type IA, severe Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_ic_severe NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_and_autonomic_type_iid Neuropathy, hereditary sensory and autonomic, type IId Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_1d Neuropathy, hereditary sensory, type 1D Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_1d_hereditary_spastic_paraplegia_3a Neuropathy, hereditary sensory, type 1D;Hereditary spastic paraplegia 3A Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_1f Neuropathy, hereditary sensory, type 1F Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_2c Neuropathy, hereditary sensory, type 2C Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_2c_hereditary_spastic_paraplegia_30 Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_2c_hereditary_spastic_paraplegia_30_intellectual_disability_autosomal_dominant_9 Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_2c_intellectual_disability_autosomal_dominant_9_hereditary_spastic_paraplegia_30 Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_2c_intellectual_disability_autosomal_dominant_9_neuropathy_hereditary_sensory_and_autonomic_type_2a_hereditary_spastic_paraplegia_30 Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Neuropathy, hereditary sensory and autonomic, type 2A;Hereditary spastic paraplegia 30 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_2c_neuropathy_hereditary_sensory_and_autonomic_type_2a_hereditary_spastic_paraplegia_30_intellectual_disability_autosomal_dominant_9 Neuropathy, hereditary sensory, type 2C;Neuropathy, hereditary sensory and autonomic, type 2A;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_2c_spastic_paraplegia_30b_autosomal_recessive Neuropathy, hereditary sensory, type 2C;Spastic paraplegia 30B, autosomal recessive Supplemental_disease_name DISEASE_NAME:neuropathy_hereditary_sensory_type_2c_spastic_paraplegia_autosomal_dominant_hereditary_spastic_paraplegia_30_intellectual_disability_autosomal_dominant_9 Neuropathy, hereditary sensory, type 2C;Spastic paraplegia, autosomal dominant;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:neuropsychiatric_disorder Neuropsychiatric disorder Supplemental_disease_name DISEASE_NAME:neuropsychiatric_disorder_and_early_onset_cataract Neuropsychiatric disorder and early-onset cataract Supplemental_disease_name DISEASE_NAME:neutral_1_amino_acid_transport_defect_hyperglycinuria_iminoglycinuria Neutral 1 amino acid transport defect;Hyperglycinuria;Iminoglycinuria Supplemental_disease_name DISEASE_NAME:neutral_1_amino_acid_transport_defect_iminoglycinuria_hyperglycinuria Neutral 1 amino acid transport defect;Iminoglycinuria;Hyperglycinuria Supplemental_disease_name DISEASE_NAME:neutral_lipid_storage_myopathy Neutral lipid storage myopathy Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_10_autosomal_recessive Neutropenia, severe congenital, 10, autosomal recessive Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_11_autosomal_dominant Neutropenia, severe congenital, 11, autosomal dominant Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_12_autosomal_recessive Neutropenia, severe congenital, 12, autosomal recessive Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_1_autosomal_dominant Neutropenia, severe congenital, 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_1_autosomal_dominant_cyclical_neutropenia Neutropenia, severe congenital, 1, autosomal dominant;Cyclical neutropenia Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_2_autosomal_dominant Neutropenia, severe congenital, 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_2_autosomal_dominant_nonimmune_chronic_idiopathic_neutropenia_of_adults Neutropenia, severe congenital, 2, autosomal dominant;Nonimmune chronic idiopathic neutropenia of adults Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_8_autosomal_dominant Neutropenia, severe congenital, 8, autosomal dominant Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_8_autosomal_dominant_shwachman_diamond_syndrome_1 Neutropenia, severe congenital, 8, autosomal dominant;Shwachman-Diamond syndrome 1 Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_9_autosomal_dominant Neutropenia, severe congenital, 9, autosomal dominant Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_9_autosomal_dominant_3_methylglutaconic_aciduria_type_viia_3_methylglutaconic_aciduria_type_viib Neutropenia, severe congenital, 9, autosomal dominant;3-methylglutaconic aciduria, type VIIA;3-methylglutaconic aciduria, type VIIB Supplemental_disease_name DISEASE_NAME:neutropenia_severe_congenital_9_autosomal_dominant_3_methylglutaconic_aciduria_type_viib_3_methylglutaconic_aciduria_type_viia Neutropenia, severe congenital, 9, autosomal dominant;3-methylglutaconic aciduria, type VIIB;3-methylglutaconic aciduria, type VIIA Supplemental_disease_name DISEASE_NAME:neutrophil_immunodeficiency_syndrome_immunodeficiency_73b_with_defective_neutrophil_chemotaxis_and_lymphopenia_immunodeficiency_73c_with_defective_neutrophil_chemotaxis_and_hypogammaglobulinemia Neutrophil immunodeficiency syndrome;Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia;Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Supplemental_disease_name DISEASE_NAME:nevirapine_response_metabolism_pk nevirapine response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:nevirapine_response_toxicity nevirapine response - Toxicity Supplemental_disease_name DISEASE_NAME:nevus_comedonicus_syndrome Nevus comedonicus syndrome Supplemental_disease_name DISEASE_NAME:nevus_sebaceous Nevus sebaceous Supplemental_disease_name DISEASE_NAME:nevus_spilus_somatic NEVUS SPILUS, SOMATIC Supplemental_disease_name DISEASE_NAME:new_onset_refractory_status_epilepticus New-onset refractory status epilepticus Supplemental_disease_name DISEASE_NAME:newfoundland_cone_rod_dystrophy_bothnia_retinal_dystrophy_pigmentary_retinal_dystrophy Newfoundland cone-rod dystrophy;Bothnia retinal dystrophy;Pigmentary retinal dystrophy Supplemental_disease_name DISEASE_NAME:newfoundland_cone_rod_dystrophy_pigmentary_retinal_dystrophy_bothnia_retinal_dystrophy Newfoundland cone-rod dystrophy;Pigmentary retinal dystrophy;Bothnia retinal dystrophy Supplemental_disease_name DISEASE_NAME:nexmif_related_disorder NEXMIF-related disorder Supplemental_disease_name DISEASE_NAME:nexn_related_disorder NEXN-related disorder Supplemental_disease_name DISEASE_NAME:nf1_related_disorder NF1-related disorder Supplemental_disease_name DISEASE_NAME:nf2_related_disorder NF2-related disorder Supplemental_disease_name DISEASE_NAME:nfasc_related_disorder NFASC-related disorder Supplemental_disease_name DISEASE_NAME:nfat5_related_disorder NFAT5-related disorder Supplemental_disease_name DISEASE_NAME:nfatc1_related_disorder NFATC1-related disorder Supplemental_disease_name DISEASE_NAME:nfe2l2_related_disorder NFE2L2-related disorder Supplemental_disease_name DISEASE_NAME:nfib_related_disorder NFIB-related disorder Supplemental_disease_name DISEASE_NAME:nfib_related_neurodevelopmental_disorder NFIB-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nfil3_related_disorder NFIL3-related disorder Supplemental_disease_name DISEASE_NAME:nfix_related_disorder NFIX-related disorder Supplemental_disease_name DISEASE_NAME:nfkb1_related_disorder NFKB1-related disorder Supplemental_disease_name DISEASE_NAME:nfkb2_related_disorder NFKB2-related disorder Supplemental_disease_name DISEASE_NAME:nfkbia_related_disorder NFKBIA-related disorder Supplemental_disease_name DISEASE_NAME:nfkbil1_related_disorder NFKBIL1-related disorder Supplemental_disease_name DISEASE_NAME:nfkbiz_related_disorder NFKBIZ-related disorder Supplemental_disease_name DISEASE_NAME:nfs1_related_disorder NFS1-related disorder Supplemental_disease_name DISEASE_NAME:nfu1_related_disorder NFU1-related disorder Supplemental_disease_name DISEASE_NAME:nfxl1_related_disorder NFXL1-related disorder Supplemental_disease_name DISEASE_NAME:ngf_related_disorder NGF-related disorder Supplemental_disease_name DISEASE_NAME:ngly1_related_disorder NGLY1-related disorder Supplemental_disease_name DISEASE_NAME:nhej1_related_disorder NHEJ1-related disorder Supplemental_disease_name DISEASE_NAME:nherf1_related_disorder NHERF1-related disorder Supplemental_disease_name DISEASE_NAME:nhlrc1_related_disorder NHLRC1-related disorder Supplemental_disease_name DISEASE_NAME:nhlrc2_related_disorder NHLRC2-related disorder Supplemental_disease_name DISEASE_NAME:nhp2_related_disorder NHP2-related disorder Supplemental_disease_name DISEASE_NAME:nhs_related_disorder NHS-related disorder Supplemental_disease_name DISEASE_NAME:nice_approved_parp_inhibitor_treatment NICE approved PARP inhibitor treatment Supplemental_disease_name DISEASE_NAME:nicolaides_baraitser_syndrome_blepharophimosis_impaired_intellectual_development_syndrome Nicolaides-Baraitser syndrome;Blepharophimosis-impaired intellectual development syndrome Supplemental_disease_name DISEASE_NAME:nicolaides_baraitser_syndrome_coffin_siris_syndrome Nicolaides-Baraitser syndrome;Coffin-Siris syndrome Supplemental_disease_name DISEASE_NAME:nicotine_addiction_protection_against NICOTINE ADDICTION, PROTECTION AGAINST Supplemental_disease_name DISEASE_NAME:nicotine_dependence_protection_against Nicotine dependence, protection against Supplemental_disease_name DISEASE_NAME:nicotine_poor_metabolism_of NICOTINE, POOR METABOLISM OF Supplemental_disease_name DISEASE_NAME:nicotine_response_toxicity nicotine response - Toxicity Supplemental_disease_name DISEASE_NAME:niemann_pick_disease_intermediate_protracted_neurovisceral Niemann-pick disease, intermediate, protracted neurovisceral Supplemental_disease_name DISEASE_NAME:niemann_pick_disease_type_a_niemann_pick_disease_type_b Niemann-Pick disease, type A;Niemann-Pick disease, type B Supplemental_disease_name DISEASE_NAME:niemann_pick_disease_type_b_niemann_pick_disease_type_a Niemann-Pick disease, type B;Niemann-Pick disease, type A Supplemental_disease_name DISEASE_NAME:niemann_pick_disease_type_c Niemann-Pick disease, type C Supplemental_disease_name DISEASE_NAME:niemann_pick_disease_type_c1_adult_form Niemann-Pick disease, type C1, adult form Supplemental_disease_name DISEASE_NAME:niemann_pick_disease_type_c1_juvenile_form Niemann-Pick disease, type C1, juvenile form Supplemental_disease_name DISEASE_NAME:niemann_pick_disease_type_d Niemann-Pick disease, type D Supplemental_disease_name DISEASE_NAME:night_blindness_blindness_optic_disc_drusen_macular_dystrophy_retinal_pigment_epithelial_atrophy Night blindness;Blindness;Optic disc drusen;Macular dystrophy;Retinal pigment epithelial atrophy Supplemental_disease_name DISEASE_NAME:night_blindness_chorioretinal_atrophy Night blindness;Chorioretinal atrophy Supplemental_disease_name DISEASE_NAME:night_blindness_congenital_stationary_type1i Night blindness, congenital stationary, type1i Supplemental_disease_name DISEASE_NAME:night_blindness_congenital_stationary_type1i_choroidal_dystrophy_central_areolar_1_cone_rod_dystrophy_6_leber_congenital_amaurosis_1 Night blindness, congenital stationary, type1i;Choroidal dystrophy, central areolar, 1;Cone-rod dystrophy 6;Leber congenital amaurosis 1 Supplemental_disease_name DISEASE_NAME:night_blindness_congenital_stationary_type1i_cone_rod_dystrophy_6_choroidal_dystrophy_central_areolar_1_leber_congenital_amaurosis_1 Night blindness, congenital stationary, type1i;Cone-rod dystrophy 6;Choroidal dystrophy, central areolar, 1;Leber congenital amaurosis 1 Supplemental_disease_name DISEASE_NAME:night_blindness_congenital_stationary_type1i_cone_rod_dystrophy_6_leber_congenital_amaurosis_1_choroidal_dystrophy_central_areolar_1 Night blindness, congenital stationary, type1i;Cone-rod dystrophy 6;Leber congenital amaurosis 1;Choroidal dystrophy, central areolar, 1 Supplemental_disease_name DISEASE_NAME:night_blindness_congenital_stationary_type1i_leber_congenital_amaurosis_1_cone_rod_dystrophy_6 Night blindness, congenital stationary, type1i;Leber congenital amaurosis 1;Cone-rod dystrophy 6 Supplemental_disease_name DISEASE_NAME:night_blindness_congenital_stationary_type1i_leber_congenital_amaurosis_1_cone_rod_dystrophy_6_choroidal_dystrophy_central_areolar_1 Night blindness, congenital stationary, type1i;Leber congenital amaurosis 1;Cone-rod dystrophy 6;Choroidal dystrophy, central areolar, 1 Supplemental_disease_name DISEASE_NAME:nijmegen_breakage_syndrome_like_disorder Nijmegen breakage syndrome-like disorder Supplemental_disease_name DISEASE_NAME:nijmegen_breakage_syndrome_like_disorder_breast_cancer_susceptibility_to Nijmegen breakage syndrome-like disorder;Breast cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:nijmegen_breakage_syndrome_like_disorder_breast_ovarian_cancer_familial_susceptibility_to_1 Nijmegen breakage syndrome-like disorder;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:nijmegen_breakage_syndrome_like_disorder_hereditary_cancer_predisposing_syndrome Nijmegen breakage syndrome-like disorder;Hereditary cancer-predisposing syndrome Supplemental_disease_name DISEASE_NAME:nik_deficiency NIK deficiency Supplemental_disease_name DISEASE_NAME:nin_related_disorder NIN-related disorder Supplemental_disease_name DISEASE_NAME:ninl_related_disorder NINL-related disorder Supplemental_disease_name DISEASE_NAME:nipa1_related_disorder NIPA1-related disorder Supplemental_disease_name DISEASE_NAME:nipa2_related_disorder NIPA2-related disorder Supplemental_disease_name DISEASE_NAME:nipal3_related_disorder NIPAL3-related disorder Supplemental_disease_name DISEASE_NAME:nipal4_related_disorder NIPAL4-related disorder Supplemental_disease_name DISEASE_NAME:nipbl_related_disorder NIPBL-related disorder Supplemental_disease_name DISEASE_NAME:nitroglycerin_poor_response_to NITROGLYCERIN, POOR RESPONSE TO Supplemental_disease_name DISEASE_NAME:nizon_isidor_syndrome Nizon-Isidor syndrome Supplemental_disease_name DISEASE_NAME:nk_cell_enteropathy NK-cell enteropathy Supplemental_disease_name DISEASE_NAME:nkap_related_disorder NKAP-related disorder Supplemental_disease_name DISEASE_NAME:nkx2_1_related_disorders NKX2-1-Related Disorders Supplemental_disease_name DISEASE_NAME:nkx2_2_related_disorder NKX2-2-related disorder Supplemental_disease_name DISEASE_NAME:nkx2_5_related_congenital_conduction_and_myopathic_heart_disease NKX2.5-related congenital, conduction and myopathic heart disease Supplemental_disease_name DISEASE_NAME:nkx2_5_related_disorder NKX2-5-related disorder Supplemental_disease_name DISEASE_NAME:nkx2_6_related_disorder NKX2-6-related disorder Supplemental_disease_name DISEASE_NAME:nkx3_2_related_disorder NKX3-2-related disorder Supplemental_disease_name DISEASE_NAME:nkx6_2_related_disorder NKX6-2-related disorder Supplemental_disease_name DISEASE_NAME:nlgn1_related_disorder NLGN1-related disorder Supplemental_disease_name DISEASE_NAME:nlgn2_related_disorder NLGN2-related disorder Supplemental_disease_name DISEASE_NAME:nlgn3_related_disorder NLGN3-related disorder Supplemental_disease_name DISEASE_NAME:nlgn4x_related_disorder NLGN4X-related disorder Supplemental_disease_name DISEASE_NAME:nlrc4_related_disorder NLRC4-related disorder Supplemental_disease_name DISEASE_NAME:nlrp12_associated_autoinflammatory_disease NLRP12-associated autoinflammatory disease Supplemental_disease_name DISEASE_NAME:nlrp12_related_disorder NLRP12-related disorder Supplemental_disease_name DISEASE_NAME:nlrp14_related_disorder NLRP14-related disorder Supplemental_disease_name DISEASE_NAME:nlrp1_related_disorder NLRP1-related disorder Supplemental_disease_name DISEASE_NAME:nlrp2_related_disorder NLRP2-related disorder Supplemental_disease_name DISEASE_NAME:nlrp3_related_disorder NLRP3-related disorder Supplemental_disease_name DISEASE_NAME:nlrp5_related_disorder NLRP5-related disorder Supplemental_disease_name DISEASE_NAME:nlrp7_related_disorder NLRP7-related disorder Supplemental_disease_name DISEASE_NAME:nme1_nme2_related_disorder NME1-NME2-related disorder Supplemental_disease_name DISEASE_NAME:nme3_related_condition NME3-related condition Supplemental_disease_name DISEASE_NAME:nme7_related_disorder NME7-related disorder Supplemental_disease_name DISEASE_NAME:nme8_related_disorder NME8-related disorder Supplemental_disease_name DISEASE_NAME:nmnat1_related_disorder NMNAT1-related disorder Supplemental_disease_name DISEASE_NAME:nmnat1_related_retinopathy NMNAT1-related retinopathy Supplemental_disease_name DISEASE_NAME:nnt_related_disorder NNT-related disorder Supplemental_disease_name DISEASE_NAME:nobox_related_disorder NOBOX-related disorder Supplemental_disease_name DISEASE_NAME:nod2_related_disorder NOD2-related disorder Supplemental_disease_name DISEASE_NAME:nodal_related_disorder NODAL-related disorder Supplemental_disease_name DISEASE_NAME:nodal_t_follicular_helper_cell_lymphoma Nodal T-follicular helper cell lymphoma Supplemental_disease_name DISEASE_NAME:nog_related_disorder NOG-related disorder Supplemental_disease_name DISEASE_NAME:nog_related_symphlangism_spectrum_disorder NOG-related-symphlangism spectrum disorder Supplemental_disease_name DISEASE_NAME:noise_induced_hearing_loss Noise induced hearing loss Supplemental_disease_name DISEASE_NAME:nol3_related_disorder NOL3-related disorder Supplemental_disease_name DISEASE_NAME:non_acquired_combined_pituitary_hormone_deficiency Non-acquired combined pituitary hormone deficiency Supplemental_disease_name DISEASE_NAME:non_acquired_combined_pituitary_hormone_deficiency_with_spine_abnormalities Non-acquired combined pituitary hormone deficiency with spine abnormalities Supplemental_disease_name DISEASE_NAME:non_compaction_cardiomyopathy Non-compaction cardiomyopathy Supplemental_disease_name DISEASE_NAME:non_dilated_left_ventricular_cardiomyopathy Non-dilated left ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:non_epithelial_ovarian_tumor Non-epithelial ovarian tumor Supplemental_disease_name DISEASE_NAME:non_fanconi_anemia_cytopenia Non-Fanconi anemia cytopenia Supplemental_disease_name DISEASE_NAME:non_functioning_pituitary_tumours Non-functioning pituitary tumours Supplemental_disease_name DISEASE_NAME:non_hodgkin_s_lymphoma Non-Hodgkin's lymphoma Supplemental_disease_name DISEASE_NAME:non_immune_hydrops_fetalis Non-immune hydrops fetalis Supplemental_disease_name DISEASE_NAME:non_immune_hydrops_fetalis_sialidosis_type_2 Non-immune hydrops fetalis;Sialidosis type 2 Supplemental_disease_name DISEASE_NAME:non_lesional_focal_epilepsy non-lesional focal epilepsy Supplemental_disease_name DISEASE_NAME:non_lesional_parietal_lobe_epilepsy Non-lesional parietal lobe epilepsy Supplemental_disease_name DISEASE_NAME:non_mas_endocrine_tumor Non-MAS endocrine tumor Supplemental_disease_name DISEASE_NAME:non_obstructive_azoospermia Non-obstructive azoospermia Supplemental_disease_name DISEASE_NAME:non_ossifying_fibromas_with_pathologic_factures_and_x_linked_intellectual_disability Non-ossifying fibromas with pathologic factures and X-linked intellectual disability Supplemental_disease_name DISEASE_NAME:non_progressive_congenital_cerebellar_ataxia_ataxia_neurologic_child_onset Non-progressive congenital cerebellar ataxia;Ataxia _ Neurologic (child onset) Supplemental_disease_name DISEASE_NAME:non_progressive_neurodevelopmental_disorder_with_spasticity_and_transient_opisthotonus Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus Supplemental_disease_name DISEASE_NAME:non_small_cell_large_cell_lung_carcinoma Non-small cell large cell lung carcinoma Supplemental_disease_name DISEASE_NAME:non_small_cell_lung_adenocarcinoma Non-small cell lung adenocarcinoma Supplemental_disease_name DISEASE_NAME:non_small_cell_lung_cancer_carcinoma Non-small cell lung cancer/carcinoma Supplemental_disease_name DISEASE_NAME:non_small_cell_lung_carcinoma_neoplasm_of_the_large_intestine Non-small cell lung carcinoma;Neoplasm of the large intestine Supplemental_disease_name DISEASE_NAME:non_small_cell_squamous_cell_lung_carcinoma Non-small cell squamous cell lung carcinoma Supplemental_disease_name DISEASE_NAME:non_syndromic_hereditary_hearing_impairment Non-Syndromic Hereditary Hearing Impairment Supplemental_disease_name DISEASE_NAME:non_syndromic_intellectual_disability_syndromic_intellectual_disability Non-syndromic intellectual disability;Syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:non_syndromic_male_infertility_due_to_sperm_motility_disorder Non-syndromic male infertility due to sperm motility disorder Supplemental_disease_name DISEASE_NAME:non_syndromic_male_infertility_due_to_sperm_motility_disorder_male_infertility_with_teratozoospermia_due_to_single_gene_mutation Non-syndromic male infertility due to sperm motility disorder;Male infertility with teratozoospermia due to single gene mutation Supplemental_disease_name DISEASE_NAME:non_syndromic_oligodontia Non-syndromic oligodontia Supplemental_disease_name DISEASE_NAME:non_syndromic_renal_or_urinary_tract_malformation Non-syndromic renal or urinary tract malformation Supplemental_disease_name DISEASE_NAME:non_syndromic_syndactyly Non-syndromic syndactyly Supplemental_disease_name DISEASE_NAME:nonarteritic_anterior_ischemic_optic_neuropathy_susceptibility_to Nonarteritic anterior ischemic optic neuropathy, susceptibility to Supplemental_disease_name DISEASE_NAME:nonarteritic_anterior_ischemic_optic_neuropathy_susceptibility_to_bernard_soulier_syndrome_pseudo_von_willebrand_disease_bernard_soulier_syndrome_type_a2_autosomal_dominant Nonarteritic anterior ischemic optic neuropathy, susceptibility to;Bernard Soulier syndrome;Pseudo von Willebrand disease;Bernard-Soulier syndrome, type A2, autosomal dominant Supplemental_disease_name DISEASE_NAME:noncompaction_cardiomyopathy Noncompaction cardiomyopathy Supplemental_disease_name DISEASE_NAME:noncompaction_cardiomyopathy_reduced_left_ventricular_ejection_fraction Noncompaction cardiomyopathy;Reduced left ventricular ejection fraction Supplemental_disease_name DISEASE_NAME:noncompaction_cardiomyopathy_ventricular_fibrillation_atrial_septal_defect_primary_dilated_cardiomyopathy Noncompaction cardiomyopathy;Ventricular fibrillation;Atrial septal defect;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:nongerminomatous_germ_cell_tumor Nongerminomatous germ cell tumor Supplemental_disease_name DISEASE_NAME:nongoitrous_euthyroid_hyperthyrotropinemia Nongoitrous Euthyroid Hyperthyrotropinemia Supplemental_disease_name DISEASE_NAME:nonimmune_chronic_idiopathic_neutropenia_of_adults Nonimmune chronic idiopathic neutropenia of adults Supplemental_disease_name DISEASE_NAME:nonimmune_chronic_idiopathic_neutropenia_of_adults_neutropenia_severe_congenital_2_autosomal_dominant Nonimmune chronic idiopathic neutropenia of adults;Neutropenia, severe congenital, 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:nono_related_disorder NONO-related disorder Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax_colorectal_cancer Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;Colorectal cancer Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_17p11_2_microduplication_syndrome_familial_spontaneous_pneumothorax_carcinoma_of_colon Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;17p11.2 microduplication syndrome;Familial spontaneous pneumothorax;Carcinoma of colon Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_1_colorectal_cancer_familial_spontaneous_pneumothorax Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome 1;Colorectal cancer;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_1_familial_spontaneous_pneumothorax_colorectal_cancer Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome 1;Familial spontaneous pneumothorax;Colorectal cancer Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax_17p11_2_microduplication_syndrome_colorectal_cancer Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Colorectal cancer Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_chuvash_polycythemia_pheochromocytoma_von_hippel_lindau_syndrome Nonpapillary renal cell carcinoma;Chuvash polycythemia;Pheochromocytoma;Von Hippel-Lindau syndrome Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_chuvash_polycythemia_von_hippel_lindau_syndrome_pheochromocytoma Nonpapillary renal cell carcinoma;Chuvash polycythemia;Von Hippel-Lindau syndrome;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_colorectal_cancer_17p11_2_microduplication_syndrome_birt_hogg_dube_syndrome_familial_spontaneous_pneumothorax Nonpapillary renal cell carcinoma;Colorectal cancer;17p11.2 microduplication syndrome;Birt-Hogg-Dube syndrome;Familial spontaneous pneumothorax Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_colorectal_cancer_17p11_2_microduplication_syndrome_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome Nonpapillary renal cell carcinoma;Colorectal cancer;17p11.2 microduplication syndrome;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_colorectal_cancer_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_1 Nonpapillary renal cell carcinoma;Colorectal cancer;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome 1 Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_colorectal_cancer_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_17p11_2_microduplication_syndrome Nonpapillary renal cell carcinoma;Colorectal cancer;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_birt_hogg_dube_syndrome_1_colorectal_cancer Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Birt-Hogg-Dube syndrome 1;Colorectal cancer Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_colorectal_cancer_birt_hogg_dube_syndrome_1 Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Colorectal cancer;Birt-Hogg-Dube syndrome 1 Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_familial_spontaneous_pneumothorax_colorectal_cancer_birt_hogg_dube_syndrome_17p11_2_microduplication_syndrome Nonpapillary renal cell carcinoma;Familial spontaneous pneumothorax;Colorectal cancer;Birt-Hogg-Dube syndrome;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_pheochromocytoma_chuvash_polycythemia_von_hippel_lindau_syndrome Nonpapillary renal cell carcinoma;Pheochromocytoma;Chuvash polycythemia;Von Hippel-Lindau syndrome Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_pheochromocytoma_von_hippel_lindau_syndrome_chuvash_polycythemia Nonpapillary renal cell carcinoma;Pheochromocytoma;Von Hippel-Lindau syndrome;Chuvash polycythemia Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_renal_cysts_and_diabetes_syndrome_type_2_diabetes_mellitus Nonpapillary renal cell carcinoma;Renal cysts and diabetes syndrome;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_type_2_diabetes_mellitus_renal_cysts_and_diabetes_syndrome Nonpapillary renal cell carcinoma;Type 2 diabetes mellitus;Renal cysts and diabetes syndrome Supplemental_disease_name DISEASE_NAME:nonpapillary_renal_cell_carcinoma_von_hippel_lindau_syndrome Nonpapillary renal cell carcinoma;Von Hippel-Lindau syndrome Supplemental_disease_name DISEASE_NAME:nonpersistence_of_intestinal_lactase Nonpersistence of intestinal lactase Supplemental_disease_name DISEASE_NAME:nonsmall_cell_lung_cancer_response_to_tyrosine_kinase_inhibitor_in_somatic Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic Supplemental_disease_name DISEASE_NAME:nonspecific_intellectual_disability Nonspecific Intellectual Disability Supplemental_disease_name DISEASE_NAME:nonsyndromic_cleft_lip_palate Nonsyndromic cleft lip palate Supplemental_disease_name DISEASE_NAME:nonsyndromic_cleft_lip_with_or_without_cleft_palate Nonsyndromic cleft lip with or without cleft palate Supplemental_disease_name DISEASE_NAME:nonsyndromic_genetic_hearing_loss Nonsyndromic genetic hearing loss Supplemental_disease_name DISEASE_NAME:nonsyndromic_genetic_hearing_loss_hereditary_palmoplantar_keratoderma Nonsyndromic genetic hearing loss;Hereditary palmoplantar keratoderma Supplemental_disease_name DISEASE_NAME:nonsyndromic_hearing_impairment Nonsyndromic hearing impairment Supplemental_disease_name DISEASE_NAME:nonsyndromic_hearing_loss_and_deafness_mitochondrial Nonsyndromic Hearing Loss and Deafness, Mitochondrial Supplemental_disease_name DISEASE_NAME:nonsyndromic_heritable_thoracic_aortic_aneurysms_and_dissections Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections Supplemental_disease_name DISEASE_NAME:nonsyndromic_hypergonadotropic_hypogonadism Nonsyndromic hypergonadotropic hypogonadism Supplemental_disease_name DISEASE_NAME:nonsyndromic_oculocutaneous_albinism Nonsyndromic Oculocutaneous Albinism Supplemental_disease_name DISEASE_NAME:nonsyndromic_otitis_media Nonsyndromic otitis media Supplemental_disease_name DISEASE_NAME:nonsyndromic_sensorineural_hearing_loss nonsyndromic sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:noonan_like_disorder Noonan-like disorder Supplemental_disease_name DISEASE_NAME:noonan_like_syndrome Noonan-like syndrome Supplemental_disease_name DISEASE_NAME:noonan_syndrome_10_lztr1_related_schwannomatosis Noonan syndrome 10;LZTR1-related schwannomatosis Supplemental_disease_name DISEASE_NAME:noonan_syndrome_10_lztr1_related_schwannomatosis_noonan_syndrome_2 Noonan syndrome 10;LZTR1-related schwannomatosis;Noonan syndrome 2 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_10_noonan_syndrome_2 Noonan syndrome 10;Noonan syndrome 2 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_10_noonan_syndrome_2_lztr1_related_schwannomatosis Noonan syndrome 10;Noonan syndrome 2;LZTR1-related schwannomatosis Supplemental_disease_name DISEASE_NAME:noonan_syndrome_14 Noonan syndrome 14 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_cardiofaciocutaneous_syndrome_3 Noonan syndrome 1;Cardiofaciocutaneous syndrome 3 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_cardiofaciocutaneous_syndrome_3_melorheostosis Noonan syndrome 1;Cardiofaciocutaneous syndrome 3;Melorheostosis Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_juvenile_myelomonocytic_leukemia_leopard_syndrome_1_metachondromatosis Noonan syndrome 1;Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Metachondromatosis Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_juvenile_myelomonocytic_leukemia_metachondromatosis_leopard_syndrome_1 Noonan syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis;LEOPARD syndrome 1 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_leopard_syndrome_1 Noonan syndrome 1;LEOPARD syndrome 1 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_leopard_syndrome_1_juvenile_myelomonocytic_leukemia_metachondromatosis Noonan syndrome 1;LEOPARD syndrome 1;Juvenile myelomonocytic leukemia;Metachondromatosis Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_leopard_syndrome_1_metachondromatosis_juvenile_myelomonocytic_leukemia Noonan syndrome 1;LEOPARD syndrome 1;Metachondromatosis;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_leopard_syndrome_3_noonan_syndrome_7_lung_carcinoma_cardiofaciocutaneous_syndrome_1 Noonan syndrome 1;LEOPARD syndrome 3;Noonan syndrome 7;Lung carcinoma;Cardiofaciocutaneous syndrome 1 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_lung_carcinoma_leopard_syndrome_3_noonan_syndrome_7_cardiofaciocutaneous_syndrome_1 Noonan syndrome 1;Lung carcinoma;LEOPARD syndrome 3;Noonan syndrome 7;Cardiofaciocutaneous syndrome 1 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_melorheostosis_cardiofaciocutaneous_syndrome_3 Noonan syndrome 1;Melorheostosis;Cardiofaciocutaneous syndrome 3 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_1_metachondromatosis_juvenile_myelomonocytic_leukemia_leopard_syndrome_1 Noonan syndrome 1;Metachondromatosis;Juvenile myelomonocytic leukemia;LEOPARD syndrome 1 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_2_lztr1_related_schwannomatosis_noonan_syndrome_10 Noonan syndrome 2;LZTR1-related schwannomatosis;Noonan syndrome 10 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_2_noonan_syndrome_10 Noonan syndrome 2;Noonan syndrome 10 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_2_noonan_syndrome_10_lztr1_related_schwannomatosis Noonan syndrome 2;Noonan syndrome 10;LZTR1-related schwannomatosis Supplemental_disease_name DISEASE_NAME:noonan_syndrome_4_fibromatosis_gingival_1 Noonan syndrome 4;Fibromatosis, gingival, 1 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_5_dilated_cardiomyopathy_1nn_leopard_syndrome_2 Noonan syndrome 5;Dilated cardiomyopathy 1NN;LEOPARD syndrome 2 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_5_leopard_syndrome_2 Noonan syndrome 5;LEOPARD syndrome 2 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_5_leopard_syndrome_2_dilated_cardiomyopathy_1nn Noonan syndrome 5;LEOPARD syndrome 2;Dilated cardiomyopathy 1NN Supplemental_disease_name DISEASE_NAME:noonan_syndrome_7_leopard_syndrome_3_cardiofaciocutaneous_syndrome_1 Noonan syndrome 7;LEOPARD syndrome 3;Cardiofaciocutaneous syndrome 1 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_and_noonan_related_syndrome Noonan syndrome and Noonan-related syndrome Supplemental_disease_name DISEASE_NAME:noonan_syndrome_cardio_facio_cutaneous_syndrome Noonan syndrome;Cardio-facio-cutaneous syndrome Supplemental_disease_name DISEASE_NAME:noonan_syndrome_juvenile_myelomonocytic_leukemia Noonan syndrome;Juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:noonan_syndrome_like_developmental_disorder Noonan Syndrome-like developmental disorder Supplemental_disease_name DISEASE_NAME:noonan_syndrome_like_disorder_with_juvenile_myelomonocytic_leukemia Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Supplemental_disease_name DISEASE_NAME:noonan_syndrome_noonan_syndrome_with_multiple_lentigines Noonan syndrome;Noonan syndrome with multiple lentigines Supplemental_disease_name DISEASE_NAME:noonan_syndrome_with_multiple_lentigines_noonan_syndrome Noonan syndrome with multiple lentigines;Noonan syndrome Supplemental_disease_name DISEASE_NAME:nop56_related_disorder NOP56-related disorder Supplemental_disease_name DISEASE_NAME:nor_polyagglutination_syndrome NOR polyagglutination syndrome Supplemental_disease_name DISEASE_NAME:normal_pregnancy Normal pregnancy Supplemental_disease_name DISEASE_NAME:normal_pressure_hydrocephalus_spermatogenic_failure_19 Normal pressure hydrocephalus;Spermatogenic failure 19 Supplemental_disease_name DISEASE_NAME:norman_roberts_syndrome_epilepsy_familial_temporal_lobe_1_familial_temporal_lobe_epilepsy_7 Norman-Roberts syndrome;Epilepsy, familial temporal lobe, 1;Familial temporal lobe epilepsy 7 Supplemental_disease_name DISEASE_NAME:norman_roberts_syndrome_familial_temporal_lobe_epilepsy_7 Norman-Roberts syndrome;Familial temporal lobe epilepsy 7 Supplemental_disease_name DISEASE_NAME:norman_roberts_syndrome_familial_temporal_lobe_epilepsy_7_epilepsy_familial_temporal_lobe_1 Norman-Roberts syndrome;Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1 Supplemental_disease_name DISEASE_NAME:normokalemic_periodic_paralysis_potassium_sensitive Normokalemic periodic paralysis, potassium-sensitive Supplemental_disease_name DISEASE_NAME:normophosphatemic_familial_tumoral_calcinosis_mirage_syndrome Normophosphatemic familial tumoral calcinosis;MIRAGE syndrome Supplemental_disease_name DISEASE_NAME:normophosphatemic_familial_tumoral_calcinosis_mirage_syndrome_monosomy_7_myelodysplasia_and_leukemia_syndrome_2 Normophosphatemic familial tumoral calcinosis;MIRAGE syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 2 Supplemental_disease_name DISEASE_NAME:normophosphatemic_familial_tumoral_calcinosis_monosomy_7_myelodysplasia_and_leukemia_syndrome_2_mirage_syndrome Normophosphatemic familial tumoral calcinosis;Monosomy 7 myelodysplasia and leukemia syndrome 2;MIRAGE syndrome Supplemental_disease_name DISEASE_NAME:north_carolina_macular_dystrophy_progressive_bifocal_chorioretinal_atrophy North Carolina macular dystrophy;Progressive bifocal chorioretinal atrophy Supplemental_disease_name DISEASE_NAME:norum_disease_fish_eye_disease Norum disease;Fish-eye disease Supplemental_disease_name DISEASE_NAME:nos1_related_disorder NOS1-related disorder Supplemental_disease_name DISEASE_NAME:nos1ap_related_disorder NOS1AP-related disorder Supplemental_disease_name DISEASE_NAME:nos2_related_disorder NOS2-related disorder Supplemental_disease_name DISEASE_NAME:nos3_related_disorder NOS3-related disorder Supplemental_disease_name DISEASE_NAME:not_provided_autosomal_dominant_nonsyndromic_hearing_loss_65_developmental_and_epileptic_encephalopathy_1 not provided;Autosomal dominant nonsyndromic hearing loss 65;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:not_provided_developmental_and_epileptic_encephalopathy_1_autosomal_dominant_nonsyndromic_hearing_loss_65 not provided;Developmental and epileptic encephalopathy, 1;Autosomal dominant nonsyndromic hearing loss 65 Supplemental_disease_name DISEASE_NAME:not_provided_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5 not provided;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:not_provided_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26 not provided;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:not_provided_hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5 not provided;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:not_provided_hypertrophic_cardiomyopathy_26_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement not provided;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:not_provided_myofibrillar_myopathy_5_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_hypertrophic_cardiomyopathy_26 not provided;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26 Supplemental_disease_name DISEASE_NAME:not_provided_myofibrillar_myopathy_5_hypertrophic_cardiomyopathy_26_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement not provided;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement Supplemental_disease_name DISEASE_NAME:notch1_related_disorder NOTCH1-related disorder Supplemental_disease_name DISEASE_NAME:notch2_related_disorder NOTCH2-related disorder Supplemental_disease_name DISEASE_NAME:notch3_related_disorder NOTCH3-related disorder Supplemental_disease_name DISEASE_NAME:nova2_related_disorder NOVA2-related disorder Supplemental_disease_name DISEASE_NAME:novel_pip5k1c_related_neurodevelopmental_disorder Novel PIP5K1C-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nox1_related_disorder NOX1-related disorder Supplemental_disease_name DISEASE_NAME:npas2_related_disorder NPAS2-related disorder Supplemental_disease_name DISEASE_NAME:npat_related_disorder NPAT-related disorder Supplemental_disease_name DISEASE_NAME:npc1_related_disorder NPC1-related disorder Supplemental_disease_name DISEASE_NAME:npc1l1_related_disorder NPC1L1-related disorder Supplemental_disease_name DISEASE_NAME:npc2_related_disorder NPC2-related disorder Supplemental_disease_name DISEASE_NAME:nphp1_related_disorder NPHP1-related disorder Supplemental_disease_name DISEASE_NAME:nphp3_related_disorder NPHP3-related disorder Supplemental_disease_name DISEASE_NAME:nphp3_related_meckel_like_syndrome NPHP3-related Meckel-like syndrome Supplemental_disease_name DISEASE_NAME:nphp3_related_meckel_like_syndrome_nephronophthisis_3_renal_hepatic_pancreatic_dysplasia_1 NPHP3-related Meckel-like syndrome;Nephronophthisis 3;Renal-hepatic-pancreatic dysplasia 1 Supplemental_disease_name DISEASE_NAME:nphp3_related_meckel_like_syndrome_renal_hepatic_pancreatic_dysplasia_1_nephronophthisis_3 NPHP3-related Meckel-like syndrome;Renal-hepatic-pancreatic dysplasia 1;Nephronophthisis 3 Supplemental_disease_name DISEASE_NAME:nphp4_related_disorder NPHP4-related disorder Supplemental_disease_name DISEASE_NAME:nphs1_related_disorder NPHS1-related disorder Supplemental_disease_name DISEASE_NAME:nphs2_related_disorder NPHS2-related disorder Supplemental_disease_name DISEASE_NAME:npl_related_disorder NPL-related disorder Supplemental_disease_name DISEASE_NAME:npm1_related_disorder NPM1-related disorder Supplemental_disease_name DISEASE_NAME:nppa_related_disorder NPPA-related disorder Supplemental_disease_name DISEASE_NAME:npr2_related_disorder NPR2-related disorder Supplemental_disease_name DISEASE_NAME:npr3_related_disorder NPR3-related disorder Supplemental_disease_name DISEASE_NAME:nprl2_related_disorder NPRL2-related disorder Supplemental_disease_name DISEASE_NAME:nprl3_related_disorder NPRL3-related disorder Supplemental_disease_name DISEASE_NAME:nptn_associated_neurodevelopmental_disorder NPTN-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nptn_related_neurodevelopmental_disorder NPTN-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:npy_polymorphism NPY POLYMORPHISM Supplemental_disease_name DISEASE_NAME:nqo1_related_disorder NQO1-related disorder Supplemental_disease_name DISEASE_NAME:nr0b1_related_disorder NR0B1-related disorder Supplemental_disease_name DISEASE_NAME:nr0b2_related_disorder NR0B2-related disorder Supplemental_disease_name DISEASE_NAME:nr1h4_related_disorder NR1H4-related disorder Supplemental_disease_name DISEASE_NAME:nr1i3_related_disorder NR1I3-related disorder Supplemental_disease_name DISEASE_NAME:nr2e1_related_disorder NR2E1-related disorder Supplemental_disease_name DISEASE_NAME:nr2e3_related_disorder NR2E3-related disorder Supplemental_disease_name DISEASE_NAME:nr2f1_related_disorder NR2F1-related disorder Supplemental_disease_name DISEASE_NAME:nr2f2_associated_disorders NR2F2 associated disorders Supplemental_disease_name DISEASE_NAME:nr2f2_related_congenital_heart_defects NR2F2-related congenital heart defects Supplemental_disease_name DISEASE_NAME:nr2f2_related_disorder NR2F2-related disorder Supplemental_disease_name DISEASE_NAME:nr2f2_releated_disorders NR2F2-Releated Disorders Supplemental_disease_name DISEASE_NAME:nr3c1_polymorphism NR3C1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:nr3c1_related_disorder NR3C1-related disorder Supplemental_disease_name DISEASE_NAME:nr3c2_related_disorder NR3C2-related disorder Supplemental_disease_name DISEASE_NAME:nr4a2_related_disorder NR4A2-related disorder Supplemental_disease_name DISEASE_NAME:nr5a1_related_disorder NR5A1-related disorder Supplemental_disease_name DISEASE_NAME:nrap_related_disorder NRAP-related disorder Supplemental_disease_name DISEASE_NAME:nras_related_disorder NRAS-related disorder Supplemental_disease_name DISEASE_NAME:nrcam_related_disorder NRCAM-related disorder Supplemental_disease_name DISEASE_NAME:nrg1_related_disorder NRG1-related disorder Supplemental_disease_name DISEASE_NAME:nrip1_related_disorder NRIP1-related disorder Supplemental_disease_name DISEASE_NAME:nrk_related_condition NRK-related condition Supplemental_disease_name DISEASE_NAME:nrl_related_disorder NRL-related disorder Supplemental_disease_name DISEASE_NAME:nrp1_related_disorder NRP1-related disorder Supplemental_disease_name DISEASE_NAME:nrp2_related_disorder NRP2-related disorder Supplemental_disease_name DISEASE_NAME:nrros_related_disorder NRROS-related disorder Supplemental_disease_name DISEASE_NAME:nrtn_related_disorder NRTN-related disorder Supplemental_disease_name DISEASE_NAME:nrxn1_related_complex_neurodevelopmental_disorder NRXN1-related Complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nrxn1_related_disorder NRXN1-related disorder Supplemental_disease_name DISEASE_NAME:nrxn2_associated_neurodevelopmental_disorder NRXN2-associated Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nrxn2_related_austism_spectrum_disorder NRXN2-related Austism Spectrum Disorder Supplemental_disease_name DISEASE_NAME:nrxn2_related_autism_spectrum_disorder NRXN2-related autism spectrum disorder Supplemental_disease_name DISEASE_NAME:nrxn2_related_developmental_disorder NRXN2-related developmental disorder Supplemental_disease_name DISEASE_NAME:nrxn2_related_disorder NRXN2-related disorder Supplemental_disease_name DISEASE_NAME:nrxn3_associated_neurodevelopmental_disorder NRXN3-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nrxn3_related_disorder NRXN3-related disorder Supplemental_disease_name DISEASE_NAME:nrxn_related_disorder NRXN-related disorder Supplemental_disease_name DISEASE_NAME:nsd1_related_disorder NSD1-related disorder Supplemental_disease_name DISEASE_NAME:nsd2_associated_disorder_atypical_wolf_hirschhorn_syndrome NSD2-associated disorder;atypical Wolf-Hirschhorn syndrome Supplemental_disease_name DISEASE_NAME:nsd2_related_disorder NSD2-related disorder Supplemental_disease_name DISEASE_NAME:nsd2_related_neurodevelopmental_disorder NSD2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nsd3_related_disorder NSD3-related disorder Supplemental_disease_name DISEASE_NAME:nsdhl_related_disorder NSDHL-related disorder Supplemental_disease_name DISEASE_NAME:nsmce2_related_disorder NSMCE2-related disorder Supplemental_disease_name DISEASE_NAME:nsmce3_related_disorder NSMCE3-related disorder Supplemental_disease_name DISEASE_NAME:nsmf_related_disorder NSMF-related disorder Supplemental_disease_name DISEASE_NAME:nsrp1_related_disorder NSRP1-related disorder Supplemental_disease_name DISEASE_NAME:nsun2_related_disorder NSUN2-related disorder Supplemental_disease_name DISEASE_NAME:nsun3_related_disorder NSUN3-related disorder Supplemental_disease_name DISEASE_NAME:nt5c2_related_disorder NT5C2-related disorder Supplemental_disease_name DISEASE_NAME:nt5c3a_related_disorder NT5C3A-related disorder Supplemental_disease_name DISEASE_NAME:nt5e_related_disorder NT5E-related disorder Supplemental_disease_name DISEASE_NAME:ntf4_related_disorder NTF4-related disorder Supplemental_disease_name DISEASE_NAME:nthl1_deficiency_tumor_predisposition_syndrome NTHL1-deficiency tumor predisposition syndrome Supplemental_disease_name DISEASE_NAME:nthl1_related_disorder NTHL1-related disorder Supplemental_disease_name DISEASE_NAME:ntn1_related_disorder NTN1-related disorder Supplemental_disease_name DISEASE_NAME:ntng1_related_disorder NTNG1-related disorder Supplemental_disease_name DISEASE_NAME:ntrk1_related_disorder NTRK1-related disorder Supplemental_disease_name DISEASE_NAME:ntrk2_related_disorder NTRK2-related disorder Supplemental_disease_name DISEASE_NAME:ntrk3_related_disorder NTRK3-related disorder Supplemental_disease_name DISEASE_NAME:nuak1_related_disorder NUAK1-related disorder Supplemental_disease_name DISEASE_NAME:nuak2_related_disorder NUAK2-related disorder Supplemental_disease_name DISEASE_NAME:nubpl_related_disorder NUBPL-related disorder Supplemental_disease_name DISEASE_NAME:nuclear_pulverulent_cataract Nuclear pulverulent cataract Supplemental_disease_name DISEASE_NAME:nudc_related_condition NUDC-related condition Supplemental_disease_name DISEASE_NAME:nudt15_related_disorder NUDT15-related disorder Supplemental_disease_name DISEASE_NAME:nudt2_associated_condition NUDT2-associated condition Supplemental_disease_name DISEASE_NAME:nudt6_related_disorder NUDT6-related disorder Supplemental_disease_name DISEASE_NAME:nuerodevelopment_disorder Nuerodevelopment disorder Supplemental_disease_name DISEASE_NAME:numa1_related_disorder NUMA1-related disorder Supplemental_disease_name DISEASE_NAME:nup107_related_disorder NUP107-related disorder Supplemental_disease_name DISEASE_NAME:nup133_related_disorder NUP133-related disorder Supplemental_disease_name DISEASE_NAME:nup14_related_disorders NUP14 Related Disorders Supplemental_disease_name DISEASE_NAME:nup155_related_disorder NUP155-related disorder Supplemental_disease_name DISEASE_NAME:nup160_related_disorder NUP160-related disorder Supplemental_disease_name DISEASE_NAME:nup188_related_disorder NUP188-related disorder Supplemental_disease_name DISEASE_NAME:nup205_related_disorder NUP205-related disorder Supplemental_disease_name DISEASE_NAME:nup210_related_disorder NUP210-related disorder Supplemental_disease_name DISEASE_NAME:nup214_related_disorder NUP214-related disorder Supplemental_disease_name DISEASE_NAME:nup37_related_disorder NUP37-related disorder Supplemental_disease_name DISEASE_NAME:nup62_related_disorder NUP62-related disorder Supplemental_disease_name DISEASE_NAME:nup85_related_disorder NUP85-related disorder Supplemental_disease_name DISEASE_NAME:nup88_related_disorder NUP88-related disorder Supplemental_disease_name DISEASE_NAME:nup93_related_disorder NUP93-related disorder Supplemental_disease_name DISEASE_NAME:nus1_related_disorder NUS1-related disorder Supplemental_disease_name DISEASE_NAME:nus1_related_epilepsy_myoclonus_ataxia_syndrome NUS1-related epilepsy-myoclonus-ataxia syndrome Supplemental_disease_name DISEASE_NAME:nusap1_associated_neurodevelopmental_disorder NUSAP1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:nxf5_related_disorder NXF5-related disorder Supplemental_disease_name DISEASE_NAME:nxn_related_disorder NXN-related disorder Supplemental_disease_name DISEASE_NAME:nxnl1_related_disorder NXNL1-related disorder Supplemental_disease_name DISEASE_NAME:nxt2_related_condition NXT2-related condition Supplemental_disease_name DISEASE_NAME:nynrin_related_disorder NYNRIN-related disorder Supplemental_disease_name DISEASE_NAME:nystagmus_1_congenital_x_linked Nystagmus 1, congenital, X-linked Supplemental_disease_name DISEASE_NAME:nystagmus_1_congenital_x_linked_simpson_golabi_behmel_syndrome_type_1 Nystagmus 1, congenital, X-linked;Simpson-Golabi-Behmel syndrome type 1 Supplemental_disease_name DISEASE_NAME:nystagmus_6_congenital_x_linked Nystagmus 6, congenital, X-linked Supplemental_disease_name DISEASE_NAME:nystagmus_6_congenital_x_linked_ocular_albinism_type_i Nystagmus 6, congenital, X-linked;Ocular albinism, type I Supplemental_disease_name DISEASE_NAME:nystagmus_ataxia Nystagmus;Ataxia Supplemental_disease_name DISEASE_NAME:nystagmus_central_hypotonia_molar_tooth_sign_on_mri Nystagmus;Central hypotonia;Molar tooth sign on MRI Supplemental_disease_name DISEASE_NAME:nystagmus_congenital_autosomal_recessive Nystagmus, congenital, autosomal recessive Supplemental_disease_name DISEASE_NAME:nystagmus_congenital_autosomal_recessive_neurooculorenal_syndrome Nystagmus, congenital, autosomal recessive;Neurooculorenal syndrome Supplemental_disease_name DISEASE_NAME:nystagmus_high_myopia_early_onset Nystagmus;High myopia, early-onset Supplemental_disease_name DISEASE_NAME:nystagmus_microcornea_developmental_cataract_sclerocornea Nystagmus;Microcornea;Developmental cataract;Sclerocornea Supplemental_disease_name DISEASE_NAME:nystagmus_microphthalmia_microcornea_developmental_cataract Nystagmus;Microphthalmia;Microcornea;Developmental cataract Supplemental_disease_name DISEASE_NAME:nystagmus_visual_impairment_hypertelorism Nystagmus;Visual impairment;Hypertelorism Supplemental_disease_name DISEASE_NAME:nyx_related_disorder NYX-related disorder Supplemental_disease_name DISEASE_NAME:o_donnell_luria_rodan_syndrome O'Donnell-Luria-Rodan syndrome Supplemental_disease_name DISEASE_NAME:oas1_polymorphism OAS1 polymorphism Supplemental_disease_name DISEASE_NAME:oas1_related_disorder OAS1-related disorder Supplemental_disease_name DISEASE_NAME:oat_related_disorder OAT-related disorder Supplemental_disease_name DISEASE_NAME:obesity_age_at_onset_of Obesity, age at onset of Supplemental_disease_name DISEASE_NAME:obesity_and_hypopigmentation Obesity and hypopigmentation Supplemental_disease_name DISEASE_NAME:obesity_association_with Obesity, association with Supplemental_disease_name DISEASE_NAME:obesity_autosomal_dominant Obesity, autosomal dominant Supplemental_disease_name DISEASE_NAME:obesity_bmiq14_susceptibility_to OBESITY (BMIQ14), SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:obesity_bmiq17_susceptibility_to OBESITY (BMIQ17), SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:obesity_bmiq9_susceptibility_to OBESITY (BMIQ9), SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:obesity_due_to_cep19_deficiency Obesity due to CEP19 deficiency Supplemental_disease_name DISEASE_NAME:obesity_due_to_leptin_receptor_gene_deficiency Obesity due to leptin receptor gene deficiency Supplemental_disease_name DISEASE_NAME:obesity_due_to_melanocortin_4_receptor_deficiency Obesity due to melanocortin 4 receptor deficiency Supplemental_disease_name DISEASE_NAME:obesity_due_to_pro_opiomelanocortin_deficiency Obesity due to pro-opiomelanocortin deficiency Supplemental_disease_name DISEASE_NAME:obesity_due_to_pro_opiomelanocortin_deficiency_inherited_obesity Obesity due to pro-opiomelanocortin deficiency;Inherited obesity Supplemental_disease_name DISEASE_NAME:obesity_due_to_pro_opiomelanocortin_deficiency_obesity Obesity due to pro-opiomelanocortin deficiency;Obesity Supplemental_disease_name DISEASE_NAME:obesity_due_to_sim1_deficiency Obesity due to SIM1 deficiency Supplemental_disease_name DISEASE_NAME:obesity_early_onset_susceptibility_to Obesity, early-onset, susceptibility to Supplemental_disease_name DISEASE_NAME:obesity_hyperphagia_and_developmental_delay Obesity, hyperphagia, and developmental delay Supplemental_disease_name DISEASE_NAME:obesity_hyperphagia_and_developmental_delay_developmental_and_epileptic_encephalopathy_58 Obesity, hyperphagia, and developmental delay;Developmental and epileptic encephalopathy, 58 Supplemental_disease_name DISEASE_NAME:obesity_hypophosphatemic_rickets_autosomal_recessive_2_type_2_diabetes_mellitus_arterial_calcification_generalized_of_infancy_1_hypopigmentation_punctate_palmoplantar_keratoderma_syndrome Obesity;Hypophosphatemic rickets, autosomal recessive, 2;Type 2 diabetes mellitus;Arterial calcification, generalized, of infancy, 1;Hypopigmentation-punctate palmoplantar keratoderma syndrome Supplemental_disease_name DISEASE_NAME:obesity_late_onset Obesity, late-onset Supplemental_disease_name DISEASE_NAME:obesity_mild_early_onset Obesity, mild, early-onset Supplemental_disease_name DISEASE_NAME:obesity_obesity_due_to_pro_opiomelanocortin_deficiency Obesity;Obesity due to pro-opiomelanocortin deficiency Supplemental_disease_name DISEASE_NAME:obesity_resistance_to OBESITY, RESISTANCE TO Supplemental_disease_name DISEASE_NAME:obesity_severe_and_type_ii_diabetes Obesity, severe, and type II diabetes Supplemental_disease_name DISEASE_NAME:obesity_with_prader_willi_like_phenotype Obesity with Prader-Willi like phenotype Supplemental_disease_name DISEASE_NAME:obscn_related_disorder OBSCN-related disorder Supplemental_disease_name DISEASE_NAME:obsessive_compulsive_disorder_susceptibility_to Obsessive-compulsive disorder, susceptibility to Supplemental_disease_name DISEASE_NAME:obsl1_related_disorder OBSL1-related disorder Supplemental_disease_name DISEASE_NAME:obstructive_azoospermia Obstructive azoospermia Supplemental_disease_name DISEASE_NAME:oca2_related_disorder OCA2-related disorder Supplemental_disease_name DISEASE_NAME:occipital_encephalocele Occipital encephalocele Supplemental_disease_name DISEASE_NAME:occipital_encephalocele_cystic_renal_dysplasia Occipital encephalocele;Cystic renal dysplasia Supplemental_disease_name DISEASE_NAME:occipital_pachygyria_and_polymicrogyria Occipital pachygyria and polymicrogyria Supplemental_disease_name DISEASE_NAME:occular_surface_disease Occular surface disease Supplemental_disease_name DISEASE_NAME:occult_macular_dystrophy_retinitis_pigmentosa_88 Occult macular dystrophy;Retinitis pigmentosa 88 Supplemental_disease_name DISEASE_NAME:occult_maculopathy Occult maculopathy Supplemental_disease_name DISEASE_NAME:ocln_related_disorder OCLN-related disorder Supplemental_disease_name DISEASE_NAME:ocrl_related_disorder OCRL-related disorder Supplemental_disease_name DISEASE_NAME:ocular_albinism_reduced_eye_contact_nystagmus Ocular albinism;Reduced eye contact;Nystagmus Supplemental_disease_name DISEASE_NAME:ocular_albinism_type_i Ocular albinism, type I Supplemental_disease_name DISEASE_NAME:ocular_albinism_type_i_nystagmus_6_congenital_x_linked Ocular albinism, type I;Nystagmus 6, congenital, X-linked Supplemental_disease_name DISEASE_NAME:ocular_albinism_with_congenital_sensorineural_hearing_loss Ocular albinism with congenital sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:ocular_albinism_with_congenital_sensorineural_hearing_loss_oculocutaneous_albinism_type_1b_oculocutaneous_albinism_type_1a_skin_hair_eye_pigmentation_3_light_dark_skin Ocular albinism with congenital sensorineural hearing loss;Oculocutaneous albinism type 1B;Oculocutaneous albinism type 1A;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN Supplemental_disease_name DISEASE_NAME:ocular_cystinosis Ocular cystinosis Supplemental_disease_name DISEASE_NAME:ocular_cystinosis_inborn_genetic_diseases_juvenile_nephropathic_cystinosis Ocular cystinosis;Inborn genetic diseases;Juvenile nephropathic cystinosis Supplemental_disease_name DISEASE_NAME:ocular_cystinosis_juvenile_nephropathic_cystinosis_inborn_genetic_diseases Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases Supplemental_disease_name DISEASE_NAME:ocular_cystinosis_juvenile_nephropathic_cystinosis_nephropathic_cystinosis Ocular cystinosis;Juvenile nephropathic cystinosis;Nephropathic cystinosis Supplemental_disease_name DISEASE_NAME:ocular_cystinosis_nephropathic_cystinosis_juvenile_nephropathic_cystinosis Ocular cystinosis;Nephropathic cystinosis;Juvenile nephropathic cystinosis Supplemental_disease_name DISEASE_NAME:ocular_impairment Ocular impairment Supplemental_disease_name DISEASE_NAME:ocular_pterygium_digital_keloid_dysplasia_syndrome Ocular pterygium-digital keloid dysplasia syndrome Supplemental_disease_name DISEASE_NAME:oculocerebrodental_syndrome Oculocerebrodental syndrome Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1 Oculocutaneous albinism type 1 Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1a Oculocutaneous albinism type 1A Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1a_oculocutaneous_albinism_type_1b Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1a_oculocutaneous_albinism_type_1b_ocular_albinism_with_congenital_sensorineural_hearing_loss_skin_hair_eye_pigmentation_3_light_dark_skin Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;Ocular albinism with congenital sensorineural hearing loss;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1a_oculocutaneous_albinism_type_1b_skin_hair_eye_pigmentation_3_light_dark_skin Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1a_skin_hair_eye_pigmentation_3_light_dark_skin Oculocutaneous albinism type 1A;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1a_skin_hair_eye_pigmentation_3_light_dark_skin_ocular_albinism_with_congenital_sensorineural_hearing_loss_oculocutaneous_albinism_type_1b Oculocutaneous albinism type 1A;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Ocular albinism with congenital sensorineural hearing loss;Oculocutaneous albinism type 1B Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1a_skin_hair_eye_pigmentation_3_light_dark_skin_oculocutaneous_albinism_type_1b Oculocutaneous albinism type 1A;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1B Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1b Oculocutaneous albinism type 1B Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1b_oculocutaneous_albinism_type_1a Oculocutaneous albinism type 1B;Oculocutaneous albinism type 1A Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1b_oculocutaneous_albinism_type_1a_skin_hair_eye_pigmentation_3_light_dark_skin Oculocutaneous albinism type 1B;Oculocutaneous albinism type 1A;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_1b_skin_hair_eye_pigmentation_3_light_dark_skin_oculocutaneous_albinism_type_1a Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_3 Oculocutaneous albinism type 3 Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_3_melanesian_blond_hair Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_4 Oculocutaneous albinism type 4 Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_4_skin_hair_eye_pigmentation_5_black_nonblack_hair Oculocutaneous albinism type 4;SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_6 Oculocutaneous albinism type 6 Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_7 Oculocutaneous albinism type 7 Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_8 Oculocutaneous albinism type 8 Supplemental_disease_name DISEASE_NAME:oculodentodigital_dysplasia_autosomal_recessive Oculodentodigital dysplasia, autosomal recessive Supplemental_disease_name DISEASE_NAME:oculoectodermal_syndrome_somatic OCULOECTODERMAL SYNDROME, SOMATIC Supplemental_disease_name DISEASE_NAME:oculofaciocardiodental_syndrome_microphthalmia_syndromic_1 Oculofaciocardiodental syndrome;Microphthalmia, syndromic 1 Supplemental_disease_name DISEASE_NAME:oculofaciocardiodental_syndrome_ofcd Oculofaciocardiodental syndrome (OFCD) Supplemental_disease_name DISEASE_NAME:oculogastrointestinal_neurodevelopmental_syndrome Oculogastrointestinal neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:oculomaxillofacial_dysostosis Oculomaxillofacial dysostosis Supplemental_disease_name DISEASE_NAME:oculomaxillofacial_dysostosis_teebi_hypertelorism_syndrome_1 Oculomaxillofacial dysostosis;Teebi hypertelorism syndrome 1 Supplemental_disease_name DISEASE_NAME:oculomotor_abducens_synkinesis Oculomotor-abducens synkinesis Supplemental_disease_name DISEASE_NAME:oculomotor_apraxia Oculomotor apraxia Supplemental_disease_name DISEASE_NAME:oculomotor_apraxia_cogan_type Oculomotor apraxia - Cogan type Supplemental_disease_name DISEASE_NAME:oculootoradial_syndrome_duane_radial_ray_syndrome Oculootoradial syndrome;Duane-radial ray syndrome Supplemental_disease_name DISEASE_NAME:oculopharyngeal_muscular_dystrophy_1 Oculopharyngeal muscular dystrophy 1 Supplemental_disease_name DISEASE_NAME:oculopharyngeal_muscular_dystrophy_2 Oculopharyngeal muscular dystrophy 2 Supplemental_disease_name DISEASE_NAME:oculopharyngeal_myopathy_with_leukoencephalopathy_1 Oculopharyngeal myopathy with leukoencephalopathy 1 Supplemental_disease_name DISEASE_NAME:oculopharyngodistal_myopathy_1_amyotrophic_lateral_sclerosis_28 Oculopharyngodistal myopathy 1;Amyotrophic lateral sclerosis 28 Supplemental_disease_name DISEASE_NAME:oculopharyngodistal_myopathy_5 Oculopharyngodistal myopathy 5 Supplemental_disease_name DISEASE_NAME:oculotrichoanal_syndrome Oculotrichoanal syndrome Supplemental_disease_name DISEASE_NAME:oculotrichoanal_syndrome_bnar_syndrome Oculotrichoanal syndrome;BNAR syndrome Supplemental_disease_name DISEASE_NAME:oculotrichoanal_syndrome_bnar_syndrome_trigonocephaly_2 Oculotrichoanal syndrome;BNAR syndrome;Trigonocephaly 2 Supplemental_disease_name DISEASE_NAME:oculotrichoanal_syndrome_trigonocephaly_2_bnar_syndrome Oculotrichoanal syndrome;Trigonocephaly 2;BNAR syndrome Supplemental_disease_name DISEASE_NAME:oculovertebral_syndrome Oculovertebral syndrome Supplemental_disease_name DISEASE_NAME:odad1_related_disorder ODAD1-related disorder Supplemental_disease_name DISEASE_NAME:odad2_related_disorder ODAD2-related disorder Supplemental_disease_name DISEASE_NAME:odad3_related_disorder ODAD3-related disorder Supplemental_disease_name DISEASE_NAME:odad4_related_disorder ODAD4-related disorder Supplemental_disease_name DISEASE_NAME:odaph_related_disorder ODAPH-related disorder Supplemental_disease_name DISEASE_NAME:odc1_related_disorder ODC1-related disorder Supplemental_disease_name DISEASE_NAME:odf2_related_disorder ODF2-related disorder Supplemental_disease_name DISEASE_NAME:odonto_onycho_dermal_dysplasia Odonto-onycho-dermal dysplasia Supplemental_disease_name DISEASE_NAME:odonto_onycho_dermal_dysplasia_schöpf_schulz_passarge_syndrome_tooth_agenesis_selective_4 Odonto-onycho-dermal dysplasia;Schöpf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4 Supplemental_disease_name DISEASE_NAME:odonto_onycho_dermal_dysplasia_tooth_agenesis_selective_4 Odonto-onycho-dermal dysplasia;Tooth agenesis, selective, 4 Supplemental_disease_name DISEASE_NAME:odonto_onycho_dermal_dysplasia_tooth_agenesis_selective_4_schöpf_schulz_passarge_syndrome Odonto-onycho-dermal dysplasia;Tooth agenesis, selective, 4;Schöpf-Schulz-Passarge syndrome Supplemental_disease_name DISEASE_NAME:odontochondrodysplasia Odontochondrodysplasia Supplemental_disease_name DISEASE_NAME:odontochondrodysplasia2_with_hearing_loss_and_diabetes Odontochondrodysplasia2 with hearing loss and diabetes Supplemental_disease_name DISEASE_NAME:odontochondrodysplasia_1 Odontochondrodysplasia 1 Supplemental_disease_name DISEASE_NAME:odontochondrodysplasia_1_achondrogenesis_type_ia Odontochondrodysplasia 1;Achondrogenesis, type IA Supplemental_disease_name DISEASE_NAME:odontochondrodysplasia_2_with_hearing_loss_and_diabetes Odontochondrodysplasia 2 with hearing loss and diabetes Supplemental_disease_name DISEASE_NAME:odontochondrodysplasia_with_hearing_loss_and_diabetes ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES Supplemental_disease_name DISEASE_NAME:odontohypophosphatasia Odontohypophosphatasia Supplemental_disease_name DISEASE_NAME:ofd1_related_ciliopathy OFD1-related ciliopathy Supplemental_disease_name DISEASE_NAME:ofd1_related_disorder OFD1-related disorder Supplemental_disease_name DISEASE_NAME:ogden_syndrome_microphthalmia_syndromic_1 Ogden syndrome;Microphthalmia, syndromic 1 Supplemental_disease_name DISEASE_NAME:ogdh_related_disorder OGDH-related disorder Supplemental_disease_name DISEASE_NAME:ogdhl_related_disorder OGDHL-related disorder Supplemental_disease_name DISEASE_NAME:ogg1_related_disorder OGG1-related disorder Supplemental_disease_name DISEASE_NAME:ogt_related_disorder OGT-related disorder Supplemental_disease_name DISEASE_NAME:oguchi_disease Oguchi disease Supplemental_disease_name DISEASE_NAME:oguchi_disease_1_retinitis_pigmentosa_47 Oguchi disease-1;Retinitis pigmentosa 47 Supplemental_disease_name DISEASE_NAME:oguchi_disease_1_retinitis_pigmentosa_47_retinitis_pigmentosa_96 Oguchi disease-1;Retinitis pigmentosa 47;Retinitis pigmentosa 96 Supplemental_disease_name DISEASE_NAME:okt4_epitope_deficiency Okt4 epitope deficiency Supplemental_disease_name DISEASE_NAME:okt4_epitope_deficiency_immunodeficiency_79 Okt4 epitope deficiency;Immunodeficiency 79 Supplemental_disease_name DISEASE_NAME:okur_chung_neurodevelopmental_syndrome Okur-chung neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:olaparib_response Olaparib response Supplemental_disease_name DISEASE_NAME:oligodendroglioma_1p_19q_codeleted oligodendroglioma, 1p 19q codeleted Supplemental_disease_name DISEASE_NAME:oligodontia_abnormal_facial_shape_short_stature_hyperostosis Oligodontia;Abnormal facial shape;Short stature;Hyperostosis Supplemental_disease_name DISEASE_NAME:oligodontia_cancer_predisposition_syndrome Oligodontia-cancer predisposition syndrome Supplemental_disease_name DISEASE_NAME:oligodontia_cancer_predisposition_syndrome_axin2_related_attenuated_familial_adenomatous_polyposis Oligodontia-cancer predisposition syndrome;AXIN2-related attenuated familial adenomatous polyposis Supplemental_disease_name DISEASE_NAME:oligodontia_cancer_predisposition_syndrome_carcinoma_of_colon Oligodontia-cancer predisposition syndrome;Carcinoma of colon Supplemental_disease_name DISEASE_NAME:oligodontia_cancer_predisposition_syndrome_colorectal_cancer Oligodontia-cancer predisposition syndrome;Colorectal cancer Supplemental_disease_name DISEASE_NAME:oligodontia_colorectal_cancer Oligodontia;Colorectal cancer Supplemental_disease_name DISEASE_NAME:oligodontia_colorectal_cancer_syndrome Oligodontia-colorectal cancer syndrome Supplemental_disease_name DISEASE_NAME:oligohydramnios_renal_cyst_joubert_syndrome Oligohydramnios;Renal cyst;Joubert syndrome Supplemental_disease_name DISEASE_NAME:oligomenorrhea_aplasia_hypoplasia_of_the_breasts Oligomenorrhea;Aplasia/Hypoplasia of the breasts Supplemental_disease_name DISEASE_NAME:oligosynaptic_infertility_46_xy_differences_of_sex_development Oligosynaptic infertility;46 XY differences of sex development Supplemental_disease_name DISEASE_NAME:oligosynaptic_infertility_46_xy_sex_reversal_3 Oligosynaptic infertility;46,XY sex reversal 3 Supplemental_disease_name DISEASE_NAME:oligosynaptic_infertility_acromesomelic_dysplasia_2b Oligosynaptic infertility;Acromesomelic dysplasia 2B Supplemental_disease_name DISEASE_NAME:olivopontocerebellar_hypoplasia Olivopontocerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:olmsted_syndrome_2 Olmsted syndrome 2 Supplemental_disease_name DISEASE_NAME:olmsted_syndrome_x_linked Olmsted syndrome, X-linked Supplemental_disease_name DISEASE_NAME:olr1_related_disorder OLR1-related disorder Supplemental_disease_name DISEASE_NAME:omg_related_disorder OMG-related disorder Supplemental_disease_name DISEASE_NAME:omim_606604 OMIM: 606604 Supplemental_disease_name DISEASE_NAME:omim_607463 OMIM:607463 Supplemental_disease_name DISEASE_NAME:onset_encephalopathy Onset encephalopathy Supplemental_disease_name DISEASE_NAME:onychodystrophy_osteodystrophy_impaired_intellectual_development_and_seizures_syndrome Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_10 Oocyte maturation defect 10 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_11 Oocyte maturation defect 11 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_12 Oocyte maturation defect 12 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_13 Oocyte maturation defect 13 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_14 Oocyte maturation defect 14 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_2 Oocyte maturation defect 2 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_3 Oocyte maturation defect 3 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_4 Oocyte maturation defect 4 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_5 Oocyte maturation defect 5 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_6 Oocyte maturation defect 6 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_7 Oocyte maturation defect 7 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_8 Oocyte maturation defect 8 Supplemental_disease_name DISEASE_NAME:oocyte_maturation_defect_9 Oocyte maturation defect 9 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest Oocyte/zygote/embryo maturation arrest Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_16 Oocyte/zygote/embryo maturation arrest 16 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_17 Oocyte/zygote/embryo maturation arrest 17 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_18 Oocyte/zygote/embryo maturation arrest 18 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_19 Oocyte/zygote/embryo maturation arrest 19 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_20 Oocyte/zygote/embryo maturation arrest 20 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_21 Oocyte/zygote/embryo maturation arrest 21 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_22 Oocyte/zygote/embryo maturation arrest 22 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_23 Oocyte/zygote/embryo maturation arrest 23 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_24 Oocyte/zygote/embryo maturation arrest 24 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_25 Oocyte/zygote/embryo maturation arrest 25 Supplemental_disease_name DISEASE_NAME:oocyte_zygote_embryo_maturation_arrest_26 OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 26 Supplemental_disease_name DISEASE_NAME:opa1_related_disorder OPA1-related disorder Supplemental_disease_name DISEASE_NAME:opa1_related_disorders_autosomal_recessive OPA1-Related Disorders Autosomal Recessive Supplemental_disease_name DISEASE_NAME:opa1_related_optic_atrophy_with_or_without_extraocular_features OPA1-related optic atrophy with or without extraocular features Supplemental_disease_name DISEASE_NAME:opa3_related_disorder OPA3-related disorder Supplemental_disease_name DISEASE_NAME:opcml_related_disorder OPCML-related disorder Supplemental_disease_name DISEASE_NAME:ophn1_related_disorder OPHN1-related disorder Supplemental_disease_name DISEASE_NAME:ophthalmoplegia_external_with_rib_and_vertebral_anomalies Ophthalmoplegia, external, with rib and vertebral anomalies Supplemental_disease_name DISEASE_NAME:ophthalmoplegia_isolated Ophthalmoplegia, isolated Supplemental_disease_name DISEASE_NAME:opioid_dependence_susceptibility_to_1 Opioid dependence, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:oplah_related_disorder OPLAH-related disorder Supplemental_disease_name DISEASE_NAME:opn1sw_related_disorder OPN1SW-related disorder Supplemental_disease_name DISEASE_NAME:opsismodysplasia Opsismodysplasia Supplemental_disease_name DISEASE_NAME:opsoclonus_myoclonus_syndrome Opsoclonus-myoclonus syndrome Supplemental_disease_name DISEASE_NAME:optc_related_disorder OPTC-related disorder Supplemental_disease_name DISEASE_NAME:optic_atrophy_10_with_or_without_ataxia_intellectual_disability_and_seizures Optic atrophy 10 with or without ataxia, intellectual disability, and seizures Supplemental_disease_name DISEASE_NAME:optic_atrophy_12_spastic_ataxia_5_spinocerebellar_ataxia_type_28 Optic atrophy 12;Spastic ataxia 5;Spinocerebellar ataxia type 28 Supplemental_disease_name DISEASE_NAME:optic_atrophy_12_spinocerebellar_ataxia_type_28_spastic_ataxia_5 Optic atrophy 12;Spinocerebellar ataxia type 28;Spastic ataxia 5 Supplemental_disease_name DISEASE_NAME:optic_atrophy_13_with_retinal_and_foveal_abnormalities Optic atrophy 13 with retinal and foveal abnormalities Supplemental_disease_name DISEASE_NAME:optic_atrophy_14 Optic atrophy 14 Supplemental_disease_name DISEASE_NAME:optic_atrophy_15 Optic atrophy 15 Supplemental_disease_name DISEASE_NAME:optic_atrophy_16 Optic atrophy 16 Supplemental_disease_name DISEASE_NAME:optic_atrophy_16_dystonia_childhood_onset_with_optic_atrophy_and_basal_ganglia_abnormalities Optic atrophy 16;Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities Supplemental_disease_name DISEASE_NAME:optic_atrophy_3_3_methylglutaconic_aciduria Optic atrophy 3;3-Methylglutaconic aciduria Supplemental_disease_name DISEASE_NAME:optic_atrophy_3_3_methylglutaconic_aciduria_type_3 Optic atrophy 3;3-Methylglutaconic aciduria type 3 Supplemental_disease_name DISEASE_NAME:optic_atrophy_5_encephalopathy_lethal_due_to_defective_mitochondrial_peroxisomal_fission_1 Optic atrophy 5;Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Supplemental_disease_name DISEASE_NAME:optic_atrophy_9_autosomal_recessive OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:optic_atrophy_9_infantile_cerebellar_retinal_degeneration Optic atrophy 9;Infantile cerebellar-retinal degeneration Supplemental_disease_name DISEASE_NAME:optic_atrophy_abnormal_choroid_morphology_visual_field_defect_pain Optic atrophy;Abnormal choroid morphology;Visual field defect;Pain Supplemental_disease_name DISEASE_NAME:optic_atrophy_ataxia_peripheral_neuropathy_global_developmental_delay_syndrome Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Supplemental_disease_name DISEASE_NAME:optic_atrophy_developmental_regression_profound_global_developmental_delay_peripheral_hypomyelination_cns_hypomyelination Optic atrophy;Developmental regression;Profound global developmental delay;Peripheral hypomyelination;CNS hypomyelination Supplemental_disease_name DISEASE_NAME:optic_atrophy_diminished_deep_tendon_reflex Optic atrophy;Diminished deep tendon reflex Supplemental_disease_name DISEASE_NAME:optic_atrophy_global_developmental_delay_intractable_seizure Optic atrophy;Global developmental delay;Intractable seizure Supplemental_disease_name DISEASE_NAME:optic_atrophy_peripheral_edema_hypsarrhythmia_epileptic_encephalopathy_progressive_encephalopathy Optic atrophy;Peripheral edema;Hypsarrhythmia;Epileptic encephalopathy;Progressive encephalopathy Supplemental_disease_name DISEASE_NAME:optic_atrophy_sensorineural_hearing_loss_disorder Optic atrophy;Sensorineural hearing loss disorder Supplemental_disease_name DISEASE_NAME:optic_atrophy_spastic_paraparesis Optic atrophy;Spastic paraparesis Supplemental_disease_name DISEASE_NAME:optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_abortive_cerebellar_ataxia_mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type_autosomal_dominant_optic_atrophy_classic_form Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Abortive cerebellar ataxia;Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type);Autosomal dominant optic atrophy classic form Supplemental_disease_name DISEASE_NAME:optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_autosomal_dominant_optic_atrophy_classic_form Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Autosomal dominant optic atrophy classic form Supplemental_disease_name DISEASE_NAME:optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_autosomal_dominant_optic_atrophy_classic_form_glaucoma_normal_tension_susceptibility_to_mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type_abortive_cerebellar_ataxia Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Autosomal dominant optic atrophy classic form;Glaucoma, normal tension, susceptibility to;Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type);Abortive cerebellar ataxia Supplemental_disease_name DISEASE_NAME:optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_glaucoma_normal_tension_susceptibility_to_mitochondrial_dna_depletion_syndrome_14b_cardioencephalomyopathic_type_abortive_cerebellar_ataxia_autosomal_dominant_optic_atrophy_classic_form Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Glaucoma, normal tension, susceptibility to;Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type);Abortive cerebellar ataxia;Autosomal dominant optic atrophy classic form Supplemental_disease_name DISEASE_NAME:optic_nerve_aplasia_bilateral Optic nerve aplasia, bilateral Supplemental_disease_name DISEASE_NAME:optic_nerve_glioma_axillary_freckling_cafe_au_lait_spot Optic nerve glioma;Axillary freckling;Cafe-au-lait spot Supplemental_disease_name DISEASE_NAME:optic_nerve_glioma_cafe_au_lait_spots_multiple Optic nerve glioma;Cafe au lait spots, multiple Supplemental_disease_name DISEASE_NAME:optic_nerve_hypoplasia Optic nerve hypoplasia Supplemental_disease_name DISEASE_NAME:optic_nerve_hypoplasia_and_abnormalities_of_the_central_nervous_system OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM Supplemental_disease_name DISEASE_NAME:optic_nerve_hypoplasia_foveal_hypoplasia Optic nerve hypoplasia;Foveal hypoplasia Supplemental_disease_name DISEASE_NAME:optic_neuropathy_visual_loss_abnormal_electroretinogram Optic neuropathy;Visual loss;Abnormal electroretinogram Supplemental_disease_name DISEASE_NAME:opticusatrophia opticusatrophia Supplemental_disease_name DISEASE_NAME:optn_related_disorder OPTN-related disorder Supplemental_disease_name DISEASE_NAME:or2w3_related_disorder OR2W3-related disorder Supplemental_disease_name DISEASE_NAME:or4p4_related_disorder OR4P4-related disorder Supplemental_disease_name DISEASE_NAME:or52m1_related_disorder OR52M1-related disorder Supplemental_disease_name DISEASE_NAME:orai1_related_disorder ORAI1-related disorder Supplemental_disease_name DISEASE_NAME:oral_cancer Oral cancer Supplemental_disease_name DISEASE_NAME:oral_squamous_epithelial_carcinoma Oral squamous epithelial carcinoma Supplemental_disease_name DISEASE_NAME:orc1_related_disorder ORC1-related disorder Supplemental_disease_name DISEASE_NAME:orc3_related_disorder ORC3-related disorder Supplemental_disease_name DISEASE_NAME:orc4_related_disorder ORC4-related disorder Supplemental_disease_name DISEASE_NAME:orc6_related_disorder ORC6-related disorder Supplemental_disease_name DISEASE_NAME:ornithine_aminotransferase_deficiency Ornithine aminotransferase deficiency Supplemental_disease_name DISEASE_NAME:ornithine_decarboxylase_1_polymorphism Ornithine decarboxylase 1 polymorphism Supplemental_disease_name DISEASE_NAME:ornithine_transcarbamylase_polymorphism ORNITHINE TRANSCARBAMYLASE POLYMORPHISM Supplemental_disease_name DISEASE_NAME:orofacial_cleft_10_selective_tooth_agenesis Orofacial cleft 10;Selective tooth agenesis Supplemental_disease_name DISEASE_NAME:orofacial_cleft_11_microphthalmia_with_brain_and_digit_anomalies Orofacial cleft 11;Microphthalmia with brain and digit anomalies Supplemental_disease_name DISEASE_NAME:orofacial_cleft_6_susceptibility_to Orofacial cleft 6, susceptibility to Supplemental_disease_name DISEASE_NAME:orofacial_cleft_6_susceptibility_to_autosomal_dominant_popliteal_pterygium_syndrome_van_der_woude_syndrome_1 Orofacial cleft 6, susceptibility to;Autosomal dominant popliteal pterygium syndrome;Van der Woude syndrome 1 Supplemental_disease_name DISEASE_NAME:orofacial_cleft_6_susceptibility_to_popliteal_pterygium_syndrome_van_der_woude_syndrome Orofacial cleft 6, susceptibility to;Popliteal pterygium syndrome;Van der Woude syndrome Supplemental_disease_name DISEASE_NAME:orofacial_cleft_6_susceptibility_to_van_der_woude_syndrome_1_autosomal_dominant_popliteal_pterygium_syndrome Orofacial cleft 6, susceptibility to;Van der Woude syndrome 1;Autosomal dominant popliteal pterygium syndrome Supplemental_disease_name DISEASE_NAME:orofacial_cleft_6_susceptibility_to_van_der_woude_syndrome_1_popliteal_pterygium_syndrome Orofacial cleft 6, susceptibility to;Van der Woude syndrome 1;Popliteal pterygium syndrome Supplemental_disease_name DISEASE_NAME:orofacial_cleft_6_susceptibility_to_van_der_woude_syndrome_popliteal_pterygium_syndrome Orofacial cleft 6, susceptibility to;Van der Woude syndrome;Popliteal pterygium syndrome Supplemental_disease_name DISEASE_NAME:orofacial_cleft_tooth_agenesis Orofacial cleft;Tooth agenesis Supplemental_disease_name DISEASE_NAME:orofacial_digital_syndrome_iii Orofacial-digital syndrome III Supplemental_disease_name DISEASE_NAME:orofacial_digital_syndrome_iii_asphyxiating_thoracic_dystrophy_1 Orofacial-digital syndrome III;Asphyxiating thoracic dystrophy 1 Supplemental_disease_name DISEASE_NAME:orofacial_digital_syndrome_iv Orofacial-digital syndrome IV Supplemental_disease_name DISEASE_NAME:orofacial_digital_syndrome_iv_joubert_syndrome_18 Orofacial-digital syndrome IV;Joubert syndrome 18 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_16 Orofaciodigital syndrome 16 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_17 Orofaciodigital syndrome 17 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_18 Orofaciodigital syndrome 18 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_19 Orofaciodigital syndrome 19 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_20 Orofaciodigital syndrome 20 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_21 Orofaciodigital syndrome 21 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_i_joubert_syndrome Orofaciodigital syndrome I;Joubert syndrome Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_i_joubert_syndrome_10_retinitis_pigmentosa_23_simpson_golabi_behmel_syndrome_type_2 Orofaciodigital syndrome I;Joubert syndrome 10;Retinitis pigmentosa 23;Simpson-Golabi-Behmel syndrome type 2 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_i_joubert_syndrome_10_simpson_golabi_behmel_syndrome_type_2 Orofaciodigital syndrome I;Joubert syndrome 10;Simpson-Golabi-Behmel syndrome type 2 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_i_joubert_syndrome_10_simpson_golabi_behmel_syndrome_type_2_retinitis_pigmentosa_23 Orofaciodigital syndrome I;Joubert syndrome 10;Simpson-Golabi-Behmel syndrome type 2;Retinitis pigmentosa 23 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_i_retinitis_pigmentosa_23_joubert_syndrome_10_simpson_golabi_behmel_syndrome_type_2 Orofaciodigital syndrome I;Retinitis pigmentosa 23;Joubert syndrome 10;Simpson-Golabi-Behmel syndrome type 2 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_i_retinitis_pigmentosa_23_simpson_golabi_behmel_syndrome_type_2_joubert_syndrome_10 Orofaciodigital syndrome I;Retinitis pigmentosa 23;Simpson-Golabi-Behmel syndrome type 2;Joubert syndrome 10 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_type_14 Orofaciodigital syndrome type 14 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_type_6 Orofaciodigital syndrome type 6 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_type_6_joubert_syndrome_17 Orofaciodigital syndrome type 6;Joubert syndrome 17 Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_xv Orofaciodigital syndrome XV Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_xv_joubert_syndrome_38_short_rib_thoracic_dysplasia_21_without_polydactyly Orofaciodigital syndrome XV;Joubert syndrome 38;Short-rib thoracic dysplasia 21 without polydactyly Supplemental_disease_name DISEASE_NAME:orofaciodigital_syndrome_xv_short_rib_thoracic_dysplasia_21_without_polydactyly Orofaciodigital syndrome XV;Short-rib thoracic dysplasia 21 without polydactyly Supplemental_disease_name DISEASE_NAME:oroticaciduria Oroticaciduria Supplemental_disease_name DISEASE_NAME:orthostatic_hypotension_1 Orthostatic hypotension 1 Supplemental_disease_name DISEASE_NAME:orthostatic_hypotension_2 Orthostatic hypotension 2 Supplemental_disease_name DISEASE_NAME:osbp_related_disorder OSBP-related disorder Supplemental_disease_name DISEASE_NAME:osbpl2_related_disorder OSBPL2-related disorder Supplemental_disease_name DISEASE_NAME:osbpl5_related_disorder OSBPL5-related disorder Supplemental_disease_name DISEASE_NAME:osgep_related_disorder OSGEP-related disorder Supplemental_disease_name DISEASE_NAME:osmr_related_atopic_disorder OSMR-related Atopic disorder Supplemental_disease_name DISEASE_NAME:osmr_related_disorder OSMR-related disorder Supplemental_disease_name DISEASE_NAME:ossification_of_the_posterior_longitudinal_ligament_of_the_spine Ossification of the posterior longitudinal ligament of the spine Supplemental_disease_name DISEASE_NAME:ossifying_fibroma_of_the_jaw Ossifying fibroma of the jaw Supplemental_disease_name DISEASE_NAME:ostc_related_disorders OSTC-related Disorders Supplemental_disease_name DISEASE_NAME:osteoarthritis_susceptibility_1 Osteoarthritis susceptibility 1 Supplemental_disease_name DISEASE_NAME:osteoarthritis_susceptibility_2 Osteoarthritis susceptibility 2 Supplemental_disease_name DISEASE_NAME:osteoarthritis_susceptibility_2_spondyloepimetaphyseal_dysplasia_matrilin_3_type_multiple_epiphyseal_dysplasia_type_5 Osteoarthritis susceptibility 2;Spondyloepimetaphyseal dysplasia, matrilin-3 type;Multiple epiphyseal dysplasia type 5 Supplemental_disease_name DISEASE_NAME:osteoarthritis_susceptibility_3 Osteoarthritis susceptibility 3 Supplemental_disease_name DISEASE_NAME:osteoarthritis_susceptibility_5 Osteoarthritis susceptibility 5 Supplemental_disease_name DISEASE_NAME:osteoblastic_osteosarcoma Osteoblastic osteosarcoma Supplemental_disease_name DISEASE_NAME:osteochondrodysplasia_brachydactyly_and_overlapping_malformed_digits Osteochondrodysplasia, brachydactyly, and overlapping malformed digits Supplemental_disease_name DISEASE_NAME:osteocraniostenosis Osteocraniostenosis Supplemental_disease_name DISEASE_NAME:osteocraniostenosis_autosomal_dominant_kenny_caffey_syndrome Osteocraniostenosis;Autosomal dominant Kenny-Caffey syndrome Supplemental_disease_name DISEASE_NAME:osteodysplastic_primordial_dwarfism_type_1 Osteodysplastic primordial dwarfism, type 1 Supplemental_disease_name DISEASE_NAME:osteodysplastic_primordial_dwarfism_type_1_lowry_wood_syndrome Osteodysplastic primordial dwarfism, type 1;Lowry-Wood syndrome Supplemental_disease_name DISEASE_NAME:osteodysplastic_primordial_dwarfism_type_1_lowry_wood_syndrome_roifman_syndrome Osteodysplastic primordial dwarfism, type 1;Lowry-Wood syndrome;Roifman syndrome Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia Osteofibrous dysplasia Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_arthrogryposis_distal_iia_11_autosomal_recessive_nonsyndromic_hearing_loss_97_hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1 Osteofibrous dysplasia;Arthrogryposis, distal, IIa 11;Autosomal recessive nonsyndromic hearing loss 97;Hepatocellular carcinoma;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_arthrogryposis_distal_iia_11_autosomal_recessive_nonsyndromic_hearing_loss_97_papillary_renal_cell_carcinoma_type_1_hepatocellular_carcinoma Osteofibrous dysplasia;Arthrogryposis, distal, IIa 11;Autosomal recessive nonsyndromic hearing loss 97;Papillary renal cell carcinoma type 1;Hepatocellular carcinoma Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_arthrogryposis_distal_iia_11_hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1_autosomal_recessive_nonsyndromic_hearing_loss_97 Osteofibrous dysplasia;Arthrogryposis, distal, IIa 11;Hepatocellular carcinoma;Papillary renal cell carcinoma type 1;Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_arthrogryposis_distal_iia_11_papillary_renal_cell_carcinoma_type_1_hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97 Osteofibrous dysplasia;Arthrogryposis, distal, IIa 11;Papillary renal cell carcinoma type 1;Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_autosomal_recessive_nonsyndromic_hearing_loss_97_arthrogryposis_distal_iia_11_hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1 Osteofibrous dysplasia;Autosomal recessive nonsyndromic hearing loss 97;Arthrogryposis, distal, IIa 11;Hepatocellular carcinoma;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97_arthrogryposis_distal_iia_11_papillary_renal_cell_carcinoma_type_1 Osteofibrous dysplasia;Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97;Arthrogryposis, distal, IIa 11;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97_papillary_renal_cell_carcinoma_type_1 Osteofibrous dysplasia;Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97;Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1_arthrogryposis_distal_iia_11_autosomal_recessive_nonsyndromic_hearing_loss_97 Osteofibrous dysplasia;Hepatocellular carcinoma;Papillary renal cell carcinoma type 1;Arthrogryposis, distal, IIa 11;Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1_autosomal_recessive_nonsyndromic_hearing_loss_97 Osteofibrous dysplasia;Hepatocellular carcinoma;Papillary renal cell carcinoma type 1;Autosomal recessive nonsyndromic hearing loss 97 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_hepatocellular_carcinoma_papillary_renal_cell_carcinoma_type_1_autosomal_recessive_nonsyndromic_hearing_loss_97_arthrogryposis_distal_iia_11 Osteofibrous dysplasia;Hepatocellular carcinoma;Papillary renal cell carcinoma type 1;Autosomal recessive nonsyndromic hearing loss 97;Arthrogryposis, distal, IIa 11 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1_autosomal_recessive_nonsyndromic_hearing_loss_97_hepatocellular_carcinoma_arthrogryposis_distal_iia_11 Osteofibrous dysplasia;Papillary renal cell carcinoma type 1;Autosomal recessive nonsyndromic hearing loss 97;Hepatocellular carcinoma;Arthrogryposis, distal, IIa 11 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia_papillary_renal_cell_carcinoma_type_1_hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97_arthrogryposis_distal_iia_11 Osteofibrous dysplasia;Papillary renal cell carcinoma type 1;Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97;Arthrogryposis, distal, IIa 11 Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_ehlers_danlos_syndrome Osteogenesis imperfecta;Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_ehlers_danlos_syndrome_arthrochalasia_type_2_infantile_cortical_hyperostosis Osteogenesis imperfecta;Ehlers-Danlos syndrome, arthrochalasia type, 2;Infantile cortical hyperostosis Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_ehlers_danlos_syndrome_arthrochalasia_type_infantile_cortical_hyperostosis Osteogenesis imperfecta;Ehlers-Danlos syndrome, arthrochalasia type;Infantile cortical hyperostosis Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_iia_22 Osteogenesis imperfecta, IIA 22 Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_infantile_cortical_hyperostosis_ehlers_danlos_syndrome_arthrochalasia_type_2_ehlers_danlos_syndrome_arthrochalasia_type Osteogenesis imperfecta;Infantile cortical hyperostosis;Ehlers-Danlos syndrome, arthrochalasia type, 2;Ehlers-Danlos syndrome, arthrochalasia type Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_mild Osteogenesis imperfecta, mild Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_perinatal_lethal Osteogenesis imperfecta, perinatal lethal Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_perinatal_lethal_ehlers_danlos_syndrome_cardiac_valvular_type_combined_osteogenesis_imperfecta_and_ehlers_danlos_syndrome_2_ehlers_danlos_syndrome_arthrochalasia_type_2_osteogenesis_imperfecta_with_normal_sclerae_dominant_form Osteogenesis imperfecta, perinatal lethal;Ehlers-Danlos syndrome, cardiac valvular type;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2;Ehlers-Danlos syndrome, arthrochalasia type, 2;Osteogenesis imperfecta with normal sclerae, dominant form Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii_osteogenesis_imperfecta_type_i_osteogenesis_imperfecta_with_normal_sclerae_dominant_form Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III;Osteogenesis imperfecta type I;Osteogenesis imperfecta with normal sclerae, dominant form Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii_osteogenesis_imperfecta_with_normal_sclerae_dominant_form Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III;Osteogenesis imperfecta with normal sclerae, dominant form Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_with_normal_sclerae_dominant_form_osteogenesis_imperfecta_type_iii_osteogenesis_imperfecta_type_i Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta type III;Osteogenesis imperfecta type I Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_recessive Osteogenesis Imperfecta, Recessive Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_10_preterm_premature_rupture_of_membranes Osteogenesis imperfecta type 10;Preterm premature rupture of membranes Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_11_bruck_syndrome_1 Osteogenesis imperfecta type 11;Bruck syndrome 1 Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_15_osteoporosis_early_onset_susceptibility_to Osteogenesis imperfecta type 15;OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_1_mild Osteogenesis imperfecta type 1, mild Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_23 Osteogenesis imperfecta, type 23 Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_2_thin_bone Osteogenesis imperfecta type 2, thin-bone Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_i_ehlers_danlos_syndrome_arthrochalasia_type_2_ehlers_danlos_syndrome_cardiac_valvular_type Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, arthrochalasia type, 2;Ehlers-Danlos syndrome, cardiac valvular type Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_i_ehlers_danlos_syndrome_cardiac_valvular_type_ehlers_danlos_syndrome_arthrochalasia_type Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, cardiac valvular type;Ehlers-Danlos syndrome, arthrochalasia type Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_i_ehlers_danlos_syndrome_classic_type Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, classic type Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_i_ehlers_danlos_syndrome_classic_type_1 Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, classic type, 1 Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_i_osteogenesis_imperfecta_type_iii_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_with_normal_sclerae_dominant_form Osteogenesis imperfecta type I;Osteogenesis imperfecta type III;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta with normal sclerae, dominant form Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_i_osteogenesis_imperfecta_with_normal_sclerae_dominant_form_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii Osteogenesis imperfecta type I;Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_iic OSTEOGENESIS IMPERFECTA, TYPE IIC Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_iii_iv Osteogenesis imperfecta, type III/IV Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_iii_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_with_normal_sclerae_dominant_form Osteogenesis imperfecta type III;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta with normal sclerae, dominant form Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_type_iii_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_with_normal_sclerae_dominant_form_osteogenesis_imperfecta_type_i Osteogenesis imperfecta type III;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta type I Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_with_normal_sclerae_dominant_form Osteogenesis imperfecta with normal sclerae, dominant form Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_with_normal_sclerae_dominant_form_ehlers_danlos_syndrome_arthrochalasia_type_2_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii_combined_osteogenesis_imperfecta_and_ehlers_danlos_syndrome_2 Osteogenesis imperfecta with normal sclerae, dominant form;Ehlers-Danlos syndrome, arthrochalasia type, 2;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_with_normal_sclerae_dominant_form_ehlers_danlos_syndrome_arthrochalasia_type_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii_osteogenesis_imperfecta_type_i Osteogenesis imperfecta with normal sclerae, dominant form;Ehlers-Danlos syndrome, arthrochalasia type;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III;Osteogenesis imperfecta type I Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_with_normal_sclerae_dominant_form_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_with_normal_sclerae_dominant_form_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii_osteogenesis_imperfecta_type_i Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III;Osteogenesis imperfecta type I Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_with_normal_sclerae_dominant_form_osteogenesis_imperfecta_type_i_osteogenesis_imperfecta_perinatal_lethal_osteogenesis_imperfecta_type_iii Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta type I;Osteogenesis imperfecta, perinatal lethal;Osteogenesis imperfecta type III Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_with_normal_sclerae_dominant_form_osteogenesis_imperfecta_type_i_osteogenesis_imperfecta_type_iii Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta type I;Osteogenesis imperfecta type III Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_with_normal_sclerae_dominant_form_osteogenesis_imperfecta_type_iii Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta type III Supplemental_disease_name DISEASE_NAME:osteogenic_sarcoma_osteosarcoma Osteogenic sarcoma/osteosarcoma Supplemental_disease_name DISEASE_NAME:osteootohepatoenteric_syndrome Osteootohepatoenteric syndrome Supplemental_disease_name DISEASE_NAME:osteopenia_blue_sclerae_increased_susceptibility_to_fractures Osteopenia;Blue sclerae;Increased susceptibility to fractures Supplemental_disease_name DISEASE_NAME:osteopetrosis_autosomal_dominant_3 Osteopetrosis, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:osteopetrosis_autosomal_dominant_3_autosomal_recessive_osteopetrosis_6 Osteopetrosis, autosomal dominant 3;Autosomal recessive osteopetrosis 6 Supplemental_disease_name DISEASE_NAME:osteopetrosis_autosomal_dominant_4 Osteopetrosis, autosomal dominant 4 Supplemental_disease_name DISEASE_NAME:osteopetrosis_autosomal_recessive_9 Osteopetrosis, autosomal recessive 9 Supplemental_disease_name DISEASE_NAME:osteopoikilosis_with_or_without_melorheostosis OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS Supplemental_disease_name DISEASE_NAME:osteoporosis_childhood_or_juvenile_onset_with_developmental_delay Osteoporosis, childhood- or juvenile-onset, with developmental delay Supplemental_disease_name DISEASE_NAME:osteoporosis_early_onset_susceptibility_to OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:osteoporosis_early_onset_susceptibility_to_osteogenesis_imperfecta_type_15 OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO;Osteogenesis imperfecta type 15 Supplemental_disease_name DISEASE_NAME:osteoporosis_mildly_elevated_creatine_kinase_limb_pain_myotonia Osteoporosis;Mildly elevated creatine kinase;Limb pain;Myotonia Supplemental_disease_name DISEASE_NAME:osteoporosis_primary_myelofibrosis_thrombocytopenia Osteoporosis;Primary myelofibrosis;Thrombocytopenia Supplemental_disease_name DISEASE_NAME:osteoporosis_susceptibility_to Osteoporosis, susceptibility to Supplemental_disease_name DISEASE_NAME:osteoporosis_with_pseudoglioma Osteoporosis with pseudoglioma Supplemental_disease_name DISEASE_NAME:osteoporosis_with_pseudoglioma_autosomal_dominant_polycystic_liver_disease_exudative_vitreoretinopathy_4_autosomal_dominant_osteopetrosis_1 Osteoporosis with pseudoglioma;Autosomal dominant polycystic liver disease;Exudative vitreoretinopathy 4;Autosomal dominant osteopetrosis 1 Supplemental_disease_name DISEASE_NAME:ostm1_related_disorder OSTM1-related disorder Supplemental_disease_name DISEASE_NAME:otc_related_disorder OTC-related disorder Supplemental_disease_name DISEASE_NAME:other_disease Other disease Supplemental_disease_name DISEASE_NAME:other_rare_neuromuscular_disorders Other rare neuromuscular disorders Supplemental_disease_name DISEASE_NAME:otitis_media_susceptibility_to Otitis media, susceptibility to Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_i Oto-palato-digital syndrome, type I Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_i_heterotopia_periventricular_x_linked_dominant_oto_palato_digital_syndrome_type_ii_melnick_needles_syndrome Oto-palato-digital syndrome, type I;Heterotopia, periventricular, X-linked dominant;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_i_oto_palato_digital_syndrome_type_ii Oto-palato-digital syndrome, type I;Oto-palato-digital syndrome, type II Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_i_oto_palato_digital_syndrome_type_ii_melnick_needles_syndrome Oto-palato-digital syndrome, type I;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_ii Oto-palato-digital syndrome, type II Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_ii_frontometaphyseal_dysplasia_heterotopia_periventricular_x_linked_dominant_melnick_needles_syndrome Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_ii_frontometaphyseal_dysplasia_melnick_needles_syndrome_heterotopia_periventricular_x_linked_dominant Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;Melnick-Needles syndrome;Heterotopia, periventricular, X-linked dominant Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_ii_heterotopia_periventricular_x_linked_dominant_frontometaphyseal_dysplasia_melnick_needles_syndrome Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia;Melnick-Needles syndrome Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_ii_heterotopia_periventricular_x_linked_dominant_melnick_needles_syndrome_frontometaphyseal_dysplasia Oto-palato-digital syndrome, type II;Heterotopia, periventricular, X-linked dominant;Melnick-Needles syndrome;Frontometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_ii_melnick_needles_syndrome_frontometaphyseal_dysplasia_heterotopia_periventricular_x_linked_dominant Oto-palato-digital syndrome, type II;Melnick-Needles syndrome;Frontometaphyseal dysplasia;Heterotopia, periventricular, X-linked dominant Supplemental_disease_name DISEASE_NAME:oto_palato_digital_syndrome_type_ii_melnick_needles_syndrome_heterotopia_periventricular_x_linked_dominant_frontometaphyseal_dysplasia Oto-palato-digital syndrome, type II;Melnick-Needles syndrome;Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:otoa_related_disorder OTOA-related disorder Supplemental_disease_name DISEASE_NAME:otof_related_disorder OTOF-related disorder Supplemental_disease_name DISEASE_NAME:otofacial_neurodevelopmental_syndrome Otofacial neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:otofaciocervical_syndrome_1 Otofaciocervical syndrome 1 Supplemental_disease_name DISEASE_NAME:otofaciocervical_syndrome_1_branchiootic_syndrome_1_branchiootorenal_syndrome_1 Otofaciocervical syndrome 1;Branchiootic syndrome 1;Branchiootorenal syndrome 1 Supplemental_disease_name DISEASE_NAME:otofaciocervical_syndrome_1_branchiootorenal_syndrome_1_branchiootic_syndrome_1 Otofaciocervical syndrome 1;Branchiootorenal syndrome 1;Branchiootic syndrome 1 Supplemental_disease_name DISEASE_NAME:otofaciocervical_syndrome_2 Otofaciocervical syndrome 2 Supplemental_disease_name DISEASE_NAME:otog_related_disorder OTOG-related disorder Supplemental_disease_name DISEASE_NAME:otogl_related_disorder OTOGL-related disorder Supplemental_disease_name DISEASE_NAME:otopalatodigital_spectrum_disorders_cardiac_valvular_dysplasia_x_linked_heterotopia_periventricular_x_linked_dominant Otopalatodigital Spectrum Disorders;Cardiac valvular dysplasia, X-linked;Heterotopia, periventricular, X-linked dominant Supplemental_disease_name DISEASE_NAME:otopalatodigital_syndrome Otopalatodigital syndrome Supplemental_disease_name DISEASE_NAME:otor_related_disorder OTOR-related disorder Supplemental_disease_name DISEASE_NAME:otosclerosis_12 Otosclerosis 12 Supplemental_disease_name DISEASE_NAME:otosclerosis_12_intellectual_disability_autosomal_dominant_16_rhabdoid_tumor_predisposition_syndrome_2 Otosclerosis 12;Intellectual disability, autosomal dominant 16;Rhabdoid tumor predisposition syndrome 2 Supplemental_disease_name DISEASE_NAME:otosclerosis_12_rhabdoid_tumor_predisposition_syndrome_2_intellectual_disability_autosomal_dominant_16 Otosclerosis 12;Rhabdoid tumor predisposition syndrome 2;Intellectual disability, autosomal dominant 16 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_fibrochondrogenesis_2_autosomal_recessive_nonsyndromic_hearing_loss_53 Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Fibrochondrogenesis 2;Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_recessive_nonsyndromic_hearing_loss_53_fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_dominant_nonsyndromic_hearing_loss_13 Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal recessive nonsyndromic hearing loss 53;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal dominant nonsyndromic hearing loss 13 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_dominant_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_dominant_nonsyndromic_hearing_loss_13_fibrochondrogenesis_2_autosomal_recessive_nonsyndromic_hearing_loss_53 Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal dominant nonsyndromic hearing loss 13;Fibrochondrogenesis 2;Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_dominant_otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_recessive_nonsyndromic_hearing_loss_53_autosomal_dominant_nonsyndromic_hearing_loss_13_fibrochondrogenesis_2 Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal recessive nonsyndromic hearing loss 53;Autosomal dominant nonsyndromic hearing loss 13;Fibrochondrogenesis 2 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_recessive_nonsyndromic_hearing_loss_53_autosomal_dominant_nonsyndromic_hearing_loss_13_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_fibrochondrogenesis_2 Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal recessive nonsyndromic hearing loss 53;Autosomal dominant nonsyndromic hearing loss 13;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Fibrochondrogenesis 2 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_recessive_nonsyndromic_hearing_loss_53_fibrochondrogenesis_2 Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal recessive nonsyndromic hearing loss 53;Fibrochondrogenesis 2 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_recessive_nonsyndromic_hearing_loss_53_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_dominant_nonsyndromic_hearing_loss_13_fibrochondrogenesis_2 Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal recessive nonsyndromic hearing loss 53;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal dominant nonsyndromic hearing loss 13;Fibrochondrogenesis 2 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_recessive_autosomal_recessive_nonsyndromic_hearing_loss_53_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_fibrochondrogenesis_2_autosomal_dominant_nonsyndromic_hearing_loss_13 Otospondylomegaepiphyseal dysplasia, autosomal recessive;Autosomal recessive nonsyndromic hearing loss 53;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Fibrochondrogenesis 2;Autosomal dominant nonsyndromic hearing loss 13 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_recessive_fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_recessive_fibrochondrogenesis_2_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_dominant_nonsyndromic_hearing_loss_13_autosomal_recessive_nonsyndromic_hearing_loss_53 Otospondylomegaepiphyseal dysplasia, autosomal recessive;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal dominant nonsyndromic hearing loss 13;Autosomal recessive nonsyndromic hearing loss 53 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_recessive_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_autosomal_recessive_nonsyndromic_hearing_loss_53_autosomal_dominant_nonsyndromic_hearing_loss_13_fibrochondrogenesis_2 Otospondylomegaepiphyseal dysplasia, autosomal recessive;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Autosomal recessive nonsyndromic hearing loss 53;Autosomal dominant nonsyndromic hearing loss 13;Fibrochondrogenesis 2 Supplemental_disease_name DISEASE_NAME:otospondylomegaepiphyseal_dysplasia_autosomal_recessive_otospondylomegaepiphyseal_dysplasia_autosomal_dominant_fibrochondrogenesis_2_autosomal_recessive_nonsyndromic_hearing_loss_53_autosomal_dominant_nonsyndromic_hearing_loss_13 Otospondylomegaepiphyseal dysplasia, autosomal recessive;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Fibrochondrogenesis 2;Autosomal recessive nonsyndromic hearing loss 53;Autosomal dominant nonsyndromic hearing loss 13 Supplemental_disease_name DISEASE_NAME:otud1_related_disorder OTUD1-related disorder Supplemental_disease_name DISEASE_NAME:otud4_related_disorder OTUD4-related disorder Supplemental_disease_name DISEASE_NAME:otud5_related_disorder OTUD5-related disorder Supplemental_disease_name DISEASE_NAME:otud6b_related_disorder OTUD6B-related disorder Supplemental_disease_name DISEASE_NAME:otud7a_related_disorder OTUD7A-related disorder Supplemental_disease_name DISEASE_NAME:otulin_related_disorder OTULIN-related disorder Supplemental_disease_name DISEASE_NAME:otx1_related_disorder OTX1-related disorder Supplemental_disease_name DISEASE_NAME:otx2_related_disorder OTX2-related disorder Supplemental_disease_name DISEASE_NAME:otx2_related_syndromic_microphthalmia OTX2-Related Syndromic Microphthalmia Supplemental_disease_name DISEASE_NAME:ovarian_cancer_autosomal_recessive_juvenile_parkinson_disease_2_lung_cancer Ovarian cancer;Autosomal recessive juvenile Parkinson disease 2;Lung cancer Supplemental_disease_name DISEASE_NAME:ovarian_cancer_carcinoma Ovarian cancer/carcinoma Supplemental_disease_name DISEASE_NAME:ovarian_cancer_epithelial_somatic OVARIAN CANCER, EPITHELIAL, SOMATIC Supplemental_disease_name DISEASE_NAME:ovarian_cancer_familial_cancer_of_breast Ovarian cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:ovarian_cancer_fanconi_anemia_complementation_group_j Ovarian cancer;Fanconi anemia complementation group J Supplemental_disease_name DISEASE_NAME:ovarian_cancer_hereditary_diffuse_gastric_adenocarcinoma_familial_cancer_of_breast_blepharocheilodontic_syndrome_1_endometrial_carcinoma Ovarian cancer;Hereditary diffuse gastric adenocarcinoma;Familial cancer of breast;Blepharocheilodontic syndrome 1;Endometrial carcinoma Supplemental_disease_name DISEASE_NAME:ovarian_cancer_lung_cancer_autosomal_recessive_juvenile_parkinson_disease_2 Ovarian cancer;Lung cancer;Autosomal recessive juvenile Parkinson disease 2 Supplemental_disease_name DISEASE_NAME:ovarian_cancer_susceptibility_to_1 Ovarian cancer, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:ovarian_cancer_susceptibility_to_1_ataxia_telangiectasia_syndrome_breast_cancer_susceptibility_to_prostate_cancer_susceptibility_pancreatic_cancer_susceptibility_4 Ovarian cancer, susceptibility to, 1;Ataxia-telangiectasia syndrome;Breast cancer, susceptibility to;Prostate cancer susceptibility;Pancreatic Cancer Susceptibility 4 Supplemental_disease_name DISEASE_NAME:ovarian_cancers Ovarian Cancers Supplemental_disease_name DISEASE_NAME:ovarian_dysgenesis_11 Ovarian dysgenesis 11 Supplemental_disease_name DISEASE_NAME:ovarian_dysgenesis_1_ovarian_hyperstimulation_syndrome Ovarian dysgenesis 1;Ovarian hyperstimulation syndrome Supplemental_disease_name DISEASE_NAME:ovarian_dysgenesis_5_spermatogenic_failure_32 Ovarian dysgenesis 5;Spermatogenic failure 32 Supplemental_disease_name DISEASE_NAME:ovarian_dysgenesis_6_galloway_mowat_syndrome_7_analbuminemia Ovarian dysgenesis 6;Galloway-Mowat syndrome 7;Analbuminemia Supplemental_disease_name DISEASE_NAME:ovarian_endometrioid_cancer ovarian endometrioid cancer Supplemental_disease_name DISEASE_NAME:ovarian_epithelial_carcinoma Ovarian epithelial carcinoma Supplemental_disease_name DISEASE_NAME:ovarian_granulosa_cell_tumor Ovarian granulosa cell tumor Supplemental_disease_name DISEASE_NAME:ovarian_granulosa_cell_tumour Ovarian granulosa cell tumour Supplemental_disease_name DISEASE_NAME:ovarian_gynandroblastoma Ovarian gynandroblastoma Supplemental_disease_name DISEASE_NAME:ovarian_hyperstimulation_syndrome_dizygotic_twins_ovarian_dysgenesis_1 Ovarian hyperstimulation syndrome;Dizygotic twins;Ovarian dysgenesis 1 Supplemental_disease_name DISEASE_NAME:ovarian_hyperstimulation_syndrome_ovarian_dysgenesis_1 Ovarian hyperstimulation syndrome;Ovarian dysgenesis 1 Supplemental_disease_name DISEASE_NAME:ovarian_mucinous_carcinoma Ovarian mucinous carcinoma Supplemental_disease_name DISEASE_NAME:ovarian_neoplasm_lung_cancer_familial_cancer_of_breast Ovarian neoplasm;Lung cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:ovarian_neoplasm_melanoma Ovarian neoplasm;Melanoma Supplemental_disease_name DISEASE_NAME:ovarian_neoplasm_thyroid_cancer_nonmedullary_1_classic_hodgkin_lymphoma_familial_cancer_of_breast Ovarian neoplasm;Thyroid cancer, nonmedullary, 1;Classic Hodgkin lymphoma;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:ovarian_neoplasms Ovarian neoplasms Supplemental_disease_name DISEASE_NAME:ovarian_serous_surface_papillary_adenocarcinoma Ovarian serous surface papillary adenocarcinoma Supplemental_disease_name DISEASE_NAME:ovarian_sertoli_leydig_cell_tumor Ovarian Sertoli-Leydig cell tumor Supplemental_disease_name DISEASE_NAME:overgrowth Overgrowth Supplemental_disease_name DISEASE_NAME:overgrowth_hemimegalencephaly_facial_asymmetry Overgrowth;Hemimegalencephaly;Facial asymmetry Supplemental_disease_name DISEASE_NAME:overgrowth_precocious_puberty_postaxial_polydactyly_macrocephaly Overgrowth;Precocious puberty;Postaxial polydactyly;Macrocephaly Supplemental_disease_name DISEASE_NAME:overgrowth_syndrome Overgrowth syndrome Supplemental_disease_name DISEASE_NAME:overgrowth_syndrome_and_or_cerebral_malformations Overgrowth syndrome and/or cerebral malformations Supplemental_disease_name DISEASE_NAME:overgrowth_syndrome_and_or_cerebral_malformations_due_to_abnormalities_in_mtor_pathway_genes Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Supplemental_disease_name DISEASE_NAME:overhydrated_hereditary_stomatocytosis_rh_null_regulator_type Overhydrated hereditary stomatocytosis;Rh-null, regulator type Supplemental_disease_name DISEASE_NAME:ovol2_related_disorder OVOL2-related disorder Supplemental_disease_name DISEASE_NAME:oxa1l_related_disorder OXA1L-related disorder Supplemental_disease_name DISEASE_NAME:oxct1_related_disorder OXCT1-related disorder Supplemental_disease_name DISEASE_NAME:oxoglutaricaciduria Oxoglutaricaciduria Supplemental_disease_name DISEASE_NAME:oxr1_related_disorder OXR1-related disorder Supplemental_disease_name DISEASE_NAME:oxtr_related_disorder OXTR-related disorder Supplemental_disease_name DISEASE_NAME:oxycephaly_intellectual_disability Oxycephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:p2rx1_related_disorder P2RX1-related disorder Supplemental_disease_name DISEASE_NAME:p2rx2_related_disorder P2RX2-related disorder Supplemental_disease_name DISEASE_NAME:p2rx5_related_disorder P2RX5-related disorder Supplemental_disease_name DISEASE_NAME:p2rx7_related_disorder P2RX7-related disorder Supplemental_disease_name DISEASE_NAME:p2ry11_related_disorder P2RY11-related disorder Supplemental_disease_name DISEASE_NAME:p2ry12_related_disorder P2RY12-related disorder Supplemental_disease_name DISEASE_NAME:p3h1_related_disorder P3H1-related disorder Supplemental_disease_name DISEASE_NAME:p3h2_related_disorder P3H2-related disorder Supplemental_disease_name DISEASE_NAME:p4ha1_related_disorder P4HA1-related disorder Supplemental_disease_name DISEASE_NAME:p4ha2_related_disorder P4HA2-related disorder Supplemental_disease_name DISEASE_NAME:p4hb_related_disorder P4HB-related disorder Supplemental_disease_name DISEASE_NAME:p4htm_related_disorder P4HTM-related disorder Supplemental_disease_name DISEASE_NAME:p5cs_deficiency P5CS deficiency Supplemental_disease_name DISEASE_NAME:p5n_deficiency P5N deficiency Supplemental_disease_name DISEASE_NAME:p_phenotype p phenotype Supplemental_disease_name DISEASE_NAME:pabpc1_related_condition PABPC1-related condition Supplemental_disease_name DISEASE_NAME:pabpn1_related_disorder PABPN1-related disorder Supplemental_disease_name DISEASE_NAME:pachygyria_intellectual_disability_epilepsy_syndrome Pachygyria-intellectual disability-epilepsy syndrome Supplemental_disease_name DISEASE_NAME:pachyonychia_congenita_1 Pachyonychia congenita 1 Supplemental_disease_name DISEASE_NAME:pachyonychia_congenita_1_palmoplantar_keratoderma_nonepidermolytic_focal_1 Pachyonychia congenita 1;Palmoplantar keratoderma, nonepidermolytic, focal 1 Supplemental_disease_name DISEASE_NAME:pachyonychia_congenita_2 Pachyonychia congenita 2 Supplemental_disease_name DISEASE_NAME:pachyonychia_congenita_2_steatocystoma_multiplex Pachyonychia congenita 2;Steatocystoma multiplex Supplemental_disease_name DISEASE_NAME:pachyonychia_congenita_3 Pachyonychia congenita 3 Supplemental_disease_name DISEASE_NAME:pachyonychia_congenita_4 Pachyonychia congenita 4 Supplemental_disease_name DISEASE_NAME:pacs1_related_disorder PACS1-related disorder Supplemental_disease_name DISEASE_NAME:pacs1_related_syndrome PACS1-related syndrome Supplemental_disease_name DISEASE_NAME:pacs2_related_disorder PACS2-related disorder Supplemental_disease_name DISEASE_NAME:padi3_related_disorder PADI3-related disorder Supplemental_disease_name DISEASE_NAME:padi4_related_disorder PADI4-related disorder Supplemental_disease_name DISEASE_NAME:padi6_related_disorder PADI6-related disorder Supplemental_disease_name DISEASE_NAME:paediatric_disorders Paediatric disorders Supplemental_disease_name DISEASE_NAME:paediatric_or_syndromic_cardiomyopathy Paediatric or syndromic cardiomyopathy Supplemental_disease_name DISEASE_NAME:pafah1b1_related_disorder PAFAH1B1-related disorder Supplemental_disease_name DISEASE_NAME:paget_disease_of_bone_2_early_onset Paget disease of bone 2, early-onset Supplemental_disease_name DISEASE_NAME:paget_disease_of_bone_2_early_onset_familial_expansile_osteolysis Paget disease of bone 2, early-onset;Familial expansile osteolysis Supplemental_disease_name DISEASE_NAME:paget_disease_of_bone_2_early_onset_familial_expansile_osteolysis_autosomal_recessive_osteopetrosis_7 Paget disease of bone 2, early-onset;Familial expansile osteolysis;Autosomal recessive osteopetrosis 7 Supplemental_disease_name DISEASE_NAME:paget_disease_of_bone_2_early_onset_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_1 Paget disease of bone 2, early-onset;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Supplemental_disease_name DISEASE_NAME:paget_disease_of_bone_3_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_3_myopathy_distal_with_rimmed_vacuoles Paget disease of bone 3;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Myopathy, distal, with rimmed vacuoles Supplemental_disease_name DISEASE_NAME:paget_disease_of_bone_3_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_3_neurodegeneration_with_ataxia_dystonia_and_gaze_palsy_childhood_onset_myopathy_distal_with_rimmed_vacuoles Paget disease of bone 3;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;Myopathy, distal, with rimmed vacuoles Supplemental_disease_name DISEASE_NAME:paget_disease_of_bone_7_early_onset PAGET DISEASE OF BONE 7, EARLY-ONSET Supplemental_disease_name DISEASE_NAME:pah_related_disorder PAH-related disorder Supplemental_disease_name DISEASE_NAME:pain_emg_myotonic_discharges_limb_pain_distal_sensory_impairment_muscle_weakness Pain;EMG: myotonic discharges;Limb pain;Distal sensory impairment;Muscle weakness Supplemental_disease_name DISEASE_NAME:pain_insensitivity Pain insensitivity Supplemental_disease_name DISEASE_NAME:pain_sensitivity_quantitative_trait_locus_1 PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:pak1_related_disorder PAK1-related disorder Supplemental_disease_name DISEASE_NAME:pak1_related_neurodevelopmental_disorders PAK1-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:pak2_related_disorder PAK2-related disorder Supplemental_disease_name DISEASE_NAME:pak3_related_disorder PAK3-related disorder Supplemental_disease_name DISEASE_NAME:palatal_anomalies_widely_spaced_teeth_facial_dysmorphism_developmental_delay_syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:palate_telangiectasia_telangiectasia_of_the_skin_oral_cavity_telangiectasia_pulmonary_arteriovenous_malformation_spontaneous_recurrent_epistaxis Palate telangiectasia;Telangiectasia of the skin;Oral cavity telangiectasia;Pulmonary arteriovenous malformation;Spontaneous, recurrent epistaxis Supplemental_disease_name DISEASE_NAME:palb2_related_cancer_predisposition PALB2-related cancer predisposition Supplemental_disease_name DISEASE_NAME:palb2_related_disorder PALB2-related disorder Supplemental_disease_name DISEASE_NAME:palld_related_disorder PALLD-related disorder Supplemental_disease_name DISEASE_NAME:pallister_hall_syndrome_greig_cephalopolysyndactyly_syndrome Pallister-Hall syndrome;Greig cephalopolysyndactyly syndrome Supplemental_disease_name DISEASE_NAME:pallister_hall_syndrome_greig_cephalopolysyndactyly_syndrome_polydactyly_postaxial_type_a1_polysyndactyly_4 Pallister-Hall syndrome;Greig cephalopolysyndactyly syndrome;Polydactyly, postaxial, type A1;Polysyndactyly 4 Supplemental_disease_name DISEASE_NAME:pallister_hall_syndrome_greig_cephalopolysyndactyly_syndrome_polysyndactyly_4_polydactyly_postaxial_type_a1 Pallister-Hall syndrome;Greig cephalopolysyndactyly syndrome;Polysyndactyly 4;Polydactyly, postaxial, type A1 Supplemental_disease_name DISEASE_NAME:pallister_hall_syndrome_polydactyly_postaxial_type_a1_greig_cephalopolysyndactyly_syndrome_polysyndactyly_4 Pallister-Hall syndrome;Polydactyly, postaxial, type A1;Greig cephalopolysyndactyly syndrome;Polysyndactyly 4 Supplemental_disease_name DISEASE_NAME:pallister_hall_syndrome_polydactyly_postaxial_type_a1_polysyndactyly_4_greig_cephalopolysyndactyly_syndrome Pallister-Hall syndrome;Polydactyly, postaxial, type A1;Polysyndactyly 4;Greig cephalopolysyndactyly syndrome Supplemental_disease_name DISEASE_NAME:pallister_hall_syndrome_polysyndactyly_4_greig_cephalopolysyndactyly_syndrome_polydactyly_postaxial_type_a1 Pallister-Hall syndrome;Polysyndactyly 4;Greig cephalopolysyndactyly syndrome;Polydactyly, postaxial, type A1 Supplemental_disease_name DISEASE_NAME:pallister_hall_syndrome_polysyndactyly_4_polydactyly_postaxial_type_a1_greig_cephalopolysyndactyly_syndrome Pallister-Hall syndrome;Polysyndactyly 4;Polydactyly, postaxial, type A1;Greig cephalopolysyndactyly syndrome Supplemental_disease_name DISEASE_NAME:pallister_killian_syndrome Pallister-Killian syndrome Supplemental_disease_name DISEASE_NAME:palmoplantar_blistering_skin_fragility_with_non_scarring_blistering Palmoplantar blistering;Skin fragility with non-scarring blistering Supplemental_disease_name DISEASE_NAME:palmoplantar_hyperkeratosis_and_true_hermaphroditism Palmoplantar hyperkeratosis and true hermaphroditism Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_bothnian_type Palmoplantar keratoderma, Bothnian type Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_deafness_syndrome_knuckle_pads_deafness_and_leukonychia_syndrome_mutilating_keratoderma Palmoplantar keratoderma-deafness syndrome;Knuckle pads, deafness AND leukonychia syndrome;Mutilating keratoderma Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_deafness_syndrome_mutilating_keratoderma_knuckle_pads_deafness_and_leukonychia_syndrome Palmoplantar keratoderma-deafness syndrome;Mutilating keratoderma;Knuckle pads, deafness AND leukonychia syndrome Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_epidermolytic Palmoplantar keratoderma, epidermolytic Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_epidermolytic_2 Palmoplantar keratoderma, epidermolytic, 2 Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_i_striate_focal_or_diffuse Palmoplantar keratoderma i, striate, focal, or diffuse Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_i_striate_focal_or_diffuse_severe_dermatitis_multiple_allergies_metabolic_wasting_syndrome Palmoplantar keratoderma i, striate, focal, or diffuse;Severe dermatitis-multiple allergies-metabolic wasting syndrome Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_nonepidermolytic_focal_1 Palmoplantar keratoderma, nonepidermolytic, focal 1 Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_nonepidermolytic_focal_1_pachyonychia_congenita_1 Palmoplantar keratoderma, nonepidermolytic, focal 1;Pachyonychia congenita 1 Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_nonepidermolytic_focal_or_diffuse Palmoplantar keratoderma, nonepidermolytic, focal or diffuse Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_punctate_type_1a Palmoplantar keratoderma, punctate type 1A Supplemental_disease_name DISEASE_NAME:palmoplantar_keratoderma_xx_sex_reversal_predisposition_to_squamous_cell_carcinoma_syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Supplemental_disease_name DISEASE_NAME:palmoplantar_keratodermas Palmoplantar keratodermas Supplemental_disease_name DISEASE_NAME:palpitations_absent_finger_aplasia_hypoplasia_of_the_phalanges_of_the_hand_aplasia_hypoplasia_involving_the_metacarpal_bones Palpitations;Absent finger;Aplasia/Hypoplasia of the phalanges of the hand;Aplasia/Hypoplasia involving the metacarpal bones Supplemental_disease_name DISEASE_NAME:pals1_related_disorder PALS1-related disorder Supplemental_disease_name DISEASE_NAME:pam16_related_disorder PAM16-related disorder Supplemental_disease_name DISEASE_NAME:pan2_related_disorder PAN2-related disorder Supplemental_disease_name DISEASE_NAME:pan2_related_multiple_congenital_anomalies_syndrome PAN2-related multiple congenital anomalies syndrome Supplemental_disease_name DISEASE_NAME:pancreatic_agenesis_2_permanent_neonatal_diabetes_mellitus_pancreatic_and_cerebellar_agenesis_syndrome Pancreatic agenesis 2;Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Supplemental_disease_name DISEASE_NAME:pancreatic_agenesis_3 Pancreatic agenesis 3 Supplemental_disease_name DISEASE_NAME:pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus Pancreatic beta cell agenesis with neonatal diabetes mellitus Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_carcinoma_adenocarcinoma Pancreatic cancer/carcinoma/adenocarcinoma Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to Pancreatic cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_1 Pancreatic cancer, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_2 Pancreatic cancer, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_2_breast_ovarian_cancer_familial_susceptibility_to_2 Pancreatic cancer, susceptibility to, 2;Breast-ovarian cancer, familial, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_3 Pancreatic cancer, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_3_breast_cancer_susceptibility_to Pancreatic cancer, susceptibility to, 3;Breast cancer, susceptibility to Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_3_breast_ovarian_cancer_familial_susceptibility_to_5 Pancreatic cancer, susceptibility to, 3;Breast-ovarian cancer, familial, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_3_breast_ovarian_cancer_familial_susceptibility_to_5_fanconi_anemia_complementation_group_n Pancreatic cancer, susceptibility to, 3;Breast-ovarian cancer, familial, susceptibility to, 5;Fanconi anemia complementation group N Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_3_familial_cancer_of_breast Pancreatic cancer, susceptibility to, 3;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_3_familial_cancer_of_breast_fanconi_anemia_complementation_group_n Pancreatic cancer, susceptibility to, 3;Familial cancer of breast;Fanconi anemia complementation group N Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_3_fanconi_anemia_complementation_group_n_breast_ovarian_cancer_familial_susceptibility_to_5 Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Breast-ovarian cancer, familial, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_3_fanconi_anemia_complementation_group_n_familial_cancer_of_breast Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_4 Pancreatic cancer, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_4_breast_ovarian_cancer_familial_susceptibility_to_1_familial_cancer_of_breast_fanconi_anemia_complementation_group_s Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast;Fanconi anemia, complementation group S Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_4_breast_ovarian_cancer_familial_susceptibility_to_1_fanconi_anemia_complementation_group_s Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_4_familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_1 Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_4_familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_1_fanconi_anemia_complementation_group_s Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_4_familial_cancer_of_breast_fanconi_anemia_complementation_group_s_breast_ovarian_cancer_familial_susceptibility_to_1 Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_4_fanconi_anemia_complementation_group_s_breast_ovarian_cancer_familial_susceptibility_to_1 Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_4_fanconi_anemia_complementation_group_s_familial_cancer_of_breast_breast_ovarian_cancer_familial_susceptibility_to_1 Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S;Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_5 Pancreatic cancer, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:pancreatic_hypoplasia Pancreatic hypoplasia Supplemental_disease_name DISEASE_NAME:pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome_atrioventricular_septal_defect_5 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Atrioventricular septal defect 5 Supplemental_disease_name DISEASE_NAME:pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome_atrioventricular_septal_defect_5_atrial_septal_defect_9_conotruncal_heart_malformations_tetralogy_of_fallot Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Atrioventricular septal defect 5;Atrial septal defect 9;Conotruncal heart malformations;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome_conotruncal_heart_malformations_tetralogy_of_fallot_atrioventricular_septal_defect_5_atrial_septal_defect_9 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Conotruncal heart malformations;Tetralogy of Fallot;Atrioventricular septal defect 5;Atrial septal defect 9 Supplemental_disease_name DISEASE_NAME:pancreatic_insufficiency_anemia_hyperostosis_syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome Supplemental_disease_name DISEASE_NAME:pancreatic_triacylglycerol_lipase_deficiency Pancreatic triacylglycerol lipase deficiency Supplemental_disease_name DISEASE_NAME:pancreatitis_chronic_protection_against Pancreatitis, chronic, protection against Supplemental_disease_name DISEASE_NAME:pancreatitis_chronic_susceptibility_to Pancreatitis, chronic, susceptibility to Supplemental_disease_name DISEASE_NAME:pancytopenia_bone_marrow_hypocellularity Pancytopenia;Bone marrow hypocellularity Supplemental_disease_name DISEASE_NAME:pancytopenia_developmental_delay_syndrome Pancytopenia-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:pancytopenia_due_to_ikzf1_mutations Pancytopenia due to IKZF1 mutations Supplemental_disease_name DISEASE_NAME:panhypopituitarism_x_linked Panhypopituitarism, X-linked Supplemental_disease_name DISEASE_NAME:panhypopituitarism_x_linked_intellectual_disability_x_linked_with_panhypopituitarism Panhypopituitarism, X-linked;Intellectual disability, X-linked, with panhypopituitarism Supplemental_disease_name DISEASE_NAME:pank2_related_disorder PANK2-related disorder Supplemental_disease_name DISEASE_NAME:panx1_related_disorder PANX1-related disorder Supplemental_disease_name DISEASE_NAME:papillary_carcinoma_of_the_corpus_uteri Papillary carcinoma of the corpus uteri Supplemental_disease_name DISEASE_NAME:papillary_renal_cell_carcinoma_type_1 Papillary renal cell carcinoma type 1 Supplemental_disease_name DISEASE_NAME:papillary_renal_cell_carcinoma_type_1_cerebellar_hemangioblastoma_von_hippel_lindau_syndrome_skin_adenoma Papillary renal cell carcinoma type 1;Cerebellar hemangioblastoma;Von Hippel-Lindau syndrome;Skin adenoma Supplemental_disease_name DISEASE_NAME:papillary_renal_cell_carcinoma_type_1_hepatocellular_carcinoma_autosomal_recessive_nonsyndromic_hearing_loss_97_osteofibrous_dysplasia Papillary renal cell carcinoma type 1;Hepatocellular carcinoma;Autosomal recessive nonsyndromic hearing loss 97;Osteofibrous dysplasia Supplemental_disease_name DISEASE_NAME:papillary_thyroid_cancer Papillary thyroid cancer Supplemental_disease_name DISEASE_NAME:papillomas Papillomas Supplemental_disease_name DISEASE_NAME:papillon_lefèvre_syndrome Papillon-Lefèvre syndrome Supplemental_disease_name DISEASE_NAME:papillon_lefèvre_syndrome_haim_munk_syndrome_periodontitis_aggressive Papillon-Lefèvre syndrome;Haim-Munk syndrome;Periodontitis, aggressive Supplemental_disease_name DISEASE_NAME:papillon_lefèvre_syndrome_periodontitis_aggressive_haim_munk_syndrome Papillon-Lefèvre syndrome;Periodontitis, aggressive;Haim-Munk syndrome Supplemental_disease_name DISEASE_NAME:papillorenal_syndrome_with_macular_abnormalities Papillorenal syndrome with macular abnormalities Supplemental_disease_name DISEASE_NAME:pappa2_related_disorder PAPPA2-related disorder Supplemental_disease_name DISEASE_NAME:papss1_related_disorder PAPSS1-related disorder Supplemental_disease_name DISEASE_NAME:papss2_related_disorder PAPSS2-related disorder Supplemental_disease_name DISEASE_NAME:papulosquamous_eruptions Papulosquamous eruptions Supplemental_disease_name DISEASE_NAME:para_bombay_phenotype Para-Bombay phenotype Supplemental_disease_name DISEASE_NAME:paraganglioma_pheochromocytoma Paraganglioma;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:paragangliomas_with_sensorineural_hearing_loss_carney_stratakis_syndrome Paragangliomas with sensorineural hearing loss;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:paragangliomas_with_sensorineural_hearing_loss_carney_stratakis_syndrome_cowden_syndrome_3_pheochromocytoma Paragangliomas with sensorineural hearing loss;Carney-Stratakis syndrome;Cowden syndrome 3;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:paragangliomas_with_sensorineural_hearing_loss_carney_stratakis_syndrome_pheochromocytoma_cowden_syndrome_3 Paragangliomas with sensorineural hearing loss;Carney-Stratakis syndrome;Pheochromocytoma;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:paragangliomas_with_sensorineural_hearing_loss_cowden_syndrome_3_carney_stratakis_syndrome_pheochromocytoma Paragangliomas with sensorineural hearing loss;Cowden syndrome 3;Carney-Stratakis syndrome;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:paragangliomas_with_sensorineural_hearing_loss_cowden_syndrome_3_pheochromocytoma_carney_stratakis_syndrome Paragangliomas with sensorineural hearing loss;Cowden syndrome 3;Pheochromocytoma;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:paragangliomas_with_sensorineural_hearing_loss_pheochromocytoma_carney_stratakis_syndrome_cowden_syndrome_3 Paragangliomas with sensorineural hearing loss;Pheochromocytoma;Carney-Stratakis syndrome;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:paragangliomas_with_sensorineural_hearing_loss_pheochromocytoma_cowden_syndrome_3_carney_stratakis_syndrome Paragangliomas with sensorineural hearing loss;Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:paragangliome_pheochromocytome Paragangliome / Pheochromocytome Supplemental_disease_name DISEASE_NAME:paramyotonia_congenita_hyperkalemic_periodic_paralysis Paramyotonia congenita/hyperkalemic periodic paralysis Supplemental_disease_name DISEASE_NAME:paramyotonia_congenita_myotonia_congenita Paramyotonia congenita/myotonia congenita Supplemental_disease_name DISEASE_NAME:paramyotonia_congenita_of_von_eulenburg_congenital_myasthenic_syndrome_16 Paramyotonia congenita of Von Eulenburg;Congenital myasthenic syndrome 16 Supplemental_disease_name DISEASE_NAME:paramyotonia_congenita_of_von_eulenburg_congenital_myasthenic_syndrome_16_potassium_aggravated_myotonia_hypokalemic_periodic_paralysis_type_2_hyperkalemic_periodic_paralysis Paramyotonia congenita of Von Eulenburg;Congenital myasthenic syndrome 16;Potassium-aggravated myotonia;Hypokalemic periodic paralysis, type 2;Hyperkalemic periodic paralysis Supplemental_disease_name DISEASE_NAME:paramyotonia_congenita_of_von_eulenburg_hypokalemic_periodic_paralysis_type_2_congenital_myasthenic_syndrome_16_hyperkalemic_periodic_paralysis_potassium_aggravated_myotonia Paramyotonia congenita of Von Eulenburg;Hypokalemic periodic paralysis, type 2;Congenital myasthenic syndrome 16;Hyperkalemic periodic paralysis;Potassium-aggravated myotonia Supplemental_disease_name DISEASE_NAME:paramyotonia_congenita_of_von_eulenburg_hypokalemic_periodic_paralysis_type_2_congenital_myasthenic_syndrome_16_potassium_aggravated_myotonia_hyperkalemic_periodic_paralysis Paramyotonia congenita of Von Eulenburg;Hypokalemic periodic paralysis, type 2;Congenital myasthenic syndrome 16;Potassium-aggravated myotonia;Hyperkalemic periodic paralysis Supplemental_disease_name DISEASE_NAME:paramyotonia_congenita_of_von_eulenburg_hypokalemic_periodic_paralysis_type_2_hyperkalemic_periodic_paralysis_potassium_aggravated_myotonia Paramyotonia congenita of Von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic periodic paralysis;Potassium-aggravated myotonia Supplemental_disease_name DISEASE_NAME:paramyotonia_congenita_of_von_eulenburg_potassium_aggravated_myotonia_hypokalemic_periodic_paralysis_type_2_congenital_myasthenic_syndrome_16_hyperkalemic_periodic_paralysis Paramyotonia congenita of Von Eulenburg;Potassium-aggravated myotonia;Hypokalemic periodic paralysis, type 2;Congenital myasthenic syndrome 16;Hyperkalemic periodic paralysis Supplemental_disease_name DISEASE_NAME:paramyotonia_congenita_of_von_eulenburg_potassium_aggravated_myotonia_hypokalemic_periodic_paralysis_type_2_hyperkalemic_periodic_paralysis Paramyotonia congenita of Von Eulenburg;Potassium-aggravated myotonia;Hypokalemic periodic paralysis, type 2;Hyperkalemic periodic paralysis Supplemental_disease_name DISEASE_NAME:paraoxonase_2_polymorphism PARAOXONASE 2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:paraplegia_intellectual_disability_hyperkeratosis_syndrome Paraplegia-intellectual disability-hyperkeratosis syndrome Supplemental_disease_name DISEASE_NAME:parasympathetic_paraganglioma Parasympathetic paraganglioma Supplemental_disease_name DISEASE_NAME:parathyroid_adenoma_somatic Parathyroid adenoma, somatic Supplemental_disease_name DISEASE_NAME:parathyroid_carcinoma_hyperparathyroidism_1_hyperparathyroidism_2_with_jaw_tumors Parathyroid carcinoma;Hyperparathyroidism 1;Hyperparathyroidism 2 with jaw tumors Supplemental_disease_name DISEASE_NAME:parathyroid_carcinoma_hyperparathyroidism_2_with_jaw_tumors Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors Supplemental_disease_name DISEASE_NAME:parathyroid_carcinoma_hyperparathyroidism_2_with_jaw_tumors_hyperparathyroidism_1 Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1 Supplemental_disease_name DISEASE_NAME:parathyroid_gland_adenoma Parathyroid gland adenoma Supplemental_disease_name DISEASE_NAME:parathyroid_gland_adenoma_hypophosphatemic_rickets Parathyroid gland adenoma;Hypophosphatemic rickets Supplemental_disease_name DISEASE_NAME:pard3_related_disorder PARD3-related disorder Supplemental_disease_name DISEASE_NAME:pard3b_related_disorder PARD3B-related disorder Supplemental_disease_name DISEASE_NAME:pard6a_related_disorder PARD6A-related disorder Supplemental_disease_name DISEASE_NAME:parenti_mignot_neurodevelopmental_syndrome Parenti-mignot neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:parietal_foramina_1 Parietal foramina 1 Supplemental_disease_name DISEASE_NAME:parietal_foramina_1_craniosynostosis_2_parietal_foramina_with_cleidocranial_dysplasia Parietal foramina 1;Craniosynostosis 2;Parietal foramina with cleidocranial dysplasia Supplemental_disease_name DISEASE_NAME:parietal_foramina_2 Parietal foramina 2 Supplemental_disease_name DISEASE_NAME:parietal_foramina_with_cleidocranial_dysplasia Parietal foramina with cleidocranial dysplasia Supplemental_disease_name DISEASE_NAME:parietal_foramina_with_cleidocranial_dysplasia_parietal_foramina_1 Parietal foramina with cleidocranial dysplasia;Parietal foramina 1 Supplemental_disease_name DISEASE_NAME:paris_trousseau_thrombocytopenia Paris-Trousseau thrombocytopenia Supplemental_disease_name DISEASE_NAME:park2_related_parkinson_diseases PARK2-related Parkinson diseases Supplemental_disease_name DISEASE_NAME:park7_related_disorder PARK7-related disorder Supplemental_disease_name DISEASE_NAME:parkes_weber_syndrome Parkes Weber syndrome Supplemental_disease_name DISEASE_NAME:parkinson_disease_11_autosomal_dominant_susceptibility_to Parkinson disease 11, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:parkinson_disease_12 Parkinson disease 12 Supplemental_disease_name DISEASE_NAME:parkinson_disease_13_autosomal_dominant_susceptibility_to Parkinson disease 13, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:parkinson_disease_13_autosomal_dominant_susceptibility_to_3_methylglutaconic_aciduria_type_8 Parkinson disease 13, autosomal dominant, susceptibility to;3-methylglutaconic aciduria type 8 Supplemental_disease_name DISEASE_NAME:parkinson_disease_18_autosomal_dominant_susceptibility_to Parkinson disease 18, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:parkinson_disease_19b_early_onset Parkinson disease 19B, early-onset Supplemental_disease_name DISEASE_NAME:parkinson_disease_22_autosomal_dominant Parkinson disease 22, autosomal dominant Supplemental_disease_name DISEASE_NAME:parkinson_disease_24_autosomal_dominant_susceptibility_to Parkinson disease 24, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:parkinson_disease_24_autosomal_dominant_susceptibility_to_krabbe_disease_due_to_saposin_a_deficiency_sphingolipid_activator_protein_1_deficiency_combined_psap_deficiency_gaucher_disease_due_to_saposin_c_deficiency Parkinson disease 24, autosomal dominant, susceptibility to;Krabbe disease due to saposin A deficiency;Sphingolipid activator protein 1 deficiency;Combined PSAP deficiency;Gaucher disease due to saposin C deficiency Supplemental_disease_name DISEASE_NAME:parkinson_disease_25_autosomal_recessive_early_onset_with_impaired_intellectual_development Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development Supplemental_disease_name DISEASE_NAME:parkinson_disease_26_autosomal_dominant_susceptibility_to Parkinson disease 26, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:parkinson_disease_5_autosomal_dominant_susceptibility_to Parkinson disease 5, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:parkinson_disease_5_autosomal_dominant_susceptibility_to_early_onset_progressive_neurodegeneration_blindness_ataxia_spasticity_syndrome Parkinson disease 5, autosomal dominant, susceptibility to;Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Supplemental_disease_name DISEASE_NAME:parkinson_disease_6 Parkinson disease 6 Supplemental_disease_name DISEASE_NAME:parkinson_disease_autosomal_recessive_early_onset_digenic_pink1_dj1 Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 Supplemental_disease_name DISEASE_NAME:parkinson_disease_dominant Parkinson Disease, Dominant Supplemental_disease_name DISEASE_NAME:parkinson_disease_dominant_recessive Parkinson Disease, Dominant/Recessive Supplemental_disease_name DISEASE_NAME:parkinson_disease_late_onset Parkinson disease, late-onset Supplemental_disease_name DISEASE_NAME:parkinson_disease_late_onset_lewy_body_dementia Parkinson disease, late-onset;Lewy body dementia Supplemental_disease_name DISEASE_NAME:parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome Supplemental_disease_name DISEASE_NAME:parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome_pick_disease_frontotemporal_dementia_supranuclear_palsy_progressive_1 Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome;Pick disease;Frontotemporal dementia;Supranuclear palsy, progressive, 1 Supplemental_disease_name DISEASE_NAME:parkinson_disease_late_onset_spinocerebellar_ataxia_type_17 Parkinson disease, late-onset;Spinocerebellar ataxia type 17 Supplemental_disease_name DISEASE_NAME:parkinson_disease_mitochondrial Parkinson disease, mitochondrial Supplemental_disease_name DISEASE_NAME:parkinson_disease_resistance_to Parkinson disease, resistance to Supplemental_disease_name DISEASE_NAME:parkinson_disease_vascular_parkinsonism_parkinsonian_disorder Parkinson disease;Vascular parkinsonism;Parkinsonian disorder Supplemental_disease_name DISEASE_NAME:parkinson_disease_x_linked_dominant Parkinson disease, X-linked dominant Supplemental_disease_name DISEASE_NAME:parkinsonian_disorder Parkinsonian disorder Supplemental_disease_name DISEASE_NAME:parkinsonian_disorder_blindness Parkinsonian disorder;Blindness Supplemental_disease_name DISEASE_NAME:parkinsonian_disorder_dementia_depression_dystonic_disorder Parkinsonian disorder;Dementia;Depression;Dystonic disorder Supplemental_disease_name DISEASE_NAME:parkinsonian_disorder_myopathic_facies_rigidity_oculomotor_apraxia_axial_muscle_stiffness Parkinsonian disorder;Myopathic facies;Rigidity;Oculomotor apraxia;Axial muscle stiffness Supplemental_disease_name DISEASE_NAME:parkinsonian_disorder_vascular_parkinsonism_parkinson_disease Parkinsonian disorder;Vascular parkinsonism;Parkinson disease Supplemental_disease_name DISEASE_NAME:parkinsonism_dystonia Parkinsonism-dystonia Supplemental_disease_name DISEASE_NAME:parkinsonism_dystonia_3_childhood_onset Parkinsonism-dystonia 3, childhood-onset Supplemental_disease_name DISEASE_NAME:parkinsonism_dystonia_3_childhood_onset_neurodevelopmental_disorder_mitochondrial_with_abnormal_movements_and_lactic_acidosis_with_or_without_seizures Parkinsonism-dystonia 3, childhood-onset;Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures Supplemental_disease_name DISEASE_NAME:parkinsonism_dystonia_infantile Parkinsonism-dystonia, infantile Supplemental_disease_name DISEASE_NAME:parkinsonism_melas_overlap_syndrome Parkinsonism/MELAS overlap syndrome Supplemental_disease_name DISEASE_NAME:parkinsonism_plus Parkinsonism-plus Supplemental_disease_name DISEASE_NAME:parkinsonism_with_polyneuropathy Parkinsonism with polyneuropathy Supplemental_disease_name DISEASE_NAME:parn_related_disorder PARN-related disorder Supplemental_disease_name DISEASE_NAME:paroxysmal_atrial_fibrillation Paroxysmal atrial fibrillation Supplemental_disease_name DISEASE_NAME:paroxysmal_atrial_fibrillation_cardiac_arrest_breast_carcinoma_ventricular_fibrillation Paroxysmal atrial fibrillation;Cardiac arrest;Breast carcinoma;Ventricular fibrillation Supplemental_disease_name DISEASE_NAME:paroxysmal_atrial_fibrillation_long_qt_syndrome Paroxysmal atrial fibrillation;Long QT syndrome Supplemental_disease_name DISEASE_NAME:paroxysmal_central_nervous_system_disorders Paroxysmal central nervous system disorders Supplemental_disease_name DISEASE_NAME:paroxysmal_dyskinesia Paroxysmal dyskinesia Supplemental_disease_name DISEASE_NAME:paroxysmal_dystonia Paroxysmal dystonia Supplemental_disease_name DISEASE_NAME:paroxysmal_extreme_pain_disorder_generalized_epilepsy_with_febrile_seizures_plus_type_7_primary_erythromelalgia_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_severe_myoclonic_epilepsy_in_infancy Paroxysmal extreme pain disorder;Generalized epilepsy with febrile seizures plus, type 7;Primary erythromelalgia;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:paroxysmal_extreme_pain_disorder_generalized_epilepsy_with_febrile_seizures_plus_type_7_primary_erythromelalgia_severe_myoclonic_epilepsy_in_infancy_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive Paroxysmal extreme pain disorder;Generalized epilepsy with febrile seizures plus, type 7;Primary erythromelalgia;Severe myoclonic epilepsy in infancy;Channelopathy-associated congenital insensitivity to pain, autosomal recessive Supplemental_disease_name DISEASE_NAME:paroxysmal_extreme_pain_disorder_primary_erythromelalgia_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive Paroxysmal extreme pain disorder;Primary erythromelalgia;Channelopathy-associated congenital insensitivity to pain, autosomal recessive Supplemental_disease_name DISEASE_NAME:paroxysmal_extreme_pain_disorder_small_fiber_neuropathy_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_primary_erythromelalgia_generalized_epilepsy_with_febrile_seizures_plus Paroxysmal extreme pain disorder;Small fiber neuropathy;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Primary erythromelalgia;Generalized epilepsy with febrile seizures plus Supplemental_disease_name DISEASE_NAME:paroxysmal_familial_ventricular_fibrillation Paroxysmal familial ventricular fibrillation Supplemental_disease_name DISEASE_NAME:paroxysmal_kinesigenic_dyskinesia Paroxysmal kinesigenic dyskinesia Supplemental_disease_name DISEASE_NAME:paroxysmal_nocturnal_hemoglobinuria_1 Paroxysmal nocturnal hemoglobinuria 1 Supplemental_disease_name DISEASE_NAME:paroxysmal_nocturnal_hemoglobinuria_1_multiple_congenital_anomalies_hypotonia_seizures_syndrome_2 Paroxysmal nocturnal hemoglobinuria 1;Multiple congenital anomalies-hypotonia-seizures syndrome 2 Supplemental_disease_name DISEASE_NAME:paroxysmal_nocturnal_hemoglobinuria_1_multiple_congenital_anomalies_hypotonia_seizures_syndrome_2_neurodevelopmental_disorder_with_epilepsy_and_hemochromatosis Paroxysmal nocturnal hemoglobinuria 1;Multiple congenital anomalies-hypotonia-seizures syndrome 2;Neurodevelopmental disorder with epilepsy and hemochromatosis Supplemental_disease_name DISEASE_NAME:paroxysmal_nocturnal_hemoglobinuria_1_neurodevelopmental_disorder_with_epilepsy_and_hemochromatosis_multiple_congenital_anomalies_hypotonia_seizures_syndrome_2 Paroxysmal nocturnal hemoglobinuria 1;Neurodevelopmental disorder with epilepsy and hemochromatosis;Multiple congenital anomalies-hypotonia-seizures syndrome 2 Supplemental_disease_name DISEASE_NAME:paroxysmal_nocturnal_hemoglobinuria_2 Paroxysmal nocturnal hemoglobinuria 2 Supplemental_disease_name DISEASE_NAME:paroxysmal_nonkinesigenic_dyskinesia Paroxysmal nonkinesigenic dyskinesia Supplemental_disease_name DISEASE_NAME:parp1_related_disorder PARP1-related disorder Supplemental_disease_name DISEASE_NAME:pars2_related_disorder PARS2-related disorder Supplemental_disease_name DISEASE_NAME:partial_acquired_lipodystrophy Partial acquired lipodystrophy Supplemental_disease_name DISEASE_NAME:partial_adenosine_deaminase_deficiency Partial adenosine deaminase deficiency Supplemental_disease_name DISEASE_NAME:partial_agenesis_of_the_corpus_callosum Partial agenesis of the corpus callosum Supplemental_disease_name DISEASE_NAME:partial_agenesis_of_the_corpus_callosum_microcephaly_severe_global_developmental_delay Partial agenesis of the corpus callosum;Microcephaly;Severe global developmental delay Supplemental_disease_name DISEASE_NAME:partial_androgen_insensitivity_syndrome_androgen_resistance_syndrome Partial androgen insensitivity syndrome;Androgen resistance syndrome Supplemental_disease_name DISEASE_NAME:partial_androgen_insensitivity_syndrome_hypospadias_1_x_linked_androgen_resistance_syndrome Partial androgen insensitivity syndrome;Hypospadias 1, X-linked;Androgen resistance syndrome Supplemental_disease_name DISEASE_NAME:partial_deletion_of_the_long_arm_of_chromosome_11 Partial deletion of the long arm of chromosome 11 Supplemental_disease_name DISEASE_NAME:partial_deletion_of_the_long_arm_of_chromosome_7 Partial deletion of the long arm of chromosome 7 Supplemental_disease_name DISEASE_NAME:partial_deletion_of_the_long_arm_of_chromosome_x Partial deletion of the long arm of chromosome X Supplemental_disease_name DISEASE_NAME:partial_duplication_of_the_long_arm_of_chromosome_3 Partial duplication of the long arm of chromosome 3 Supplemental_disease_name DISEASE_NAME:partial_duplication_of_the_long_arm_of_chromosome_4 Partial duplication of the long arm of chromosome 4 Supplemental_disease_name DISEASE_NAME:partial_duplication_of_the_long_arm_of_chromosome_7 Partial duplication of the long arm of chromosome 7 Supplemental_disease_name DISEASE_NAME:partial_duplication_of_the_short_arm_of_chromosome_3 Partial duplication of the short arm of chromosome 3 Supplemental_disease_name DISEASE_NAME:partial_duplication_of_thumb_phalanx_severe_intellectual_disability_clinodactyly_hirsutism_abnormal_facial_shape Partial duplication of thumb phalanx;Severe intellectual disability;Clinodactyly;Hirsutism;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:partial_hypoxanthine_guanine_phosphoribosyltransferase_deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Supplemental_disease_name DISEASE_NAME:partial_hypoxanthine_guanine_phosphoribosyltransferase_deficiency_lesch_nyhan_syndrome Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome Supplemental_disease_name DISEASE_NAME:partial_lipodystrophy_congenital_cataracts_and_neurodegeneration_syndrome Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Supplemental_disease_name DISEASE_NAME:partial_lipodystrophy_congenital_cataracts_and_neurodegeneration_syndrome_congenital_generalized_lipodystrophy_type_3_pulmonary_hypertension_primary_3 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome;Congenital generalized lipodystrophy type 3;Pulmonary hypertension, primary, 3 Supplemental_disease_name DISEASE_NAME:partial_lipodystrophy_congenital_cataracts_and_neurodegeneration_syndrome_pulmonary_hypertension_primary_3_congenital_generalized_lipodystrophy_type_3 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome;Pulmonary hypertension, primary, 3;Congenital generalized lipodystrophy type 3 Supplemental_disease_name DISEASE_NAME:partial_trisomy_of_the_long_arm_of_chromosome_16 Partial trisomy of the long arm of chromosome 16 Supplemental_disease_name DISEASE_NAME:partington_syndrome_corpus_callosum_agenesis_abnormal_genitalia_syndrome_developmental_and_epileptic_encephalopathy_1_intellectual_disability_x_linked_with_or_without_seizures_arx_related Partington syndrome;Corpus callosum agenesis-abnormal genitalia syndrome;Developmental and epileptic encephalopathy, 1;Intellectual disability, X-linked, with or without seizures, ARX-related Supplemental_disease_name DISEASE_NAME:partington_syndrome_x_linked_lissencephaly_with_abnormal_genitalia_corpus_callosum_agenesis_abnormal_genitalia_syndrome_developmental_and_epileptic_encephalopathy_1_intellectual_disability_x_linked_with_or_without_seizures_arx_related Partington syndrome;X-linked lissencephaly with abnormal genitalia;Corpus callosum agenesis-abnormal genitalia syndrome;Developmental and epileptic encephalopathy, 1;Intellectual disability, X-linked, with or without seizures, ARX-related Supplemental_disease_name DISEASE_NAME:partington_syndrome_x_linked_lissencephaly_with_abnormal_genitalia_developmental_and_epileptic_encephalopathy_1_intellectual_disability_x_linked_with_or_without_seizures_arx_related_corpus_callosum_agenesis_abnormal_genitalia_syndrome Partington syndrome;X-linked lissencephaly with abnormal genitalia;Developmental and epileptic encephalopathy, 1;Intellectual disability, X-linked, with or without seizures, ARX-related;Corpus callosum agenesis-abnormal genitalia syndrome Supplemental_disease_name DISEASE_NAME:pask_related_disorder PASK-related disorder Supplemental_disease_name DISEASE_NAME:patellar_hypoplasia_knee_dislocation_limited_knee_flexion_extension Patellar hypoplasia;Knee dislocation;Limited knee flexion/extension Supplemental_disease_name DISEASE_NAME:patent_ductus_arteriosus_2 Patent ductus arteriosus 2 Supplemental_disease_name DISEASE_NAME:patent_ductus_arteriosus_2_char_syndrome Patent ductus arteriosus 2;Char syndrome Supplemental_disease_name DISEASE_NAME:patent_ductus_arteriosus_3 Patent ductus arteriosus 3 Supplemental_disease_name DISEASE_NAME:patent_ductus_arteriosus_abnormal_facial_shape_patent_foramen_ovale Patent ductus arteriosus;Abnormal facial shape;Patent foramen ovale Supplemental_disease_name DISEASE_NAME:patent_foramen_ovale_dysplastic_corpus_callosum_patent_ductus_arteriosus Patent foramen ovale;Dysplastic corpus callosum;Patent ductus arteriosus Supplemental_disease_name DISEASE_NAME:paternal_uniparental_disomy_of_chromosome_14 Paternal uniparental disomy of chromosome 14 Supplemental_disease_name DISEASE_NAME:pathological_myocardial_hypertrophy Pathological myocardial hypertrophy Supplemental_disease_name DISEASE_NAME:pathological_scar Pathological scar Supplemental_disease_name DISEASE_NAME:patl2_related_disorder PATL2-related disorder Supplemental_disease_name DISEASE_NAME:patterned_dystrophy_of_the_retinal_pigment_epithelium Patterned dystrophy of the retinal pigment epithelium Supplemental_disease_name DISEASE_NAME:patterned_macular_dystrophy_1_choroidal_dystrophy_central_areolar_2_retinitis_pigmentosa_7_pigmentary_retinal_dystrophy_vitelliform_macular_dystrophy_3 Patterned macular dystrophy 1;Choroidal dystrophy, central areolar 2;Retinitis pigmentosa 7;Pigmentary retinal dystrophy;Vitelliform macular dystrophy 3 Supplemental_disease_name DISEASE_NAME:paul_chao_neurodevelopmental_syndrome PAUL-CHAO NEURODEVELOPMENTAL SYNDROME Supplemental_disease_name DISEASE_NAME:pax1_related_disorder PAX1-related disorder Supplemental_disease_name DISEASE_NAME:pax2_related_disorder PAX2-Related Disorder Supplemental_disease_name DISEASE_NAME:pax3_related_disorder PAX3-related disorder Supplemental_disease_name DISEASE_NAME:pax4_related_disorder PAX4-related disorder Supplemental_disease_name DISEASE_NAME:pax5_related_disorder PAX5-related disorder Supplemental_disease_name DISEASE_NAME:pax6_aniridia_syndrome PAX6 Aniridia Syndrome Supplemental_disease_name DISEASE_NAME:pax6_related_disorder PAX6-related disorder Supplemental_disease_name DISEASE_NAME:pax6_related_ocular_dysgenesis PAX6-related ocular dysgenesis Supplemental_disease_name DISEASE_NAME:pax7_related_disorder PAX7-related disorder Supplemental_disease_name DISEASE_NAME:pax8_polymorphism PAX8 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:pax8_related_disorder PAX8-related disorder Supplemental_disease_name DISEASE_NAME:pax9_related_disorder PAX9-related disorder Supplemental_disease_name DISEASE_NAME:pazopanib_response Pazopanib response Supplemental_disease_name DISEASE_NAME:pbrm1_related_bafopathy PBRM1-related BAFopathy Supplemental_disease_name DISEASE_NAME:pbx1_related_disorder PBX1-related disorder Supplemental_disease_name DISEASE_NAME:pbx1_related_intellectual_disability_and_pleiotropic_developmental_defects PBX1-related intellectual disability and pleiotropic developmental defects Supplemental_disease_name DISEASE_NAME:pc_related_disorder PC-related disorder Supplemental_disease_name DISEASE_NAME:pcare_related_disorder PCARE-related disorder Supplemental_disease_name DISEASE_NAME:pcare_related_retinopathy PCARE-related retinopathy Supplemental_disease_name DISEASE_NAME:pcbd1_related_disorder PCBD1-related disorder Supplemental_disease_name DISEASE_NAME:pcbp3_related_disorder PCBP3-related disorder Supplemental_disease_name DISEASE_NAME:pcca_related_disorder PCCA-related disorder Supplemental_disease_name DISEASE_NAME:pccb_related_disorder PCCB-related disorder Supplemental_disease_name DISEASE_NAME:pcdh11x_related_disorder PCDH11X-related disorder Supplemental_disease_name DISEASE_NAME:pcdh12_related_disorder PCDH12-related disorder Supplemental_disease_name DISEASE_NAME:pcdh15_related_disorder PCDH15-related disorder Supplemental_disease_name DISEASE_NAME:pcdh19_related_disorder PCDH19-related disorder Supplemental_disease_name DISEASE_NAME:pcdh19_related_epilepsy PCDH19-related epilepsy Supplemental_disease_name DISEASE_NAME:pcdh19_related_epilepsy_syndrome PCDH19-related epilepsy syndrome Supplemental_disease_name DISEASE_NAME:pcdh19_related_epilespy PCDH19-related epilespy Supplemental_disease_name DISEASE_NAME:pcdh9_related_disorder PCDH9-related disorder Supplemental_disease_name DISEASE_NAME:pcdha12_related_condition PCDHA12-related condition Supplemental_disease_name DISEASE_NAME:pcdha13_related_disorder PCDHA13-related disorder Supplemental_disease_name DISEASE_NAME:pcdha2_related_disorder PCDHA2-related disorder Supplemental_disease_name DISEASE_NAME:pcdha3_related_disorder PCDHA3-related disorder Supplemental_disease_name DISEASE_NAME:pcdha9_related_disorder PCDHA9-related disorder Supplemental_disease_name DISEASE_NAME:pcdhgc4_related_disorder PCDHGC4-related disorder Supplemental_disease_name DISEASE_NAME:pcgf2_related_disorder PCGF2-related disorder Supplemental_disease_name DISEASE_NAME:pck1_related_disorder PCK1-related disorder Supplemental_disease_name DISEASE_NAME:pck2_related_disorder PCK2-related disorder Supplemental_disease_name DISEASE_NAME:pck2_related_neuropathy PCK2-related neuropathy Supplemental_disease_name DISEASE_NAME:pclo_related_disorder PCLO-related disorder Supplemental_disease_name DISEASE_NAME:pcm1_related_disorder PCM1-related disorder Supplemental_disease_name DISEASE_NAME:pcna_related_disorder PCNA-related disorder Supplemental_disease_name DISEASE_NAME:pcnt_related_disorder PCNT-related disorder Supplemental_disease_name DISEASE_NAME:pcolce_related_disorder PCOLCE-related disorder Supplemental_disease_name DISEASE_NAME:pcpb2_related_neurodevelomental_disorder PCPB2-related neurodevelomental disorder Supplemental_disease_name DISEASE_NAME:pcsk1_related_disorder PCSK1-related disorder Supplemental_disease_name DISEASE_NAME:pcsk5_related_disorder PCSK5-related disorder Supplemental_disease_name DISEASE_NAME:pcsk9_related_disorder PCSK9-related disorder Supplemental_disease_name DISEASE_NAME:pcwh_syndrome_waardenburg_syndrome_type_2e_waardenburg_syndrome_type_4c PCWH syndrome;Waardenburg syndrome type 2E;Waardenburg syndrome type 4C Supplemental_disease_name DISEASE_NAME:pcwh_syndrome_waardenburg_syndrome_type_4c_waardenburg_syndrome_type_2e PCWH syndrome;Waardenburg syndrome type 4C;Waardenburg syndrome type 2E Supplemental_disease_name DISEASE_NAME:pcyt1a_related_disorder PCYT1A-related disorder Supplemental_disease_name DISEASE_NAME:pda1 PDA1 Supplemental_disease_name DISEASE_NAME:pdcd10_related_disorder PDCD10-related disorder Supplemental_disease_name DISEASE_NAME:pdcd1_related_disorder PDCD1-related disorder Supplemental_disease_name DISEASE_NAME:pde10a_related_disorder PDE10A-related disorder Supplemental_disease_name DISEASE_NAME:pde11a_related_disorder PDE11A-related disorder Supplemental_disease_name DISEASE_NAME:pde1a_related_disorder PDE1A-related disorder Supplemental_disease_name DISEASE_NAME:pde1c_related_disorder PDE1C-related disorder Supplemental_disease_name DISEASE_NAME:pde2a_related_disorder PDE2A-related disorder Supplemental_disease_name DISEASE_NAME:pde3a_related_disorder PDE3A-related disorder Supplemental_disease_name DISEASE_NAME:pde4d_related_disorder PDE4D-related disorder Supplemental_disease_name DISEASE_NAME:pde6a_related_disorder PDE6A-related disorder Supplemental_disease_name DISEASE_NAME:pde6a_related_retinopathy PDE6A-related retinopathy Supplemental_disease_name DISEASE_NAME:pde6b_related_disorder PDE6B-related disorder Supplemental_disease_name DISEASE_NAME:pde6c_related_disorder PDE6C-related disorder Supplemental_disease_name DISEASE_NAME:pde6d_related_disorder PDE6D-related disorder Supplemental_disease_name DISEASE_NAME:pde6h_related_disorder PDE6H-related disorder Supplemental_disease_name DISEASE_NAME:pde8b_related_disorder PDE8B-related disorder Supplemental_disease_name DISEASE_NAME:pde8b_related_disorders PDE8B-Related Disorders Supplemental_disease_name DISEASE_NAME:pdgfb_related_disorder PDGFB-related disorder Supplemental_disease_name DISEASE_NAME:pdgfc_related_disorder PDGFC-related disorder Supplemental_disease_name DISEASE_NAME:pdgfra_related_disorder PDGFRA-related disorder Supplemental_disease_name DISEASE_NAME:pdgfrb_related_disorder PDGFRB-related disorder Supplemental_disease_name DISEASE_NAME:pdha1_related_disorder PDHA1-related disorder Supplemental_disease_name DISEASE_NAME:pdhb_related_disorder PDHB-related disorder Supplemental_disease_name DISEASE_NAME:pdhx_related_disorder PDHX-related disorder Supplemental_disease_name DISEASE_NAME:pdia3_related_disorder PDIA3-related disorder Supplemental_disease_name DISEASE_NAME:pdk3_related_disorder PDK3-related disorder Supplemental_disease_name DISEASE_NAME:pdlim3_related_disorder PDLIM3-related disorder Supplemental_disease_name DISEASE_NAME:pdp1_related_disorder PDP1-related disorder Supplemental_disease_name DISEASE_NAME:pdpk1_related_disorder PDPK1-related disorder Supplemental_disease_name DISEASE_NAME:pdpr_related_disorder PDPR-related disorder Supplemental_disease_name DISEASE_NAME:pds5a_related_disorder PDS5A-related disorder Supplemental_disease_name DISEASE_NAME:pds5b_related_developmental_disorder PDS5B-related developmental disorder Supplemental_disease_name DISEASE_NAME:pdss1_related_disorder PDSS1-related disorder Supplemental_disease_name DISEASE_NAME:pdss2_related_disorder PDSS2-related disorder Supplemental_disease_name DISEASE_NAME:pdx1_related_disorder PDX1-related disorder Supplemental_disease_name DISEASE_NAME:pdxdc1_related_disorder PDXDC1-related disorder Supplemental_disease_name DISEASE_NAME:pdxk_related_disorder PDXK-related disorder Supplemental_disease_name DISEASE_NAME:pdyn_related_disorder PDYN-related disorder Supplemental_disease_name DISEASE_NAME:pdzd2_related_disorder PDZD2-related disorder Supplemental_disease_name DISEASE_NAME:pdzd7_related_disorder PDZD7-related disorder Supplemental_disease_name DISEASE_NAME:peak1_related_disorder PEAK1-related disorder Supplemental_disease_name DISEASE_NAME:pecam1_polymorphism PECAM1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:pectus_carinatum_lens_subluxation_myopia_tall_stature Pectus carinatum;Lens subluxation;Myopia;Tall stature Supplemental_disease_name DISEASE_NAME:pectus_excavatum_microcephaly_hypotonia_visual_disturbance_nystagmus Pectus excavatum;Microcephaly;Hypotonia;visual disturbance;Nystagmus Supplemental_disease_name DISEASE_NAME:pectus_excavatum_noonan_syndrome_like_disorder_with_loose_anagen_hair_1 Pectus excavatum;Noonan syndrome-like disorder with loose anagen hair 1 Supplemental_disease_name DISEASE_NAME:pectus_excavatum_ptosis_clinodactyly_of_the_5th_finger_proptosis_cardiomyopathy Pectus excavatum;Ptosis;Clinodactyly of the 5th finger;Proptosis;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:pediatric_acute_lymphoblastic_leukemia Pediatric acute lymphoblastic leukemia Supplemental_disease_name DISEASE_NAME:pediatric_high_grade_glioma Pediatric high-grade glioma Supplemental_disease_name DISEASE_NAME:pediatric_metastatic_thyroid_tumour Pediatric metastatic thyroid tumour Supplemental_disease_name DISEASE_NAME:pediatric_onset_cardiomyopathy pediatric-onset cardiomyopathy Supplemental_disease_name DISEASE_NAME:peeling_skin_leukonuchia_acral_punctate_keratoses_cheilitis_knuckle_pads_syndrome Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome Supplemental_disease_name DISEASE_NAME:peeling_skin_syndrome_type_a Peeling skin syndrome type A Supplemental_disease_name DISEASE_NAME:peg3_related_disorder PEG3-related disorder Supplemental_disease_name DISEASE_NAME:peginterferon_alfa_2a_peginterferon_alfa_2b_and_ribavirin_response_efficacy peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy Supplemental_disease_name DISEASE_NAME:peginterferon_alfa_2a_peginterferon_alfa_2b_ribavirin_and_telaprevir_response_efficacy peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy Supplemental_disease_name DISEASE_NAME:peginterferon_alfa_2a_response_efficacy peginterferon alfa-2a response - Efficacy Supplemental_disease_name DISEASE_NAME:peginterferon_alfa_2b_and_ribavirin_response_toxicity peginterferon alfa-2b and ribavirin response - Toxicity Supplemental_disease_name DISEASE_NAME:peginterferon_alfa_2b_response_efficacy peginterferon alfa-2b response - Efficacy Supplemental_disease_name DISEASE_NAME:peho_like_syndrome PEHO-like syndrome Supplemental_disease_name DISEASE_NAME:pelger_huet_like_anomaly_and_episodic_fever_with_abdominal_pain Pelger-Huet-like anomaly and episodic fever with abdominal pain Supplemental_disease_name DISEASE_NAME:pelger_huët_anomaly Pelger-Huët anomaly Supplemental_disease_name DISEASE_NAME:pelger_huët_anomaly_regressive_spondylometaphyseal_dysplasia_greenberg_dysplasia Pelger-Huët anomaly;Regressive spondylometaphyseal dysplasia;Greenberg dysplasia Supplemental_disease_name DISEASE_NAME:pelizaeus_merzbacher_disease_atypical Pelizaeus-Merzbacher disease, atypical Supplemental_disease_name DISEASE_NAME:pelizaeus_merzbacher_disease_connatal Pelizaeus-Merzbacher disease, connatal Supplemental_disease_name DISEASE_NAME:pelizaeus_merzbacher_disease_hereditary_spastic_paraplegia_2 Pelizaeus-Merzbacher disease;Hereditary spastic paraplegia 2 Supplemental_disease_name DISEASE_NAME:pelizaeus_merzbacher_disease_mild Pelizaeus-Merzbacher disease, mild Supplemental_disease_name DISEASE_NAME:pelviscapular_dysplasia Pelviscapular dysplasia Supplemental_disease_name DISEASE_NAME:pemigatinib_resistance Pemigatinib resistance Supplemental_disease_name DISEASE_NAME:pen_a_pen_b_alloantigen_polymorphism PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM Supplemental_disease_name DISEASE_NAME:pena_shokeir_syndrome Pena-shokeir syndrome Supplemental_disease_name DISEASE_NAME:pendred_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_4 Pendred syndrome;Autosomal recessive nonsyndromic hearing loss 4 Supplemental_disease_name DISEASE_NAME:pendred_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_4_east_syndrome Pendred syndrome;Autosomal recessive nonsyndromic hearing loss 4;EAST syndrome Supplemental_disease_name DISEASE_NAME:pendred_syndrome_east_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_4 Pendred syndrome;EAST syndrome;Autosomal recessive nonsyndromic hearing loss 4 Supplemental_disease_name DISEASE_NAME:penetrating_foot_ulcers_osteomyelitis_leading_to_amputation_due_to_slow_healing_fractures_distal_sensory_impairment_distal_lower_limb_muscle_weakness Penetrating foot ulcers;Osteomyelitis leading to amputation due to slow healing fractures;Distal sensory impairment;Distal lower limb muscle weakness Supplemental_disease_name DISEASE_NAME:penile_hypospadias_cataract_ambiguous_genitalia Penile hypospadias;Cataract;Ambiguous genitalia Supplemental_disease_name DISEASE_NAME:pepd_related_disorder PEPD-related disorder Supplemental_disease_name DISEASE_NAME:peptide_transporter_psf1_polymorphism PEPTIDE TRANSPORTER PSF1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:per2_related_disorder PER2-related disorder Supplemental_disease_name DISEASE_NAME:per3_related_disorder PER3-related disorder Supplemental_disease_name DISEASE_NAME:perching_syndrome Perching syndrome Supplemental_disease_name DISEASE_NAME:perching_syndrome_bohring_opitz_like_syndrome PERCHING syndrome;Bohring-Opitz-like syndrome Supplemental_disease_name DISEASE_NAME:pericardial_effusion_pleural_effusion Pericardial effusion;Pleural effusion Supplemental_disease_name DISEASE_NAME:pericardial_effusion_pleural_effusion_fever Pericardial effusion;Pleural effusion;Fever Supplemental_disease_name DISEASE_NAME:pericementitis Pericementitis Supplemental_disease_name DISEASE_NAME:perinatal_lethal_hypophosphatasia Perinatal lethal hypophosphatasia Supplemental_disease_name DISEASE_NAME:periodic_fever_infantile_enterocolitis_autoinflammatory_syndrome Periodic fever-infantile enterocolitis-autoinflammatory syndrome Supplemental_disease_name DISEASE_NAME:periodic_fever_infantile_enterocolitis_autoinflammatory_syndrome_familial_cold_autoinflammatory_syndrome_4 Periodic fever-infantile enterocolitis-autoinflammatory syndrome;Familial cold autoinflammatory syndrome 4 Supplemental_disease_name DISEASE_NAME:periodic_fever_syndrome Periodic fever syndrome Supplemental_disease_name DISEASE_NAME:periodic_paralysis Periodic paralysis Supplemental_disease_name DISEASE_NAME:periodontitis_aggressive Periodontitis, aggressive Supplemental_disease_name DISEASE_NAME:periodontitis_aggressive_1_papillon_lefèvre_syndrome_haim_munk_syndrome Periodontitis, aggressive 1;Papillon-Lefèvre syndrome;Haim-Munk syndrome Supplemental_disease_name DISEASE_NAME:periodontitis_aggressive_haim_munk_syndrome_papillon_lefèvre_syndrome Periodontitis, aggressive;Haim-Munk syndrome;Papillon-Lefèvre syndrome Supplemental_disease_name DISEASE_NAME:periodontitis_aggressive_papillon_lefèvre_syndrome_haim_munk_syndrome Periodontitis, aggressive;Papillon-Lefèvre syndrome;Haim-Munk syndrome Supplemental_disease_name DISEASE_NAME:periorbital_hyperpigmentation_intestinal_polyposis Periorbital hyperpigmentation;Intestinal polyposis Supplemental_disease_name DISEASE_NAME:peripheral_arterial_occlusive_disease_1 Peripheral arterial occlusive disease 1 Supplemental_disease_name DISEASE_NAME:peripheral_axonal_neuropathy Peripheral axonal neuropathy Supplemental_disease_name DISEASE_NAME:peripheral_axonal_neuropathy_distal_muscle_weakness_distal_lower_limb_amyotrophy Peripheral axonal neuropathy;Distal muscle weakness;Distal lower limb amyotrophy Supplemental_disease_name DISEASE_NAME:peripheral_demyelination_distal_muscle_weakness_hand_muscle_atrophy_peripheral_neuropathy_decreased_nerve_conduction_velocity Peripheral demyelination;Distal muscle weakness;Hand muscle atrophy;Peripheral neuropathy;Decreased nerve conduction velocity Supplemental_disease_name DISEASE_NAME:peripheral_motor_neuropathy_childhood_onset_biotin_responsive Peripheral motor neuropathy, childhood-onset, biotin-responsive Supplemental_disease_name DISEASE_NAME:peripheral_nerve_hyperexcitability_syndrome Peripheral nerve hyperexcitability syndrome Supplemental_disease_name DISEASE_NAME:peripheral_neuropathy Peripheral neuropathy Supplemental_disease_name DISEASE_NAME:peripheral_neuropathy_abnormal_macular_morphology Peripheral neuropathy;Abnormal macular morphology Supplemental_disease_name DISEASE_NAME:peripheral_neuropathy_autosomal_recessive_with_or_without_impaired_intellectual_development Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development Supplemental_disease_name DISEASE_NAME:peripheral_neuropathy_cataract_growth_hormone_deficiency_with_short_stature_partial_sensorineural_deafness Peripheral neuropathy;Cataract;growth hormone deficiency with short stature;partial sensorineural deafness Supplemental_disease_name DISEASE_NAME:peripheral_neuropathy_hearing_impairment_ataxia Peripheral neuropathy;Hearing impairment;Ataxia Supplemental_disease_name DISEASE_NAME:peripheral_neuropathy_myopathy_hoarseness_hearing_loss_syndrome Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Supplemental_disease_name DISEASE_NAME:peripheral_neuropathy_myopathy_hoarseness_hearing_loss_syndrome_autosomal_dominant_nonsyndromic_hearing_loss_4a Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome;Autosomal dominant nonsyndromic hearing loss 4A Supplemental_disease_name DISEASE_NAME:peripheral_neuropathy_sensory_neuropathy Peripheral neuropathy;Sensory neuropathy Supplemental_disease_name DISEASE_NAME:peripheral_neuropathy_with_variable_spasticity Peripheral neuropathy with variable spasticity Supplemental_disease_name DISEASE_NAME:peripheral_precocious_puberty Peripheral precocious puberty Supplemental_disease_name DISEASE_NAME:peripheral_pulmonary_artery_stenosis_amelogenesis_imperfecta Peripheral pulmonary artery stenosis;Amelogenesis imperfecta Supplemental_disease_name DISEASE_NAME:peripheral_schwannoma_schwannoma Peripheral schwannoma;Schwannoma Supplemental_disease_name DISEASE_NAME:periportal_fibrosis_oligohydramnios_polycystic_kidney_disease Periportal fibrosis;Oligohydramnios;Polycystic kidney disease Supplemental_disease_name DISEASE_NAME:perisylvian_polymicrogyria_lissencephaly_type_3_primary_microcephaly_moderate_intellectual_disability Perisylvian polymicrogyria;Lissencephaly type 3;Primary microcephaly;Moderate intellectual disability Supplemental_disease_name DISEASE_NAME:peritoneal_gliomatosis Peritoneal Gliomatosis Supplemental_disease_name DISEASE_NAME:periventricular_cysts_macrocephaly Periventricular cysts;Macrocephaly Supplemental_disease_name DISEASE_NAME:periventricular_heterotopia_arachnoid_cyst_corpus_callosum_agenesis_of Periventricular heterotopia;Arachnoid cyst;Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:periventricular_heterotopia_with_microcephaly_autosomal_recessive Periventricular heterotopia with microcephaly, autosomal recessive Supplemental_disease_name DISEASE_NAME:periventricular_laminar_heterotopia Periventricular laminar heterotopia Supplemental_disease_name DISEASE_NAME:periventricular_nodular_heterotopia_9_hearing_loss_autosomal_dominant_83 Periventricular nodular heterotopia 9;Hearing loss, autosomal dominant 83 Supplemental_disease_name DISEASE_NAME:periventricular_nodular_heterotopia_and_epilepsy Periventricular nodular heterotopia and epilepsy Supplemental_disease_name DISEASE_NAME:periventricular_nodular_heterotopia_autism_spectrum_disorder_white_matter_deficit_hypoplasia_of_the_corpus_callosum_cognitive_impairment Periventricular nodular heterotopia;Autism spectrum disorder;White matter deficit;Hypoplasia of the corpus callosum;Cognitive impairment Supplemental_disease_name DISEASE_NAME:periventricular_nodular_heterotopia_isolated_unilateral_hemispheric_cerebellar_hypoplasia Periventricular nodular heterotopia;Isolated unilateral hemispheric cerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:periventricular_nodular_heterotopia_white_matter_deficit_hypoplasia_of_the_corpus_callosum_cognitive_impairment Periventricular nodular heterotopia;White matter deficit;Hypoplasia of the corpus callosum;Cognitive impairment Supplemental_disease_name DISEASE_NAME:periventricular_nodular_heterotopia_with_syndactyly_cleft_palate_and_developmental_delay Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay Supplemental_disease_name DISEASE_NAME:permanent_neonatal_diabetes_mellitus_1 Permanent neonatal diabetes mellitus 1 Supplemental_disease_name DISEASE_NAME:permanent_neonatal_diabetes_mellitus_1_maturity_onset_diabetes_of_the_young_type_2_type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_3 Permanent neonatal diabetes mellitus 1;Maturity-onset diabetes of the young type 2;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 3 Supplemental_disease_name DISEASE_NAME:permanent_neonatal_diabetes_mellitus_diabetes_mellitus_transient_neonatal_2_hyperinsulinemic_hypoglycemia_familial_1_leucine_induced_hypoglycemia_type_2_diabetes_mellitus Permanent neonatal diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:permanent_neonatal_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_3_maturity_onset_diabetes_of_the_young_type_2_type_2_diabetes_mellitus Permanent neonatal diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 3;Maturity-onset diabetes of the young type 2;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:permanent_neonatal_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_2_type_2_diabetes_mellitus Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young type 2;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:permanent_neonatal_diabetes_mellitus_pancreatic_and_cerebellar_agenesis_syndrome Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Supplemental_disease_name DISEASE_NAME:permanent_neonatal_diabetes_mellitus_pancreatic_and_cerebellar_agenesis_syndrome_pancreatic_agenesis_2 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome;Pancreatic agenesis 2 Supplemental_disease_name DISEASE_NAME:peroxisomal_biogenesis_disorder_3b Peroxisomal biogenesis disorder 3b Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder Peroxisome biogenesis disorder Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_10a_zellweger_peroxisome_biogenesis_disorder_10b Peroxisome biogenesis disorder 10A (Zellweger);Peroxisome biogenesis disorder 10B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_11a_zellweger_peroxisome_biogenesis_disorder_11b Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_1a_zellweger_heimler_syndrome_1_peroxisome_biogenesis_disorder_1b Peroxisome biogenesis disorder 1A (Zellweger);Heimler syndrome 1;Peroxisome biogenesis disorder 1B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_1a_zellweger_peroxisome_biogenesis_disorder_1b Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_1a_zellweger_peroxisome_biogenesis_disorder_1b_heimler_syndrome_1 Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B;Heimler syndrome 1 Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_1b_heimler_syndrome_1_peroxisome_biogenesis_disorder_1a_zellweger Peroxisome biogenesis disorder 1B;Heimler syndrome 1;Peroxisome biogenesis disorder 1A (Zellweger) Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_1b_peroxisome_biogenesis_disorder_1a_zellweger Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorder 1A (Zellweger) Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_1b_peroxisome_biogenesis_disorder_1a_zellweger_heimler_syndrome_1 Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorder 1A (Zellweger);Heimler syndrome 1 Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_2a_zellweger_peroxisome_biogenesis_disorder_2b_rhizomelic_chondrodysplasia_punctata_type_5 Peroxisome biogenesis disorder 2A (Zellweger);Peroxisome biogenesis disorder 2B;Rhizomelic chondrodysplasia punctata type 5 Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_2a_zellweger_rhizomelic_chondrodysplasia_punctata_type_5_peroxisome_biogenesis_disorder_2b Peroxisome biogenesis disorder 2A (Zellweger);Rhizomelic chondrodysplasia punctata type 5;Peroxisome biogenesis disorder 2B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_2b_peroxisome_biogenesis_disorder_2a_zellweger Peroxisome biogenesis disorder 2B;Peroxisome biogenesis disorder 2A (Zellweger) Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_2b_peroxisome_biogenesis_disorder_2a_zellweger_rhizomelic_chondrodysplasia_punctata_type_5 Peroxisome biogenesis disorder 2B;Peroxisome biogenesis disorder 2A (Zellweger);Rhizomelic chondrodysplasia punctata type 5 Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_2b_rhizomelic_chondrodysplasia_punctata_type_5_peroxisome_biogenesis_disorder_2a_zellweger Peroxisome biogenesis disorder 2B;Rhizomelic chondrodysplasia punctata type 5;Peroxisome biogenesis disorder 2A (Zellweger) Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_3a_zellweger_peroxisome_biogenesis_disorder_type_3b Peroxisome biogenesis disorder 3A (Zellweger);Peroxisome biogenesis disorder type 3B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_4a_zellweger_heimler_syndrome_2_peroxisome_biogenesis_disorder_4b Peroxisome biogenesis disorder 4A (Zellweger);Heimler syndrome 2;Peroxisome biogenesis disorder 4B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_4a_zellweger_peroxisome_biogenesis_disorder_4b Peroxisome biogenesis disorder 4A (Zellweger);Peroxisome biogenesis disorder 4B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_4a_zellweger_peroxisome_biogenesis_disorder_4b_heimler_syndrome_2 Peroxisome biogenesis disorder 4A (Zellweger);Peroxisome biogenesis disorder 4B;Heimler syndrome 2 Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_4b_peroxisome_biogenesis_disorder_4a_zellweger Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger) Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_4b_peroxisome_biogenesis_disorder_4a_zellweger_heimler_syndrome_2 Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4A (Zellweger);Heimler syndrome 2 Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_5a_zellweger_peroxisome_biogenesis_disorder_5b Peroxisome biogenesis disorder 5A (Zellweger);Peroxisome biogenesis disorder 5B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_5b_peroxisome_biogenesis_disorder_5a_zellweger Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5A (Zellweger) Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_6a_zellweger_peroxisome_biogenesis_disorder_6b Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_6b_peroxisome_biogenesis_disorder_6a_zellweger Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder 6A (Zellweger) Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_7a_zellweger_peroxisome_biogenesis_disorder_7b Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_7b_peroxisome_biogenesis_disorder_7a_zellweger Peroxisome biogenesis disorder 7B;Peroxisome biogenesis disorder 7A (Zellweger) Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_8a_zellweger_peroxisome_biogenesis_disorder_8b Peroxisome biogenesis disorder 8A (Zellweger);Peroxisome biogenesis disorder 8B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_8b_peroxisome_biogenesis_disorder_8a_zellweger Peroxisome biogenesis disorder 8B;Peroxisome biogenesis disorder 8A (Zellweger) Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_9b_phytanic_acid_storage_disease_rhizomelic_chondrodysplasia_punctata_type_1 Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1 Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_9b_rhizomelic_chondrodysplasia_punctata_type_1 Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1 Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_complementation_group_7 Peroxisome biogenesis disorder, complementation group 7 Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_complementation_group_k Peroxisome biogenesis disorder, complementation group K Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_due_to_pex16_defect Peroxisome biogenesis disorder due to PEX16 defect Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_due_to_pex1_defect Peroxisome biogenesis disorder due to PEX1 defect Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_due_to_pex5_defect Peroxisome biogenesis disorder due to PEX5 defect Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_type_1a Peroxisome biogenesis disorder type 1A Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_type_3b Peroxisome biogenesis disorder type 3B Supplemental_disease_name DISEASE_NAME:peroxisome_biogenesis_disorder_type_3b_peroxisome_biogenesis_disorder_3a_zellweger Peroxisome biogenesis disorder type 3B;Peroxisome biogenesis disorder 3A (Zellweger) Supplemental_disease_name DISEASE_NAME:perp_related_disorder PERP-related disorder Supplemental_disease_name DISEASE_NAME:perrault_syndrome_1 Perrault syndrome 1 Supplemental_disease_name DISEASE_NAME:perrault_syndrome_1_bifunctional_peroxisomal_enzyme_deficiency Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency Supplemental_disease_name DISEASE_NAME:perrault_syndrome_3 Perrault syndrome 3 Supplemental_disease_name DISEASE_NAME:perrault_syndrome_4 Perrault syndrome 4 Supplemental_disease_name DISEASE_NAME:perrault_syndrome_4_hydrops_lactic_acidosis_sideroblastic_anemia_multisystemic_failure_syndrome Perrault syndrome 4;Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome Supplemental_disease_name DISEASE_NAME:perrault_syndrome_5 Perrault syndrome 5 Supplemental_disease_name DISEASE_NAME:perrault_syndrome_5_infantile_onset_spinocerebellar_ataxia Perrault syndrome 5;Infantile onset spinocerebellar ataxia Supplemental_disease_name DISEASE_NAME:perrault_syndrome_5_infantile_onset_spinocerebellar_ataxia_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Perrault syndrome 5;Infantile onset spinocerebellar ataxia;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:perrault_syndrome_5_infantile_onset_spinocerebellar_ataxia_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3 Perrault syndrome 5;Infantile onset spinocerebellar ataxia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:perrault_syndrome_5_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3_infantile_onset_spinocerebellar_ataxia Perrault syndrome 5;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3;Infantile onset spinocerebellar ataxia Supplemental_disease_name DISEASE_NAME:perrault_syndrome_5_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3_infantile_onset_spinocerebellar_ataxia_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Perrault syndrome 5;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3;Infantile onset spinocerebellar ataxia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:perrault_syndrome_bifunctional_peroxisomal_enzyme_deficiency Perrault syndrome;Bifunctional peroxisomal enzyme deficiency Supplemental_disease_name DISEASE_NAME:perry_syndrome_amyotrophic_lateral_sclerosis_type_1 Perry syndrome;Amyotrophic lateral sclerosis type 1 Supplemental_disease_name DISEASE_NAME:perry_syndrome_amyotrophic_lateral_sclerosis_type_1_neuronopathy_distal_hereditary_motor_type_7b Perry syndrome;Amyotrophic lateral sclerosis type 1;Neuronopathy, distal hereditary motor, type 7B Supplemental_disease_name DISEASE_NAME:perry_syndrome_neuronopathy_distal_hereditary_motor_type_7b Perry syndrome;Neuronopathy, distal hereditary motor, type 7B Supplemental_disease_name DISEASE_NAME:perry_syndrome_neuronopathy_distal_hereditary_motor_type_7b_amyotrophic_lateral_sclerosis_type_1 Perry syndrome;Neuronopathy, distal hereditary motor, type 7B;Amyotrophic lateral sclerosis type 1 Supplemental_disease_name DISEASE_NAME:persistent_hyperplastic_primary_vitreous_autosomal_recessive Persistent hyperplastic primary vitreous, autosomal recessive Supplemental_disease_name DISEASE_NAME:persistent_mullerian_duct_syndrome_type_i Persistent mullerian duct syndrome, type I Supplemental_disease_name DISEASE_NAME:persistent_mullerian_duct_syndrome_type_ii Persistent mullerian duct syndrome, type II Supplemental_disease_name DISEASE_NAME:persistent_truncus_arteriosus Persistent truncus arteriosus Supplemental_disease_name DISEASE_NAME:pervasive_developmental_disorder_intellectual_developmental_disorder_with_abnormal_behavior_microcephaly_and_short_stature Pervasive developmental disorder;Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Supplemental_disease_name DISEASE_NAME:pervasive_developmental_disorder_intellectual_disability_autosomal_recessive_53 Pervasive developmental disorder;Intellectual disability, autosomal recessive 53 Supplemental_disease_name DISEASE_NAME:pes_cavus Pes cavus Supplemental_disease_name DISEASE_NAME:pes_cavus_hammertoe_distal_muscle_weakness_decreased_nerve_conduction_velocity_sensory_neuropathy Pes cavus;Hammertoe;Distal muscle weakness;Decreased nerve conduction velocity;Sensory neuropathy Supplemental_disease_name DISEASE_NAME:pes_cavus_hand_muscle_atrophy_peroneal_muscle_atrophy_distal_lower_limb_muscle_weakness Pes cavus;Hand muscle atrophy;Peroneal muscle atrophy;Distal lower limb muscle weakness Supplemental_disease_name DISEASE_NAME:pet100_related_disorder PET100-related disorder Supplemental_disease_name DISEASE_NAME:pet117_related_disorder PET117-related disorder Supplemental_disease_name DISEASE_NAME:peutz_jeghers_syndrome_familial_pancreatic_carcinoma Peutz-Jeghers syndrome;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:peutz_jeghers_syndrome_familial_pancreatic_carcinoma_germ_cell_tumor_of_testis_melanoma_cutaneous_malignant_susceptibility_to_1 Peutz-Jeghers syndrome;Familial pancreatic carcinoma;Germ cell tumor of testis;Melanoma, cutaneous malignant, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:peutz_jeghers_syndrome_familial_pancreatic_carcinoma_melanoma_cutaneous_malignant_susceptibility_to_1_germ_cell_tumor_of_testis Peutz-Jeghers syndrome;Familial pancreatic carcinoma;Melanoma, cutaneous malignant, susceptibility to, 1;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:peutz_jeghers_syndrome_germ_cell_tumor_of_testis_melanoma_cutaneous_malignant_susceptibility_to_1_familial_pancreatic_carcinoma Peutz-Jeghers syndrome;Germ cell tumor of testis;Melanoma, cutaneous malignant, susceptibility to, 1;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:peutz_jeghers_syndrome_malignant_tumor_of_testis_carcinoma_of_pancreas Peutz-Jeghers syndrome;Malignant tumor of testis;Carcinoma of pancreas Supplemental_disease_name DISEASE_NAME:peutz_jeghers_syndrome_melanoma_cutaneous_malignant_susceptibility_to_1_familial_pancreatic_carcinoma_germ_cell_tumor_of_testis Peutz-Jeghers syndrome;Melanoma, cutaneous malignant, susceptibility to, 1;Familial pancreatic carcinoma;Germ cell tumor of testis Supplemental_disease_name DISEASE_NAME:peutz_jeghers_syndrome_melanoma_cutaneous_malignant_susceptibility_to_1_germ_cell_tumor_of_testis_familial_pancreatic_carcinoma Peutz-Jeghers syndrome;Melanoma, cutaneous malignant, susceptibility to, 1;Germ cell tumor of testis;Familial pancreatic carcinoma Supplemental_disease_name DISEASE_NAME:pex10_related_disorder PEX10-related disorder Supplemental_disease_name DISEASE_NAME:pex11b_related_disorder PEX11B-related disorder Supplemental_disease_name DISEASE_NAME:pex12_related_disorder PEX12-related disorder Supplemental_disease_name DISEASE_NAME:pex13_related_disorder PEX13-related disorder Supplemental_disease_name DISEASE_NAME:pex14_related_disorder PEX14-related disorder Supplemental_disease_name DISEASE_NAME:pex16_related_disorder PEX16-related disorder Supplemental_disease_name DISEASE_NAME:pex19_related_disorder PEX19-related disorder Supplemental_disease_name DISEASE_NAME:pex1_related_disorder PEX1-related disorder Supplemental_disease_name DISEASE_NAME:pex1_related_peroxisomal_biogenesis_disorder PEX1-related Peroxisomal Biogenesis Disorder Supplemental_disease_name DISEASE_NAME:pex1_related_zellweger_spectrum_disorder PEX1-related Zellweger spectrum disorder Supplemental_disease_name DISEASE_NAME:pex26_related_disorder PEX26-related disorder Supplemental_disease_name DISEASE_NAME:pex2_related_disorder PEX2-related disorder Supplemental_disease_name DISEASE_NAME:pex3_related_disorder PEX3-related disorder Supplemental_disease_name DISEASE_NAME:pex5_related_disorder PEX5-related disorder Supplemental_disease_name DISEASE_NAME:pex6_polymorphism PEX6 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:pex6_related_disorder PEX6-related disorder Supplemental_disease_name DISEASE_NAME:pex7_related_disorder PEX7-related disorder Supplemental_disease_name DISEASE_NAME:pfeiffer_syndrome_crouzon_syndrome Pfeiffer syndrome;Crouzon syndrome Supplemental_disease_name DISEASE_NAME:pfeiffer_syndrome_hypogonadotropic_hypogonadism_2_with_or_without_anosmia Pfeiffer syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia Supplemental_disease_name DISEASE_NAME:pfeiffer_syndrome_hypogonadotropic_hypogonadism_2_with_or_without_anosmia_jackson_weiss_syndrome Pfeiffer syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia;Jackson-Weiss syndrome Supplemental_disease_name DISEASE_NAME:pfeiffer_syndrome_type_1 Pfeiffer syndrome type 1 Supplemental_disease_name DISEASE_NAME:pfeiffer_syndrome_type_3 Pfeiffer syndrome type 3 Supplemental_disease_name DISEASE_NAME:pfkl_related_disorder PFKL-related disorder Supplemental_disease_name DISEASE_NAME:pfkm_related_disorder PFKM-related disorder Supplemental_disease_name DISEASE_NAME:pfkp_related_disorder PFKP-related disorder Supplemental_disease_name DISEASE_NAME:pfn1_related_disorder PFN1-related disorder Supplemental_disease_name DISEASE_NAME:pgam2_related_disorder PGAM2-related disorder Supplemental_disease_name DISEASE_NAME:pgap1_related_disorder PGAP1-related disorder Supplemental_disease_name DISEASE_NAME:pgap2_related_disorder PGAP2-related disorder Supplemental_disease_name DISEASE_NAME:pgap3_related_disorder PGAP3-related disorder Supplemental_disease_name DISEASE_NAME:pgbd3_related_disorder PGBD3-related disorder Supplemental_disease_name DISEASE_NAME:pgk1_related_disorder PGK1-related disorder Supplemental_disease_name DISEASE_NAME:pglyrp3_associated_inflamatory_bowel_disease PGLYRP3-associated inflamatory bowel disease Supplemental_disease_name DISEASE_NAME:pgm1_congenital_disorder_of_glycosylation PGM1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:pgm1_related_disorder PGM1-related disorder Supplemental_disease_name DISEASE_NAME:pgm2l1_related_disorder PGM2L1-related disorder Supplemental_disease_name DISEASE_NAME:pgm3_related_disorder PGM3-related disorder Supplemental_disease_name DISEASE_NAME:pgrmc1_related_disorder PGRMC1-related disorder Supplemental_disease_name DISEASE_NAME:pgs1_related_disorder PGS1-related disorder Supplemental_disease_name DISEASE_NAME:phactr1_related_disorder PHACTR1-related disorder Supplemental_disease_name DISEASE_NAME:phactr1_related_neurodevelopmental_condition PHACTR1-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:pharmacoresistant_multifocal_epilepsy pharmacoresistant multifocal epilepsy Supplemental_disease_name DISEASE_NAME:phb1_related_disorder PHB1-related disorder Supplemental_disease_name DISEASE_NAME:phc1_related_disorder PHC1-related disorder Supplemental_disease_name DISEASE_NAME:phc2_related_disorder PHC2-related disorder Supplemental_disease_name DISEASE_NAME:phelan_mcdermid_syndrome_schizophrenia_15 Phelan-McDermid syndrome;Schizophrenia 15 Supplemental_disease_name DISEASE_NAME:phenprocoumon_response_dosage phenprocoumon response - Dosage Supplemental_disease_name DISEASE_NAME:phenprocoumon_response_toxicity phenprocoumon response - Toxicity Supplemental_disease_name DISEASE_NAME:phenylthiocarbamide_tasting Phenylthiocarbamide tasting Supplemental_disease_name DISEASE_NAME:phenytoin_response Phenytoin response Supplemental_disease_name DISEASE_NAME:pheochromocytoma_and_paraganglioma Pheochromocytoma and Paraganglioma Supplemental_disease_name DISEASE_NAME:pheochromocytoma_carney_stratakis_syndrome_cowden_syndrome_3_paragangliomas_with_sensorineural_hearing_loss Pheochromocytoma;Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas with sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:pheochromocytoma_carney_stratakis_syndrome_cowden_syndrome_3_pheochromocytoma_paraganglioma_syndrome_1 Pheochromocytoma;Carney-Stratakis syndrome;Cowden syndrome 3;Pheochromocytoma/paraganglioma syndrome 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_carney_stratakis_syndrome_mitochondrial_complex_2_deficiency_nuclear_type_3_pheochromocytoma_paraganglioma_syndrome_1 Pheochromocytoma;Carney-Stratakis syndrome;Mitochondrial complex 2 deficiency, nuclear type 3;Pheochromocytoma/paraganglioma syndrome 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_carney_stratakis_syndrome_paragangliomas_with_sensorineural_hearing_loss_cowden_syndrome_3 Pheochromocytoma;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_1_cowden_syndrome_3 Pheochromocytoma;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 1;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_1_mitochondrial_complex_2_deficiency_nuclear_type_3 Pheochromocytoma;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 1;Mitochondrial complex 2 deficiency, nuclear type 3 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4 Pheochromocytoma;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_chuvash_polycythemia_nonpapillary_renal_cell_carcinoma_von_hippel_lindau_syndrome Pheochromocytoma;Chuvash polycythemia;Nonpapillary renal cell carcinoma;Von Hippel-Lindau syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_chuvash_polycythemia_von_hippel_lindau_syndrome_nonpapillary_renal_cell_carcinoma Pheochromocytoma;Chuvash polycythemia;Von Hippel-Lindau syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:pheochromocytoma_cowden_syndrome_3_carney_stratakis_syndrome_paragangliomas_with_sensorineural_hearing_loss Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:pheochromocytoma_cowden_syndrome_3_paragangliomas_with_sensorineural_hearing_loss_carney_stratakis_syndrome Pheochromocytoma;Cowden syndrome 3;Paragangliomas with sensorineural hearing loss;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a Pheochromocytoma;Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:pheochromocytoma_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b Pheochromocytoma;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:pheochromocytoma_gastrointestinal_stromal_tumor_pheochromocytoma_paraganglioma_syndrome_4 Pheochromocytoma;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_hirschsprung_disease_susceptibility_to_1_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b Pheochromocytoma;Hirschsprung disease, susceptibility to, 1;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:pheochromocytoma_hirschsprung_disease_susceptibility_to_1_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a Pheochromocytoma;Hirschsprung disease, susceptibility to, 1;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:pheochromocytoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2b Pheochromocytoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:pheochromocytoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma Pheochromocytoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:pheochromocytoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a Pheochromocytoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:pheochromocytoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma Pheochromocytoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:pheochromocytoma_mitochondrial_complex_2_deficiency_nuclear_type_4_gastrointestinal_stromal_tumor_carney_stratakis_syndrome_pheochromocytoma_paraganglioma_syndrome_4 Pheochromocytoma;Mitochondrial complex 2 deficiency, nuclear type 4;Gastrointestinal stromal tumor;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_multiple_endocrine_neoplasia_type_2a_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2b_hirschsprung_disease_susceptibility_to_1 Pheochromocytoma;Multiple endocrine neoplasia type 2A;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2B;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2b Pheochromocytoma;Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2B Supplemental_disease_name DISEASE_NAME:pheochromocytoma_multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma Pheochromocytoma;Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma Supplemental_disease_name DISEASE_NAME:pheochromocytoma_multiple_endocrine_neoplasia_type_2a_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1 Pheochromocytoma;Multiple endocrine neoplasia type 2A;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_hirschsprung_disease_susceptibility_to_1_multiple_endocrine_neoplasia_type_2a Pheochromocytoma;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:pheochromocytoma_multiple_endocrine_neoplasia_type_2b_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a_hirschsprung_disease_susceptibility_to_1 Pheochromocytoma;Multiple endocrine neoplasia type 2B;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A;Hirschsprung disease, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_multiple_endocrine_neoplasia_type_2b_hirschsprung_disease_susceptibility_to_1_familial_medullary_thyroid_carcinoma_multiple_endocrine_neoplasia_type_2a Pheochromocytoma;Multiple endocrine neoplasia type 2B;Hirschsprung disease, susceptibility to, 1;Familial medullary thyroid carcinoma;Multiple endocrine neoplasia type 2A Supplemental_disease_name DISEASE_NAME:pheochromocytoma_neuroblastoma_susceptibility_to_1_charcot_marie_tooth_disease_type_2a1 Pheochromocytoma;Neuroblastoma, susceptibility to, 1;Charcot-Marie-Tooth disease type 2A1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_nonpapillary_renal_cell_carcinoma_chuvash_polycythemia_von_hippel_lindau_syndrome Pheochromocytoma;Nonpapillary renal cell carcinoma;Chuvash polycythemia;Von Hippel-Lindau syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma Pheochromocytoma;Paraganglioma Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_1_carney_stratakis_syndrome_mitochondrial_complex_2_deficiency_nuclear_type_3 Pheochromocytoma/paraganglioma syndrome 1;Carney-Stratakis syndrome;Mitochondrial complex 2 deficiency, nuclear type 3 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_1_mitochondrial_complex_2_deficiency_nuclear_type_3_carney_stratakis_syndrome Pheochromocytoma/paraganglioma syndrome 1;Mitochondrial complex 2 deficiency, nuclear type 3;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_1_pheochromocytoma_carney_stratakis_syndrome_mitochondrial_complex_ii_deficiency_nuclear_type_1 Pheochromocytoma/paraganglioma syndrome 1;Pheochromocytoma;Carney-Stratakis syndrome;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_1_pheochromocytoma_mitochondrial_complex_ii_deficiency_nuclear_type_1_carney_stratakis_syndrome Pheochromocytoma/paraganglioma syndrome 1;Pheochromocytoma;Mitochondrial complex II deficiency, nuclear type 1;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_3_carney_stratakis_syndrome_gastrointestinal_stromal_tumor Pheochromocytoma/paraganglioma syndrome 3;Carney-Stratakis syndrome;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_3_gastrointestinal_stromal_tumor Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_3_gastrointestinal_stromal_tumor_carney_stratakis_syndrome Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_4_carney_stratakis_syndrome_mitochondrial_complex_2_deficiency_nuclear_type_4_gastrointestinal_stromal_tumor Pheochromocytoma/paraganglioma syndrome 4;Carney-Stratakis syndrome;Mitochondrial complex 2 deficiency, nuclear type 4;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_4_gastrointestinal_stromal_tumor_carney_stratakis_syndrome_mitochondrial_complex_2_deficiency_nuclear_type_4 Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Carney-Stratakis syndrome;Mitochondrial complex 2 deficiency, nuclear type 4 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_4_gastrointestinal_stromal_tumor_pheochromocytoma Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_4_mitochondrial_complex_2_deficiency_nuclear_type_4_gastrointestinal_stromal_tumor_carney_stratakis_syndrome Pheochromocytoma/paraganglioma syndrome 4;Mitochondrial complex 2 deficiency, nuclear type 4;Gastrointestinal stromal tumor;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_4_pheochromocytoma Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_4_pheochromocytoma_gastrointestinal_stromal_tumor Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_5_leigh_syndrome_dilated_cardiomyopathy_1gg_mitochondrial_complex_ii_deficiency_nuclear_type_1 Pheochromocytoma/paraganglioma syndrome 5;Leigh syndrome;Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_5_mitochondrial_complex_ii_deficiency_nuclear_type_1 Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_5_mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Neurodegeneration with ataxia and late-onset optic atrophy Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_5_mitochondrial_complex_ii_deficiency_nuclear_type_1_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_dilated_cardiomyopathy_1gg Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1;Neurodegeneration with ataxia and late-onset optic atrophy;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_5_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_dilated_cardiomyopathy_1gg_mitochondrial_complex_ii_deficiency_nuclear_type_1 Pheochromocytoma/paraganglioma syndrome 5;Neurodegeneration with ataxia and late-onset optic atrophy;Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paraganglioma_syndrome_5_neurodegeneration_with_ataxia_and_late_onset_optic_atrophy_mitochondrial_complex_ii_deficiency_nuclear_type_1_dilated_cardiomyopathy_1gg Pheochromocytoma/paraganglioma syndrome 5;Neurodegeneration with ataxia and late-onset optic atrophy;Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paragangliomas_with_sensorineural_hearing_loss_carney_stratakis_syndrome_cowden_syndrome_3 Pheochromocytoma;Paragangliomas with sensorineural hearing loss;Carney-Stratakis syndrome;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_paragangliomas_with_sensorineural_hearing_loss_cowden_syndrome_3_carney_stratakis_syndrome Pheochromocytoma;Paragangliomas with sensorineural hearing loss;Cowden syndrome 3;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_1 Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 1 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_1_carney_stratakis_syndrome Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 1;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_1_carney_stratakis_syndrome_cowden_syndrome_3 Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 1;Carney-Stratakis syndrome;Cowden syndrome 3 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_1_carney_stratakis_syndrome_mitochondrial_complex_2_deficiency_nuclear_type_3 Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 1;Carney-Stratakis syndrome;Mitochondrial complex 2 deficiency, nuclear type 3 Supplemental_disease_name DISEASE_NAME:pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_1_mitochondrial_complex_2_deficiency_nuclear_type_3_carney_stratakis_syndrome Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 1;Mitochondrial complex 2 deficiency, nuclear type 3;Carney-Stratakis syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_pheochromocytoma_paraganglioma_syndrome_4_gastrointestinal_stromal_tumor Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:pheochromocytoma_polydactyly_macrocephaly_syndrome Pheochromocytoma;Polydactyly-macrocephaly syndrome Supplemental_disease_name DISEASE_NAME:pheochromocytoma_susceptibility_to Pheochromocytoma, susceptibility to Supplemental_disease_name DISEASE_NAME:pheochromocytoma_von_hippel_lindau_syndrome_chuvash_polycythemia_nonpapillary_renal_cell_carcinoma Pheochromocytoma;Von Hippel-Lindau syndrome;Chuvash polycythemia;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:pheochromocytoma_von_hippel_lindau_syndrome_nonpapillary_renal_cell_carcinoma_chuvash_polycythemia Pheochromocytoma;Von Hippel-Lindau syndrome;Nonpapillary renal cell carcinoma;Chuvash polycythemia Supplemental_disease_name DISEASE_NAME:phex_related_disorder PHEX-related disorder Supplemental_disease_name DISEASE_NAME:phf11_related_disorder PHF11-related disorder Supplemental_disease_name DISEASE_NAME:phf12_related_disorder PHF12-related disorder Supplemental_disease_name DISEASE_NAME:phf21a_related_disorder PHF21A-related disorder Supplemental_disease_name DISEASE_NAME:phf2_related_disorder PHF2-related disorder Supplemental_disease_name DISEASE_NAME:phf3_related_disorder PHF3-related disorder Supplemental_disease_name DISEASE_NAME:phf5a_related_disorder PHF5A-related disorder Supplemental_disease_name DISEASE_NAME:phf6_related_disorder PHF6-related disorder Supplemental_disease_name DISEASE_NAME:phf7_related_disorder PHF7-related disorder Supplemental_disease_name DISEASE_NAME:phf8_related_disorder PHF8-related disorder Supplemental_disease_name DISEASE_NAME:phgdh_deficiency_neu_laxova_syndrome_1 PHGDH deficiency;Neu-Laxova syndrome 1 Supplemental_disease_name DISEASE_NAME:phgdh_related_disorder PHGDH-related disorder Supplemental_disease_name DISEASE_NAME:phip_related_behavioral_problems_intellectual_disability_obesity_dysmorphic_features_syndrome PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Supplemental_disease_name DISEASE_NAME:phip_related_disorder PHIP-related disorder Supplemental_disease_name DISEASE_NAME:phka1_related_disorder PHKA1-related disorder Supplemental_disease_name DISEASE_NAME:phka2_related_disorder PHKA2-related disorder Supplemental_disease_name DISEASE_NAME:phkb_related_disorder PHKB-related disorder Supplemental_disease_name DISEASE_NAME:phkg2_related_disorder PHKG2-related disorder Supplemental_disease_name DISEASE_NAME:phonic_tics Phonic tics Supplemental_disease_name DISEASE_NAME:phosphate_transport_defect Phosphate transport defect Supplemental_disease_name DISEASE_NAME:phosphate_transport_defect_congenital_disorder_of_glycosylation_type_iiw_glucose_6_phosphate_transport_defect Phosphate transport defect;Congenital disorder of glycosylation, type IIw;Glucose-6-phosphate transport defect Supplemental_disease_name DISEASE_NAME:phosphate_transport_defect_glucose_6_phosphate_transport_defect Phosphate transport defect;Glucose-6-phosphate transport defect Supplemental_disease_name DISEASE_NAME:phosphate_transport_defect_glucose_6_phosphate_transport_defect_congenital_disorder_of_glycosylation_type_iiw Phosphate transport defect;Glucose-6-phosphate transport defect;Congenital disorder of glycosylation, type IIw Supplemental_disease_name DISEASE_NAME:phosphoenolpyruvate_carboxykinase_deficiency_cytosolic Phosphoenolpyruvate carboxykinase deficiency, cytosolic Supplemental_disease_name DISEASE_NAME:phosphoenolpyruvate_carboxykinase_deficiency_mitochondrial Phosphoenolpyruvate carboxykinase deficiency, mitochondrial Supplemental_disease_name DISEASE_NAME:phosphoenolpyruvate_carboxykinase_gtp_deficiency Phosphoenolpyruvate carboxykinase (GTP) deficiency Supplemental_disease_name DISEASE_NAME:phosphoglycerate_kinase_electrophoretic_variant_pgk_ii Phosphoglycerate kinase electrophoretic variant PGK II Supplemental_disease_name DISEASE_NAME:phosphohydroxylysinuria Phosphohydroxylysinuria Supplemental_disease_name DISEASE_NAME:phosphoribosylaminoimidazole_carboxylase_deficiency Phosphoribosylaminoimidazole carboxylase deficiency Supplemental_disease_name DISEASE_NAME:phosphoribosylformylglycineamidine_synthase_deficiency Phosphoribosylformylglycineamidine synthase deficiency Supplemental_disease_name DISEASE_NAME:phosphoribosylpyrophosphate_synthetase_superactivity_charcot_marie_tooth_disease_x_linked_recessive_5_hearing_loss_x_linked_1_arts_syndrome Phosphoribosylpyrophosphate synthetase superactivity;Charcot-Marie-Tooth disease X-linked recessive 5;Hearing loss, X-linked 1;Arts syndrome Supplemental_disease_name DISEASE_NAME:phox2a_related_disorder PHOX2A-related disorder Supplemental_disease_name DISEASE_NAME:phox2b_related_disorder PHOX2B-related disorder Supplemental_disease_name DISEASE_NAME:php_type_1a_pphp PHP Type 1a / PPHP Supplemental_disease_name DISEASE_NAME:phrf1_related_disorder PHRF1-related disorder Supplemental_disease_name DISEASE_NAME:phyh_related_disorder PHYH-related disorder Supplemental_disease_name DISEASE_NAME:phykpl_related_disorder PHYKPL-related disorder Supplemental_disease_name DISEASE_NAME:phytanic_acid_storage_disease Phytanic acid storage disease Supplemental_disease_name DISEASE_NAME:phytanic_acid_storage_disease_peroxisome_biogenesis_disorder_9b_rhizomelic_chondrodysplasia_punctata_type_1 Phytanic acid storage disease;Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1 Supplemental_disease_name DISEASE_NAME:phytanic_acid_storage_disease_rhizomelic_chondrodysplasia_punctata_type_1_peroxisome_biogenesis_disorder_9b Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1;Peroxisome biogenesis disorder 9B Supplemental_disease_name DISEASE_NAME:phytanoyl_coa_hydroxylase_deficiency Phytanoyl-CoA hydroxylase deficiency Supplemental_disease_name DISEASE_NAME:pi4ka_related_disorder PI4KA-related disorder Supplemental_disease_name DISEASE_NAME:pi4kb_related_disorder PI4KB-related disorder Supplemental_disease_name DISEASE_NAME:pi_b_alhambra PI B(ALHAMBRA) Supplemental_disease_name DISEASE_NAME:pi_christchurch PI CHRISTCHURCH Supplemental_disease_name DISEASE_NAME:pi_f PI F Supplemental_disease_name DISEASE_NAME:pi_i PI I Supplemental_disease_name DISEASE_NAME:pi_kalsheker_poller PI KALSHEKER-POLLER Supplemental_disease_name DISEASE_NAME:pi_m1_ala213 PI M1-ALA213 Supplemental_disease_name DISEASE_NAME:pi_m1a PI, M1A Supplemental_disease_name DISEASE_NAME:pi_m1v PI, M1V Supplemental_disease_name DISEASE_NAME:pi_m2 PI M2 Supplemental_disease_name DISEASE_NAME:pi_m3 PI M3 Supplemental_disease_name DISEASE_NAME:pi_m4 PI M4 Supplemental_disease_name DISEASE_NAME:pi_m_heerlen PI M(HEERLEN) Supplemental_disease_name DISEASE_NAME:pi_m_malton PI M(MALTON) Supplemental_disease_name DISEASE_NAME:pi_m_mineral_springs PI M(MINERAL SPRINGS) Supplemental_disease_name DISEASE_NAME:pi_m_procida PI M(PROCIDA) Supplemental_disease_name DISEASE_NAME:pi_null_bellingham PI NULL(BELLINGHAM) Supplemental_disease_name DISEASE_NAME:pi_null_bolton PI NULL(BOLTON) Supplemental_disease_name DISEASE_NAME:pi_null_cardiff PI NULL(CARDIFF) Supplemental_disease_name DISEASE_NAME:pi_null_devon PI NULL(DEVON) Supplemental_disease_name DISEASE_NAME:pi_null_hong_kong_1 PI NULL(HONG KONG 1) Supplemental_disease_name DISEASE_NAME:pi_null_hong_kong_2 PI NULL(HONG KONG 2) Supplemental_disease_name DISEASE_NAME:pi_null_ludwigshafen PI NULL(LUDWIGSHAFEN) Supplemental_disease_name DISEASE_NAME:pi_null_mattawa PI NULL(MATTAWA) Supplemental_disease_name DISEASE_NAME:pi_null_newport PI NULL(NEWPORT) Supplemental_disease_name DISEASE_NAME:pi_null_procida PI NULL(PROCIDA) Supplemental_disease_name DISEASE_NAME:pi_null_riedenburg PI NULL(RIEDENBURG) Supplemental_disease_name DISEASE_NAME:pi_null_west PI NULL(WEST) Supplemental_disease_name DISEASE_NAME:pi_p_duarte PI P(DUARTE) Supplemental_disease_name DISEASE_NAME:pi_p_lowell PI P(LOWELL) Supplemental_disease_name DISEASE_NAME:pi_p_st_albans PI P(ST. ALBANS) Supplemental_disease_name DISEASE_NAME:pi_q0_bellingham PI Q0(BELLINGHAM) Supplemental_disease_name DISEASE_NAME:pi_q0_bolton PI Q0(BOLTON) Supplemental_disease_name DISEASE_NAME:pi_q0_cardiff PI Q0(CARDIFF) Supplemental_disease_name DISEASE_NAME:pi_q0_devon PI Q0(DEVON) Supplemental_disease_name DISEASE_NAME:pi_q0_granite_falls PI Q0(GRANITE FALLS) Supplemental_disease_name DISEASE_NAME:pi_q0_hong_kong_1 PI Q0(HONG KONG 1) Supplemental_disease_name DISEASE_NAME:pi_q0_ludwigshafen PI Q0(LUDWIGSHAFEN) Supplemental_disease_name DISEASE_NAME:pi_q0_newport PI Q0(NEWPORT) Supplemental_disease_name DISEASE_NAME:pi_s PI S Supplemental_disease_name DISEASE_NAME:pi_s_iiyama PI S(IIYAMA) Supplemental_disease_name DISEASE_NAME:pi_v_munich PI V(MUNICH) Supplemental_disease_name DISEASE_NAME:pi_w_bethesda PI W(BETHESDA) Supplemental_disease_name DISEASE_NAME:pi_x PI X Supplemental_disease_name DISEASE_NAME:pi_z PI Z Supplemental_disease_name DISEASE_NAME:pi_z_augsburg PI Z(AUGSBURG) Supplemental_disease_name DISEASE_NAME:pi_z_bristol PI Z(BRISTOL) Supplemental_disease_name DISEASE_NAME:pi_z_tun PI Z(TUN) Supplemental_disease_name DISEASE_NAME:pi_z_wrexham PI Z(WREXHAM) Supplemental_disease_name DISEASE_NAME:pias4_related_disorder PIAS4-related disorder Supplemental_disease_name DISEASE_NAME:pibf1_related_disorder PIBF1-related disorder Supplemental_disease_name DISEASE_NAME:picalm_related_disorder PICALM-related disorder Supplemental_disease_name DISEASE_NAME:pick1_related_disorder PICK1-related disorder Supplemental_disease_name DISEASE_NAME:pick_disease_acne_inversa_familial_3_alzheimer_disease_3_frontotemporal_dementia Pick disease;Acne inversa, familial, 3;Alzheimer disease 3;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:pick_disease_acne_inversa_familial_3_frontotemporal_dementia_alzheimer_disease_3 Pick disease;Acne inversa, familial, 3;Frontotemporal dementia;Alzheimer disease 3 Supplemental_disease_name DISEASE_NAME:pick_disease_alzheimer_disease_3_acne_inversa_familial_3_frontotemporal_dementia Pick disease;Alzheimer disease 3;Acne inversa, familial, 3;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:pick_disease_alzheimer_disease_3_acne_inversa_familial_3_frontotemporal_dementia_dilated_cardiomyopathy_1u Pick disease;Alzheimer disease 3;Acne inversa, familial, 3;Frontotemporal dementia;Dilated cardiomyopathy 1U Supplemental_disease_name DISEASE_NAME:pick_disease_alzheimer_disease_3_frontotemporal_dementia_acne_inversa_familial_3 Pick disease;Alzheimer disease 3;Frontotemporal dementia;Acne inversa, familial, 3 Supplemental_disease_name DISEASE_NAME:pick_disease_dilated_cardiomyopathy_1u_acne_inversa_familial_3_alzheimer_disease_3_frontotemporal_dementia Pick disease;Dilated cardiomyopathy 1U;Acne inversa, familial, 3;Alzheimer disease 3;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:pick_disease_frontotemporal_dementia_acne_inversa_familial_3_alzheimer_disease_3 Pick disease;Frontotemporal dementia;Acne inversa, familial, 3;Alzheimer disease 3 Supplemental_disease_name DISEASE_NAME:pick_disease_frontotemporal_dementia_alzheimer_disease_3_acne_inversa_familial_3 Pick disease;Frontotemporal dementia;Alzheimer disease 3;Acne inversa, familial, 3 Supplemental_disease_name DISEASE_NAME:pick_disease_frontotemporal_dementia_progressive_supranuclear_palsy_parkinsonism_syndrome_supranuclear_palsy_progressive_1_parkinson_disease_late_onset Pick disease;Frontotemporal dementia;Progressive supranuclear palsy-parkinsonism syndrome;Supranuclear palsy, progressive, 1;Parkinson disease, late-onset Supplemental_disease_name DISEASE_NAME:pick_disease_of_the_brain Pick disease of the brain Supplemental_disease_name DISEASE_NAME:pick_disease_progressive_supranuclear_ophthalmoplegia_parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome_frontotemporal_dementia Pick disease;Progressive supranuclear ophthalmoplegia;Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:pick_disease_supranuclear_palsy_progressive_1_frontotemporal_dementia_parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome Pick disease;Supranuclear palsy, progressive, 1;Frontotemporal dementia;Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome Supplemental_disease_name DISEASE_NAME:pick_disease_supranuclear_palsy_progressive_1_parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome_frontotemporal_dementia Pick disease;Supranuclear palsy, progressive, 1;Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome;Frontotemporal dementia Supplemental_disease_name DISEASE_NAME:pid1_related_disorder PID1-related disorder Supplemental_disease_name DISEASE_NAME:pidd1_associated_neurodevelopmental_disorder PIDD1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:pidd1_related_disorder PIDD1-related disorder Supplemental_disease_name DISEASE_NAME:piebaldism_acute_myeloid_leukemia_gastrointestinal_stromal_tumor_germ_cell_tumor_of_testis_cutaneous_mastocytosis Piebaldism;Acute myeloid leukemia;Gastrointestinal stromal tumor;Germ cell tumor of testis;Cutaneous mastocytosis Supplemental_disease_name DISEASE_NAME:piebaldism_acute_myeloid_leukemia_malignant_tumor_of_testis_gastrointestinal_stromal_tumor_mastocytosis Piebaldism;Acute myeloid leukemia;Malignant tumor of testis;Gastrointestinal stromal tumor;Mastocytosis Supplemental_disease_name DISEASE_NAME:piebaldism_cutaneous_mastocytosis_acute_myeloid_leukemia_germ_cell_tumor_of_testis_gastrointestinal_stromal_tumor Piebaldism;Cutaneous mastocytosis;Acute myeloid leukemia;Germ cell tumor of testis;Gastrointestinal stromal tumor Supplemental_disease_name DISEASE_NAME:piebaldism_cutaneous_mastocytosis_gastrointestinal_stromal_tumor_germ_cell_tumor_of_testis_acute_myeloid_leukemia Piebaldism;Cutaneous mastocytosis;Gastrointestinal stromal tumor;Germ cell tumor of testis;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:piebaldism_germ_cell_tumor_of_testis_acute_myeloid_leukemia_gastrointestinal_stromal_tumor_cutaneous_mastocytosis Piebaldism;Germ cell tumor of testis;Acute myeloid leukemia;Gastrointestinal stromal tumor;Cutaneous mastocytosis Supplemental_disease_name DISEASE_NAME:piebaldism_mastocytosis Piebaldism;Mastocytosis Supplemental_disease_name DISEASE_NAME:piebaldism_progressive Piebaldism, progressive Supplemental_disease_name DISEASE_NAME:piebaldism_with_sensorineural_deafness Piebaldism with sensorineural deafness Supplemental_disease_name DISEASE_NAME:pierpont_syndrome_intellectual_disability_autosomal_dominant_41 Pierpont syndrome;Intellectual disability, autosomal dominant 41 Supplemental_disease_name DISEASE_NAME:pierre_robin_like_syndrome Pierre Robin-like syndrome Supplemental_disease_name DISEASE_NAME:pierson_syndrome_congenital_myasthenic_syndrome_lamb2_related_infantile_onset_nephrotic_syndrome Pierson syndrome;Congenital myasthenic syndrome;LAMB2-related infantile-onset nephrotic syndrome Supplemental_disease_name DISEASE_NAME:pierson_syndrome_focal_and_segmental_glomerulosclerosis Pierson syndrome;focal and segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:pierson_syndrome_lamb2_related_infantile_onset_nephrotic_syndrome Pierson syndrome;LAMB2-related infantile-onset nephrotic syndrome Supplemental_disease_name DISEASE_NAME:pierson_syndrome_lamb2_related_infantile_onset_nephrotic_syndrome_congenital_myasthenic_syndrome Pierson syndrome;LAMB2-related infantile-onset nephrotic syndrome;Congenital myasthenic syndrome Supplemental_disease_name DISEASE_NAME:piezo1_related_disorder PIEZO1-related disorder Supplemental_disease_name DISEASE_NAME:piezo2_related_disorder PIEZO2-related disorder Supplemental_disease_name DISEASE_NAME:piga_related_disorder PIGA-related disorder Supplemental_disease_name DISEASE_NAME:pigb_related_disorder PIGB-related disorder Supplemental_disease_name DISEASE_NAME:pigc_related_disorder PIGC-related disorder Supplemental_disease_name DISEASE_NAME:pigf_related_condition PIGF-related condition Supplemental_disease_name DISEASE_NAME:pigg_related_disorder PIGG-related disorder Supplemental_disease_name DISEASE_NAME:pigg_related_neurodevelopmental_disorder PIGG-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:pigh_related_disorder PIGH-related disorder Supplemental_disease_name DISEASE_NAME:pigl_related_disorder PIGL-related disorder Supplemental_disease_name DISEASE_NAME:pigm_related_disorder PIGM-related disorder Supplemental_disease_name DISEASE_NAME:pigmentary_pallidal_degeneration_hypoprebetalipoproteinemia_acanthocytosis_retinitis_pigmentosa_and_pallidal_degeneration Pigmentary pallidal degeneration;Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Supplemental_disease_name DISEASE_NAME:pigmentary_retinal_dystrophy_bothnia_retinal_dystrophy_newfoundland_cone_rod_dystrophy Pigmentary retinal dystrophy;Bothnia retinal dystrophy;Newfoundland cone-rod dystrophy Supplemental_disease_name DISEASE_NAME:pigmentary_retinal_dystrophy_congenital_stationary_night_blindness_autosomal_dominant_1_retinitis_pigmentosa_4 Pigmentary retinal dystrophy;Congenital stationary night blindness autosomal dominant 1;Retinitis pigmentosa 4 Supplemental_disease_name DISEASE_NAME:pigmentary_retinal_dystrophy_patterned_macular_dystrophy_1_vitelliform_macular_dystrophy_3_retinitis_pigmentosa_7_choroidal_dystrophy_central_areolar_2 Pigmentary retinal dystrophy;Patterned macular dystrophy 1;Vitelliform macular dystrophy 3;Retinitis pigmentosa 7;Choroidal dystrophy, central areolar 2 Supplemental_disease_name DISEASE_NAME:pigmentary_retinal_dystrophy_vitelliform_macular_dystrophy_3_choroidal_dystrophy_central_areolar_2_retinitis_pigmentosa_7_patterned_macular_dystrophy_1 Pigmentary retinal dystrophy;Vitelliform macular dystrophy 3;Choroidal dystrophy, central areolar 2;Retinitis pigmentosa 7;Patterned macular dystrophy 1 Supplemental_disease_name DISEASE_NAME:pigmentary_retinal_dystrophy_vitelliform_macular_dystrophy_3_retinitis_pigmentosa_7_patterned_macular_dystrophy_1_choroidal_dystrophy_central_areolar_2 Pigmentary retinal dystrophy;Vitelliform macular dystrophy 3;Retinitis pigmentosa 7;Patterned macular dystrophy 1;Choroidal dystrophy, central areolar 2 Supplemental_disease_name DISEASE_NAME:pigmentary_retinopathy_and_sensorineural_deafness PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS Supplemental_disease_name DISEASE_NAME:pigmentary_skin_disorders Pigmentary skin disorders Supplemental_disease_name DISEASE_NAME:pigmented_nodular_adrenocortical_disease_primary_1 Pigmented nodular adrenocortical disease, primary, 1 Supplemental_disease_name DISEASE_NAME:pigmented_nodular_adrenocortical_disease_primary_1_acrodysostosis_1_with_or_without_hormone_resistance_familial_atrial_myxoma_carney_complex_type_1 Pigmented nodular adrenocortical disease, primary, 1;Acrodysostosis 1 with or without hormone resistance;Familial atrial myxoma;Carney complex, type 1 Supplemental_disease_name DISEASE_NAME:pigmented_nodular_adrenocortical_disease_primary_1_carney_complex_acrodysostosis_1_with_or_without_hormone_resistance Pigmented nodular adrenocortical disease, primary, 1;Carney complex;Acrodysostosis 1 with or without hormone resistance Supplemental_disease_name DISEASE_NAME:pigmented_nodular_adrenocortical_disease_primary_1_familial_atrial_myxoma_acrodysostosis_1_with_or_without_hormone_resistance_carney_complex_type_1 Pigmented nodular adrenocortical disease, primary, 1;Familial atrial myxoma;Acrodysostosis 1 with or without hormone resistance;Carney complex, type 1 Supplemental_disease_name DISEASE_NAME:pigmented_nodular_adrenocortical_disease_primary_1_familial_atrial_myxoma_carney_complex_type_1_acrodysostosis_1_with_or_without_hormone_resistance Pigmented nodular adrenocortical disease, primary, 1;Familial atrial myxoma;Carney complex, type 1;Acrodysostosis 1 with or without hormone resistance Supplemental_disease_name DISEASE_NAME:pigmented_nodular_adrenocortical_disease_primary_2 Pigmented nodular adrenocortical disease, primary, 2 Supplemental_disease_name DISEASE_NAME:pigmented_nodular_adrenocortical_disease_primary_3 Pigmented nodular adrenocortical disease, primary, 3 Supplemental_disease_name DISEASE_NAME:pigmented_nodular_adrenocortical_disease_primary_4 Pigmented nodular adrenocortical disease, primary, 4 Supplemental_disease_name DISEASE_NAME:pigmented_paravenous_retinochoroidal_atrophy Pigmented paravenous retinochoroidal atrophy Supplemental_disease_name DISEASE_NAME:pigmented_paravenous_retinochoroidal_atrophy_leber_congenital_amaurosis_8_retinitis_pigmentosa_12 Pigmented paravenous retinochoroidal atrophy;Leber congenital amaurosis 8;Retinitis pigmentosa 12 Supplemental_disease_name DISEASE_NAME:pigmented_paravenous_retinochoroidal_atrophy_retinitis_pigmentosa_12 Pigmented paravenous retinochoroidal atrophy;Retinitis pigmentosa 12 Supplemental_disease_name DISEASE_NAME:pigmented_paravenous_retinochoroidal_atrophy_retinitis_pigmentosa_12_leber_congenital_amaurosis_8 Pigmented paravenous retinochoroidal atrophy;Retinitis pigmentosa 12;Leber congenital amaurosis 8 Supplemental_disease_name DISEASE_NAME:pign_related_disorder PIGN-related disorder Supplemental_disease_name DISEASE_NAME:pigo_related_disorder PIGO-related disorder Supplemental_disease_name DISEASE_NAME:pigp_related_disorder PIGP-related disorder Supplemental_disease_name DISEASE_NAME:pigq_related_disorder PIGQ-related disorder Supplemental_disease_name DISEASE_NAME:pigs_related_disorder PIGS-related disorder Supplemental_disease_name DISEASE_NAME:pigt_related_disorder PIGT-related disorder Supplemental_disease_name DISEASE_NAME:pigu_related_disorder PIGU-related disorder Supplemental_disease_name DISEASE_NAME:pigv_related_disorder PIGV-related disorder Supplemental_disease_name DISEASE_NAME:pigw_related_disorder PIGW-related disorder Supplemental_disease_name DISEASE_NAME:pik3ap1_associated_seizure_disorder PIK3AP1-Associated Seizure Disorder Supplemental_disease_name DISEASE_NAME:pik3ap1_related_disorder PIK3AP1-related disorder Supplemental_disease_name DISEASE_NAME:pik3ap1_related_early_onset_epileptic_encephalopathy PIK3AP1-related early onset epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:pik3c1_related_disorder PIK3C1-related disorder Supplemental_disease_name DISEASE_NAME:pik3c2a_related_disorder PIK3C2A-related disorder Supplemental_disease_name DISEASE_NAME:pik3c2b_related_disorder PIK3C2B-related disorder Supplemental_disease_name DISEASE_NAME:pik3ca_constitutional_syndrome PIK3CA constitutional syndrome Supplemental_disease_name DISEASE_NAME:pik3ca_overgrowth_syndrome PIK3CA overgrowth syndrome Supplemental_disease_name DISEASE_NAME:pik3ca_related_disorder PIK3CA-related disorder Supplemental_disease_name DISEASE_NAME:pik3ca_related_overgrowth PIK3CA-related overgrowth Supplemental_disease_name DISEASE_NAME:pik3ca_related_overgrowth_spectrum_disorders PIK3CA-Related Overgrowth Spectrum Disorders Supplemental_disease_name DISEASE_NAME:pik3ca_related_overgrowth_syndrome PIK3CA related overgrowth syndrome Supplemental_disease_name DISEASE_NAME:pik3cd_related_disorder PIK3CD-related disorder Supplemental_disease_name DISEASE_NAME:pik3cg_related_disorder PIK3CG-related disorder Supplemental_disease_name DISEASE_NAME:pik3r1_related_disorder PIK3R1-related disorder Supplemental_disease_name DISEASE_NAME:pik3r2_related_disorder PIK3R2-related disorder Supplemental_disease_name DISEASE_NAME:pik3r5_related_disorder PIK3R5-related disorder Supplemental_disease_name DISEASE_NAME:pikfyve_related_disorder PIKFYVE-related disorder Supplemental_disease_name DISEASE_NAME:pili_torti_deafness_syndrome Pili torti-deafness syndrome Supplemental_disease_name DISEASE_NAME:pili_torti_deafness_syndrome_gracile_syndrome_mitochondrial_complex_iii_deficiency_nuclear_type_1 Pili torti-deafness syndrome;GRACILE syndrome;Mitochondrial complex III deficiency nuclear type 1 Supplemental_disease_name DISEASE_NAME:pili_torti_deafness_syndrome_mitochondrial_complex_iii_deficiency_nuclear_type_1_gracile_syndrome Pili torti-deafness syndrome;Mitochondrial complex III deficiency nuclear type 1;GRACILE syndrome Supplemental_disease_name DISEASE_NAME:pili_torti_developmental_delay_neurological_abnormalities_syndrome Pili torti-developmental delay-neurological abnormalities syndrome Supplemental_disease_name DISEASE_NAME:pilomatrixoma_neoplasm_of_stomach_familial_adenomatous_polyposis_2 Pilomatrixoma;Neoplasm of stomach;Familial adenomatous polyposis 2 Supplemental_disease_name DISEASE_NAME:pineal_hyperplasia_and_diabetes_mellitus_syndrome Pineal hyperplasia and diabetes mellitus syndrome Supplemental_disease_name DISEASE_NAME:pink1_related_disorder PINK1-related disorder Supplemental_disease_name DISEASE_NAME:pink1_related_parkinsonism PINK1-Related Parkinsonism Supplemental_disease_name DISEASE_NAME:pip5k1c_related_disorder PIP5K1C-related disorder Supplemental_disease_name DISEASE_NAME:pip5k1c_related_neurodevelopmental_disorder PIP5K1C-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:piroxicam_response Piroxicam response Supplemental_disease_name DISEASE_NAME:pisd_related_disorder PISD-related disorder Supplemental_disease_name DISEASE_NAME:pisd_related_mitochondrial_disease PISD-related mitochondrial disease Supplemental_disease_name DISEASE_NAME:pitavastatin_response_metabolism_pk pitavastatin response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:pitpnm3_related_disorder PITPNM3-related disorder Supplemental_disease_name DISEASE_NAME:pitrm1_related_disorder PITRM1-related disorder Supplemental_disease_name DISEASE_NAME:pitt_hopkins_like_syndrome Pitt-Hopkins-like syndrome Supplemental_disease_name DISEASE_NAME:pitt_hopkins_like_syndrome_2_chromosome_2p16_3_deletion_syndrome Pitt-Hopkins-like syndrome 2;Chromosome 2p16.3 deletion syndrome Supplemental_disease_name DISEASE_NAME:pitt_hopkins_syndrome_corneal_dystrophy_fuchs_endothelial_3 Pitt-Hopkins syndrome;Corneal dystrophy, Fuchs endothelial, 3 Supplemental_disease_name DISEASE_NAME:pituitary_adenoma_5_multiple_types_autosomal_recessive_nonsyndromic_hearing_loss_12_usher_syndrome_type_1d Pituitary adenoma 5, multiple types;Autosomal recessive nonsyndromic hearing loss 12;Usher syndrome type 1D Supplemental_disease_name DISEASE_NAME:pituitary_adenoma_5_multiple_types_usher_syndrome_type_1d_autosomal_recessive_nonsyndromic_hearing_loss_12 Pituitary adenoma 5, multiple types;Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 12 Supplemental_disease_name DISEASE_NAME:pituitary_adenoma_growth_hormone_secreting_2 Pituitary adenoma, growth hormone-secreting, 2 Supplemental_disease_name DISEASE_NAME:pituitary_adenoma_growth_hormone_secreting_2_x_linked_acrogigantism_due_to_xq26_microduplication Pituitary adenoma, growth hormone-secreting, 2;X-linked acrogigantism due to Xq26 microduplication Supplemental_disease_name DISEASE_NAME:pituitary_adenoma_predisposition Pituitary adenoma predisposition Supplemental_disease_name DISEASE_NAME:pituitary_dependent_hypercortisolism Pituitary dependent hypercortisolism Supplemental_disease_name DISEASE_NAME:pituitary_dependent_hypercortisolism_acroleukopathy_symmetric_somatotroph_adenoma Pituitary dependent hypercortisolism;Acroleukopathy, symmetric;Somatotroph adenoma Supplemental_disease_name DISEASE_NAME:pituitary_dependent_hypercortisolism_somatotroph_adenoma Pituitary dependent hypercortisolism;Somatotroph adenoma Supplemental_disease_name DISEASE_NAME:pituitary_hormone_deficiency_combined_1 Pituitary hormone deficiency, combined, 1 Supplemental_disease_name DISEASE_NAME:pituitary_hormone_deficiency_combined_2 Pituitary hormone deficiency, combined, 2 Supplemental_disease_name DISEASE_NAME:pituitary_hormone_deficiency_combined_5 PITUITARY HORMONE DEFICIENCY, COMBINED, 5 Supplemental_disease_name DISEASE_NAME:pituitary_hormone_deficiency_combined_6 Pituitary hormone deficiency, combined, 6 Supplemental_disease_name DISEASE_NAME:pituitary_hormone_deficiency_combined_6_syndromic_microphthalmia_type_5 Pituitary hormone deficiency, combined, 6;Syndromic microphthalmia type 5 Supplemental_disease_name DISEASE_NAME:pituitary_hormone_deficiency_combined_or_isolated_8 Pituitary hormone deficiency, combined or isolated, 8 Supplemental_disease_name DISEASE_NAME:pituitary_hypothyroidism Pituitary hypothyroidism Supplemental_disease_name DISEASE_NAME:pituitary_stalk_interruption_syndrome Pituitary stalk interruption syndrome Supplemental_disease_name DISEASE_NAME:pituitary_tumor_3_growth_hormone_secreting_somatic PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC Supplemental_disease_name DISEASE_NAME:pitx1_related_disorder PITX1-related disorder Supplemental_disease_name DISEASE_NAME:pitx2_related_disorder PITX2-related disorder Supplemental_disease_name DISEASE_NAME:pitx2_related_eye_abnormalities PITX2-Related Eye Abnormalities Supplemental_disease_name DISEASE_NAME:pitx3_related_disorder PITX3-related disorder Supplemental_disease_name DISEASE_NAME:pityriasis_rubra_pilaris_psoriasis_2 Pityriasis rubra pilaris;Psoriasis 2 Supplemental_disease_name DISEASE_NAME:piwil1_related_disorder PIWIL1-related disorder Supplemental_disease_name DISEASE_NAME:pja1_related_disorder PJA1-related disorder Supplemental_disease_name DISEASE_NAME:pjvk_related_disorder PJVK-related disorder Supplemental_disease_name DISEASE_NAME:pkd1_biallelic_autosomal_recessive_polycystic_kidney_disease PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease Supplemental_disease_name DISEASE_NAME:pkd1_related_disorder PKD1-related disorder Supplemental_disease_name DISEASE_NAME:pkd1l1_related_disorder PKD1L1-related disorder Supplemental_disease_name DISEASE_NAME:pkd2_related_disorder PKD2-related disorder Supplemental_disease_name DISEASE_NAME:pkdcc_related_disorder PKDCC-related disorder Supplemental_disease_name DISEASE_NAME:pkhd1_related_disorder PKHD1-related disorder Supplemental_disease_name DISEASE_NAME:pkhd1l1_related_disorder PKHD1L1-related disorder Supplemental_disease_name DISEASE_NAME:pklr_related_disorder PKLR-related disorder Supplemental_disease_name DISEASE_NAME:pkp1_related_disorder PKP1-related disorder Supplemental_disease_name DISEASE_NAME:pkp2_related_disorder PKP2-related disorder Supplemental_disease_name DISEASE_NAME:pl_a1_a2_alloantigen_polymorphism PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM Supplemental_disease_name DISEASE_NAME:pla2g2a_related_disorder PLA2G2A-related disorder Supplemental_disease_name DISEASE_NAME:pla2g4a_related_disorder PLA2G4A-related disorder Supplemental_disease_name DISEASE_NAME:pla2g4b_related_disorder PLA2G4B-related disorder Supplemental_disease_name DISEASE_NAME:pla2g6_associated_neurodegeneration PLA2G6-associated neurodegeneration Supplemental_disease_name DISEASE_NAME:pla2g6_associated_neurodegeneration_plan PLA2G6-associated neurodegeneration (PLAN) Supplemental_disease_name DISEASE_NAME:pla2g6_related_disorder PLA2G6-related disorder Supplemental_disease_name DISEASE_NAME:pla2g7_related_disorder PLA2G7-related disorder Supplemental_disease_name DISEASE_NAME:plaa_related_disorder PLAA-related disorder Supplemental_disease_name DISEASE_NAME:plac4_related_disorder PLAC4-related disorder Supplemental_disease_name DISEASE_NAME:plag1_related_disorder PLAG1-related disorder Supplemental_disease_name DISEASE_NAME:plagiocephaly_radioulnar_synostosis Plagiocephaly;Radioulnar synostosis Supplemental_disease_name DISEASE_NAME:plagl1_related_disorder PLAGL1-related disorder Supplemental_disease_name DISEASE_NAME:plasma_factor_xi_deficiency Plasma factor XI deficiency Supplemental_disease_name DISEASE_NAME:plasma_fibronectin_deficiency_glomerulopathy_with_fibronectin_deposits_2 Plasma fibronectin deficiency;Glomerulopathy with fibronectin deposits 2 Supplemental_disease_name DISEASE_NAME:plasma_triglyceride_level_quantitative_trait_locus Plasma triglyceride level quantitative trait locus Supplemental_disease_name DISEASE_NAME:plasminogen_deficiency Plasminogen deficiency Supplemental_disease_name DISEASE_NAME:plasminogen_deficiency_type_i_angioedema_hereditary_4 Plasminogen deficiency, type I;Angioedema, hereditary, 4 Supplemental_disease_name DISEASE_NAME:plat_related_disorder PLAT-related disorder Supplemental_disease_name DISEASE_NAME:platelet_activating_factor_acetylhydrolase_deficiency Platelet-activating factor acetylhydrolase deficiency Supplemental_disease_name DISEASE_NAME:platelet_type_bleeding_disorder Platelet-type bleeding disorder Supplemental_disease_name DISEASE_NAME:platelet_type_bleeding_disorder_10_coronary_heart_disease_susceptibility_to_7_malaria_susceptibility_to Platelet-type bleeding disorder 10;Coronary heart disease, susceptibility to, 7;Malaria, susceptibility to Supplemental_disease_name DISEASE_NAME:platelet_type_bleeding_disorder_10_malaria_susceptibility_to_coronary_heart_disease_susceptibility_to_7 Platelet-type bleeding disorder 10;Malaria, susceptibility to;Coronary heart disease, susceptibility to, 7 Supplemental_disease_name DISEASE_NAME:platelet_type_bleeding_disorder_16_glanzmann_thrombasthenia Platelet-type bleeding disorder 16;Glanzmann thrombasthenia Supplemental_disease_name DISEASE_NAME:platelet_type_bleeding_disorder_16_glanzmann_thrombasthenia_1 Platelet-type bleeding disorder 16;Glanzmann thrombasthenia 1 Supplemental_disease_name DISEASE_NAME:platinum_compounds_response_efficacy Platinum compounds response - Efficacy Supplemental_disease_name DISEASE_NAME:platyspondylic_dysplasia_torrance_type Platyspondylic dysplasia, Torrance type Supplemental_disease_name DISEASE_NAME:plau_related_disorder PLAU-related disorder Supplemental_disease_name DISEASE_NAME:plaur_related_disorder PLAUR-related disorder Supplemental_disease_name DISEASE_NAME:plcb1_related_disorder PLCB1-related disorder Supplemental_disease_name DISEASE_NAME:plcb3_related_disorder PLCB3-related disorder Supplemental_disease_name DISEASE_NAME:plcb4_related_disorder PLCB4-related disorder Supplemental_disease_name DISEASE_NAME:plcd1_related_disorder PLCD1-related disorder Supplemental_disease_name DISEASE_NAME:plce1_related_disorder PLCE1-related disorder Supplemental_disease_name DISEASE_NAME:plcg1_related_disorder PLCG1-related disorder Supplemental_disease_name DISEASE_NAME:plcg2_related_disorder PLCG2-related disorder Supplemental_disease_name DISEASE_NAME:plcz1_related_disorder PLCZ1-related disorder Supplemental_disease_name DISEASE_NAME:pld1_related_disorder PLD1-related disorder Supplemental_disease_name DISEASE_NAME:pld3_related_disorder PLD3-related disorder Supplemental_disease_name DISEASE_NAME:plec_related_disorder PLEC-related disorder Supplemental_disease_name DISEASE_NAME:plec_related_epidermolysis_bullosa PLEC-related epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:plekha5_related_disorder PLEKHA5-related disorder Supplemental_disease_name DISEASE_NAME:plekha7_related_disorder PLEKHA7-related disorder Supplemental_disease_name DISEASE_NAME:plekhg2_related_disorder PLEKHG2-related disorder Supplemental_disease_name DISEASE_NAME:plekhg4_related_disorder PLEKHG4-related disorder Supplemental_disease_name DISEASE_NAME:plekhg5_related_disorder PLEKHG5-related disorder Supplemental_disease_name DISEASE_NAME:plekhg6_related_disorder PLEKHG6-related disorder Supplemental_disease_name DISEASE_NAME:plekhm2_related_disorder PLEKHM2-related disorder Supplemental_disease_name DISEASE_NAME:pleomorphic_xanthoastrocytoma_astrocytoma_anaplastic Pleomorphic xanthoastrocytoma;Astrocytoma, anaplastic Supplemental_disease_name DISEASE_NAME:pleural_effusion_myelodysplasia Pleural effusion;Myelodysplasia Supplemental_disease_name DISEASE_NAME:pleuropulmonary_blastoma_euthyroid_goiter Pleuropulmonary blastoma;Euthyroid goiter Supplemental_disease_name DISEASE_NAME:pleuropulmonary_blastoma_euthyroid_goiter_rhabdomyosarcoma_embryonal_2_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome Pleuropulmonary blastoma;Euthyroid goiter;Rhabdomyosarcoma, embryonal, 2;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Supplemental_disease_name DISEASE_NAME:pleuropulmonary_blastoma_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_euthyroid_goiter_rhabdomyosarcoma_embryonal_2 Pleuropulmonary blastoma;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Euthyroid goiter;Rhabdomyosarcoma, embryonal, 2 Supplemental_disease_name DISEASE_NAME:pleuropulmonary_blastoma_rhabdomyosarcoma_embryonal_2_euthyroid_goiter_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome Pleuropulmonary blastoma;Rhabdomyosarcoma, embryonal, 2;Euthyroid goiter;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Supplemental_disease_name DISEASE_NAME:plg_related_disorder PLG-related disorder Supplemental_disease_name DISEASE_NAME:plin1_related_disorder PLIN1-related disorder Supplemental_disease_name DISEASE_NAME:plk4_related_disorder PLK4-related disorder Supplemental_disease_name DISEASE_NAME:plk4_related_microcephaly_and_growth_failure_with_or_without_ocular_features PLK4-related microcephaly and growth failure with or without ocular features Supplemental_disease_name DISEASE_NAME:pln_related_cardiomyopathy PLN-related cardiomyopathy Supplemental_disease_name DISEASE_NAME:pln_related_disorder PLN-related disorder Supplemental_disease_name DISEASE_NAME:plod1_related_disorder PLOD1-related disorder Supplemental_disease_name DISEASE_NAME:plod2_related_disorder PLOD2-related disorder Supplemental_disease_name DISEASE_NAME:plod3_related_disorder PLOD3-related disorder Supplemental_disease_name DISEASE_NAME:plp1_related_disorder PLP1-related disorder Supplemental_disease_name DISEASE_NAME:plpbp_related_disorder PLPBP-related disorder Supplemental_disease_name DISEASE_NAME:plpp2_related_disorder PLPP2-related disorder Supplemental_disease_name DISEASE_NAME:plpp6_related_disorder PLPP6-related disorder Supplemental_disease_name DISEASE_NAME:pls1_related_disorder PLS1-related disorder Supplemental_disease_name DISEASE_NAME:pls3_related_disorder PLS3-related disorder Supplemental_disease_name DISEASE_NAME:pltp_related_disorder PLTP-related disorder Supplemental_disease_name DISEASE_NAME:plvap_related_disorder PLVAP-related disorder Supplemental_disease_name DISEASE_NAME:plxna1_associated_encephalopathy PLXNA1-associated encephalopathy Supplemental_disease_name DISEASE_NAME:plxna1_related_disorder PLXNA1-related disorder Supplemental_disease_name DISEASE_NAME:plxna1_related_neurodevelopmental_disorder PLXNA1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:plxna1_related_neurodevelopmental_disorder_with_variable_cerebral_and_eye_anomalies PLXNA1-related Neurodevelopmental disorder with variable cerebral and eye anomalies Supplemental_disease_name DISEASE_NAME:plxna2_related_disorder PLXNA2-related disorder Supplemental_disease_name DISEASE_NAME:plxna3_associated_seizure_disorder PLXNA3-associated seizure disorder Supplemental_disease_name DISEASE_NAME:plxna3_related_disorder PLXNA3-related disorder Supplemental_disease_name DISEASE_NAME:plxna3_related_neurodevelopmental_disorder PLXNA3-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:plxna4_related_disorder PLXNA4-related disorder Supplemental_disease_name DISEASE_NAME:plxnb1_related_disorder PLXNB1-related disorder Supplemental_disease_name DISEASE_NAME:plxnb3_related_congenital_heart_disease_with_neurodevelopmental_disabilities PLXNB3-related Congenital heart disease with neurodevelopmental disabilities Supplemental_disease_name DISEASE_NAME:plxnb3_related_disorder PLXNB3-related disorder Supplemental_disease_name DISEASE_NAME:plxnb3_related_intellectual_disability PLXNB3-related Intellectual disability Supplemental_disease_name DISEASE_NAME:plxnd1_related_disorder PLXND1-related disorder Supplemental_disease_name DISEASE_NAME:pmel_related_disorder PMEL-related disorder Supplemental_disease_name DISEASE_NAME:pmfbp1_related_disorder PMFBP1-related disorder Supplemental_disease_name DISEASE_NAME:pml_related_disorder PML-related disorder Supplemental_disease_name DISEASE_NAME:pmm2_congenital_disorder_of_glycosylation_gamma_aminobutyric_acid_transaminase_deficiency PMM2-congenital disorder of glycosylation;Gamma-aminobutyric acid transaminase deficiency Supplemental_disease_name DISEASE_NAME:pmm2_related_disorder PMM2-related disorder Supplemental_disease_name DISEASE_NAME:pmp22_rai1_contiguous_gene_duplication_syndrome PMP22-RAI1 contiguous gene duplication syndrome Supplemental_disease_name DISEASE_NAME:pmp22_rai1_contiguous_gene_duplication_syndrome_smith_magenis_syndrome PMP22-RAI1 contiguous gene duplication syndrome;Smith-Magenis syndrome Supplemental_disease_name DISEASE_NAME:pmp22_related_disorder PMP22-related disorder Supplemental_disease_name DISEASE_NAME:pmp2_related_disorder PMP2-related disorder Supplemental_disease_name DISEASE_NAME:pmpca_related_disorder PMPCA-related disorder Supplemental_disease_name DISEASE_NAME:pmpcb_related_ataxia PMPCB-related ataxia Supplemental_disease_name DISEASE_NAME:pmpcb_related_disorder PMPCB-related disorder Supplemental_disease_name DISEASE_NAME:pmpcb_related_mitochondrial_disorder PMPCB-related mitochondrial disorder Supplemental_disease_name DISEASE_NAME:pms1_related_breast_cancer PMS1-related breast cancer Supplemental_disease_name DISEASE_NAME:pms1_related_disorder PMS1-related disorder Supplemental_disease_name DISEASE_NAME:pms2_related_cancer_disorders PMS2-related cancer disorders Supplemental_disease_name DISEASE_NAME:pms2_related_disorder PMS2-related disorder Supplemental_disease_name DISEASE_NAME:pmvk_associated_autoinflammatory_disorder PMVK-associated autoinflammatory disorder Supplemental_disease_name DISEASE_NAME:pmvk_related_disorder PMVK-related disorder Supplemental_disease_name DISEASE_NAME:pnck_related_condition PNCK-related condition Supplemental_disease_name DISEASE_NAME:pneumothorax_attention_deficit_hyperactivity_disorder_decreased_testicular_size_overgrowth Pneumothorax;Attention deficit hyperactivity disorder;Decreased testicular size;Overgrowth Supplemental_disease_name DISEASE_NAME:pneumothorax_familial Pneumothorax - familial Supplemental_disease_name DISEASE_NAME:pnkd_related_disorder PNKD-related disorder Supplemental_disease_name DISEASE_NAME:pnkp_related_disorder PNKP-related disorder Supplemental_disease_name DISEASE_NAME:pnlip_related_disorder PNLIP-related disorder Supplemental_disease_name DISEASE_NAME:pnp_polymorphism PNP POLYMORPHISM Supplemental_disease_name DISEASE_NAME:pnp_related_disorder PNP-related disorder Supplemental_disease_name DISEASE_NAME:pnpla1_related_disorder PNPLA1-related disorder Supplemental_disease_name DISEASE_NAME:pnpla2_related_disorder PNPLA2-related disorder Supplemental_disease_name DISEASE_NAME:pnpla4_related_disorder PNPLA4-related disorder Supplemental_disease_name DISEASE_NAME:pnpla5_related_disorder PNPLA5-related disorder Supplemental_disease_name DISEASE_NAME:pnpla6_related_disorder PNPLA6-related disorder Supplemental_disease_name DISEASE_NAME:pnpla6_related_spastic_paraplegia_with_or_without_ataxia PNPLA6-related spastic paraplegia with or without ataxia Supplemental_disease_name DISEASE_NAME:pnpla7_related_condition PNPLA7-related condition Supplemental_disease_name DISEASE_NAME:pnpla8_related_disorder PNPLA8-related disorder Supplemental_disease_name DISEASE_NAME:pnpo_related_disorder PNPO-related disorder Supplemental_disease_name DISEASE_NAME:pnpt1_related_disorder PNPT1-related disorder Supplemental_disease_name DISEASE_NAME:poc1a_related_disorder POC1A-related disorder Supplemental_disease_name DISEASE_NAME:poc1a_related_syndrome POC1A-related syndrome Supplemental_disease_name DISEASE_NAME:poc1b_related_disorder POC1B-related disorder Supplemental_disease_name DISEASE_NAME:poc5_related_disorder POC5-related disorder Supplemental_disease_name DISEASE_NAME:podxl_related_disorder PODXL-related disorder Supplemental_disease_name DISEASE_NAME:pof1b_related_disorder POF1B-related disorder Supplemental_disease_name DISEASE_NAME:pofut1_related_disorder POFUT1-related disorder Supplemental_disease_name DISEASE_NAME:poglut1_related_disorder POGLUT1-related disorder Supplemental_disease_name DISEASE_NAME:pogz_related_disorder POGZ-related disorder Supplemental_disease_name DISEASE_NAME:poirier_bienvenu_neurodevelopmental_syndrome Poirier-Bienvenu neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:pola1_related_disorder POLA1-related disorder Supplemental_disease_name DISEASE_NAME:pold1_related_disorder POLD1-related disorder Supplemental_disease_name DISEASE_NAME:pold3_related_disorder POLD3-related disorder Supplemental_disease_name DISEASE_NAME:pole2_related_disorder POLE2-related disorder Supplemental_disease_name DISEASE_NAME:pole_exonuclease_domain_mutation POLE Exonuclease Domain Mutation Supplemental_disease_name DISEASE_NAME:pole_related_disorder POLE-related disorder Supplemental_disease_name DISEASE_NAME:pole_related_polyposis_and_colorectal_cancer_syndrome POLE-related polyposis and colorectal cancer syndrome Supplemental_disease_name DISEASE_NAME:polg2_related_disorder POLG2-related disorder Supplemental_disease_name DISEASE_NAME:polg2_related_spectrum_disorders POLG2-related spectrum disorders Supplemental_disease_name DISEASE_NAME:polg_related_disorder POLG-related disorder Supplemental_disease_name DISEASE_NAME:polg_related_spectrum_disorders POLG-related spectrum disorders Supplemental_disease_name DISEASE_NAME:polh_related_disorder POLH-related disorder Supplemental_disease_name DISEASE_NAME:poll_related_disorder POLL-related disorder Supplemental_disease_name DISEASE_NAME:polq_related_disorder POLQ-related disorder Supplemental_disease_name DISEASE_NAME:polr1a_related_disorder POLR1A-related disorder Supplemental_disease_name DISEASE_NAME:polr1b_related_disorder POLR1B-related disorder Supplemental_disease_name DISEASE_NAME:polr1c_related_disorder POLR1C-related disorder Supplemental_disease_name DISEASE_NAME:polr1d_related_disorder POLR1D-related disorder Supplemental_disease_name DISEASE_NAME:polr2a_related_disorder POLR2A-related disorder Supplemental_disease_name DISEASE_NAME:polr3a_related_disorder POLR3A-related disorder Supplemental_disease_name DISEASE_NAME:polr3a_related_neurological_disorders POLR3A-related neurological disorders Supplemental_disease_name DISEASE_NAME:polr3a_related_neuropathy POLR3A-related neuropathy Supplemental_disease_name DISEASE_NAME:polr3b_related_disorder POLR3B-related disorder Supplemental_disease_name DISEASE_NAME:polr3c_related_disorder POLR3C-related disorder Supplemental_disease_name DISEASE_NAME:polr3gl_related_disorder POLR3GL-related disorder Supplemental_disease_name DISEASE_NAME:polr3h_related_condition POLR3H-related condition Supplemental_disease_name DISEASE_NAME:polr_related_leukodystrophy POLR-related leukodystrophy Supplemental_disease_name DISEASE_NAME:polrmt_related_disorder POLRMT-related disorder Supplemental_disease_name DISEASE_NAME:poly_adp_ribose_polymerase_inhibitor_response Poly (ADP-Ribose) polymerase inhibitor response Supplemental_disease_name DISEASE_NAME:polyagglutinable_erythrocyte_syndrome Polyagglutinable erythrocyte syndrome Supplemental_disease_name DISEASE_NAME:polyarticular_arthritis_anxiety_hypothyroidism Polyarticular arthritis;Anxiety;Hypothyroidism Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_3_with_or_without_polycystic_liver_disease Polycystic kidney disease 3 with or without polycystic liver disease Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_3_with_polycystic_liver_disease POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_3_without_polycystic_liver_disease POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_6_with_or_without_polycystic_liver_disease Polycystic kidney disease 6 with or without polycystic liver disease Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_8_nephronophthisis_9_renal_hepatic_pancreatic_dysplasia_2 Polycystic kidney disease 8;Nephronophthisis 9;Renal-hepatic-pancreatic dysplasia 2 Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_8_renal_hepatic_pancreatic_dysplasia_2_nephronophthisis_9 Polycystic kidney disease 8;Renal-hepatic-pancreatic dysplasia 2;Nephronophthisis 9 Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_9_susceptibility_to Polycystic kidney disease 9, susceptibility to Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_abnormality_of_the_kidney_multicystic_kidney_dysplasia Polycystic kidney disease;Abnormality of the kidney;Multicystic kidney dysplasia Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_adult_adpkd Polycystic kidney disease, adult (ADPKD) Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_adult_type Polycystic kidney disease, adult type Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_adult_type_autosomal_dominant_polycystic_kidney_disease Polycystic kidney disease, adult type;Autosomal dominant polycystic kidney disease Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_adult_type_autosomal_dominant_polycystic_liver_disease Polycystic kidney disease, adult type;Autosomal dominant polycystic liver disease Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_chronic_kidney_disease_hypertensive_disorder Polycystic kidney disease;Chronic kidney disease;Hypertensive disorder Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_elevated_systolic_blood_pressure_elevated_diastolic_blood_pressure Polycystic kidney disease;Elevated systolic blood pressure;Elevated diastolic blood pressure Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_encephalocele Polycystic kidney disease;Encephalocele Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_hypertensive_disorder Polycystic kidney disease;Hypertensive disorder Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_polycystic_liver_disease_1 Polycystic kidney disease;Polycystic liver disease 1 Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_renal_insufficiency Polycystic kidney disease;Renal insufficiency Supplemental_disease_name DISEASE_NAME:polycystic_kidney_disease_severe_hydrocephalus_encephalocele Polycystic kidney disease;Severe hydrocephalus;Encephalocele Supplemental_disease_name DISEASE_NAME:polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_1 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Supplemental_disease_name DISEASE_NAME:polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 Supplemental_disease_name DISEASE_NAME:polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephaly Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly Supplemental_disease_name DISEASE_NAME:polycystic_liver_disease_3_with_or_without_kidney_cysts Polycystic liver disease 3 with or without kidney cysts Supplemental_disease_name DISEASE_NAME:polycystic_liver_disease_3_with_or_without_kidney_cysts_alg8_congenital_disorder_of_glycosylation Polycystic liver disease 3 with or without kidney cysts;ALG8 congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:polycystic_liver_disease_4_with_kidney_cysts POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS Supplemental_disease_name DISEASE_NAME:polycystic_liver_disease_4_with_or_without_kidney_cysts Polycystic liver disease 4 with or without kidney cysts Supplemental_disease_name DISEASE_NAME:polydactyly_abnormal_mandible_morphology_retrognathia Polydactyly;Abnormal mandible morphology;Retrognathia Supplemental_disease_name DISEASE_NAME:polydactyly_hypotonia_nystagmus Polydactyly;Hypotonia;Nystagmus Supplemental_disease_name DISEASE_NAME:polydactyly_limb_undergrowth_global_developmental_delay_chronic_kidney_disease_rotary_nystagmus Polydactyly;Limb undergrowth;Global developmental delay;Chronic kidney disease;Rotary nystagmus Supplemental_disease_name DISEASE_NAME:polydactyly_macrocephaly_syndrome Polydactyly-macrocephaly syndrome Supplemental_disease_name DISEASE_NAME:polydactyly_macrocephaly_syndrome_pheochromocytoma Polydactyly-macrocephaly syndrome;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:polydactyly_nystagmus_hypotonia Polydactyly;Nystagmus;Hypotonia Supplemental_disease_name DISEASE_NAME:polydactyly_of_a_biphalangeal_thumb Polydactyly of a biphalangeal thumb Supplemental_disease_name DISEASE_NAME:polydactyly_of_a_biphalangeal_thumb_polydactyly_postaxial_type_a8 Polydactyly of a biphalangeal thumb;Polydactyly, postaxial, type A8 Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1 Polydactyly, postaxial, type A1 Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a10 Polydactyly, postaxial, type a10 Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1_greig_cephalopolysyndactyly_syndrome Polydactyly, postaxial, type A1;Greig cephalopolysyndactyly syndrome Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1_greig_cephalopolysyndactyly_syndrome_pallister_hall_syndrome_polysyndactyly_4 Polydactyly, postaxial, type A1;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polysyndactyly 4 Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1_greig_cephalopolysyndactyly_syndrome_polysyndactyly_4_pallister_hall_syndrome Polydactyly, postaxial, type A1;Greig cephalopolysyndactyly syndrome;Polysyndactyly 4;Pallister-Hall syndrome Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1_pallister_hall_syndrome_greig_cephalopolysyndactyly_syndrome_polysyndactyly_4 Polydactyly, postaxial, type A1;Pallister-Hall syndrome;Greig cephalopolysyndactyly syndrome;Polysyndactyly 4 Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1_pallister_hall_syndrome_polysyndactyly_4_greig_cephalopolysyndactyly_syndrome Polydactyly, postaxial, type A1;Pallister-Hall syndrome;Polysyndactyly 4;Greig cephalopolysyndactyly syndrome Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1_polysyndactyly_4_greig_cephalopolysyndactyly_syndrome_pallister_hall_syndrome Polydactyly, postaxial, type A1;Polysyndactyly 4;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1_polysyndactyly_4_pallister_hall_syndrome_greig_cephalopolysyndactyly_syndrome Polydactyly, postaxial, type A1;Polysyndactyly 4;Pallister-Hall syndrome;Greig cephalopolysyndactyly syndrome Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1_visual_impairment_inability_to_walk_abnormal_cardiovascular_system_morphology Polydactyly, postaxial, type A1;Visual impairment;Inability to walk;Abnormal cardiovascular system morphology Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a6 Polydactyly, postaxial, type A6 Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a7 Polydactyly, postaxial, type a7 Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a8 Polydactyly, postaxial, type A8 Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a9 Polydactyly, postaxial, type A9 Supplemental_disease_name DISEASE_NAME:polydactyly_radioulnar_synostosis Polydactyly;Radioulnar synostosis Supplemental_disease_name DISEASE_NAME:polyendocrine_polyneuropathy_syndrome Polyendocrine-polyneuropathy syndrome Supplemental_disease_name DISEASE_NAME:polyendocrine_polyneuropathy_syndrome_developmental_and_epileptic_encephalopathy_81 Polyendocrine-polyneuropathy syndrome;Developmental and epileptic encephalopathy, 81 Supplemental_disease_name DISEASE_NAME:polyendocrine_polyneuropathy_syndrome_hearing_loss_autosomal_dominant_71_developmental_and_epileptic_encephalopathy_81 Polyendocrine-polyneuropathy syndrome;Hearing loss, autosomal dominant 71;Developmental and epileptic encephalopathy, 81 Supplemental_disease_name DISEASE_NAME:polyglandular_autoimmune_syndrome_type_1 Polyglandular autoimmune syndrome, type 1 Supplemental_disease_name DISEASE_NAME:polyglucosan_body_disease Polyglucosan body disease Supplemental_disease_name DISEASE_NAME:polyglucosan_body_myopathy_1_with_immunodeficiency Polyglucosan body myopathy 1 with immunodeficiency Supplemental_disease_name DISEASE_NAME:polyglucosan_body_myopathy_1_without_immunodeficiency Polyglucosan body myopathy 1 without immunodeficiency Supplemental_disease_name DISEASE_NAME:polyglucosan_body_myopathy_type_1 Polyglucosan body myopathy type 1 Supplemental_disease_name DISEASE_NAME:polyglucosan_body_myopathy_type_2 Polyglucosan body myopathy type 2 Supplemental_disease_name DISEASE_NAME:polyglucosan_body_myopathy_type_2_glycogen_storage_disease_xv Polyglucosan body myopathy type 2;Glycogen storage disease XV Supplemental_disease_name DISEASE_NAME:polyglucosanbody_myopathy_typ_1 Polyglucosanbody Myopathy Typ 1 Supplemental_disease_name DISEASE_NAME:polyhydramnios_abnormal_duodenum_morphology Polyhydramnios;Abnormal duodenum morphology Supplemental_disease_name DISEASE_NAME:polyhydramnios_intestinal_obstruction_hydrops_fetalis Polyhydramnios;Intestinal obstruction;Hydrops fetalis Supplemental_disease_name DISEASE_NAME:polyhydramnios_multiple_joint_contractures Polyhydramnios;Multiple joint contractures Supplemental_disease_name DISEASE_NAME:polymerase_proofreading_related_adenomatous_polyposis Polymerase proofreading-related adenomatous polyposis Supplemental_disease_name DISEASE_NAME:polymerase_proofreading_related_adenomatous_polyposis_familial_colorectal_cancer_type_x Polymerase proofreading-related adenomatous polyposis;Familial colorectal cancer type X Supplemental_disease_name DISEASE_NAME:polymicrogyria_bilateral_perisylvian_autosomal_recessive Polymicrogyria, bilateral perisylvian, autosomal recessive Supplemental_disease_name DISEASE_NAME:polymicrogyria_bilateral_perisylvian_autosomal_recessive_bilateral_frontoparietal_polymicrogyria Polymicrogyria, bilateral perisylvian, autosomal recessive;Bilateral frontoparietal polymicrogyria Supplemental_disease_name DISEASE_NAME:polymicrogyria_difficulty_walking_abnormal_facial_shape_global_developmental_delay Polymicrogyria;Difficulty walking;Abnormal facial shape;Global developmental delay Supplemental_disease_name DISEASE_NAME:polymicrogyria_perisylvian_with_cerebellar_hypoplasia_and_arthrogryposis Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Supplemental_disease_name DISEASE_NAME:polymicrogyria_perisylvian_with_cerebellar_hypoplasia_and_arthrogryposis_gastrointestinal_defects_and_immunodeficiency_syndrome_2_spastic_paraplegia_84_autosomal_recessive Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis;Gastrointestinal defects and immunodeficiency syndrome 2;Spastic paraplegia 84, autosomal recessive Supplemental_disease_name DISEASE_NAME:polymicrogyria_with_optic_nerve_hypoplasia Polymicrogyria with optic nerve hypoplasia Supplemental_disease_name DISEASE_NAME:polymicrogyria_with_or_without_vascular_type_ehlers_danlos_syndrome Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:polymicrogyria_with_or_without_vascular_type_ehlers_danlos_syndrome_ehlers_danlos_syndrome_type_4 Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome;Ehlers-Danlos syndrome, type 4 Supplemental_disease_name DISEASE_NAME:polymicrogyria_without_vascular_type_ehlers_danlos_syndrome POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME Supplemental_disease_name DISEASE_NAME:polymorphic_ventricular_tachycardia Polymorphic ventricular tachycardia Supplemental_disease_name DISEASE_NAME:polymorphous_low_grade_neuroepithelial_tumor_of_the_young Polymorphous low grade neuroepithelial tumor of the young Supplemental_disease_name DISEASE_NAME:polyneuropathy_inflammatory_demyelinating Polyneuropathy, inflammatory demyelinating Supplemental_disease_name DISEASE_NAME:polyostotic_fibrous_dysplasia_somatic_mosaic Polyostotic fibrous dysplasia, somatic, mosaic Supplemental_disease_name DISEASE_NAME:polyp_of_colon Polyp of colon Supplemental_disease_name DISEASE_NAME:polyposis_syndrome_hereditary_mixed_1 Polyposis syndrome, hereditary mixed, 1 Supplemental_disease_name DISEASE_NAME:polyposis_syndrome_hereditary_mixed_2 Polyposis syndrome, hereditary mixed, 2 Supplemental_disease_name DISEASE_NAME:polyposis_syndrome_hereditary_mixed_2_generalized_juvenile_polyposis_juvenile_polyposis_coli Polyposis syndrome, hereditary mixed, 2;Generalized juvenile polyposis/juvenile polyposis coli Supplemental_disease_name DISEASE_NAME:polyposis_syndrome_hereditary_mixed_2_juvenile_polyposis_syndrome Polyposis syndrome, hereditary mixed, 2;Juvenile polyposis syndrome Supplemental_disease_name DISEASE_NAME:polyps_multiple_and_recurrent_inflammatory_fibroid_gastrointestinal Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal Supplemental_disease_name DISEASE_NAME:polyps_multiple_and_recurrent_inflammatory_fibroid_gastrointestinal_idiopathic_hypereosinophilic_syndrome Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal;Idiopathic hypereosinophilic syndrome Supplemental_disease_name DISEASE_NAME:polysubstance_abuse_susceptibility_to Polysubstance abuse, susceptibility to Supplemental_disease_name DISEASE_NAME:polysyndactyly polysyndactyly Supplemental_disease_name DISEASE_NAME:polysyndactyly_4 Polysyndactyly 4 Supplemental_disease_name DISEASE_NAME:polysyndactyly_4_greig_cephalopolysyndactyly_syndrome_polydactyly_postaxial_type_a1_pallister_hall_syndrome Polysyndactyly 4;Greig cephalopolysyndactyly syndrome;Polydactyly, postaxial, type A1;Pallister-Hall syndrome Supplemental_disease_name DISEASE_NAME:polysyndactyly_4_polydactyly_postaxial_type_a1_congenital_hypothalamic_hamartoma_syndrome_greig_cephalopolysyndactyly_syndrome_pallister_hall_syndrome Polysyndactyly 4;Polydactyly, postaxial, type A1;Congenital hypothalamic hamartoma syndrome;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome Supplemental_disease_name DISEASE_NAME:polysyndactyly_4_polydactyly_postaxial_type_a1_greig_cephalopolysyndactyly_syndrome_congenital_hypothalamic_hamartoma_syndrome_pallister_hall_syndrome Polysyndactyly 4;Polydactyly, postaxial, type A1;Greig cephalopolysyndactyly syndrome;Congenital hypothalamic hamartoma syndrome;Pallister-Hall syndrome Supplemental_disease_name DISEASE_NAME:polysyndactyly_4_polydactyly_postaxial_type_a1_greig_cephalopolysyndactyly_syndrome_pallister_hall_syndrome Polysyndactyly 4;Polydactyly, postaxial, type A1;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome Supplemental_disease_name DISEASE_NAME:polysyndactyly_4_polydactyly_postaxial_type_a1_pallister_hall_syndrome_greig_cephalopolysyndactyly_syndrome Polysyndactyly 4;Polydactyly, postaxial, type A1;Pallister-Hall syndrome;Greig cephalopolysyndactyly syndrome Supplemental_disease_name DISEASE_NAME:polyvalvular_heart_disease_syndrome_congenital_heart_defects_multiple_types_2 Polyvalvular heart disease syndrome;Congenital heart defects, multiple types, 2 Supplemental_disease_name DISEASE_NAME:pomc_related_disorder POMC-related disorder Supplemental_disease_name DISEASE_NAME:pomgnt1_related_disorder POMGNT1-related disorder Supplemental_disease_name DISEASE_NAME:pomgnt2_related_disorder POMGNT2-related disorder Supplemental_disease_name DISEASE_NAME:pomk_related_disorder POMK-related disorder Supplemental_disease_name DISEASE_NAME:pomp_related_disorder POMP-related disorder Supplemental_disease_name DISEASE_NAME:pomt1_related_congenital_myopathy POMT1-related congenital myopathy Supplemental_disease_name DISEASE_NAME:pomt1_related_disorder POMT1-related disorder Supplemental_disease_name DISEASE_NAME:pomt2_related_disorder POMT2-related disorder Supplemental_disease_name DISEASE_NAME:pon1_related_disorder PON1-related disorder Supplemental_disease_name DISEASE_NAME:pon2_related_disorder PON2-related disorder Supplemental_disease_name DISEASE_NAME:pontocerebellar_atrophy Pontocerebellar atrophy Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_hypotonia_and_respiratory_insufficiency_syndrome_neonatal_lethal Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_hypotonia_and_respiratory_insufficiency_syndrome_neonatal_lethal_harel_yoon_syndrome Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal;Harel-Yoon syndrome Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_iia_17 Pontocerebellar hypoplasia, IIA 17 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_12_neurodegeneration_with_brain_iron_accumulation_6 Pontocerebellar hypoplasia, type 12;Neurodegeneration with brain iron accumulation 6 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_16_thyroid_cancer_nonmedullary_2 Pontocerebellar hypoplasia, type 16;Thyroid cancer, nonmedullary, 2 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_1a_neuronopathy_distal_hereditary_motor_autosomal_recessive_10 Pontocerebellar hypoplasia type 1A;Neuronopathy, distal hereditary motor, autosomal recessive 10 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_1a_spinal_muscular_atrophy_neuronopathy_distal_hereditary_motor_autosomal_recessive_amyotrophic_lateral_sclerosis Pontocerebellar hypoplasia type 1A;Spinal muscular atrophy;Neuronopathy, distal hereditary motor, autosomal recessive;Amyotrophic lateral sclerosis Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_1e_neuropathy_hereditary_motor_and_sensory_type_6b Pontocerebellar hypoplasia, type 1E;Neuropathy, hereditary motor and sensory, type 6B Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_2_pontocerebellar_hypoplasia_type_4 Pontocerebellar hypoplasia type 2;Pontocerebellar hypoplasia type 4 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_2a_pontocerebellar_hypoplasia_type_4 Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 4 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_2a_pontocerebellar_hypoplasia_type_5_pontocerebellar_hypoplasia_type_4 Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_4_pontocerebellar_hypoplasia_type_2a_pontocerebellar_hypoplasia_type_5 Pontocerebellar hypoplasia type 4;Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 5 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_4_pontocerebellar_hypoplasia_type_5_methylmalonic_aciduria_and_homocystinuria_type_cbld Pontocerebellar hypoplasia type 4;Pontocerebellar hypoplasia type 5;Methylmalonic aciduria and homocystinuria type cblD Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_5_pontocerebellar_hypoplasia_type_2a_pontocerebellar_hypoplasia_type_4 Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 4 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_5_pontocerebellar_hypoplasia_type_4_methylmalonic_aciduria_and_homocystinuria_type_cbld Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4;Methylmalonic aciduria and homocystinuria type cblD Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_5_pontocerebellar_hypoplasia_type_4_pontocerebellar_hypoplasia_type_2a Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4;Pontocerebellar hypoplasia type 2A Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_type_9_hereditary_spastic_paraplegia_63 Pontocerebellar hypoplasia type 9;Hereditary spastic paraplegia 63 Supplemental_disease_name DISEASE_NAME:pontocerebellar_hypoplasia_with_cataract pontocerebellar hypoplasia with cataract Supplemental_disease_name DISEASE_NAME:pontoneocerebellar_hypoplasia Pontoneocerebellar hypoplasia Supplemental_disease_name DISEASE_NAME:poor_speech_gait_disturbance_cerebellar_ataxia_hearing_impairment_sensory_neuropathy Poor speech;Gait disturbance;Cerebellar ataxia;Hearing impairment;Sensory neuropathy Supplemental_disease_name DISEASE_NAME:pop1_related_disorder POP1-related disorder Supplemental_disease_name DISEASE_NAME:popdc3_related_disorder POPDC3-related disorder Supplemental_disease_name DISEASE_NAME:popliteal_pterygium_syndrome_orofacial_cleft_6_susceptibility_to_van_der_woude_syndrome Popliteal pterygium syndrome;Orofacial cleft 6, susceptibility to;Van der Woude syndrome Supplemental_disease_name DISEASE_NAME:popliteal_pterygium_syndrome_orofacial_cleft_6_susceptibility_to_van_der_woude_syndrome_1 Popliteal pterygium syndrome;Orofacial cleft 6, susceptibility to;Van der Woude syndrome 1 Supplemental_disease_name DISEASE_NAME:popliteal_pterygium_syndrome_van_der_woude_syndrome_1_orofacial_cleft_6_susceptibility_to Popliteal pterygium syndrome;Van der Woude syndrome 1;Orofacial cleft 6, susceptibility to Supplemental_disease_name DISEASE_NAME:popliteal_pterygium_syndrome_van_der_woude_syndrome_orofacial_cleft_6_susceptibility_to Popliteal pterygium syndrome;Van der Woude syndrome;Orofacial cleft 6, susceptibility to Supplemental_disease_name DISEASE_NAME:por_related_disorder POR-related disorder Supplemental_disease_name DISEASE_NAME:porcn_related_developmental_disorders PORCN-Related Developmental Disorders Supplemental_disease_name DISEASE_NAME:porcn_related_disorder PORCN-related disorder Supplemental_disease_name DISEASE_NAME:porencephaly_microcephaly_bilateral_congenital_cataract_syndrome Porencephaly-microcephaly-bilateral congenital cataract syndrome Supplemental_disease_name DISEASE_NAME:porokeratosis_1_mibelli_type Porokeratosis 1, Mibelli type Supplemental_disease_name DISEASE_NAME:porokeratosis_3_disseminated_superficial_actinic_type Porokeratosis 3, disseminated superficial actinic type Supplemental_disease_name DISEASE_NAME:porokeratosis_3_disseminated_superficial_actinic_type_hyperimmunoglobulin_d_with_periodic_fever_mevalonic_aciduria Porokeratosis 3, disseminated superficial actinic type;Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria Supplemental_disease_name DISEASE_NAME:porokeratosis_3_disseminated_superficial_actinic_type_mevalonic_aciduria_hyperimmunoglobulin_d_with_periodic_fever Porokeratosis 3, disseminated superficial actinic type;Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever Supplemental_disease_name DISEASE_NAME:porokeratosis_7_multiple_types Porokeratosis 7, multiple types Supplemental_disease_name DISEASE_NAME:porokeratosis_8_disseminated_superficial_actinic_type Porokeratosis 8, disseminated superficial actinic type Supplemental_disease_name DISEASE_NAME:porokeratosis_9_multiple_types Porokeratosis 9, multiple types Supplemental_disease_name DISEASE_NAME:porokeratotic_adnexal_ostial_nevus Porokeratotic adnexal ostial nevus Supplemental_disease_name DISEASE_NAME:porphobilinogen_synthase_deficiency Porphobilinogen synthase deficiency Supplemental_disease_name DISEASE_NAME:porphyria_acute_hepatic_digenic PORPHYRIA, ACUTE HEPATIC, DIGENIC Supplemental_disease_name DISEASE_NAME:porphyria_acute_intermittent_nonerythroid_variant Porphyria, acute intermittent, nonerythroid variant Supplemental_disease_name DISEASE_NAME:porphyrinuria_cutaneous_photosensitivity Porphyrinuria;Cutaneous photosensitivity Supplemental_disease_name DISEASE_NAME:port_wine_stain_with_oculocutaneous_melanosis Port-wine stain with oculocutaneous melanosis Supplemental_disease_name DISEASE_NAME:portal_hypertension_noncirrhotic Portal hypertension, noncirrhotic Supplemental_disease_name DISEASE_NAME:portal_hypertension_noncirrhotic_1 Portal hypertension, noncirrhotic, 1 Supplemental_disease_name DISEASE_NAME:portal_hypertension_noncirrhotic_1_mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_4 Portal hypertension, noncirrhotic, 1;Mitochondrial DNA depletion syndrome 3 (hepatocerebral type);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Supplemental_disease_name DISEASE_NAME:portal_hypertension_noncirrhotic_2 Portal hypertension, noncirrhotic, 2 Supplemental_disease_name DISEASE_NAME:portal_hypertension_noncirrhotic_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_4_mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type Portal hypertension, noncirrhotic;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Supplemental_disease_name DISEASE_NAME:positional_foot_deformity Positional foot deformity Supplemental_disease_name DISEASE_NAME:positive_thumb_sign_tall_stature_pectus_excavatum Positive thumb sign;Tall stature;Pectus excavatum Supplemental_disease_name DISEASE_NAME:possible_mitochondrial_disorder_nuclear_genes Possible mitochondrial disorder - nuclear genes Supplemental_disease_name DISEASE_NAME:post_covid_19_disorder Post-COVID-19 disorder Supplemental_disease_name DISEASE_NAME:postanesthetic_apnea Postanesthetic apnea Supplemental_disease_name DISEASE_NAME:postaxial_foot_polydactyly_truncal_obesity_moderate_intellectual_disability Postaxial foot polydactyly;Truncal obesity;Moderate intellectual disability Supplemental_disease_name DISEASE_NAME:postaxial_polydactyly_anterior_pituitary_anomalies_facial_dysmorphism_syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:postaxial_polydactyly_anterior_pituitary_anomalies_facial_dysmorphism_syndrome_holoprosencephaly_9 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome;Holoprosencephaly 9 Supplemental_disease_name DISEASE_NAME:postaxial_polydactyly_delayed_speech_and_language_development Postaxial polydactyly;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:postaxial_polydactyly_type_a Postaxial polydactyly type A Supplemental_disease_name DISEASE_NAME:postaxial_polydactyly_type_a1_b Postaxial polydactyly, type A1/B Supplemental_disease_name DISEASE_NAME:postaxial_polydactyly_type_a_postaxial_polydactyly_type_b Postaxial polydactyly type A;Postaxial polydactyly type B Supplemental_disease_name DISEASE_NAME:postaxial_polydactyly_type_b Postaxial polydactyly type B Supplemental_disease_name DISEASE_NAME:posterior_column_ataxia_retinitis_pigmentosa_syndrome_neurodevelopmental_disorder_with_microcephaly_absent_speech_and_hypotonia Posterior column ataxia-retinitis pigmentosa syndrome;Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia Supplemental_disease_name DISEASE_NAME:posterior_hypospadias_partial_androgen_insensitivity_syndrome Posterior hypospadias;Partial androgen insensitivity syndrome Supplemental_disease_name DISEASE_NAME:posterior_polymorphous_corneal_dystrophy_3_corneal_dystrophy_fuchs_endothelial_6 Posterior polymorphous corneal dystrophy 3;Corneal dystrophy, Fuchs endothelial, 6 Supplemental_disease_name DISEASE_NAME:posterior_predominant_lissencephaly Posterior Predominant Lissencephaly Supplemental_disease_name DISEASE_NAME:postlingual_sensorineural_hearing_impairment Postlingual sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:postmenopausal_osteoporosis Postmenopausal osteoporosis Supplemental_disease_name DISEASE_NAME:postnatal_growth_retardation_neurodevelopmental_abnormality_abnormality_of_the_immune_system_abnormality_of_blood_and_blood_forming_tissues_abnormal_facial_shape Postnatal growth retardation;Neurodevelopmental abnormality;Abnormality of the immune system;Abnormality of blood and blood-forming tissues;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:pot1_related_disorder POT1-related disorder Supplemental_disease_name DISEASE_NAME:potassium_aggravated_myotonia Potassium-aggravated myotonia Supplemental_disease_name DISEASE_NAME:potassium_aggravated_myotonia_hyperkalemic_periodic_paralysis_hypokalemic_periodic_paralysis_type_2_paramyotonia_congenita_of_von_eulenburg_congenital_myopathy_22a_classic Potassium-aggravated myotonia;Hyperkalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of Von Eulenburg;Congenital myopathy 22A, classic Supplemental_disease_name DISEASE_NAME:potassium_aggravated_myotonia_paramyotonia_congenita_of_von_eulenburg_hypokalemic_periodic_paralysis_type_2_congenital_myasthenic_syndrome_16_hyperkalemic_periodic_paralysis Potassium-aggravated myotonia;Paramyotonia congenita of Von Eulenburg;Hypokalemic periodic paralysis, type 2;Congenital myasthenic syndrome 16;Hyperkalemic periodic paralysis Supplemental_disease_name DISEASE_NAME:pou1f1_related_disorder POU1F1-related disorder Supplemental_disease_name DISEASE_NAME:pou3f2_associated_disorder POU3F2-associated disorder Supplemental_disease_name DISEASE_NAME:pou3f2_related_disorder POU3F2-related disorder Supplemental_disease_name DISEASE_NAME:pou3f3_related_disorder POU3F3-related disorder Supplemental_disease_name DISEASE_NAME:pou3f4_related_disorder POU3F4-related disorder Supplemental_disease_name DISEASE_NAME:pou4f1_related_disorder POU4F1-related disorder Supplemental_disease_name DISEASE_NAME:pou4f3_related_disorder POU4F3-related disorder Supplemental_disease_name DISEASE_NAME:pou6f2_related_disorder POU6F2-related disorder Supplemental_disease_name DISEASE_NAME:ppa2_related_disorder PPA2-related disorder Supplemental_disease_name DISEASE_NAME:ppan_p2ry11_related_disorder PPAN-P2RY11-related disorder Supplemental_disease_name DISEASE_NAME:ppara_related_disorder PPARA-related disorder Supplemental_disease_name DISEASE_NAME:pparg_polymorphism PPARG POLYMORPHISM Supplemental_disease_name DISEASE_NAME:pparg_related_disorder PPARG-related disorder Supplemental_disease_name DISEASE_NAME:pparg_related_familial_partial_lipodystrophy_obesity_carotid_intimal_medial_thickness_1_type_2_diabetes_mellitus PPARG-related familial partial lipodystrophy;Obesity;CAROTID INTIMAL MEDIAL THICKNESS 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:pparg_related_familial_partial_lipodystrophy_type_2_diabetes_mellitus PPARG-related familial partial lipodystrophy;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:ppargc1a_related_disorder PPARGC1A-related disorder Supplemental_disease_name DISEASE_NAME:ppargc1b_polymorphism PPARGC1B polymorphism Supplemental_disease_name DISEASE_NAME:ppcs_related_disorder PPCS-related disorder Supplemental_disease_name DISEASE_NAME:ppfia1_related_disorder PPFIA1-related disorder Supplemental_disease_name DISEASE_NAME:ppfia2_related_neurodevelopmental_disorder PPFIA2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ppfia3_associated_neurodevelopmental_disorder PPFIA3-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ppfia3_related_disorder PPFIA3-related disorder Supplemental_disease_name DISEASE_NAME:ppfia3_related_neurodevelopmental_disorder PPFIA3-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ppfibp1_related_disorder PPFIBP1-related disorder Supplemental_disease_name DISEASE_NAME:ppfibp2_related_disorder PPFIBP2-related disorder Supplemental_disease_name DISEASE_NAME:ppib_related_disorder PPIB-related disorder Supplemental_disease_name DISEASE_NAME:ppip5k2_related_disorder PPIP5K2-related disorder Supplemental_disease_name DISEASE_NAME:ppm1d_related_disorder PPM1D-related disorder Supplemental_disease_name DISEASE_NAME:ppm1k_related_disorder PPM1K-related disorder Supplemental_disease_name DISEASE_NAME:ppox_related_disorder PPOX-related disorder Supplemental_disease_name DISEASE_NAME:ppp1cb_related_disorder PPP1CB-related disorder Supplemental_disease_name DISEASE_NAME:ppp1r12a_related_disorder PPP1R12A-related disorder Supplemental_disease_name DISEASE_NAME:ppp1r13b_related_disorder PPP1R13B related disorder Supplemental_disease_name DISEASE_NAME:ppp1r13l_associated_cardiac_phenotype PPP1R13L-associated cardiac phenotype Supplemental_disease_name DISEASE_NAME:ppp1r13l_related_disorder PPP1R13L-related disorder Supplemental_disease_name DISEASE_NAME:ppp1r15b_related_disorder PPP1R15B-related disorder Supplemental_disease_name DISEASE_NAME:ppp1r21_related_disorder PPP1R21-related disorder Supplemental_disease_name DISEASE_NAME:ppp1r3a_related_disorder PPP1R3A-related disorder Supplemental_disease_name DISEASE_NAME:ppp1r3f_associated_neurodevelopmental_disorder PPP1R3F Associated Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:ppp1r3f_related_disorder PPP1R3F-related disorder Supplemental_disease_name DISEASE_NAME:ppp1r3f_related_neurodevelopmental_disorder PPP1R3F-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ppp1r9a_related_disorder PPP1R9A-related disorder Supplemental_disease_name DISEASE_NAME:ppp1r9b_related_disorder PPP1R9B-related disorder Supplemental_disease_name DISEASE_NAME:ppp2ca_related_disorder PPP2CA-related disorder Supplemental_disease_name DISEASE_NAME:ppp2r1a_related_disorder PPP2R1A-related disorder Supplemental_disease_name DISEASE_NAME:ppp2r1a_related_neurodevelopmental_disorders PPP2R1A-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:ppp2r1b_related_disorder PPP2R1B-related disorder Supplemental_disease_name DISEASE_NAME:ppp2r2b_related_disorder PPP2R2B-related disorder Supplemental_disease_name DISEASE_NAME:ppp2r3a_related_disorder PPP2R3A-related disorder Supplemental_disease_name DISEASE_NAME:ppp2r3c_related_disorder PPP2R3C-related disorder Supplemental_disease_name DISEASE_NAME:ppp2r5b_related_disorder PPP2R5B-related disorder Supplemental_disease_name DISEASE_NAME:ppp2r5c_related_disorder PPP2R5C-related disorder Supplemental_disease_name DISEASE_NAME:ppp2r5d_related_disorder PPP2R5D-related disorder Supplemental_disease_name DISEASE_NAME:ppp3ca_related_disorder PPP3CA-related disorder Supplemental_disease_name DISEASE_NAME:ppp5c_related_disorder PPP5C-related disorder Supplemental_disease_name DISEASE_NAME:ppr12_associated_neurodevelopmental_disorder PPR12-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:pprc1_related_conditon PPRC1-related conditon Supplemental_disease_name DISEASE_NAME:pprc1_related_disorder PPRC1-related disorder Supplemental_disease_name DISEASE_NAME:ppt1_related_disorder PPT1-related disorder Supplemental_disease_name DISEASE_NAME:pqbp1_related_disorder PQBP1-related disorder Supplemental_disease_name DISEASE_NAME:prader_willi_like_syndrome_prader_willi_syndrome Prader-Willi-like syndrome;Prader-Willi syndrome Supplemental_disease_name DISEASE_NAME:prader_willi_syndrome_angelman_syndrome Prader-Willi syndrome;Angelman syndrome Supplemental_disease_name DISEASE_NAME:prader_willi_syndrome_developmental_delay_with_autism_spectrum_disorder_and_gait_instability Prader-Willi syndrome;Developmental delay with autism spectrum disorder and gait instability Supplemental_disease_name DISEASE_NAME:prader_willi_syndrome_schaaf_yang_syndrome Prader-Willi syndrome;Schaaf-Yang syndrome Supplemental_disease_name DISEASE_NAME:prader_willi_syndrome_skin_hair_eye_pigmentation_1_blue_nonblue_eyes_developmental_delay_with_autism_spectrum_disorder_and_gait_instability Prader-Willi syndrome;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Developmental delay with autism spectrum disorder and gait instability Supplemental_disease_name DISEASE_NAME:pravastatin_response_efficacy pravastatin response - Efficacy Supplemental_disease_name DISEASE_NAME:pravastatin_response_toxicity pravastatin response - Toxicity Supplemental_disease_name DISEASE_NAME:prb3m_null PRB3M(NULL) Supplemental_disease_name DISEASE_NAME:prb3s_cys PRB3S(CYS) Supplemental_disease_name DISEASE_NAME:prdm12_related_disorder PRDM12-related disorder Supplemental_disease_name DISEASE_NAME:prdm13_related_disorder PRDM13-related disorder Supplemental_disease_name DISEASE_NAME:prdm16_related_congenital_heart_disease PRDM16-related congenital heart disease Supplemental_disease_name DISEASE_NAME:prdm16_related_disorder PRDM16-related disorder Supplemental_disease_name DISEASE_NAME:prdm1_related_disorder PRDM1-related disorder Supplemental_disease_name DISEASE_NAME:prdm5_related_disorder PRDM5-related disorder Supplemental_disease_name DISEASE_NAME:prdm6_related_disorder PRDM6-related disorder Supplemental_disease_name DISEASE_NAME:prdm8_related_disorder PRDM8-related disorder Supplemental_disease_name DISEASE_NAME:prdm9_related_disorder PRDM9-related disorder Supplemental_disease_name DISEASE_NAME:prdx1_related_disorder PRDX1-related disorder Supplemental_disease_name DISEASE_NAME:precocious_puberty_central_2 Precocious puberty, central, 2 Supplemental_disease_name DISEASE_NAME:precocious_puberty_central_2_prader_willi_syndrome Precocious puberty, central, 2;Prader-Willi syndrome Supplemental_disease_name DISEASE_NAME:precocious_puberty_in_males Precocious puberty in males Supplemental_disease_name DISEASE_NAME:precursor_b_cell_acute_lymphoblastic_leukemia Precursor B-cell acute lymphoblastic leukemia Supplemental_disease_name DISEASE_NAME:precursor_cell_lymphoblastic_leukemia_lymphoma Precursor Cell Lymphoblastic Leukemia-Lymphoma Supplemental_disease_name DISEASE_NAME:predisposition_to_cancer Predisposition to cancer Supplemental_disease_name DISEASE_NAME:predisposition_to_dissection Predisposition to dissection Supplemental_disease_name DISEASE_NAME:predisposition_to_invasive_fungal_disease_due_to_card9_deficiency Predisposition to invasive fungal disease due to CARD9 deficiency Supplemental_disease_name DISEASE_NAME:predisposition_to_medulloblastoma Predisposition to medulloblastoma Supplemental_disease_name DISEASE_NAME:predisposition_to_myelodysplastic_syndrome Predisposition to myelodysplastic syndrome Supplemental_disease_name DISEASE_NAME:predisposition_to_neuroblastoma Predisposition to neuroblastoma Supplemental_disease_name DISEASE_NAME:predisposition_to_thrombocytopenia Predisposition to thrombocytopenia Supplemental_disease_name DISEASE_NAME:predisposition_to_wilm_s_tumor_fbxw7_related Predisposition to Wilm's tumor, FBXW7-related Supplemental_disease_name DISEASE_NAME:predisposition_to_wilms_tumor Predisposition to Wilms tumor Supplemental_disease_name DISEASE_NAME:predisposition_to_wilms_tumor_ctr9_related Predisposition to Wilms tumor, CTR9-related Supplemental_disease_name DISEASE_NAME:prednisolone_response Prednisolone response Supplemental_disease_name DISEASE_NAME:preeclampsia_eclampsia_1_alzheimer_disease_type_1_ischemic_stroke_essential_hypertension_genetic Preeclampsia/eclampsia 1;Alzheimer disease type 1;Ischemic stroke;Essential hypertension, genetic Supplemental_disease_name DISEASE_NAME:preeclampsia_eclampsia_1_essential_hypertension_genetic_ischemic_stroke_alzheimer_disease_type_1 Preeclampsia/eclampsia 1;Essential hypertension, genetic;Ischemic stroke;Alzheimer disease type 1 Supplemental_disease_name DISEASE_NAME:preeclampsia_eclampsia_4 Preeclampsia/eclampsia 4 Supplemental_disease_name DISEASE_NAME:preeclampsia_eclampsia_5 Preeclampsia/eclampsia 5 Supplemental_disease_name DISEASE_NAME:pregnancy_loss_recurrent_susceptibility_to_1 Pregnancy loss, recurrent, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:pregnancy_loss_recurrent_susceptibility_to_1_congenital_factor_v_deficiency_budd_chiari_syndrome_ischemic_stroke_thrombophilia_due_to_activated_protein_c_resistance Pregnancy loss, recurrent, susceptibility to, 1;Congenital factor V deficiency;Budd-Chiari syndrome;Ischemic stroke;Thrombophilia due to activated protein C resistance Supplemental_disease_name DISEASE_NAME:pregnancy_loss_recurrent_susceptibility_to_1_ischemic_stroke_congenital_factor_v_deficiency_thrombophilia_due_to_activated_protein_c_resistance_budd_chiari_syndrome Pregnancy loss, recurrent, susceptibility to, 1;Ischemic stroke;Congenital factor V deficiency;Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome Supplemental_disease_name DISEASE_NAME:pregnancy_loss_recurrent_susceptibility_to_2 Pregnancy loss, recurrent, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:pregnancy_loss_recurrent_susceptibility_to_2_congenital_prothrombin_deficiency_ischemic_stroke_thrombophilia_due_to_thrombin_defect Pregnancy loss, recurrent, susceptibility to, 2;Congenital prothrombin deficiency;Ischemic stroke;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:pregnancy_loss_recurrent_susceptibility_to_2_ischemic_stroke_congenital_prothrombin_deficiency_thrombophilia_due_to_thrombin_defect Pregnancy loss, recurrent, susceptibility to, 2;Ischemic stroke;Congenital prothrombin deficiency;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:pregnancy_loss_recurrent_susceptibility_to_3 Pregnancy loss, recurrent, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:preimplantation_embryonic_lethality Preimplantation embryonic lethality Supplemental_disease_name DISEASE_NAME:preimplantation_embryonic_lethality_1 Preimplantation embryonic lethality 1 Supplemental_disease_name DISEASE_NAME:preimplantation_lethality Preimplantation lethality Supplemental_disease_name DISEASE_NAME:prekallikrein_deficiency Prekallikrein deficiency Supplemental_disease_name DISEASE_NAME:prelingual_sensorineural_hearing_impairment Prelingual sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:prelingual_sensorineural_hearing_impairment_heterochromia_iridis_poliosis Prelingual sensorineural hearing impairment;Heterochromia iridis;Poliosis Supplemental_disease_name DISEASE_NAME:prelp_related_osteosclerosis PRELP-related osteosclerosis Supplemental_disease_name DISEASE_NAME:premature_birth Premature birth Supplemental_disease_name DISEASE_NAME:premature_chromatid_separation_trait Premature chromatid separation trait Supplemental_disease_name DISEASE_NAME:premature_chromatid_separation_trait_carcinoma_of_colon_mosaic_variegated_aneuploidy_syndrome_1 Premature chromatid separation trait;Carcinoma of colon;Mosaic variegated aneuploidy syndrome 1 Supplemental_disease_name DISEASE_NAME:premature_chromatid_separation_trait_colorectal_cancer_mosaic_variegated_aneuploidy_syndrome_1 Premature chromatid separation trait;Colorectal cancer;Mosaic variegated aneuploidy syndrome 1 Supplemental_disease_name DISEASE_NAME:premature_chromatid_separation_trait_mosaic_variegated_aneuploidy_syndrome_1_colorectal_cancer Premature chromatid separation trait;Mosaic variegated aneuploidy syndrome 1;Colorectal cancer Supplemental_disease_name DISEASE_NAME:premature_coronary_artery_atherosclerosis Premature coronary artery atherosclerosis Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_10 Premature ovarian failure 10 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_11 Premature ovarian failure 11 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_12 Premature ovarian failure 12 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_12_spermatogenic_failure_15 Premature ovarian failure 12;Spermatogenic failure 15 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_13 Premature ovarian failure 13 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_13_spermatogenic_failure_74 Premature ovarian failure 13;Spermatogenic failure 74 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_14 Premature ovarian failure 14 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_15 Premature ovarian failure 15 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_15_spermatogenic_failure_28 Premature ovarian failure 15;Spermatogenic failure 28 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_16 Premature ovarian failure 16 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_17 Premature ovarian failure 17 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_17_fanconi_anemia_complementation_group_u_spermatogenic_failure_50 Premature ovarian failure 17;Fanconi anemia complementation group U;Spermatogenic failure 50 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_17_spermatogenic_failure_50_fanconi_anemia_complementation_group_u Premature ovarian failure 17;Spermatogenic failure 50;Fanconi anemia complementation group U Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_1_fragile_x_associated_tremor_ataxia_syndrome_fragile_x_syndrome Premature ovarian failure 1;Fragile X-associated tremor/ataxia syndrome;Fragile X syndrome Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_20 Premature ovarian failure 20 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_20_spermatogenic_failure_2 Premature ovarian failure 20;Spermatogenic failure 2 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_21 Premature ovarian failure 21 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_22 Premature ovarian failure 22 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_22_spermatogenic_failure_88 Premature ovarian failure 22;Spermatogenic failure 88 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_23 Premature ovarian failure 23 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_23_spermatogenic_failure_22 Premature ovarian failure 23;Spermatogenic failure 22 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_24 Premature ovarian failure 24 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_25 Premature ovarian failure 25 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_26 Premature ovarian failure 26 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_2a Premature ovarian failure 2A Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_2b Premature ovarian failure 2B Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_3 Premature ovarian failure 3 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_3_blepharophimosis_ptosis_and_epicanthus_inversus_syndrome Premature ovarian failure 3;Blepharophimosis, ptosis, and epicanthus inversus syndrome Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_4 Premature ovarian failure 4 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_5 Premature ovarian failure 5 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_6 Premature ovarian failure 6 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_7 Premature ovarian failure 7 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_8 Premature ovarian failure 8 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_8_spermatogenic_failure_61 Premature ovarian failure 8;Spermatogenic failure 61 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_9 Premature ovarian failure 9 Supplemental_disease_name DISEASE_NAME:premature_ovarian_insufficiency_female_infertility Premature ovarian insufficiency;Female infertility Supplemental_disease_name DISEASE_NAME:premature_ventricular_contraction Premature ventricular contraction Supplemental_disease_name DISEASE_NAME:premature_ventricular_contraction_brugada_syndrome Premature ventricular contraction;Brugada syndrome Supplemental_disease_name DISEASE_NAME:premature_ventricular_contraction_primary_dilated_cardiomyopathy Premature ventricular contraction;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:premenstrual_dysphoric_disorder Premenstrual dysphoric disorder Supplemental_disease_name DISEASE_NAME:prenatal_anemia Prenatal anemia Supplemental_disease_name DISEASE_NAME:prenatal_lig4_syndrome_with_aqueductal_stenosis prenatal LIG4 syndrome with aqueductal stenosis Supplemental_disease_name DISEASE_NAME:prepl_related_disorder PREPL-related disorder Supplemental_disease_name DISEASE_NAME:presynaptic_congenital_myasthenic_syndrome Presynaptic congenital myasthenic syndrome Supplemental_disease_name DISEASE_NAME:preterm_intraventricular_hemorrhage Preterm intraventricular hemorrhage Supplemental_disease_name DISEASE_NAME:preterm_premature_rupture_of_membranes Preterm premature rupture of membranes Supplemental_disease_name DISEASE_NAME:pretibial_dystrophic_epidermolysis_bullosa_epidermolysis_bullosa_pruriginosa_recessive_dystrophic_epidermolysis_bullosa_nonsyndromic_congenital_nail_disorder_8_transient_bullous_dermolysis_of_the_newborn Pretibial dystrophic epidermolysis bullosa;Epidermolysis bullosa pruriginosa;Recessive dystrophic epidermolysis bullosa;Nonsyndromic congenital nail disorder 8;Transient bullous dermolysis of the newborn Supplemental_disease_name DISEASE_NAME:pretibial_dystrophic_epidermolysis_bullosa_epidermolysis_bullosa_pruriginosa_recessive_dystrophic_epidermolysis_bullosa_transient_bullous_dermolysis_of_the_newborn Pretibial dystrophic epidermolysis bullosa;Epidermolysis bullosa pruriginosa;Recessive dystrophic epidermolysis bullosa;Transient bullous dermolysis of the newborn Supplemental_disease_name DISEASE_NAME:pretibial_dystrophic_epidermolysis_bullosa_recessive_dystrophic_epidermolysis_bullosa_transient_bullous_dermolysis_of_the_newborn_epidermolysis_bullosa_pruriginosa Pretibial dystrophic epidermolysis bullosa;Recessive dystrophic epidermolysis bullosa;Transient bullous dermolysis of the newborn;Epidermolysis bullosa pruriginosa Supplemental_disease_name DISEASE_NAME:prex1_related_disorder PREX1-related disorder Supplemental_disease_name DISEASE_NAME:prex2_related_disorder PREX2-related disorder Supplemental_disease_name DISEASE_NAME:prf1_related_disorder PRF1-related disorder Supplemental_disease_name DISEASE_NAME:prg4_related_disorder PRG4-related disorder Supplemental_disease_name DISEASE_NAME:prickle1_related_disorder PRICKLE1-related disorder Supplemental_disease_name DISEASE_NAME:prickle2_associated_epilepsy_syndrome PRICKLE2-associated epilepsy syndrome Supplemental_disease_name DISEASE_NAME:prickle2_associated_neurodevelopmental_disorder PRICKLE2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:prickle2_related_disorder PRICKLE2-related disorder Supplemental_disease_name DISEASE_NAME:prickle2_related_neurodevelopmental_disorder PRICKLE2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:prima1_related_disorder PRIMA1-related disorder Supplemental_disease_name DISEASE_NAME:primary_amenorrhea Primary amenorrhea Supplemental_disease_name DISEASE_NAME:primary_autosomal_recessive_microcephaly Primary autosomal recessive microcephaly Supplemental_disease_name DISEASE_NAME:primary_bone_dysplasia_with_multiple_joint_dislocations Primary bone dysplasia with multiple joint dislocations Supplemental_disease_name DISEASE_NAME:primary_cd59_deficiency Primary CD59 deficiency Supplemental_disease_name DISEASE_NAME:primary_central_nervous_system_lymphoma Primary central nervous system lymphoma Supplemental_disease_name DISEASE_NAME:primary_ciliary_dyskinesia_25_dyslexia_susceptibility_to_1 Primary ciliary dyskinesia 25;Dyslexia, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:primary_ciliary_dyskinesia_abdominal_situs_inversus Primary ciliary dyskinesia;Abdominal situs inversus Supplemental_disease_name DISEASE_NAME:primary_ciliary_dyskinesia_absent_inner_and_outer_dynein_arms_situs_inversus Primary ciliary dyskinesia;Absent inner and outer dynein arms;Situs inversus Supplemental_disease_name DISEASE_NAME:primary_ciliary_dyskinesia_dnah5_related Primary Ciliary Dyskinesia (DNAH5-related) Supplemental_disease_name DISEASE_NAME:primary_ciliary_dyskinesia_male_infertility Primary ciliary dyskinesia;Male infertility Supplemental_disease_name DISEASE_NAME:primary_ciliary_dyskinesia_primary_ciliary_dyskinesia_21 Primary ciliary dyskinesia;Primary ciliary dyskinesia 21 Supplemental_disease_name DISEASE_NAME:primary_ciliary_dyskinesia_situs_inversus Primary ciliary dyskinesia;Situs inversus Supplemental_disease_name DISEASE_NAME:primary_ciliary_dyskinesia_spermatogenic_failure_46 Primary ciliary dyskinesia;Spermatogenic failure 46 Supplemental_disease_name DISEASE_NAME:primary_colorectal_cancer Primary colorectal cancer Supplemental_disease_name DISEASE_NAME:primary_degenerative_dementia_of_the_alzheimer_type_presenile_onset Primary degenerative dementia of the Alzheimer type, presenile onset Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_abnormal_muscle_fiber_dystrophin_expression_calf_muscle_hypertrophy_progressive_muscle_weakness Primary dilated cardiomyopathy;Abnormal muscle fiber dystrophin expression;Calf muscle hypertrophy;Progressive muscle weakness Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_arrhythmogenic_right_ventricular_cardiomyopathy Primary dilated cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_arrhythmogenic_right_ventricular_cardiomyopathy_atrial_fibrillation Primary dilated cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy;Atrial fibrillation Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_asymmetric_septal_hypertrophy Primary dilated cardiomyopathy;Asymmetric septal hypertrophy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_atrial_fibrillation Primary dilated cardiomyopathy;Atrial fibrillation Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2g Primary dilated cardiomyopathy;Autosomal recessive limb-girdle muscular dystrophy type 2G Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2g_primary_familial_hypertrophic_cardiomyopathy Primary dilated cardiomyopathy;Autosomal recessive limb-girdle muscular dystrophy type 2G;Primary familial hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure Primary dilated cardiomyopathy;Autosomal recessive limb-girdle muscular dystrophy type 2J;Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_brugada_syndrome Primary dilated cardiomyopathy;Brugada syndrome Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_cardiomyopathy Primary dilated cardiomyopathy;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_cardiomyopathy_heart_failure Primary dilated cardiomyopathy;Cardiomyopathy;Heart failure Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_cardiomyopathy_hypertrophic_cardiomyopathy Primary dilated cardiomyopathy;Cardiomyopathy;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_congenital_myopathy Primary dilated cardiomyopathy;Congenital myopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_heart_failure Primary dilated cardiomyopathy;Heart failure Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_hemiplegia_migraine Primary dilated cardiomyopathy;Hemiplegia;Migraine Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_high_myopia Primary dilated cardiomyopathy;High myopia Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_hutchinson_gilford_syndrome Primary dilated cardiomyopathy;Hutchinson-Gilford syndrome Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_hypertrophic_cardiomyopathy Primary dilated cardiomyopathy;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_hypertrophic_cardiomyopathy_cardiomyopathy Primary dilated cardiomyopathy;Hypertrophic cardiomyopathy;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_hypertrophic_cardiomyopathy_sudden_unexplained_death Primary dilated cardiomyopathy;Hypertrophic cardiomyopathy;Sudden unexplained death Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_laminopathy Primary dilated cardiomyopathy;Laminopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_left_ventricular_noncompaction Primary dilated cardiomyopathy;Left ventricular noncompaction Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_left_ventricular_noncompaction_1_hypertrophic_cardiomyopathy_4 Primary dilated cardiomyopathy;Left ventricular noncompaction 1;Hypertrophic cardiomyopathy 4 Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_left_ventricular_noncompaction_cardiomyopathy Primary dilated cardiomyopathy;Left ventricular noncompaction cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_left_ventricular_noncompaction_cardiomyopathy_ventricular_tachycardia Primary dilated cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_long_qt_syndrome Primary dilated cardiomyopathy;Long QT syndrome Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_low_output_congestive_heart_failure_cardiomyopathy_noncompaction_cardiomyopathy Primary dilated cardiomyopathy;Low-output congestive heart failure;Cardiomyopathy;Noncompaction cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_myocarditis Primary dilated cardiomyopathy;Myocarditis Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_neuromuscular_disease Primary dilated cardiomyopathy;Neuromuscular disease Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_orofacial_cleft Primary dilated cardiomyopathy;Orofacial cleft Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_skeletal_myopathy_ophthalmoplegia_multiple_joint_contractures Primary dilated cardiomyopathy;Skeletal myopathy;Ophthalmoplegia;Multiple joint contractures Supplemental_disease_name DISEASE_NAME:primary_dilated_cardiomyopathy_systolic_heart_failure Primary dilated cardiomyopathy;Systolic heart failure Supplemental_disease_name DISEASE_NAME:primary_dysautonomia Primary dysautonomia Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia Primary erythromelalgia Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_paroxysmal_extreme_pain_disorder_neuropathy_hereditary_sensory_and_autonomic_type_2a Primary erythromelalgia;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Paroxysmal extreme pain disorder;Neuropathy, hereditary sensory and autonomic, type 2A Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_neuropathy_hereditary_sensory_and_autonomic_type_2a_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_paroxysmal_extreme_pain_disorder Primary erythromelalgia;Neuropathy, hereditary sensory and autonomic, type 2A;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Paroxysmal extreme pain disorder Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_neuropathy_hereditary_sensory_and_autonomic_type_2a_paroxysmal_extreme_pain_disorder_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive Primary erythromelalgia;Neuropathy, hereditary sensory and autonomic, type 2A;Paroxysmal extreme pain disorder;Channelopathy-associated congenital insensitivity to pain, autosomal recessive Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_neuropathy_hereditary_sensory_and_autonomic_type_2a_paroxysmal_extreme_pain_disorder_generalized_epilepsy_with_febrile_seizures_plus Primary erythromelalgia;Neuropathy, hereditary sensory and autonomic, type 2A;Paroxysmal extreme pain disorder;Generalized epilepsy with febrile seizures plus Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_neuropathy_hereditary_sensory_and_autonomic_type_2a_paroxysmal_extreme_pain_disorder_generalized_epilepsy_with_febrile_seizures_plus_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive Primary erythromelalgia;Neuropathy, hereditary sensory and autonomic, type 2A;Paroxysmal extreme pain disorder;Generalized epilepsy with febrile seizures plus;Channelopathy-associated congenital insensitivity to pain, autosomal recessive Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_paroxysmal_extreme_pain_disorder Primary erythromelalgia;Paroxysmal extreme pain disorder Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_paroxysmal_extreme_pain_disorder_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive Primary erythromelalgia;Paroxysmal extreme pain disorder;Channelopathy-associated congenital insensitivity to pain, autosomal recessive Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_paroxysmal_extreme_pain_disorder_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_neuropathy_hereditary_sensory_and_autonomic_type_2a Primary erythromelalgia;Paroxysmal extreme pain disorder;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Neuropathy, hereditary sensory and autonomic, type 2A Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_7 Primary erythromelalgia;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7 Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia_severe_myoclonic_epilepsy_in_infancy_paroxysmal_extreme_pain_disorder_channelopathy_associated_congenital_insensitivity_to_pain_autosomal_recessive_generalized_epilepsy_with_febrile_seizures_plus_type_7 Primary erythromelalgia;Severe myoclonic epilepsy in infancy;Paroxysmal extreme pain disorder;Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Generalized epilepsy with febrile seizures plus, type 7 Supplemental_disease_name DISEASE_NAME:primary_failure_of_tooth_eruption_chondrodysplasia_blomstrand_type_eiken_syndrome_metaphyseal_chondrodysplasia_jansen_type Primary failure of tooth eruption;Chondrodysplasia Blomstrand type;Eiken syndrome;Metaphyseal chondrodysplasia, Jansen type Supplemental_disease_name DISEASE_NAME:primary_failure_of_tooth_eruption_chondrodysplasia_blomstrand_type_metaphyseal_chondrodysplasia_jansen_type_eiken_syndrome Primary failure of tooth eruption;Chondrodysplasia Blomstrand type;Metaphyseal chondrodysplasia, Jansen type;Eiken syndrome Supplemental_disease_name DISEASE_NAME:primary_failure_of_tooth_eruption_metaphyseal_chondrodysplasia_jansen_type_chondrodysplasia_blomstrand_type_eiken_syndrome Primary failure of tooth eruption;Metaphyseal chondrodysplasia, Jansen type;Chondrodysplasia Blomstrand type;Eiken syndrome Supplemental_disease_name DISEASE_NAME:primary_failure_of_tooth_eruption_metaphyseal_chondrodysplasia_jansen_type_eiken_syndrome_chondrodysplasia_blomstrand_type Primary failure of tooth eruption;Metaphyseal chondrodysplasia, Jansen type;Eiken syndrome;Chondrodysplasia Blomstrand type Supplemental_disease_name DISEASE_NAME:primary_familial_dilated_cardiomyopathy Primary familial dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_familial_dilated_cardiomyopathy_peripheral_neuropathy Primary familial dilated cardiomyopathy;Peripheral neuropathy Supplemental_disease_name DISEASE_NAME:primary_familial_hypertrophic_cardiomyopathy Primary familial hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_familial_hypertrophic_cardiomyopathy_dilated_cardiomyopathy_1aa Primary familial hypertrophic cardiomyopathy;Dilated cardiomyopathy 1AA Supplemental_disease_name DISEASE_NAME:primary_familial_hypertrophic_cardiomyopathy_distal_myopathy_with_posterior_leg_and_anterior_hand_involvement_myofibrillar_myopathy_5 Primary familial hypertrophic cardiomyopathy;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5 Supplemental_disease_name DISEASE_NAME:primary_familial_hypertrophic_cardiomyopathy_hypertrophic_cardiomyopathy_25 Primary familial hypertrophic cardiomyopathy;Hypertrophic cardiomyopathy 25 Supplemental_disease_name DISEASE_NAME:primary_familial_hypertrophic_cardiomyopathy_long_qt_syndrome Primary familial hypertrophic cardiomyopathy;Long QT syndrome Supplemental_disease_name DISEASE_NAME:primary_familial_polycythemia_due_to_epo_receptor_mutation Primary familial polycythemia due to EPO receptor mutation Supplemental_disease_name DISEASE_NAME:primary_generalized_epilepsy Primary generalized epilepsy Supplemental_disease_name DISEASE_NAME:primary_hyperoxaluria_type_i Primary hyperoxaluria, type I Supplemental_disease_name DISEASE_NAME:primary_hyperoxaluria_type_ii Primary hyperoxaluria, type II Supplemental_disease_name DISEASE_NAME:primary_immune_deficiency Primary Immune Deficiency Supplemental_disease_name DISEASE_NAME:primary_immunodeficiency_or_monogenic_inflammatory_bowel_disease Primary immunodeficiency or monogenic inflammatory bowel disease Supplemental_disease_name DISEASE_NAME:primary_immunodeficiency_syndrome_due_to_p14_deficiency Primary immunodeficiency syndrome due to p14 deficiency Supplemental_disease_name DISEASE_NAME:primary_immunodeficiency_with_post_measles_mumps_rubella_vaccine_viral_infection Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Supplemental_disease_name DISEASE_NAME:primary_immunodeficiency_with_post_measles_mumps_rubella_vaccine_viral_infection_pseudo_torch_syndrome_3 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection;Pseudo-TORCH syndrome 3 Supplemental_disease_name DISEASE_NAME:primary_interstitial_lung_disease_specific_to_childhood_due_to_pulmonary_surfactant_protein_anomalies Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Supplemental_disease_name DISEASE_NAME:primary_interstitial_lung_disease_specific_to_childhood_due_to_pulmonary_surfactant_protein_anomalies_diffuse_interstitial_pulmonary_fibrosis Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies;Diffuse interstitial pulmonary fibrosis Supplemental_disease_name DISEASE_NAME:primary_intraosseous_venous_malformation Primary intraosseous venous malformation Supplemental_disease_name DISEASE_NAME:primary_low_grade_serous_adenocarcinoma_of_ovary Primary low grade serous adenocarcinoma of ovary Supplemental_disease_name DISEASE_NAME:primary_membranoproliferative_glomerulonephritis Primary membranoproliferative glomerulonephritis Supplemental_disease_name DISEASE_NAME:primary_microcephaly_intellectual_disability Primary microcephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:primary_microcephaly_lissencephaly_type_3_perisylvian_polymicrogyria_moderate_intellectual_disability Primary microcephaly;Lissencephaly type 3;Perisylvian polymicrogyria;Moderate intellectual disability Supplemental_disease_name DISEASE_NAME:primary_microcephaly_seizure_intellectual_disability Primary microcephaly;Seizure;Intellectual disability Supplemental_disease_name DISEASE_NAME:primary_microcephaly_severe_intellectual_disability_aplasia_hypoplasia_of_the_corpus_callosum Primary microcephaly;Severe intellectual disability;Aplasia/Hypoplasia of the corpus callosum Supplemental_disease_name DISEASE_NAME:primary_microcephaly_type_2 Primary microcephaly type 2 Supplemental_disease_name DISEASE_NAME:primary_mitochondrial_disorders Primary Mitochondrial Disorders Supplemental_disease_name DISEASE_NAME:primary_myelofibrosis_congenital_amegakaryocytic_thrombocytopenia_1_thrombocythemia_2 Primary myelofibrosis;Congenital amegakaryocytic thrombocytopenia 1;Thrombocythemia 2 Supplemental_disease_name DISEASE_NAME:primary_myelofibrosis_thrombocythemia_1 Primary myelofibrosis;Thrombocythemia 1 Supplemental_disease_name DISEASE_NAME:primary_myelofibrosis_thrombocythemia_1_primary_familial_polycythemia_due_to_epo_receptor_mutation Primary myelofibrosis;Thrombocythemia 1;Primary familial polycythemia due to EPO receptor mutation Supplemental_disease_name DISEASE_NAME:primary_myelofibrosis_thrombocythemia_2_congenital_amegakaryocytic_thrombocytopenia Primary myelofibrosis;Thrombocythemia 2;Congenital amegakaryocytic thrombocytopenia Supplemental_disease_name DISEASE_NAME:primary_myelofibrosis_thrombocythemia_2_congenital_amegakaryocytic_thrombocytopenia_1 Primary myelofibrosis;Thrombocythemia 2;Congenital amegakaryocytic thrombocytopenia 1 Supplemental_disease_name DISEASE_NAME:primary_open_angle_glaucoma_amyotrophic_lateral_sclerosis_type_12 Primary open angle glaucoma;Amyotrophic lateral sclerosis type 12 Supplemental_disease_name DISEASE_NAME:primary_open_angle_glaucoma_amyotrophic_lateral_sclerosis_type_12_glaucoma_1_open_angle_e Primary open angle glaucoma;Amyotrophic lateral sclerosis type 12;Glaucoma 1, open angle, E Supplemental_disease_name DISEASE_NAME:primary_open_angle_glaucoma_encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_8_frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_4_herpes_simplex_encephalitis_susceptibility_to_1 Primary open angle glaucoma;Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8;Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Herpes simplex encephalitis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:primary_open_angle_glaucoma_glaucoma_1_open_angle_e_amyotrophic_lateral_sclerosis_type_12 Primary open angle glaucoma;Glaucoma 1, open angle, E;Amyotrophic lateral sclerosis type 12 Supplemental_disease_name DISEASE_NAME:primary_open_angle_glaucoma_glaucoma_normal_tension_susceptibility_to_amyotrophic_lateral_sclerosis_type_12 Primary open angle glaucoma;Glaucoma, normal tension, susceptibility to;Amyotrophic lateral sclerosis type 12 Supplemental_disease_name DISEASE_NAME:primary_ovarian_failure_8 PRIMARY OVARIAN FAILURE 8 Supplemental_disease_name DISEASE_NAME:primary_progressive_multiple_sclerosis_mitochondrial_dna_depletion_syndrome Primary progressive multiple sclerosis;Mitochondrial DNA depletion syndrome Supplemental_disease_name DISEASE_NAME:primary_progressive_non_fluent_aphasia_corticobasal_syndrome Primary progressive non fluent aphasia;Corticobasal syndrome Supplemental_disease_name DISEASE_NAME:primary_pulmonary_hypoplasia Primary pulmonary hypoplasia Supplemental_disease_name DISEASE_NAME:primitive_neuroectodermal_tumor Primitive neuroectodermal tumor Supplemental_disease_name DISEASE_NAME:primordial_dwarfism_immunodeficiency_lipodystrophy_syndrome Primordial dwarfism-immunodeficiency-lipodystrophy syndrome Supplemental_disease_name DISEASE_NAME:primpol_related_disorder PRIMPOL-related disorder Supplemental_disease_name DISEASE_NAME:primray_hypomagnesemia_with_secondary_hypocalcemia primray hypomagnesemia with secondary hypocalcemia Supplemental_disease_name DISEASE_NAME:primrose_syndrome Primrose syndrome Supplemental_disease_name DISEASE_NAME:prkaa2_related_disorder PRKAA2-related disorder Supplemental_disease_name DISEASE_NAME:prkaca_related_disorder PRKACA-related disorder Supplemental_disease_name DISEASE_NAME:prkacb_related_disorder PRKACB-related disorder Supplemental_disease_name DISEASE_NAME:prkacg_related_disorder PRKACG-related disorder Supplemental_disease_name DISEASE_NAME:prkag2_cardiac_syndrome PRKAG2 cardiac syndrome Supplemental_disease_name DISEASE_NAME:prkag2_related_cardiomyopathy PRKAG2-related cardiomyopathy Supplemental_disease_name DISEASE_NAME:prkag2_related_disorder PRKAG2-related disorder Supplemental_disease_name DISEASE_NAME:prkag2_syndrome PRKAG2 syndrome Supplemental_disease_name DISEASE_NAME:prkag3_related_disorder PRKAG3-related disorder Supplemental_disease_name DISEASE_NAME:prkar1a_related_disorder PRKAR1A-related disorder Supplemental_disease_name DISEASE_NAME:prkar1b_related_disorder PRKAR1B-related disorder Supplemental_disease_name DISEASE_NAME:prkar1b_related_neurodevelopmental_disorder PRKAR1B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:prkca_related_disorder PRKCA-related disorder Supplemental_disease_name DISEASE_NAME:prkcb_related_disorder PRKCB-related disorder Supplemental_disease_name DISEASE_NAME:prkcd_related_disorder PRKCD-related disorder Supplemental_disease_name DISEASE_NAME:prkce_associated_disorder PRKCE-associated disorder Supplemental_disease_name DISEASE_NAME:prkcg_related_disorder PRKCG-related disorder Supplemental_disease_name DISEASE_NAME:prkch_related_disorder PRKCH-related disorder Supplemental_disease_name DISEASE_NAME:prkci_related_disorder PRKCI-related disorder Supplemental_disease_name DISEASE_NAME:prkcsh_related_disorder PRKCSH-related disorder Supplemental_disease_name DISEASE_NAME:prkd1_related_disorder PRKD1-related disorder Supplemental_disease_name DISEASE_NAME:prkd2_related_disorder PRKD2-related disorder Supplemental_disease_name DISEASE_NAME:prkdc_related_disorder PRKDC-related disorder Supplemental_disease_name DISEASE_NAME:prkg1_related_disorder PRKG1-related disorder Supplemental_disease_name DISEASE_NAME:prkg2_related_disorder PRKG2-related disorder Supplemental_disease_name DISEASE_NAME:prkn_related_disorder PRKN-related disorder Supplemental_disease_name DISEASE_NAME:prkra_related_disorder PRKRA-related disorder Supplemental_disease_name DISEASE_NAME:prlr_related_disorder PRLR-related disorder Supplemental_disease_name DISEASE_NAME:prmt6_related_disorder PRMT6-related disorder Supplemental_disease_name DISEASE_NAME:prmt7_related_disorder PRMT7-related disorder Supplemental_disease_name DISEASE_NAME:prmt9_associated_neurodevelopmental_disorder PRMT9-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:prmt9_related_disorder PRMT9-related disorder Supplemental_disease_name DISEASE_NAME:prnp_associated_condition PRNP-associated condition Supplemental_disease_name DISEASE_NAME:prnp_related_disorder PRNP-related disorder Supplemental_disease_name DISEASE_NAME:proalbumin_jaffna PROALBUMIN JAFFNA Supplemental_disease_name DISEASE_NAME:proalbumin_lille PROALBUMIN LILLE Supplemental_disease_name DISEASE_NAME:proalbumin_malmo PROALBUMIN MALMO Supplemental_disease_name DISEASE_NAME:proc_related_disorder PROC-related disorder Supplemental_disease_name DISEASE_NAME:prodh2_related_disorder PRODH2-related disorder Supplemental_disease_name DISEASE_NAME:profound_global_developmental_delay Profound global developmental delay Supplemental_disease_name DISEASE_NAME:profound_global_developmental_delay_epileptic_encephalopathy Profound global developmental delay;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:profound_global_developmental_delay_generalized_hypotonia Profound global developmental delay;Generalized hypotonia Supplemental_disease_name DISEASE_NAME:profound_global_developmental_delay_peripheral_hypomyelination_optic_atrophy_cns_hypomyelination_developmental_regression Profound global developmental delay;Peripheral hypomyelination;Optic atrophy;CNS hypomyelination;Developmental regression Supplemental_disease_name DISEASE_NAME:profound_hearing_impairment Profound hearing impairment Supplemental_disease_name DISEASE_NAME:profound_intellectual_disability Profound intellectual disability Supplemental_disease_name DISEASE_NAME:profound_intellectual_disability_global_developmental_delay_seizure_hyperactivity Profound intellectual disability;Global developmental delay;Seizure;Hyperactivity Supplemental_disease_name DISEASE_NAME:progeroid_and_marfanoid_aspect_lipodystrophy_syndrome Progeroid and marfanoid aspect-lipodystrophy syndrome Supplemental_disease_name DISEASE_NAME:progeroid_and_marfanoid_aspect_lipodystrophy_syndrome_marfan_syndrome Progeroid and marfanoid aspect-lipodystrophy syndrome;Marfan syndrome Supplemental_disease_name DISEASE_NAME:progeroid_mandibuloacral_dysplasia Progeroid mandibuloacral dysplasia Supplemental_disease_name DISEASE_NAME:programmed_death_ligand_1_pd_l1_blocking_antibody_response Programmed death ligand-1 (PD-L1) blocking antibody response Supplemental_disease_name DISEASE_NAME:progressive_bifocal_chorioretinal_atrophy Progressive bifocal chorioretinal atrophy Supplemental_disease_name DISEASE_NAME:progressive_bulbar_palsy_of_childhood Progressive bulbar palsy of childhood Supplemental_disease_name DISEASE_NAME:progressive_bulbar_palsy_of_childhood_brown_vialetto_van_laere_syndrome_1 Progressive bulbar palsy of childhood;Brown-Vialetto-van Laere syndrome 1 Supplemental_disease_name DISEASE_NAME:progressive_cerebellar_ataxia Progressive cerebellar ataxia Supplemental_disease_name DISEASE_NAME:progressive_childhood_encephalopathy Progressive childhood encephalopathy Supplemental_disease_name DISEASE_NAME:progressive_cone_degeneration Progressive cone degeneration Supplemental_disease_name DISEASE_NAME:progressive_cone_dystrophy_without_rod_involvement Progressive cone dystrophy (without rod involvement) Supplemental_disease_name DISEASE_NAME:progressive_demyelinating_neuropathy_with_bilateral_striatal_necrosis Progressive demyelinating neuropathy with bilateral striatal necrosis Supplemental_disease_name DISEASE_NAME:progressive_demyelinating_neuropathy_with_bilateral_striatal_necrosis_amish_lethal_microcephaly Progressive demyelinating neuropathy with bilateral striatal necrosis;Amish lethal microcephaly Supplemental_disease_name DISEASE_NAME:progressive_distal_muscle_weakness_pelvic_girdle_muscle_weakness_delayed_gross_motor_development_proximal_muscle_weakness_scoliosis Progressive distal muscle weakness;Pelvic girdle muscle weakness;Delayed gross motor development;Proximal muscle weakness;Scoliosis Supplemental_disease_name DISEASE_NAME:progressive_distal_muscle_weakness_progressive_proximal_muscle_weakness Progressive distal muscle weakness;Progressive proximal muscle weakness Supplemental_disease_name DISEASE_NAME:progressive_encephalopathy_seizure_chorea Progressive encephalopathy;Seizure;Chorea Supplemental_disease_name DISEASE_NAME:progressive_encephalopathy_with_leukodystrophy_due_to_decr_deficiency Progressive encephalopathy with leukodystrophy due to DECR deficiency Supplemental_disease_name DISEASE_NAME:progressive_essential_tremor_speech_impairment_facial_dysmorphism_intellectual_disability_abnormal_behavior_syndrome Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_proximal_myopathy_and_sudden_death Progressive external ophthalmoplegia, proximal myopathy, and sudden death Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_sclerosing_poliodystrophy_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_sclerosing_poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive sclerosing poliodystrophy Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_mitochondrial_dna_depletion_syndrome_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_mitochondrial_dna_depletion_syndrome_4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Mitochondrial DNA depletion syndrome 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_sclerosing_poliodystrophy_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_mitochondrial_dna_depletion_syndrome_4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_sclerosing_poliodystrophy_spinocerebellar_ataxia_with_epilepsy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy;Spinocerebellar ataxia with epilepsy Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_2_mitochondrial_dna_depletion_syndrome_12a_cardiomyopathic_type_autosomal_dominant Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2;Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_2_mitochondrial_dna_depletion_syndrome_12a_cardiomyopathic_type_autosomal_dominant_mitochondrial_dna_depletion_syndrome_12b_cardiomyopathic_type_autosomal_recessive Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2;Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_2_mitochondrial_dna_depletion_syndrome_12b_cardiomyopathic_type_autosomal_recessive_mitochondrial_dna_depletion_syndrome_12a_cardiomyopathic_type_autosomal_dominant Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive;Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3_infantile_onset_spinocerebellar_ataxia_perrault_syndrome_5 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3;Infantile onset spinocerebellar ataxia;Perrault syndrome 5 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3_infantile_onset_spinocerebellar_ataxia_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_perrault_syndrome_5 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3;Infantile onset spinocerebellar ataxia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Perrault syndrome 5 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_3_perrault_syndrome_5_infantile_onset_spinocerebellar_ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3;Perrault syndrome 5;Infantile onset spinocerebellar ataxia Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_4_mitochondrial_dna_depletion_syndrome_16_hepatic_type_mitochondrial_dna_depletion_syndrome_16b_neuroophthalmic_type Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4;Mitochondrial DNA depletion syndrome 16 (hepatic type);Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_4_mitochondrial_dna_depletion_syndrome_16b_neuroophthalmic_type_mitochondrial_dna_depletion_syndrome_16_hepatic_type Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4;Mitochondrial dna depletion syndrome 16B (neuroophthalmic type);Mitochondrial DNA depletion syndrome 16 (hepatic type) Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_5 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_5_mitochondrial_dna_depletion_syndrome_8a_rod_cone_dystrophy_sensorineural_deafness_and_fanconi_type_renal_dysfunction Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5;Mitochondrial DNA depletion syndrome 8a;Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_5_rod_cone_dystrophy_sensorineural_deafness_and_fanconi_type_renal_dysfunction_mitochondrial_dna_depletion_syndrome_8a Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5;Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction;Mitochondrial DNA depletion syndrome 8a Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_sclerosing_poliodystrophy_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_mitochondrial_dna_depletion_syndrome_4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_mitochondrial_dna_depletion_syndrome_4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_3_mitochondrial_dna_depletion_syndrome_myopathic_form Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3;Mitochondrial DNA depletion syndrome, myopathic form Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_4_mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type_portal_hypertension_noncirrhotic_1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Mitochondrial DNA depletion syndrome 3 (hepatocerebral type);Portal hypertension, noncirrhotic, 1 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_4_portal_hypertension_noncirrhotic_1_mitochondrial_dna_depletion_syndrome_3_hepatocerebral_type Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Portal hypertension, noncirrhotic, 1;Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_5 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_5_microcephaly_growth_restriction_and_increased_sister_chromatid_exchange_2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5;Microcephaly, growth restriction, and increased sister chromatid exchange 2 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_6 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_digenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic Supplemental_disease_name DISEASE_NAME:progressive_external_ophthalmoplegia_with_myoclonus Progressive external ophthalmoplegia with myoclonus Supplemental_disease_name DISEASE_NAME:progressive_familial_heart_block_type_1a Progressive familial heart block, type 1A Supplemental_disease_name DISEASE_NAME:progressive_familial_heart_block_type_ib_erythrokeratodermia_variabilis_et_progressiva_6 Progressive familial heart block type IB;Erythrokeratodermia variabilis et progressiva 6 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_1 Progressive familial intrahepatic cholestasis type 1 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_1_benign_recurrent_intrahepatic_cholestasis_type_1 Progressive familial intrahepatic cholestasis type 1;Benign recurrent intrahepatic cholestasis type 1 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_1_benign_recurrent_intrahepatic_cholestasis_type_1_cholestasis_intrahepatic_of_pregnancy_1 Progressive familial intrahepatic cholestasis type 1;Benign recurrent intrahepatic cholestasis type 1;Cholestasis, intrahepatic, of pregnancy, 1 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_1_cholestasis_intrahepatic_of_pregnancy_1 Progressive familial intrahepatic cholestasis type 1;Cholestasis, intrahepatic, of pregnancy, 1 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_1_cholestasis_intrahepatic_of_pregnancy_1_benign_recurrent_intrahepatic_cholestasis_type_1 Progressive familial intrahepatic cholestasis type 1;Cholestasis, intrahepatic, of pregnancy, 1;Benign recurrent intrahepatic cholestasis type 1 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_1_intrahepatic_cholestasis_with_episodic_jaundice Progressive familial intrahepatic cholestasis type 1;Intrahepatic cholestasis with episodic jaundice Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_2 Progressive familial intrahepatic cholestasis type 2 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_2_benign_recurrent_intrahepatic_cholestasis_type_2 Progressive familial intrahepatic cholestasis type 2;Benign recurrent intrahepatic cholestasis type 2 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_3 Progressive familial intrahepatic cholestasis type 3 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_3_cholestasis_intrahepatic_of_pregnancy_3 Progressive familial intrahepatic cholestasis type 3;Cholestasis, intrahepatic, of pregnancy, 3 Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_3_cholestasis_intrahepatic_of_pregnancy_3_low_phospholipid_associated_cholelithiasis Progressive familial intrahepatic cholestasis type 3;Cholestasis, intrahepatic, of pregnancy, 3;Low phospholipid associated cholelithiasis Supplemental_disease_name DISEASE_NAME:progressive_familial_intrahepatic_cholestasis_type_3_low_phospholipid_associated_cholelithiasis_cholestasis_intrahepatic_of_pregnancy_3 Progressive familial intrahepatic cholestasis type 3;Low phospholipid associated cholelithiasis;Cholestasis, intrahepatic, of pregnancy, 3 Supplemental_disease_name DISEASE_NAME:progressive_macrocephaly_intellectual_disability Progressive macrocephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:progressive_microcephaly Progressive microcephaly Supplemental_disease_name DISEASE_NAME:progressive_microcephaly_seizures_cortical_blindness_developmental_delay_syndrome Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:progressive_microcephaly_seizures_cortical_blindness_developmental_delay_syndrome_autosomal_dominant_nonsyndromic_hearing_loss_1 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1 Supplemental_disease_name DISEASE_NAME:progressive_muscle_weakness Progressive muscle weakness Supplemental_disease_name DISEASE_NAME:progressive_muscle_weakness_seizure Progressive muscle weakness;Seizure Supplemental_disease_name DISEASE_NAME:progressive_muscular_dystrophy Progressive muscular dystrophy Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_3 Progressive myoclonic epilepsy type 3 Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_5 Progressive myoclonic epilepsy type 5 Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_6 Progressive myoclonic epilepsy type 6 Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_6_muscular_dystrophy_congenital_with_or_without_seizures Progressive myoclonic epilepsy type 6;Muscular dystrophy, congenital, with or without seizures Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_7 Progressive myoclonic epilepsy type 7 Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_8 Progressive myoclonic epilepsy type 8 Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_9 Progressive myoclonic epilepsy type 9 Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_9_lipodystrophy_partial_acquired_susceptibility_to Progressive myoclonic epilepsy type 9;Lipodystrophy, partial, acquired, susceptibility to Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_9_lipodystrophy_partial_acquired_susceptibility_to_microcephaly_27_primary_autosomal_dominant Progressive myoclonic epilepsy type 9;Lipodystrophy, partial, acquired, susceptibility to;Microcephaly 27, primary, autosomal dominant Supplemental_disease_name DISEASE_NAME:progressive_myoclonic_epilepsy_type_9_microcephaly_27_primary_autosomal_dominant_lipodystrophy_partial_acquired_susceptibility_to Progressive myoclonic epilepsy type 9;Microcephaly 27, primary, autosomal dominant;Lipodystrophy, partial, acquired, susceptibility to Supplemental_disease_name DISEASE_NAME:progressive_neurodegenerative_disease Progressive neurodegenerative disease Supplemental_disease_name DISEASE_NAME:progressive_neurologic_deterioration_generalized_myoclonic_seizure_severe_global_developmental_delay_difficulty_standing_inability_to_walk Progressive neurologic deterioration;Generalized myoclonic seizure;Severe global developmental delay;Difficulty standing;Inability to walk Supplemental_disease_name DISEASE_NAME:progressive_neurologic_deterioration_inability_to_walk_generalized_myoclonic_seizure_severe_global_developmental_delay_difficulty_standing Progressive neurologic deterioration;Inability to walk;Generalized myoclonic seizure;Severe global developmental delay;Difficulty standing Supplemental_disease_name DISEASE_NAME:progressive_osseous_heteroplasia_pseudohypoparathyroidism_type_1c_pseudopseudohypoparathyroidism_pseudohypoparathyroidism_type_i_a_pseudohypoparathyroidism_type_1b Progressive osseous heteroplasia;Pseudohypoparathyroidism type 1C;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1B Supplemental_disease_name DISEASE_NAME:progressive_osseous_heteroplasia_pseudohypoparathyroidism_type_i_a_pseudohypoparathyroidism_type_1b_pseudopseudohypoparathyroidism_pseudohypoparathyroidism_type_1c Progressive osseous heteroplasia;Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1B;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism type 1C Supplemental_disease_name DISEASE_NAME:progressive_osseous_heteroplasia_pseudopseudohypoparathyroidism_pseudohypoparathyroidism_type_i_a Progressive osseous heteroplasia;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism type I A Supplemental_disease_name DISEASE_NAME:progressive_peripheral_neuropathy_progressive_gait_ataxia Progressive peripheral neuropathy;Progressive gait ataxia Supplemental_disease_name DISEASE_NAME:progressive_proximal_muscle_weakness_limb_pain_muscular_dystrophy Progressive proximal muscle weakness;Limb pain;Muscular dystrophy Supplemental_disease_name DISEASE_NAME:progressive_pseudorheumatoid_dysplasia Progressive pseudorheumatoid dysplasia Supplemental_disease_name DISEASE_NAME:progressive_psychomotor_deterioration Progressive psychomotor deterioration Supplemental_disease_name DISEASE_NAME:progressive_pulmonary_failure Progressive pulmonary failure Supplemental_disease_name DISEASE_NAME:progressive_retinal_dystrophy_due_to_retinol_transport_defect Progressive retinal dystrophy due to retinol transport defect Supplemental_disease_name DISEASE_NAME:progressive_retinal_dystrophy_due_to_retinol_transport_defect_microphthalmia_isolated_with_coloboma_10 Progressive retinal dystrophy due to retinol transport defect;Microphthalmia, isolated, with coloboma 10 Supplemental_disease_name DISEASE_NAME:progressive_scapulohumeroperoneal_distal_myopathy Progressive scapulohumeroperoneal distal myopathy Supplemental_disease_name DISEASE_NAME:progressive_scapulohumeroperoneal_distal_myopathy_actin_accumulation_myopathy_congenital_myopathy_with_fiber_type_disproportion Progressive scapulohumeroperoneal distal myopathy;Actin accumulation myopathy;Congenital myopathy with fiber type disproportion Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_mitochondrial_dna_depletion_syndrome_4b_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1 Progressive sclerosing poliodystrophy;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_mitochondrial_dna_depletion_syndrome_4b_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Progressive sclerosing poliodystrophy;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_mitochondrial_dna_depletion_syndrome_4b Progressive sclerosing poliodystrophy;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_mitochondrial_dna_depletion_syndrome_4b_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis Progressive sclerosing poliodystrophy;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_mitochondrial_dna_depletion_syndrome_4b Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1 Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:progressive_sclerosing_poliodystrophy_sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_spinocerebellar_ataxia_with_epilepsy Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Spinocerebellar ataxia with epilepsy Supplemental_disease_name DISEASE_NAME:progressive_sensorineural_hearing_impairment Progressive sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:progressive_sensorineural_hearing_loss_hypertrophic_cardiomyopathy_syndrome Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Supplemental_disease_name DISEASE_NAME:progressive_spastic_paraparesis Progressive spastic paraparesis Supplemental_disease_name DISEASE_NAME:progressive_spastic_paraparesis_intellectual_disability Progressive spastic paraparesis;Intellectual disability Supplemental_disease_name DISEASE_NAME:progressive_spasticity_spastic_hemiparesis Progressive spasticity;Spastic hemiparesis Supplemental_disease_name DISEASE_NAME:progressive_spondyloepimetaphyseal_dysplasia_short_stature_short_fourth_metatarsals_intellectual_disability_syndrome Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:progressive_superanuclear_palsy Progressive superanuclear palsy Supplemental_disease_name DISEASE_NAME:progressive_supranuclear_palsy_parkinsonism_syndrome Progressive supranuclear palsy-parkinsonism syndrome Supplemental_disease_name DISEASE_NAME:progressive_ventriculomegaly Progressive ventriculomegaly Supplemental_disease_name DISEASE_NAME:proguanil_poor_metabolism_of PROGUANIL, POOR METABOLISM OF Supplemental_disease_name DISEASE_NAME:prok2_related_disorder PROK2-related disorder Supplemental_disease_name DISEASE_NAME:prokr2_related_disorder PROKR2-related disorder Supplemental_disease_name DISEASE_NAME:prolactin_producing_pituitary_gland_adenoma_high_myopia Prolactin-producing pituitary gland adenoma;High myopia Supplemental_disease_name DISEASE_NAME:proline_dehydrogenase_deficiency Proline dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:proline_dehydrogenase_deficiency_schizophrenia_4 Proline dehydrogenase deficiency;Schizophrenia 4 Supplemental_disease_name DISEASE_NAME:prolonged_bleeding_time_abnormal_bleeding Prolonged bleeding time;Abnormal bleeding Supplemental_disease_name DISEASE_NAME:prolonged_bleeding_time_brachydactyly_and_intellectual_disability Prolonged bleeding time, brachydactyly, and intellectual disability Supplemental_disease_name DISEASE_NAME:prolonged_prothrombin_time Prolonged prothrombin time Supplemental_disease_name DISEASE_NAME:prolonged_qt_interval Prolonged QT interval Supplemental_disease_name DISEASE_NAME:prolonged_qt_interval_obesity Prolonged QT interval;Obesity Supplemental_disease_name DISEASE_NAME:prom1_related_disorder PROM1-related disorder Supplemental_disease_name DISEASE_NAME:prop1_related_disorder PROP1-related disorder Supplemental_disease_name DISEASE_NAME:properdin_deficiency_type_ii Properdin deficiency, type II Supplemental_disease_name DISEASE_NAME:properdin_deficiency_type_iii Properdin deficiency, type III Supplemental_disease_name DISEASE_NAME:properdin_deficiency_x_linked Properdin deficiency, X-linked Supplemental_disease_name DISEASE_NAME:propofol_response Propofol response Supplemental_disease_name DISEASE_NAME:proportionate_short_stature Proportionate short stature Supplemental_disease_name DISEASE_NAME:proportionate_short_stature_brachydactyly_alopecia_areata_pear_shaped_nose Proportionate short stature;Brachydactyly;Alopecia areata;Pear-shaped nose Supplemental_disease_name DISEASE_NAME:prorp_related_disorder PRORP-related disorder Supplemental_disease_name DISEASE_NAME:pros1_related_disorder PROS1-related disorder Supplemental_disease_name DISEASE_NAME:proser1_related_disorder PROSER1-related disorder Supplemental_disease_name DISEASE_NAME:proser1_related_neurodevelopmental_disorders PROSER1-related Neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:prostate_cancer_androgen_resistance_syndrome_partial_androgen_insensitivity_syndrome_hypospadias_1_x_linked_kennedy_disease Prostate cancer;Androgen resistance syndrome;Partial androgen insensitivity syndrome;Hypospadias 1, X-linked;Kennedy disease Supplemental_disease_name DISEASE_NAME:prostate_cancer_brain_cancer_susceptibility Prostate cancer/brain cancer susceptibility Supplemental_disease_name DISEASE_NAME:prostate_cancer_brain_cancer_susceptibility_bleeding_disorder_platelet_type_22 Prostate cancer/brain cancer susceptibility;Bleeding disorder, platelet-type, 22 Supplemental_disease_name DISEASE_NAME:prostate_cancer_carcinoma_adenocarcinoma Prostate cancer/carcinoma/adenocarcinoma Supplemental_disease_name DISEASE_NAME:prostate_cancer_chek2_related_cancer_predisposition_bone_osteosarcoma_familial_cancer_of_breast_colorectal_cancer Prostate cancer;CHEK2-related cancer predisposition;Bone osteosarcoma;Familial cancer of breast;Colorectal cancer Supplemental_disease_name DISEASE_NAME:prostate_cancer_chek2_related_cancer_predisposition_familial_cancer_of_breast_bone_osteosarcoma Prostate cancer;CHEK2-related cancer predisposition;Familial cancer of breast;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:prostate_cancer_colorectal_cancer_chek2_related_cancer_predisposition_familial_cancer_of_breast_bone_osteosarcoma Prostate cancer;Colorectal cancer;CHEK2-related cancer predisposition;Familial cancer of breast;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:prostate_cancer_colorectal_cancer_familial_cancer_of_breast Prostate cancer;Colorectal cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:prostate_cancer_familial_cancer_of_breast_chek2_related_cancer_predisposition_bone_osteosarcoma Prostate cancer;Familial cancer of breast;CHEK2-related cancer predisposition;Bone osteosarcoma Supplemental_disease_name DISEASE_NAME:prostate_cancer_familial_cancer_of_breast_chek2_related_cancer_predisposition_bone_osteosarcoma_colorectal_cancer Prostate cancer;Familial cancer of breast;CHEK2-related cancer predisposition;Bone osteosarcoma;Colorectal cancer Supplemental_disease_name DISEASE_NAME:prostate_cancer_glioma_susceptibility_2_macrocephaly_autism_syndrome_familial_meningioma_cowden_syndrome_1 Prostate cancer;Glioma susceptibility 2;Macrocephaly-autism syndrome;Familial meningioma;Cowden syndrome 1 Supplemental_disease_name DISEASE_NAME:prostate_cancer_hereditary_1 Prostate cancer, hereditary, 1 Supplemental_disease_name DISEASE_NAME:prostate_cancer_hereditary_12 Prostate cancer, hereditary, 12 Supplemental_disease_name DISEASE_NAME:prostate_cancer_hereditary_13 Prostate cancer, hereditary, 13 Supplemental_disease_name DISEASE_NAME:prostate_cancer_hereditary_2 Prostate cancer, hereditary, 2 Supplemental_disease_name DISEASE_NAME:prostate_cancer_hereditary_2_combined_oxidative_phosphorylation_defect_type_17 Prostate cancer, hereditary, 2;Combined oxidative phosphorylation defect type 17 Supplemental_disease_name DISEASE_NAME:prostate_cancer_hereditary_2_susceptibility_to Prostate cancer, hereditary, 2, susceptibility to Supplemental_disease_name DISEASE_NAME:prostate_cancer_hereditary_9 Prostate cancer, hereditary, 9 Supplemental_disease_name DISEASE_NAME:prostate_cancer_hereditary_x_linked_3 Prostate cancer, hereditary, X-linked 3 Supplemental_disease_name DISEASE_NAME:prostate_cancer_prostate_neoplasm Prostate cancer;Prostate neoplasm Supplemental_disease_name DISEASE_NAME:prostate_cancer_somatic Prostate cancer, somatic Supplemental_disease_name DISEASE_NAME:prostate_cancer_susceptibility Prostate cancer susceptibility Supplemental_disease_name DISEASE_NAME:prostate_cancer_susceptibility_aicardi_goutieres_syndrome_5 Prostate cancer susceptibility;Aicardi-Goutieres syndrome 5 Supplemental_disease_name DISEASE_NAME:prostate_cancer_susceptibility_lymphoma_familial_cancer_of_breast Prostate cancer susceptibility;Lymphoma;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:prostate_tumor prostate tumor Supplemental_disease_name DISEASE_NAME:proteasome_associated_autoinflammatory_syndrome Proteasome-associated autoinflammatory syndrome Supplemental_disease_name DISEASE_NAME:proteasome_associated_autoinflammatory_syndrome_1_digenic PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC Supplemental_disease_name DISEASE_NAME:proteasome_associated_autoinflammatory_syndrome_2 Proteasome-associated autoinflammatory syndrome 2 Supplemental_disease_name DISEASE_NAME:proteasome_associated_autoinflammatory_syndrome_2_keratosis_linearis_ichthyosis_congenita_sclerosing_keratoderma_syndrome Proteasome-associated autoinflammatory syndrome 2;Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Supplemental_disease_name DISEASE_NAME:proteasome_associated_autoinflammatory_syndrome_4 Proteasome-associated autoinflammatory syndrome 4 Supplemental_disease_name DISEASE_NAME:proteasome_associated_autoinflammatory_syndrome_5 Proteasome-associated autoinflammatory syndrome 5 Supplemental_disease_name DISEASE_NAME:proteasome_associated_autoinflammatory_syndrome_6 Proteasome-associated autoinflammatory syndrome 6 Supplemental_disease_name DISEASE_NAME:proteasome_associated_autoinflammatory_syndrome_with_immunodeficiency_praas_id proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) Supplemental_disease_name DISEASE_NAME:protein_s_heerlen Protein S Heerlen Supplemental_disease_name DISEASE_NAME:protein_z_deficiency Protein Z deficiency Supplemental_disease_name DISEASE_NAME:proteinuria_chronic_benign Proteinuria, chronic benign Supplemental_disease_name DISEASE_NAME:proteinuria_chronic_benign_imerslund_grasbeck_syndrome_type_1 Proteinuria, chronic benign;Imerslund-Grasbeck syndrome type 1 Supplemental_disease_name DISEASE_NAME:proteinuria_hematuria Proteinuria;Hematuria Supplemental_disease_name DISEASE_NAME:proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Supplemental_disease_name DISEASE_NAME:proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_dent_disease_type_1 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1 Supplemental_disease_name DISEASE_NAME:proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_dent_disease_type_1_hypophosphatemic_rickets_x_linked_recessive_x_linked_recessive_nephrolithiasis_with_renal_failure Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure Supplemental_disease_name DISEASE_NAME:proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_dent_disease_type_1_x_linked_recessive_nephrolithiasis_with_renal_failure_hypophosphatemic_rickets_x_linked_recessive Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;X-linked recessive nephrolithiasis with renal failure;Hypophosphatemic rickets, X-linked recessive Supplemental_disease_name DISEASE_NAME:proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_hypophosphatemic_rickets_x_linked_recessive_dent_disease_type_1_x_linked_recessive_nephrolithiasis_with_renal_failure Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Hypophosphatemic rickets, X-linked recessive;Dent disease type 1;X-linked recessive nephrolithiasis with renal failure Supplemental_disease_name DISEASE_NAME:proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_x_linked_recessive_nephrolithiasis_with_renal_failure_dent_disease_type_1_hypophosphatemic_rickets_x_linked_recessive Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;X-linked recessive nephrolithiasis with renal failure;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive Supplemental_disease_name DISEASE_NAME:proteus_syndrome_familial_cancer_of_breast_cowden_syndrome_6_colorectal_cancer_ovarian_cancer Proteus syndrome;Familial cancer of breast;Cowden syndrome 6;Colorectal cancer;Ovarian cancer Supplemental_disease_name DISEASE_NAME:proteus_syndrome_ovarian_cancer_cowden_syndrome_6_colorectal_cancer_familial_cancer_of_breast Proteus syndrome;Ovarian cancer;Cowden syndrome 6;Colorectal cancer;Familial cancer of breast Supplemental_disease_name DISEASE_NAME:prothrombin_type_3 PROTHROMBIN TYPE 3 Supplemental_disease_name DISEASE_NAME:protoporphyria_erythropoietic_1 Protoporphyria, erythropoietic, 1 Supplemental_disease_name DISEASE_NAME:protoporphyria_erythropoietic_2 Protoporphyria, erythropoietic, 2 Supplemental_disease_name DISEASE_NAME:prox1_related_disorder PROX1-related disorder Supplemental_disease_name DISEASE_NAME:proximal_lower_limb_amyotrophy_muscle_spasm_emg_abnormality_falls_proximal_muscle_weakness Proximal lower limb amyotrophy;Muscle spasm;EMG abnormality;Falls;Proximal muscle weakness Supplemental_disease_name DISEASE_NAME:proximal_muscle_weakness Proximal muscle weakness Supplemental_disease_name DISEASE_NAME:proximal_muscle_weakness_highly_elevated_creatine_kinase Proximal muscle weakness;Highly elevated creatine kinase Supplemental_disease_name DISEASE_NAME:proximal_muscle_weakness_muscle_weakness Proximal muscle weakness;Muscle weakness Supplemental_disease_name DISEASE_NAME:proximal_spinal_muscular_atrophy Proximal spinal muscular atrophy Supplemental_disease_name DISEASE_NAME:proximal_symphalangism_1a Proximal symphalangism 1A Supplemental_disease_name DISEASE_NAME:proximal_upper_limb_muscle_weakness Proximal upper limb muscle weakness Supplemental_disease_name DISEASE_NAME:proz_related_disorder PROZ-related disorder Supplemental_disease_name DISEASE_NAME:prpf31_related_disorder PRPF31-related disorder Supplemental_disease_name DISEASE_NAME:prpf3_related_disorder PRPF3-related disorder Supplemental_disease_name DISEASE_NAME:prpf4_related_disorder PRPF4-related disorder Supplemental_disease_name DISEASE_NAME:prpf6_related_disorder PRPF6-related disorder Supplemental_disease_name DISEASE_NAME:prpf8_related_disorder PRPF8-related disorder Supplemental_disease_name DISEASE_NAME:prph2_associated_retinal_disease PRPH2-associated retinal disease Supplemental_disease_name DISEASE_NAME:prph2_related_disorder PRPH2-related disorder Supplemental_disease_name DISEASE_NAME:prph_related_disorder PRPH-related disorder Supplemental_disease_name DISEASE_NAME:prps1_deficiency_disorder PRPS1 deficiency disorder Supplemental_disease_name DISEASE_NAME:prps1_related_disorder PRPS1-related disorder Supplemental_disease_name DISEASE_NAME:prr12_associated_intellectual_disability PRR12-associated Intellectual Disability Supplemental_disease_name DISEASE_NAME:prr12_related_disorder PRR12-related disorder Supplemental_disease_name DISEASE_NAME:prr12_related_neuroocular_syndrome PRR12-related neuroocular syndrome Supplemental_disease_name DISEASE_NAME:prr4_related_disorder PRR4-related disorder Supplemental_disease_name DISEASE_NAME:prrc2a_related_disorder PRRC2A-related disorder Supplemental_disease_name DISEASE_NAME:prrg4_related_disorder PRRG4-related disorder Supplemental_disease_name DISEASE_NAME:prrt2_associated_conditions PRRT2-associated conditions Supplemental_disease_name DISEASE_NAME:prrt2_associated_paroxysmal_movement_disorder PRRT2-associated paroxysmal movement disorder Supplemental_disease_name DISEASE_NAME:prrt2_associated_paroxysmal_movement_disorders PRRT2-Associated Paroxysmal Movement Disorders Supplemental_disease_name DISEASE_NAME:prrt2_insufficiency PRRT2 insufficiency Supplemental_disease_name DISEASE_NAME:prrt2_related_disorder PRRT2-Related Disorder Supplemental_disease_name DISEASE_NAME:prrx1_related_disorder PRRX1-related disorder Supplemental_disease_name DISEASE_NAME:prss12_related_disorder PRSS12-related disorder Supplemental_disease_name DISEASE_NAME:prss1_related_disorder PRSS1-related disorder Supplemental_disease_name DISEASE_NAME:prss56_related_disorder PRSS56-related disorder Supplemental_disease_name DISEASE_NAME:prune1_related_disorder PRUNE1-related disorder Supplemental_disease_name DISEASE_NAME:pruritus_hereditary_localized Pruritus, hereditary localized Supplemental_disease_name DISEASE_NAME:prx_related_disorder PRX-related disorder Supplemental_disease_name DISEASE_NAME:psap_related_disorder PSAP-related disorder Supplemental_disease_name DISEASE_NAME:psat1_related_disorder PSAT1-related disorder Supplemental_disease_name DISEASE_NAME:psat_deficiency_neu_laxova_syndrome_2 PSAT deficiency;Neu-Laxova syndrome 2 Supplemental_disease_name DISEASE_NAME:psd3_related_disorder PSD3-related disorder Supplemental_disease_name DISEASE_NAME:psen1_related_disorder PSEN1-related disorder Supplemental_disease_name DISEASE_NAME:psen2_related_disorder PSEN2-related disorder Supplemental_disease_name DISEASE_NAME:psenen_related_disorder PSENEN-related disorder Supplemental_disease_name DISEASE_NAME:pseudo_fractures Pseudo-fractures Supplemental_disease_name DISEASE_NAME:pseudo_hurler_polydystrophy_mucolipidosis_type_ii Pseudo-Hurler polydystrophy;Mucolipidosis type II Supplemental_disease_name DISEASE_NAME:pseudo_pelger_huet_anomaly pseudo-Pelger-Huet anomaly Supplemental_disease_name DISEASE_NAME:pseudo_torch_syndrome_2 Pseudo-TORCH syndrome 2 Supplemental_disease_name DISEASE_NAME:pseudo_torch_syndrome_3 Pseudo-TORCH syndrome 3 Supplemental_disease_name DISEASE_NAME:pseudo_torch_syndrome_3_primary_immunodeficiency_with_post_measles_mumps_rubella_vaccine_viral_infection Pseudo-TORCH syndrome 3;Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Supplemental_disease_name DISEASE_NAME:pseudo_von_willebrand_disease_bernard_soulier_syndrome_bernard_soulier_syndrome_type_a2_autosomal_dominant_nonarteritic_anterior_ischemic_optic_neuropathy_susceptibility_to Pseudo von Willebrand disease;Bernard Soulier syndrome;Bernard-Soulier syndrome, type A2, autosomal dominant;Nonarteritic anterior ischemic optic neuropathy, susceptibility to Supplemental_disease_name DISEASE_NAME:pseudo_von_willebrand_disease_bernard_soulier_syndrome_type_a2_autosomal_dominant_bernard_soulier_syndrome_nonarteritic_anterior_ischemic_optic_neuropathy_susceptibility_to Pseudo von Willebrand disease;Bernard-Soulier syndrome, type A2, autosomal dominant;Bernard Soulier syndrome;Nonarteritic anterior ischemic optic neuropathy, susceptibility to Supplemental_disease_name DISEASE_NAME:pseudo_von_willebrand_disease_nonarteritic_anterior_ischemic_optic_neuropathy_susceptibility_to_bernard_soulier_syndrome_bernard_soulier_syndrome_type_a2_autosomal_dominant Pseudo von Willebrand disease;Nonarteritic anterior ischemic optic neuropathy, susceptibility to;Bernard Soulier syndrome;Bernard-Soulier syndrome, type A2, autosomal dominant Supplemental_disease_name DISEASE_NAME:pseudoachondroplasia_severe Pseudoachondroplasia, severe Supplemental_disease_name DISEASE_NAME:pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Supplemental_disease_name DISEASE_NAME:pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome_carpal_tunnel_syndrome_2_multiple_epiphyseal_dysplasia_type_1 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Carpal tunnel syndrome 2;Multiple epiphyseal dysplasia type 1 Supplemental_disease_name DISEASE_NAME:pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome_multiple_epiphyseal_dysplasia_type_1 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple epiphyseal dysplasia type 1 Supplemental_disease_name DISEASE_NAME:pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome_multiple_epiphyseal_dysplasia_type_1_carpal_tunnel_syndrome_2 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple epiphyseal dysplasia type 1;Carpal tunnel syndrome 2 Supplemental_disease_name DISEASE_NAME:pseudoarylsulfatase_a_deficiency PSEUDOARYLSULFATASE A DEFICIENCY Supplemental_disease_name DISEASE_NAME:pseudocholinesterase_deficiency Pseudocholinesterase deficiency Supplemental_disease_name DISEASE_NAME:pseudofolliculitis_barbae Pseudofolliculitis barbae Supplemental_disease_name DISEASE_NAME:pseudohyperaldosteronism_type_2 Pseudohyperaldosteronism type 2 Supplemental_disease_name DISEASE_NAME:pseudohyperaldosteronism_type_2_autosomal_dominant_pseudohypoaldosteronism_type_1 Pseudohyperaldosteronism type 2;Autosomal dominant pseudohypoaldosteronism type 1 Supplemental_disease_name DISEASE_NAME:pseudohyperkalemia Pseudohyperkalemia Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_intellectual_disability Pseudohypoaldosteronism;Intellectual disability Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_2a Pseudohypoaldosteronism type 2A Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_2b Pseudohypoaldosteronism type 2B Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_2c Pseudohypoaldosteronism type 2C Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_2c_neuropathy_hereditary_sensory_and_autonomic_type_2a Pseudohypoaldosteronism type 2C;Neuropathy, hereditary sensory and autonomic, type 2A Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_2d Pseudohypoaldosteronism type 2D Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_2e Pseudohypoaldosteronism type 2E Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_2e_neurodevelopmental_disorder_with_or_without_autism_or_seizures Pseudohypoaldosteronism type 2E;Neurodevelopmental disorder with or without autism or seizures Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib1_autosomal_recessive Pseudohypoaldosteronism, type IB1, autosomal recessive Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib1_autosomal_recessive_bronchiectasis_with_or_without_elevated_sweat_chloride_1_liddle_syndrome_1 Pseudohypoaldosteronism, type IB1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome 1 Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib1_autosomal_recessive_bronchiectasis_with_or_without_elevated_sweat_chloride_2_liddle_syndrome_3 Pseudohypoaldosteronism, type IB1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 2;Liddle syndrome 3 Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib1_autosomal_recessive_bronchiectasis_with_or_without_elevated_sweat_chloride_3_liddle_syndrome_2 Pseudohypoaldosteronism, type IB1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 3;Liddle syndrome 2 Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib1_autosomal_recessive_liddle_syndrome_1_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Pseudohypoaldosteronism, type IB1, autosomal recessive;Liddle syndrome 1;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib1_autosomal_recessive_liddle_syndrome_2_bronchiectasis_with_or_without_elevated_sweat_chloride_3 Pseudohypoaldosteronism, type IB1, autosomal recessive;Liddle syndrome 2;Bronchiectasis with or without elevated sweat chloride 3 Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib1_autosomal_recessive_liddle_syndrome_3_bronchiectasis_with_or_without_elevated_sweat_chloride_2 Pseudohypoaldosteronism, type IB1, autosomal recessive;Liddle syndrome 3;Bronchiectasis with or without elevated sweat chloride 2 Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib2_autosomal_recessive Pseudohypoaldosteronism, type IB2, autosomal recessive Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib2_autosomal_recessive_bronchiectasis_with_or_without_elevated_sweat_chloride_1_liddle_syndrome_1 Pseudohypoaldosteronism, type IB2, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome 1 Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib2_autosomal_recessive_liddle_syndrome_1_bronchiectasis_with_or_without_elevated_sweat_chloride_1 Pseudohypoaldosteronism, type IB2, autosomal recessive;Liddle syndrome 1;Bronchiectasis with or without elevated sweat chloride 1 Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib3_autosomal_recessive Pseudohypoaldosteronism, type IB3, autosomal recessive Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib3_autosomal_recessive_bronchiectasis_with_or_without_elevated_sweat_chloride_3_liddle_syndrome_2 Pseudohypoaldosteronism, type IB3, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 3;Liddle syndrome 2 Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib3_autosomal_recessive_liddle_syndrome_2_bronchiectasis_with_or_without_elevated_sweat_chloride_3 Pseudohypoaldosteronism, type IB3, autosomal recessive;Liddle syndrome 2;Bronchiectasis with or without elevated sweat chloride 3 Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_pseudohypoparathyroidism_type_1c Pseudohypoparathyroidism;Pseudohypoparathyroidism type 1C Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_pseudopseudohypoparathyroidism Pseudohypoparathyroidism;Pseudopseudohypoparathyroidism Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1b_pseudohypoparathyroidism_type_1c_pseudohypoparathyroidism_type_i_a_progressive_osseous_heteroplasia Pseudohypoparathyroidism type 1B;Pseudohypoparathyroidism type 1C;Pseudohypoparathyroidism type I A;Progressive osseous heteroplasia Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1b_pseudohypoparathyroidism_type_i_a Pseudohypoparathyroidism type 1B;Pseudohypoparathyroidism type I A Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1c_progressive_osseous_heteroplasia_pseudohypoparathyroidism_type_1b_pseudohypoparathyroidism_type_i_a Pseudohypoparathyroidism type 1C;Progressive osseous heteroplasia;Pseudohypoparathyroidism type 1B;Pseudohypoparathyroidism type I A Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1c_progressive_osseous_heteroplasia_pseudopseudohypoparathyroidism_pseudohypoparathyroidism_type_1b_pseudohypoparathyroidism_type_i_a Pseudohypoparathyroidism type 1C;Progressive osseous heteroplasia;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism type 1B;Pseudohypoparathyroidism type I A Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1c_progressive_osseous_heteroplasia_pseudopseudohypoparathyroidism_pseudohypoparathyroidism_type_i_a_pseudohypoparathyroidism_type_1b Pseudohypoparathyroidism type 1C;Progressive osseous heteroplasia;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1B Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1c_pseudohypoparathyroidism_type_i_a Pseudohypoparathyroidism type 1C;Pseudohypoparathyroidism type I A Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1c_pseudohypoparathyroidism_type_i_a_pseudohypoparathyroidism_type_1b Pseudohypoparathyroidism type 1C;Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1B Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1c_pseudohypoparathyroidism_type_i_a_pseudohypoparathyroidism_type_1b_pseudopseudohypoparathyroidism Pseudohypoparathyroidism type 1C;Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1B;Pseudopseudohypoparathyroidism Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1c_pseudopseudohypoparathyroidism_pseudohypoparathyroidism_type_1b_pseudohypoparathyroidism_type_i_a Pseudohypoparathyroidism type 1C;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism type 1B;Pseudohypoparathyroidism type I A Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_1c_pseudopseudohypoparathyroidism_pseudohypoparathyroidism_type_i_a_pseudohypoparathyroidism_type_1b Pseudohypoparathyroidism type 1C;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1B Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_i_a Pseudohypoparathyroidism type I A Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_i_a_progressive_osseous_heteroplasia Pseudohypoparathyroidism type I A;Progressive osseous heteroplasia Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_i_a_pseudohypoparathyroidism_type_1c_pseudohypoparathyroidism_type_1b Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1C;Pseudohypoparathyroidism type 1B Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_i_a_pseudohypoparathyroidism_type_1c_pseudohypoparathyroidism_type_1b_pseudopseudohypoparathyroidism_progressive_osseous_heteroplasia Pseudohypoparathyroidism type I A;Pseudohypoparathyroidism type 1C;Pseudohypoparathyroidism type 1B;Pseudopseudohypoparathyroidism;Progressive osseous heteroplasia Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_ia_with_testotoxicosis PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS Supplemental_disease_name DISEASE_NAME:pseudomonas_aeruginosa_susceptibility_to_chronic_infection_by_in_cystic_fibrosis Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis Supplemental_disease_name DISEASE_NAME:pseudopseudohypoparathyroidism_pseudohypoparathyroidism_progressive_osseous_heteroplasia_mccune_albright_syndrome Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism;Progressive osseous heteroplasia;McCune-Albright syndrome Supplemental_disease_name DISEASE_NAME:pseudovaginal_perineoscrotal_hypospadias Pseudovaginal perineoscrotal hypospadias Supplemental_disease_name DISEASE_NAME:pseudoxanthoma_elasticum_forme_fruste Pseudoxanthoma elasticum, forme fruste Supplemental_disease_name DISEASE_NAME:pseudoxanthoma_elasticum_forme_fruste_arterial_calcification_generalized_of_infancy_2_autosomal_recessive_inherited_pseudoxanthoma_elasticum Pseudoxanthoma elasticum, forme fruste;Arterial calcification, generalized, of infancy, 2;Autosomal recessive inherited pseudoxanthoma elasticum Supplemental_disease_name DISEASE_NAME:pseudoxanthoma_elasticum_forme_fruste_autosomal_recessive_inherited_pseudoxanthoma_elasticum_arterial_calcification_generalized_of_infancy_2 Pseudoxanthoma elasticum, forme fruste;Autosomal recessive inherited pseudoxanthoma elasticum;Arterial calcification, generalized, of infancy, 2 Supplemental_disease_name DISEASE_NAME:pseudoxanthoma_elasticum_modifier_of_severity_of PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF Supplemental_disease_name DISEASE_NAME:psma3_related_disorder PSMA3-related disorder Supplemental_disease_name DISEASE_NAME:psma6_related_disorder PSMA6-related disorder Supplemental_disease_name DISEASE_NAME:psma7_related_disorder PSMA7-related disorder Supplemental_disease_name DISEASE_NAME:psmb10_related_disorder PSMB10-related disorder Supplemental_disease_name DISEASE_NAME:psmb4_related_disorder PSMB4-related disorder Supplemental_disease_name DISEASE_NAME:psmb8_related_disorder PSMB8-related disorder Supplemental_disease_name DISEASE_NAME:psmb8_related_dominant_condition PSMB8-related dominant condition Supplemental_disease_name DISEASE_NAME:psmb9_related_disorder PSMB9-related disorder Supplemental_disease_name DISEASE_NAME:psmc3_related_neurodevelopmental_delay PSMC3-Related Neurodevelopmental Delay Supplemental_disease_name DISEASE_NAME:psmc3ip_related_disorder PSMC3IP-related disorder Supplemental_disease_name DISEASE_NAME:psmc5_related_neurodevelopmental_condition PSMC5-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:psmc5_related_neurodevelopmental_disorder PSMC5-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:psmc5_related_neurodevelopmental_proteasomopathy PSMC5-related Neurodevelopmental proteasomopathy Supplemental_disease_name DISEASE_NAME:psmd11_associated_obesity_and_neurodevelopmental_disorder PSMD11-associated obesity and neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:psmd11_related_disorders PSMD11-Related Disorders Supplemental_disease_name DISEASE_NAME:psmd12_related_disorder PSMD12-related disorder Supplemental_disease_name DISEASE_NAME:psmd13_related_disorder PSMD13-related disorder Supplemental_disease_name DISEASE_NAME:psmg2_related_disorder PSMG2-related disorder Supplemental_disease_name DISEASE_NAME:psoriasis_13_susceptibility_to Psoriasis 13, susceptibility to Supplemental_disease_name DISEASE_NAME:psoriasis_13_susceptibility_to_candidiasis_familial_8 Psoriasis 13, susceptibility to;Candidiasis, familial, 8 Supplemental_disease_name DISEASE_NAME:psoriasis_15_pustular_susceptibility_to Psoriasis 15, pustular, susceptibility to Supplemental_disease_name DISEASE_NAME:psoriasis_1_susceptibility_to Psoriasis 1, susceptibility to Supplemental_disease_name DISEASE_NAME:psoriasis_2_pityriasis_rubra_pilaris Psoriasis 2;Pityriasis rubra pilaris Supplemental_disease_name DISEASE_NAME:psoriasis_2_pustular PSORIASIS 2, PUSTULAR Supplemental_disease_name DISEASE_NAME:psoriasis_7_susceptibility_to_inflammatory_bowel_disease_17 Psoriasis 7, susceptibility to;Inflammatory bowel disease 17 Supplemental_disease_name DISEASE_NAME:psoriasis_protection_against Psoriasis, protection against Supplemental_disease_name DISEASE_NAME:psoriatic_arthritis_susceptibility_to Psoriatic arthritis, susceptibility to Supplemental_disease_name DISEASE_NAME:psoriatic_arthritis_susceptibility_to_blau_syndrome_yao_syndrome_inflammatory_bowel_disease_1 Psoriatic arthritis, susceptibility to;Blau syndrome;Yao syndrome;Inflammatory bowel disease 1 Supplemental_disease_name DISEASE_NAME:psoriatic_arthritis_susceptibility_to_inflammatory_bowel_disease_1_yao_syndrome_blau_syndrome Psoriatic arthritis, susceptibility to;Inflammatory bowel disease 1;Yao syndrome;Blau syndrome Supplemental_disease_name DISEASE_NAME:psors1c1_related_disorder PSORS1C1-related disorder Supplemental_disease_name DISEASE_NAME:psph_related_disorder PSPH-related disorder Supplemental_disease_name DISEASE_NAME:pstpip1_related_disorder PSTPIP1-related disorder Supplemental_disease_name DISEASE_NAME:psychomotor_regression_oculomotor_apraxia_movement_disorder_nephropathy_syndrome Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Supplemental_disease_name DISEASE_NAME:psychomotor_retardation Psychomotor retardation Supplemental_disease_name DISEASE_NAME:psychomotor_retardation_epilepsy_and_craniofacial_dysmorphism Psychomotor retardation, epilepsy, and craniofacial dysmorphism Supplemental_disease_name DISEASE_NAME:psychotic_disorder_moderate_global_developmental_delay_mutism Psychotic disorder;Moderate global developmental delay;Mutism Supplemental_disease_name DISEASE_NAME:ptbp1_related_disorder PTBP1-related disorder Supplemental_disease_name DISEASE_NAME:ptbp1_related_neurodevelopmental_disorder_with_skeletal_dysplasia PTBP1-related neurodevelopmental disorder with skeletal dysplasia Supplemental_disease_name DISEASE_NAME:ptbp2_related_neurodevelopmental_disease PTBP2-related neurodevelopmental disease Supplemental_disease_name DISEASE_NAME:ptcd3_related_disorder PTCD3-related disorder Supplemental_disease_name DISEASE_NAME:ptch1_related_disorder PTCH1-related disorder Supplemental_disease_name DISEASE_NAME:ptch2_related_disorder PTCH2-related disorder Supplemental_disease_name DISEASE_NAME:ptchd1_related_autism_and_intellectual_disability PTCHD1-related autism and intellectual disability Supplemental_disease_name DISEASE_NAME:ptchd1_related_disorder PTCHD1-related disorder Supplemental_disease_name DISEASE_NAME:ptchd1_related_neurodevelopmental_disorder PTCHD1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ptcra_polymorphism PTCRA POLYMORPHISM Supplemental_disease_name DISEASE_NAME:ptdss1_related_disorder PTDSS1-related disorder Supplemental_disease_name DISEASE_NAME:pten_hamartoma_tumor_syndrome_bannayan_riley_ruvalcaba_syndrome_cowden_syndrome PTEN hamartoma tumor syndrome;Bannayan-Riley-Ruvalcaba syndrome;Cowden syndrome Supplemental_disease_name DISEASE_NAME:pten_hamartoma_tumor_syndrome_bannayan_riley_ruvalcaba_syndrome_macrocephaly_autism_syndrome PTEN hamartoma tumor syndrome;Bannayan-Riley-Ruvalcaba syndrome;Macrocephaly-autism syndrome Supplemental_disease_name DISEASE_NAME:pten_hamartoma_tumor_syndromes PTEN hamartoma tumor syndromes Supplemental_disease_name DISEASE_NAME:pten_related_disorder PTEN-related disorder Supplemental_disease_name DISEASE_NAME:pterin_4_alpha_carbinolamine_dehydratase_1_deficiency Pterin-4 alpha-carbinolamine dehydratase 1 deficiency Supplemental_disease_name DISEASE_NAME:ptf1a_related_disorder PTF1A-related disorder Supplemental_disease_name DISEASE_NAME:ptgis_related_disorder PTGIS-related disorder Supplemental_disease_name DISEASE_NAME:ptgs1_related_disorder PTGS1-related disorder Supplemental_disease_name DISEASE_NAME:pth1r_related_disorder PTH1R-related disorder Supplemental_disease_name DISEASE_NAME:pth2r_related_disorder PTH2R-related disorder Supplemental_disease_name DISEASE_NAME:pth_related_disorder PTH-related disorder Supplemental_disease_name DISEASE_NAME:pthlh_related_disorder PTHLH-related disorder Supplemental_disease_name DISEASE_NAME:ptk7_related_disorder PTK7-related disorder Supplemental_disease_name DISEASE_NAME:ptosis_absence_of_the_sacrum_history_of_neonatal_hypotonia Ptosis;Absence of the sacrum;History of neonatal hypotonia Supplemental_disease_name DISEASE_NAME:ptosis_breathing_dysregulation_muscle_weakness_dyspnea Ptosis;Breathing dysregulation;Muscle weakness;Dyspnea Supplemental_disease_name DISEASE_NAME:ptosis_external_ophthalmoplegia Ptosis;External ophthalmoplegia Supplemental_disease_name DISEASE_NAME:ptosis_hereditary_congenital_1 Ptosis, hereditary congenital, 1 Supplemental_disease_name DISEASE_NAME:ptosis_short_stature_pulmonic_stenosis_abnormal_sternum_morphology Ptosis;Short stature;Pulmonic stenosis;Abnormal sternum morphology Supplemental_disease_name DISEASE_NAME:ptpn11_related_disorder PTPN11-related disorder Supplemental_disease_name DISEASE_NAME:ptpn12_related_disorder PTPN12-related disorder Supplemental_disease_name DISEASE_NAME:ptpn13_related_disorder PTPN13-related disorder Supplemental_disease_name DISEASE_NAME:ptpn14_related_disorder PTPN14-related disorder Supplemental_disease_name DISEASE_NAME:ptpn1_related_disorder PTPN1-related disorder Supplemental_disease_name DISEASE_NAME:ptpn22_related_disorder PTPN22-related disorder Supplemental_disease_name DISEASE_NAME:ptpn23_related_disorder PTPN23-related disorder Supplemental_disease_name DISEASE_NAME:ptpn23_related_neurodevelopmental_disorder PTPN23-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ptpn4_associated_disorder PTPN4-associated disorder Supplemental_disease_name DISEASE_NAME:ptpn4_related_aberrant_neurodevelopment_and_growth PTPN4-related aberrant neurodevelopment and growth Supplemental_disease_name DISEASE_NAME:ptpn4_related_disorder PTPN4-related disorder Supplemental_disease_name DISEASE_NAME:ptpn4_related_neurodevelopmental_disorder PTPN4-related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:ptprb_related_disorder PTPRB-related disorder Supplemental_disease_name DISEASE_NAME:ptprc_polymorphism PTPRC POLYMORPHISM Supplemental_disease_name DISEASE_NAME:ptprc_related_disorder PTPRC-related disorder Supplemental_disease_name DISEASE_NAME:ptprd_related_disorder PTPRD-related disorder Supplemental_disease_name DISEASE_NAME:ptprf_related_disorder PTPRF-related disorder Supplemental_disease_name DISEASE_NAME:ptprh_related_disorder PTPRH-related disorder Supplemental_disease_name DISEASE_NAME:ptprj_related_disorder PTPRJ-related disorder Supplemental_disease_name DISEASE_NAME:ptprm_related_disorder PTPRM-related disorder Supplemental_disease_name DISEASE_NAME:ptpro_related_disorder PTPRO-related disorder Supplemental_disease_name DISEASE_NAME:ptprq_related_disorder PTPRQ-related disorder Supplemental_disease_name DISEASE_NAME:ptprs_related_disorder PTPRS-related disorder Supplemental_disease_name DISEASE_NAME:ptprt_associated_neurodevelopmental_disorder PTPRT-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ptprt_associated_neurodevelopmentaldisorder PTPRT-associated neurodevelopmentaldisorder Supplemental_disease_name DISEASE_NAME:ptprt_related_disorder PTPRT-related disorder Supplemental_disease_name DISEASE_NAME:ptpru_related_disorder PTPRU-related disorder Supplemental_disease_name DISEASE_NAME:ptrh2_related_disorder PTRH2-related disorder Supplemental_disease_name DISEASE_NAME:ptrhd1_related_disorder PTRHD1-related disorder Supplemental_disease_name DISEASE_NAME:pts_related_disorder PTS-related disorder Supplemental_disease_name DISEASE_NAME:ptx3_related_disorder PTX3-related disorder Supplemental_disease_name DISEASE_NAME:pu_1_mutated_agammaglobulinemia PU.1-mutated agammaglobulinemia Supplemental_disease_name DISEASE_NAME:puf60_related_disorder PUF60-related disorder Supplemental_disease_name DISEASE_NAME:pulmonary_alveolar_proteinosis_with_hypogammaglobulinemia Pulmonary alveolar proteinosis with hypogammaglobulinemia Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension Pulmonary arterial hypertension Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_associated_with_another_disease Pulmonary arterial hypertension associated with another disease Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_associated_with_congenital_heart_disease Pulmonary arterial hypertension associated with congenital heart disease Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_associated_with_congenital_heart_disease_pulmonary_arterial_hypertension_associated_with_another_disease_pulmonary_arterial_hypertension Pulmonary arterial hypertension associated with congenital heart disease;Pulmonary arterial hypertension associated with another disease;Pulmonary arterial hypertension Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_drug_or_toxin_induced_pulmonary_arterial_hypertension_pulmonary_arterial_hypertension_associated_with_another_disease Pulmonary arterial hypertension;Drug- or toxin-induced pulmonary arterial hypertension;Pulmonary arterial hypertension associated with another disease Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_idiopathic_and_or_familial_pulmonary_arterial_hypertension Pulmonary arterial hypertension;Idiopathic and/or familial pulmonary arterial hypertension Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_pulmonary_arterial_hypertension_associated_with_another_disease Pulmonary arterial hypertension;Pulmonary arterial hypertension associated with another disease Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_pulmonary_arterial_hypertension_associated_with_another_disease_pulmonary_arterial_hypertension_associated_with_congenital_heart_disease Pulmonary arterial hypertension;Pulmonary arterial hypertension associated with another disease;Pulmonary arterial hypertension associated with congenital heart disease Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_pulmonary_arterial_hypertension_associated_with_another_disease_pulmonary_arterial_hypertension_associated_with_connective_tissue_disease Pulmonary arterial hypertension;Pulmonary arterial hypertension associated with another disease;Pulmonary arterial hypertension associated with connective tissue disease Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_pulmonary_arterial_hypertension_associated_with_another_disease_pulmonary_arterial_hypertension_associated_with_hiv_infection Pulmonary arterial hypertension;Pulmonary arterial hypertension associated with another disease;Pulmonary arterial hypertension associated with HIV infection Supplemental_disease_name DISEASE_NAME:pulmonary_arterial_hypertension_related_to_hereditary_hemorrhagic_telangiectasia Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Supplemental_disease_name DISEASE_NAME:pulmonary_arteriovenous_malformation Pulmonary arteriovenous malformation Supplemental_disease_name DISEASE_NAME:pulmonary_artery_atresia Pulmonary artery atresia Supplemental_disease_name DISEASE_NAME:pulmonary_atresia_with_intact_ventricular_septum Pulmonary atresia with intact ventricular septum Supplemental_disease_name DISEASE_NAME:pulmonary_disease_chronic_obstructive_rate_of_decline_of_lung_function_in PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN Supplemental_disease_name DISEASE_NAME:pulmonary_disease_chronic_obstructive_susceptibility_to Pulmonary disease, chronic obstructive, susceptibility to Supplemental_disease_name DISEASE_NAME:pulmonary_embolism_deep_venous_thrombosis Pulmonary embolism;Deep venous thrombosis Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_7 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8_cerebroretinal_microangiopathy_with_calcifications_and_cysts_3_tumor_predisposition_syndrome_3 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8;Cerebroretinal microangiopathy with calcifications and cysts 3;Tumor predisposition syndrome 3 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8_tumor_predisposition_syndrome_3 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8;Tumor predisposition syndrome 3 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8_tumor_predisposition_syndrome_3_cerebroretinal_microangiopathy_with_calcifications_and_cysts_3 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8;Tumor predisposition syndrome 3;Cerebroretinal microangiopathy with calcifications and cysts 3 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_9 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_9_dyskeratosis_congenita_autosomal_recessive_1_cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_2 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9;Dyskeratosis congenita, autosomal recessive 1;Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_acute_myeloid_leukemia_dyskeratosis_congenita_autosomal_dominant_2_melanoma_cutaneous_malignant_susceptibility_to_9 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Acute myeloid leukemia;Dyskeratosis congenita, autosomal dominant 2;Melanoma, cutaneous malignant, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_acute_myeloid_leukemia_melanoma_cutaneous_malignant_susceptibility_to_9_dyskeratosis_congenita_autosomal_dominant_2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Acute myeloid leukemia;Melanoma, cutaneous malignant, susceptibility to, 9;Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_dyskeratosis_congenita_autosomal_dominant_2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_2 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_2_dyskeratosis_congenita_autosomal_dominant_1 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2;Dyskeratosis congenita, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_3 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_3_dyskeratosis_congenita_autosomal_recessive_5 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3;Dyskeratosis congenita, autosomal recessive 5 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_4 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_4_dyskeratosis_congenita_autosomal_recessive_6 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4;Dyskeratosis congenita, autosomal recessive 6 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_5 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_6 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_familial_interstitial_pneumonia Pulmonary fibrosis;Familial Interstitial Pneumonia Supplemental_disease_name DISEASE_NAME:pulmonary_fibrosis_idiopathic_susceptibility_to Pulmonary fibrosis, idiopathic, susceptibility to Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_neonatal_susceptibility_to Pulmonary hypertension, neonatal, susceptibility to Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_neonatal_susceptibility_to_congenital_hyperammonemia_type_i Pulmonary hypertension, neonatal, susceptibility to;Congenital hyperammonemia, type I Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_1 Pulmonary hypertension, primary, 1 Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_1_coxopodopatellar_syndrome Pulmonary hypertension, primary, 1;Coxopodopatellar syndrome Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_1_pulmonary_venoocclusive_disease_1 Pulmonary hypertension, primary, 1;Pulmonary venoocclusive disease 1 Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_1_with_hereditary_hemorrhagic_telangiectasia Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_2 Pulmonary hypertension, primary, 2 Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_3 Pulmonary hypertension, primary, 3 Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_3_congenital_generalized_lipodystrophy_type_3 Pulmonary hypertension, primary, 3;Congenital generalized lipodystrophy type 3 Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_3_congenital_generalized_lipodystrophy_type_3_partial_lipodystrophy_congenital_cataracts_and_neurodegeneration_syndrome Pulmonary hypertension, primary, 3;Congenital generalized lipodystrophy type 3;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_3_partial_lipodystrophy_congenital_cataracts_and_neurodegeneration_syndrome Pulmonary hypertension, primary, 3;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_4 Pulmonary hypertension, primary, 4 Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_5 Pulmonary hypertension, primary, 5 Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_6 Pulmonary hypertension, primary, 6 Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_7 Pulmonary hypertension, primary, 7 Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_dexfenfluramine_associated Pulmonary hypertension, primary, dexfenfluramine-associated Supplemental_disease_name DISEASE_NAME:pulmonary_hypertension_primary_fenfluramine_associated Pulmonary hypertension, primary, fenfluramine-associated Supplemental_disease_name DISEASE_NAME:pulmonary_hypoplasia Pulmonary hypoplasia Supplemental_disease_name DISEASE_NAME:pulmonary_surfactant_metabolism_dysfunction Pulmonary surfactant metabolism dysfunction Supplemental_disease_name DISEASE_NAME:pulmonary_surfactant_metabolism_dysfunction_dominant Pulmonary Surfactant Metabolism Dysfunction, Dominant Supplemental_disease_name DISEASE_NAME:pulmonary_valve_stenosis_rare_ventricular_tachycardia Pulmonary valve stenosis (rare);Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:pulmonary_venoocclusive_disease_1_pulmonary_hypertension_primary_1 Pulmonary venoocclusive disease 1;Pulmonary hypertension, primary, 1 Supplemental_disease_name DISEASE_NAME:pulmonic_stenosis Pulmonic stenosis Supplemental_disease_name DISEASE_NAME:pulmonic_stenosis_noonan_like_facies_intellectual_disability Pulmonic stenosis;Noonan-like facies;Intellectual disability Supplemental_disease_name DISEASE_NAME:pulmonic_stenosis_supravalvar_aortic_stenosis Pulmonic stenosis;Supravalvar aortic stenosis Supplemental_disease_name DISEASE_NAME:pulmonic_stenosis_tricuspid_regurgitation_pulmonary_valve_atresia Pulmonic stenosis;Tricuspid regurgitation;Pulmonary valve atresia Supplemental_disease_name DISEASE_NAME:pulp_calcification_dentinogenesis_imperfecta_type_2_dentinogenesis_imperfecta_type_3_deafness_autosomal_dominant_39_with_dentinogenesis_imperfecta_1 Pulp calcification;Dentinogenesis imperfecta type 2;Dentinogenesis imperfecta type 3;Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 Supplemental_disease_name DISEASE_NAME:pulp_calcification_dentinogenesis_imperfecta_type_3_deafness_autosomal_dominant_39_with_dentinogenesis_imperfecta_1_dentinogenesis_imperfecta_type_2 Pulp calcification;Dentinogenesis imperfecta type 3;Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1;Dentinogenesis imperfecta type 2 Supplemental_disease_name DISEASE_NAME:pum1_associated_developmental_disability_ataxia_seizure_syndrome_spinocerebellar_ataxia_47 PUM1-associated developmental disability-ataxia-seizure syndrome;Spinocerebellar ataxia 47 Supplemental_disease_name DISEASE_NAME:pum1_related_disorder PUM1-related disorder Supplemental_disease_name DISEASE_NAME:punctate_palmoplantar_keratoderma_type_2 Punctate palmoplantar keratoderma type 2 Supplemental_disease_name DISEASE_NAME:pura_related_disorder PURA-related disorder Supplemental_disease_name DISEASE_NAME:pura_related_neurodevelopmental_disorder PURA-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:pura_related_severe_neonatal_hypotonia_seizures_encephalopathy_syndrome PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Supplemental_disease_name DISEASE_NAME:pura_related_severe_neonatal_hypotonia_seizures_encephalopathy_syndrome_due_to_a_point_mutation PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Supplemental_disease_name DISEASE_NAME:pura_syndrome PURA Syndrome Supplemental_disease_name DISEASE_NAME:pure_mitochondrial_myopathy Pure mitochondrial myopathy Supplemental_disease_name DISEASE_NAME:pure_or_complex_autosomal_recessive_spastic_paraplegia Pure or complex autosomal recessive spastic paraplegia Supplemental_disease_name DISEASE_NAME:pus1_related_disorder PUS1-related disorder Supplemental_disease_name DISEASE_NAME:pus3_related_disorder PUS3-related disorder Supplemental_disease_name DISEASE_NAME:pus7_related_disorder PUS7-related disorder Supplemental_disease_name DISEASE_NAME:pvr_related_disorder PVR-related disorder Supplemental_disease_name DISEASE_NAME:pxdn_related_disorder PXDN-related disorder Supplemental_disease_name DISEASE_NAME:pxdnl_related_disorder PXDNL-related disorder Supplemental_disease_name DISEASE_NAME:pycr1_related_autosomal_recessive_cutis_laxa PYCR1- related autosomal recessive cutis laxa Supplemental_disease_name DISEASE_NAME:pycr1_related_de_barsy_syndrome PYCR1-related de Barsy syndrome Supplemental_disease_name DISEASE_NAME:pycr1_related_de_barsy_syndrome_autosomal_recessive_cutis_laxa_type_2b PYCR1-related de Barsy syndrome;Autosomal recessive cutis laxa type 2B Supplemental_disease_name DISEASE_NAME:pycr1_related_disorder PYCR1-related disorder Supplemental_disease_name DISEASE_NAME:pycr2_related_disorder PYCR2-related disorder Supplemental_disease_name DISEASE_NAME:pygl_related_disorder PYGL-related disorder Supplemental_disease_name DISEASE_NAME:pygm_related_disorder PYGM-related disorder Supplemental_disease_name DISEASE_NAME:pyhin1_related_disorder PYHIN1-related disorder Supplemental_disease_name DISEASE_NAME:pyknodysostosis Pyknodysostosis Supplemental_disease_name DISEASE_NAME:pyle_metaphyseal_dysplasia Pyle metaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:pyloric_stenosis_esophageal_atresia Pyloric stenosis;Esophageal atresia Supplemental_disease_name DISEASE_NAME:pyloric_stenosis_infantile_hypertrophic_1 Pyloric stenosis, infantile hypertrophic, 1 Supplemental_disease_name DISEASE_NAME:pyloric_stenosis_infantile_hypertrophic_5 Pyloric stenosis, infantile hypertrophic, 5 Supplemental_disease_name DISEASE_NAME:pyogenic_arthritis_pyoderma_gangrenosum_acne_syndrome Pyogenic arthritis-pyoderma gangrenosum-acne syndrome Supplemental_disease_name DISEASE_NAME:pyogenic_arthritis_pyoderma_gangrenosum_acne_syndrome_hyperzincemia_and_hypercalprotectinemia Pyogenic arthritis-pyoderma gangrenosum-acne syndrome;Hyperzincemia and hypercalprotectinemia Supplemental_disease_name DISEASE_NAME:pyogenic_bacterial_infections_due_to_myd88_deficiency Pyogenic bacterial infections due to MyD88 deficiency Supplemental_disease_name DISEASE_NAME:pyogenic_granuloma Pyogenic granuloma Supplemental_disease_name DISEASE_NAME:pyridine_nucleotide_disulfide_oxidoreductase_domain_2_related_mitochanodrial_defect Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 related mitochanodrial defect Supplemental_disease_name DISEASE_NAME:pyridoxine_dependent_epilepsy_caused_by_aldh7a1_mutant Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant Supplemental_disease_name DISEASE_NAME:pyrin_associated_autoinflammatory_disease Pyrin-associated autoinflammatory disease Supplemental_disease_name DISEASE_NAME:pyropoikilocytosis_hereditary Pyropoikilocytosis, hereditary Supplemental_disease_name DISEASE_NAME:pyropoikilocytosis_hereditary_elliptocytosis_2_hereditary_spherocytosis_type_3 Pyropoikilocytosis, hereditary;Elliptocytosis 2;Hereditary spherocytosis type 3 Supplemental_disease_name DISEASE_NAME:pyropoikilocytosis_hereditary_hereditary_spherocytosis_type_3 Pyropoikilocytosis, hereditary;Hereditary spherocytosis type 3 Supplemental_disease_name DISEASE_NAME:pyropoikilocytosis_hereditary_hereditary_spherocytosis_type_3_elliptocytosis_2 Pyropoikilocytosis, hereditary;Hereditary spherocytosis type 3;Elliptocytosis 2 Supplemental_disease_name DISEASE_NAME:pyroxd1_related_disorder PYROXD1-related disorder Supplemental_disease_name DISEASE_NAME:pyruvate_carboxylase_deficiency Pyruvate carboxylase deficiency Supplemental_disease_name DISEASE_NAME:pyruvate_carboxylase_deficiency_thrombophilia_due_to_protein_c_deficiency_autosomal_dominant_thrombophilia_due_to_protein_c_deficiency_autosomal_recessive Pyruvate carboxylase deficiency;Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive Supplemental_disease_name DISEASE_NAME:pyruvate_dehydrogenase_complex_deficiency Pyruvate dehydrogenase complex deficiency Supplemental_disease_name DISEASE_NAME:pyruvate_dehydrogenase_e1_alpha_deficiency Pyruvate dehydrogenase E1-alpha deficiency Supplemental_disease_name DISEASE_NAME:pyruvate_dehydrogenase_e1_beta_deficiency Pyruvate dehydrogenase E1-beta deficiency Supplemental_disease_name DISEASE_NAME:pyruvate_dehydrogenase_e2_deficiency Pyruvate dehydrogenase E2 deficiency Supplemental_disease_name DISEASE_NAME:pyruvate_dehydrogenase_e3_binding_protein_deficiency Pyruvate dehydrogenase E3-binding protein deficiency Supplemental_disease_name DISEASE_NAME:pyruvate_dehydrogenase_e3_deficiency Pyruvate dehydrogenase E3 deficiency Supplemental_disease_name DISEASE_NAME:pyruvate_dehydrogenase_phosphatase_deficiency Pyruvate dehydrogenase phosphatase deficiency Supplemental_disease_name DISEASE_NAME:pyruvate_kinase_deficiency_of_red_cells_pyruvate_kinase_hyperactivity Pyruvate kinase deficiency of red cells;Pyruvate kinase hyperactivity Supplemental_disease_name DISEASE_NAME:pyruvate_kinase_hyperactivity Pyruvate kinase hyperactivity Supplemental_disease_name DISEASE_NAME:pyruvate_kinase_hyperactivity_pyruvate_kinase_deficiency_of_red_cells Pyruvate kinase hyperactivity;Pyruvate kinase deficiency of red cells Supplemental_disease_name DISEASE_NAME:qars1_related_disorder QARS1-related disorder Supplemental_disease_name DISEASE_NAME:qdpr_related_disorder QDPR-related disorder Supplemental_disease_name DISEASE_NAME:qrich1_related_disorder QRICH1-related disorder Supplemental_disease_name DISEASE_NAME:qrich1_related_neurodevelopmental_disorder QRICH1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:qrich2_related_disorder QRICH2-related disorder Supplemental_disease_name DISEASE_NAME:qrsl1_related_disorder QRSL1-related disorder Supplemental_disease_name DISEASE_NAME:qt_prolongation_and_arrhythmias_in_the_absence_of_other_syndromic_features_arrhythmogenic_disorders_short_qt_interval_with_or_without_a_brugada_syndrome_ecg_pattern_timothy_syndrome QT prolongation and arrhythmias in the absence of other syndromic features;arrhythmogenic disorders;short QT interval with or without a Brugada syndrome ECG pattern;Timothy syndrome Supplemental_disease_name DISEASE_NAME:qualitative_or_quantitative_defects_of_alpha_sarcoglycan Qualitative or quantitative defects of alpha-sarcoglycan Supplemental_disease_name DISEASE_NAME:qualitative_or_quantitative_defects_of_beta_sarcoglycan Qualitative or quantitative defects of beta-sarcoglycan Supplemental_disease_name DISEASE_NAME:qualitative_or_quantitative_defects_of_calpain Qualitative or quantitative defects of calpain Supplemental_disease_name DISEASE_NAME:qualitative_or_quantitative_defects_of_collagen_6 Qualitative or quantitative defects of collagen 6 Supplemental_disease_name DISEASE_NAME:qualitative_or_quantitative_defects_of_delta_sarcoglycan Qualitative or quantitative defects of delta-sarcoglycan Supplemental_disease_name DISEASE_NAME:qualitative_or_quantitative_defects_of_dysferlin Qualitative or quantitative defects of dysferlin Supplemental_disease_name DISEASE_NAME:qualitative_or_quantitative_defects_of_merosin Qualitative or quantitative defects of merosin Supplemental_disease_name DISEASE_NAME:qualitative_or_quantitative_defects_of_myotubularin Qualitative or quantitative defects of myotubularin Supplemental_disease_name DISEASE_NAME:quebec_platelet_disorder_alzheimer_disease_type_1 Quebec platelet disorder;Alzheimer disease type 1 Supplemental_disease_name DISEASE_NAME:question_mark_ears_isolated Question mark ears, isolated Supplemental_disease_name DISEASE_NAME:question_mark_ears_isolated_auriculocondylar_syndrome_3 Question mark ears, isolated;Auriculocondylar syndrome 3 Supplemental_disease_name DISEASE_NAME:rab11a_associated_neurodevelopmental_condition RAB11A-associated neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:rab11a_related_disorder RAB11A-related disorder Supplemental_disease_name DISEASE_NAME:rab11b_related_disorder RAB11B-related disorder Supplemental_disease_name DISEASE_NAME:rab11fip5_related_disorder RAB11FIP5-related disorder Supplemental_disease_name DISEASE_NAME:rab12_related_disorder RAB12-related disorder Supplemental_disease_name DISEASE_NAME:rab14_related_disorder RAB14-related disorder Supplemental_disease_name DISEASE_NAME:rab18_related_disorder RAB18-related disorder Supplemental_disease_name DISEASE_NAME:rab23_related_carpenter_syndrome RAB23-related Carpenter syndrome Supplemental_disease_name DISEASE_NAME:rab23_related_disorder RAB23-related disorder Supplemental_disease_name DISEASE_NAME:rab27a_related_disorder RAB27A-related disorder Supplemental_disease_name DISEASE_NAME:rab28_related_disorder RAB28-related disorder Supplemental_disease_name DISEASE_NAME:rab29_related_disorder RAB29-related disorder Supplemental_disease_name DISEASE_NAME:rab33b_related_disorder RAB33B-related disorder Supplemental_disease_name DISEASE_NAME:rab39b_related_disorder RAB39B-related disorder Supplemental_disease_name DISEASE_NAME:rab3a_related_condition RAB3A-related condition Supplemental_disease_name DISEASE_NAME:rab3a_related_disorder RAB3A-related disorder Supplemental_disease_name DISEASE_NAME:rab3gap1_related_disorder RAB3GAP1-related disorder Supplemental_disease_name DISEASE_NAME:rab3gap2_related_disorder RAB3GAP2-related disorder Supplemental_disease_name DISEASE_NAME:rab43_related_disorder RAB43-related disorder Supplemental_disease_name DISEASE_NAME:rab5b_associated_surfactant_dysfunction_disorder RAB5B-associated surfactant dysfunction disorder Supplemental_disease_name DISEASE_NAME:rab5c_associated_macrocephaly_and_developmental_delay RAB5C-associated macrocephaly and developmental delay Supplemental_disease_name DISEASE_NAME:rab5c_related_developmental_disorder RAB5C-related developmental disorder Supplemental_disease_name DISEASE_NAME:rab5c_related_disorder RAB5C-related disorder Supplemental_disease_name DISEASE_NAME:rab5c_related_neurodevelopmental_disorder RAB5C-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rab7a_related_disorder RAB7A-related disorder Supplemental_disease_name DISEASE_NAME:rabin_pappas_syndrome Rabin-Pappas syndrome Supplemental_disease_name DISEASE_NAME:rabin_pappas_syndrome_intellectual_developmental_disorder_autosomal_dominant_70_luscan_lumish_syndrome Rabin-Pappas syndrome;Intellectual developmental disorder, autosomal dominant 70;Luscan-Lumish syndrome Supplemental_disease_name DISEASE_NAME:rabl3_related_disorder RABL3-related disorder Supplemental_disease_name DISEASE_NAME:rabson_mendenhall_syndrome Rabson-Mendenhall syndrome Supplemental_disease_name DISEASE_NAME:rabson_mendenhall_syndrome_hyperinsulinism_due_to_insr_deficiency_leprechaunism_syndrome_insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans Rabson-Mendenhall syndrome;Hyperinsulinism due to INSR deficiency;Leprechaunism syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans Supplemental_disease_name DISEASE_NAME:rabson_mendenhall_syndrome_insulin_resistant_diabetes_mellitus_and_acanthosis_nigricans_hyperinsulinism_due_to_insr_deficiency_leprechaunism_syndrome Rabson-Mendenhall syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Hyperinsulinism due to INSR deficiency;Leprechaunism syndrome Supplemental_disease_name DISEASE_NAME:rabson_mendenhall_syndrome_leprechaunism_syndrome_hyperinsulinism_due_to_insr_deficiency Rabson-Mendenhall syndrome;Leprechaunism syndrome;Hyperinsulinism due to INSR deficiency Supplemental_disease_name DISEASE_NAME:rac1_related_disorder RAC1-related disorder Supplemental_disease_name DISEASE_NAME:rac2_related_disorder RAC2-related disorder Supplemental_disease_name DISEASE_NAME:rac3_related_disorder RAC3-related disorder Supplemental_disease_name DISEASE_NAME:rad1_related_disorder RAD1-related disorder Supplemental_disease_name DISEASE_NAME:rad21_related_disorder RAD21-related disorder Supplemental_disease_name DISEASE_NAME:rad23b_related_disorder RAD23B-related disorder Supplemental_disease_name DISEASE_NAME:rad50_related_disorder RAD50-related disorder Supplemental_disease_name DISEASE_NAME:rad51_related_disorder RAD51-related disorder Supplemental_disease_name DISEASE_NAME:rad51b_related_cancer_predisposition RAD51B-related cancer predisposition Supplemental_disease_name DISEASE_NAME:rad51b_related_disorder RAD51B-related disorder Supplemental_disease_name DISEASE_NAME:rad51c_related_cancer_predisposition RAD51C-related cancer predisposition Supplemental_disease_name DISEASE_NAME:rad51c_related_disorder RAD51C-related disorder Supplemental_disease_name DISEASE_NAME:rad51d_related_cancer_predisposition RAD51D-related cancer predisposition Supplemental_disease_name DISEASE_NAME:rad51d_related_disorder RAD51D-related disorder Supplemental_disease_name DISEASE_NAME:rad52_related_disorder RAD52-related disorder Supplemental_disease_name DISEASE_NAME:rad54l_related_disorder RAD54L-related disorder Supplemental_disease_name DISEASE_NAME:rad9b_related_disorder RAD9B-related disorder Supplemental_disease_name DISEASE_NAME:radial_ray_deficiency Radial ray deficiency Supplemental_disease_name DISEASE_NAME:radin_blood_group_antigen RADIN BLOOD GROUP ANTIGEN Supplemental_disease_name DISEASE_NAME:radio_tartaglia_syndrome Radio-Tartaglia syndrome Supplemental_disease_name DISEASE_NAME:radioulnar_synostosis_frontal_bossing_premature_closure_of_fontanelles_plagiocephaly Radioulnar synostosis;Frontal bossing;Premature closure of fontanelles;Plagiocephaly Supplemental_disease_name DISEASE_NAME:radioulnar_synostosis_microcephaly_scoliosis_syndrome Radioulnar synostosis-microcephaly-scoliosis syndrome Supplemental_disease_name DISEASE_NAME:radioulnar_synostosis_nonsyndromic_susceptibility_to Radioulnar synostosis, nonsyndromic, susceptibility to Supplemental_disease_name DISEASE_NAME:radioulnar_synostosis_nonsyndromic_susceptibility_to_aortic_valve_disease_2_craniosynostosis_7 Radioulnar synostosis, nonsyndromic, susceptibility to;Aortic valve disease 2;Craniosynostosis 7 Supplemental_disease_name DISEASE_NAME:radioulnar_synostosis_nonsyndromic_susceptibility_to_craniosynostosis_7 Radioulnar synostosis, nonsyndromic, susceptibility to;Craniosynostosis 7 Supplemental_disease_name DISEASE_NAME:radioulnar_synostosis_nonsyndromic_susceptibility_to_craniosynostosis_7_aortic_valve_disease_2 Radioulnar synostosis, nonsyndromic, susceptibility to;Craniosynostosis 7;Aortic valve disease 2 Supplemental_disease_name DISEASE_NAME:radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_1 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Supplemental_disease_name DISEASE_NAME:radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_2 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 Supplemental_disease_name DISEASE_NAME:raf1_related_disorder RAF1-related disorder Supplemental_disease_name DISEASE_NAME:rag1_related_disorder RAG1-related disorder Supplemental_disease_name DISEASE_NAME:rag2_related_disorder RAG2-related disorder Supplemental_disease_name DISEASE_NAME:rahman_syndrome Rahman syndrome Supplemental_disease_name DISEASE_NAME:rai1_related_disorder RAI1-related disorder Supplemental_disease_name DISEASE_NAME:raine_syndrome Raine syndrome Supplemental_disease_name DISEASE_NAME:rajab_interstitial_lung_disease_with_brain_calcifications Rajab interstitial lung disease with brain calcifications Supplemental_disease_name DISEASE_NAME:rajab_interstitial_lung_disease_with_brain_calcifications_1 Rajab interstitial lung disease with brain calcifications 1 Supplemental_disease_name DISEASE_NAME:rajab_interstitial_lung_disease_with_brain_calcifications_2 Rajab interstitial lung disease with brain calcifications 2 Supplemental_disease_name DISEASE_NAME:rala_related_disorder RALA-related disorder Supplemental_disease_name DISEASE_NAME:ralgapa1_related_disorder RALGAPA1-related disorder Supplemental_disease_name DISEASE_NAME:ralgapb_related_disorder RALGAPB-related disorder Supplemental_disease_name DISEASE_NAME:ramp2_related_disorder RAMP2-related disorder Supplemental_disease_name DISEASE_NAME:ranbp17_related_disorder RANBP17-related disorder Supplemental_disease_name DISEASE_NAME:ranbp2_related_disorder RANBP2-related disorder Supplemental_disease_name DISEASE_NAME:rangrf_related_disorder RANGRF-related disorder Supplemental_disease_name DISEASE_NAME:rap1a_related_disorder RAP1A-related disorder Supplemental_disease_name DISEASE_NAME:rap1b_related_disorder RAP1B-related disorder Supplemental_disease_name DISEASE_NAME:rap1gds1_related_disorder RAP1GDS1-related disorder Supplemental_disease_name DISEASE_NAME:rapadilino_syndrome_baller_gerold_syndrome_rothmund_thomson_syndrome_type_2 Rapadilino syndrome;Baller-Gerold syndrome;Rothmund-Thomson syndrome type 2 Supplemental_disease_name DISEASE_NAME:rapadilino_syndrome_rothmund_thomson_syndrome_baller_gerold_syndrome Rapadilino syndrome;Rothmund-Thomson syndrome;Baller-Gerold syndrome Supplemental_disease_name DISEASE_NAME:rapadilino_syndrome_rothmund_thomson_syndrome_type_2_baller_gerold_syndrome Rapadilino syndrome;Rothmund-Thomson syndrome type 2;Baller-Gerold syndrome Supplemental_disease_name DISEASE_NAME:raph_blood_group_system_epidermolysis_bullosa_simplex_7_with_nephropathy_and_deafness RAPH BLOOD GROUP SYSTEM;Epidermolysis bullosa simplex 7, with nephropathy and deafness Supplemental_disease_name DISEASE_NAME:rapsn_related_disorder RAPSN-related disorder Supplemental_disease_name DISEASE_NAME:rarb_related_disorder RARB-related disorder Supplemental_disease_name DISEASE_NAME:rare Rare Supplemental_disease_name DISEASE_NAME:rare_anaemia Rare anaemia Supplemental_disease_name DISEASE_NAME:rare_combined_vascular_malformation Rare combined vascular malformation Supplemental_disease_name DISEASE_NAME:rare_disease_with_autism Rare disease with autism Supplemental_disease_name DISEASE_NAME:rare_disease_with_thoracic_aortic_aneurysm_and_aortic_dissection Rare disease with thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:rare_epilepsy Rare epilepsy Supplemental_disease_name DISEASE_NAME:rare_genetic_deafness Rare genetic deafness Supplemental_disease_name DISEASE_NAME:rare_genetic_deafness_deafness_infertility_syndrome Rare genetic deafness;Deafness-infertility syndrome Supplemental_disease_name DISEASE_NAME:rare_genetic_deafness_nonsyndromic_genetic_hearing_loss Rare genetic deafness;Nonsyndromic genetic hearing loss Supplemental_disease_name DISEASE_NAME:rare_genetic_deafness_usher_syndrome Rare genetic deafness;Usher syndrome Supplemental_disease_name DISEASE_NAME:rare_genetic_deafness_wolfram_syndrome_1 Rare genetic deafness;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:rare_genetic_inflammatory_skin_disorders Rare genetic inflammatory skin disorders Supplemental_disease_name DISEASE_NAME:rare_genetic_intellectual_disability Rare genetic intellectual disability Supplemental_disease_name DISEASE_NAME:rare_genetic_intellectual_disability_rare_genetic_epilepsy Rare genetic intellectual disability;Rare genetic epilepsy Supplemental_disease_name DISEASE_NAME:rare_isolated_myopia Rare isolated myopia Supplemental_disease_name DISEASE_NAME:rare_syndromic_intellectual_disability Rare syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:rare_venous_malformation Rare venous malformation Supplemental_disease_name DISEASE_NAME:rare_venous_malformation_lymphatic_malformation Rare venous malformation;Lymphatic malformation Supplemental_disease_name DISEASE_NAME:rars1_related_disorder RARS1-related disorder Supplemental_disease_name DISEASE_NAME:rars2_related_disorder RARS2-related disorder Supplemental_disease_name DISEASE_NAME:ras_associated_autoimmune_leukoproliferative_disorder_1_somatic RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 1, SOMATIC Supplemental_disease_name DISEASE_NAME:ras_associated_autoimmune_leukoproliferative_disorder_2_somatic RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 2, SOMATIC Supplemental_disease_name DISEASE_NAME:ras_inhibitor_response Ras Inhibitor response Supplemental_disease_name DISEASE_NAME:rasa1_related_disorder RASA1-related disorder Supplemental_disease_name DISEASE_NAME:rasa2_related_disorder RASA2-related disorder Supplemental_disease_name DISEASE_NAME:rasef_related_disorder RASEF-related disorder Supplemental_disease_name DISEASE_NAME:rasgef1b_related_disorder RASGEF1B-related disorder Supplemental_disease_name DISEASE_NAME:rasgrp1_related_disorder RASGRP1-related disorder Supplemental_disease_name DISEASE_NAME:rasgrp2_related_disorder RASGRP2-related disorder Supplemental_disease_name DISEASE_NAME:rasip1_related_disorder RASIP1-related disorder Supplemental_disease_name DISEASE_NAME:rauch_steindl_syndrome Rauch-Steindl syndrome Supplemental_disease_name DISEASE_NAME:rax2_related_disorder RAX2-related disorder Supplemental_disease_name DISEASE_NAME:rax_related_disorder RAX-related disorder Supplemental_disease_name DISEASE_NAME:rb1_related_disorder RB1-related disorder Supplemental_disease_name DISEASE_NAME:rbbp5_related_syndromic_neurodevelopmental_condition RBBP5-related syndromic neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:rbbp6_related_disorder RBBP6-related disorder Supplemental_disease_name DISEASE_NAME:rbbp8_related_disorder RBBP8-related disorder Supplemental_disease_name DISEASE_NAME:rbck1_related_disorder RBCK1-related disorder Supplemental_disease_name DISEASE_NAME:rbfox1_related_disorder RBFOX1-related disorder Supplemental_disease_name DISEASE_NAME:rbfox2_related_congenital_heart_disorder RBFOX2-related congenital heart disorder Supplemental_disease_name DISEASE_NAME:rbfox3_related_disorder RBFOX3-related disorder Supplemental_disease_name DISEASE_NAME:rbl2_related_disorder RBL2-related disorder Supplemental_disease_name DISEASE_NAME:rbm10_related_disorder RBM10-related disorder Supplemental_disease_name DISEASE_NAME:rbm12_related_disorder RBM12-related disorder Supplemental_disease_name DISEASE_NAME:rbm20_related_disorder RBM20-related disorder Supplemental_disease_name DISEASE_NAME:rbm22_related_disorder RBM22-related disorder Supplemental_disease_name DISEASE_NAME:rbm27_related_disorder RBM27-related disorder Supplemental_disease_name DISEASE_NAME:rbm28_related_disorder RBM28-related disorder Supplemental_disease_name DISEASE_NAME:rbm8a_related_disorder RBM8A-related disorder Supplemental_disease_name DISEASE_NAME:rbmx_related_disorder RBMX-related disorder Supplemental_disease_name DISEASE_NAME:rbp3_related_disorder RBP3-related disorder Supplemental_disease_name DISEASE_NAME:rbp4_related_disorder RBP4-related disorder Supplemental_disease_name DISEASE_NAME:rbpj_related_disorder RBPJ-related disorder Supplemental_disease_name DISEASE_NAME:rbsn_related_disorder RBSN-related disorder Supplemental_disease_name DISEASE_NAME:rcan1_related_disorder RCAN1-related disorder Supplemental_disease_name DISEASE_NAME:rcbtb1_related_disorder RCBTB1-related disorder Supplemental_disease_name DISEASE_NAME:rcbtb1_related_retinopathy RCBTB1-related retinopathy Supplemental_disease_name DISEASE_NAME:rd3_related_disorder RD3-related disorder Supplemental_disease_name DISEASE_NAME:rdh11_related_disorder RDH11-related disorder Supplemental_disease_name DISEASE_NAME:rdh12_related_disorder RDH12-related disorder Supplemental_disease_name DISEASE_NAME:rdh5_related_disorder RDH5-related disorder Supplemental_disease_name DISEASE_NAME:rdx_related_disorder RDX-related disorder Supplemental_disease_name DISEASE_NAME:rec114_related_disorder REC114-related disorder Supplemental_disease_name DISEASE_NAME:recessive_ars_related_multisystem_disease recessive ARS-related multisystem disease Supplemental_disease_name DISEASE_NAME:recessive_dystrophic_epidermolysis_bullosa_copd_severe_early_onset Recessive dystrophic epidermolysis bullosa;COPD, severe early onset Supplemental_disease_name DISEASE_NAME:recessive_dystrophic_epidermolysis_bullosa_epidermolysis_bullosa_dystrophica Recessive dystrophic epidermolysis bullosa;Epidermolysis bullosa dystrophica Supplemental_disease_name DISEASE_NAME:recessive_dystrophic_epidermolysis_bullosa_epidermolysis_bullosa_pruriginosa_pretibial_dystrophic_epidermolysis_bullosa Recessive dystrophic epidermolysis bullosa;Epidermolysis bullosa pruriginosa;Pretibial dystrophic epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:recessive_dystrophic_epidermolysis_bullosa_epidermolysis_bullosa_pruriginosa_pretibial_dystrophic_epidermolysis_bullosa_transient_bullous_dermolysis_of_the_newborn Recessive dystrophic epidermolysis bullosa;Epidermolysis bullosa pruriginosa;Pretibial dystrophic epidermolysis bullosa;Transient bullous dermolysis of the newborn Supplemental_disease_name DISEASE_NAME:recessive_dystrophic_epidermolysis_bullosa_generalized_dominant_dystrophic_epidermolysis_bullosa Recessive dystrophic epidermolysis bullosa;Generalized dominant dystrophic epidermolysis bullosa Supplemental_disease_name DISEASE_NAME:recessive_dystrophic_epidermolysis_bullosa_pretibial_dystrophic_epidermolysis_bullosa_epidermolysis_bullosa_pruriginosa Recessive dystrophic epidermolysis bullosa;Pretibial dystrophic epidermolysis bullosa;Epidermolysis bullosa pruriginosa Supplemental_disease_name DISEASE_NAME:recessive_dystrophic_epidermolysis_bullosa_pretibial_dystrophic_epidermolysis_bullosa_transient_bullous_dermolysis_of_the_newborn_epidermolysis_bullosa_pruriginosa Recessive dystrophic epidermolysis bullosa;Pretibial dystrophic epidermolysis bullosa;Transient bullous dermolysis of the newborn;Epidermolysis bullosa pruriginosa Supplemental_disease_name DISEASE_NAME:recessive_dystrophic_epidermolysis_bullosa_transient_bullous_dermolysis_of_the_newborn_pretibial_dystrophic_epidermolysis_bullosa_epidermolysis_bullosa_pruriginosa Recessive dystrophic epidermolysis bullosa;Transient bullous dermolysis of the newborn;Pretibial dystrophic epidermolysis bullosa;Epidermolysis bullosa pruriginosa Supplemental_disease_name DISEASE_NAME:recessive_marfanoid_syndrome_with_severe_herniation Recessive Marfanoid Syndrome with Severe Herniation Supplemental_disease_name DISEASE_NAME:recessive_mitochondrial_ataxia_syndrome Recessive mitochondrial ataxia syndrome Supplemental_disease_name DISEASE_NAME:reclassified_adrb2_polymorphism RECLASSIFIED - ADRB2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:reclassified_ahsg_polymorphism RECLASSIFIED - AHSG POLYMORPHISM Supplemental_disease_name DISEASE_NAME:reclassified_myoc_polymorphism RECLASSIFIED - MYOC POLYMORPHISM Supplemental_disease_name DISEASE_NAME:reclassified_pdcd1_polymorphism RECLASSIFIED - PDCD1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:reclassified_pltp_polymorphism RECLASSIFIED - PLTP POLYMORPHISM Supplemental_disease_name DISEASE_NAME:reclassified_selp_polymorphism RECLASSIFIED - SELP POLYMORPHISM Supplemental_disease_name DISEASE_NAME:reclassified_variant_of_unknown_significance Reclassified - variant of unknown significance Supplemental_disease_name DISEASE_NAME:reclassified_vnn1_polymorphism RECLASSIFIED - VNN1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:recombinant_8_syndrome Recombinant 8 syndrome Supplemental_disease_name DISEASE_NAME:recombinase_activating_gene_2_deficiency_inborn_error_of_immunity Recombinase activating gene 2 deficiency;Inborn error of immunity Supplemental_disease_name DISEASE_NAME:recombinase_activating_gene_2_deficiency_inborn_error_of_immunity_atypical_severe_combined_immunodeficiency_due_to_complete_rag1_2_deficiency Recombinase activating gene 2 deficiency;Inborn error of immunity;Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Supplemental_disease_name DISEASE_NAME:recombinase_activating_gene_2_deficiency_inborn_error_of_immunity_histiocytic_medullary_reticulosis Recombinase activating gene 2 deficiency;Inborn error of immunity;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:recombination_rate_quantitative_trait_locus_1 RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:recon_progeroid_syndrome RECON progeroid syndrome Supplemental_disease_name DISEASE_NAME:recql4_related_disorder RECQL4-related disorder Supplemental_disease_name DISEASE_NAME:recql4_related_spectrum_disorders RECQL4-related spectrum disorders Supplemental_disease_name DISEASE_NAME:recql5_related_disorder RECQL5-related disorder Supplemental_disease_name DISEASE_NAME:recql_related_disorder RECQL-related disorder Supplemental_disease_name DISEASE_NAME:rectal_neoplasm Rectal neoplasm Supplemental_disease_name DISEASE_NAME:recurrent_encephalopathy_progressive_microcephaly Recurrent encephalopathy;Progressive microcephaly Supplemental_disease_name DISEASE_NAME:recurrent_fever Recurrent fever Supplemental_disease_name DISEASE_NAME:recurrent_fever_encephalitis_episodic_vomiting_myocarditis Recurrent fever;Encephalitis;Episodic vomiting;Myocarditis Supplemental_disease_name DISEASE_NAME:recurrent_fractures Recurrent fractures Supplemental_disease_name DISEASE_NAME:recurrent_hand_flapping Recurrent hand flapping Supplemental_disease_name DISEASE_NAME:recurrent_infections Recurrent infections Supplemental_disease_name DISEASE_NAME:recurrent_infections_associated_with_rare_immunoglobulin_isotypes_deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Supplemental_disease_name DISEASE_NAME:recurrent_infections_sepsis Recurrent infections;Sepsis Supplemental_disease_name DISEASE_NAME:recurrent_metabolic_encephalomyopathic_crises_rhabdomyolysis_cardiac_arrhythmia_intellectual_disability_syndrome Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:recurrent_neisseria_infections_due_to_factor_d_deficiency Recurrent Neisseria infections due to factor D deficiency Supplemental_disease_name DISEASE_NAME:recurrent_pancreatitis Recurrent pancreatitis Supplemental_disease_name DISEASE_NAME:recurrent_respiratory_infections_recurrent_infections_of_the_middle_ear Recurrent respiratory infections;Recurrent infections of the middle ear Supplemental_disease_name DISEASE_NAME:recurrent_skin_infections_immunodeficiency Recurrent skin infections;Immunodeficiency Supplemental_disease_name DISEASE_NAME:recurrent_spontaneous_abortion Recurrent spontaneous abortion Supplemental_disease_name DISEASE_NAME:recurrent_spontaneous_abortion_abnormal_chromosome_morphology Recurrent spontaneous abortion;Abnormal chromosome morphology Supplemental_disease_name DISEASE_NAME:recurrent_subcortical_infarcts Recurrent subcortical infarcts Supplemental_disease_name DISEASE_NAME:red_cone_polymorphism RED CONE POLYMORPHISM Supplemental_disease_name DISEASE_NAME:reduced_bone_mineral_density_joint_hypermobility Reduced bone mineral density;Joint hypermobility Supplemental_disease_name DISEASE_NAME:reduced_factor_ix_activity Reduced factor IX activity Supplemental_disease_name DISEASE_NAME:reduced_muscle_fiber_perlecan Reduced muscle fiber perlecan Supplemental_disease_name DISEASE_NAME:reduced_protein_c_activity Reduced protein C activity Supplemental_disease_name DISEASE_NAME:reduced_quantity_of_von_willebrand_factor_reduced_von_willebrand_factor_activity Reduced quantity of Von Willebrand factor;Reduced von Willebrand factor activity Supplemental_disease_name DISEASE_NAME:reduced_sperm_motility_abnormal_sperm_morphology Reduced sperm motility;Abnormal sperm morphology Supplemental_disease_name DISEASE_NAME:reduced_sperm_motility_dysplasia_of_the_mitochondrial_sheath_multiple_morphologic_abnormalities_of_the_sperm_flagellum Reduced sperm motility;dysplasia of the mitochondrial sheath;multiple morphologic abnormalities of the sperm flagellum Supplemental_disease_name DISEASE_NAME:reduced_visual_acuity_seizure_global_developmental_delay_microphthalmia Reduced visual acuity;Seizure;Global developmental delay;Microphthalmia Supplemental_disease_name DISEASE_NAME:reduced_von_willebrand_factor_activity Reduced von Willebrand factor activity Supplemental_disease_name DISEASE_NAME:reduced_von_willebrand_factor_activity_reduced_quantity_of_von_willebrand_factor Reduced von Willebrand factor activity;Reduced quantity of Von Willebrand factor Supplemental_disease_name DISEASE_NAME:reducing_body_myopathy Reducing body myopathy Supplemental_disease_name DISEASE_NAME:reep1_related_disorder REEP1-related disorder Supplemental_disease_name DISEASE_NAME:reep2_related_disorder REEP2-related disorder Supplemental_disease_name DISEASE_NAME:reep6_related_disorder REEP6-related disorder Supplemental_disease_name DISEASE_NAME:refractory_anemia_with_ringed_sideroblasts Refractory anemia with ringed sideroblasts Supplemental_disease_name DISEASE_NAME:refractory_epilepsy Refractory epilepsy Supplemental_disease_name DISEASE_NAME:refractory_epilepsy_with_lennox_gastaut_syndrome Refractory epilepsy with Lennox Gastaut syndrome Supplemental_disease_name DISEASE_NAME:refractory_myasthenia_gravis refractory myasthenia gravis Supplemental_disease_name DISEASE_NAME:refsum_disease_adult_1 REFSUM DISEASE, ADULT, 1 Supplemental_disease_name DISEASE_NAME:refsum_syndrome Refsum syndrome Supplemental_disease_name DISEASE_NAME:regional_enteritis Regional enteritis Supplemental_disease_name DISEASE_NAME:regional_enteritis_blau_syndrome Regional enteritis;Blau syndrome Supplemental_disease_name DISEASE_NAME:regorafenib_response Regorafenib response Supplemental_disease_name DISEASE_NAME:regression_of_motor_development_with_severe_dystonia_and_corresponding_basal_ganglia_lesions Regression of motor development with severe dystonia and corresponding basal ganglia lesions Supplemental_disease_name DISEASE_NAME:regressive_spondylometaphyseal_dysplasia Regressive spondylometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:regressive_spondylometaphyseal_dysplasia_greenberg_dysplasia_reynolds_syndrome_pelger_huët_anomaly Regressive spondylometaphyseal dysplasia;Greenberg dysplasia;Reynolds syndrome;Pelger-Huët anomaly Supplemental_disease_name DISEASE_NAME:regressive_spondylometaphyseal_dysplasia_pelger_huët_anomaly_reynolds_syndrome_greenberg_dysplasia Regressive spondylometaphyseal dysplasia;Pelger-Huët anomaly;Reynolds syndrome;Greenberg dysplasia Supplemental_disease_name DISEASE_NAME:regressive_spondylometaphyseal_dysplasia_reynolds_syndrome_pelger_huët_anomaly_greenberg_dysplasia Regressive spondylometaphyseal dysplasia;Reynolds syndrome;Pelger-Huët anomaly;Greenberg dysplasia Supplemental_disease_name DISEASE_NAME:rel_related_disorder REL-related disorder Supplemental_disease_name DISEASE_NAME:rela_related_disorder RELA-related disorder Supplemental_disease_name DISEASE_NAME:relative_macrocephaly_developmental_regression_severe_muscular_hypotonia Relative macrocephaly;Developmental regression;Severe muscular hypotonia Supplemental_disease_name DISEASE_NAME:relative_macrocephaly_intellectual_disability Relative macrocephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:relb_related_disorder RELB-related disorder Supplemental_disease_name DISEASE_NAME:reln_related_disorder RELN-related disorder Supplemental_disease_name DISEASE_NAME:relt_related_disorder RELT-related disorder Supplemental_disease_name DISEASE_NAME:ren_related_disorder REN-related disorder Supplemental_disease_name DISEASE_NAME:renal_agenesis_and_hypodysplasia Renal agenesis and hypodysplasia Supplemental_disease_name DISEASE_NAME:renal_agenesis_anhydramnios Renal agenesis;Anhydramnios Supplemental_disease_name DISEASE_NAME:renal_agenesis_anophthalmia Renal agenesis;Anophthalmia Supplemental_disease_name DISEASE_NAME:renal_calcium_oxalate_stone_disease Renal calcium oxalate stone disease Supplemental_disease_name DISEASE_NAME:renal_calcium_wasting_hypercalciuria Renal Calcium Wasting Hypercalciuria Supplemental_disease_name DISEASE_NAME:renal_cancer_carcinoma Renal cancer/carcinoma Supplemental_disease_name DISEASE_NAME:renal_cell_carcinoma_with_paraneoplastic_erythrocytosis RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS Supplemental_disease_name DISEASE_NAME:renal_cell_carcinoma_xp11_associated Renal cell carcinoma, Xp11-associated Supplemental_disease_name DISEASE_NAME:renal_chromophobe_cancer renal chromophobe cancer Supplemental_disease_name DISEASE_NAME:renal_coloboma_syndrome_focal_segmental_glomerulosclerosis_7 Renal coloboma syndrome;Focal segmental glomerulosclerosis 7 Supplemental_disease_name DISEASE_NAME:renal_cortical_hyperechogenicity Renal cortical hyperechogenicity Supplemental_disease_name DISEASE_NAME:renal_cyst_oligohydramnios_joubert_syndrome Renal cyst;Oligohydramnios;Joubert syndrome Supplemental_disease_name DISEASE_NAME:renal_cyst_pancreatic_cysts Renal cyst;Pancreatic cysts Supplemental_disease_name DISEASE_NAME:renal_cyst_polydactyly_anencephaly Renal cyst;Polydactyly;Anencephaly Supplemental_disease_name DISEASE_NAME:renal_cyst_proteinuria Renal cyst;Proteinuria Supplemental_disease_name DISEASE_NAME:renal_cysts_and_diabetes_syndrome_nonpapillary_renal_cell_carcinoma_type_2_diabetes_mellitus Renal cysts and diabetes syndrome;Nonpapillary renal cell carcinoma;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:renal_cysts_and_diabetes_syndrome_type_2_diabetes_mellitus Renal cysts and diabetes syndrome;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:renal_cysts_and_diabetes_syndrome_type_2_diabetes_mellitus_nonpapillary_renal_cell_carcinoma Renal cysts and diabetes syndrome;Type 2 diabetes mellitus;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:renal_dysplasia Renal dysplasia Supplemental_disease_name DISEASE_NAME:renal_dysplasia_and_retinal_aplasia Renal dysplasia and retinal aplasia Supplemental_disease_name DISEASE_NAME:renal_dysplasia_and_retinal_aplasia_nephronophthisis_15 Renal dysplasia and retinal aplasia;Nephronophthisis 15 Supplemental_disease_name DISEASE_NAME:renal_dysplasia_chronic_kidney_disease_renal_hypoplasia Renal dysplasia;Chronic kidney disease;Renal hypoplasia Supplemental_disease_name DISEASE_NAME:renal_dysplasia_cystic_susceptibility_to Renal dysplasia, cystic, susceptibility to Supplemental_disease_name DISEASE_NAME:renal_dysplasia_cystic_susceptibility_to_anhydramnios Renal dysplasia, cystic, susceptibility to;Anhydramnios Supplemental_disease_name DISEASE_NAME:renal_dysplasia_imperforate_anus Renal dysplasia;Imperforate anus Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_1 Renal-hepatic-pancreatic dysplasia 1 Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_1_nephronophthisis_3_nphp3_related_meckel_like_syndrome Renal-hepatic-pancreatic dysplasia 1;Nephronophthisis 3;NPHP3-related Meckel-like syndrome Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_1_nphp3_related_meckel_like_syndrome_nephronophthisis_3 Renal-hepatic-pancreatic dysplasia 1;NPHP3-related Meckel-like syndrome;Nephronophthisis 3 Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_1_nphp3_related_meckel_like_syndrome_nephronophthisis_3_renal_dysplasia_and_retinal_aplasia_joubert_syndrome Renal-hepatic-pancreatic dysplasia 1;NPHP3-related Meckel-like syndrome;Nephronophthisis 3;Renal dysplasia and retinal aplasia;Joubert syndrome Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_2 Renal-hepatic-pancreatic dysplasia 2 Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_2_nephronophthisis_9 Renal-hepatic-pancreatic dysplasia 2;Nephronophthisis 9 Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_2_nephronophthisis_9_polycystic_kidney_disease_8 Renal-hepatic-pancreatic dysplasia 2;Nephronophthisis 9;Polycystic kidney disease 8 Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_2_polycystic_kidney_disease_8_nephronophthisis_9 Renal-hepatic-pancreatic dysplasia 2;Polycystic kidney disease 8;Nephronophthisis 9 Supplemental_disease_name DISEASE_NAME:renal_hypodysplasia_aplasia Renal hypodysplasia/aplasia Supplemental_disease_name DISEASE_NAME:renal_hypodysplasia_aplasia_1 Renal hypodysplasia/aplasia 1 Supplemental_disease_name DISEASE_NAME:renal_hypodysplasia_aplasia_2 Renal hypodysplasia/aplasia 2 Supplemental_disease_name DISEASE_NAME:renal_hypodysplasia_aplasia_3 Renal hypodysplasia/aplasia 3 Supplemental_disease_name DISEASE_NAME:renal_hypodysplasia_aplasia_3_hearing_loss_autosomal_dominant_80 Renal hypodysplasia/aplasia 3;Hearing loss, autosomal dominant 80 Supplemental_disease_name DISEASE_NAME:renal_hypodysplasia_aplasia_3_mayer_rokitansky_kuster_hauser_syndrome Renal hypodysplasia/aplasia 3;Mayer-Rokitansky-Kuster-Hauser syndrome Supplemental_disease_name DISEASE_NAME:renal_hypodysplasia_aplasia_4 Renal hypodysplasia/aplasia 4 Supplemental_disease_name DISEASE_NAME:renal_hypomagnesemia_6_hypomagnesemia_seizures_and_intellectual_disability_1 Renal hypomagnesemia 6;Hypomagnesemia, seizures, and intellectual disability 1 Supplemental_disease_name DISEASE_NAME:renal_hypoplasia_aplasia Renal hypoplasia/aplasia Supplemental_disease_name DISEASE_NAME:renal_insufficiency_abnormal_heart_morphology_abnormal_cardiovascular_system_morphology Renal insufficiency;Abnormal heart morphology;Abnormal cardiovascular system morphology Supplemental_disease_name DISEASE_NAME:renal_insufficiency_cortical_dysplasia_renal_cortical_cysts Renal insufficiency;Cortical dysplasia;Renal cortical cysts Supplemental_disease_name DISEASE_NAME:renal_neoplasm Renal neoplasm Supplemental_disease_name DISEASE_NAME:renal_transitional_cell_carcinoma Renal transitional cell carcinoma Supplemental_disease_name DISEASE_NAME:renal_tubular_acidosis_distal_3_with_or_without_sensorineural_hearing_loss Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:renal_tubular_acidosis_distal_4_with_hemolytic_anemia Renal tubular acidosis, distal, 4, with hemolytic anemia Supplemental_disease_name DISEASE_NAME:renal_tubular_acidosis_distal_4_with_hemolytic_anemia_amelogenesis_imperfecta_hypomaturation_type_2a3 Renal tubular acidosis, distal, 4, with hemolytic anemia;Amelogenesis imperfecta hypomaturation type 2A3 Supplemental_disease_name DISEASE_NAME:renal_tubular_acidosis_distal_4_with_hemolytic_anemia_autosomal_dominant_distal_renal_tubular_acidosis Renal tubular acidosis, distal, 4, with hemolytic anemia;Autosomal dominant distal renal tubular acidosis Supplemental_disease_name DISEASE_NAME:renal_tubular_acidosis_distal_with_normal_red_cell_morphology Renal tubular acidosis, distal, with normal red cell morphology Supplemental_disease_name DISEASE_NAME:renal_tubular_acidosis_rickets_metabolic_acidosis Renal tubular acidosis;Rickets;Metabolic acidosis Supplemental_disease_name DISEASE_NAME:renal_tubular_acidosis_with_progressive_nerve_deafness Renal tubular acidosis with progressive nerve deafness Supplemental_disease_name DISEASE_NAME:renal_tubular_acidosis_with_progressive_nerve_deafness_autosomal_recessive_distal_renal_tubular_acidosis Renal tubular acidosis with progressive nerve deafness;Autosomal recessive distal renal tubular acidosis Supplemental_disease_name DISEASE_NAME:renal_tubular_dysgenesis Renal tubular dysgenesis Supplemental_disease_name DISEASE_NAME:renal_tubular_dysgenesis_essential_hypertension Renal tubular dysgenesis;Essential hypertension Supplemental_disease_name DISEASE_NAME:renal_tubular_dysgenesis_of_genetic_origin Renal tubular dysgenesis of genetic origin Supplemental_disease_name DISEASE_NAME:renal_tubular_dysgenesis_of_genetic_origin_essential_hypertension_genetic Renal tubular dysgenesis of genetic origin;Essential hypertension, genetic Supplemental_disease_name DISEASE_NAME:renal_tubular_dysgenesis_of_genetic_origin_familial_juvenile_hyperuricemic_nephropathy_type_2 Renal tubular dysgenesis of genetic origin;Familial juvenile hyperuricemic nephropathy type 2 Supplemental_disease_name DISEASE_NAME:renal_tubular_dysgenesis_of_genetic_origin_hemorrhage_intracerebral_susceptibility_to_microvascular_complications_of_diabetes_susceptibility_to_3 Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:renal_tubular_dysgenesis_of_genetic_origin_microvascular_complications_of_diabetes_susceptibility_to_3_hemorrhage_intracerebral_susceptibility_to Renal tubular dysgenesis of genetic origin;Microvascular complications of diabetes, susceptibility to, 3;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:renal_tubulopathies Renal tubulopathies Supplemental_disease_name DISEASE_NAME:renier_gabreels_jasper_syndrome Renier-Gabreels-Jasper syndrome Supplemental_disease_name DISEASE_NAME:renovascular_hypertension_hepatic_cysts_renal_cyst_hypertensive_disorder_pancreatic_cysts Renovascular hypertension;Hepatic cysts;Renal cyst;Hypertensive disorder;Pancreatic cysts Supplemental_disease_name DISEASE_NAME:repeat_number_of_microsatellite repeat number of microsatellite Supplemental_disease_name DISEASE_NAME:reps1_related_disorder REPS1-related disorder Supplemental_disease_name DISEASE_NAME:rere_related_disorder RERE-related disorder Supplemental_disease_name DISEASE_NAME:resistance_to_hepatitis_c_virus Resistance to hepatitis C virus Supplemental_disease_name DISEASE_NAME:resistance_to_plasmodium_vivax_infection Resistance to Plasmodium vivax infection Supplemental_disease_name DISEASE_NAME:resistance_to_thyroid_hormone_due_to_a_mutation_in_thyroid_hormone_receptor_beta Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Supplemental_disease_name DISEASE_NAME:resistance_to_thyroid_hormone_rth resistance to thyroid hormone (RTH) Supplemental_disease_name DISEASE_NAME:respiratory_ciliopathies_including_non_cf_bronchiectasis Respiratory ciliopathies including non-CF bronchiectasis Supplemental_disease_name DISEASE_NAME:respiratory_distress_associated_with_prematurity Respiratory distress associated with prematurity Supplemental_disease_name DISEASE_NAME:respiratory_infections Respiratory infections Supplemental_disease_name DISEASE_NAME:respiratory_infections_recurrent_and_failure_to_thrive_with_or_without_diarrhea Respiratory infections, recurrent, and failure to thrive with or without diarrhea Supplemental_disease_name DISEASE_NAME:respiratory_papillomatosis_juvenile_recurrent_congenital Respiratory papillomatosis, juvenile recurrent, congenital Supplemental_disease_name DISEASE_NAME:respiratory_papillomatosis_juvenile_recurrent_congenital_corneal_intraepithelial_dyskeratosis_palmoplantar_hyperkeratosis_laryngeal_dyskeratosis_syndrome_vitiligo_associated_multiple_autoimmune_disease_susceptibility_1_autoinflammation_with_arthritis_and_dyskeratosis Respiratory papillomatosis, juvenile recurrent, congenital;Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Vitiligo-associated multiple autoimmune disease susceptibility 1;Autoinflammation with arthritis and dyskeratosis Supplemental_disease_name DISEASE_NAME:response_to_aminobisphosphonates response to aminobisphosphonates Supplemental_disease_name DISEASE_NAME:rest_related_disorder REST-related disorder Supplemental_disease_name DISEASE_NAME:resting_heart_rate Resting heart rate Supplemental_disease_name DISEASE_NAME:resting_tremor_cogwheel_rigidity_parkinsonian_disorder Resting tremor;Cogwheel rigidity;Parkinsonian disorder Supplemental_disease_name DISEASE_NAME:resting_tremor_parkinsonian_disorder_movement_disorder_thoracolumbar_scoliosis_hypomimic_face Resting tremor;Parkinsonian disorder;Movement disorder;Thoracolumbar scoliosis;Hypomimic face Supplemental_disease_name DISEASE_NAME:restrictive_cardiomyopathy_hypertrophic_cardiomyopathy Restrictive cardiomyopathy;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:restrictive_dermopathy_1_mandibuloacral_dysplasia_with_type_b_lipodystrophy Restrictive dermopathy 1;Mandibuloacral dysplasia with type B lipodystrophy Supplemental_disease_name DISEASE_NAME:ret_related_disorder RET-related disorder Supplemental_disease_name DISEASE_NAME:reticulate_acropigmentation_of_kitamura_alzheimer_disease_18 Reticulate acropigmentation of Kitamura;Alzheimer disease 18 Supplemental_disease_name DISEASE_NAME:retinal_arterial_macroaneurysm_with_supravascular_pulmonic_stenosis Retinal arterial macroaneurysm with supravascular pulmonic stenosis Supplemental_disease_name DISEASE_NAME:retinal_arterial_tortuosity_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_hemorrhage_intracerebral_susceptibility_to Retinal arterial tortuosity;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:retinal_arterial_tortuosity_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Supplemental_disease_name DISEASE_NAME:retinal_arterial_tortuosity_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies_hemorrhage_intracerebral_susceptibility_to Retinal arterial tortuosity;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to Supplemental_disease_name DISEASE_NAME:retinal_arterial_tortuosity_microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant_hemorrhage_intracerebral_susceptibility_to_autosomal_dominant_familial_hematuria_retinal_arteriolar_tortuosity_contractures_syndrome_brain_small_vessel_disease_1_with_or_without_ocular_anomalies Retinal arterial tortuosity;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Brain small vessel disease 1 with or without ocular anomalies Supplemental_disease_name DISEASE_NAME:retinal_arteries Retinal arteries Supplemental_disease_name DISEASE_NAME:retinal_capillary_hemangioma Retinal capillary hemangioma Supplemental_disease_name DISEASE_NAME:retinal_ciliopathy_due_to_mutation_in_the_retinitis_pigmentosa_1_gene Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Supplemental_disease_name DISEASE_NAME:retinal_degeneration_abnormal_electroretinogram_abnormality_of_vision_congenital_blindness Retinal degeneration;Abnormal electroretinogram;Abnormality of vision;Congenital blindness Supplemental_disease_name DISEASE_NAME:retinal_degeneration_retinal_dystrophy Retinal degeneration;Retinal dystrophy Supplemental_disease_name DISEASE_NAME:retinal_detachment_lattice_retinal_degeneration Retinal detachment;Lattice retinal degeneration Supplemental_disease_name DISEASE_NAME:retinal_disorder Retinal disorder Supplemental_disease_name DISEASE_NAME:retinal_disorder_cleft_palate Retinal disorder;Cleft palate Supplemental_disease_name DISEASE_NAME:retinal_disorder_cleft_palate_global_developmental_delay Retinal disorder;Cleft palate;Global developmental delay Supplemental_disease_name DISEASE_NAME:retinal_disorder_visual_impairment Retinal disorder;Visual impairment Supplemental_disease_name DISEASE_NAME:retinal_dysplasia_microcephaly_lymphedema Retinal dysplasia;Microcephaly;Lymphedema Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_and_microvillus_inclusion_disease Retinal dystrophy and microvillus inclusion disease Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_and_obesity Retinal dystrophy and obesity Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_ataxia_pituitary_hormone_abnormality_hypogonadism_syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_early_onset_severe Retinal dystrophy, early-onset severe Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_early_onset_severe_lrat_related RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_horizontal_nystagmus_color_vision_defect_visual_impairment Retinal dystrophy;Horizontal nystagmus;Color vision defect;Visual impairment Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_joubert_syndrome_and_related_disorders Retinal dystrophy;Joubert syndrome and related disorders Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_optic_nerve_edema_splenomegaly_anhidrosis_and_migraine_headache_syndrome Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_visual_impairment_horizontal_nystagmus_color_vision_defect Retinal dystrophy;Visual impairment;Horizontal nystagmus;Color vision defect Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_with_extraocular_anomalies RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_anomalies Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_with_or_without_macular_staphyloma Retinal dystrophy with or without macular staphyloma Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_with_or_without_macular_staphyloma_axial_spondylometaphyseal_dysplasia Retinal dystrophy with or without macular staphyloma;Axial spondylometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:retinal_dystrophy_zeitz_han_type RETINAL DYSTROPHY, ZEITZ-HAN TYPE Supplemental_disease_name DISEASE_NAME:retinal_macular_dystrophy_type_2 Retinal macular dystrophy type 2 Supplemental_disease_name DISEASE_NAME:retinal_macular_dystrophy_type_2_cone_rod_dystrophy_12_retinitis_pigmentosa_41_stargardt_disease_4 Retinal macular dystrophy type 2;Cone-rod dystrophy 12;Retinitis pigmentosa 41;Stargardt disease 4 Supplemental_disease_name DISEASE_NAME:retinal_macular_dystrophy_type_2_cone_rod_dystrophy_12_stargardt_disease_4_retinitis_pigmentosa_41 Retinal macular dystrophy type 2;Cone-rod dystrophy 12;Stargardt disease 4;Retinitis pigmentosa 41 Supplemental_disease_name DISEASE_NAME:retinal_macular_dystrophy_type_2_retinitis_pigmentosa_41 Retinal macular dystrophy type 2;Retinitis pigmentosa 41 Supplemental_disease_name DISEASE_NAME:retinal_macular_dystrophy_type_2_retinitis_pigmentosa_41_cone_rod_dystrophy_12_stargardt_disease_4 Retinal macular dystrophy type 2;Retinitis pigmentosa 41;Cone-rod dystrophy 12;Stargardt disease 4 Supplemental_disease_name DISEASE_NAME:retinal_macular_dystrophy_type_2_retinitis_pigmentosa_41_stargardt_disease_4_cone_rod_dystrophy_12 Retinal macular dystrophy type 2;Retinitis pigmentosa 41;Stargardt disease 4;Cone-rod dystrophy 12 Supplemental_disease_name DISEASE_NAME:retinal_macular_dystrophy_type_2_stargardt_disease_4_cone_rod_dystrophy_12_retinitis_pigmentosa_41 Retinal macular dystrophy type 2;Stargardt disease 4;Cone-rod dystrophy 12;Retinitis pigmentosa 41 Supplemental_disease_name DISEASE_NAME:retinal_macular_dystrophy_type_2_stargardt_disease_4_retinitis_pigmentosa_41_cone_rod_dystrophy_12 Retinal macular dystrophy type 2;Stargardt disease 4;Retinitis pigmentosa 41;Cone-rod dystrophy 12 Supplemental_disease_name DISEASE_NAME:retinal_pigment_epithelial_atrophy_cone_dystrophy Retinal pigment epithelial atrophy;Cone dystrophy Supplemental_disease_name DISEASE_NAME:retinal_vascular_dystrophy Retinal vascular dystrophy Supplemental_disease_name DISEASE_NAME:retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_aicardi_goutieres_syndrome_1 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Aicardi-Goutieres syndrome 1 Supplemental_disease_name DISEASE_NAME:retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_aicardi_goutieres_syndrome_1_chilblain_lupus_1 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Aicardi-Goutieres syndrome 1;Chilblain lupus 1 Supplemental_disease_name DISEASE_NAME:retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_aicardi_goutieres_syndrome_1_chilblain_lupus_1_systemic_lupus_erythematosus Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Aicardi-Goutieres syndrome 1;Chilblain lupus 1;Systemic lupus erythematosus Supplemental_disease_name DISEASE_NAME:retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_chilblain_lupus_1_aicardi_goutieres_syndrome_1 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Chilblain lupus 1;Aicardi-Goutieres syndrome 1 Supplemental_disease_name DISEASE_NAME:retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations_chilblain_lupus_1_systemic_lupus_erythematosus_aicardi_goutieres_syndrome_1 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations;Chilblain lupus 1;Systemic lupus erythematosus;Aicardi-Goutieres syndrome 1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_108 RETINITIS PIGMENTOSA 108 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_10_leber_congenital_amaurosis_11 Retinitis pigmentosa 10;Leber congenital amaurosis 11 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_12_leber_congenital_amaurosis_8 Retinitis pigmentosa 12;Leber congenital amaurosis 8 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_12_leber_congenital_amaurosis_8_pigmented_paravenous_retinochoroidal_atrophy Retinitis pigmentosa 12;Leber congenital amaurosis 8;Pigmented paravenous retinochoroidal atrophy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_12_pigmented_paravenous_retinochoroidal_atrophy_leber_congenital_amaurosis_8 Retinitis pigmentosa 12;Pigmented paravenous retinochoroidal atrophy;Leber congenital amaurosis 8 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_14_leber_congenital_amaurosis_15 Retinitis pigmentosa 14;Leber congenital amaurosis 15 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_19_age_related_macular_degeneration_2_cone_rod_dystrophy_3_severe_early_childhood_onset_retinal_dystrophy Retinitis pigmentosa 19;Age related macular degeneration 2;Cone-rod dystrophy 3;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_19_age_related_macular_degeneration_2_severe_early_childhood_onset_retinal_dystrophy_cone_rod_dystrophy_3 Retinitis pigmentosa 19;Age related macular degeneration 2;Severe early-childhood-onset retinal dystrophy;Cone-rod dystrophy 3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_19_cone_rod_dystrophy_3 Retinitis pigmentosa 19;Cone-rod dystrophy 3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_19_cone_rod_dystrophy_3_age_related_macular_degeneration Retinitis pigmentosa 19;Cone-rod dystrophy 3;Age-related macular degeneration Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_19_cone_rod_dystrophy_3_age_related_macular_degeneration_2_severe_early_childhood_onset_retinal_dystrophy Retinitis pigmentosa 19;Cone-rod dystrophy 3;Age related macular degeneration 2;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_19_cone_rod_dystrophy_3_severe_early_childhood_onset_retinal_dystrophy Retinitis pigmentosa 19;Cone-rod dystrophy 3;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_19_cone_rod_dystrophy_3_severe_early_childhood_onset_retinal_dystrophy_age_related_macular_degeneration_2 Retinitis pigmentosa 19;Cone-rod dystrophy 3;Severe early-childhood-onset retinal dystrophy;Age related macular degeneration 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_19_severe_early_childhood_onset_retinal_dystrophy Retinitis pigmentosa 19;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_19_severe_early_childhood_onset_retinal_dystrophy_cone_rod_dystrophy_3_age_related_macular_degeneration_2 Retinitis pigmentosa 19;Severe early-childhood-onset retinal dystrophy;Cone-rod dystrophy 3;Age related macular degeneration 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_20_leber_congenital_amaurosis_2 Retinitis pigmentosa 20;Leber congenital amaurosis 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_20_leber_congenital_amaurosis_2_retinitis_pigmentosa_87_with_choroidal_involvement Retinitis pigmentosa 20;Leber congenital amaurosis 2;Retinitis pigmentosa 87 with choroidal involvement Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_20_retinitis_pigmentosa_87_with_choroidal_involvement_leber_congenital_amaurosis_2 Retinitis pigmentosa 20;Retinitis pigmentosa 87 with choroidal involvement;Leber congenital amaurosis 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_23_joubert_syndrome_10_orofaciodigital_syndrome_i_simpson_golabi_behmel_syndrome_type_2 Retinitis pigmentosa 23;Joubert syndrome 10;Orofaciodigital syndrome I;Simpson-Golabi-Behmel syndrome type 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_23_simpson_golabi_behmel_syndrome_type_2_joubert_syndrome_10_orofaciodigital_syndrome_i Retinitis pigmentosa 23;Simpson-Golabi-Behmel syndrome type 2;Joubert syndrome 10;Orofaciodigital syndrome I Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_23_simpson_golabi_behmel_syndrome_type_2_orofaciodigital_syndrome_i_joubert_syndrome_10 Retinitis pigmentosa 23;Simpson-Golabi-Behmel syndrome type 2;Orofaciodigital syndrome I;Joubert syndrome 10 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_35_cone_rod_dystrophy_10 Retinitis pigmentosa 35;Cone-rod dystrophy 10 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_37_enhanced_s_cone_syndrome Retinitis pigmentosa 37;Enhanced S-cone syndrome Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_37_enhanced_s_cone_syndrome_1 Retinitis pigmentosa 37;ENHANCED S-CONE SYNDROME 1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_39_usher_syndrome_type_2a Retinitis pigmentosa 39;Usher syndrome type 2A Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_3_retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness_macular_degeneration_x_linked_atrophic_x_linked_cone_rod_dystrophy_1 Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness;Macular degeneration, X-linked atrophic;X-linked cone-rod dystrophy 1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_3_retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness_x_linked_cone_rod_dystrophy_1_macular_degeneration_x_linked_atrophic Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness;X-linked cone-rod dystrophy 1;Macular degeneration, X-linked atrophic Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_3_x_linked_cone_rod_dystrophy_1 Retinitis pigmentosa 3;X-linked cone-rod dystrophy 1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_40_congenital_stationary_night_blindness_autosomal_dominant_2 Retinitis pigmentosa 40;Congenital stationary night blindness autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_41_retinal_macular_dystrophy_type_2_cone_rod_dystrophy_12 Retinitis pigmentosa 41;Retinal macular dystrophy type 2;Cone-rod dystrophy 12 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_41_retinal_macular_dystrophy_type_2_cone_rod_dystrophy_12_stargardt_disease_4 Retinitis pigmentosa 41;Retinal macular dystrophy type 2;Cone-rod dystrophy 12;Stargardt disease 4 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_42_perching_syndrome Retinitis pigmentosa 42;PERCHING syndrome Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_47_oguchi_disease_1 Retinitis pigmentosa 47;Oguchi disease-1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_47_oguchi_disease_1_retinitis_pigmentosa_96 Retinitis pigmentosa 47;Oguchi disease-1;Retinitis pigmentosa 96 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_47_retinitis_pigmentosa_96_oguchi_disease_1 Retinitis pigmentosa 47;Retinitis pigmentosa 96;Oguchi disease-1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_49_retinitis_pigmentosa Retinitis pigmentosa 49;Retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_4_autosomal_recessive Retinitis pigmentosa 4, autosomal recessive Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_4_congenital_stationary_night_blindness_autosomal_dominant_1 Retinitis pigmentosa 4;Congenital stationary night blindness autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_50_autosomal_recessive_bestrophinopathy_autosomal_dominant_vitreoretinochoroidopathy_vitelliform_macular_dystrophy_2 Retinitis pigmentosa 50;Autosomal recessive bestrophinopathy;Autosomal dominant vitreoretinochoroidopathy;Vitelliform macular dystrophy 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_50_vitelliform_macular_dystrophy_2_autosomal_dominant_vitreoretinochoroidopathy_autosomal_recessive_bestrophinopathy Retinitis pigmentosa 50;Vitelliform macular dystrophy 2;Autosomal dominant vitreoretinochoroidopathy;Autosomal recessive bestrophinopathy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_51_bardet_biedl_syndrome_8 Retinitis pigmentosa 51;Bardet-Biedl syndrome 8 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_53 Retinitis pigmentosa 53 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_55_bardet_biedl_syndrome_1_bardet_biedl_syndrome_3 Retinitis pigmentosa 55;Bardet-Biedl syndrome 1;Bardet-Biedl syndrome 3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_55_bardet_biedl_syndrome_3 Retinitis pigmentosa 55;Bardet-Biedl syndrome 3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_55_bardet_biedl_syndrome_3_bardet_biedl_syndrome_1 Retinitis pigmentosa 55;Bardet-Biedl syndrome 3;Bardet-Biedl syndrome 1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_56_vitelliform_macular_dystrophy_5 Retinitis pigmentosa 56;Vitelliform macular dystrophy 5 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_59_developmental_delay_and_seizures_with_or_without_movement_abnormalities Retinitis pigmentosa 59;Developmental delay and seizures with or without movement abnormalities Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_61_usher_syndrome_type_3a Retinitis pigmentosa 61;Usher syndrome type 3A Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_61_usher_syndrome_type_3a_retinitis_pigmentosa Retinitis pigmentosa 61;Usher syndrome type 3A;Retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_64 Retinitis pigmentosa 64 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_65 Retinitis pigmentosa 65 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_66_retinitis_pigmentosa Retinitis pigmentosa 66;Retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_71_asphyxiating_thoracic_dystrophy_1 Retinitis pigmentosa 71;Asphyxiating thoracic dystrophy 1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_71_bardet_biedl_syndrome_20_short_rib_thoracic_dysplasia_10_with_or_without_polydactyly Retinitis pigmentosa 71;Bardet-Biedl syndrome 20;Short-rib thoracic dysplasia 10 with or without polydactyly Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_71_short_rib_thoracic_dysplasia_10_with_or_without_polydactyly Retinitis pigmentosa 71;Short-rib thoracic dysplasia 10 with or without polydactyly Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_71_short_rib_thoracic_dysplasia_10_with_or_without_polydactyly_bardet_biedl_syndrome_20 Retinitis pigmentosa 71;Short-rib thoracic dysplasia 10 with or without polydactyly;Bardet-Biedl syndrome 20 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_72_exudative_vitreoretinopathy_6 Retinitis pigmentosa 72;Exudative vitreoretinopathy 6 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_73_mucopolysaccharidosis_mps_iii_c Retinitis pigmentosa 73;Mucopolysaccharidosis, MPS-III-C Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_74_bardet_biedl_syndrome_2 Retinitis pigmentosa 74;Bardet-Biedl syndrome 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_76_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_muscle_eye_brain_disease Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscle eye brain disease Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_76_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3 Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3 Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_76_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b3_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2o_muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a3 Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_79_charcot_marie_tooth_disease_type_4g_hemolytic_anemia_due_to_hexokinase_deficiency Retinitis pigmentosa 79;Charcot-Marie-Tooth disease type 4G;Hemolytic anemia due to hexokinase deficiency Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_79_hemolytic_anemia_due_to_hexokinase_deficiency_neurodevelopmental_disorder_with_visual_defects_and_brain_anomalies_charcot_marie_tooth_disease_type_4g Retinitis pigmentosa 79;Hemolytic anemia due to hexokinase deficiency;Neurodevelopmental disorder with visual defects and brain anomalies;Charcot-Marie-Tooth disease type 4G Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_7_digenic Retinitis pigmentosa 7, digenic Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_7_patterned_macular_dystrophy_1_choroidal_dystrophy_central_areolar_2_pigmentary_retinal_dystrophy_vitelliform_macular_dystrophy_3 Retinitis pigmentosa 7;Patterned macular dystrophy 1;Choroidal dystrophy, central areolar 2;Pigmentary retinal dystrophy;Vitelliform macular dystrophy 3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_7_pigmentary_retinal_dystrophy Retinitis pigmentosa 7;Pigmentary retinal dystrophy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_7_pigmentary_retinal_dystrophy_choroidal_dystrophy_central_areolar_2_vitelliform_macular_dystrophy_3_patterned_macular_dystrophy_1 Retinitis pigmentosa 7;Pigmentary retinal dystrophy;Choroidal dystrophy, central areolar 2;Vitelliform macular dystrophy 3;Patterned macular dystrophy 1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_7_pigmentary_retinal_dystrophy_patterned_macular_dystrophy_1_choroidal_dystrophy_central_areolar_2_vitelliform_macular_dystrophy_3 Retinitis pigmentosa 7;Pigmentary retinal dystrophy;Patterned macular dystrophy 1;Choroidal dystrophy, central areolar 2;Vitelliform macular dystrophy 3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_7_pigmentary_retinal_dystrophy_patterned_macular_dystrophy_1_vitelliform_macular_dystrophy_3_choroidal_dystrophy_central_areolar_2 Retinitis pigmentosa 7;Pigmentary retinal dystrophy;Patterned macular dystrophy 1;Vitelliform macular dystrophy 3;Choroidal dystrophy, central areolar 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_80_saldino_mainzer_syndrome Retinitis pigmentosa 80;Saldino-Mainzer syndrome Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_81_cranioectodermal_dysplasia_3_short_rib_thoracic_dysplasia_18_with_polydactyly Retinitis pigmentosa 81;Cranioectodermal dysplasia 3;Short-rib thoracic dysplasia 18 with polydactyly Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_81_short_rib_thoracic_dysplasia_18_with_polydactyly_cranioectodermal_dysplasia_3 Retinitis pigmentosa 81;Short-rib thoracic dysplasia 18 with polydactyly;Cranioectodermal dysplasia 3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_87_with_choroidal_involvement_leber_congenital_amaurosis_2_retinitis_pigmentosa_20 Retinitis pigmentosa 87 with choroidal involvement;Leber congenital amaurosis 2;Retinitis pigmentosa 20 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_87_with_choroidal_involvement_retinitis_pigmentosa_20_leber_congenital_amaurosis_2 Retinitis pigmentosa 87 with choroidal involvement;Retinitis pigmentosa 20;Leber congenital amaurosis 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_88_occult_macular_dystrophy Retinitis pigmentosa 88;Occult macular dystrophy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_93_coach_syndrome_2_joubert_syndrome_9_meckel_syndrome_type_6 Retinitis pigmentosa 93;COACH syndrome 2;Joubert syndrome 9;Meckel syndrome, type 6 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_93_coach_syndrome_2_meckel_syndrome_type_6_joubert_syndrome_9 Retinitis pigmentosa 93;COACH syndrome 2;Meckel syndrome, type 6;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_93_joubert_syndrome_9_coach_syndrome_2_meckel_syndrome_type_6 Retinitis pigmentosa 93;Joubert syndrome 9;COACH syndrome 2;Meckel syndrome, type 6 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_93_meckel_syndrome_type_6_coach_syndrome_2_joubert_syndrome_9 Retinitis pigmentosa 93;Meckel syndrome, type 6;COACH syndrome 2;Joubert syndrome 9 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_93_meckel_syndrome_type_6_joubert_syndrome_9_coach_syndrome_2 Retinitis pigmentosa 93;Meckel syndrome, type 6;Joubert syndrome 9;COACH syndrome 2 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_94_variable_age_at_onset Retinitis pigmentosa 94, variable age at onset Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_and_erythrocytic_microcytosis Retinitis pigmentosa and erythrocytic microcytosis Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_and_erythrocytic_microcytosis_congenital_sideroblastic_anemia_b_cell_immunodeficiency_periodic_fever_developmental_delay_syndrome Retinitis pigmentosa and erythrocytic microcytosis;Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_asphyxiating_thoracic_dystrophy_4 Retinitis pigmentosa;Asphyxiating thoracic dystrophy 4 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_bardet_biedl_syndrome_1_retinitis_pigmentosa_55_bardet_biedl_syndrome_3 Retinitis pigmentosa;Bardet-Biedl syndrome 1;Retinitis pigmentosa 55;Bardet-Biedl syndrome 3 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_hearing_loss_premature_aging_short_stature_facial_dysmorphism_syndrome Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_hereditary_sensory_and_autonomic_neuropathy Retinitis pigmentosa;Hereditary sensory and autonomic neuropathy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_in_ciliopathies_modifier_of Retinitis pigmentosa in ciliopathies, modifier of Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_juvenile Retinitis pigmentosa, juvenile Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_juvenile_cataract_short_stature_intellectual_disability_syndrome Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_juvenile_lrat_related RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_leber_congenital_amaurosis_14 Retinitis pigmentosa;Leber congenital amaurosis 14 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_leber_congenital_amaurosis_4 Retinitis pigmentosa;Leber congenital amaurosis 4 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_premature_loss_of_teeth_wagner_disease_congenital_heart_disease Retinitis pigmentosa;Premature loss of teeth;Wagner disease;Congenital heart disease Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_recessive Retinitis Pigmentosa, Recessive Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_retinitis_pigmentosa_49 Retinitis pigmentosa;Retinitis pigmentosa 49 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_retinitis_pigmentosa_61_usher_syndrome_type_3a Retinitis pigmentosa;Retinitis pigmentosa 61;Usher syndrome type 3A Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_retinitis_pigmentosa_66 Retinitis pigmentosa;Retinitis pigmentosa 66 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_saldino_mainzer_syndrome Retinitis pigmentosa;Saldino-Mainzer syndrome Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_sine_pigmento_with_macular_involvement Retinitis pigmentosa sine pigmento with macular involvement Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_sinorespiratory_infections_and_deafness RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_with_macular_involvement Retinitis pigmentosa with macular involvement Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_with_or_without_extraocular_features Retinitis pigmentosa with or without extraocular features Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness_macular_degeneration_x_linked_atrophic_retinitis_pigmentosa_3_x_linked_cone_rod_dystrophy_1 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness;Macular degeneration, X-linked atrophic;Retinitis pigmentosa 3;X-linked cone-rod dystrophy 1 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness_macular_degeneration_x_linked_atrophic_x_linked_cone_rod_dystrophy_1_retinitis_pigmentosa_3 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness;Macular degeneration, X-linked atrophic;X-linked cone-rod dystrophy 1;Retinitis pigmentosa 3 Supplemental_disease_name DISEASE_NAME:retinitis_punctata_albescens_autosomal_dominant Retinitis punctata albescens, autosomal dominant Supplemental_disease_name DISEASE_NAME:retinitis_punctata_albescens_bothnia_retinal_dystrophy Retinitis punctata albescens;Bothnia retinal dystrophy Supplemental_disease_name DISEASE_NAME:retinoblastoma_bone_osteosarcoma_malignant_tumor_of_urinary_bladder_small_cell_lung_carcinoma Retinoblastoma;Bone osteosarcoma;Malignant tumor of urinary bladder;Small cell lung carcinoma Supplemental_disease_name DISEASE_NAME:retinoblastoma_malignant_tumor_of_urinary_bladder_bone_osteosarcoma_small_cell_lung_carcinoma Retinoblastoma;Malignant tumor of urinary bladder;Bone osteosarcoma;Small cell lung carcinoma Supplemental_disease_name DISEASE_NAME:retinoblastoma_small_cell_lung_carcinoma_bone_osteosarcoma_malignant_tumor_of_urinary_bladder Retinoblastoma;Small cell lung carcinoma;Bone osteosarcoma;Malignant tumor of urinary bladder Supplemental_disease_name DISEASE_NAME:retn_related_disorder RETN-related disorder Supplemental_disease_name DISEASE_NAME:retreg1_related_disorder RETREG1-related disorder Supplemental_disease_name DISEASE_NAME:rett_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly_syndromic_x_linked_intellectual_disability_lubs_type_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:rett_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly_syndromic_x_linked_intellectual_disability_lubs_type_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_autism_susceptibility_to_x_linked_3 Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome;Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:rett_syndrome_syndromic_x_linked_intellectual_disability_lubs_type_autism_susceptibility_to_x_linked_3_severe_neonatal_onset_encephalopathy_with_microcephaly_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Rett syndrome;Syndromic X-linked intellectual disability Lubs type;Autism, susceptibility to, X-linked 3;Severe neonatal-onset encephalopathy with microcephaly;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:rett_syndrome_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Rett syndrome;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:rett_syndrome_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_autism_susceptibility_to_x_linked_3_syndromic_x_linked_intellectual_disability_lubs_type_severe_neonatal_onset_encephalopathy_with_microcephaly Rett syndrome;X-linked intellectual disability-psychosis-macroorchidism syndrome;Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;Severe neonatal-onset encephalopathy with microcephaly Supplemental_disease_name DISEASE_NAME:rett_syndrome_zappella_variant Rett syndrome, zappella variant Supplemental_disease_name DISEASE_NAME:rev3l_related_disorder REV3L-related disorder Supplemental_disease_name DISEASE_NAME:reversed_sotos_syndrome Reversed Sotos syndrome Supplemental_disease_name DISEASE_NAME:revesz_syndrome_dyskeratosis_congenita_autosomal_dominant_1_dyskeratosis_congenita_autosomal_dominant_3 Revesz syndrome;Dyskeratosis congenita, autosomal dominant 1;Dyskeratosis congenita, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:revesz_syndrome_dyskeratosis_congenita_autosomal_dominant_3 Revesz syndrome;Dyskeratosis congenita, autosomal dominant 3 Supplemental_disease_name DISEASE_NAME:reynolds_syndrome Reynolds syndrome Supplemental_disease_name DISEASE_NAME:reynolds_syndrome_pelger_huët_anomaly_greenberg_dysplasia_regressive_spondylometaphyseal_dysplasia Reynolds syndrome;Pelger-Huët anomaly;Greenberg dysplasia;Regressive spondylometaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:rfc1_related_disorder RFC1-related disorder Supplemental_disease_name DISEASE_NAME:rft1_congenital_disorder_of_glycosylation RFT1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:rft1_related_cdg RFT1 related CDG Supplemental_disease_name DISEASE_NAME:rft1_related_disorder RFT1-related disorder Supplemental_disease_name DISEASE_NAME:rfwd3_related_disorder RFWD3-related disorder Supplemental_disease_name DISEASE_NAME:rfx2_related_disorder RFX2-related disorder Supplemental_disease_name DISEASE_NAME:rfx3_associated_neurodevelopmental_disorder RFX3-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rfx3_related_disorder RFX3-related disorder Supplemental_disease_name DISEASE_NAME:rfx3_related_intellectual_disability RFX3-related intellectual disability Supplemental_disease_name DISEASE_NAME:rfx3_related_neurodevelopmental_disorder_with_autism_and_other_behavioural_abnormalities RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities Supplemental_disease_name DISEASE_NAME:rfx4_related_disorder RFX4-related disorder Supplemental_disease_name DISEASE_NAME:rfx5_related_disorder RFX5-related disorder Supplemental_disease_name DISEASE_NAME:rfx6_related_disorder RFX6-related disorder Supplemental_disease_name DISEASE_NAME:rfx7_related_disorder RFX7-related disorder Supplemental_disease_name DISEASE_NAME:rfxank_related_disorder RFXANK-related disorder Supplemental_disease_name DISEASE_NAME:rfxap_related_disorder RFXAP-related disorder Supplemental_disease_name DISEASE_NAME:rgr_related_disorder RGR-related disorder Supplemental_disease_name DISEASE_NAME:rgs2_related_disorder RGS2-related disorder Supplemental_disease_name DISEASE_NAME:rgs9_related_disorder RGS9-related disorder Supplemental_disease_name DISEASE_NAME:rgs9bp_related_disorder RGS9BP-related disorder Supplemental_disease_name DISEASE_NAME:rh_e_e_polymorphism RH E/e POLYMORPHISM Supplemental_disease_name DISEASE_NAME:rh_mod_blood_group_phenotype Rh mod blood group phenotype Supplemental_disease_name DISEASE_NAME:rh_null_amorph_type RH-NULL, AMORPH TYPE Supplemental_disease_name DISEASE_NAME:rh_null_regulator_type Rh-null, regulator type Supplemental_disease_name DISEASE_NAME:rh_null_regulator_type_overhydrated_hereditary_stomatocytosis Rh-null, regulator type;Overhydrated hereditary stomatocytosis Supplemental_disease_name DISEASE_NAME:rhabdoid_tumor_predisposition_syndrome_1_intellectual_disability_autosomal_dominant_15_smarcb1_related_schwannomatosis Rhabdoid tumor predisposition syndrome 1;Intellectual disability, autosomal dominant 15;SMARCB1-related schwannomatosis Supplemental_disease_name DISEASE_NAME:rhabdoid_tumor_predisposition_syndrome_1_smarcb1_related_schwannomatosis_intellectual_disability_autosomal_dominant_15 Rhabdoid tumor predisposition syndrome 1;SMARCB1-related schwannomatosis;Intellectual disability, autosomal dominant 15 Supplemental_disease_name DISEASE_NAME:rhabdoid_tumor_predisposition_syndrome_2_intellectual_disability_autosomal_dominant_16 Rhabdoid tumor predisposition syndrome 2;Intellectual disability, autosomal dominant 16 Supplemental_disease_name DISEASE_NAME:rhabdoid_tumor_predisposition_syndrome_2_intellectual_disability_autosomal_dominant_16_otosclerosis_12 Rhabdoid tumor predisposition syndrome 2;Intellectual disability, autosomal dominant 16;Otosclerosis 12 Supplemental_disease_name DISEASE_NAME:rhabdoid_tumor_predisposition_syndrome_2_otosclerosis_12_intellectual_disability_autosomal_dominant_16 Rhabdoid tumor predisposition syndrome 2;Otosclerosis 12;Intellectual disability, autosomal dominant 16 Supplemental_disease_name DISEASE_NAME:rhabdomyolysis Rhabdomyolysis Supplemental_disease_name DISEASE_NAME:rhabdomyolysis_myopathy Rhabdomyolysis;Myopathy Supplemental_disease_name DISEASE_NAME:rhabdomyolysis_susceptibility_to_1 Rhabdomyolysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:rhabdomyolysis_susceptibility_to_2 Rhabdomyolysis, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:rhabdomyoma Rhabdomyoma Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2 Rhabdomyosarcoma, embryonal, 2 Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2_dicer1_related_tumor_predisposition_euthyroid_goiter Rhabdomyosarcoma, embryonal, 2;DICER1-related tumor predisposition;Euthyroid goiter Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2_euthyroid_goiter_dicer1_related_tumor_predisposition Rhabdomyosarcoma, embryonal, 2;Euthyroid goiter;DICER1-related tumor predisposition Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2_euthyroid_goiter_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_pleuropulmonary_blastoma Rhabdomyosarcoma, embryonal, 2;Euthyroid goiter;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Pleuropulmonary blastoma Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2_euthyroid_goiter_pleuropulmonary_blastoma_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome Rhabdomyosarcoma, embryonal, 2;Euthyroid goiter;Pleuropulmonary blastoma;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_euthyroid_goiter_pleuropulmonary_blastoma Rhabdomyosarcoma, embryonal, 2;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Euthyroid goiter;Pleuropulmonary blastoma Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_pleuropulmonary_blastoma_euthyroid_goiter Rhabdomyosarcoma, embryonal, 2;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Pleuropulmonary blastoma;Euthyroid goiter Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2_pleuropulmonary_blastoma Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2_pleuropulmonary_blastoma_euthyroid_goiter_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma;Euthyroid goiter;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_embryonal_2_pleuropulmonary_blastoma_global_developmental_delay_lung_cysts_overgrowth_wilms_tumor_syndrome_euthyroid_goiter Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma;Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome;Euthyroid goiter Supplemental_disease_name DISEASE_NAME:rhabdomyosarcoma_somatic Rhabdomyosarcoma, somatic Supplemental_disease_name DISEASE_NAME:rhag_related_disorder RHAG-related disorder Supplemental_disease_name DISEASE_NAME:rhbdf2_related_disorder RHBDF2-related disorder Supplemental_disease_name DISEASE_NAME:rhd_category_d_vii RhD category D-VII Supplemental_disease_name DISEASE_NAME:rhd_del RHD DEL Supplemental_disease_name DISEASE_NAME:rhd_negative RhD negative Supplemental_disease_name DISEASE_NAME:rhd_negative_polymorphism RHD-NEGATIVE POLYMORPHISM Supplemental_disease_name DISEASE_NAME:rhd_weak_d_type_i Rhd, weak d, type I Supplemental_disease_name DISEASE_NAME:rheb_related_disorder RHEB-related disorder Supplemental_disease_name DISEASE_NAME:rheumatoid_arthritis_abnormal_pulmonary_interstitial_morphology Rheumatoid arthritis;Abnormal pulmonary interstitial morphology Supplemental_disease_name DISEASE_NAME:rheumatoid_arthritis_mhc_class_ii_deficiency Rheumatoid arthritis;MHC class II deficiency Supplemental_disease_name DISEASE_NAME:rheumatoid_arthritis_mhc_class_ii_deficiency_1 Rheumatoid arthritis;MHC class II deficiency 1 Supplemental_disease_name DISEASE_NAME:rheumatoid_arthritis_progression_of Rheumatoid arthritis, progression of Supplemental_disease_name DISEASE_NAME:rhex_related_disorder RHEX-related disorder Supplemental_disease_name DISEASE_NAME:rhizomelic_chondrodysplasia_punctata_type_1_peroxisome_biogenesis_disorder_9b Rhizomelic chondrodysplasia punctata type 1;Peroxisome biogenesis disorder 9B Supplemental_disease_name DISEASE_NAME:rhizomelic_chondrodysplasia_punctata_type_1_peroxisome_biogenesis_disorder_9b_phytanic_acid_storage_disease Rhizomelic chondrodysplasia punctata type 1;Peroxisome biogenesis disorder 9B;Phytanic acid storage disease Supplemental_disease_name DISEASE_NAME:rhizomelic_chondrodysplasia_punctata_type_1_phytanic_acid_storage_disease_peroxisome_biogenesis_disorder_9b Rhizomelic chondrodysplasia punctata type 1;Phytanic acid storage disease;Peroxisome biogenesis disorder 9B Supplemental_disease_name DISEASE_NAME:rhizomelic_chondrodysplasia_punctata_type_5_peroxisome_biogenesis_disorder_2a_zellweger_peroxisome_biogenesis_disorder_2b Rhizomelic chondrodysplasia punctata type 5;Peroxisome biogenesis disorder 2A (Zellweger);Peroxisome biogenesis disorder 2B Supplemental_disease_name DISEASE_NAME:rhizomelic_dysplasia Rhizomelic dysplasia Supplemental_disease_name DISEASE_NAME:rhizomelic_dysplasia_ain_naz_type Rhizomelic dysplasia, Ain-Naz type Supplemental_disease_name DISEASE_NAME:rhizomelic_limb_shortening_with_dysmorphic_features Rhizomelic limb shortening with dysmorphic features Supplemental_disease_name DISEASE_NAME:rhizomelic_skeletal_dysplasia_with_pelger_huet_anomaly RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY Supplemental_disease_name DISEASE_NAME:rhizomelic_skeletal_dysplasia_without_pelger_huet_anomaly RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY Supplemental_disease_name DISEASE_NAME:rho_related_disorder RHO-related disorder Supplemental_disease_name DISEASE_NAME:rhoa_related_disorder RHOA-related disorder Supplemental_disease_name DISEASE_NAME:rhob_related_disorder RHOB-related disorder Supplemental_disease_name DISEASE_NAME:rhobtb2_related_disorder RHOBTB2-related disorder Supplemental_disease_name DISEASE_NAME:rhobtb2_related_neurodevelopmental_disorder RHOBTB2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rhog_related_condition RHOG-related condition Supplemental_disease_name DISEASE_NAME:rhoh_related_disorder RHOH-related disorder Supplemental_disease_name DISEASE_NAME:rhombencephalosynapsis Rhombencephalosynapsis Supplemental_disease_name DISEASE_NAME:rhyns_syndrome RHYNS syndrome Supplemental_disease_name DISEASE_NAME:ribavirin_response_efficacy ribavirin response - Efficacy Supplemental_disease_name DISEASE_NAME:ric1_related_disorder RIC1-related disorder Supplemental_disease_name DISEASE_NAME:ric3_related_disorder RIC3-related disorder Supplemental_disease_name DISEASE_NAME:richieri_costa_pereira_syndrome Richieri Costa-Pereira syndrome Supplemental_disease_name DISEASE_NAME:rieger_anomaly Rieger anomaly Supplemental_disease_name DISEASE_NAME:rienhoff_syndrome Rienhoff syndrome Supplemental_disease_name DISEASE_NAME:rienhoff_syndrome_arrhythmogenic_right_ventricular_dysplasia_1 Rienhoff syndrome;Arrhythmogenic right ventricular dysplasia 1 Supplemental_disease_name DISEASE_NAME:right_aortic_arch_hemivertebrae_renal_agenesis Right aortic arch;Hemivertebrae;Renal agenesis Supplemental_disease_name DISEASE_NAME:right_atrial_isomerism_congenital_heart_defects_multiple_types_6 Right atrial isomerism;Congenital heart defects, multiple types, 6 Supplemental_disease_name DISEASE_NAME:right_ventricular_cardiomyopathy Right ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:rigi_related_disorder RIGI-related disorder Supplemental_disease_name DISEASE_NAME:rigidity_and_multifocal_seizure_syndrome Rigidity and multifocal seizure syndrome Supplemental_disease_name DISEASE_NAME:rilpl1_related_disorder RILPL1-related disorder Supplemental_disease_name DISEASE_NAME:rims1_related_disorder RIMS1-related disorder Supplemental_disease_name DISEASE_NAME:rims2_related_disorder RIMS2-related disorder Supplemental_disease_name DISEASE_NAME:rims3_related_disorder RIMS3-related disorder Supplemental_disease_name DISEASE_NAME:rin1_related_disorder RIN1-related disorder Supplemental_disease_name DISEASE_NAME:rin2_related_disorder RIN2-related disorder Supplemental_disease_name DISEASE_NAME:rin2_syndrome RIN2 syndrome Supplemental_disease_name DISEASE_NAME:rin3_related_disorder RIN3-related disorder Supplemental_disease_name DISEASE_NAME:ring_chromosome_7 Ring chromosome 7 Supplemental_disease_name DISEASE_NAME:rint1_related_disorder RINT1-related disorder Supplemental_disease_name DISEASE_NAME:ripk1_related_disorder RIPK1-related disorder Supplemental_disease_name DISEASE_NAME:ripk4_related_disorder RIPK4-related disorder Supplemental_disease_name DISEASE_NAME:ripor2_related_disorder RIPOR2-related disorder Supplemental_disease_name DISEASE_NAME:rippling_muscle_disease Rippling muscle disease Supplemental_disease_name DISEASE_NAME:rippling_muscle_disease_2_autosomal_recessive Rippling muscle disease 2, autosomal recessive Supplemental_disease_name DISEASE_NAME:rippling_muscle_disease_2_distal_myopathy_tateyama_type_long_qt_syndrome_9_elevated_circulating_creatine_kinase_activity_hypertrophic_cardiomyopathy_1 Rippling muscle disease 2;Distal myopathy, Tateyama type;Long QT syndrome 9;Elevated circulating creatine kinase activity;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:ripply1_related_disorder RIPPLY1-related disorder Supplemental_disease_name DISEASE_NAME:ripply2_related_disorder RIPPLY2-related disorder Supplemental_disease_name DISEASE_NAME:risk_of_requirement_of_invasive_mechanical_ventilation_in_patients_with_severe_covid_19 Risk of requirement of invasive mechanical ventilation in patients with severe COVID-19 Supplemental_disease_name DISEASE_NAME:rit1_related_disorder RIT1-related disorder Supplemental_disease_name DISEASE_NAME:ritscher_schinzel_syndrome_1_hereditary_spastic_paraplegia_8 Ritscher-Schinzel syndrome 1;Hereditary spastic paraplegia 8 Supplemental_disease_name DISEASE_NAME:ritscher_schinzel_syndrome_1_syndrome_with_a_dandy_walker_malformation_as_major_feature Ritscher-Schinzel syndrome 1;Syndrome with a Dandy-Walker malformation as major feature Supplemental_disease_name DISEASE_NAME:ritscher_schinzel_syndrome_3 Ritscher-Schinzel syndrome 3 Supplemental_disease_name DISEASE_NAME:ritscher_schinzel_syndrome_4 Ritscher-Schinzel syndrome 4 Supplemental_disease_name DISEASE_NAME:ritscher_schinzel_syndrome_hereditary_spastic_paraplegia_8 Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8 Supplemental_disease_name DISEASE_NAME:rlbp1_related_disorder RLBP1-related disorder Supplemental_disease_name DISEASE_NAME:rlim_related_disorder RLIM-related disorder Supplemental_disease_name DISEASE_NAME:rlim_related_syndromic_intellectual_disability RLIM-related syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:rmi1_related_disorder RMI1-related disorder Supplemental_disease_name DISEASE_NAME:rmnd1_related_disorder RMND1-related disorder Supplemental_disease_name DISEASE_NAME:rmp64_related_condition RMP64-related condition Supplemental_disease_name DISEASE_NAME:rmrp_related_disorder RMRP-related disorder Supplemental_disease_name DISEASE_NAME:rnaseh1_related_disorder RNASEH1-related disorder Supplemental_disease_name DISEASE_NAME:rnaseh2a_related_disorder RNASEH2A-related disorder Supplemental_disease_name DISEASE_NAME:rnaseh2a_related_type_1_interferonopathy RNASEH2A-related type 1 interferonopathy Supplemental_disease_name DISEASE_NAME:rnaseh2b_related_disorder RNASEH2B-related disorder Supplemental_disease_name DISEASE_NAME:rnaseh2c_related_disorder RNASEH2C-related disorder Supplemental_disease_name DISEASE_NAME:rnasel_related_disorder RNASEL-related disorder Supplemental_disease_name DISEASE_NAME:rnaset2_related_disorder RNASET2-related disorder Supplemental_disease_name DISEASE_NAME:rnf113a_related_disorder RNF113A-related disorder Supplemental_disease_name DISEASE_NAME:rnf125_related_disorder RNF125-related disorder Supplemental_disease_name DISEASE_NAME:rnf128_related_disorder RNF128-related disorder Supplemental_disease_name DISEASE_NAME:rnf135_related_disorder RNF135-related disorder Supplemental_disease_name DISEASE_NAME:rnf13_related_disorder RNF13-related disorder Supplemental_disease_name DISEASE_NAME:rnf168_related_disorder RNF168-related disorder Supplemental_disease_name DISEASE_NAME:rnf170_related_disorder RNF170-related disorder Supplemental_disease_name DISEASE_NAME:rnf212_related_disorder RNF212-related disorder Supplemental_disease_name DISEASE_NAME:rnf213_related_disorder RNF213-related disorder Supplemental_disease_name DISEASE_NAME:rnf216_related_disorder RNF216-related disorder Supplemental_disease_name DISEASE_NAME:rnf220_related_condition RNF220-related condition Supplemental_disease_name DISEASE_NAME:rnf2_associated_neurodevelopmental_condition RNF2-associated neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:rnf2_related_disorder RNF2-related disorder Supplemental_disease_name DISEASE_NAME:rnf31_related_disorder RNF31-related disorder Supplemental_disease_name DISEASE_NAME:rnf43_related_disorder RNF43-related disorder Supplemental_disease_name DISEASE_NAME:rnh1_related_disorder RNH1-related disorder Supplemental_disease_name DISEASE_NAME:rnpc3_related_disorder RNPC3-related disorder Supplemental_disease_name DISEASE_NAME:rnu2_2_related_disorder RNU2-2 related disorder Supplemental_disease_name DISEASE_NAME:rnu2_2_related_neurodevelopmental_disorder RNU2-2 related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rnu2_2_related_neurodevelopmental_disorder_autosomal_recessive RNU2-2 related neurodevelopmental disorder, autosomal recessive Supplemental_disease_name DISEASE_NAME:rnu2_2p_related_disorders RNU2-2P-related disorders Supplemental_disease_name DISEASE_NAME:rnu4_1_associated_neurodevelopmental_disorder RNU4-1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rnu4_2_associated_neurodevelopmental_disorder RNU4-2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rnu4atac_related_disorder RNU4ATAC-related disorder Supplemental_disease_name DISEASE_NAME:rnu4atac_related_spliceosomopathies RNU4ATAC-related spliceosomopathies Supplemental_disease_name DISEASE_NAME:rnu4atac_spectrum_disorder RNU4ATAC spectrum disorder Supplemental_disease_name DISEASE_NAME:rnu5a_1_associated_neurodevelopmental_disorder RNU5A-1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rnu5b_1_associated_neurodevelopmental_disorder RNU5B-1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rnu5b_1_related_disorder RNU5B-1 related disorder Supplemental_disease_name DISEASE_NAME:rnu5b_1_related_neurodevelopmental_disorder_with_seizures_and_joint_laxity RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity Supplemental_disease_name DISEASE_NAME:rnu5e_1_associated_neurodevelopmental_disorder RNU5E-1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rnu5f_1_associated_neurodevelopmental_disorder RNU5F-1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rnu6atac_associated_neurodevelopmental_disorder RNU6ATAC-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rnu6atac_spectrum_disorder RNU6ATAC spectrum disorder Supplemental_disease_name DISEASE_NAME:rnvu1_22_associated_neurodevelopmental_disorder RNVU1-22-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rnvu1_27_associated_neurodevelopmental_disorder RNVU1-27-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:roberts_sc_phocomelia_syndrome_juberg_hayward_syndrome Roberts-SC phocomelia syndrome;Juberg-Hayward syndrome Supplemental_disease_name DISEASE_NAME:robinow_sorauf_syndrome Robinow-Sorauf syndrome Supplemental_disease_name DISEASE_NAME:robinow_sorauf_syndrome_saethre_chotzen_syndrome_twist1_related_craniosynostosis_sweeney_cox_syndrome Robinow-Sorauf syndrome;Saethre-Chotzen syndrome;TWIST1-related craniosynostosis;Sweeney-Cox syndrome Supplemental_disease_name DISEASE_NAME:robinow_sorauf_syndrome_twist1_related_craniosynostosis_saethre_chotzen_syndrome Robinow-Sorauf syndrome;TWIST1-related craniosynostosis;Saethre-Chotzen syndrome Supplemental_disease_name DISEASE_NAME:robinow_syndrome_autosomal_recessive_2 Robinow syndrome, autosomal recessive 2 Supplemental_disease_name DISEASE_NAME:robinow_syndrome_autosomal_recessive_with_aplasia_hypoplasia_of_phalanges_and_metacarpals_metatarsals Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals Supplemental_disease_name DISEASE_NAME:robinow_syndrome_autosomal_recessive_with_brachy_syn_polydactyly Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Supplemental_disease_name DISEASE_NAME:robo1_related_disorder ROBO1-related disorder Supplemental_disease_name DISEASE_NAME:robo2_related_disorder ROBO2-related disorder Supplemental_disease_name DISEASE_NAME:robo3_related_disorder ROBO3-related disorder Supplemental_disease_name DISEASE_NAME:robo4_related_disorder ROBO4-related disorder Supplemental_disease_name DISEASE_NAME:rock2_related_disorder ROCK2-related disorder Supplemental_disease_name DISEASE_NAME:rod_cone_dystrophy Rod-cone dystrophy Supplemental_disease_name DISEASE_NAME:rod_cone_dystrophy_attention_deficit_hyperactivity_disorder_moderate_intellectual_disability Rod-cone dystrophy;Attention deficit hyperactivity disorder;Moderate intellectual disability Supplemental_disease_name DISEASE_NAME:rod_cone_dystrophy_hypomagnesemia Rod-cone dystrophy;Hypomagnesemia Supplemental_disease_name DISEASE_NAME:rod_cone_dystrophy_moderate_intellectual_disability Rod-cone dystrophy;Moderate intellectual disability Supplemental_disease_name DISEASE_NAME:rod_cone_dystrophy_sensorineural_deafness_and_fanconi_type_renal_dysfunction Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction Supplemental_disease_name DISEASE_NAME:rod_cone_dystrophy_sensorineural_deafness_and_fanconi_type_renal_dysfunction_mitochondrial_dna_depletion_syndrome_8a_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_5 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction;Mitochondrial DNA depletion syndrome 8a;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Supplemental_disease_name DISEASE_NAME:rod_cone_dystrophy_sensorineural_deafness_and_fanconi_type_renal_dysfunction_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_5_mitochondrial_dna_depletion_syndrome_8a Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5;Mitochondrial DNA depletion syndrome 8a Supplemental_disease_name DISEASE_NAME:rogdi_related_disorder ROGDI-related disorder Supplemental_disease_name DISEASE_NAME:rogrip1l_related_disorder ROGRIP1L-related disorder Supplemental_disease_name DISEASE_NAME:roifman_syndrome Roifman syndrome Supplemental_disease_name DISEASE_NAME:rolandic_epilepsy_intellectual_disability_and_speech_dyspraxia_x_linked Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked Supplemental_disease_name DISEASE_NAME:rolandic_epilepsy_paroxysmal_exercise_induced_dystonia_writer_s_cramp_syndrome_doors_syndrome_familial_infantile_myoclonic_epilepsy_developmental_and_epileptic_encephalopathy_16 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome;DOORS syndrome;Familial infantile myoclonic epilepsy;Developmental and epileptic encephalopathy, 16 Supplemental_disease_name DISEASE_NAME:rom1_related_disorder ROM1-related disorder Supplemental_disease_name DISEASE_NAME:ror1_related_disorder ROR1-related disorder Supplemental_disease_name DISEASE_NAME:ror2_related_disorder ROR2-related disorder Supplemental_disease_name DISEASE_NAME:rora_associated_neurodevelopmental_disorder RORA-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rora_related_disorder RORA-related disorder Supplemental_disease_name DISEASE_NAME:rorb_associated_seizure_disorder RORB-associated seizure disorder Supplemental_disease_name DISEASE_NAME:rorb_related_disorder RORB-related disorder Supplemental_disease_name DISEASE_NAME:rorc_related_disorder RORC-related disorder Supplemental_disease_name DISEASE_NAME:ros1_related_disorder ROS1-related disorder Supplemental_disease_name DISEASE_NAME:rosuvastatin_response_efficacy rosuvastatin response - Efficacy Supplemental_disease_name DISEASE_NAME:rosuvastatin_response_metabolism_pk rosuvastatin response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:rosuvastatin_response_toxicity rosuvastatin response - Toxicity Supplemental_disease_name DISEASE_NAME:rothmund_thomson_syndrome_baller_gerold_syndrome_rapadilino_syndrome Rothmund-Thomson syndrome;Baller-Gerold syndrome;Rapadilino syndrome Supplemental_disease_name DISEASE_NAME:rothmund_thomson_syndrome_rapadilino_syndrome_baller_gerold_syndrome Rothmund-Thomson syndrome;Rapadilino syndrome;Baller-Gerold syndrome Supplemental_disease_name DISEASE_NAME:rothmund_thomson_syndrome_type_1 Rothmund-Thomson syndrome type 1 Supplemental_disease_name DISEASE_NAME:rothmund_thomson_syndrome_type_2 Rothmund-Thomson syndrome type 2 Supplemental_disease_name DISEASE_NAME:rothmund_thomson_syndrome_type_2_baller_gerold_syndrome_rapadilino_syndrome Rothmund-Thomson syndrome type 2;Baller-Gerold syndrome;Rapadilino syndrome Supplemental_disease_name DISEASE_NAME:rothmund_thomson_syndrome_type_2_rapadilino_syndrome_baller_gerold_syndrome Rothmund-Thomson syndrome type 2;Rapadilino syndrome;Baller-Gerold syndrome Supplemental_disease_name DISEASE_NAME:rothmund_thomson_syndrome_type_3 Rothmund-Thomson syndrome type 3 Supplemental_disease_name DISEASE_NAME:rothmund_thomson_syndrome_type_4 Rothmund-Thomson syndrome type 4 Supplemental_disease_name DISEASE_NAME:rothmund_thomson_syndrome_type_4_seckel_syndrome_8 Rothmund-Thomson syndrome type 4;Seckel syndrome 8 Supplemental_disease_name DISEASE_NAME:rotor_syndrome Rotor syndrome Supplemental_disease_name DISEASE_NAME:rous_sarcoma Rous sarcoma Supplemental_disease_name DISEASE_NAME:roussy_lévy_syndrome Roussy-Lévy syndrome Supplemental_disease_name DISEASE_NAME:roussy_lévy_syndrome_neuropathy_congenital_hypomyelinating_2_dejerine_sottas_disease Roussy-Lévy syndrome;Neuropathy, congenital hypomyelinating, 2;Dejerine-Sottas disease Supplemental_disease_name DISEASE_NAME:rp1_related_disorder RP1-related disorder Supplemental_disease_name DISEASE_NAME:rp1_related_recessive_retinopathy RP1-related recessive retinopathy Supplemental_disease_name DISEASE_NAME:rp1_related_retinal_dystrophy RP1-related retinal dystrophy Supplemental_disease_name DISEASE_NAME:rp1l1_related_disorder RP1L1-related disorder Supplemental_disease_name DISEASE_NAME:rp2_related_disorder RP2-related disorder Supplemental_disease_name DISEASE_NAME:rp56ka3_related_disorder RP56KA3-related disorder Supplemental_disease_name DISEASE_NAME:rp9_related_disorder RP9-related disorder Supplemental_disease_name DISEASE_NAME:rpa1_related_disorder RPA1-related disorder Supplemental_disease_name DISEASE_NAME:rpa1_related_short_telomere_syndrome RPA1-related short telomere syndrome Supplemental_disease_name DISEASE_NAME:rpa2_related_disorder RPA2-related disorder Supplemental_disease_name DISEASE_NAME:rpe65_related_disorder RPE65-related disorder Supplemental_disease_name DISEASE_NAME:rpe65_related_recessive_retinopathy RPE65-related recessive retinopathy Supplemental_disease_name DISEASE_NAME:rpe65_related_retinopathy RPE65-related retinopathy Supplemental_disease_name DISEASE_NAME:rpgr_related_disorder RPGR-related disorder Supplemental_disease_name DISEASE_NAME:rpgr_related_retinopathy RPGR-related retinopathy Supplemental_disease_name DISEASE_NAME:rpgrip1_related_disorder RPGRIP1-related disorder Supplemental_disease_name DISEASE_NAME:rpgrip1l_related_disorder RPGRIP1L-related disorder Supplemental_disease_name DISEASE_NAME:rph3a_related_condition RPH3A-related condition Supplemental_disease_name DISEASE_NAME:rpia_related_disorder RPIA-related disorder Supplemental_disease_name DISEASE_NAME:rpl10_related_disorder RPL10-related disorder Supplemental_disease_name DISEASE_NAME:rpl11_related_disorder RPL11-related disorder Supplemental_disease_name DISEASE_NAME:rpl13_related_disorder RPL13-related disorder Supplemental_disease_name DISEASE_NAME:rpl15_related_disorder RPL15-related disorder Supplemental_disease_name DISEASE_NAME:rpl18_related_disorder RPL18-related disorder Supplemental_disease_name DISEASE_NAME:rpl19_related_disorder RPL19-related disorder Supplemental_disease_name DISEASE_NAME:rpl26_related_disorder RPL26-related disorder Supplemental_disease_name DISEASE_NAME:rpl27_related_disorder RPL27-related disorder Supplemental_disease_name DISEASE_NAME:rpl31_related_condition RPL31-related condition Supplemental_disease_name DISEASE_NAME:rpl35_related_disorder RPL35-related disorder Supplemental_disease_name DISEASE_NAME:rpl35a_related_disorder RPL35A-related disorder Supplemental_disease_name DISEASE_NAME:rpl36a_hnrnph2_related_disorder RPL36A-HNRNPH2-related disorder Supplemental_disease_name DISEASE_NAME:rpl3l_related_condition RPL3L-related condition Supplemental_disease_name DISEASE_NAME:rpl5_related_disorder RPL5-related disorder Supplemental_disease_name DISEASE_NAME:rpl7a_related_condition RPL7A-related condition Supplemental_disease_name DISEASE_NAME:rpl9_related_disorder RPL9-related disorder Supplemental_disease_name DISEASE_NAME:rps10_nudt3_related_disorder RPS10-NUDT3-related disorder Supplemental_disease_name DISEASE_NAME:rps10_related_disorder RPS10-related disorder Supplemental_disease_name DISEASE_NAME:rps14_related_condition RPS14-related condition Supplemental_disease_name DISEASE_NAME:rps15_related_disorder RPS15-related disorder Supplemental_disease_name DISEASE_NAME:rps17_related_condition RPS17-related condition Supplemental_disease_name DISEASE_NAME:rps19_related_disorder RPS19-related disorder Supplemental_disease_name DISEASE_NAME:rps20_related_disorder RPS20-related disorder Supplemental_disease_name DISEASE_NAME:rps24_related_disorder RPS24-related disorder Supplemental_disease_name DISEASE_NAME:rps26_related_disorder RPS26-related disorder Supplemental_disease_name DISEASE_NAME:rps27_related_disorder RPS27-related disorder Supplemental_disease_name DISEASE_NAME:rps28_related_disorder RPS28-related disorder Supplemental_disease_name DISEASE_NAME:rps29_related_disorder RPS29-related disorder Supplemental_disease_name DISEASE_NAME:rps6ka3_related_disorder RPS6KA3-related disorder Supplemental_disease_name DISEASE_NAME:rps6ka5_related_disorder RPS6KA5-related disorder Supplemental_disease_name DISEASE_NAME:rps6kb2_related_disorder RPS6KB2-related disorder Supplemental_disease_name DISEASE_NAME:rps7_related_disorder RPS7-related disorder Supplemental_disease_name DISEASE_NAME:rps9_related_disorder RPS9-related disorder Supplemental_disease_name DISEASE_NAME:rpsa_related_disorder RPSA-related disorder Supplemental_disease_name DISEASE_NAME:rragc_related_condition RRAGC-related condition Supplemental_disease_name DISEASE_NAME:rragd_related_disorder RRAGD-related disorder Supplemental_disease_name DISEASE_NAME:rras2_related_disorder RRAS2-related disorder Supplemental_disease_name DISEASE_NAME:rras_related_disorder RRAS-related disorder Supplemental_disease_name DISEASE_NAME:rreb1_associated_noonan_like_syndrome RREB1-associated Noonan-like syndrome Supplemental_disease_name DISEASE_NAME:rreb1_related_disorder RREB1-related disorder Supplemental_disease_name DISEASE_NAME:rrm1_related_disorder RRM1-related disorder Supplemental_disease_name DISEASE_NAME:rrm2b_related_disorder RRM2B-related disorder Supplemental_disease_name DISEASE_NAME:rrm2b_related_mitochondrial_disease RRM2B-related mitochondrial disease Supplemental_disease_name DISEASE_NAME:rs1_related_disorder RS1-related disorder Supplemental_disease_name DISEASE_NAME:rsf1_related_condition RSF1-related condition Supplemental_disease_name DISEASE_NAME:rsf1_related_neurodevelopmental_disorder RSF1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:rsph1_related_disorder RSPH1-related disorder Supplemental_disease_name DISEASE_NAME:rsph3_related_disorder RSPH3-related disorder Supplemental_disease_name DISEASE_NAME:rsph4a_related_disorder RSPH4A-related disorder Supplemental_disease_name DISEASE_NAME:rsph9_related_disorder RSPH9-related disorder Supplemental_disease_name DISEASE_NAME:rspo1_related_disorder RSPO1-related disorder Supplemental_disease_name DISEASE_NAME:rspo2_related_disorder RSPO2-related disorder Supplemental_disease_name DISEASE_NAME:rspo4_related_disorder RSPO4-related disorder Supplemental_disease_name DISEASE_NAME:rspry1_related_disorder RSPRY1-related disorder Supplemental_disease_name DISEASE_NAME:rsrc1_related_disorder RSRC1-related disorder Supplemental_disease_name DISEASE_NAME:rsrc2_related_disorder RSRC2-related disorder Supplemental_disease_name DISEASE_NAME:rtel1_related_disorder RTEL1-related disorder Supplemental_disease_name DISEASE_NAME:rtn2_related_disorder RTN2-related disorder Supplemental_disease_name DISEASE_NAME:rtn4ip1_related_disorder RTN4IP1-related disorder Supplemental_disease_name DISEASE_NAME:rtn4r_related_disorder RTN4R-related disorder Supplemental_disease_name DISEASE_NAME:rttn_related_disorder RTTN-related disorder Supplemental_disease_name DISEASE_NAME:rubcn_related_disorder RUBCN-related disorder Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_like_syndrome Rubinstein Taybi like syndrome Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_16p13_3_microdeletion Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_crebbp_mutations Rubinstein-Taybi syndrome due to CREBBP mutations Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_crebbp_mutations_colorectal_cancer_menke_hennekam_syndrome_2_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations;Colorectal cancer;Menke-Hennekam syndrome 2;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_crebbp_mutations_colorectal_cancer_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_menke_hennekam_syndrome_2 Rubinstein-Taybi syndrome due to CREBBP mutations;Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Menke-Hennekam syndrome 2 Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_crebbp_mutations_menke_hennekam_syndrome_1 Rubinstein-Taybi syndrome due to CREBBP mutations;Menke-Hennekam syndrome 1 Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_crebbp_mutations_menke_hennekam_syndrome_2_colorectal_cancer_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations;Menke-Hennekam syndrome 2;Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_crebbp_mutations_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_colorectal_cancer_menke_hennekam_syndrome_2 Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer;Menke-Hennekam syndrome 2 Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_crebbp_mutations_rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_menke_hennekam_syndrome_2_colorectal_cancer Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Menke-Hennekam syndrome 2;Colorectal cancer Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_colorectal_cancer Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_colorectal_carcinoma Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal carcinoma Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_menke_hennekam_syndrome_2 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Menke-Hennekam syndrome 2 Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_menke_hennekam_syndrome_2_colorectal_cancer Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Menke-Hennekam syndrome 2;Colorectal cancer Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_rubinstein_taybi_syndrome Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Rubinstein-Taybi syndrome Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency_rubinstein_taybi_syndrome_due_to_crebbp_mutations_colorectal_cancer_menke_hennekam_syndrome_2 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Rubinstein-Taybi syndrome due to CREBBP mutations;Colorectal cancer;Menke-Hennekam syndrome 2 Supplemental_disease_name DISEASE_NAME:rudimentary_fibula_ankle_flexion_contracture Rudimentary fibula;Ankle flexion contracture Supplemental_disease_name DISEASE_NAME:runx1_it1_related_disorder RUNX1-IT1 related disorder Supplemental_disease_name DISEASE_NAME:runx1_related_disorder RUNX1-related disorder Supplemental_disease_name DISEASE_NAME:runx1t1_associated_neurodevelopmental_disorder RUNX1T1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:runx1t1_related_disorder RUNX1T1-related disorder Supplemental_disease_name DISEASE_NAME:runx2_related_disorder RUNX2-related disorder Supplemental_disease_name DISEASE_NAME:rusc2_related_disorder RUSC2-related disorder Supplemental_disease_name DISEASE_NAME:russell_silver_syndrome Russell-Silver syndrome Supplemental_disease_name DISEASE_NAME:rxfp2_related_disorder RXFP2-related disorder Supplemental_disease_name DISEASE_NAME:rxrb_related_disorder RXRB-related disorder Supplemental_disease_name DISEASE_NAME:rxylt1_related_disorder RXYLT1-related disorder Supplemental_disease_name DISEASE_NAME:rybp_related_condition RYBP-related condition Supplemental_disease_name DISEASE_NAME:ryk_related_disorder RYK-related disorder Supplemental_disease_name DISEASE_NAME:ryr1_related_disorder RYR1-related disorder Supplemental_disease_name DISEASE_NAME:ryr1_related_disorders RYR1-related disorders Supplemental_disease_name DISEASE_NAME:ryr1_related_myopathy RYR1-related myopathy Supplemental_disease_name DISEASE_NAME:ryr2_related_disorder RYR2-related disorder Supplemental_disease_name DISEASE_NAME:ryr3_related_disorder RYR3-related disorder Supplemental_disease_name DISEASE_NAME:ryr3_related_epileptic_encephalopathy RYR3-related Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:s1pr2_related_disorder S1PR2-related disorder Supplemental_disease_name DISEASE_NAME:saa1_related_disorder SAA1-related disorder Supplemental_disease_name DISEASE_NAME:saccharopinuria_hyperlysinemia Saccharopinuria;Hyperlysinemia Supplemental_disease_name DISEASE_NAME:sacral_agenesis_abnormal_ossification_of_the_vertebral_bodies_persistent_notochordal_canal_syndrome Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome Supplemental_disease_name DISEASE_NAME:sacral_agenesis_abnormal_ossification_of_the_vertebral_bodies_persistent_notochordal_canal_syndrome_neural_tube_defects_susceptibility_to Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome;Neural tube defects, susceptibility to Supplemental_disease_name DISEASE_NAME:sacs_related_disorder SACS-related disorder Supplemental_disease_name DISEASE_NAME:saethre_chotzen_syndrome_twist1_related_craniosynostosis Saethre-Chotzen syndrome;TWIST1-related craniosynostosis Supplemental_disease_name DISEASE_NAME:saethre_chotzen_syndrome_with_eyelid_anomalies Saethre-Chotzen syndrome with eyelid anomalies Supplemental_disease_name DISEASE_NAME:sag_related_disorder SAG-related disorder Supplemental_disease_name DISEASE_NAME:sage1_related_disorder SAGE1-related disorder Supplemental_disease_name DISEASE_NAME:saldino_mainzer_syndrome Saldino-Mainzer syndrome Supplemental_disease_name DISEASE_NAME:saldino_mainzer_syndrome_joubert_syndrome_with_jeune_asphyxiating_thoracic_dystrophy Saldino-Mainzer syndrome;Joubert syndrome with Jeune asphyxiating thoracic dystrophy Supplemental_disease_name DISEASE_NAME:saldino_mainzer_syndrome_retinitis_pigmentosa_80 Saldino-Mainzer syndrome;Retinitis pigmentosa 80 Supplemental_disease_name DISEASE_NAME:salivary_adenoid_cystic_carcinoma Salivary adenoid cystic carcinoma Supplemental_disease_name DISEASE_NAME:salivary_gland_neoplasm Salivary gland neoplasm Supplemental_disease_name DISEASE_NAME:sall1_related_disorder SALL1-related disorder Supplemental_disease_name DISEASE_NAME:sall2_related_disorder SALL2-related disorder Supplemental_disease_name DISEASE_NAME:sall4_related_disorders SALL4-Related Disorders Supplemental_disease_name DISEASE_NAME:salla_disease Salla disease Supplemental_disease_name DISEASE_NAME:salla_disease_sialic_acid_storage_disease_severe_infantile_type Salla disease;Sialic acid storage disease, severe infantile type Supplemental_disease_name DISEASE_NAME:salmeterol_response_efficacy salmeterol response - Efficacy Supplemental_disease_name DISEASE_NAME:samd11_related_disorder SAMD11-related disorder Supplemental_disease_name DISEASE_NAME:samd14_related_disorder SAMD14-related disorder Supplemental_disease_name DISEASE_NAME:samd9_related_disorder SAMD9-related disorder Supplemental_disease_name DISEASE_NAME:samd9l_associated_autoinflammatory_syndrome SAMD9L-associated autoinflammatory syndrome Supplemental_disease_name DISEASE_NAME:samd9l_related_disorder SAMD9L-related disorder Supplemental_disease_name DISEASE_NAME:samhd1_related_disorder SAMHD1-related disorder Supplemental_disease_name DISEASE_NAME:sandhoff_disease_adult_form Sandhoff disease, adult form Supplemental_disease_name DISEASE_NAME:sandhoff_disease_chronic Sandhoff disease, chronic Supplemental_disease_name DISEASE_NAME:sandhoff_disease_infantile_form Sandhoff disease, infantile form Supplemental_disease_name DISEASE_NAME:sandhoff_disease_juvenile_form Sandhoff disease, juvenile form Supplemental_disease_name DISEASE_NAME:sanfilippo_syndrome Sanfilippo syndrome Supplemental_disease_name DISEASE_NAME:santos_syndrome Santos syndrome Supplemental_disease_name DISEASE_NAME:sap130_related_disorder SAP130-related disorder Supplemental_disease_name DISEASE_NAME:sar1b_related_disorder SAR1B-related disorder Supplemental_disease_name DISEASE_NAME:sarcoglycanopathy Sarcoglycanopathy Supplemental_disease_name DISEASE_NAME:sarcoidosis_susceptibility_to_1 Sarcoidosis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:sarcoidosis_susceptibility_to_2 Sarcoidosis, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:sarcosine_dehydrogenase_deficiency Sarcosine dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:sarcotubular_myopathy_bardet_biedl_syndrome_11 Sarcotubular myopathy;Bardet-Biedl syndrome 11 Supplemental_disease_name DISEASE_NAME:sardh_related_disorder SARDH-related disorder Supplemental_disease_name DISEASE_NAME:sardinian_hpfh Sardinian HPFH Supplemental_disease_name DISEASE_NAME:sarm1_related_disorder SARM1-related disorder Supplemental_disease_name DISEASE_NAME:sars1_related_disorder SARS1-related disorder Supplemental_disease_name DISEASE_NAME:sars2_associated_condition SARS2-associated condition Supplemental_disease_name DISEASE_NAME:sars2_related_disorder SARS2-related disorder Supplemental_disease_name DISEASE_NAME:sash1_related_disorder SASH1-related disorder Supplemental_disease_name DISEASE_NAME:sass6_related_disorder SASS6-related disorder Supplemental_disease_name DISEASE_NAME:satb1_related_disorder SATB1-related disorder Supplemental_disease_name DISEASE_NAME:satb1_related_neurodevelopmental_disorder SATB1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:satb2_associated_disorder SATB2 associated disorder Supplemental_disease_name DISEASE_NAME:satb2_related_disorder SATB2-related disorder Supplemental_disease_name DISEASE_NAME:satl1_related_disorder SATL1-related disorder Supplemental_disease_name DISEASE_NAME:sbds_related_disorder SBDS-related disorder Supplemental_disease_name DISEASE_NAME:sbf1_related_disorder SBF1-related disorder Supplemental_disease_name DISEASE_NAME:sbf2_related_disorder SBF2-related disorder Supplemental_disease_name DISEASE_NAME:sc5d_related_disorder SC5D-related disorder Supplemental_disease_name DISEASE_NAME:scaf4_associated_mental_retardation SCAF4-associated mental retardation Supplemental_disease_name DISEASE_NAME:scaf4_associated_neurodevelopmental_disorder SCAF4-associated Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:scaf4_related_disorder SCAF4-related disorder Supplemental_disease_name DISEASE_NAME:scamp5_related_disorder SCAMP5-related disorder Supplemental_disease_name DISEASE_NAME:scamp5_related_neurodevelopmental_and_movement_disorder SCAMP5-related neurodevelopmental and movement disorder Supplemental_disease_name DISEASE_NAME:scamp5_related_neurodevelopmental_disorder_with_autistic_features_and_seizures SCAMP5-related neurodevelopmental disorder with autistic features and seizures Supplemental_disease_name DISEASE_NAME:scaper_related_disorder SCAPER-related disorder Supplemental_disease_name DISEASE_NAME:scaphocephaly_and_axenfeld_rieger_anomaly SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY Supplemental_disease_name DISEASE_NAME:scapular_winging Scapular winging Supplemental_disease_name DISEASE_NAME:scapulohumeral_muscular_dystrophy Scapulohumeral muscular dystrophy Supplemental_disease_name DISEASE_NAME:scapuloperoneal_spinal_muscular_atrophy_neuronopathy_distal_hereditary_motor_autosomal_dominant_8 Scapuloperoneal spinal muscular atrophy;Neuronopathy, distal hereditary motor, autosomal dominant 8 Supplemental_disease_name DISEASE_NAME:scapuloperoneal_spinal_muscular_atrophy_trpv4_related_bone_disorder_neuronopathy_distal_hereditary_motor_autosomal_dominant_8_charcot_marie_tooth_disease_axonal_type_2c Scapuloperoneal spinal muscular atrophy;TRPV4-related bone disorder;Neuronopathy, distal hereditary motor, autosomal dominant 8;Charcot-Marie-Tooth disease axonal type 2C Supplemental_disease_name DISEASE_NAME:scara3_related_disorder SCARA3-related disorder Supplemental_disease_name DISEASE_NAME:scarb1_related_disorder SCARB1-related disorder Supplemental_disease_name DISEASE_NAME:scarb2_related_disorder SCARB2-related disorder Supplemental_disease_name DISEASE_NAME:scarf2_related_disorder SCARF2-related disorder Supplemental_disease_name DISEASE_NAME:scfd1_related_disorder SCFD1-related disorder Supplemental_disease_name DISEASE_NAME:scgn_related_disorder SCGN-related disorder Supplemental_disease_name DISEASE_NAME:schaaf_yang_syndrome_prader_willi_like_syndrome Schaaf-Yang syndrome;Prader-Willi-like syndrome Supplemental_disease_name DISEASE_NAME:schaaf_yang_syndrome_prader_willi_syndrome Schaaf-Yang syndrome;Prader-Willi syndrome Supplemental_disease_name DISEASE_NAME:schinzel_giedion_syndrome_intellectual_disability_autosomal_dominant_29 Schinzel-Giedion syndrome;Intellectual disability, autosomal dominant 29 Supplemental_disease_name DISEASE_NAME:schizencephaly Schizencephaly Supplemental_disease_name DISEASE_NAME:schizencephaly_holoprosencephaly_2 Schizencephaly;Holoprosencephaly 2 Supplemental_disease_name DISEASE_NAME:schizoaffective_depressive_disorder Schizoaffective depressive disorder Supplemental_disease_name DISEASE_NAME:schizophrenia_15_phelan_mcdermid_syndrome Schizophrenia 15;Phelan-McDermid syndrome Supplemental_disease_name DISEASE_NAME:schizophrenia_17 Schizophrenia 17 Supplemental_disease_name DISEASE_NAME:schizophrenia_18_dicarboxylic_aminoaciduria Schizophrenia 18;Dicarboxylic aminoaciduria Supplemental_disease_name DISEASE_NAME:schizophrenia_4_proline_dehydrogenase_deficiency Schizophrenia 4;Proline dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:schizophrenia_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_neural_tube_defects_folate_sensitive_thrombophilia_due_to_thrombin_defect Schizophrenia;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Neural tube defects, folate-sensitive;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:schizophrenia_susceptibility_to Schizophrenia, susceptibility to Supplemental_disease_name DISEASE_NAME:schizophrenia_thrombophilia_due_to_thrombin_defect_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_neural_tube_defects_folate_sensitive Schizophrenia;Thrombophilia due to thrombin defect;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Neural tube defects, folate-sensitive Supplemental_disease_name DISEASE_NAME:schizophrenia_thrombophilia_due_to_thrombin_defect_neural_tube_defects_folate_sensitive_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency Schizophrenia;Thrombophilia due to thrombin defect;Neural tube defects, folate-sensitive;Homocystinuria due to methylene tetrahydrofolate reductase deficiency Supplemental_disease_name DISEASE_NAME:schmid_type_metaphyseal_chondrodysplasia Schmid type metaphyseal chondrodysplasia Supplemental_disease_name DISEASE_NAME:schwannomatosis_1_somatic Schwannomatosis 1, somatic Supplemental_disease_name DISEASE_NAME:schwannomatosis_noonan_syndrome_2 Schwannomatosis;Noonan syndrome 2 Supplemental_disease_name DISEASE_NAME:schwartz_jampel_syndrome Schwartz-Jampel syndrome Supplemental_disease_name DISEASE_NAME:schwartz_jampel_syndrome_chromosome_1p36_deletion_syndrome Schwartz-Jampel syndrome;Chromosome 1p36 deletion syndrome Supplemental_disease_name DISEASE_NAME:schwartz_jampel_syndrome_lethal_kniest_like_syndrome Schwartz-Jampel syndrome;Lethal Kniest-like syndrome Supplemental_disease_name DISEASE_NAME:schwartz_jampel_syndrome_type_1_lethal_kniest_like_syndrome Schwartz-Jampel syndrome type 1;Lethal Kniest-like syndrome Supplemental_disease_name DISEASE_NAME:schöpf_schulz_passarge_syndrome Schöpf-Schulz-Passarge syndrome Supplemental_disease_name DISEASE_NAME:schöpf_schulz_passarge_syndrome_odonto_onycho_dermal_dysplasia_tooth_agenesis_selective_4 Schöpf-Schulz-Passarge syndrome;Odonto-onycho-dermal dysplasia;Tooth agenesis, selective, 4 Supplemental_disease_name DISEASE_NAME:schöpf_schulz_passarge_syndrome_tooth_agenesis_selective_4 Schöpf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4 Supplemental_disease_name DISEASE_NAME:schöpf_schulz_passarge_syndrome_tooth_agenesis_selective_4_odonto_onycho_dermal_dysplasia Schöpf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4;Odonto-onycho-dermal dysplasia Supplemental_disease_name DISEASE_NAME:scianna_blood_group_system_sc_1_2 SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 Supplemental_disease_name DISEASE_NAME:scid_due_to_ada_deficiency_delayed_onset SCID due to ADA deficiency, delayed onset Supplemental_disease_name DISEASE_NAME:scid_with_features_of_gamma_chain_deficiency SCID with features of gamma chain deficiency Supplemental_disease_name DISEASE_NAME:scimitar_anomaly_multiple_cardiac_malformations_and_craniofacial_and_central_nervous_system_abnormalities Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities Supplemental_disease_name DISEASE_NAME:scleroderma Scleroderma Supplemental_disease_name DISEASE_NAME:sclerosing_pneumocytoma Sclerosing pneumocytoma Supplemental_disease_name DISEASE_NAME:sclerosteosis_1_craniodiaphyseal_dysplasia_autosomal_dominant Sclerosteosis 1;Craniodiaphyseal dysplasia, autosomal dominant Supplemental_disease_name DISEASE_NAME:sclerosteosis_2_cenani_lenz_syndactyly_syndrome_congenital_myasthenic_syndrome_17 Sclerosteosis 2;Cenani-Lenz syndactyly syndrome;Congenital myasthenic syndrome 17 Supplemental_disease_name DISEASE_NAME:sclerosteosis_2_congenital_myasthenic_syndrome_17_cenani_lenz_syndactyly_syndrome Sclerosteosis 2;Congenital myasthenic syndrome 17;Cenani-Lenz syndactyly syndrome Supplemental_disease_name DISEASE_NAME:sclt1_related_disorder SCLT1-related disorder Supplemental_disease_name DISEASE_NAME:scn10a_related_disorder SCN10A-related disorder Supplemental_disease_name DISEASE_NAME:scn11a_related_disorder SCN11A-related disorder Supplemental_disease_name DISEASE_NAME:scn1a_related_channelopathy SCN1A-related channelopathy Supplemental_disease_name DISEASE_NAME:scn1a_related_disorder SCN1A-related disorder Supplemental_disease_name DISEASE_NAME:scn1a_related_epilepsy_syndrome_recessive SCN1A-related epilepsy syndrome, recessive Supplemental_disease_name DISEASE_NAME:scn1a_seizure_disorder SCN1A seizure disorder Supplemental_disease_name DISEASE_NAME:scn1a_seizure_disorders SCN1A Seizure Disorders Supplemental_disease_name DISEASE_NAME:scn1b_related_disorder SCN1B-related disorder Supplemental_disease_name DISEASE_NAME:scn2a_associated_neurodevelopmental_disorders SCN2A-associated neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:scn2a_mediated_disorder SCN2A-mediated disorder Supplemental_disease_name DISEASE_NAME:scn2a_related_disorder SCN2A-related disorder Supplemental_disease_name DISEASE_NAME:scn2a_related_generalized_epilepsy_with_febrile_seizures_plus SCN2A-related generalized epilepsy with febrile seizures plus Supplemental_disease_name DISEASE_NAME:scn2a_related_generalized_epilepsy_with_febrile_seizures_plus_seizures_benign_familial_infantile_3 SCN2A-related generalized epilepsy with febrile seizures plus;Seizures, benign familial infantile, 3 Supplemental_disease_name DISEASE_NAME:scn2a_related_neurodevelopmental_disorder SCN2A-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:scn2b_related_disorder SCN2B-related disorder Supplemental_disease_name DISEASE_NAME:scn3a_related_disorder SCN3A-related disorder Supplemental_disease_name DISEASE_NAME:scn3a_related_neurodevelopmental_disorder SCN3A-Related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:scn3a_related_neurodevelopmental_sisorder SCN3A-related neurodevelopmental sisorder Supplemental_disease_name DISEASE_NAME:scn3b_related_disorder SCN3B-related disorder Supplemental_disease_name DISEASE_NAME:scn4a_related_channelopathies SCN4A-related channelopathies Supplemental_disease_name DISEASE_NAME:scn4a_related_channelopathy SCN4A-related channelopathy Supplemental_disease_name DISEASE_NAME:scn4a_related_disorder SCN4A-related disorder Supplemental_disease_name DISEASE_NAME:scn4a_related_myopathy_autosomal_recessive SCN4A-related myopathy, autosomal recessive Supplemental_disease_name DISEASE_NAME:scn4a_related_non_dystrophic_myotonia SCN4A-related non-dystrophic myotonia Supplemental_disease_name DISEASE_NAME:scn4b_related_disorder SCN4B-related disorder Supplemental_disease_name DISEASE_NAME:scn5a_related_disorder SCN5A-related disorder Supplemental_disease_name DISEASE_NAME:scn7a_related_disorder SCN7A-related disorder Supplemental_disease_name DISEASE_NAME:scn8a_related_complex_neurodevelopmental_disorder SCN8A-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:scn8a_related_disorder SCN8A-related disorder Supplemental_disease_name DISEASE_NAME:scn8a_related_epileptic_disorder SCN8A-related epileptic disorder Supplemental_disease_name DISEASE_NAME:scn8a_related_neurodevelopmental_delay SCN8A-related neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:scn9a_related_disorder SCN9A-related disorder Supplemental_disease_name DISEASE_NAME:scn9a_related_neuropathic_pain_syndromes SCN9A-related neuropathic pain syndromes Supplemental_disease_name DISEASE_NAME:scn9a_related_peripheral_neuropathies_associated_with_increased_pain SCN9A-related peripheral neuropathies associated with increased pain Supplemental_disease_name DISEASE_NAME:scnn1a_related_disorder SCNN1A-related disorder Supplemental_disease_name DISEASE_NAME:scnn1b_related_disorder SCNN1B-related disorder Supplemental_disease_name DISEASE_NAME:scnn1g_related_disorder SCNN1G-related disorder Supplemental_disease_name DISEASE_NAME:sco1_related_disorder SCO1-related disorder Supplemental_disease_name DISEASE_NAME:sco2_related_disorder SCO2-related disorder Supplemental_disease_name DISEASE_NAME:scoliosis_arthrogryposis_like_hand_anomaly_ankle_flexion_contracture Scoliosis;Arthrogryposis-like hand anomaly;Ankle flexion contracture Supplemental_disease_name DISEASE_NAME:scoliosis_global_developmental_delay Scoliosis;Global developmental delay Supplemental_disease_name DISEASE_NAME:scoliosis_hypotonia_abnormal_earlobe_morphology_feeding_difficulties_epicanthus Scoliosis;Hypotonia;Abnormal earlobe morphology;Feeding difficulties;Epicanthus Supplemental_disease_name DISEASE_NAME:scoliosis_isolated_susceptibility_to_1 Scoliosis, isolated, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:scoliosis_isolated_susceptibility_to_3 Scoliosis, isolated, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:scoliosis_isolated_susceptibility_to_6 Scoliosis, isolated, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:scoliosis_positional_foot_deformity Scoliosis;Positional foot deformity Supplemental_disease_name DISEASE_NAME:scp2_related_disorder SCP2-related disorder Supplemental_disease_name DISEASE_NAME:scrib_related_disorder SCRIB-related disorder Supplemental_disease_name DISEASE_NAME:scyl1_related_disorder SCYL1-related disorder Supplemental_disease_name DISEASE_NAME:scyl2_related_disorder SCYL2-related disorder Supplemental_disease_name DISEASE_NAME:sdccag8_related_disorder SDCCAG8-related disorder Supplemental_disease_name DISEASE_NAME:sdha_related_disorder SDHA-related disorder Supplemental_disease_name DISEASE_NAME:sdhaf1_related_disorder SDHAF1-related disorder Supplemental_disease_name DISEASE_NAME:sdhaf2_related_disorder SDHAF2-related disorder Supplemental_disease_name DISEASE_NAME:sdhb_related_disorder SDHB-related disorder Supplemental_disease_name DISEASE_NAME:sdhc_related_disorder SDHC-related disorder Supplemental_disease_name DISEASE_NAME:sdhd_related_disorder SDHD-related disorder Supplemental_disease_name DISEASE_NAME:sdk2_related_disorder SDK2-related disorder Supplemental_disease_name DISEASE_NAME:sdr9c7_related_disorder SDR9C7-related disorder Supplemental_disease_name DISEASE_NAME:seborrhea_like_dermatitis_with_psoriasiform_elements Seborrhea-like dermatitis with psoriasiform elements Supplemental_disease_name DISEASE_NAME:sec23a_related_disorder SEC23A-related disorder Supplemental_disease_name DISEASE_NAME:sec23b_related_disorder SEC23B-related disorder Supplemental_disease_name DISEASE_NAME:sec23ip_related_disorder SEC23IP-related disorder Supplemental_disease_name DISEASE_NAME:sec24d_related_disorder SEC24D-related disorder Supplemental_disease_name DISEASE_NAME:sec31a_related_disorder SEC31A-related disorder Supplemental_disease_name DISEASE_NAME:sec61a1_related_disorder SEC61A1-related disorder Supplemental_disease_name DISEASE_NAME:sec63_related_disorder SEC63-related disorder Supplemental_disease_name DISEASE_NAME:secisbp2_related_disorder SECISBP2-related disorder Supplemental_disease_name DISEASE_NAME:seckel_syndrome_11 Seckel syndrome 11 Supplemental_disease_name DISEASE_NAME:seckel_syndrome_1_familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome Seckel syndrome 1;Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Supplemental_disease_name DISEASE_NAME:seckel_syndrome_2_jawad_syndrome Seckel syndrome 2;Jawad syndrome Supplemental_disease_name DISEASE_NAME:seckel_syndrome_4_microcephaly_6_primary_autosomal_recessive Seckel syndrome 4;Microcephaly 6, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:seckel_syndrome_5_microcephaly_9_primary_autosomal_recessive Seckel syndrome 5;Microcephaly 9, primary, autosomal recessive Supplemental_disease_name DISEASE_NAME:seckel_syndrome_8_mitochondrial_dna_deletion_syndrome_with_progressive_myopathy Seckel syndrome 8;Mitochondrial DNA deletion syndrome with progressive myopathy Supplemental_disease_name DISEASE_NAME:seckel_syndrome_8_rothmund_thomson_syndrome_type_4_mitochondrial_dna_deletion_syndrome_with_progressive_myopathy Seckel syndrome 8;Rothmund-Thomson syndrome type 4;Mitochondrial DNA deletion syndrome with progressive myopathy Supplemental_disease_name DISEASE_NAME:secondary_acute_myeloid_leukemia secondary acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:secondary_hemophagocytic_lymphohistiocytosis_macrophage_activation_syndrome Secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome Supplemental_disease_name DISEASE_NAME:secondary_microcephaly_expressive_language_delay_global_developmental_delay Secondary microcephaly;Expressive language delay;Global developmental delay Supplemental_disease_name DISEASE_NAME:secondary_microcephaly_intellectual_disability Secondary microcephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:secretor_nonsecretor_polymorphism SECRETOR/NONSECRETOR POLYMORPHISM Supplemental_disease_name DISEASE_NAME:secretor_nonsecretor_polymorphism_japanese_type SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE Supplemental_disease_name DISEASE_NAME:segmental_undergrowth_associated_with_capillary_malformation Segmental undergrowth associated with capillary malformation Supplemental_disease_name DISEASE_NAME:segmental_undergrowth_associated_with_lymphatic_malformation Segmental undergrowth associated with lymphatic malformation Supplemental_disease_name DISEASE_NAME:segmental_undergrowth_associated_with_mainly_venous_malformation_with_capillary_component Segmental undergrowth associated with mainly venous malformation with capillary component Supplemental_disease_name DISEASE_NAME:segmental_undergrowth_associated_with_venous_malformation_without_capillary_component Segmental undergrowth associated with venous malformation without capillary component Supplemental_disease_name DISEASE_NAME:seizure Seizure Supplemental_disease_name DISEASE_NAME:seizure_abnormality_of_the_nervous_system Seizure;Abnormality of the nervous system Supplemental_disease_name DISEASE_NAME:seizure_attention_deficit_hyperactivity_disorder_global_developmental_delay_autistic_behavior Seizure;Attention deficit hyperactivity disorder;Global developmental delay;Autistic behavior Supplemental_disease_name DISEASE_NAME:seizure_atypical_behavior_hand_tremor_global_developmental_delay_macrocephaly Seizure;Atypical behavior;Hand tremor;Global developmental delay;Macrocephaly Supplemental_disease_name DISEASE_NAME:seizure_autism Seizure;Autism Supplemental_disease_name DISEASE_NAME:seizure_autistic_behavior Seizure;Autistic behavior Supplemental_disease_name DISEASE_NAME:seizure_autosomal_recessive_inheritance_global_developmental_delay Seizure;Autosomal recessive inheritance;Global developmental delay Supplemental_disease_name DISEASE_NAME:seizure_bilateral_tonic_clonic_seizure Seizure;Bilateral tonic-clonic seizure Supplemental_disease_name DISEASE_NAME:seizure_cachexia_severe_intellectual_disability_abnormal_pattern_of_respiration_strabismus Seizure;Cachexia;Severe intellectual disability;Abnormal pattern of respiration;Strabismus Supplemental_disease_name DISEASE_NAME:seizure_cavernous_hemangioma_cerebral_arteriovenous_malformation_hemiparesis Seizure;Cavernous hemangioma;Cerebral arteriovenous malformation;Hemiparesis Supplemental_disease_name DISEASE_NAME:seizure_chorea_progressive_encephalopathy Seizure;Chorea;Progressive encephalopathy Supplemental_disease_name DISEASE_NAME:seizure_cognitive_impairment_global_developmental_delay Seizure;Cognitive impairment;Global developmental delay Supplemental_disease_name DISEASE_NAME:seizure_delayed_fine_motor_development_severe_global_developmental_delay_gait_ataxia_focal_cortical_dysplasia Seizure;Delayed fine motor development;Severe global developmental delay;Gait ataxia;Focal cortical dysplasia Supplemental_disease_name DISEASE_NAME:seizure_dyskinesia Seizure;Dyskinesia Supplemental_disease_name DISEASE_NAME:seizure_eeg_with_temporal_focal_spikes_autistic_behavior Seizure;EEG with temporal focal spikes;Autistic behavior Supplemental_disease_name DISEASE_NAME:seizure_epileptic_encephalopathy Seizure;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:seizure_fatigue_abnormal_myelination Seizure;Fatigue;Abnormal myelination Supplemental_disease_name DISEASE_NAME:seizure_focal_segmental_glomerulosclerosis_neurodevelopmental_delay Seizure;Focal segmental glomerulosclerosis;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:seizure_global_developmental_delay Seizure;Global developmental delay Supplemental_disease_name DISEASE_NAME:seizure_global_developmental_delay_cerebellar_ataxia_autism_hypotonia Seizure;Global developmental delay;Cerebellar ataxia;Autism;Hypotonia Supplemental_disease_name DISEASE_NAME:seizure_global_developmental_delay_generalized_hypotonia Seizure;Global developmental delay;Generalized hypotonia Supplemental_disease_name DISEASE_NAME:seizure_global_developmental_delay_hypoglycemia Seizure;Global developmental delay;Hypoglycemia Supplemental_disease_name DISEASE_NAME:seizure_global_developmental_delay_hypotonia Seizure;Global developmental delay;Hypotonia Supplemental_disease_name DISEASE_NAME:seizure_infantile_spasms_epileptic_encephalopathy Seizure;Infantile spasms;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:seizure_intellectual_disability Seizure;Intellectual disability Supplemental_disease_name DISEASE_NAME:seizure_intellectual_disability_global_developmental_delay Seizure;Intellectual disability;Global developmental delay Supplemental_disease_name DISEASE_NAME:seizure_microcephaly_global_developmental_delay_delayed_gross_motor_development_delayed_speech_and_language_development Seizure;Microcephaly;Global developmental delay;Delayed gross motor development;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:seizure_mild_intellectual_disability Seizure;Mild intellectual disability Supplemental_disease_name DISEASE_NAME:seizure_moderate_intellectual_disability Seizure;Moderate intellectual disability Supplemental_disease_name DISEASE_NAME:seizure_multiple_renal_cysts_cortical_tubers Seizure;Multiple renal cysts;Cortical tubers Supplemental_disease_name DISEASE_NAME:seizure_neurodevelopmental_delay Seizure;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:seizure_neurodevelopmental_delay_focal_segmental_glomerulosclerosis Seizure;Neurodevelopmental delay;Focal segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:seizure_personality_changes_cognitive_impairment Seizure;Personality changes;Cognitive impairment Supplemental_disease_name DISEASE_NAME:seizure_severe_global_developmental_delay Seizure;Severe global developmental delay Supplemental_disease_name DISEASE_NAME:seizure_specific_learning_disability Seizure;Specific learning disability Supplemental_disease_name DISEASE_NAME:seizure_stroke_disorder Seizure;Stroke disorder Supplemental_disease_name DISEASE_NAME:seizures Seizures Supplemental_disease_name DISEASE_NAME:seizures_and_lactic_acidosis Seizures and lactic acidosis Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_2 Seizures, benign familial infantile, 2 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_2_episodic_kinesigenic_dyskinesia_1 Seizures, benign familial infantile, 2;Episodic kinesigenic dyskinesia 1 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_2_episodic_kinesigenic_dyskinesia_1_infantile_convulsions_and_choreoathetosis Seizures, benign familial infantile, 2;Episodic kinesigenic dyskinesia 1;Infantile convulsions and choreoathetosis Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_2_infantile_convulsions_and_choreoathetosis_episodic_kinesigenic_dyskinesia_1 Seizures, benign familial infantile, 2;Infantile convulsions and choreoathetosis;Episodic kinesigenic dyskinesia 1 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_3 Seizures, benign familial infantile, 3 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_3_autism_episodic_ataxia_type_9_developmental_and_epileptic_encephalopathy_76 Seizures, benign familial infantile, 3;Autism;Episodic ataxia, type 9;Developmental and epileptic encephalopathy, 76 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_3_developmental_and_epileptic_encephalopathy_11 Seizures, benign familial infantile, 3;Developmental and epileptic encephalopathy, 11 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_3_developmental_and_epileptic_encephalopathy_11_episodic_ataxia_type_9 Seizures, benign familial infantile, 3;Developmental and epileptic encephalopathy, 11;Episodic ataxia, type 9 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_3_episodic_ataxia_type_9 Seizures, benign familial infantile, 3;Episodic ataxia, type 9 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_3_episodic_ataxia_type_9_developmental_and_epileptic_encephalopathy_11 Seizures, benign familial infantile, 3;Episodic ataxia, type 9;Developmental and epileptic encephalopathy, 11 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_5 Seizures, benign familial infantile, 5 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_5_cognitive_impairment_with_or_without_cerebellar_ataxia_developmental_and_epileptic_encephalopathy_13 Seizures, benign familial infantile, 5;Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy, 13 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_5_cognitive_impairment_with_or_without_cerebellar_ataxia_myoclonus_familial_2_developmental_and_epileptic_encephalopathy_13 Seizures, benign familial infantile, 5;Cognitive impairment with or without cerebellar ataxia;Myoclonus, familial, 2;Developmental and epileptic encephalopathy, 13 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_5_developmental_and_epileptic_encephalopathy_13 Seizures, benign familial infantile, 5;Developmental and epileptic encephalopathy, 13 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_5_myoclonus_familial_2_cognitive_impairment_with_or_without_cerebellar_ataxia_developmental_and_epileptic_encephalopathy_13 Seizures, benign familial infantile, 5;Myoclonus, familial, 2;Cognitive impairment with or without cerebellar ataxia;Developmental and epileptic encephalopathy, 13 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_6 Seizures, benign familial infantile, 6 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_neonatal_1 Seizures, benign familial neonatal, 1 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_neonatal_1_and_or_myokymia Seizures, benign familial neonatal, 1, and/or myokymia Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_neonatal_1_developmental_and_epileptic_encephalopathy_7 Seizures, benign familial neonatal, 1;Developmental and epileptic encephalopathy, 7 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_neonatal_2 Seizures, benign familial neonatal, 2 Supplemental_disease_name DISEASE_NAME:seizures_early_onset_with_neurodegeneration_and_brain_calcifications Seizures, early-onset, with neurodegeneration and brain calcifications Supplemental_disease_name DISEASE_NAME:seizures_scoliosis_macrocephaly_syndrome Seizures-scoliosis-macrocephaly syndrome Supplemental_disease_name DISEASE_NAME:seizures_scoliosis_macrocephaly_syndrome_exostoses_multiple_type_2 Seizures-scoliosis-macrocephaly syndrome;Exostoses, multiple, type 2 Supplemental_disease_name DISEASE_NAME:selective_pituitary_resistance_to_thyroid_hormone_thyroid_hormone_resistance_generalized_autosomal_dominant_thyroid_hormone_resistance_generalized_autosomal_recessive Selective pituitary resistance to thyroid hormone;Thyroid hormone resistance, generalized, autosomal dominant;Thyroid hormone resistance, generalized, autosomal recessive Supplemental_disease_name DISEASE_NAME:selenbp1_related_disorder SELENBP1-related disorder Supplemental_disease_name DISEASE_NAME:selenoi_related_condition SELENOI-related condition Supplemental_disease_name DISEASE_NAME:selenon_related_disorder SELENON-related disorder Supplemental_disease_name DISEASE_NAME:selenon_related_myopathy SELENON-related myopathy Supplemental_disease_name DISEASE_NAME:self_limited_epilepsy_with_centrotemporal_spikes Self-limited epilepsy with centrotemporal spikes Supplemental_disease_name DISEASE_NAME:self_limited_familial_infantile_epilepsy Self-limited familial infantile epilepsy Supplemental_disease_name DISEASE_NAME:sellar_metastasis_from_primary_bronchial_carcinoid_tumor sellar metastasis from primary bronchial carcinoid tumor Supplemental_disease_name DISEASE_NAME:selp_polymorphism SELP POLYMORPHISM Supplemental_disease_name DISEASE_NAME:selp_related_disorder SELP-related disorder Supplemental_disease_name DISEASE_NAME:selplg_related_disorder SELPLG-related disorder Supplemental_disease_name DISEASE_NAME:sem1_related_disorder SEM1-related disorder Supplemental_disease_name DISEASE_NAME:sema3a_related_disorder SEMA3A-related disorder Supplemental_disease_name DISEASE_NAME:sema3b_related_disorder SEMA3B-related disorder Supplemental_disease_name DISEASE_NAME:sema3c_related_disorder SEMA3C-related disorder Supplemental_disease_name DISEASE_NAME:sema3d_related_disorder SEMA3D-related disorder Supplemental_disease_name DISEASE_NAME:sema3e_related_disorder SEMA3E-related disorder Supplemental_disease_name DISEASE_NAME:sema3f_related_disorder SEMA3F-related disorder Supplemental_disease_name DISEASE_NAME:sema3g_related_disorder SEMA3G-related disorder Supplemental_disease_name DISEASE_NAME:sema4a_related_disorder SEMA4A-related disorder Supplemental_disease_name DISEASE_NAME:sema4d_related_disorder SEMA4D-related disorder Supplemental_disease_name DISEASE_NAME:sema5a_associated_neurodevelopmental_syndrome SEMA5A-associated Neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:sema5a_related_disorder SEMA5A-related disorder Supplemental_disease_name DISEASE_NAME:sema6a_related_disorder SEMA6A-Related Disorder Supplemental_disease_name DISEASE_NAME:sema6b_related_disorder SEMA6B-related disorder Supplemental_disease_name DISEASE_NAME:sema6d_related_disorder SEMA6D-related disorder Supplemental_disease_name DISEASE_NAME:sema7a_related_disorder SEMA7A-related disorder Supplemental_disease_name DISEASE_NAME:semidominant_alpl_related_disorders Semidominant ALPL-related disorders Supplemental_disease_name DISEASE_NAME:semidominant_cfh_related_disorders semidominant CFH-related disorders Supplemental_disease_name DISEASE_NAME:semidominant_flg_related_disorders Semidominant FLG-related disorders Supplemental_disease_name DISEASE_NAME:semidominant_mfn2_related_disorders Semidominant MFN2-related disorders Supplemental_disease_name DISEASE_NAME:semilobar_holoprosencephaly Semilobar holoprosencephaly Supplemental_disease_name DISEASE_NAME:sengers_syndrome_cataract_38 Sengers syndrome;Cataract 38 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_1_joubert_syndrome_with_renal_defect_nephronophthisis_1 Senior-Loken syndrome 1;Joubert syndrome with renal defect;Nephronophthisis 1 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_1_nephronophthisis_1_joubert_syndrome_with_renal_defect Senior-Loken syndrome 1;Nephronophthisis 1;Joubert syndrome with renal defect Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_4_ciliopathy_nephronophthisis Senior-Loken syndrome 4;Ciliopathy;Nephronophthisis Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_4_nephronophthisis_4 Senior-Loken syndrome 4;Nephronophthisis 4 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_bardet_biedl_syndrome_14_joubert_syndrome_5_leber_congenital_amaurosis_10_meckel_syndrome_type_4 Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Joubert syndrome 5;Leber congenital amaurosis 10;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5 Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_joubert_syndrome_5 Senior-Loken syndrome 6;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_joubert_syndrome_5_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10_meckel_syndrome_type_4 Senior-Loken syndrome 6;Joubert syndrome 5;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_joubert_syndrome_5_bardet_biedl_syndrome_14_meckel_syndrome_type_4_leber_congenital_amaurosis_10 Senior-Loken syndrome 6;Joubert syndrome 5;Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_joubert_syndrome_5_meckel_syndrome_type_4_bardet_biedl_syndrome_14_leber_congenital_amaurosis_10 Senior-Loken syndrome 6;Joubert syndrome 5;Meckel syndrome, type 4;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_leber_congenital_amaurosis_10_bardet_biedl_syndrome_14_meckel_syndrome_type_4_joubert_syndrome_5 Senior-Loken syndrome 6;Leber congenital amaurosis 10;Bardet-Biedl syndrome 14;Meckel syndrome, type 4;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_leber_congenital_amaurosis_10_joubert_syndrome_5_bardet_biedl_syndrome_14_meckel_syndrome_type_4 Senior-Loken syndrome 6;Leber congenital amaurosis 10;Joubert syndrome 5;Bardet-Biedl syndrome 14;Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_leber_congenital_amaurosis_10_meckel_syndrome_type_4_bardet_biedl_syndrome_14_joubert_syndrome_5 Senior-Loken syndrome 6;Leber congenital amaurosis 10;Meckel syndrome, type 4;Bardet-Biedl syndrome 14;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5 Senior-Loken syndrome 6;Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_leber_congenital_amaurosis_10_meckel_syndrome_type_4_joubert_syndrome_5_bardet_biedl_syndrome_14 Senior-Loken syndrome 6;Leber congenital amaurosis 10;Meckel syndrome, type 4;Joubert syndrome 5;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_6_meckel_syndrome_type_4_joubert_syndrome_5_leber_congenital_amaurosis_10_bardet_biedl_syndrome_14 Senior-Loken syndrome 6;Meckel syndrome, type 4;Joubert syndrome 5;Leber congenital amaurosis 10;Bardet-Biedl syndrome 14 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_7_bardet_biedl_syndrome_16 Senior-Loken syndrome 7;Bardet-Biedl syndrome 16 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5 Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4_nephronophthisis_13_spermatogenic_failure_72 Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4;Nephronophthisis 13;Spermatogenic failure 72 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4_spermatogenic_failure_72_nephronophthisis_13 Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4;Spermatogenic failure 72;Nephronophthisis 13 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_nephronophthisis Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Nephronophthisis Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_cranioectodermal_dysplasia_4 Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Cranioectodermal dysplasia 4 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_cranioectodermal_dysplasia_4_spermatogenic_failure_72 Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Cranioectodermal dysplasia 4;Spermatogenic failure 72 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_spermatogenic_failure_72_cranioectodermal_dysplasia_4 Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Spermatogenic failure 72;Cranioectodermal dysplasia 4 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_cranioectodermal_dysplasia_4_spermatogenic_failure_72_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13 Senior-Loken syndrome 8;Cranioectodermal dysplasia 4;Spermatogenic failure 72;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_nephronophthisis_13_asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4_spermatogenic_failure_72 Senior-Loken syndrome 8;Nephronophthisis 13;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4;Spermatogenic failure 72 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_spermatogenic_failure_72_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_cranioectodermal_dysplasia_4 Senior-Loken syndrome 8;Spermatogenic failure 72;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Cranioectodermal dysplasia 4 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_spermatogenic_failure_72_cranioectodermal_dysplasia_4_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13 Senior-Loken syndrome 8;Spermatogenic failure 72;Cranioectodermal dysplasia 4;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13 Supplemental_disease_name DISEASE_NAME:senior_loken_syndrome_8_spermatogenic_failure_72_nephronophthisis_13_asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4 Senior-Loken syndrome 8;Spermatogenic failure 72;Nephronophthisis 13;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4 Supplemental_disease_name DISEASE_NAME:senp7_associated_disorder SENP7-associated disorder Supplemental_disease_name DISEASE_NAME:sensorimotor_axonal_polyneuropathy sensorimotor axonal polyneuropathy Supplemental_disease_name DISEASE_NAME:sensorimotor_neuropathy Sensorimotor neuropathy Supplemental_disease_name DISEASE_NAME:sensorineural_deafness_and_migraine Sensorineural deafness and migraine Supplemental_disease_name DISEASE_NAME:sensorineural_deafness_with_mild_renal_dysfunction Sensorineural deafness with mild renal dysfunction Supplemental_disease_name DISEASE_NAME:sensorineural_hearing_loss_disorder Sensorineural hearing loss disorder Supplemental_disease_name DISEASE_NAME:sensorineural_hearing_loss_disorder_cone_rod_dystrophy Sensorineural hearing loss disorder;Cone-rod dystrophy Supplemental_disease_name DISEASE_NAME:sensorineural_hearing_loss_disorder_foot_dorsiflexor_weakness_pes_planus_distal_muscle_weakness Sensorineural hearing loss disorder;Foot dorsiflexor weakness;Pes planus;Distal muscle weakness Supplemental_disease_name DISEASE_NAME:sensorineural_hearing_loss_disorder_intellectual_disability_seizure Sensorineural hearing loss disorder;Intellectual disability;Seizure Supplemental_disease_name DISEASE_NAME:sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_sclerosing_poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy Supplemental_disease_name DISEASE_NAME:sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_sclerosing_poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy Supplemental_disease_name DISEASE_NAME:sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_mitochondrial_dna_depletion_syndrome_4b_progressive_sclerosing_poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Mitochondrial DNA depletion syndrome 4b;Progressive sclerosing poliodystrophy Supplemental_disease_name DISEASE_NAME:sensory_ataxic_neuropathy_dysarthria_and_ophthalmoparesis_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1_progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_dominant_1_progressive_sclerosing_poliodystrophy_mitochondrial_dna_depletion_syndrome_4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b Supplemental_disease_name DISEASE_NAME:sensory_autonomic_neuropathy_with_intellectual_disability Sensory autonomic neuropathy with intellectual disability Supplemental_disease_name DISEASE_NAME:sensory_axonal_neuropathy Sensory axonal neuropathy Supplemental_disease_name DISEASE_NAME:sensory_neuropathy_abnormal_retinal_morphology Sensory neuropathy;Abnormal retinal morphology Supplemental_disease_name DISEASE_NAME:sephs1_related_developmental_delay SEPHS1-related developmental delay Supplemental_disease_name DISEASE_NAME:sephs1_related_disorder SEPHS1-related disorder Supplemental_disease_name DISEASE_NAME:sepn1_related_disorder SEPN1-related disorder Supplemental_disease_name DISEASE_NAME:sepsecs_related_disorder SEPSECS-related disorder Supplemental_disease_name DISEASE_NAME:sepsis Sepsis Supplemental_disease_name DISEASE_NAME:sepsis_associated_acute_kidney_injury Sepsis-associated acute kidney injury Supplemental_disease_name DISEASE_NAME:sepsis_induced_acute_kidney_injury Sepsis-induced acute kidney injury Supplemental_disease_name DISEASE_NAME:sepsis_susceptibility_to Sepsis, susceptibility to Supplemental_disease_name DISEASE_NAME:septin12_related_disorder SEPTIN12-related disorder Supplemental_disease_name DISEASE_NAME:septin6_related_disorder SEPTIN6-related disorder Supplemental_disease_name DISEASE_NAME:septin9_related_disorder SEPTIN9-related disorder Supplemental_disease_name DISEASE_NAME:septo_optic_dysplasia_sequence Septo-optic dysplasia sequence Supplemental_disease_name DISEASE_NAME:septo_optic_dysplasia_sequence_growth_hormone_deficiency_with_pituitary_anomalies Septo-optic dysplasia sequence;GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES Supplemental_disease_name DISEASE_NAME:septooptic_dysplasia_mild SEPTOOPTIC DYSPLASIA, MILD Supplemental_disease_name DISEASE_NAME:serac1_related_disorder SERAC1-related disorder Supplemental_disease_name DISEASE_NAME:serac1_related_neurological_disorder SERAC1-related neurological disorder Supplemental_disease_name DISEASE_NAME:serkal_syndrome SERKAL syndrome Supplemental_disease_name DISEASE_NAME:serkal_syndrome_mullerian_aplasia_and_hyperandrogenism SERKAL syndrome;Mullerian aplasia and hyperandrogenism Supplemental_disease_name DISEASE_NAME:serologic_weak_d_phenotype serologic weak D phenotype Supplemental_disease_name DISEASE_NAME:serotonin_transporter_activity_increased_decreased Serotonin transporter activity, increased/decreased Supplemental_disease_name DISEASE_NAME:serous_cystadenoma_endometrioid_carcinoma serous cystadenoma/endometrioid carcinoma Supplemental_disease_name DISEASE_NAME:serpentine_fibula_with_polycystic_kidney_disease_common_congenital_anomalies_of_the_kidney_and_urinary_tract_cakut_melnick_fraser_syndrome Serpentine fibula with polycystic kidney disease;common Congenital Anomalies of the Kidney and Urinary Tract (CAKUT);Melnick-Fraser syndrome Supplemental_disease_name DISEASE_NAME:serpina1_related_disorder SERPINA1-related disorder Supplemental_disease_name DISEASE_NAME:serpina3_related_disorder SERPINA3-related disorder Supplemental_disease_name DISEASE_NAME:serpina6_related_disorder SERPINA6-related disorder Supplemental_disease_name DISEASE_NAME:serpina7_related_disorder SERPINA7-related disorder Supplemental_disease_name DISEASE_NAME:serpinb6_related_disorder SERPINB6-related disorder Supplemental_disease_name DISEASE_NAME:serpinb7_related_disorder SERPINB7-related disorder Supplemental_disease_name DISEASE_NAME:serpinb8_related_disorder SERPINB8-related disorder Supplemental_disease_name DISEASE_NAME:serpinc1_related_disorder SERPINC1-related disorder Supplemental_disease_name DISEASE_NAME:serpind1_related_disorder SERPIND1-related disorder Supplemental_disease_name DISEASE_NAME:serpine1_related_disorder SERPINE1-related disorder Supplemental_disease_name DISEASE_NAME:serpinf1_related_disorder SERPINF1-related disorder Supplemental_disease_name DISEASE_NAME:serpinf2_related_disorder SERPINF2-related disorder Supplemental_disease_name DISEASE_NAME:serping1_related_disorder SERPING1-related disorder Supplemental_disease_name DISEASE_NAME:serpinh1_related_disorder SERPINH1-related disorder Supplemental_disease_name DISEASE_NAME:serpini1_related_disorder SERPINI1-related disorder Supplemental_disease_name DISEASE_NAME:serum_calcium_level Serum calcium level Supplemental_disease_name DISEASE_NAME:serum_hdl_cholesterol_level_modifier_of SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF Supplemental_disease_name DISEASE_NAME:serum_phosphorus_normal_or_mildly_elevated Serum phosphorus normal or mildly elevated Supplemental_disease_name DISEASE_NAME:sesame_like_syndrome SeSAME-like syndrome Supplemental_disease_name DISEASE_NAME:sessile_serrated_polyposis_cancer_syndrome Sessile serrated polyposis cancer syndrome Supplemental_disease_name DISEASE_NAME:set_related_disorder SET-related disorder Supplemental_disease_name DISEASE_NAME:setbp1_related_disorder SETBP1-related disorder Supplemental_disease_name DISEASE_NAME:setd1a_related_disorder SETD1A-related disorder Supplemental_disease_name DISEASE_NAME:setd1b_associated_disorder SETD1B-associated disorder Supplemental_disease_name DISEASE_NAME:setd1b_related_disorder SETD1B-related disorder Supplemental_disease_name DISEASE_NAME:setd1b_related_neurodevelopmental_disorder SETD1B-Related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:setd2_associated_neurodevelopmental_disorder_with_multiple_congenital_anomalies SETD2 associated neurodevelopmental disorder with multiple congenital anomalies Supplemental_disease_name DISEASE_NAME:setd2_related_disorder SETD2-related disorder Supplemental_disease_name DISEASE_NAME:setd2_related_neurodevelopmental_disorder_without_or_with_macrocephaly_overgrowth SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth Supplemental_disease_name DISEASE_NAME:setd5_related_disorder SETD5-related disorder Supplemental_disease_name DISEASE_NAME:setd5_related_syndromic_intellectual_disability SETD5-related syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:setx_related_disorder SETX-related disorder Supplemental_disease_name DISEASE_NAME:severe_achondroplasia_developmental_delay_acanthosis_nigricans_syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_negative_due_to_adenosine_deaminase_deficiency Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_due_to_partial_rag1_deficiency_combined_immunodeficiency_with_skin_granulomas_histiocytic_medullary_reticulosis Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency due to partial RAG1 deficiency;Combined immunodeficiency with skin granulomas;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_with_skin_granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency with skin granulomas Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_with_skin_granulomas_combined_immunodeficiency_due_to_partial_rag1_deficiency_histiocytic_medullary_reticulosis Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency with skin granulomas;Combined immunodeficiency due to partial RAG1 deficiency;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_with_skin_granulomas_histiocytic_medullary_reticulosis Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency with skin granulomas;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_combined_immunodeficiency_with_skin_granulomas_histiocytic_medullary_reticulosis_combined_immunodeficiency_due_to_partial_rag1_deficiency Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency with skin granulomas;Histiocytic medullary reticulosis;Combined immunodeficiency due to partial RAG1 deficiency Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_histiocytic_medullary_reticulosis Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_histiocytic_medullary_reticulosis_combined_immunodeficiency_with_skin_granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Histiocytic medullary reticulosis;Combined immunodeficiency with skin granulomas Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_histiocytic_medullary_reticulosis_combined_immunodeficiency_with_skin_granulomas_combined_immunodeficiency_due_to_partial_rag1_deficiency Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Histiocytic medullary reticulosis;Combined immunodeficiency with skin granulomas;Combined immunodeficiency due to partial RAG1 deficiency Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_recombinase_activating_gene_2_deficiency_inborn_error_of_immunity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Recombinase activating gene 2 deficiency;Inborn error of immunity Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_autosomal_recessive_t_cell_negative_b_cell_negative_nk_cell_positive_recombinase_activating_gene_2_deficiency_inborn_error_of_immunity_histiocytic_medullary_reticulosis Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Recombinase activating gene 2 deficiency;Inborn error of immunity;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_b_cell_negative Severe combined immunodeficiency, B cell-negative Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_disease Severe combined immunodeficiency disease Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_due_to_card11_deficiency_benta_disease Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_due_to_card11_deficiency_benta_disease_immunodeficiency_11b_with_atopic_dermatitis Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease;Immunodeficiency 11b with atopic dermatitis Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_due_to_card11_deficiency_immunodeficiency_11b_with_atopic_dermatitis Severe combined immunodeficiency due to CARD11 deficiency;Immunodeficiency 11b with atopic dermatitis Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_due_to_card11_deficiency_immunodeficiency_11b_with_atopic_dermatitis_benta_disease Severe combined immunodeficiency due to CARD11 deficiency;Immunodeficiency 11b with atopic dermatitis;BENTA disease Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_due_to_cd70_deficiency Severe combined immunodeficiency due to CD70 deficiency Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_due_to_coro1a_deficiency Severe combined immunodeficiency due to CORO1A deficiency Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_due_to_dclre1c_deficiency_histiocytic_medullary_reticulosis Severe combined immunodeficiency due to DCLRE1C deficiency;Histiocytic medullary reticulosis Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_due_to_ikk2_deficiency Severe combined immunodeficiency due to IKK2 deficiency Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_due_to_ikk2_deficiency_immunodeficiency_15a Severe combined immunodeficiency due to IKK2 deficiency;Immunodeficiency 15a Supplemental_disease_name DISEASE_NAME:severe_combined_immunodeficiency_partial Severe combined immunodeficiency, partial Supplemental_disease_name DISEASE_NAME:severe_congenital_hypochromic_anemia_with_ringed_sideroblasts Severe congenital hypochromic anemia with ringed sideroblasts Supplemental_disease_name DISEASE_NAME:severe_cystic_degeneration_of_the_brain_infantile_epilepsy Severe cystic degeneration of the brain;Infantile epilepsy Supplemental_disease_name DISEASE_NAME:severe_dermatitis_multiple_allergies_metabolic_wasting_syndrome Severe dermatitis-multiple allergies-metabolic wasting syndrome Supplemental_disease_name DISEASE_NAME:severe_dermatitis_multiple_allergies_metabolic_wasting_syndrome_palmoplantar_keratoderma_i_striate_focal_or_diffuse Severe dermatitis-multiple allergies-metabolic wasting syndrome;Palmoplantar keratoderma i, striate, focal, or diffuse Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy_age_related_macular_degeneration_2_cone_rod_dystrophy_3_retinitis_pigmentosa_19 Severe early-childhood-onset retinal dystrophy;Age related macular degeneration 2;Cone-rod dystrophy 3;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy_age_related_macular_degeneration_2_retinitis_pigmentosa_19_cone_rod_dystrophy_3 Severe early-childhood-onset retinal dystrophy;Age related macular degeneration 2;Retinitis pigmentosa 19;Cone-rod dystrophy 3 Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy_cone_rod_dystrophy_3 Severe early-childhood-onset retinal dystrophy;Cone-rod dystrophy 3 Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy_cone_rod_dystrophy_3_age_related_macular_degeneration_2_retinitis_pigmentosa_19 Severe early-childhood-onset retinal dystrophy;Cone-rod dystrophy 3;Age related macular degeneration 2;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy_cone_rod_dystrophy_3_retinitis_pigmentosa_19 Severe early-childhood-onset retinal dystrophy;Cone-rod dystrophy 3;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy_cone_rod_dystrophy_3_retinitis_pigmentosa_19_age_related_macular_degeneration_2 Severe early-childhood-onset retinal dystrophy;Cone-rod dystrophy 3;Retinitis pigmentosa 19;Age related macular degeneration 2 Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy_retinitis_pigmentosa_19 Severe early-childhood-onset retinal dystrophy;Retinitis pigmentosa 19 Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy_retinitis_pigmentosa_19_cone_rod_dystrophy_3 Severe early-childhood-onset retinal dystrophy;Retinitis pigmentosa 19;Cone-rod dystrophy 3 Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy_retinitis_pigmentosa_19_cone_rod_dystrophy_3_age_related_macular_degeneration_2 Severe early-childhood-onset retinal dystrophy;Retinitis pigmentosa 19;Cone-rod dystrophy 3;Age related macular degeneration 2 Supplemental_disease_name DISEASE_NAME:severe_early_onset_obesity_albright_hereditary_osteodystrophy_pseudohypoparathyroidism_pseudopseudohypoparathyroidism_acrodysostosis_and_osteoma_cutis Severe early-onset obesity, Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis Supplemental_disease_name DISEASE_NAME:severe_early_onset_obesity_insulin_resistance_syndrome_due_to_sh2b1_deficiency Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Supplemental_disease_name DISEASE_NAME:severe_early_onset_pulmonary_alveolar_proteinosis_due_to_mars_deficiency Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Supplemental_disease_name DISEASE_NAME:severe_early_onset_pulmonary_alveolar_proteinosis_due_to_mars_deficiency_charcot_marie_tooth_disease_axonal_type_2u Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Charcot-Marie-Tooth disease axonal type 2U Supplemental_disease_name DISEASE_NAME:severe_feeding_difficulties_failure_to_thrive_microcephaly_due_to_asxl3_deficiency_syndrome Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay Severe global developmental delay Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay_autistic_behavior Severe global developmental delay;Autistic behavior Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay_cataract_microcephaly Severe global developmental delay;Cataract;Microcephaly Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay_delayed_speech_and_language_development Severe global developmental delay;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay_dysphagia_seizure_microcephaly Severe global developmental delay;Dysphagia;Seizure;Microcephaly Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay_generalized_hypotonia_epileptic_encephalopathy Severe global developmental delay;Generalized hypotonia;Epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay_inability_to_walk_seizure_blindness_absent_speech Severe global developmental delay;Inability to walk;Seizure;Blindness;Absent speech Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay_microcephaly Severe global developmental delay;Microcephaly Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay_penile_hypospadias_micropenis_abnormality_of_the_skeletal_system_failure_to_thrive Severe global developmental delay;Penile hypospadias;Micropenis;Abnormality of the skeletal system;Failure to thrive Supplemental_disease_name DISEASE_NAME:severe_global_developmental_delay_seizure Severe global developmental delay;Seizure Supplemental_disease_name DISEASE_NAME:severe_growth_deficiency_strabismus_extensive_dermal_melanocytosis_intellectual_disability_syndrome Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:severe_growth_deficiency_strabismus_extensive_dermal_melanocytosis_intellectual_disability_syndrome_genetic_syndrome_with_a_dandy_walker_malformation_as_major_feature Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome;Genetic syndrome with a Dandy-Walker malformation as major feature Supplemental_disease_name DISEASE_NAME:severe_hemophilia_a Severe hemophilia A Supplemental_disease_name DISEASE_NAME:severe_hydrocephalus Severe hydrocephalus Supplemental_disease_name DISEASE_NAME:severe_hydrocephalus_abnormal_cerebellum_morphology Severe hydrocephalus;Abnormal cerebellum morphology Supplemental_disease_name DISEASE_NAME:severe_hydrocephalus_arthrogryposis_multiplex_congenita_clubfoot Severe hydrocephalus;Arthrogryposis multiplex congenita;Clubfoot Supplemental_disease_name DISEASE_NAME:severe_hydrocephalus_encephalocele Severe hydrocephalus;Encephalocele Supplemental_disease_name DISEASE_NAME:severe_hydrocephalus_holoprosencephaly_sequence Severe hydrocephalus;Holoprosencephaly sequence Supplemental_disease_name DISEASE_NAME:severe_hydrocephalus_neonatal_death Severe hydrocephalus;Neonatal death Supplemental_disease_name DISEASE_NAME:severe_hypotonia_psychomotor_developmental_delay_strabismus_cardiac_septal_defect_syndrome Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Supplemental_disease_name DISEASE_NAME:severe_intellectual_deficiency Severe intellectual deficiency Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability Severe intellectual disability Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability_abnormal_facial_shape_seizure Severe intellectual disability;Abnormal facial shape;Seizure Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability_cataract_microcephaly Severe intellectual disability;Cataract;Microcephaly Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability_corpus_callosum_agenesis_facial_dysmorphism_cerebellar_ataxia_syndrome Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability_immunodeficiency_cataract_microcephaly Severe intellectual disability;Immunodeficiency;Cataract;Microcephaly Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability_infantile_spasms Severe intellectual disability;Infantile spasms Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability_poor_language_strabismus_grimacing_face_long_fingers_syndrome Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability_progressive_spastic_diplegia_syndrome Severe intellectual disability-progressive spastic diplegia syndrome Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability_severe_global_developmental_delay_seizure_tremor_self_injurious_behavior Severe intellectual disability;Severe global developmental delay;Seizure;Tremor;Self-injurious behavior Supplemental_disease_name DISEASE_NAME:severe_intellectual_disability_short_stature_behavioral_abnormalities_facial_dysmorphism_syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:severe_intrauterine_growth_retardation Severe intrauterine growth retardation Supplemental_disease_name DISEASE_NAME:severe_lactic_acidosis Severe lactic acidosis Supplemental_disease_name DISEASE_NAME:severe_microlissencephaly_exaggerated_startle_response Severe microlissencephaly;Exaggerated startle response Supplemental_disease_name DISEASE_NAME:severe_motor_and_intellectual_disabilities_sensorineural_deafness_dystonia_syndrome_adrenoleukodystrophy Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome;Adrenoleukodystrophy Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy Severe myoclonic epilepsy Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy Severe myoclonic epilepsy in infancy Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_acute_encephalopathy Severe myoclonic epilepsy in infancy;Acute encephalopathy Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2 Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2_febrile_seizures_familial_3a Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2;Febrile seizures, familial, 3a Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b_generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3 Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B;Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_developmental_and_epileptic_encephalopathy_6b_migraine_familial_hemiplegic_3_generalized_epilepsy_with_febrile_seizures_plus_type_2 Severe myoclonic epilepsy in infancy;Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_epilepsy Severe myoclonic epilepsy in infancy;Epilepsy Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2_developmental_and_epileptic_encephalopathy_6b Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2_developmental_and_epileptic_encephalopathy_6b_migraine_familial_hemiplegic_3 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B;Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3 Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3 Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_generalized_epilepsy_with_febrile_seizures_plus_type_2_migraine_familial_hemiplegic_3_developmental_and_epileptic_encephalopathy_6b Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 2;Migraine, familial hemiplegic, 3;Developmental and epileptic encephalopathy 6B Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_migraine_familial_hemiplegic_3_generalized_epilepsy_with_febrile_seizures_plus_type_2 Severe myoclonic epilepsy in infancy;Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2 Supplemental_disease_name DISEASE_NAME:severe_myoclonic_epilepsy_in_infancy_migraine_familial_hemiplegic_3_generalized_epilepsy_with_febrile_seizures_plus_type_2_developmental_and_epileptic_encephalopathy_6b Severe myoclonic epilepsy in infancy;Migraine, familial hemiplegic, 3;Generalized epilepsy with febrile seizures plus, type 2;Developmental and epileptic encephalopathy 6B Supplemental_disease_name DISEASE_NAME:severe_ndd Severe NDD Supplemental_disease_name DISEASE_NAME:severe_ndd_epilepsy Severe NDD, epilepsy Supplemental_disease_name DISEASE_NAME:severe_neonatal_hypotonia_improving_with_age Severe neonatal hypotonia improving with age Supplemental_disease_name DISEASE_NAME:severe_neonatal_onset_encephalopathy_with_microcephaly_autism_susceptibility_to_x_linked_3_syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Severe neonatal-onset encephalopathy with microcephaly;Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;Rett syndrome;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:severe_neonatal_onset_encephalopathy_with_microcephaly_autism_susceptibility_to_x_linked_3_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_rett_syndrome_syndromic_x_linked_intellectual_disability_lubs_type Severe neonatal-onset encephalopathy with microcephaly;Autism, susceptibility to, X-linked 3;X-linked intellectual disability-psychosis-macroorchidism syndrome;Rett syndrome;Syndromic X-linked intellectual disability Lubs type Supplemental_disease_name DISEASE_NAME:severe_neonatal_onset_encephalopathy_with_microcephaly_rett_syndrome_syndromic_x_linked_intellectual_disability_lubs_type_autism_susceptibility_to_x_linked_3_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Severe neonatal-onset encephalopathy with microcephaly;Rett syndrome;Syndromic X-linked intellectual disability Lubs type;Autism, susceptibility to, X-linked 3;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:severe_neonatal_onset_encephalopathy_with_microcephaly_syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_autism_susceptibility_to_x_linked_3_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;Rett syndrome;Autism, susceptibility to, X-linked 3;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:severe_neonatal_onset_encephalopathy_with_microcephaly_syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_autism_susceptibility_to_x_linked_3 Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;Rett syndrome;X-linked intellectual disability-psychosis-macroorchidism syndrome;Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:severe_neonatal_onset_encephalopathy_with_microcephaly_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_autism_susceptibility_to_x_linked_3 Severe neonatal-onset encephalopathy with microcephaly;X-linked intellectual disability-psychosis-macroorchidism syndrome;Syndromic X-linked intellectual disability Lubs type;Rett syndrome;Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:severe_neurodegenerative_syndrome_with_lipodystrophy Severe neurodegenerative syndrome with lipodystrophy Supplemental_disease_name DISEASE_NAME:severe_neurodegenerative_syndrome_with_lipodystrophy_congenital_generalized_lipodystrophy_type_2 Severe neurodegenerative syndrome with lipodystrophy;Congenital generalized lipodystrophy type 2 Supplemental_disease_name DISEASE_NAME:severe_neurodegenerative_syndrome_with_lipodystrophy_congenital_generalized_lipodystrophy_type_2_hereditary_spastic_paraplegia_17_neuronopathy_distal_hereditary_motor_type_5c Severe neurodegenerative syndrome with lipodystrophy;Congenital generalized lipodystrophy type 2;Hereditary spastic paraplegia 17;Neuronopathy, distal hereditary motor, type 5C Supplemental_disease_name DISEASE_NAME:severe_neurodegenerative_syndrome_with_lipodystrophy_congenital_generalized_lipodystrophy_type_2_neuronopathy_distal_hereditary_motor_type_5c_hereditary_spastic_paraplegia_17 Severe neurodegenerative syndrome with lipodystrophy;Congenital generalized lipodystrophy type 2;Neuronopathy, distal hereditary motor, type 5C;Hereditary spastic paraplegia 17 Supplemental_disease_name DISEASE_NAME:severe_neurodevelopmental_delay Severe neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:severe_osteopetrosis Severe osteopetrosis Supplemental_disease_name DISEASE_NAME:severe_photosensitivity_macular_dystrophy_adult_onset_night_blindness Severe photosensitivity;Macular dystrophy;Adult-onset night blindness Supplemental_disease_name DISEASE_NAME:severe_postnatal_growth_retardation Severe postnatal growth retardation Supplemental_disease_name DISEASE_NAME:severe_postnatal_growth_retardation_synostosis_involving_bones_of_the_lower_limbs Severe postnatal growth retardation;Synostosis involving bones of the lower limbs Supplemental_disease_name DISEASE_NAME:severe_progressive_deforming_recessive_osteogenesis_imperfecta_type_iii Severe progressive deforming recessive osteogenesis imperfecta (type III) Supplemental_disease_name DISEASE_NAME:severe_sars_cov_2_infection_susceptibility_to Severe SARS-CoV-2 infection, susceptibility to Supplemental_disease_name DISEASE_NAME:severe_sensorineural_hearing_impairment Severe sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:severe_sensorineural_hearing_impairment_lower_limb_asymmetry_upper_limb_asymmetry Severe sensorineural hearing impairment;Lower limb asymmetry;Upper limb asymmetry Supplemental_disease_name DISEASE_NAME:severe_short_limb_dwarfism Severe short-limb dwarfism Supplemental_disease_name DISEASE_NAME:severe_short_stature Severe short stature Supplemental_disease_name DISEASE_NAME:severe_underweight_in_infancy_childhood_and_adolescence_microcephaly_intellectual_disability_psychomotor_retardation Severe underweight in infancy childhood and adolescence;Microcephaly;Intellectual disability;Psychomotor retardation Supplemental_disease_name DISEASE_NAME:severe_x_linked_intellectual_disability_gustavson_type Severe X-linked intellectual disability, Gustavson type Supplemental_disease_name DISEASE_NAME:severe_x_linked_mitochondrial_encephalomyopathy_charcot_marie_tooth_disease_x_linked_recessive_4 Severe X-linked mitochondrial encephalomyopathy;Charcot-Marie-Tooth disease X-linked recessive 4 Supplemental_disease_name DISEASE_NAME:severe_x_linked_mitochondrial_encephalomyopathy_charcot_marie_tooth_disease_x_linked_recessive_4_deafness_x_linked_5_spondyloepimetaphyseal_dysplasia_bieganski_type Severe X-linked mitochondrial encephalomyopathy;Charcot-Marie-Tooth disease X-linked recessive 4;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, Bieganski type Supplemental_disease_name DISEASE_NAME:severe_x_linked_mitochondrial_encephalomyopathy_spondyloepimetaphyseal_dysplasia_bieganski_type_charcot_marie_tooth_disease_x_linked_recessive_4_deafness_x_linked_5 Severe X-linked mitochondrial encephalomyopathy;Spondyloepimetaphyseal dysplasia, Bieganski type;Charcot-Marie-Tooth disease X-linked recessive 4;Deafness, X-linked 5 Supplemental_disease_name DISEASE_NAME:severe_x_linked_myotubular_myopathy Severe X-linked myotubular myopathy Supplemental_disease_name DISEASE_NAME:severely_weakened_expression_of_a_on_erythrocytes Severely weakened expression of A on erythrocytes Supplemental_disease_name DISEASE_NAME:sevoflurane_response_toxicity sevoflurane response - Toxicity Supplemental_disease_name DISEASE_NAME:sex_cord_stromal_tumor Sex cord-stromal tumor Supplemental_disease_name DISEASE_NAME:sex_hormone_binding_globulin_deficiency Sex Hormone-Binding Globulin Deficiency Supplemental_disease_name DISEASE_NAME:sex_reversal Sex reversal Supplemental_disease_name DISEASE_NAME:sf1_associated_neurodevelopmental_disorder SF1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:sf1_related_neurodevelopmental_disorder SF1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:sf3b1_related_disorder SF3B1-related disorder Supplemental_disease_name DISEASE_NAME:sf3b2_related_disorder SF3B2-related disorder Supplemental_disease_name DISEASE_NAME:sf3b4_related_acrofacial_dysostosis SF3B4-related acrofacial dysostosis Supplemental_disease_name DISEASE_NAME:sf3b4_related_disorder SF3B4-related disorder Supplemental_disease_name DISEASE_NAME:sfrp4_related_disorder SFRP4-related disorder Supplemental_disease_name DISEASE_NAME:sftpa1_related_disorder SFTPA1-related disorder Supplemental_disease_name DISEASE_NAME:sftpa2_related_disorder SFTPA2-related disorder Supplemental_disease_name DISEASE_NAME:sftpb_related_disorder SFTPB-related disorder Supplemental_disease_name DISEASE_NAME:sftpc_related_disorder SFTPC-related disorder Supplemental_disease_name DISEASE_NAME:sftpd_related_disorder SFTPD-related disorder Supplemental_disease_name DISEASE_NAME:sfxn4_related_disorder SFXN4-related disorder Supplemental_disease_name DISEASE_NAME:sgca_related_disorder SGCA-related disorder Supplemental_disease_name DISEASE_NAME:sgcb_related_disorder SGCB-related disorder Supplemental_disease_name DISEASE_NAME:sgcd_related_disorder SGCD-related disorder Supplemental_disease_name DISEASE_NAME:sgce_related_disorder SGCE-related disorder Supplemental_disease_name DISEASE_NAME:sgcg_related_congenital_myopathy SGCG-related congenital myopathy Supplemental_disease_name DISEASE_NAME:sgcg_related_disorder SGCG-related disorder Supplemental_disease_name DISEASE_NAME:sgms2_related_disorder SGMS2-related disorder Supplemental_disease_name DISEASE_NAME:sgo1_related_disorder SGO1-related disorder Supplemental_disease_name DISEASE_NAME:sgpl1_related_disorder SGPL1-related disorder Supplemental_disease_name DISEASE_NAME:sgsh_related_disorder SGSH-related disorder Supplemental_disease_name DISEASE_NAME:sgsm3_related_intellectual_disability SGSM3-related intellectual disability Supplemental_disease_name DISEASE_NAME:sh2b1_associated_disorder SH2B1-associated disorder Supplemental_disease_name DISEASE_NAME:sh2b1_associated_obesity SH2B1-associated obesity Supplemental_disease_name DISEASE_NAME:sh2b1_related_disorder SH2B1-related disorder Supplemental_disease_name DISEASE_NAME:sh2b3_related_disorder SH2B3-related disorder Supplemental_disease_name DISEASE_NAME:sh2d1a_related_disorder SH2D1A-related disorder Supplemental_disease_name DISEASE_NAME:sh3bp2_related_disorder SH3BP2-related disorder Supplemental_disease_name DISEASE_NAME:sh3d19_related_disorder SH3D19-related disorder Supplemental_disease_name DISEASE_NAME:sh3kbp1_related_disorder SH3KBP1-related disorder Supplemental_disease_name DISEASE_NAME:sh3pxd2b_related_disorder SH3PXD2B-related disorder Supplemental_disease_name DISEASE_NAME:sh3tc2_related_disorder SH3TC2-related disorder Supplemental_disease_name DISEASE_NAME:shank1_associated_disorder SHANK1-associated disorder Supplemental_disease_name DISEASE_NAME:shank1_associated_neurodevelopmental_disorder SHANK1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:shank1_related_autism SHANK1-related autism Supplemental_disease_name DISEASE_NAME:shank1_related_disorder SHANK1-related disorder Supplemental_disease_name DISEASE_NAME:shank1_related_neurodevelopmental_disorder SHANK1-related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:shank2_related_complex_neurodevelopmental_disorder SHANK2-related Complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:shank2_related_disorder SHANK2-related disorder Supplemental_disease_name DISEASE_NAME:shank3_related_disorder SHANK3-related disorder Supplemental_disease_name DISEASE_NAME:sharpin_related_autoinflammatory_syndrome Sharpin-related autoinflammatory syndrome Supplemental_disease_name DISEASE_NAME:shashi_pena_syndrome Shashi-Pena syndrome Supplemental_disease_name DISEASE_NAME:shbg_related_disorder SHBG-related disorder Supplemental_disease_name DISEASE_NAME:shh_related_disorder SHH-related disorder Supplemental_disease_name DISEASE_NAME:shmt2_related_disorder SHMT2-related disorder Supplemental_disease_name DISEASE_NAME:shoc1_related_condition SHOC1-related condition Supplemental_disease_name DISEASE_NAME:shoc2_related_disorder SHOC2-related disorder Supplemental_disease_name DISEASE_NAME:shone_complex Shone complex Supplemental_disease_name DISEASE_NAME:short_branched_chain_acyl_coa_dehydrogenase_deficiency Short/branched-chain acyl-CoA dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:short_fetal_femur_length Short fetal femur length Supplemental_disease_name DISEASE_NAME:short_limb_skeletal_dysplasia_with_severe_combined_immunodeficiency Short-limb skeletal dysplasia with severe combined immunodeficiency Supplemental_disease_name DISEASE_NAME:short_long_bone_thickened_nuchal_skin_fold_abnormal_heart_morphology_cystic_hygroma Short long bone;Thickened nuchal skin fold;Abnormal heart morphology;Cystic hygroma Supplemental_disease_name DISEASE_NAME:short_nose Short nose Supplemental_disease_name DISEASE_NAME:short_nose_hydronephrosis Short nose;Hydronephrosis Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_4 Short QT Syndrome 4 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_5 Short QT Syndrome 5 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_7 Short QT syndrome 7 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_1 Short QT syndrome type 1 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_1_long_qt_syndrome_2 Short QT syndrome type 1;Long QT syndrome 2 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_2 Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_2_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1 Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_2_atrial_fibrillation_familial_3_jervell_and_lange_nielsen_syndrome_1_long_qt_syndrome_1 Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_2_atrial_fibrillation_familial_3_jervell_and_lange_nielsen_syndrome_1_long_qt_syndrome_1_beckwith_wiedemann_syndrome Short QT syndrome type 2;Atrial fibrillation, familial, 3;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1;Beckwith-Wiedemann syndrome Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_2_jervell_and_lange_nielsen_syndrome_1_atrial_fibrillation_familial_3_long_qt_syndrome_1 Short QT syndrome type 2;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_2_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1_atrial_fibrillation_familial_3_beckwith_wiedemann_syndrome Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_2_long_qt_syndrome_1_jervell_and_lange_nielsen_syndrome_1_beckwith_wiedemann_syndrome_atrial_fibrillation_familial_3 Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Atrial fibrillation, familial, 3 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_3 Short QT syndrome type 3 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_3_andersen_tawil_syndrome Short QT syndrome type 3;Andersen Tawil syndrome Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_3_andersen_tawil_syndrome_atrial_fibrillation_familial_9 Short QT syndrome type 3;Andersen Tawil syndrome;Atrial fibrillation, familial, 9 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_3_atrial_fibrillation_familial_9_andersen_tawil_syndrome Short QT syndrome type 3;Atrial fibrillation, familial, 9;Andersen Tawil syndrome Supplemental_disease_name DISEASE_NAME:short_rib_polydactyly_syndrome Short-rib polydactyly syndrome Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia Short-rib thoracic dysplasia Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_10_with_or_without_polydactyly_bardet_biedl_syndrome_20 Short-rib thoracic dysplasia 10 with or without polydactyly;Bardet-Biedl syndrome 20 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_10_with_or_without_polydactyly_bardet_biedl_syndrome_20_retinitis_pigmentosa_71 Short-rib thoracic dysplasia 10 with or without polydactyly;Bardet-Biedl syndrome 20;Retinitis pigmentosa 71 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_10_with_or_without_polydactyly_retinitis_pigmentosa_71 Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_10_with_or_without_polydactyly_retinitis_pigmentosa_71_bardet_biedl_syndrome_20 Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71;Bardet-Biedl syndrome 20 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_10_with_polydactyly Short-rib thoracic dysplasia 10 with polydactyly Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_10_without_polydactyly Short-rib thoracic dysplasia 10 without polydactyly Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_13_with_or_without_polydactyly_joubert_syndrome_31 Short-rib thoracic dysplasia 13 with or without polydactyly;Joubert syndrome 31 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_14_with_polydactyly_joubert_syndrome_23 Short-rib thoracic dysplasia 14 with polydactyly;Joubert syndrome 23 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_15_with_polydactyly Short-rib thoracic dysplasia 15 with polydactyly Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_16_with_or_without_polydactyly Short-rib thoracic dysplasia 16 with or without polydactyly Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_17_with_or_without_polydactyly Short-rib thoracic dysplasia 17 with or without polydactyly Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_18_with_polydactyly_retinitis_pigmentosa_81_cranioectodermal_dysplasia_3 Short-rib thoracic dysplasia 18 with polydactyly;Retinitis pigmentosa 81;Cranioectodermal dysplasia 3 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_19_without_polydactyly SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_20_with_polydactyly Short-rib thoracic dysplasia 20 with polydactyly Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_20_with_polydactyly_orofaciodigital_syndrome_17 Short-rib thoracic dysplasia 20 with polydactyly;Orofaciodigital syndrome 17 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_21_without_polydactyly Short-rib thoracic dysplasia 21 without polydactyly Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_21_without_polydactyly_joubert_syndrome_38_orofaciodigital_syndrome_xv Short-rib thoracic dysplasia 21 without polydactyly;Joubert syndrome 38;Orofaciodigital syndrome XV Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_21_without_polydactyly_orofaciodigital_syndrome_xv Short-rib thoracic dysplasia 21 without polydactyly;Orofaciodigital syndrome XV Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_21_without_polydactyly_orofaciodigital_syndrome_xv_joubert_syndrome_38 Short-rib thoracic dysplasia 21 without polydactyly;Orofaciodigital syndrome XV;Joubert syndrome 38 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_22_without_polydactyly Short-rib thoracic dysplasia 22 without polydactyly Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_4_with_polydactyly SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_6_with_or_without_polydactyly_amyotrophic_lateral_sclerosis_susceptibility_to_24 Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis, susceptibility to, 24 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_6_with_or_without_polydactyly_amyotrophic_lateral_sclerosis_susceptibility_to_24_mohr_syndrome Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis, susceptibility to, 24;Mohr syndrome Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_7_20_with_polydactyly_digenic Short-rib thoracic dysplasia 7/20 with polydactyly, digenic Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_7_with_or_without_polydactyly_cranioectodermal_dysplasia_2 Short-rib thoracic dysplasia 7 with or without polydactyly;Cranioectodermal dysplasia 2 Supplemental_disease_name DISEASE_NAME:short_rib_thoracic_dysplasia_7_without_polydactyly SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY Supplemental_disease_name DISEASE_NAME:short_ribs_absent_vertebral_body_mineralization Short ribs;Absent vertebral body mineralization Supplemental_disease_name DISEASE_NAME:short_sleep_familial_natural_1 Short sleep, familial natural, 1 Supplemental_disease_name DISEASE_NAME:short_sleep_familial_natural_2 SHORT SLEEP, FAMILIAL NATURAL, 2 Supplemental_disease_name DISEASE_NAME:short_sleep_familial_natural_3 SHORT SLEEP, FAMILIAL NATURAL, 3 Supplemental_disease_name DISEASE_NAME:short_stature Short stature Supplemental_disease_name DISEASE_NAME:short_stature_abnormal_cardiovascular_system_morphology Short stature;Abnormal cardiovascular system morphology Supplemental_disease_name DISEASE_NAME:short_stature_abnormal_facial_shape Short stature;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:short_stature_abnormality_of_prenatal_development_or_birth Short stature;Abnormality of prenatal development or birth Supplemental_disease_name DISEASE_NAME:short_stature_advanced_bone_age_early_onset_osteoarthritis_syndrome Short stature-advanced bone age-early-onset osteoarthritis syndrome Supplemental_disease_name DISEASE_NAME:short_stature_agenesis_of_permanent_teeth_deeply_set_eye_microcephaly_splenomegaly Short stature;Agenesis of permanent teeth;Deeply set eye;Microcephaly;Splenomegaly Supplemental_disease_name DISEASE_NAME:short_stature_amelogenesis_imperfecta_and_skeletal_dysplasia_with_scoliosis Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis Supplemental_disease_name DISEASE_NAME:short_stature_and_advanced_bone_age Short stature and advanced bone age Supplemental_disease_name DISEASE_NAME:short_stature_and_advanced_bone_age_with_early_onset_osteoarthritis Short stature and advanced bone age, with early-onset osteoarthritis Supplemental_disease_name DISEASE_NAME:short_stature_and_advanced_bone_age_with_or_without_early_onset_osteoarthritis_and_or_osteochondritis_dissecans Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans Supplemental_disease_name DISEASE_NAME:short_stature_and_advanced_bone_age_with_or_without_early_onset_osteoarthritis_and_or_osteochondritis_dissecans_spondyloepimetaphyseal_dysplasia_aggrecan_type_spondyloepiphyseal_dysplasia_kimberley_type Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type Supplemental_disease_name DISEASE_NAME:short_stature_and_microcephaly_with_genital_anomalies Short stature and microcephaly with genital anomalies Supplemental_disease_name DISEASE_NAME:short_stature_auditory_canal_atresia_mandibular_hypoplasia_skeletal_anomalies_syndrome Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Supplemental_disease_name DISEASE_NAME:short_stature_brachydactyly_obesity_global_developmental_delay_syndrome Short stature-brachydactyly-obesity-global developmental delay syndrome Supplemental_disease_name DISEASE_NAME:short_stature_conductive_hearing_impairment_cleft_palate Short stature;Conductive hearing impairment;Cleft palate Supplemental_disease_name DISEASE_NAME:short_stature_dauber_argente_type Short stature, Dauber-Argente type Supplemental_disease_name DISEASE_NAME:short_stature_decreased_body_weight Short stature;Decreased body weight Supplemental_disease_name DISEASE_NAME:short_stature_delayed_puberty Short stature;Delayed puberty Supplemental_disease_name DISEASE_NAME:short_stature_delayed_skeletal_maturation Short stature;Delayed skeletal maturation Supplemental_disease_name DISEASE_NAME:short_stature_due_to_growth_hormone_qualitative_anomaly Short stature due to growth hormone qualitative anomaly Supplemental_disease_name DISEASE_NAME:short_stature_due_to_growth_hormone_secretagogue_receptor_deficiency Short stature due to growth hormone secretagogue receptor deficiency Supplemental_disease_name DISEASE_NAME:short_stature_due_to_partial_ghr_deficiency Short stature due to partial GHR deficiency Supplemental_disease_name DISEASE_NAME:short_stature_due_to_partial_ghr_deficiency_hypercholesterolemia_familial_1_laron_type_isolated_somatotropin_defect Short stature due to partial GHR deficiency;Hypercholesterolemia, familial, 1;Laron-type isolated somatotropin defect Supplemental_disease_name DISEASE_NAME:short_stature_due_to_partial_ghr_deficiency_laron_type_isolated_somatotropin_defect_hypercholesterolemia_familial_1 Short stature due to partial GHR deficiency;Laron-type isolated somatotropin defect;Hypercholesterolemia, familial, 1 Supplemental_disease_name DISEASE_NAME:short_stature_due_to_primary_acid_labile_subunit_deficiency Short stature due to primary acid-labile subunit deficiency Supplemental_disease_name DISEASE_NAME:short_stature_facial_dysmorphism_and_skeletal_anomalies_with_or_without_cardiac_anomalies Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Supplemental_disease_name DISEASE_NAME:short_stature_failure_to_thrive_microcephaly_pubertal_developmental_failure_in_females Short stature;Failure to thrive;Microcephaly;Pubertal developmental failure in females Supplemental_disease_name DISEASE_NAME:short_stature_global_developmental_delay_ventricular_septal_defect Short stature;Global developmental delay;Ventricular septal defect Supplemental_disease_name DISEASE_NAME:short_stature_hypertelorism_pedal_edema_downslanted_palpebral_fissures Short stature;Hypertelorism;Pedal edema;Downslanted palpebral fissures Supplemental_disease_name DISEASE_NAME:short_stature_hypoglycemia Short stature;Hypoglycemia Supplemental_disease_name DISEASE_NAME:short_stature_impaired_intellectual_development_microcephaly_hypotonia_and_ocular_anomalies Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies Supplemental_disease_name DISEASE_NAME:short_stature_microcephaly Short stature;Microcephaly Supplemental_disease_name DISEASE_NAME:short_stature_microcephaly_and_endocrine_dysfunction Short stature, microcephaly, and endocrine dysfunction Supplemental_disease_name DISEASE_NAME:short_stature_neurodevelopmental_delay Short stature;Neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:short_stature_oligodontia_dysmorphic_facies_and_motor_delay Short stature, oligodontia, dysmorphic facies, and motor delay Supplemental_disease_name DISEASE_NAME:short_stature_onychodysplasia_facial_dysmorphism_hypotrichosis_syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Supplemental_disease_name DISEASE_NAME:short_stature_optic_atrophy_pelger_huët_anomaly_syndrome Short stature-optic atrophy-Pelger-Huët anomaly syndrome Supplemental_disease_name DISEASE_NAME:short_stature_optic_atrophy_pelger_huët_anomaly_syndrome_infantile_liver_failure_syndrome_2 Short stature-optic atrophy-Pelger-Huët anomaly syndrome;Infantile liver failure syndrome 2 Supplemental_disease_name DISEASE_NAME:short_stature_relative_macrocephaly Short stature;Relative macrocephaly Supplemental_disease_name DISEASE_NAME:short_stature_rhizomelic_with_microcephaly_micrognathia_and_developmental_delay Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay Supplemental_disease_name DISEASE_NAME:short_stature_scoliosis_recurrent_fractures_reduced_bone_mineral_density_abnormal_long_bone_morphology Short stature;Scoliosis;Recurrent fractures;Reduced bone mineral density;Abnormal long bone morphology Supplemental_disease_name DISEASE_NAME:short_stature_sensorineural_hearing_loss_disorder_glucose_intolerance_stroke_disorder Short stature;Sensorineural hearing loss disorder;Glucose intolerance;Stroke disorder Supplemental_disease_name DISEASE_NAME:short_stature_with_nonspecific_skeletal_abnormalities Short stature with nonspecific skeletal abnormalities Supplemental_disease_name DISEASE_NAME:short_stature_with_nonspecific_skeletal_abnormalities_1 Short stature with nonspecific skeletal abnormalities 1 Supplemental_disease_name DISEASE_NAME:short_stature_with_nonspecific_skeletal_abnormalities_1_acromesomelic_dysplasia_1_maroteaux_type_tall_stature_scoliosis_macrodactyly_of_the_great_toes_syndrome Short stature with nonspecific skeletal abnormalities 1;Acromesomelic dysplasia 1, Maroteaux type;Tall stature-scoliosis-macrodactyly of the great toes syndrome Supplemental_disease_name DISEASE_NAME:short_syndrome_agammaglobulinemia_7_autosomal_recessive_immunodeficiency_36_with_lymphoproliferation SHORT syndrome;Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation Supplemental_disease_name DISEASE_NAME:short_syndrome_immunodeficiency_36_with_lymphoproliferation_agammaglobulinemia_7_autosomal_recessive SHORT syndrome;Immunodeficiency 36 with lymphoproliferation;Agammaglobulinemia 7, autosomal recessive Supplemental_disease_name DISEASE_NAME:shoulder_girdle_muscle_weakness Shoulder girdle muscle weakness Supplemental_disease_name DISEASE_NAME:shoulder_girdle_muscle_weakness_calf_muscle_hypertrophy Shoulder girdle muscle weakness;Calf muscle hypertrophy Supplemental_disease_name DISEASE_NAME:shoulder_girdle_muscle_weakness_emg_myopathic_abnormalities Shoulder girdle muscle weakness;EMG: myopathic abnormalities Supplemental_disease_name DISEASE_NAME:shoulder_girdle_muscle_weakness_muscular_dystrophy_limb_girdle_muscle_weakness Shoulder girdle muscle weakness;Muscular dystrophy;Limb-girdle muscle weakness Supplemental_disease_name DISEASE_NAME:shoulder_subluxation Shoulder subluxation Supplemental_disease_name DISEASE_NAME:shox2_related_disorder SHOX2-related disorder Supplemental_disease_name DISEASE_NAME:shox_related_disorder SHOX-related disorder Supplemental_disease_name DISEASE_NAME:shox_related_short_stature_langer_mesomelic_dysplasia_syndrome_leri_weill_dyschondrosteosis SHOX-related short stature;Langer mesomelic dysplasia syndrome;Leri-Weill dyschondrosteosis Supplemental_disease_name DISEASE_NAME:shpk_related_disorder SHPK-related disorder Supplemental_disease_name DISEASE_NAME:shprintzen_goldberg_syndrome Shprintzen-Goldberg syndrome Supplemental_disease_name DISEASE_NAME:shq1_related_disorder SHQ1-related disorder Supplemental_disease_name DISEASE_NAME:shroom1_related_disorder SHROOM1-related disorder Supplemental_disease_name DISEASE_NAME:shroom2_related_disorder SHROOM2-related disorder Supplemental_disease_name DISEASE_NAME:shroom3_related_disorder SHROOM3-related disorder Supplemental_disease_name DISEASE_NAME:shroom4_related_disorder SHROOM4-related disorder Supplemental_disease_name DISEASE_NAME:shwachman_diamond_syndrome_1 Shwachman-Diamond syndrome 1 Supplemental_disease_name DISEASE_NAME:shwachman_diamond_syndrome_1_aplastic_anemia Shwachman-Diamond syndrome 1;Aplastic anemia Supplemental_disease_name DISEASE_NAME:shwachman_diamond_syndrome_1_bone_marrow_failure_syndrome_3 Shwachman-Diamond syndrome 1;Bone marrow failure syndrome 3 Supplemental_disease_name DISEASE_NAME:shwachman_diamond_syndrome_1_neutropenia_severe_congenital_8_autosomal_dominant Shwachman-Diamond syndrome 1;Neutropenia, severe congenital, 8, autosomal dominant Supplemental_disease_name DISEASE_NAME:shwachman_diamond_syndrome_1_severe_congenital_neutropenia Shwachman-Diamond syndrome 1;Severe congenital neutropenia Supplemental_disease_name DISEASE_NAME:shwachman_diamond_syndrome_2 Shwachman-Diamond syndrome 2 Supplemental_disease_name DISEASE_NAME:si_related_disorder SI-related disorder Supplemental_disease_name DISEASE_NAME:siae_related_disorder SIAE-related disorder Supplemental_disease_name DISEASE_NAME:siah1_related_condition SIAH1-related condition Supplemental_disease_name DISEASE_NAME:siah1_related_neurodevelopmental_disorder SIAH1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:sialic_acid_storage_disease_severe_infantile_type Sialic acid storage disease, severe infantile type Supplemental_disease_name DISEASE_NAME:sialic_acid_storage_disease_severe_infantile_type_salla_disease Sialic acid storage disease, severe infantile type;Salla disease Supplemental_disease_name DISEASE_NAME:sialidosis_type_1 Sialidosis type 1 Supplemental_disease_name DISEASE_NAME:sialidosis_type_2 Sialidosis type 2 Supplemental_disease_name DISEASE_NAME:sialoblastoma Sialoblastoma Supplemental_disease_name DISEASE_NAME:sialuria_gne_myopathy Sialuria;GNE myopathy Supplemental_disease_name DISEASE_NAME:sialuria_gne_myopathy_thrombocytopenia_12_with_or_without_myopathy Sialuria;GNE myopathy;Thrombocytopenia 12 with or without myopathy Supplemental_disease_name DISEASE_NAME:sialuria_thrombocytopenia_12_with_or_without_myopathy_gne_myopathy Sialuria;Thrombocytopenia 12 with or without myopathy;GNE myopathy Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_1 Sick sinus syndrome 1 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_1_brugada_syndrome_1_long_qt_syndrome_3_dilated_cardiomyopathy_1e_atrial_fibrillation_familial_10 Sick sinus syndrome 1;Brugada syndrome 1;Long QT syndrome 3;Dilated cardiomyopathy 1E;Atrial fibrillation, familial, 10 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_1_brugada_syndrome_1_sudden_infant_death_syndrome_long_qt_syndrome_3_dilated_cardiomyopathy_1e Sick sinus syndrome 1;Brugada syndrome 1;SUDDEN INFANT DEATH SYNDROME;Long QT syndrome 3;Dilated cardiomyopathy 1E Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_1_long_qt_syndrome_brugada_syndrome_1_sudden_infant_death_syndrome_dilated_cardiomyopathy_1e Sick sinus syndrome 1;Long QT syndrome;Brugada syndrome 1;SUDDEN INFANT DEATH SYNDROME;Dilated cardiomyopathy 1E Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_2_autosomal_dominant Sick sinus syndrome 2, autosomal dominant Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_2_autosomal_dominant_brugada_syndrome_8 Sick sinus syndrome 2, autosomal dominant;Brugada syndrome 8 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_2_autosomal_dominant_brugada_syndrome_8_epilepsy_idiopathic_generalized_susceptibility_to_18 Sick sinus syndrome 2, autosomal dominant;Brugada syndrome 8;Epilepsy, idiopathic generalized, susceptibility to, 18 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_2_autosomal_dominant_epilepsy_idiopathic_generalized_susceptibility_to_18 Sick sinus syndrome 2, autosomal dominant;Epilepsy, idiopathic generalized, susceptibility to, 18 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_2_autosomal_dominant_epilepsy_idiopathic_generalized_susceptibility_to_18_brugada_syndrome_8 Sick sinus syndrome 2, autosomal dominant;Epilepsy, idiopathic generalized, susceptibility to, 18;Brugada syndrome 8 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to Sick sinus syndrome 3, susceptibility to Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14 Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1 Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14 Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_atrial_septal_defect_3_hypertrophic_cardiomyopathy_1_hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_atrial_septal_defect_3_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1 Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Atrial septal defect 3;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3 Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3_hypertrophic_cardiomyopathy_1 Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3;Hypertrophic cardiomyopathy 1 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_hypertrophic_cardiomyopathy_1_atrial_septal_defect_3 Sick sinus syndrome 3, susceptibility to;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Hypertrophic cardiomyopathy 1;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee_atrial_septal_defect_3 Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1_atrial_septal_defect_3_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14 Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Atrial septal defect 3;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_atrial_septal_defect_3_hypertrophic_cardiomyopathy_14 Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Atrial septal defect 3;Hypertrophic cardiomyopathy 14 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1_dilated_cardiomyopathy_1ee_hypertrophic_cardiomyopathy_14_atrial_septal_defect_3 Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_3_susceptibility_to_hypertrophic_cardiomyopathy_1_hypertrophic_cardiomyopathy_14_dilated_cardiomyopathy_1ee_atrial_septal_defect_3 Sick sinus syndrome 3, susceptibility to;Hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy 14;Dilated cardiomyopathy 1EE;Atrial septal defect 3 Supplemental_disease_name DISEASE_NAME:sick_sinus_syndrome_4 Sick sinus syndrome 4 Supplemental_disease_name DISEASE_NAME:sickle_cell_hemoglobin_c_disease Sickle cell-hemoglobin C disease Supplemental_disease_name DISEASE_NAME:sickle_cell_hemoglobin_o_arab_disease Sickle cell-Hemoglobin O Arab disease Supplemental_disease_name DISEASE_NAME:sideroblastic_anemia_1_late_onset Sideroblastic anemia 1, late-onset Supplemental_disease_name DISEASE_NAME:sideroblastic_anemia_2 Sideroblastic anemia 2 Supplemental_disease_name DISEASE_NAME:sideroblastic_anemia_3 Sideroblastic anemia 3 Supplemental_disease_name DISEASE_NAME:sideroblastic_anemia_inborn_mitochondrial_myopathy Sideroblastic anemia;Inborn mitochondrial myopathy Supplemental_disease_name DISEASE_NAME:sigmar1_related_disorder SIGMAR1-related disorder Supplemental_disease_name DISEASE_NAME:sik3_related_disorder SIK3-related disorder Supplemental_disease_name DISEASE_NAME:sil1_related_disorder SIL1-related disorder Supplemental_disease_name DISEASE_NAME:silver_russell_syndrome_1 Silver-Russell syndrome 1 Supplemental_disease_name DISEASE_NAME:silver_russell_syndrome_1_beckwith_wiedemann_syndrome_wilms_tumor_1_silver_russell_syndrome_3 Silver-Russell syndrome 1;Beckwith-Wiedemann syndrome;Wilms tumor 1;Silver-Russell syndrome 3 Supplemental_disease_name DISEASE_NAME:silver_russell_syndrome_3 Silver-Russell syndrome 3 Supplemental_disease_name DISEASE_NAME:silver_russell_syndrome_4 Silver-russell syndrome 4 Supplemental_disease_name DISEASE_NAME:silver_russell_syndrome_5 Silver-Russell syndrome 5 Supplemental_disease_name DISEASE_NAME:silver_russell_syndrome_related_disorder Silver Russell Syndrome-related disorder Supplemental_disease_name DISEASE_NAME:sim1_associated_metabolic_syndrome SIM1-associated metabolic syndrome Supplemental_disease_name DISEASE_NAME:sim1_related_disorder SIM1-related disorder Supplemental_disease_name DISEASE_NAME:sim1_related_obesity SIM1-related obesity Supplemental_disease_name DISEASE_NAME:simplex_epidermolysis_bullosa_ogna_type Simplex epidermolysis bullosa_Ogna type Supplemental_disease_name DISEASE_NAME:simplified_gyral_pattern Simplified gyral pattern Supplemental_disease_name DISEASE_NAME:simpson_golabi_behmel_syndrome Simpson-Golabi-Behmel syndrome Supplemental_disease_name DISEASE_NAME:simpson_golabi_behmel_syndrome_type_1_wilms_tumor_1 Simpson-Golabi-Behmel syndrome type 1;Wilms tumor 1 Supplemental_disease_name DISEASE_NAME:simpson_golabi_behmel_syndrome_type_1_wilms_tumor_1_keipert_syndrome Simpson-Golabi-Behmel syndrome type 1;Wilms tumor 1;Keipert syndrome Supplemental_disease_name DISEASE_NAME:simpson_golabi_behmel_syndrome_type_2_joubert_syndrome_10 Simpson-Golabi-Behmel syndrome type 2;Joubert syndrome 10 Supplemental_disease_name DISEASE_NAME:simpson_golabi_behmel_syndrome_type_2_joubert_syndrome_10_orofaciodigital_syndrome_i_retinitis_pigmentosa_23 Simpson-Golabi-Behmel syndrome type 2;Joubert syndrome 10;Orofaciodigital syndrome I;Retinitis pigmentosa 23 Supplemental_disease_name DISEASE_NAME:simpson_golabi_behmel_syndrome_type_2_joubert_syndrome_10_retinitis_pigmentosa_23_orofaciodigital_syndrome_i Simpson-Golabi-Behmel syndrome type 2;Joubert syndrome 10;Retinitis pigmentosa 23;Orofaciodigital syndrome I Supplemental_disease_name DISEASE_NAME:simpson_golabi_behmel_syndrome_type_2_orofaciodigital_syndrome_i_joubert_syndrome_10_retinitis_pigmentosa_23 Simpson-Golabi-Behmel syndrome type 2;Orofaciodigital syndrome I;Joubert syndrome 10;Retinitis pigmentosa 23 Supplemental_disease_name DISEASE_NAME:simpson_golabi_behmel_syndrome_type_2_retinitis_pigmentosa_23_joubert_syndrome_10_orofaciodigital_syndrome_i Simpson-Golabi-Behmel syndrome type 2;Retinitis pigmentosa 23;Joubert syndrome 10;Orofaciodigital syndrome I Supplemental_disease_name DISEASE_NAME:simvastatin_acid_response_metabolism_pk simvastatin acid response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:simvastatin_response_metabolism_pk simvastatin response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:simvastatin_response_toxicity simvastatin response - Toxicity Supplemental_disease_name DISEASE_NAME:sin3a_related_disorder SIN3A-related disorder Supplemental_disease_name DISEASE_NAME:sin3a_related_intellectual_disability_syndrome SIN3A-related intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:sin3a_related_intellectual_disability_syndrome_due_to_a_point_mutation SIN3A-related intellectual disability syndrome due to a point mutation Supplemental_disease_name DISEASE_NAME:sin3b_associated_disorder SIN3B-associated disorder Supplemental_disease_name DISEASE_NAME:sin3b_related_disorder SIN3B-related disorder Supplemental_disease_name DISEASE_NAME:sin3b_related_neurodevelopmental_disorder SIN3B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:single_ventricle_defect_pulmonary_atresia_with_ventricular_septal_defect_familial_atrioventricular_septal_defect_visceral_heterotaxy Single Ventricle Defect;Pulmonary atresia with ventricular septal defect;Familial atrioventricular septal defect;Visceral heterotaxy Supplemental_disease_name DISEASE_NAME:singleton_merten_syndrome Singleton-merten syndrome Supplemental_disease_name DISEASE_NAME:singleton_merten_syndrome_1 Singleton-Merten syndrome 1 Supplemental_disease_name DISEASE_NAME:singleton_merten_syndrome_1_aicardi_goutieres_syndrome_7 Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7 Supplemental_disease_name DISEASE_NAME:singleton_merten_syndrome_1_aicardi_goutieres_syndrome_7_immunodeficiency_95 Singleton-Merten syndrome 1;Aicardi-Goutieres syndrome 7;Immunodeficiency 95 Supplemental_disease_name DISEASE_NAME:singleton_merten_syndrome_1_immunodeficiency_95_aicardi_goutieres_syndrome_7 Singleton-Merten syndrome 1;Immunodeficiency 95;Aicardi-Goutieres syndrome 7 Supplemental_disease_name DISEASE_NAME:singleton_merten_syndrome_2 Singleton-Merten syndrome 2 Supplemental_disease_name DISEASE_NAME:sinoatrial_node_disorder Sinoatrial node disorder Supplemental_disease_name DISEASE_NAME:sinoatrial_node_dysfunction_and_deafness Sinoatrial node dysfunction and deafness Supplemental_disease_name DISEASE_NAME:sinoatrial_node_dysfunction_and_deafness_aldosterone_producing_adenoma_with_seizures_and_neurological_abnormalities Sinoatrial node dysfunction and deafness;Aldosterone-producing adenoma with seizures and neurological abnormalities Supplemental_disease_name DISEASE_NAME:sinus_bradycardia_sudden_cardiac_death Sinus bradycardia;Sudden cardiac death Supplemental_disease_name DISEASE_NAME:sinus_histiocytosis_with_massive_lymphadenopathy Sinus histiocytosis with massive lymphadenopathy Supplemental_disease_name DISEASE_NAME:sipa1l3_related_disorder SIPA1L3-related disorder Supplemental_disease_name DISEASE_NAME:sirenomelia Sirenomelia Supplemental_disease_name DISEASE_NAME:sirt1_related_disorder SIRT1-related disorder Supplemental_disease_name DISEASE_NAME:sirt3_related_disorder SIRT3-related disorder Supplemental_disease_name DISEASE_NAME:sirt5_related_disorder SIRT5-related disorder Supplemental_disease_name DISEASE_NAME:sirt6_related_disorder SIRT6-related disorder Supplemental_disease_name DISEASE_NAME:sitosterolemia_1_gallbladder_disease_4 Sitosterolemia 1;Gallbladder disease 4 Supplemental_disease_name DISEASE_NAME:sitosterolemia_2_short_rib_thoracic_dysplasia_15_with_polydactyly Sitosterolemia 2;Short-rib thoracic dysplasia 15 with polydactyly Supplemental_disease_name DISEASE_NAME:sitosterolemia_gallbladder_disease_4 Sitosterolemia;Gallbladder disease 4 Supplemental_disease_name DISEASE_NAME:situs_inversus_bronchiectasis_recurrent_sinusitis_recurrent_otitis_media_male_infertility Situs inversus;Bronchiectasis;Recurrent sinusitis;Recurrent otitis media;Male infertility Supplemental_disease_name DISEASE_NAME:situs_inversus_oculomotor_apraxia Situs inversus;Oculomotor apraxia Supplemental_disease_name DISEASE_NAME:six1_related_disorder SIX1-related disorder Supplemental_disease_name DISEASE_NAME:six2_related_disorder SIX2-related disorder Supplemental_disease_name DISEASE_NAME:six3_related_disorder SIX3-related disorder Supplemental_disease_name DISEASE_NAME:six4_related_disorder SIX4-related disorder Supplemental_disease_name DISEASE_NAME:six5_related_disorder SIX5-related disorder Supplemental_disease_name DISEASE_NAME:six6_related_disorder SIX6-related disorder Supplemental_disease_name DISEASE_NAME:sjoegren_larsson_syndrome Sjoegren-Larsson syndrome Supplemental_disease_name DISEASE_NAME:sjögren_larsson_syndrome Sjögren-Larsson syndrome Supplemental_disease_name DISEASE_NAME:skeletal_defects_genital_hypoplasia_and_intellectual_disability Skeletal defects, genital hypoplasia, and intellectual disability Supplemental_disease_name DISEASE_NAME:skeletal_dysplaisia_with_extra_skeletal_manifestations Skeletal dysplaisia with extra-skeletal manifestations Supplemental_disease_name DISEASE_NAME:skeletal_dysplasia_and_progressive_central_nervous_system_degeneration_lethal Skeletal dysplasia and progressive central nervous system degeneration, lethal Supplemental_disease_name DISEASE_NAME:skeletal_dysplasia_mild_with_joint_laxity_and_advanced_bone_age Skeletal dysplasia, mild, with joint laxity and advanced bone age Supplemental_disease_name DISEASE_NAME:skeletal_dysplasia_neuromuscular_disease Skeletal dysplasia;Neuromuscular disease Supplemental_disease_name DISEASE_NAME:skeletal_dysplasia_short_stature_failure_to_thrive_delayed_speech_and_language_development Skeletal dysplasia;Short stature;Failure to thrive;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:skeletal_dysplasia_with_acanthosis_nigricans SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS Supplemental_disease_name DISEASE_NAME:skeletal_muscle_channelopathy Skeletal muscle channelopathy Supplemental_disease_name DISEASE_NAME:skeletal_muscle_glycogen_content_and_metabolism_quantitative_trait_locus SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS Supplemental_disease_name DISEASE_NAME:skeletal_myopathy Skeletal myopathy Supplemental_disease_name DISEASE_NAME:skeletal_myopathy_peripheral_neuropathy Skeletal myopathy;Peripheral neuropathy Supplemental_disease_name DISEASE_NAME:skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Supplemental_disease_name DISEASE_NAME:skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_basal_ganglia_calcification_idiopathic_4_infantile_myofibromatosis Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Acroosteolysis-keloid-like lesions-premature aging syndrome;Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis Supplemental_disease_name DISEASE_NAME:skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_infantile_myofibromatosis_basal_ganglia_calcification_idiopathic_4 Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Acroosteolysis-keloid-like lesions-premature aging syndrome;Infantile myofibromatosis;Basal ganglia calcification, idiopathic, 4 Supplemental_disease_name DISEASE_NAME:skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_basal_ganglia_calcification_idiopathic_4_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_infantile_myofibromatosis Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Basal ganglia calcification, idiopathic, 4;Acroosteolysis-keloid-like lesions-premature aging syndrome;Infantile myofibromatosis Supplemental_disease_name DISEASE_NAME:skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_basal_ganglia_calcification_idiopathic_4_infantile_myofibromatosis_acroosteolysis_keloid_like_lesions_premature_aging_syndrome Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis;Acroosteolysis-keloid-like lesions-premature aging syndrome Supplemental_disease_name DISEASE_NAME:skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_infantile_myofibromatosis_acroosteolysis_keloid_like_lesions_premature_aging_syndrome_basal_ganglia_calcification_idiopathic_4 Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Infantile myofibromatosis;Acroosteolysis-keloid-like lesions-premature aging syndrome;Basal ganglia calcification, idiopathic, 4 Supplemental_disease_name DISEASE_NAME:skeletal_overgrowth_craniofacial_dysmorphism_hyperelastic_skin_white_matter_lesions_syndrome_infantile_myofibromatosis_basal_ganglia_calcification_idiopathic_4_acroosteolysis_keloid_like_lesions_premature_aging_syndrome Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome;Infantile myofibromatosis;Basal ganglia calcification, idiopathic, 4;Acroosteolysis-keloid-like lesions-premature aging syndrome Supplemental_disease_name DISEASE_NAME:ski_related_disorder SKI-related disorder Supplemental_disease_name DISEASE_NAME:skic2_related_disorder SKIC2-related disorder Supplemental_disease_name DISEASE_NAME:skic3_related_disorder SKIC3-related disorder Supplemental_disease_name DISEASE_NAME:skida1_related_disorder SKIDA1-related disorder Supplemental_disease_name DISEASE_NAME:skin_and_hair_hypopigmentation Skin and Hair Hypopigmentation Supplemental_disease_name DISEASE_NAME:skin_creases_congenital_symmetric_circumferential_2 Skin creases, congenital symmetric circumferential, 2 Supplemental_disease_name DISEASE_NAME:skin_cutaneous_melanoma Skin cutaneous melanoma Supplemental_disease_name DISEASE_NAME:skin_erosion_nail_dystrophy_abnormality_of_the_skin Skin erosion;Nail dystrophy;Abnormality of the skin Supplemental_disease_name DISEASE_NAME:skin_fragility_woolly_hair_palmoplantar_keratoderma_syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_1_blue_nonblue_eyes SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_1_blue_nonblue_eyes_developmental_delay_with_autism_spectrum_disorder_and_gait_instability SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Developmental delay with autism spectrum disorder and gait instability Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_1_blue_nonblue_eyes_prader_willi_syndrome_developmental_delay_with_autism_spectrum_disorder_and_gait_instability SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Prader-Willi syndrome;Developmental delay with autism spectrum disorder and gait instability Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_1_blue_nonblue_eyes_tyrosinase_positive_oculocutaneous_albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_2_blond_hair_fair_skin Skin/hair/eye pigmentation 2, blond hair/fair skin Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_2_red_hair_fair_skin Skin/hair/eye pigmentation 2, red hair/fair skin Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_3_blue_green_eyes Skin/hair/eye pigmentation 3, blue/green eyes Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_3_light_dark_skin SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_3_light_dark_skin_oculocutaneous_albinism_type_1a_oculocutaneous_albinism_type_1b SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_3_light_dark_skin_oculocutaneous_albinism_type_1a_oculocutaneous_albinism_type_1b_ocular_albinism_with_congenital_sensorineural_hearing_loss SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;Ocular albinism with congenital sensorineural hearing loss Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_5_black_nonblack_hair SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_5_black_nonblack_hair_oculocutaneous_albinism_type_4 SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR;Oculocutaneous albinism type 4 Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_6_blond_brown_hair SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_7_dark_light_skin SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_9_dark_light_hair SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_variation_in_10 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_variation_in_2 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_variation_in_2_melanoma_cutaneous_malignant_susceptibility_to_5_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_tyrosinase_positive_oculocutaneous_albinism SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Melanoma, cutaneous malignant, susceptibility to, 5;Increased analgesia from kappa-opioid receptor agonist, female-specific;Tyrosinase-positive oculocutaneous albinism Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_variation_in_2_tyrosinase_positive_oculocutaneous_albinism_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_melanoma_cutaneous_malignant_susceptibility_to_5 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Tyrosinase-positive oculocutaneous albinism;Increased analgesia from kappa-opioid receptor agonist, female-specific;Melanoma, cutaneous malignant, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_variation_in_4 Skin/hair/eye pigmentation, variation in, 4 Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_variation_in_8 Skin/hair/eye pigmentation, variation in, 8 Supplemental_disease_name DISEASE_NAME:skin_rash_arthritis_immunodeficiency_colitis_decreased_circulating_immunoglobulin_concentration Skin rash;Arthritis;Immunodeficiency;Colitis;Decreased circulating immunoglobulin concentration Supplemental_disease_name DISEASE_NAME:skin_rash_joint_swelling_immunodeficiency_colitis_decreased_circulating_immunoglobulin_concentration Skin rash;Joint swelling;Immunodeficiency;Colitis;Decreased circulating immunoglobulin concentration Supplemental_disease_name DISEASE_NAME:skin_tags_preauricular_skin_tag_pericallosal_lipoma Skin tags;Preauricular skin tag;Pericallosal lipoma Supplemental_disease_name DISEASE_NAME:skraban_deardorff_syndrome Skraban-Deardorff syndrome Supplemental_disease_name DISEASE_NAME:slain1_related_disorder SLAIN1-related disorder Supplemental_disease_name DISEASE_NAME:slc10a1_related_disorder SLC10A1-related disorder Supplemental_disease_name DISEASE_NAME:slc10a2_related_disorder SLC10A2-related disorder Supplemental_disease_name DISEASE_NAME:slc10a7_related_disorder SLC10A7-related disorder Supplemental_disease_name DISEASE_NAME:slc11a1_related_disorder SLC11A1-related disorder Supplemental_disease_name DISEASE_NAME:slc11a2_related_disorder SLC11A2-related disorder Supplemental_disease_name DISEASE_NAME:slc12a1_related_disorder SLC12A1-related disorder Supplemental_disease_name DISEASE_NAME:slc12a2_related_disorder SLC12A2-related disorder Supplemental_disease_name DISEASE_NAME:slc12a3_related_disorder SLC12A3-related disorder Supplemental_disease_name DISEASE_NAME:slc12a5_related_disorder SLC12A5-related disorder Supplemental_disease_name DISEASE_NAME:slc12a6_related_disorder SLC12A6-related disorder Supplemental_disease_name DISEASE_NAME:slc13a3_related_disorder SLC13A3-related disorder Supplemental_disease_name DISEASE_NAME:slc13a5_related_disorder SLC13A5-related disorder Supplemental_disease_name DISEASE_NAME:slc14a1_related_disorder SLC14A1-related disorder Supplemental_disease_name DISEASE_NAME:slc16a12_related_disorder SLC16A12-related disorder Supplemental_disease_name DISEASE_NAME:slc16a1_related_disorder SLC16A1-related disorder Supplemental_disease_name DISEASE_NAME:slc16a2_related_disorder SLC16A2-related disorder Supplemental_disease_name DISEASE_NAME:slc17a3_related_disorder SLC17A3-related disorder Supplemental_disease_name DISEASE_NAME:slc17a5_related_disorder SLC17A5-related disorder Supplemental_disease_name DISEASE_NAME:slc17a8_related_disorder SLC17A8-related disorder Supplemental_disease_name DISEASE_NAME:slc17a9_related_disorder SLC17A9-related disorder Supplemental_disease_name DISEASE_NAME:slc18a2_related_disorder SLC18A2-related disorder Supplemental_disease_name DISEASE_NAME:slc18a3_related_disorder SLC18A3-related disorder Supplemental_disease_name DISEASE_NAME:slc19a1_related_disorder SLC19A1-related disorder Supplemental_disease_name DISEASE_NAME:slc19a2_related_disorder SLC19A2-related disorder Supplemental_disease_name DISEASE_NAME:slc19a3_related_disorder SLC19A3-related disorder Supplemental_disease_name DISEASE_NAME:slc1a1_related_disorder SLC1A1-related disorder Supplemental_disease_name DISEASE_NAME:slc1a2_related_disorder SLC1A2-related disorder Supplemental_disease_name DISEASE_NAME:slc1a3_related_disorder SLC1A3-related disorder Supplemental_disease_name DISEASE_NAME:slc1a4_related_disorder SLC1A4-related disorder Supplemental_disease_name DISEASE_NAME:slc1a4_related_spastic_tetraplegia_thin_corpus_callosum_progressive_postnatal_microcephaly_syndrome SLC1A4-related spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Supplemental_disease_name DISEASE_NAME:slc1a5_related_disorder SLC1A5-related disorder Supplemental_disease_name DISEASE_NAME:slc20a1_related_disorder SLC20A1-related disorder Supplemental_disease_name DISEASE_NAME:slc20a2_related_disorder SLC20A2-related disorder Supplemental_disease_name DISEASE_NAME:slc22a11_related_disorder SLC22A11-related disorder Supplemental_disease_name DISEASE_NAME:slc22a12_related_disorder SLC22A12-related disorder Supplemental_disease_name DISEASE_NAME:slc22a18_related_disorder SLC22A18-related disorder Supplemental_disease_name DISEASE_NAME:slc22a25_related_disorder SLC22A25-related disorder Supplemental_disease_name DISEASE_NAME:slc22a4_polymorphism SLC22A4 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:slc22a4_related_disorder SLC22A4-related disorder Supplemental_disease_name DISEASE_NAME:slc22a5_related_disorder SLC22A5-related disorder Supplemental_disease_name DISEASE_NAME:slc24a1_related_disorder SLC24A1-related disorder Supplemental_disease_name DISEASE_NAME:slc24a4_related_disorder SLC24A4-related disorder Supplemental_disease_name DISEASE_NAME:slc24a5_related_disorder SLC24A5-related disorder Supplemental_disease_name DISEASE_NAME:slc25a10_related_disorder SLC25A10-related disorder Supplemental_disease_name DISEASE_NAME:slc25a11_related_disorder SLC25A11-related disorder Supplemental_disease_name DISEASE_NAME:slc25a12_related_disorder SLC25A12-related disorder Supplemental_disease_name DISEASE_NAME:slc25a13_related_disorder SLC25A13-related disorder Supplemental_disease_name DISEASE_NAME:slc25a15_related_disorder SLC25A15-related disorder Supplemental_disease_name DISEASE_NAME:slc25a18_related_disorder SLC25A18-related disorder Supplemental_disease_name DISEASE_NAME:slc25a19_related_disorder SLC25A19-related disorder Supplemental_disease_name DISEASE_NAME:slc25a1_related_disorder SLC25A1-related disorder Supplemental_disease_name DISEASE_NAME:slc25a20_related_disorder SLC25A20-related disorder Supplemental_disease_name DISEASE_NAME:slc25a21_related_disorder SLC25A21-related disorder Supplemental_disease_name DISEASE_NAME:slc25a22_related_disorder SLC25A22-related disorder Supplemental_disease_name DISEASE_NAME:slc25a24_related_disorder SLC25A24-related disorder Supplemental_disease_name DISEASE_NAME:slc25a26_related_disorder SLC25A26-related disorder Supplemental_disease_name DISEASE_NAME:slc25a32_related_disorder SLC25A32-related disorder Supplemental_disease_name DISEASE_NAME:slc25a33_related_disorder SLC25A33-related disorder Supplemental_disease_name DISEASE_NAME:slc25a38_related_disorder SLC25A38-related disorder Supplemental_disease_name DISEASE_NAME:slc25a3_related_disorder SLC25A3-related disorder Supplemental_disease_name DISEASE_NAME:slc25a40_related_disorder SLC25A40-related disorder Supplemental_disease_name DISEASE_NAME:slc25a42_related_disorder SLC25A42-related disorder Supplemental_disease_name DISEASE_NAME:slc25a42_related_mitochondrial_disorder SLC25A42-related mitochondrial disorder Supplemental_disease_name DISEASE_NAME:slc25a42_related_mitochondrial_encephalomyopathy SLC25A42-related mitochondrial encephalomyopathy Supplemental_disease_name DISEASE_NAME:slc25a43_related_disorder SLC25A43-related disorder Supplemental_disease_name DISEASE_NAME:slc25a46_associated_optic_atrophy_spectrum_disorder SLC25A46-associated optic atrophy spectrum disorder Supplemental_disease_name DISEASE_NAME:slc25a46_related_disorder SLC25A46-related disorder Supplemental_disease_name DISEASE_NAME:slc25a4_related_disorder SLC25A4-related disorder Supplemental_disease_name DISEASE_NAME:slc25a5_related_disorder SLC25A5-related disorder Supplemental_disease_name DISEASE_NAME:slc25a6_related_disorder SLC25A6-related disorder Supplemental_disease_name DISEASE_NAME:slc26a1_related_disorder SLC26A1-related disorder Supplemental_disease_name DISEASE_NAME:slc26a2_related_disorder SLC26A2-related disorder Supplemental_disease_name DISEASE_NAME:slc26a2_related_skeletal_dysplasia SLC26A2-related skeletal dysplasia Supplemental_disease_name DISEASE_NAME:slc26a3_related_disorder SLC26A3-related disorder Supplemental_disease_name DISEASE_NAME:slc26a4_related_disorder SLC26A4-related disorder Supplemental_disease_name DISEASE_NAME:slc26a5_related_disorder SLC26A5-related disorder Supplemental_disease_name DISEASE_NAME:slc26a7_related_disorder SLC26A7-related disorder Supplemental_disease_name DISEASE_NAME:slc26a8_related_disorder SLC26A8-related disorder Supplemental_disease_name DISEASE_NAME:slc27a4_related_disorder SLC27A4-related disorder Supplemental_disease_name DISEASE_NAME:slc27a5_related_disorder SLC27A5-related disorder Supplemental_disease_name DISEASE_NAME:slc28a1_related_disorder SLC28A1-related disorder Supplemental_disease_name DISEASE_NAME:slc29a1_related_disorder SLC29A1-related disorder Supplemental_disease_name DISEASE_NAME:slc29a3_related_disorder SLC29A3-related disorder Supplemental_disease_name DISEASE_NAME:slc29a4_related_disorder SLC29A4-related disorder Supplemental_disease_name DISEASE_NAME:slc2a10_related_disorder SLC2A10-related disorder Supplemental_disease_name DISEASE_NAME:slc2a1_related_disorder SLC2A1-related disorder Supplemental_disease_name DISEASE_NAME:slc2a2_related_disorder SLC2A2-related disorder Supplemental_disease_name DISEASE_NAME:slc2a9_related_disorder SLC2A9-related disorder Supplemental_disease_name DISEASE_NAME:slc30a10_related_disorder SLC30A10-related disorder Supplemental_disease_name DISEASE_NAME:slc30a2_related_disorder SLC30A2-related disorder Supplemental_disease_name DISEASE_NAME:slc30a8_related_disorder SLC30A8-related disorder Supplemental_disease_name DISEASE_NAME:slc30a9_related_disorder SLC30A9-related disorder Supplemental_disease_name DISEASE_NAME:slc32a1_related_epilepsy SLC32A1-related epilepsy Supplemental_disease_name DISEASE_NAME:slc33a1_related_disorder SLC33A1-related disorder Supplemental_disease_name DISEASE_NAME:slc33a1_related_hereditary_spastic_paraplegia SLC33A1-related hereditary spastic paraplegia Supplemental_disease_name DISEASE_NAME:slc34a1_related_disorder SLC34A1-related disorder Supplemental_disease_name DISEASE_NAME:slc34a2_related_disorder SLC34A2-related disorder Supplemental_disease_name DISEASE_NAME:slc34a3_related_disorder SLC34A3-related disorder Supplemental_disease_name DISEASE_NAME:slc35a1_congenital_disorder_of_glycosylation SLC35A1-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:slc35a1_related_disorder SLC35A1-related disorder Supplemental_disease_name DISEASE_NAME:slc35a2_congenital_disorder_of_glycosylation SLC35A2-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:slc35a2_related_disorder SLC35A2-related disorder Supplemental_disease_name DISEASE_NAME:slc35a3_related_disorder SLC35A3-related disorder Supplemental_disease_name DISEASE_NAME:slc35b1_related_disorder SLC35B1-related disorder Supplemental_disease_name DISEASE_NAME:slc35c1_related_disorder SLC35C1-related disorder Supplemental_disease_name DISEASE_NAME:slc35d1_related_disorder SLC35D1-related disorder Supplemental_disease_name DISEASE_NAME:slc36a2_related_disorder SLC36A2-related disorder Supplemental_disease_name DISEASE_NAME:slc37a4_related_disorder SLC37A4-related disorder Supplemental_disease_name DISEASE_NAME:slc38a10_related_disorder SLC38A10-related disorder Supplemental_disease_name DISEASE_NAME:slc38a5_related_disorder SLC38A5-related disorder Supplemental_disease_name DISEASE_NAME:slc38a8_related_disorder SLC38A8-related disorder Supplemental_disease_name DISEASE_NAME:slc39a13_related_disorder SLC39A13-related disorder Supplemental_disease_name DISEASE_NAME:slc39a14_related_disorder SLC39A14-related disorder Supplemental_disease_name DISEASE_NAME:slc39a4_related_disorder SLC39A4-related disorder Supplemental_disease_name DISEASE_NAME:slc39a5_related_disorder SLC39A5-related disorder Supplemental_disease_name DISEASE_NAME:slc39a7_related_disorder SLC39A7-related disorder Supplemental_disease_name DISEASE_NAME:slc39a8_related_disorder SLC39A8-related disorder Supplemental_disease_name DISEASE_NAME:slc3a1_related_disorder SLC3A1-related disorder Supplemental_disease_name DISEASE_NAME:slc3a2_related_disorder SLC3A2-related disorder Supplemental_disease_name DISEASE_NAME:slc40a1_related_disorder SLC40A1-related disorder Supplemental_disease_name DISEASE_NAME:slc44a1_related_disorder SLC44A1-related disorder Supplemental_disease_name DISEASE_NAME:slc44a4_related_disorder SLC44A4-related disorder Supplemental_disease_name DISEASE_NAME:slc45a1_related_disorder SLC45A1-related disorder Supplemental_disease_name DISEASE_NAME:slc45a2_related_disorder SLC45A2-related disorder Supplemental_disease_name DISEASE_NAME:slc46a1_related_disorder SLC46A1-related disorder Supplemental_disease_name DISEASE_NAME:slc4a10_related_disorder SLC4A10-related disorder Supplemental_disease_name DISEASE_NAME:slc4a10_related_neurodevelopmental_disorder SLC4A10-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:slc4a11_related_disorder SLC4A11-related disorder Supplemental_disease_name DISEASE_NAME:slc4a1_related_disorder SLC4A1-related disorder Supplemental_disease_name DISEASE_NAME:slc4a3_related_disorder SLC4A3-related disorder Supplemental_disease_name DISEASE_NAME:slc4a4_related_disorder SLC4A4-related disorder Supplemental_disease_name DISEASE_NAME:slc4a5_related_disorder SLC4A5-related disorder Supplemental_disease_name DISEASE_NAME:slc4a7_related_disorder SLC4A7-related disorder Supplemental_disease_name DISEASE_NAME:slc51a_related_disorder SLC51A-related disorder Supplemental_disease_name DISEASE_NAME:slc51b_related_disorder SLC51B-related disorder Supplemental_disease_name DISEASE_NAME:slc52a1_related_disorder SLC52A1-related disorder Supplemental_disease_name DISEASE_NAME:slc52a2_related_disorder SLC52A2-related disorder Supplemental_disease_name DISEASE_NAME:slc52a3_related_disorder SLC52A3-related disorder Supplemental_disease_name DISEASE_NAME:slc5a1_related_disorder SLC5A1-related disorder Supplemental_disease_name DISEASE_NAME:slc5a1_related_glucose_galactose_malabsorption SLC5A1-related glucose/galactose malabsorption Supplemental_disease_name DISEASE_NAME:slc5a2_related_disorder SLC5A2-related disorder Supplemental_disease_name DISEASE_NAME:slc5a5_related_disorder SLC5A5-related disorder Supplemental_disease_name DISEASE_NAME:slc5a6_related_disorder SLC5A6-related disorder Supplemental_disease_name DISEASE_NAME:slc5a7_related_disorder SLC5A7-related disorder Supplemental_disease_name DISEASE_NAME:slc5a9_related_disorder SLC5A9-related disorder Supplemental_disease_name DISEASE_NAME:slc6a14_related_disorder SLC6A14-related disorder Supplemental_disease_name DISEASE_NAME:slc6a17_related_disorder SLC6A17-related disorder Supplemental_disease_name DISEASE_NAME:slc6a18_related_condition SLC6A18-related condition Supplemental_disease_name DISEASE_NAME:slc6a19_related_disorder SLC6A19-related disorder Supplemental_disease_name DISEASE_NAME:slc6a1_related_disorder SLC6A1-related disorder Supplemental_disease_name DISEASE_NAME:slc6a1_related_neurodevelopmental_condition SLC6A1-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:slc6a1_related_neurodevelopmental_disorder SLC6A1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:slc6a20_related_disorder SLC6A20-related disorder Supplemental_disease_name DISEASE_NAME:slc6a20_related_neurodevelopmental_disorder SLC6A20-related Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:slc6a2_related_disorder SLC6A2-related disorder Supplemental_disease_name DISEASE_NAME:slc6a3_related_disorder SLC6A3-related disorder Supplemental_disease_name DISEASE_NAME:slc6a4_related_disorder SLC6A4-related disorder Supplemental_disease_name DISEASE_NAME:slc6a5_related_disorder SLC6A5-related disorder Supplemental_disease_name DISEASE_NAME:slc6a8_related_disorder SLC6A8-related disorder Supplemental_disease_name DISEASE_NAME:slc6a9_related_disorder SLC6A9-related disorder Supplemental_disease_name DISEASE_NAME:slc7a14_related_disorder SLC7A14-related disorder Supplemental_disease_name DISEASE_NAME:slc7a2_related_disorder SLC7A2-related disorder Supplemental_disease_name DISEASE_NAME:slc7a3_related_disorder SLC7A3-related disorder Supplemental_disease_name DISEASE_NAME:slc7a5_related_disorder SLC7A5-related disorder Supplemental_disease_name DISEASE_NAME:slc7a6_related_disorder SLC7A6-related disorder Supplemental_disease_name DISEASE_NAME:slc7a7_related_disorder SLC7A7-related disorder Supplemental_disease_name DISEASE_NAME:slc7a9_related_disorder SLC7A9-related disorder Supplemental_disease_name DISEASE_NAME:slc9a1_related_disorder SLC9A1-related disorder Supplemental_disease_name DISEASE_NAME:slc9a3_related_disorder SLC9A3-related disorder Supplemental_disease_name DISEASE_NAME:slc9a6_related_disorder SLC9A6-related disorder Supplemental_disease_name DISEASE_NAME:slc9a7_related_disorder SLC9A7-related disorder Supplemental_disease_name DISEASE_NAME:slc9a7_related_neurodevelopmental_disorder SLC9A7-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:slc9a9_related_disorder SLC9A9-related disorder Supplemental_disease_name DISEASE_NAME:slco1b1_related_disorder SLCO1B1-related disorder Supplemental_disease_name DISEASE_NAME:slco1b3_related_disorder SLCO1B3-related disorder Supplemental_disease_name DISEASE_NAME:slco2a1_related_disorder SLCO2A1-related disorder Supplemental_disease_name DISEASE_NAME:slco5a1_related_disorder SLCO5A1-related disorder Supplemental_disease_name DISEASE_NAME:sleep_disturbance Sleep disturbance Supplemental_disease_name DISEASE_NAME:slender_long_bone_hyperparathyroidism_embryonic_calcium_dysregulation_metaphyseal_fractures Slender long bone;Hyperparathyroidism;Embryonic calcium dysregulation;Metaphyseal fractures Supplemental_disease_name DISEASE_NAME:slf2_related_disorder SLF2-related disorder Supplemental_disease_name DISEASE_NAME:slfn14_related_disorder SLFN14-related disorder Supplemental_disease_name DISEASE_NAME:slit2_related_disorder SLIT2-related disorder Supplemental_disease_name DISEASE_NAME:slit3_related_anomalies_of_the_kidney_and_urinary_tract SLIT3-related anomalies of the kidney and urinary tract Supplemental_disease_name DISEASE_NAME:slit3_related_disorder SLIT3-related disorder Supplemental_disease_name DISEASE_NAME:slitrk1_related_disorder SLITRK1-related disorder Supplemental_disease_name DISEASE_NAME:slitrk2_related_condition SLITRK2-related condition Supplemental_disease_name DISEASE_NAME:slitrk5_related_disorder SLITRK5-related disorder Supplemental_disease_name DISEASE_NAME:slitrk6_related_disorder SLITRK6-related disorder Supplemental_disease_name DISEASE_NAME:slmap_related_disorder SLMAP-related disorder Supplemental_disease_name DISEASE_NAME:slow_acetylator_due_to_n_acetyltransferase_enzyme_variant Slow acetylator due to N-acetyltransferase enzyme variant Supplemental_disease_name DISEASE_NAME:slow_channel_congenital_myasthenia_syndrome Slow-Channel Congenital Myasthenia Syndrome Supplemental_disease_name DISEASE_NAME:slurp1_related_disorder SLURP1-related disorder Supplemental_disease_name DISEASE_NAME:slurred_speech Slurred speech Supplemental_disease_name DISEASE_NAME:slurred_speech_limb_ataxia Slurred speech;Limb ataxia Supplemental_disease_name DISEASE_NAME:slurred_speech_movement_disorder_atypical_behavior_progressive_gait_ataxia Slurred speech;Movement disorder;Atypical behavior;Progressive gait ataxia Supplemental_disease_name DISEASE_NAME:slx4_related_disorder SLX4-related disorder Supplemental_disease_name DISEASE_NAME:smad1_related_disorder SMAD1-related disorder Supplemental_disease_name DISEASE_NAME:smad2_congenital_heart_disease_and_multiple_congenital_anomaly_disorder SMAD2-congenital heart disease and multiple congenital anomaly disorder Supplemental_disease_name DISEASE_NAME:smad2_related_cardiac_disorders SMAD2-related cardiac disorders Supplemental_disease_name DISEASE_NAME:smad2_related_disorder SMAD2-related disorder Supplemental_disease_name DISEASE_NAME:smad2_related_loeys_dietz_syndrome SMAD2- related Loeys-Dietz syndrome Supplemental_disease_name DISEASE_NAME:smad3_related_disorder SMAD3-related disorder Supplemental_disease_name DISEASE_NAME:smad4_related_disorder SMAD4-related disorder Supplemental_disease_name DISEASE_NAME:smad6_related_disease SMAD6-related disease Supplemental_disease_name DISEASE_NAME:smad7_related_disorder SMAD7-related disorder Supplemental_disease_name DISEASE_NAME:smad9_related_disorder SMAD9-related disorder Supplemental_disease_name DISEASE_NAME:small_atrial_septal_defect_single_ventricle small Atrial septal defect;Single ventricle Supplemental_disease_name DISEASE_NAME:small_cell_carcinoma_of_the_ovary_hypercalcemic_type Small cell carcinoma of the ovary, hypercalcemic type Supplemental_disease_name DISEASE_NAME:small_cell_carcinoma_of_the_ovary_hypercalcemic_type_coffin_siris_syndrome Small cell carcinoma of the ovary, hypercalcemic type;Coffin-Siris syndrome Supplemental_disease_name DISEASE_NAME:small_cell_carcinoma_of_the_ovary_hypercalcemic_type_intellectual_disability_autosomal_dominant_16 Small cell carcinoma of the ovary, hypercalcemic type;Intellectual disability, autosomal dominant 16 Supplemental_disease_name DISEASE_NAME:small_cell_carcinoma_of_the_ovary_hypercalcemic_type_rhabdoid_tumor_predisposition_syndrome_2_intellectual_disability_autosomal_dominant_16 Small cell carcinoma of the ovary, hypercalcemic type;Rhabdoid tumor predisposition syndrome 2;Intellectual disability, autosomal dominant 16 Supplemental_disease_name DISEASE_NAME:small_cell_lung_cancer_carcinoma Small cell lung cancer/carcinoma Supplemental_disease_name DISEASE_NAME:small_cell_lung_carcinoma Small cell lung carcinoma Supplemental_disease_name DISEASE_NAME:small_cell_lung_carcinoma_bone_osteosarcoma_malignant_tumor_of_urinary_bladder_retinoblastoma Small cell lung carcinoma;Bone osteosarcoma;Malignant tumor of urinary bladder;Retinoblastoma Supplemental_disease_name DISEASE_NAME:small_cell_lung_carcinoma_bone_osteosarcoma_retinoblastoma_malignant_tumor_of_urinary_bladder Small cell lung carcinoma;Bone osteosarcoma;Retinoblastoma;Malignant tumor of urinary bladder Supplemental_disease_name DISEASE_NAME:small_cell_lung_carcinoma_retinoblastoma_bone_osteosarcoma_malignant_tumor_of_urinary_bladder Small cell lung carcinoma;Retinoblastoma;Bone osteosarcoma;Malignant tumor of urinary bladder Supplemental_disease_name DISEASE_NAME:small_for_gestational_age Small for gestational age Supplemental_disease_name DISEASE_NAME:small_for_gestational_age_2_3_toe_syndactyly_elevated_circulating_7_dehydrocholesterol_concentration_primary_microcephaly Small for gestational age;2-3 toe syndactyly;Elevated circulating 7-dehydrocholesterol concentration;Primary microcephaly Supplemental_disease_name DISEASE_NAME:small_for_gestational_age_feeding_difficulties_failure_to_thrive Small for gestational age;Feeding difficulties;Failure to thrive Supplemental_disease_name DISEASE_NAME:small_intestine_carcinoid Small intestine carcinoid Supplemental_disease_name DISEASE_NAME:small_round_cell_tumor SMALL ROUND CELL TUMOR Supplemental_disease_name DISEASE_NAME:small_vessel_cerebrovascular_disease Small vessel cerebrovascular disease Supplemental_disease_name DISEASE_NAME:smarca1_related_disorder SMARCA1-related disorder Supplemental_disease_name DISEASE_NAME:smarca2_related_bafopathy SMARCA2-related BAFopathy Supplemental_disease_name DISEASE_NAME:smarca2_related_disorder SMARCA2-related disorder Supplemental_disease_name DISEASE_NAME:smarca4_related_bafopathy SMARCA4-related BAFopathy Supplemental_disease_name DISEASE_NAME:smarca4_related_disorder SMARCA4-related disorder Supplemental_disease_name DISEASE_NAME:smarca5_associated_neurodevelopmental_disorder SMARCA5-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:smarca5_related_disorder SMARCA5-related disorder Supplemental_disease_name DISEASE_NAME:smarcad1_related_disorder SMARCAD1-related disorder Supplemental_disease_name DISEASE_NAME:smarcal1_related_disorder SMARCAL1-related disorder Supplemental_disease_name DISEASE_NAME:smarcb1_related_bafopathy SMARCB1-related BAFopathy Supplemental_disease_name DISEASE_NAME:smarcb1_related_disorder SMARCB1-related disorder Supplemental_disease_name DISEASE_NAME:smarcb1_related_schwannomatosis_intellectual_disability_autosomal_dominant_15_rhabdoid_tumor_predisposition_syndrome_1 SMARCB1-related schwannomatosis;Intellectual disability, autosomal dominant 15;Rhabdoid tumor predisposition syndrome 1 Supplemental_disease_name DISEASE_NAME:smarcb1_related_schwannomatosis_neurofibromatosis_type_2_familial_meningioma SMARCB1-related schwannomatosis;Neurofibromatosis, type 2;Familial meningioma Supplemental_disease_name DISEASE_NAME:smarcb1_related_schwannomatosis_rhabdoid_tumor_predisposition_syndrome_1_intellectual_disability_autosomal_dominant_15 SMARCB1-related schwannomatosis;Rhabdoid tumor predisposition syndrome 1;Intellectual disability, autosomal dominant 15 Supplemental_disease_name DISEASE_NAME:smarcc1_associated_developmental_dysgenesis_syndrome SMARCC1-associated developmental dysgenesis syndrome Supplemental_disease_name DISEASE_NAME:smarcc1_related_disorder SMARCC1-related disorder Supplemental_disease_name DISEASE_NAME:smarcc2_related_bafopathy SMARCC2-related BAFopathy Supplemental_disease_name DISEASE_NAME:smarcc2_related_disorder SMARCC2-related disorder Supplemental_disease_name DISEASE_NAME:smarcc2_related_neurodevelopmental_disorder SMARCC2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:smarcd2_related_disorder SMARCD2-related disorder Supplemental_disease_name DISEASE_NAME:smarce1_related_disorder SMARCE1-related disorder Supplemental_disease_name DISEASE_NAME:smc1a_related_cohesinopathy SMC1A-related cohesinopathy Supplemental_disease_name DISEASE_NAME:smc1a_related_disorder SMC1A-related disorder Supplemental_disease_name DISEASE_NAME:smc3_related_disorder SMC3-related disorder Supplemental_disease_name DISEASE_NAME:smchd1_related_disorder SMCHD1-related disorder Supplemental_disease_name DISEASE_NAME:smg8_related_disorder SMG8-related disorder Supplemental_disease_name DISEASE_NAME:smg9_related_disorder SMG9-related disorder Supplemental_disease_name DISEASE_NAME:smim1_related_disorder SMIM1-related disorder Supplemental_disease_name DISEASE_NAME:smith_kingsmore_syndrome Smith-Kingsmore syndrome Supplemental_disease_name DISEASE_NAME:smith_magenis_syndrome_17p11_2_microduplication_syndrome Smith-Magenis syndrome;17p11.2 microduplication syndrome Supplemental_disease_name DISEASE_NAME:smith_magenis_syndrome_like Smith-Magenis Syndrome-like Supplemental_disease_name DISEASE_NAME:smith_magenis_syndrome_pmp22_rai1_contiguous_gene_duplication_syndrome_deafness Smith-Magenis syndrome;PMP22-RAI1 contiguous gene duplication syndrome;Deafness Supplemental_disease_name DISEASE_NAME:smo_related_disorder SMO-related disorder Supplemental_disease_name DISEASE_NAME:smoc1_related_disorder SMOC1-related disorder Supplemental_disease_name DISEASE_NAME:smoc2_related_disorder SMOC2-related disorder Supplemental_disease_name DISEASE_NAME:smoking_as_a_quantitative_trait_locus_3 SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 Supplemental_disease_name DISEASE_NAME:smoking_as_a_quantitative_trait_locus_3_urinary_bladder_atony_of SMOKING AS A QUANTITATIVE TRAIT LOCUS 3;Urinary bladder, atony of Supplemental_disease_name DISEASE_NAME:smpd1_related_disorder SMPD1-related disorder Supplemental_disease_name DISEASE_NAME:smpx_related_disorder SMPX-related disorder Supplemental_disease_name DISEASE_NAME:sms_related_disorder SMS-related disorder Supplemental_disease_name DISEASE_NAME:smurf2_related_disorder SMURF2-related disorder Supplemental_disease_name DISEASE_NAME:snai2_related_disorder SNAI2-related disorder Supplemental_disease_name DISEASE_NAME:snap25_related_developmental_delays_and_epileptic_encephalopathies SNAP25-related developmental delays and epileptic encephalopathies Supplemental_disease_name DISEASE_NAME:snap25_related_disorder SNAP25-related disorder Supplemental_disease_name DISEASE_NAME:snap25_related_early_onset_developmental_and_epileptic_encephalopathy SNAP25-related early-onset developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:snap25_related_neurodevelopmental_disorder SNAP25 related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:snap29_related_disorder SNAP29-related disorder Supplemental_disease_name DISEASE_NAME:snapc4_related_condition SNAPC4 related condition Supplemental_disease_name DISEASE_NAME:snca_related_disorder SNCA-related disorder Supplemental_disease_name DISEASE_NAME:sncb_related_disorder SNCB-related disorder Supplemental_disease_name DISEASE_NAME:snd1_related_disorder SND1-related disorder Supplemental_disease_name DISEASE_NAME:sneddon_syndrome_deficiency_of_adenosine_deaminase_2 Sneddon syndrome;Deficiency of adenosine deaminase 2 Supplemental_disease_name DISEASE_NAME:snf8_associated_disease SNF8-associated disease Supplemental_disease_name DISEASE_NAME:snijders_blok_fisher_syndrome Snijders Blok-Fisher syndrome Supplemental_disease_name DISEASE_NAME:snip1_related_disorder SNIP1-related disorder Supplemental_disease_name DISEASE_NAME:snowflake_vitreoretinal_degeneration_leber_congenital_amaurosis_16 Snowflake vitreoretinal degeneration;Leber congenital amaurosis 16 Supplemental_disease_name DISEASE_NAME:snrnp200_related_disorder SNRNP200-related disorder Supplemental_disease_name DISEASE_NAME:snrnp200_related_retinal_disorder SNRNP200-related retinal disorder Supplemental_disease_name DISEASE_NAME:snrpa_related_disorder SNRPA-related disorder Supplemental_disease_name DISEASE_NAME:snrpb_related_disorder SNRPB-related disorder Supplemental_disease_name DISEASE_NAME:snrpe_related_disorder SNRPE-related disorder Supplemental_disease_name DISEASE_NAME:snrpn_related_condition SNRPN-related condition Supplemental_disease_name DISEASE_NAME:snta1_related_disorder SNTA1-related disorder Supplemental_disease_name DISEASE_NAME:sntg1_related_disorder SNTG1-related disorder Supplemental_disease_name DISEASE_NAME:snupn_deficiency_muscular_dystrophy SNUPN deficiency muscular dystrophy Supplemental_disease_name DISEASE_NAME:snw1_associated_neurodevelopmental_disorder SNW1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:snx10_related_disorder SNX10-related disorder Supplemental_disease_name DISEASE_NAME:snx14_related_disorder SNX14-related disorder Supplemental_disease_name DISEASE_NAME:snx17_related_disorder SNX17-related disorder Supplemental_disease_name DISEASE_NAME:snx25_related_autism_spectrum_disorder SNX25-related autism spectrum disorder Supplemental_disease_name DISEASE_NAME:snx27_related_disorder SNX27-related disorder Supplemental_disease_name DISEASE_NAME:snx3_related_disorder SNX3-related disorder Supplemental_disease_name DISEASE_NAME:sobp_related_disorder SOBP-related disorder Supplemental_disease_name DISEASE_NAME:socs1_related_disorder SOCS1-related disorder Supplemental_disease_name DISEASE_NAME:sod1_related_disorder SOD1-related disorder Supplemental_disease_name DISEASE_NAME:sod2_polymorphism SOD2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:sod3_related_disorder SOD3-related disorder Supplemental_disease_name DISEASE_NAME:sodium_serum_level_quantitative_trait_locus_1 Sodium serum level quantitative trait locus 1 Supplemental_disease_name DISEASE_NAME:sohlh1_related_disorder SOHLH1-related disorder Supplemental_disease_name DISEASE_NAME:sohlh2_related_disorder SOHLH2-related disorder Supplemental_disease_name DISEASE_NAME:solid_pseudopapillary_neoplasm_of_the_pancreas Solid pseudopapillary neoplasm of the pancreas Supplemental_disease_name DISEASE_NAME:solid_tumor Solid tumor Supplemental_disease_name DISEASE_NAME:solitary_median_maxillary_central_incisor_syndrome Solitary median maxillary central incisor syndrome Supplemental_disease_name DISEASE_NAME:soluble_interleukin_6_receptor_serum_level_of_quantitative_trait_locus Soluble interleukin-6 receptor, serum level of, quantitative trait locus Supplemental_disease_name DISEASE_NAME:somatic_sensory_dysfunction_global_developmental_delay_attention_deficit_hyperactivity_disorder_specific_learning_disability Somatic sensory dysfunction;Global developmental delay;Attention deficit hyperactivity disorder;Specific learning disability Supplemental_disease_name DISEASE_NAME:somatotroph_adenoma_pituitary_dependent_hypercortisolism Somatotroph adenoma;Pituitary dependent hypercortisolism Supplemental_disease_name DISEASE_NAME:son_related_disorder SON-related disorder Supplemental_disease_name DISEASE_NAME:sorafenib_response_toxicity sorafenib response - Toxicity Supplemental_disease_name DISEASE_NAME:sorbs1_associated_hirschsprung_disease SORBS1-associated Hirschsprung disease Supplemental_disease_name DISEASE_NAME:sorcs3_related_disorder SORCS3-related disorder Supplemental_disease_name DISEASE_NAME:sorl1_related_disorder SORL1-related disorder Supplemental_disease_name DISEASE_NAME:sorsby_fundus_dystrophy Sorsby fundus dystrophy Supplemental_disease_name DISEASE_NAME:sort1_related_disorder SORT1-related disorder Supplemental_disease_name DISEASE_NAME:sos1_related_disorder SOS1-related disorder Supplemental_disease_name DISEASE_NAME:sos2_related_disorder SOS2-related disorder Supplemental_disease_name DISEASE_NAME:sost_related_disorder SOST-related disorder Supplemental_disease_name DISEASE_NAME:sotos_syndrome_acute_myeloid_leukemia Sotos syndrome;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:southeast_asian_ovalocytosis Southeast Asian ovalocytosis Supplemental_disease_name DISEASE_NAME:sox10_related_disorder SOX10-related disorder Supplemental_disease_name DISEASE_NAME:sox11_related_disorder SOX11-related disorder Supplemental_disease_name DISEASE_NAME:sox17_related_disorder SOX17-related disorder Supplemental_disease_name DISEASE_NAME:sox17_related_disorders Sox17- related disorders Supplemental_disease_name DISEASE_NAME:sox17_related_pulmonary_arterial_hypertension SOX17-related pulmonary arterial hypertension Supplemental_disease_name DISEASE_NAME:sox18_related_disorder SOX18-related disorder Supplemental_disease_name DISEASE_NAME:sox1_related_disorder SOX1-related disorder Supplemental_disease_name DISEASE_NAME:sox2_related_disorder SOX2-related disorder Supplemental_disease_name DISEASE_NAME:sox3_related_disorder SOX3-related disorder Supplemental_disease_name DISEASE_NAME:sox4_related_disorder SOX4-related disorder Supplemental_disease_name DISEASE_NAME:sox4_related_neurodevelopmental_disorder SOX4-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:sox5_related_disorder SOX5-related disorder Supplemental_disease_name DISEASE_NAME:sox6_related_disorder SOX6-related disorder Supplemental_disease_name DISEASE_NAME:sox7_related_disorder SOX7-related disorder Supplemental_disease_name DISEASE_NAME:sox8_related_disorder SOX8-related disorder Supplemental_disease_name DISEASE_NAME:sox9_related_disorder SOX9-related disorder Supplemental_disease_name DISEASE_NAME:sp110_related_disorder SP110-related disorder Supplemental_disease_name DISEASE_NAME:sp4_related_disorder SP4-related disorder Supplemental_disease_name DISEASE_NAME:sp7_related_disorder SP7-related disorder Supplemental_disease_name DISEASE_NAME:sp8_related_disorder SP8-related disorder Supplemental_disease_name DISEASE_NAME:sp9_associated_disorder SP9-associated disorder Supplemental_disease_name DISEASE_NAME:spag16_related_disorder SPAG16-related disorder Supplemental_disease_name DISEASE_NAME:spag17_related_disorder SPAG17-related disorder Supplemental_disease_name DISEASE_NAME:spag1_related_disorder SPAG1-related disorder Supplemental_disease_name DISEASE_NAME:spag6_related_disorder SPAG6-related disorder Supplemental_disease_name DISEASE_NAME:sparc_related_disorder SPARC-related disorder Supplemental_disease_name DISEASE_NAME:sparcl1_related_disorder SPARCL1-related disorder Supplemental_disease_name DISEASE_NAME:sparse_hair_microcephaly_movement_disorder Sparse hair;Microcephaly;Movement disorder Supplemental_disease_name DISEASE_NAME:sparse_hair_severe_intellectual_disability_microcephaly_movement_disorder Sparse hair;Severe intellectual disability;Microcephaly;Movement disorder Supplemental_disease_name DISEASE_NAME:spart_related_disorder SPART-related disorder Supplemental_disease_name DISEASE_NAME:spast_related_disorder SPAST-related disorder Supplemental_disease_name DISEASE_NAME:spast_related_spastic_paraplegia SPAST-related spastic paraplegia Supplemental_disease_name DISEASE_NAME:spastic_ataxia_10_autosomal_recessive Spastic ataxia 10, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_ataxia_10_autosomal_recessive_neonatal_encephalomyopathy_cardiomyopathy_respiratory_distress_syndrome Spastic ataxia 10, autosomal recessive;Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Supplemental_disease_name DISEASE_NAME:spastic_ataxia_11_autosomal_dominant Spastic ataxia 11, autosomal dominant Supplemental_disease_name DISEASE_NAME:spastic_ataxia_1_myasthenic_syndrome_congenital_25_presynaptic Spastic ataxia 1;Myasthenic syndrome, congenital, 25, presynaptic Supplemental_disease_name DISEASE_NAME:spastic_ataxia_3_combined_oxidative_phosphorylation_defect_type_25 Spastic ataxia 3;Combined oxidative phosphorylation defect type 25 Supplemental_disease_name DISEASE_NAME:spastic_ataxia_5_optic_atrophy_12_spinocerebellar_ataxia_type_28 Spastic ataxia 5;Optic atrophy 12;Spinocerebellar ataxia type 28 Supplemental_disease_name DISEASE_NAME:spastic_ataxia_8_autosomal_recessive_with_hypomyelinating_leukodystrophy Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy Supplemental_disease_name DISEASE_NAME:spastic_ataxia_9_autosomal_recessive Spastic ataxia 9, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_ataxia_cerebellar_ataxia Spastic ataxia;Cerebellar ataxia Supplemental_disease_name DISEASE_NAME:spastic_ataxia_sensorimotor_neuropathy Spastic ataxia;Sensorimotor neuropathy Supplemental_disease_name DISEASE_NAME:spastic_paraglegia_10 Spastic Paraglegia 10 Supplemental_disease_name DISEASE_NAME:spastic_paraparesis Spastic paraparesis Supplemental_disease_name DISEASE_NAME:spastic_paraparesis_cataracts_speech_delay_syndrome Spastic paraparesis-cataracts-speech delay syndrome Supplemental_disease_name DISEASE_NAME:spastic_paraparesis_cataracts_speech_delay_syndrome_fatty_acyl_coa_reductase_1_deficiency Spastic paraparesis-cataracts-speech delay syndrome;Fatty acyl-CoA reductase 1 deficiency Supplemental_disease_name DISEASE_NAME:spastic_paraparesis_cerebellar_ataxia_intention_tremor_dysarthria_mild_global_developmental_delay Spastic paraparesis;Cerebellar ataxia;Intention tremor;Dysarthria;Mild global developmental delay Supplemental_disease_name DISEASE_NAME:spastic_paraparesis_cerebral_cortical_atrophy_dysarthria_gait_ataxia Spastic paraparesis;Cerebral cortical atrophy;Dysarthria;Gait ataxia Supplemental_disease_name DISEASE_NAME:spastic_paraplegia Spastic paraplegia Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_18a_autosomal_dominant Spastic paraplegia 18a, autosomal dominant Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_18b_autosomal_recessive Spastic paraplegia 18b, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_2_mild_late_onset Spastic Paraplegia 2, mild, late onset Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_30a_autosomal_dominant Spastic paraplegia 30A, autosomal dominant Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_30a_autosomal_dominant_intellectual_disability_autosomal_dominant_9 Spastic paraplegia 30A, autosomal dominant;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_30b_autosomal_recessive Spastic paraplegia 30B, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_30b_autosomal_recessive_hereditary_spastic_paraplegia_30_intellectual_disability_autosomal_dominant_9 Spastic paraplegia 30B, autosomal recessive;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_30b_autosomal_recessive_hereditary_spastic_paraplegia_30_neuropathy_hereditary_sensory_type_2c_intellectual_disability_autosomal_dominant_9 Spastic paraplegia 30B, autosomal recessive;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_52 Spastic Paraplegia 52 Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_69_spg69 spastic paraplegia 69 (SPG69) Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_72b_autosomal_recessive Spastic paraplegia 72b, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_79a_autosomal_dominant_with_ataxia Spastic paraplegia 79A, autosomal dominant, with ataxia Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_83_autosomal_recessive_neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities Spastic paraplegia 83, autosomal recessive;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_84_autosomal_recessive_gastrointestinal_defects_and_immunodeficiency_syndrome_2_polymicrogyria_perisylvian_with_cerebellar_hypoplasia_and_arthrogryposis Spastic paraplegia 84, autosomal recessive;Gastrointestinal defects and immunodeficiency syndrome 2;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_84_autosomal_recessive_polymicrogyria_perisylvian_with_cerebellar_hypoplasia_and_arthrogryposis Spastic paraplegia 84, autosomal recessive;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_87_autosomal_recessive Spastic paraplegia 87, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_88_autosomal_dominant Spastic paraplegia 88, autosomal dominant Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_89_autosomal_recessive Spastic paraplegia 89, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_90a_autosomal_dominant Spastic paraplegia 90A, autosomal dominant Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_90b_autosomal_recessive Spastic paraplegia 90B, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia_developmental_delay_with_or_without_epilepsy Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia;Developmental delay with or without epilepsy Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia_developmental_delay_with_or_without_epilepsy_neuronopathy_distal_hereditary_motor_autosomal_dominant_11_developmental_and_epileptic_encephalopathy_5 Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia;Developmental delay with or without epilepsy;Neuronopathy, distal hereditary motor, autosomal dominant 11;Developmental and epileptic encephalopathy, 5 Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia_neuronopathy_distal_hereditary_motor_autosomal_dominant_11 Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia;Neuronopathy, distal hereditary motor, autosomal dominant 11 Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_92_autosomal_recessive Spastic paraplegia 92, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_93_autosomal_recessive Spastic paraplegia 93, autosomal recessive Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_autosomal_dominant Spastic paraplegia, autosomal dominant Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_combined_oxidative_phosphorylation_defect_type_7 Spastic paraplegia;Combined oxidative phosphorylation defect type 7 Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_intellectual_disability_nystagmus_and_obesity Spastic paraplegia, intellectual disability, nystagmus, and obesity Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_intellectual_disability_nystagmus_and_obesity_ventriculomegaly_and_arthrogryposis Spastic paraplegia, intellectual disability, nystagmus, and obesity;Ventriculomegaly and arthrogryposis Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_mitochondrial Spastic paraplegia, mitochondrial Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_paget_disease_of_bone_syndrome Spastic paraplegia-Paget disease of bone syndrome Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_recessive Spastic Paraplegia, Recessive Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_seizure_memory_impairment_gait_ataxia Spastic paraplegia;Seizure;Memory impairment;Gait ataxia Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_severe_developmental_delay_epilepsy_syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome Supplemental_disease_name DISEASE_NAME:spastic_paraplegia_spastic_gait Spastic paraplegia;Spastic gait Supplemental_disease_name DISEASE_NAME:spastic_tetraparesis Spastic tetraparesis Supplemental_disease_name DISEASE_NAME:spastic_tetraplegia_and_axial_hypotonia_progressive Spastic tetraplegia and axial hypotonia, progressive Supplemental_disease_name DISEASE_NAME:spastic_tetraplegia_and_axial_hypotonia_progressive_amyotrophic_lateral_sclerosis_type_1 Spastic tetraplegia and axial hypotonia, progressive;Amyotrophic lateral sclerosis type 1 Supplemental_disease_name DISEASE_NAME:spastic_tetraplegia_thin_corpus_callosum_progressive_postnatal_microcephaly_syndrome Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Supplemental_disease_name DISEASE_NAME:spasticity Spasticity Supplemental_disease_name DISEASE_NAME:spasticity_ataxia_gait_anomalies_syndrome Spasticity-ataxia-gait anomalies syndrome Supplemental_disease_name DISEASE_NAME:spasticity_ataxia_gait_anomalies_syndrome_sideroblastic_anemia_3 Spasticity-ataxia-gait anomalies syndrome;Sideroblastic anemia 3 Supplemental_disease_name DISEASE_NAME:spasticity_bilateral_tonic_clonic_seizure_global_developmental_delay_infantile_spasms_secondary_microcephaly Spasticity;Bilateral tonic-clonic seizure;Global developmental delay;Infantile spasms;Secondary microcephaly Supplemental_disease_name DISEASE_NAME:spasticity_respiratory_distress_tongue_fasciculations Spasticity;Respiratory distress;Tongue fasciculations Supplemental_disease_name DISEASE_NAME:spata13_related_disorder SPATA13-related disorder Supplemental_disease_name DISEASE_NAME:spata16_related_disorder SPATA16-related disorder Supplemental_disease_name DISEASE_NAME:spata5_related_disorder SPATA5-related disorder Supplemental_disease_name DISEASE_NAME:spata5_related_neurodevelopmental_disorder SPATA5-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:spata5l1_associated_disorder SPATA5L1-associated disorder Supplemental_disease_name DISEASE_NAME:spata5l1_related_disorder SPATA5L1-related disorder Supplemental_disease_name DISEASE_NAME:spata7_related_disorder SPATA7-related disorder Supplemental_disease_name DISEASE_NAME:spc24_related_disorder SPC24-related disorder Supplemental_disease_name DISEASE_NAME:specc1l_related_disorder SPECC1L-related disorder Supplemental_disease_name DISEASE_NAME:specc1l_related_syndrome SPECC1L-related syndrome Supplemental_disease_name DISEASE_NAME:specific_granule_deficiency Specific granule deficiency Supplemental_disease_name DISEASE_NAME:specific_granule_deficiency_1 Specific granule deficiency 1 Supplemental_disease_name DISEASE_NAME:specific_granule_deficiency_1_autosomal_dominant SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT Supplemental_disease_name DISEASE_NAME:specific_granule_deficiency_1_autosomal_recessive_severe_congenital_neutropenia Specific granule deficiency 1;Autosomal recessive severe congenital neutropenia Supplemental_disease_name DISEASE_NAME:specific_granule_deficiency_2 Specific granule deficiency 2 Supplemental_disease_name DISEASE_NAME:specific_language_impairment_5 Specific language impairment 5 Supplemental_disease_name DISEASE_NAME:specific_learning_disability Specific learning disability Supplemental_disease_name DISEASE_NAME:specific_learning_disability_dystonic_disorder_myoclonus_dysarthria_abnormality_of_metabolism_homeostasis Specific learning disability;Dystonic disorder;Myoclonus;Dysarthria;Abnormality of metabolism/homeostasis Supplemental_disease_name DISEASE_NAME:spectraplakinopathy_type_i Spectraplakinopathy type I Supplemental_disease_name DISEASE_NAME:speech_and_developmental_delay Speech and developmental delay Supplemental_disease_name DISEASE_NAME:speech_and_developmental_delays Speech and developmental delays Supplemental_disease_name DISEASE_NAME:speech_apraxia Speech apraxia Supplemental_disease_name DISEASE_NAME:speech_language_disorder Speech-language disorder Supplemental_disease_name DISEASE_NAME:spef2_related_disorder SPEF2-related disorder Supplemental_disease_name DISEASE_NAME:speg_related_congenital_myopathy SPEG-related congenital myopathy Supplemental_disease_name DISEASE_NAME:speg_related_disorder SPEG-related disorder Supplemental_disease_name DISEASE_NAME:spen_related_disorder SPEN-related disorder Supplemental_disease_name DISEASE_NAME:spen_related_neurodevelopmental_disorder SPEN-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:sperm_axonema_without_dynein_arms_and_nexin_bridges_axonemas_with_defects_on_microtubules_primary_ciliary_dyskinesia_15 sperm axonema without dynein arms and nexin bridges;axonemas with defects on microtubules;Primary ciliary dyskinesia 15 Supplemental_disease_name DISEASE_NAME:spermatocyte_maturation_arrest Spermatocyte maturation arrest Supplemental_disease_name DISEASE_NAME:spermatogenesis_maturation_arrest Spermatogenesis maturation arrest Supplemental_disease_name DISEASE_NAME:spermatogenesis_maturation_arrest_non_obstructive_azoospermia Spermatogenesis maturation arrest;Non-obstructive azoospermia Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_103 SPERMATOGENIC FAILURE 103 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_18_ciliary_dyskinesia_primary_37 Spermatogenic failure 18;Ciliary dyskinesia, primary, 37 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_28_premature_ovarian_failure_15 Spermatogenic failure 28;Premature ovarian failure 15 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_50_fanconi_anemia_complementation_group_u_premature_ovarian_failure_17 Spermatogenic failure 50;Fanconi anemia complementation group U;Premature ovarian failure 17 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_50_premature_ovarian_failure_17_fanconi_anemia_complementation_group_u Spermatogenic failure 50;Premature ovarian failure 17;Fanconi anemia complementation group U Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_52_premature_ovarian_failure_18 Spermatogenic failure 52;Premature ovarian failure 18 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_71_ovarian_dysgenesis_10 Spermatogenic failure 71;Ovarian dysgenesis 10 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_72_asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4_nephronophthisis_13_senior_loken_syndrome_8 Spermatogenic failure 72;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4;Nephronophthisis 13;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_72_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_cranioectodermal_dysplasia_4_senior_loken_syndrome_8 Spermatogenic failure 72;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_72_cranioectodermal_dysplasia_4_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_senior_loken_syndrome_8 Spermatogenic failure 72;Cranioectodermal dysplasia 4;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_72_cranioectodermal_dysplasia_4_senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13 Spermatogenic failure 72;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_72_nephronophthisis_13_cranioectodermal_dysplasia_4_asphyxiating_thoracic_dystrophy_5_senior_loken_syndrome_8 Spermatogenic failure 72;Nephronophthisis 13;Cranioectodermal dysplasia 4;Asphyxiating thoracic dystrophy 5;Senior-Loken syndrome 8 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_72_senior_loken_syndrome_8_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13_cranioectodermal_dysplasia_4 Spermatogenic failure 72;Senior-Loken syndrome 8;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13;Cranioectodermal dysplasia 4 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_72_senior_loken_syndrome_8_cranioectodermal_dysplasia_4_asphyxiating_thoracic_dystrophy_5_nephronophthisis_13 Spermatogenic failure 72;Senior-Loken syndrome 8;Cranioectodermal dysplasia 4;Asphyxiating thoracic dystrophy 5;Nephronophthisis 13 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_72_senior_loken_syndrome_8_nephronophthisis_13_asphyxiating_thoracic_dystrophy_5_cranioectodermal_dysplasia_4 Spermatogenic failure 72;Senior-Loken syndrome 8;Nephronophthisis 13;Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia 4 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_74_premature_ovarian_failure_13 Spermatogenic failure 74;Premature ovarian failure 13 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_7_autosomal_recessive_nonsyndromic_hearing_loss_16_deafness_infertility_syndrome Spermatogenic failure 7;Autosomal recessive nonsyndromic hearing loss 16;Deafness-infertility syndrome Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_7_deafness_infertility_syndrome_autosomal_recessive_nonsyndromic_hearing_loss_16 Spermatogenic failure 7;Deafness-infertility syndrome;Autosomal recessive nonsyndromic hearing loss 16 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_80_primary_ciliary_dyskinesia_21 Spermatogenic failure 80;Primary ciliary dyskinesia 21 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_8_46_xy_sex_reversal_3_46_xx_sex_reversal_4_premature_ovarian_failure_7 Spermatogenic failure 8;46,XY sex reversal 3;46,XX sex reversal 4;Premature ovarian failure 7 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_8_46_xy_sex_reversal_3_premature_ovarian_failure_7_46_xx_sex_reversal_4 Spermatogenic failure 8;46,XY sex reversal 3;Premature ovarian failure 7;46,XX sex reversal 4 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_96_premature_ovarian_failure_25 Spermatogenic failure 96;Premature ovarian failure 25 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_98_ciliary_dyskinesia_primary_54 Spermatogenic failure 98;Ciliary dyskinesia, primary, 54 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_x_linked_2 Spermatogenic failure, X-linked, 2 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_x_linked_3 Spermatogenic failure, X-linked, 3 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_x_linked_4 Spermatogenic failure, X-linked, 4 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_x_linked_5 Spermatogenic failure, X-linked, 5 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_x_linked_6 Spermatogenic failure, X-linked, 6 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_x_linked_7 Spermatogenic failure, X-linked, 7 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_x_linked_8 Spermatogenic failure, X-linked, 8 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_x_linked_9 Spermatogenic failure, X-linked, 9 Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_y_linked_2 Spermatogenic failure, Y-linked, 2 Supplemental_disease_name DISEASE_NAME:spg11_related_disorder SPG11-related disorder Supplemental_disease_name DISEASE_NAME:spg11_related_spastic_paraplegia SPG11-related spastic paraplegia Supplemental_disease_name DISEASE_NAME:spg21_related_disorder SPG21-related disorder Supplemental_disease_name DISEASE_NAME:spg7_related_disorder SPG7-related disorder Supplemental_disease_name DISEASE_NAME:spherocytosis Spherocytosis Supplemental_disease_name DISEASE_NAME:spherocytosis_type_1_autosomal_recessive SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:spherocytosis_type_3_autosomal_recessive SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:sphingolipid_activator_protein_1_deficiency Sphingolipid activator protein 1 deficiency Supplemental_disease_name DISEASE_NAME:sphingolipid_activator_protein_1_deficiency_combined_psap_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to_krabbe_disease_due_to_saposin_a_deficiency_gaucher_disease_due_to_saposin_c_deficiency Sphingolipid activator protein 1 deficiency;Combined PSAP deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Krabbe disease due to saposin A deficiency;Gaucher disease due to saposin C deficiency Supplemental_disease_name DISEASE_NAME:sphingolipid_activator_protein_1_deficiency_gaucher_disease_due_to_saposin_c_deficiency_combined_psap_deficiency_krabbe_disease_due_to_saposin_a_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to Sphingolipid activator protein 1 deficiency;Gaucher disease due to saposin C deficiency;Combined PSAP deficiency;Krabbe disease due to saposin A deficiency;Parkinson disease 24, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:sphingolipid_activator_protein_1_deficiency_gaucher_disease_due_to_saposin_c_deficiency_krabbe_disease_due_to_saposin_a_deficiency_combined_psap_deficiency Sphingolipid activator protein 1 deficiency;Gaucher disease due to saposin C deficiency;Krabbe disease due to saposin A deficiency;Combined PSAP deficiency Supplemental_disease_name DISEASE_NAME:sphingolipid_activator_protein_1_deficiency_krabbe_disease_due_to_saposin_a_deficiency_combined_psap_deficiency_gaucher_disease_due_to_saposin_c_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to Sphingolipid activator protein 1 deficiency;Krabbe disease due to saposin A deficiency;Combined PSAP deficiency;Gaucher disease due to saposin C deficiency;Parkinson disease 24, autosomal dominant, susceptibility to Supplemental_disease_name DISEASE_NAME:sphingolipid_activator_protein_1_deficiency_parkinson_disease_24_autosomal_dominant_susceptibility_to_gaucher_disease_due_to_saposin_c_deficiency_krabbe_disease_due_to_saposin_a_deficiency_combined_psap_deficiency Sphingolipid activator protein 1 deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Gaucher disease due to saposin C deficiency;Krabbe disease due to saposin A deficiency;Combined PSAP deficiency Supplemental_disease_name DISEASE_NAME:sphingomyelin_cholesterol_lipidosis Sphingomyelin/cholesterol lipidosis Supplemental_disease_name DISEASE_NAME:spi1_related_condition SPI1-related condition Supplemental_disease_name DISEASE_NAME:spidr_related_disorder SPIDR-related disorder Supplemental_disease_name DISEASE_NAME:spina_bifida_folate_sensitive_susceptibility_to Spina bifida, folate-sensitive, susceptibility to Supplemental_disease_name DISEASE_NAME:spina_bifida_susceptibility_to Spina bifida, susceptibility to Supplemental_disease_name DISEASE_NAME:spinal_and_bulbar_muscular_atrophy Spinal and bulbar muscular atrophy Supplemental_disease_name DISEASE_NAME:spinal_cord_mass spinal cord mass Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_distal_autosomal_recessive_6 Spinal muscular atrophy, distal, autosomal recessive, 6 Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_distal_autosomal_recessive_6_neuronopathy_distal_hereditary_motor_type_5b_hereditary_spastic_paraplegia_31 Spinal muscular atrophy, distal, autosomal recessive, 6;Neuronopathy, distal hereditary motor, type 5B;Hereditary spastic paraplegia 31 Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_facioscapulohumeral_type Spinal muscular atrophy, facioscapulohumeral type Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_infantile_james_type Spinal muscular atrophy, infantile, James type Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_lower_extremity_predominant_2_ad Spinal muscular atrophy, lower extremity-predominant, 2, AD Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_lower_extremity_predominant_2b_prenatal_onset_autosomal_dominant Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_lower_extremity_predominant_2b_prenatal_onset_autosomal_dominant_autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_with_contractures Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant;Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_modifier_of Spinal muscular atrophy, modifier of Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_progressive_myoclonic_epilepsy_syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_progressive_myoclonic_epilepsy_syndrome_farber_lipogranulomatosis Spinal muscular atrophy-progressive myoclonic epilepsy syndrome;Farber lipogranulomatosis Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_type_ii_werdnig_hoffmann_disease Spinal muscular atrophy, type II;Werdnig-Hoffmann disease Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_type_ii_werdnig_hoffmann_disease_spinal_muscular_atrophy_type_iv_kugelberg_welander_disease Spinal muscular atrophy, type II;Werdnig-Hoffmann disease;Spinal muscular atrophy, type IV;Kugelberg-Welander disease Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_with_congenital_bone_fractures_1 Spinal muscular atrophy with congenital bone fractures 1 Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_with_congenital_bone_fractures_1_congenital_muscular_dystrophy_respiratory_failure_skin_abnormalities_joint_hyperlaxity_syndrome Spinal muscular atrophy with congenital bone fractures 1;Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_with_congenital_bone_fractures_2 Spinal muscular atrophy with congenital bone fractures 2 Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_with_lower_extremity_predominance_autosomal_dominant_childhood_onset_proximal_spinal_muscular_atrophy_without_contractures_charcot_marie_tooth_disease_axonal_type_2o Spinal muscular atrophy with lower extremity predominance;Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures;Charcot-Marie-Tooth disease axonal type 2O Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_with_lower_extremity_predominance_charcot_marie_tooth_disease_axonal_type_2o Spinal muscular atrophy with lower extremity predominance;Charcot-Marie-Tooth disease axonal type 2O Supplemental_disease_name DISEASE_NAME:spinal_muscular_atrophy_with_lower_extremity_predominance_charcot_marie_tooth_disease_axonal_type_2o_intellectual_disability_autosomal_dominant_13 Spinal muscular atrophy with lower extremity predominance;Charcot-Marie-Tooth disease axonal type 2O;Intellectual disability, autosomal dominant 13 Supplemental_disease_name DISEASE_NAME:spinal_neurofibroma Spinal neurofibroma Supplemental_disease_name DISEASE_NAME:spinal_rigidity_thoracic_kyphoscoliosis_bilateral_talipes_equinovarus_restrictive_ventilatory_defect_areflexia_of_lower_limbs Spinal rigidity;Thoracic kyphoscoliosis;Bilateral talipes equinovarus;Restrictive ventilatory defect;Areflexia of lower limbs Supplemental_disease_name DISEASE_NAME:spink1_related_disorder SPINK1-related disorder Supplemental_disease_name DISEASE_NAME:spink2_related_disorder SPINK2-related disorder Supplemental_disease_name DISEASE_NAME:spink5_polymorphism SPINK5 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:spink5_related_disorder SPINK5-related disorder Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_27a_spinocerebellar_ataxia_27b_late_onset Spinocerebellar ataxia 27A;Spinocerebellar ataxia 27B, late-onset Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_27b_late_onset Spinocerebellar ataxia 27B, late-onset Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_42_early_onset_severe_with_neurodevelopmental_deficits Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_42_early_onset_severe_with_neurodevelopmental_deficits_spinocerebellar_ataxia_type_42 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits;Spinocerebellar ataxia type 42 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_43 Spinocerebellar ataxia 43 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_43_charcot_marie_tooth_disease_axonal_type_2t Spinocerebellar ataxia 43;Charcot-Marie-Tooth disease axonal type 2T Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_44_autosomal_recessive_spinocerebellar_ataxia_13 Spinocerebellar ataxia 44;Autosomal recessive spinocerebellar ataxia 13 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_47 Spinocerebellar ataxia 47 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_47_pum1_associated_developmental_disability_ataxia_seizure_syndrome Spinocerebellar ataxia 47;PUM1-associated developmental disability-ataxia-seizure syndrome Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_48 Spinocerebellar ataxia 48 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_48_autosomal_recessive_spinocerebellar_ataxia_16 Spinocerebellar ataxia 48;Autosomal recessive spinocerebellar ataxia 16 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_49 Spinocerebellar ataxia 49 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_49_ataxia_pancytopenia_syndrome_monosomy_7_myelodysplasia_and_leukemia_syndrome_1 Spinocerebellar ataxia 49;Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_50 Spinocerebellar ataxia 50 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_51 Spinocerebellar ataxia 51 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_52 Spinocerebellar ataxia 52 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_22 Spinocerebellar ataxia, autosomal recessive 22 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_23 Spinocerebellar ataxia, autosomal recessive 23 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_24 Spinocerebellar ataxia, autosomal recessive 24 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_25 Spinocerebellar ataxia, autosomal recessive 25 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_26 Spinocerebellar ataxia, autosomal recessive 26 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_27 Spinocerebellar ataxia, autosomal recessive 27 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_28 Spinocerebellar ataxia, autosomal recessive 28 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_29 Spinocerebellar ataxia, autosomal recessive 29 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_30 Spinocerebellar ataxia, autosomal recessive 30 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_31 Spinocerebellar ataxia, autosomal recessive 31 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_32 Spinocerebellar ataxia, autosomal recessive 32 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_33 Spinocerebellar ataxia, autosomal recessive 33 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_2_amyotrophic_lateral_sclerosis_type_4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;Amyotrophic lateral sclerosis type 4 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_3 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_1 Spinocerebellar ataxia type 1 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_10 Spinocerebellar ataxia type 10 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_11 Spinocerebellar ataxia type 11 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_12 Spinocerebellar ataxia type 12 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_13 Spinocerebellar ataxia type 13 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_14 Spinocerebellar ataxia type 14 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_15_16 Spinocerebellar ataxia type 15/16 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_15_16_gillespie_syndrome Spinocerebellar ataxia type 15/16;Gillespie syndrome Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_15_16_gillespie_syndrome_spinocerebellar_ataxia_type_29 Spinocerebellar ataxia type 15/16;Gillespie syndrome;Spinocerebellar ataxia type 29 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_15_16_spinocerebellar_ataxia_type_29 Spinocerebellar ataxia type 15/16;Spinocerebellar ataxia type 29 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_15_16_spinocerebellar_ataxia_type_29_gillespie_syndrome Spinocerebellar ataxia type 15/16;Spinocerebellar ataxia type 29;Gillespie syndrome Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_17 Spinocerebellar ataxia type 17 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_19_22 Spinocerebellar ataxia type 19/22 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_19_22_brugada_syndrome_9 Spinocerebellar ataxia type 19/22;Brugada syndrome 9 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_2 Spinocerebellar ataxia type 2 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_21 Spinocerebellar ataxia type 21 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_23 Spinocerebellar ataxia type 23 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_25 Spinocerebellar ataxia type 25 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_25_combined_oxidative_phosphorylation_defect_type_13_autosomal_recessive_nonsyndromic_hearing_loss_70 Spinocerebellar ataxia type 25;Combined oxidative phosphorylation defect type 13;Autosomal recessive nonsyndromic hearing loss 70 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_26 Spinocerebellar ataxia type 26 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_28 Spinocerebellar ataxia type 28 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_28_optic_atrophy_12_spastic_ataxia_5 Spinocerebellar ataxia type 28;Optic atrophy 12;Spastic ataxia 5 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_28_spastic_ataxia_5 Spinocerebellar ataxia type 28;Spastic ataxia 5 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_29 Spinocerebellar ataxia type 29 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_29_gillespie_syndrome Spinocerebellar ataxia type 29;Gillespie syndrome Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_29_gillespie_syndrome_spinocerebellar_ataxia_type_15_16 Spinocerebellar ataxia type 29;Gillespie syndrome;Spinocerebellar ataxia type 15/16 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_29_spinocerebellar_ataxia_type_15_16 Spinocerebellar ataxia type 29;Spinocerebellar ataxia type 15/16 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_29_spinocerebellar_ataxia_type_15_16_gillespie_syndrome Spinocerebellar ataxia type 29;Spinocerebellar ataxia type 15/16;Gillespie syndrome Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_31 Spinocerebellar ataxia type 31 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_34 Spinocerebellar ataxia type 34 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_34_congenital_ichthyosis_intellectual_disability_spastic_quadriplegia_syndrome_stargardt_disease Spinocerebellar ataxia type 34;Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome;Stargardt disease Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_34_congenital_ichthyosis_intellectual_disability_spastic_quadriplegia_syndrome_stargardt_disease_3 Spinocerebellar ataxia type 34;Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome;Stargardt disease 3 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_34_stargardt_disease_3_congenital_ichthyosis_intellectual_disability_spastic_quadriplegia_syndrome Spinocerebellar ataxia type 34;Stargardt disease 3;Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_35 Spinocerebellar ataxia type 35 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_36 Spinocerebellar ataxia type 36 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_37 Spinocerebellar ataxia type 37 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_38 Spinocerebellar ataxia type 38 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_4 Spinocerebellar ataxia type 4 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_40 Spinocerebellar ataxia type 40 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_40_hydrocephalus_nonsyndromic_autosomal_recessive_1 Spinocerebellar ataxia type 40;Hydrocephalus, nonsyndromic, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_41 Spinocerebellar ataxia type 41 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_42 Spinocerebellar ataxia type 42 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_42_spinocerebellar_ataxia_42_early_onset_severe_with_neurodevelopmental_deficits Spinocerebellar ataxia type 42;Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_5 Spinocerebellar ataxia type 5 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_5_autosomal_recessive_spinocerebellar_ataxia_14 Spinocerebellar ataxia type 5;Autosomal recessive spinocerebellar ataxia 14 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6 Spinocerebellar ataxia type 6 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6_developmental_and_epileptic_encephalopathy_42 Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 42 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6_developmental_and_epileptic_encephalopathy_42_episodic_ataxia_type_2_migraine_familial_hemiplegic_1 Spinocerebellar ataxia type 6;Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6_episodic_ataxia_type_2 Spinocerebellar ataxia type 6;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6_episodic_ataxia_type_2_migraine_familial_hemiplegic_1 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Migraine, familial hemiplegic, 1 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6_episodic_ataxia_type_2_migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_52 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 52 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1_developmental_and_epileptic_encephalopathy_42_episodic_ataxia_type_2 Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1;Developmental and epileptic encephalopathy, 42;Episodic ataxia type 2 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1_episodic_ataxia_type_2_developmental_and_epileptic_encephalopathy_42 Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6_migraine_familial_hemiplegic_1_episodic_ataxia_type_2_developmental_and_epileptic_encephalopathy_52 Spinocerebellar ataxia type 6;Migraine, familial hemiplegic, 1;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 52 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_8 Spinocerebellar ataxia type 8 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_8_parkinson_disease_late_onset Spinocerebellar ataxia type 8;Parkinson disease, late-onset Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_with_epilepsy Spinocerebellar ataxia with epilepsy Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_x_linked Spinocerebellar ataxia, X-linked Supplemental_disease_name DISEASE_NAME:spinocerebellar_atrophy Spinocerebellar atrophy Supplemental_disease_name DISEASE_NAME:spint2_related_disorder SPINT2-related disorder Supplemental_disease_name DISEASE_NAME:spitz_melanocytoma Spitz Melanocytoma Supplemental_disease_name DISEASE_NAME:spitz_nevus_somatic SPITZ NEVUS, SOMATIC Supplemental_disease_name DISEASE_NAME:splenomegaly Splenomegaly Supplemental_disease_name DISEASE_NAME:splenomegaly_anemia Splenomegaly;Anemia Supplemental_disease_name DISEASE_NAME:splenomegaly_decreased_circulating_immunoglobulin_concentration Splenomegaly;Decreased circulating immunoglobulin concentration Supplemental_disease_name DISEASE_NAME:splenomegaly_delayed_gross_motor_development_hepatic_fibrosis Splenomegaly;Delayed gross motor development;Hepatic fibrosis Supplemental_disease_name DISEASE_NAME:splenomegaly_osteopenia_asthma Splenomegaly;Osteopenia;Asthma Supplemental_disease_name DISEASE_NAME:splenomegaly_primary_myelofibrosis Splenomegaly;Primary myelofibrosis Supplemental_disease_name DISEASE_NAME:splenomegaly_short_stature_agenesis_of_permanent_teeth_deeply_set_eye_microcephaly Splenomegaly;Short stature;Agenesis of permanent teeth;Deeply set eye;Microcephaly Supplemental_disease_name DISEASE_NAME:spliceosomepathy Spliceosomepathy Supplemental_disease_name DISEASE_NAME:split_foot_malformation_mesoaxial_polydactyly_syndrome Split-foot malformation-mesoaxial polydactyly syndrome Supplemental_disease_name DISEASE_NAME:split_foot_malformation_with_mesoaxial_polydactyly Split-foot malformation with mesoaxial polydactyly Supplemental_disease_name DISEASE_NAME:split_hand_foot_malformation_1_with_sensorineural_hearing_loss_split_hand_foot_malformation_1 Split hand-foot malformation 1 with sensorineural hearing loss;Split hand-foot malformation 1 Supplemental_disease_name DISEASE_NAME:spn_related_disorder SPN-related disorder Supplemental_disease_name DISEASE_NAME:spns2_related_disorder SPNS2-related disorder Supplemental_disease_name DISEASE_NAME:spock1_related_disorder SPOCK1-related disorder Supplemental_disease_name DISEASE_NAME:spondylo_megaepiphyseal_metaphyseal_dysplasia Spondylo-megaepiphyseal-metaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:spondylo_ocular_syndrome Spondylo-ocular syndrome Supplemental_disease_name DISEASE_NAME:spondyloarthropathy_susceptibility_to_1 Spondyloarthropathy, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:spondylocarpotarsal_fusion_syndrome_1a Spondylocarpotarsal fusion syndrome 1A Supplemental_disease_name DISEASE_NAME:spondylocarpotarsal_synostosis_syndrome_atelosteogenesis_type_i_boomerang_dysplasia_atelosteogenesis_type_iii_larsen_syndrome Spondylocarpotarsal synostosis syndrome;Atelosteogenesis type I;Boomerang dysplasia;Atelosteogenesis type III;Larsen syndrome Supplemental_disease_name DISEASE_NAME:spondylocarpotarsal_synostosis_syndrome_atelosteogenesis_type_iii_atelosteogenesis_type_i_boomerang_dysplasia_larsen_syndrome Spondylocarpotarsal synostosis syndrome;Atelosteogenesis type III;Atelosteogenesis type I;Boomerang dysplasia;Larsen syndrome Supplemental_disease_name DISEASE_NAME:spondylocarpotarsal_synostosis_syndrome_atelosteogenesis_type_iii_atelosteogenesis_type_i_larsen_syndrome_boomerang_dysplasia Spondylocarpotarsal synostosis syndrome;Atelosteogenesis type III;Atelosteogenesis type I;Larsen syndrome;Boomerang dysplasia Supplemental_disease_name DISEASE_NAME:spondylocarpotarsal_synostosis_syndrome_contractures_pterygia_and_spondylocarpotarsal_fusion_syndrome_1a Spondylocarpotarsal synostosis syndrome;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Supplemental_disease_name DISEASE_NAME:spondylocarpotarsal_synostosis_syndrome_larsen_syndrome_atelosteogenesis_type_i_boomerang_dysplasia_atelosteogenesis_type_iii Spondylocarpotarsal synostosis syndrome;Larsen syndrome;Atelosteogenesis type I;Boomerang dysplasia;Atelosteogenesis type III Supplemental_disease_name DISEASE_NAME:spondylocarpotarsal_synostosis_syndrome_larsen_syndrome_atelosteogenesis_type_iii_atelosteogenesis_type_i_boomerang_dysplasia Spondylocarpotarsal synostosis syndrome;Larsen syndrome;Atelosteogenesis type III;Atelosteogenesis type I;Boomerang dysplasia Supplemental_disease_name DISEASE_NAME:spondylocostal_dysostosis_1_autosomal_recessive Spondylocostal dysostosis 1, autosomal recessive Supplemental_disease_name DISEASE_NAME:spondylocostal_dysostosis_2_autosomal_recessive Spondylocostal dysostosis 2, autosomal recessive Supplemental_disease_name DISEASE_NAME:spondylocostal_dysostosis_2_autosomal_recessive_spondylocostal_dysostosis_1_autosomal_recessive Spondylocostal dysostosis 2, autosomal recessive;Spondylocostal dysostosis 1, autosomal recessive Supplemental_disease_name DISEASE_NAME:spondylocostal_dysostosis_3_autosomal_recessive Spondylocostal dysostosis 3, autosomal recessive Supplemental_disease_name DISEASE_NAME:spondylocostal_dysostosis_4_autosomal_recessive Spondylocostal dysostosis 4, autosomal recessive Supplemental_disease_name DISEASE_NAME:spondylocostal_dysostosis_6_autosomal_recessive Spondylocostal dysostosis 6, autosomal recessive Supplemental_disease_name DISEASE_NAME:spondylocostal_dysostosis_7_autosomal_recessive Spondylocostal dysostosis 7, autosomal recessive Supplemental_disease_name DISEASE_NAME:spondylodysplastic_ehlers_danlos_syndrome Spondylodysplastic Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:spondyloenchondrodysplasia_with_immune_dysregulation Spondyloenchondrodysplasia with immune dysregulation Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_aggrecan_type Spondyloepimetaphyseal dysplasia, aggrecan type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_aggrecan_type_spondyloepiphyseal_dysplasia_kimberley_type_short_stature_and_advanced_bone_age_with_or_without_early_onset_osteoarthritis_and_or_osteochondritis_dissecans Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type;Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_bieganski_type Spondyloepimetaphyseal dysplasia, Bieganski type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_bieganski_type_charcot_marie_tooth_disease_x_linked_recessive_4_deafness_x_linked_5 Spondyloepimetaphyseal dysplasia, Bieganski type;Charcot-Marie-Tooth disease X-linked recessive 4;Deafness, X-linked 5 Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_bieganski_type_severe_x_linked_mitochondrial_encephalomyopathy_deafness_x_linked_5_charcot_marie_tooth_disease_x_linked_recessive_4 Spondyloepimetaphyseal dysplasia, Bieganski type;Severe X-linked mitochondrial encephalomyopathy;Deafness, X-linked 5;Charcot-Marie-Tooth disease X-linked recessive 4 Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_di_rocco_type Spondyloepimetaphyseal dysplasia, di rocco type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_di_rocco_type_hip_dysplasia_beukes_type Spondyloepimetaphyseal dysplasia, di rocco type;Hip dysplasia, Beukes type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_di_rocco_type_hip_dysplasia_beukes_type_developmental_and_epileptic_encephalopathy_106 Spondyloepimetaphyseal dysplasia, di rocco type;Hip dysplasia, Beukes type;Developmental and epileptic encephalopathy 106 Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_guo_campeau_type Spondyloepimetaphyseal dysplasia, Guo-Campeau type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_guo_campeau_type_hoxha_aliu_syndrome Spondyloepimetaphyseal dysplasia, Guo-Campeau type;Hoxha-Aliu syndrome Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_isidor_toutain_type Spondyloepimetaphyseal dysplasia, Isidor-Toutain type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_krakow_type Spondyloepimetaphyseal dysplasia, Krakow type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_maroteaux_type Spondyloepimetaphyseal dysplasia, Maroteaux type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_matrilin_3_type Spondyloepimetaphyseal dysplasia, matrilin-3 type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_matrilin_3_type_osteoarthritis_susceptibility_2_multiple_epiphyseal_dysplasia_type_5 Spondyloepimetaphyseal dysplasia, matrilin-3 type;Osteoarthritis susceptibility 2;Multiple epiphyseal dysplasia type 5 Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_missouri_type_metaphyseal_chondrodysplasia_spahr_type Spondyloepimetaphyseal dysplasia, Missouri type;Metaphyseal chondrodysplasia, Spahr type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_papss2_type Spondyloepimetaphyseal dysplasia, PAPSS2 type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_shohat_type Spondyloepimetaphyseal dysplasia, Shohat type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_short_limb_abnormal_calcification_syndrome_warburg_cinotti_syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome;Warburg-cinotti syndrome Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_strudwick_type_kniest_dysplasia Spondyloepimetaphyseal dysplasia, Strudwick type;Kniest dysplasia Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_with_joint_laxity_ehlers_danlos_syndrome_spondylodysplastic_type_2 Spondyloepimetaphyseal dysplasia with joint laxity;Ehlers-Danlos syndrome, spondylodysplastic type, 2 Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_fractures Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_or_without_fractures_ehlers_danlos_syndrome_spondylodysplastic_type_2 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures;Ehlers-Danlos syndrome, spondylodysplastic type, 2 Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_or_without_fractures_ehlers_danlos_syndrome_spondylodysplastic_type_2_al_gazali_syndrome Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures;Ehlers-Danlos syndrome, spondylodysplastic type, 2;Al-Gazali syndrome Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_with_multiple_dislocations Spondyloepimetaphyseal dysplasia with multiple dislocations Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia Spondyloepiphyseal dysplasia Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_holling_type Spondyloepiphyseal dysplasia, Holling type Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_kimberley_type_osteochondritis_dissecans Spondyloepiphyseal dysplasia, Kimberley type;Osteochondritis dissecans Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_kimberley_type_short_stature_and_advanced_bone_age_with_or_without_early_onset_osteoarthritis_and_or_osteochondritis_dissecans Spondyloepiphyseal dysplasia, Kimberley type;Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_kimberley_type_short_stature_and_advanced_bone_age_with_or_without_early_onset_osteoarthritis_and_or_osteochondritis_dissecans_spondyloepimetaphyseal_dysplasia_aggrecan_type Spondyloepiphyseal dysplasia, Kimberley type;Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans;Spondyloepimetaphyseal dysplasia, aggrecan type Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_kimberley_type_spondyloepimetaphyseal_dysplasia_aggrecan_type_short_stature_and_advanced_bone_age_with_or_without_early_onset_osteoarthritis_and_or_osteochondritis_dissecans Spondyloepiphyseal dysplasia, Kimberley type;Spondyloepimetaphyseal dysplasia, aggrecan type;Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_mir140_type_nishimura Spondyloepiphyseal dysplasia MIR140 type Nishimura Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_namaqualand_type Spondyloepiphyseal dysplasia, Namaqualand type Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_sensorineural_hearing_loss_impaired_intellectual_development_and_leber_congenital_amaurosis Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_sensorineural_hearing_loss_impaired_intellectual_development_and_leber_congenital_amaurosis_leber_congenital_amaurosis_9 Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis;Leber congenital amaurosis 9 Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_short_palm_short_distal_phalanx_of_finger_platyspondyly_short_stature Spondyloepiphyseal dysplasia;Short palm;Short distal phalanx of finger;Platyspondyly;Short stature Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_tarda_x_linked Spondyloepiphyseal dysplasia tarda, X-linked Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations_larsen_like_syndrome_b3gat3_type Spondyloepiphyseal dysplasia with congenital joint dislocations;Larsen-like syndrome, B3GAT3 type Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_with_metatarsal_shortening Spondyloepiphyseal dysplasia with metatarsal shortening Supplemental_disease_name DISEASE_NAME:spondylometaphyseal_dysplasia_cone_rod_dystrophy_syndrome_lipodystrophy_congenital_generalized_type_5 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome;Lipodystrophy, congenital generalized, type 5 Supplemental_disease_name DISEASE_NAME:spondylometaphyseal_dysplasia_pagnamenta_type Spondylometaphyseal dysplasia, pagnamenta type Supplemental_disease_name DISEASE_NAME:spondylometaphyseal_dysplasia_sutcliffe_type_glomerulopathy_with_fibronectin_deposits_2 Spondylometaphyseal dysplasia - Sutcliffe type;Glomerulopathy with fibronectin deposits 2 Supplemental_disease_name DISEASE_NAME:spongiform_encephalopathy_with_neuropsychiatric_features Spongiform encephalopathy with neuropsychiatric features Supplemental_disease_name DISEASE_NAME:spop_related_disorder SPOP-related disorder Supplemental_disease_name DISEASE_NAME:spop_related_neurodevelopmental_condition SPOP-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:sporadic_abdominal_aortic_aneurysm sporadic abdominal aortic aneurysm Supplemental_disease_name DISEASE_NAME:sporadic_aniridia Sporadic aniridia Supplemental_disease_name DISEASE_NAME:sporadic_cancer Sporadic cancer Supplemental_disease_name DISEASE_NAME:sporadic_hemiplegic_migraine Sporadic hemiplegic migraine Supplemental_disease_name DISEASE_NAME:sporadic_inclusion_body_myositis Sporadic inclusion body myositis Supplemental_disease_name DISEASE_NAME:sporadic_nafe sporadic NAFE Supplemental_disease_name DISEASE_NAME:sporadic_porphyria_cutanea_tarda Sporadic porphyria cutanea tarda Supplemental_disease_name DISEASE_NAME:spout1_associated_development_delay_microcephaly_seizures_short_stature SPOUT1 Associated Development delay Microcephaly Seizures Short stature Supplemental_disease_name DISEASE_NAME:spout1_associated_neurodevelopmental_disorder SPOUT1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:spout1_related_disorder SPOUT1-related disorder Supplemental_disease_name DISEASE_NAME:spp2_related_disorder SPP2-related disorder Supplemental_disease_name DISEASE_NAME:sppl2a_related_disorder SPPL2A-related disorder Supplemental_disease_name DISEASE_NAME:spr_related_disorder SPR-related disorder Supplemental_disease_name DISEASE_NAME:spred1_related_disorder SPRED1-related disorder Supplemental_disease_name DISEASE_NAME:sprinting_performance Sprinting performance Supplemental_disease_name DISEASE_NAME:sprtn_related_disorder SPRTN-related disorder Supplemental_disease_name DISEASE_NAME:spry1_related_disorder SPRY1-related disorder Supplemental_disease_name DISEASE_NAME:spry2_related_disorder SPRY2-related disorder Supplemental_disease_name DISEASE_NAME:spry4_related_disorder SPRY4-related disorder Supplemental_disease_name DISEASE_NAME:spta1_related_disorder SPTA1-related disorder Supplemental_disease_name DISEASE_NAME:sptan1_related_disorder SPTAN1-related disorder Supplemental_disease_name DISEASE_NAME:sptb_related_disorder SPTB-related disorder Supplemental_disease_name DISEASE_NAME:sptbn1_related_disorder SPTBN1-related disorder Supplemental_disease_name DISEASE_NAME:sptbn1_related_neurodevelopmental_disease SPTBN1-related neurodevelopmental disease Supplemental_disease_name DISEASE_NAME:sptbn2_related_disorder SPTBN2-related disorder Supplemental_disease_name DISEASE_NAME:sptbn4_related_disorder SPTBN4-related disorder Supplemental_disease_name DISEASE_NAME:sptbn4_related_neurodevelopmental_disorder SPTBN4-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:sptbn5_related_disorder SPTBN5-related disorder Supplemental_disease_name DISEASE_NAME:sptlc1_related_disorder SPTLC1-related disorder Supplemental_disease_name DISEASE_NAME:sptlc2_related_disorder SPTLC2-related disorder Supplemental_disease_name DISEASE_NAME:sqor_related_disorder SQOR-related disorder Supplemental_disease_name DISEASE_NAME:sqstm1_related_disorder SQSTM1-related disorder Supplemental_disease_name DISEASE_NAME:sqstm1_related_multisystem_proteinopathy SQSTM1-related multisystem proteinopathy Supplemental_disease_name DISEASE_NAME:squalene_synthase_deficiency Squalene synthase deficiency Supplemental_disease_name DISEASE_NAME:squamous_cell_carcinoma_burn_scar_related_somatic SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC Supplemental_disease_name DISEASE_NAME:squamous_cell_carcinoma_of_the_skin Squamous cell carcinoma of the skin Supplemental_disease_name DISEASE_NAME:squamous_cell_lung_carcinoma Squamous cell lung carcinoma Supplemental_disease_name DISEASE_NAME:squamous_cell_lung_carcinoma_breast_carcinoma Squamous cell lung carcinoma;Breast carcinoma Supplemental_disease_name DISEASE_NAME:sra1_related_disorder SRA1-related disorder Supplemental_disease_name DISEASE_NAME:src_related_disorder SRC-related disorder Supplemental_disease_name DISEASE_NAME:srcap_related_disorder SRCAP-related disorder Supplemental_disease_name DISEASE_NAME:srd5a2_polymorphism SRD5A2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:srd5a2_related_disorder SRD5A2-related disorder Supplemental_disease_name DISEASE_NAME:srd5a3_congenital_disorder_of_glycosylation SRD5A3-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:srd5a3_congenital_disorder_of_glycosylation_kahrizi_syndrome SRD5A3-congenital disorder of glycosylation;Kahrizi syndrome Supplemental_disease_name DISEASE_NAME:srd5a3_related_disorder SRD5A3-related disorder Supplemental_disease_name DISEASE_NAME:srebf1_related_disorder SREBF1-related disorder Supplemental_disease_name DISEASE_NAME:srebf2_related_disorder SREBF2-related disorder Supplemental_disease_name DISEASE_NAME:srgap1_related_disorder SRGAP1-related disorder Supplemental_disease_name DISEASE_NAME:srgap2_associated_neurodevelopmental_disorder SRGAP2-associated Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:srgap3_related_disorder SRGAP3-related disorder Supplemental_disease_name DISEASE_NAME:srp54_related_disorder SRP54-related disorder Supplemental_disease_name DISEASE_NAME:srp72_related_disorder SRP72-related disorder Supplemental_disease_name DISEASE_NAME:srpk2_related_disorder SRPK2-related disorder Supplemental_disease_name DISEASE_NAME:srpk3_related_disorder SRPK3-related disorder Supplemental_disease_name DISEASE_NAME:srpra_related_disorder SRPRA-related disorder Supplemental_disease_name DISEASE_NAME:srpx2_related_disorder SRPX2-related disorder Supplemental_disease_name DISEASE_NAME:srrm2_related_disorder SRRM2-related disorder Supplemental_disease_name DISEASE_NAME:srrm2_related_neurodevelopmental_disorder SRRM2-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:srrt_related_condition SRRT-related condition Supplemental_disease_name DISEASE_NAME:srsf11_related_disorder SRSF11-related disorder Supplemental_disease_name DISEASE_NAME:srsf2_related_disorder SRSF2-related disorder Supplemental_disease_name DISEASE_NAME:sry_related_disorder SRY-related disorder Supplemental_disease_name DISEASE_NAME:ss18l1_related_disorder SS18L1-related disorder Supplemental_disease_name DISEASE_NAME:ssbp1_related_disorder SSBP1-related disorder Supplemental_disease_name DISEASE_NAME:ssc5d_related_disorder SSC5D-related disorder Supplemental_disease_name DISEASE_NAME:ssh1_related_disorder SSH1-related disorder Supplemental_disease_name DISEASE_NAME:ssr4_congenital_disorder_of_glycosylation SSR4-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:ssr4_related_disorder SSR4-related disorder Supplemental_disease_name DISEASE_NAME:sstr5_related_disorder SSTR5-related disorder Supplemental_disease_name DISEASE_NAME:ssx1_related_disorder SSX1-related disorder Supplemental_disease_name DISEASE_NAME:st14_related_disorder ST14-related disorder Supplemental_disease_name DISEASE_NAME:st3gal3_related_disorder ST3GAL3-related disorder Supplemental_disease_name DISEASE_NAME:st3gal5_related_disorder ST3GAL5-related disorder Supplemental_disease_name DISEASE_NAME:st6galnac1_related_disorder ST6GALNAC1-related disorder Supplemental_disease_name DISEASE_NAME:st7_related_disorder ST7-related disorder Supplemental_disease_name DISEASE_NAME:st8sia2_related_disorder ST8SIA2-related disorder Supplemental_disease_name DISEASE_NAME:stac3_related_disorder STAC3-related disorder Supplemental_disease_name DISEASE_NAME:stag1_related_disorder STAG1-related disorder Supplemental_disease_name DISEASE_NAME:stag2_related_disorder STAG2-related disorder Supplemental_disease_name DISEASE_NAME:stag3_related_disorder STAG3-related disorder Supplemental_disease_name DISEASE_NAME:stage_5_chronic_kidney_disease Stage 5 chronic kidney disease Supplemental_disease_name DISEASE_NAME:stambp_related_disorder STAMBP-related disorder Supplemental_disease_name DISEASE_NAME:stankiewicz_isidor_syndrome Stankiewicz-Isidor syndrome Supplemental_disease_name DISEASE_NAME:stap1_related_disorder STAP1-related disorder Supplemental_disease_name DISEASE_NAME:stapes_ankylosis_with_broad_thumbs_and_toes Stapes ankylosis with broad thumbs and toes Supplemental_disease_name DISEASE_NAME:star_related_disorder STAR-related disorder Supplemental_disease_name DISEASE_NAME:stard7_related_disorder STARD7-related disorder Supplemental_disease_name DISEASE_NAME:stard9_related_disorder STARD9-related disorder Supplemental_disease_name DISEASE_NAME:stard9_related_intellectual_disabilities_with_blindness STARD9-related intellectual disabilities with blindness Supplemental_disease_name DISEASE_NAME:stard9_related_intellectual_disability STARD9-related Intellectual Disability Supplemental_disease_name DISEASE_NAME:stargardt_disease_3_congenital_ichthyosis_intellectual_disability_spastic_quadriplegia_syndrome_spinocerebellar_ataxia_type_34 Stargardt disease 3;Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome;Spinocerebellar ataxia type 34 Supplemental_disease_name DISEASE_NAME:stargardt_disease_4_retinal_macular_dystrophy_type_2_cone_rod_dystrophy_12 Stargardt disease 4;Retinal macular dystrophy type 2;Cone-rod dystrophy 12 Supplemental_disease_name DISEASE_NAME:stargardt_disease_4_retinal_macular_dystrophy_type_2_retinitis_pigmentosa_41_cone_rod_dystrophy_12 Stargardt disease 4;Retinal macular dystrophy type 2;Retinitis pigmentosa 41;Cone-rod dystrophy 12 Supplemental_disease_name DISEASE_NAME:stargardt_disease_4_retinitis_pigmentosa_41_cone_rod_dystrophy_12_retinal_macular_dystrophy_type_2 Stargardt disease 4;Retinitis pigmentosa 41;Cone-rod dystrophy 12;Retinal macular dystrophy type 2 Supplemental_disease_name DISEASE_NAME:stargardt_disease_4_retinitis_pigmentosa_41_retinal_macular_dystrophy_type_2_cone_rod_dystrophy_12 Stargardt disease 4;Retinitis pigmentosa 41;Retinal macular dystrophy type 2;Cone-rod dystrophy 12 Supplemental_disease_name DISEASE_NAME:stargardt_disease_severe_early_childhood_onset_retinal_dystrophy Stargardt disease;Severe early-childhood-onset retinal dystrophy Supplemental_disease_name DISEASE_NAME:stargardt_like_macular_dystrophy Stargardt-like macular dystrophy Supplemental_disease_name DISEASE_NAME:stat1_related_disorder STAT1-related disorder Supplemental_disease_name DISEASE_NAME:stat1_related_immunodeficiency STAT1-Related Immunodeficiency Supplemental_disease_name DISEASE_NAME:stat2_related_disorder STAT2-related disorder Supplemental_disease_name DISEASE_NAME:stat3_gain_of_function_hyper_ige_recurrent_infection_syndrome_1_autosomal_dominant STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:stat3_related_disorder STAT3-related disorder Supplemental_disease_name DISEASE_NAME:stat3_related_early_onset_multisystem_autoimmune_disease STAT3-related early-onset multisystem autoimmune disease Supplemental_disease_name DISEASE_NAME:stat3_related_early_onset_multisystem_autoimmune_disease_hyper_ige_recurrent_infection_syndrome_1_autosomal_dominant STAT3-related early-onset multisystem autoimmune disease;Hyper-IgE recurrent infection syndrome 1, autosomal dominant Supplemental_disease_name DISEASE_NAME:stat4_related_disorder STAT4-related disorder Supplemental_disease_name DISEASE_NAME:stat5b_related_disorder STAT5B-related disorder Supplemental_disease_name DISEASE_NAME:stat5b_related_growth_hormone_insensitivity_syndrome STAT5B-related growth hormone insensitivity syndrome Supplemental_disease_name DISEASE_NAME:statins_attenuated_cholesterol_lowering_by Statins, attenuated cholesterol lowering by Supplemental_disease_name DISEASE_NAME:status_epilepticus_complex_febrile_seizure_seizure Status epilepticus;Complex febrile seizure;Seizure Supplemental_disease_name DISEASE_NAME:steap1_related_disorder STEAP1-related disorder Supplemental_disease_name DISEASE_NAME:steap2_related_disorder STEAP2-related disorder Supplemental_disease_name DISEASE_NAME:steap3_related_disorder STEAP3-related disorder Supplemental_disease_name DISEASE_NAME:steatocystoma_multiplex_pachyonychia_congenita_2 Steatocystoma multiplex;Pachyonychia congenita 2 Supplemental_disease_name DISEASE_NAME:steel_syndrome Steel syndrome Supplemental_disease_name DISEASE_NAME:steinert_myotonic_dystrophy_syndrome Steinert myotonic dystrophy syndrome Supplemental_disease_name DISEASE_NAME:stereotypic_movement_disorder_abnormal_facial_shape Stereotypic movement disorder;Abnormal facial shape Supplemental_disease_name DISEASE_NAME:stereotypical_hand_wringing_areflexia_generalized_hypotonia_global_developmental_delay Stereotypical hand wringing;Areflexia;Generalized hypotonia;Global developmental delay Supplemental_disease_name DISEASE_NAME:sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis_gastric_cancer_microvascular_complications_of_diabetes_susceptibility_to_4 Sterile multifocal osteomyelitis with periostitis and pustulosis;Gastric cancer;Microvascular complications of diabetes, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis_microvascular_complications_of_diabetes_susceptibility_to_4_gastric_cancer Sterile multifocal osteomyelitis with periostitis and pustulosis;Microvascular complications of diabetes, susceptibility to, 4;Gastric cancer Supplemental_disease_name DISEASE_NAME:steroid_resistant_nephrotic_syndrome Steroid-resistant nephrotic syndrome Supplemental_disease_name DISEASE_NAME:steroid_resistant_nephrotic_syndrome_focal_segmental_glomerulosclerosis Steroid-resistant nephrotic syndrome;Focal segmental glomerulosclerosis Supplemental_disease_name DISEASE_NAME:steroid_resistant_nephrotic_syndrome_nephrotic_range_proteinuria Steroid-resistant nephrotic syndrome;Nephrotic range proteinuria Supplemental_disease_name DISEASE_NAME:sterol_carrier_protein_2_deficiency Sterol carrier protein 2 deficiency Supplemental_disease_name DISEASE_NAME:stevens_johnson_syndrome_susceptibility_to Stevens-Johnson syndrome, susceptibility to Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_1 Stickler syndrome type 1 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2 Stickler syndrome type 2 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_fibrochondrogenesis_1_hearing_loss_autosomal_dominant_37_marshall_syndrome Stickler syndrome type 2;Fibrochondrogenesis 1;Hearing loss, autosomal dominant 37;Marshall syndrome Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_fibrochondrogenesis_1_marshall_syndrome Stickler syndrome type 2;Fibrochondrogenesis 1;Marshall syndrome Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_hearing_loss_autosomal_dominant_37_fibrochondrogenesis_1_marshall_syndrome_intervertebral_disc_disorder Stickler syndrome type 2;Hearing loss, autosomal dominant 37;Fibrochondrogenesis 1;Marshall syndrome;Intervertebral disc disorder Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_hearing_loss_autosomal_dominant_37_intervertebral_disc_disorder_marshall_syndrome_fibrochondrogenesis_1 Stickler syndrome type 2;Hearing loss, autosomal dominant 37;Intervertebral disc disorder;Marshall syndrome;Fibrochondrogenesis 1 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_hearing_loss_autosomal_dominant_37_marshall_syndrome Stickler syndrome type 2;Hearing loss, autosomal dominant 37;Marshall syndrome Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_hearing_loss_autosomal_dominant_37_marshall_syndrome_fibrochondrogenesis_1 Stickler syndrome type 2;Hearing loss, autosomal dominant 37;Marshall syndrome;Fibrochondrogenesis 1 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_hearing_loss_autosomal_dominant_37_marshall_syndrome_fibrochondrogenesis_1_intervertebral_disc_disorder Stickler syndrome type 2;Hearing loss, autosomal dominant 37;Marshall syndrome;Fibrochondrogenesis 1;Intervertebral disc disorder Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_marshall_syndrome Stickler syndrome type 2;Marshall syndrome Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_marshall_syndrome_fibrochondrogenesis_1 Stickler syndrome type 2;Marshall syndrome;Fibrochondrogenesis 1 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_marshall_syndrome_fibrochondrogenesis_1_intervertebral_disc_disorder_hearing_loss_autosomal_dominant_37 Stickler syndrome type 2;Marshall syndrome;Fibrochondrogenesis 1;Intervertebral disc disorder;Hearing loss, autosomal dominant 37 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_marshall_syndrome_hearing_loss_autosomal_dominant_37_fibrochondrogenesis Stickler syndrome type 2;Marshall syndrome;Hearing loss, autosomal dominant 37;Fibrochondrogenesis Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_2_marshall_syndrome_intervertebral_disc_disorder_fibrochondrogenesis_1_hearing_loss_autosomal_dominant_37 Stickler syndrome type 2;Marshall syndrome;Intervertebral disc disorder;Fibrochondrogenesis 1;Hearing loss, autosomal dominant 37 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_4 Stickler syndrome, type 4 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_4_epiphyseal_dysplasia_multiple_6 Stickler syndrome, type 4;Epiphyseal dysplasia, multiple, 6 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_5 Stickler syndrome, type 5 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_5_epiphyseal_dysplasia_multiple_2 Stickler syndrome, type 5;Epiphyseal dysplasia, multiple, 2 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_6 Stickler syndrome, type 6 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_6_epiphyseal_dysplasia_multiple_3 Stickler syndrome, type 6;Epiphyseal dysplasia, multiple, 3 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_i_nonsyndromic_ocular Stickler syndrome, type I, nonsyndromic ocular Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_i_nonsyndromic_ocular_stickler_syndrome_type_1 Stickler syndrome, type I, nonsyndromic ocular;Stickler syndrome type 1 Supplemental_disease_name DISEASE_NAME:stiff_skin_arthralgia_palmoplantar_keratoderma Stiff skin;Arthralgia;Palmoplantar keratoderma Supplemental_disease_name DISEASE_NAME:stil_related_disorder STIL-related disorder Supplemental_disease_name DISEASE_NAME:stim1_related_disorder STIM1-related disorder Supplemental_disease_name DISEASE_NAME:sting1_related_disorder STING1-related disorder Supplemental_disease_name DISEASE_NAME:stk11_related_disorder STK11-related disorder Supplemental_disease_name DISEASE_NAME:stk36_related_disorder STK36-related disorder Supplemental_disease_name DISEASE_NAME:stk38l_related_disorder STK38L-related disorder Supplemental_disease_name DISEASE_NAME:stk4_related_disorder STK4-related disorder Supplemental_disease_name DISEASE_NAME:stkld1_related_disorder STKLD1-related disorder Supplemental_disease_name DISEASE_NAME:stn1_related_disorder STN1-related disorder Supplemental_disease_name DISEASE_NAME:ston1_gtf2a1l_related_disorder STON1-GTF2A1L-related disorder Supplemental_disease_name DISEASE_NAME:storage_pool_disease_of_platelets Storage pool disease of platelets Supplemental_disease_name DISEASE_NAME:stormorken_syndrome_combined_immunodeficiency_due_to_stim1_deficiency Stormorken syndrome;Combined immunodeficiency due to STIM1 deficiency Supplemental_disease_name DISEASE_NAME:stormorken_syndrome_combined_immunodeficiency_due_to_stim1_deficiency_myopathy_tubular_aggregate_1 Stormorken syndrome;Combined immunodeficiency due to STIM1 deficiency;Myopathy, tubular aggregate, 1 Supplemental_disease_name DISEASE_NAME:stormorken_syndrome_combined_immunodeficiency_due_to_stim1_deficiency_myopathy_with_tubular_aggregates Stormorken syndrome;Combined immunodeficiency due to STIM1 deficiency;Myopathy with tubular aggregates Supplemental_disease_name DISEASE_NAME:stormorken_syndrome_myopathy_tubular_aggregate_1_combined_immunodeficiency_due_to_stim1_deficiency Stormorken syndrome;Myopathy, tubular aggregate, 1;Combined immunodeficiency due to STIM1 deficiency Supplemental_disease_name DISEASE_NAME:stormorken_syndrome_myopathy_with_tubular_aggregates_combined_immunodeficiency_due_to_stim1_deficiency Stormorken syndrome;Myopathy with tubular aggregates;Combined immunodeficiency due to STIM1 deficiency Supplemental_disease_name DISEASE_NAME:stox1_related_disorder STOX1-related disorder Supplemental_disease_name DISEASE_NAME:stra6_related_disorder STRA6-related disorder Supplemental_disease_name DISEASE_NAME:strabismus_abnormal_facial_shape_short_stature Strabismus;Abnormal facial shape;Short stature Supplemental_disease_name DISEASE_NAME:strabismus_delayed_speech_and_language_development_intellectual_disability Strabismus;Delayed speech and language development;Intellectual disability Supplemental_disease_name DISEASE_NAME:strabismus_susceptibility_to Strabismus, susceptibility to Supplemental_disease_name DISEASE_NAME:strada_related_disorder STRADA-related disorder Supplemental_disease_name DISEASE_NAME:strc_related_disorder STRC-related disorder Supplemental_disease_name DISEASE_NAME:streptomycin_response_toxicity streptomycin response - Toxicity Supplemental_disease_name DISEASE_NAME:striatal_degeneration Striatal degeneration Supplemental_disease_name DISEASE_NAME:striatal_degeneration_autosomal_dominant_2 Striatal degeneration, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:striatal_necrosis_bilateral_with_dystonia Striatal necrosis, bilateral, with dystonia Supplemental_disease_name DISEASE_NAME:striatonigral_degeneration_childhood_onset Striatonigral degeneration, childhood-onset Supplemental_disease_name DISEASE_NAME:striatonigral_degeneration_infantile_mitochondrial Striatonigral degeneration, infantile, mitochondrial Supplemental_disease_name DISEASE_NAME:stroke_disorder Stroke disorder Supplemental_disease_name DISEASE_NAME:stroke_disorder_migraine_without_aura Stroke disorder;Migraine without aura Supplemental_disease_name DISEASE_NAME:stroke_disorder_seizure_inguinal_hernia_hemangioma_nephrocalcinosis Stroke disorder;Seizure;Inguinal hernia;Hemangioma;Nephrocalcinosis Supplemental_disease_name DISEASE_NAME:stromal_corneal_dystrophy Stromal corneal dystrophy Supplemental_disease_name DISEASE_NAME:structural_brain_anomalies_with_impaired_intellectual_development_and_craniosynostosis Structural brain anomalies with impaired intellectual development and craniosynostosis Supplemental_disease_name DISEASE_NAME:structural_congenital_heart_disease_multiple_types_gata4 Structural congenital heart disease, multiple types - GATA4 Supplemental_disease_name DISEASE_NAME:structural_eye_disease Structural eye disease Supplemental_disease_name DISEASE_NAME:structural_heart_defects_and_renal_anomalies_syndrome Structural heart defects and renal anomalies syndrome Supplemental_disease_name DISEASE_NAME:sts_related_disorder STS-related disorder Supplemental_disease_name DISEASE_NAME:stt3a_congenital_disorder_of_glycosylation STT3A-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:stt3a_congenital_disorder_of_glycosylation_congenital_disorder_of_glycosylation_type_iw_autosomal_dominant STT3A-congenital disorder of glycosylation;Congenital disorder of glycosylation, type Iw, autosomal dominant Supplemental_disease_name DISEASE_NAME:stt3a_related_disorder STT3A-related disorder Supplemental_disease_name DISEASE_NAME:stt3b_congenital_disorder_of_glycosylation STT3B-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:stt3b_related_disorder STT3B-related disorder Supplemental_disease_name DISEASE_NAME:stub1_related_disorder STUB1-related disorder Supplemental_disease_name DISEASE_NAME:stuttering_familial_persistent_1 Stuttering, familial persistent, 1 Supplemental_disease_name DISEASE_NAME:stuttering_familial_persistent_1_hereditary_spastic_paraplegia_51 Stuttering, familial persistent, 1;Hereditary spastic paraplegia 51 Supplemental_disease_name DISEASE_NAME:stuttering_familial_persistent_2 Stuttering, familial persistent, 2 Supplemental_disease_name DISEASE_NAME:stuttering_familial_persistent_4 Stuttering, familial persistent, 4 Supplemental_disease_name DISEASE_NAME:stuve_wiedemann_syndrome Stuve-wiedemann syndrome Supplemental_disease_name DISEASE_NAME:stuve_wiedemann_syndrome_2 Stuve-Wiedemann syndrome 2 Supplemental_disease_name DISEASE_NAME:stx11_related_disorder STX11-related disorder Supplemental_disease_name DISEASE_NAME:stx16_related_disorder STX16-related disorder Supplemental_disease_name DISEASE_NAME:stx1a_associated_neurodevelopmental_disorder STX1A-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:stx1a_related_disorder STX1A-related disorder Supplemental_disease_name DISEASE_NAME:stx1b_related_developmental_and_epileptic_encephalopathy STX1B-related developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:stx1b_related_disorder STX1B-related disorder Supplemental_disease_name DISEASE_NAME:stx3_related_disorder STX3-related disorder Supplemental_disease_name DISEASE_NAME:stxbp1_associated_neurodevelopmental_disorder STXBP1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:stxbp1_related_disorder STXBP1-related disorder Supplemental_disease_name DISEASE_NAME:stxbp1_related_neurodevelopmental_disorder STXBP1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:stxbp2_related_disorder STXBP2-related disorder Supplemental_disease_name DISEASE_NAME:stxbp3_related_disorders STXBP3-related disorders Supplemental_disease_name DISEASE_NAME:stxbp5_related_disorder STXBP5-related disorder Supplemental_disease_name DISEASE_NAME:stxbp5l_related_disorder STXBP5L-related disorder Supplemental_disease_name DISEASE_NAME:styxl1_related_disorder STYXL1-related disorder Supplemental_disease_name DISEASE_NAME:stüve_wiedemann_syndrome_1 Stüve-Wiedemann syndrome 1 Supplemental_disease_name DISEASE_NAME:subcortical_laminar_heterotopia_x_linked Subcortical laminar heterotopia, X-linked Supplemental_disease_name DISEASE_NAME:subcutaneous_neurofibroma_cafe_au_lait_spots_multiple_thoracic_scoliosis Subcutaneous neurofibroma;Cafe au lait spots, multiple;Thoracic scoliosis Supplemental_disease_name DISEASE_NAME:subcutaneous_neurofibroma_lisch_nodules Subcutaneous neurofibroma;Lisch nodules Supplemental_disease_name DISEASE_NAME:succinate_semialdehyde_dehydrogenase_deficiency Succinate-semialdehyde dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:succinyl_coa_3_oxoacid_coa_transferase_deficiency Succinyl-CoA:3-oxoacid CoA transferase deficiency Supplemental_disease_name DISEASE_NAME:succinyl_coa_acetoacetate_transferase_deficiency Succinyl-coa acetoacetate transferase deficiency Supplemental_disease_name DISEASE_NAME:succinylcholine_response_toxicity succinylcholine response - Toxicity Supplemental_disease_name DISEASE_NAME:sucla2_related_disorder SUCLA2-related disorder Supplemental_disease_name DISEASE_NAME:suclg1_related_disorder SUCLG1-related disorder Supplemental_disease_name DISEASE_NAME:suclg2_related_disorder SUCLG2-related disorder Supplemental_disease_name DISEASE_NAME:suco_related_disorder SUCO-related disorder Supplemental_disease_name DISEASE_NAME:sucrase_isomaltase_deficiency Sucrase-isomaltase deficiency Supplemental_disease_name DISEASE_NAME:sudden_cardiac_arrest Sudden cardiac arrest Supplemental_disease_name DISEASE_NAME:sudden_cardiac_death Sudden cardiac death Supplemental_disease_name DISEASE_NAME:sudden_cardiac_death_cardiac_arrest Sudden cardiac death;Cardiac arrest Supplemental_disease_name DISEASE_NAME:sudden_cardiac_failure Sudden cardiac failure Supplemental_disease_name DISEASE_NAME:sudden_cardiac_failure_alcohol_induced Sudden cardiac failure, alcohol-induced Supplemental_disease_name DISEASE_NAME:sudden_cardiac_failure_cardiomyopathy_mitochondrial sudden cardiac failure;Cardiomyopathy, mitochondrial Supplemental_disease_name DISEASE_NAME:sudden_cardiac_failure_infantile Sudden cardiac failure, infantile Supplemental_disease_name DISEASE_NAME:sudden_cardiac_failure_infantile_sudden_cardiac_failure_alcohol_induced Sudden cardiac failure, infantile;Sudden cardiac failure, alcohol-induced Supplemental_disease_name DISEASE_NAME:sudden_death Sudden death Supplemental_disease_name DISEASE_NAME:sudden_infant_death_dysgenesis_of_the_testes_syndrome Sudden infant death-dysgenesis of the testes syndrome Supplemental_disease_name DISEASE_NAME:sudden_infant_death_syndrome_brugada_syndrome SUDDEN INFANT DEATH SYNDROME;Brugada syndrome Supplemental_disease_name DISEASE_NAME:sudden_unexplained_death Sudden unexplained death Supplemental_disease_name DISEASE_NAME:sudden_unexplained_death_hypertrophic_cardiomyopathy Sudden unexplained death;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:sudden_unexplained_death_in_childhood Sudden unexplained death in childhood Supplemental_disease_name DISEASE_NAME:sudden_unexplained_death_or_survivors_of_a_cardiac_event Sudden unexplained death or survivors of a cardiac event Supplemental_disease_name DISEASE_NAME:sufu_related_disorder SUFU-related disorder Supplemental_disease_name DISEASE_NAME:sufu_related_ocular_motor_apraxia SUFU-related ocular motor apraxia Supplemental_disease_name DISEASE_NAME:sugct_related_disorder SUGCT-related disorder Supplemental_disease_name DISEASE_NAME:suleiman_el_hattab_syndrome Suleiman-El-Hattab syndrome Supplemental_disease_name DISEASE_NAME:sulf1_related_disorder SULF1-related disorder Supplemental_disease_name DISEASE_NAME:sulfate_transporter_related_osteochondrodysplasia Sulfate transporter-related osteochondrodysplasia Supplemental_disease_name DISEASE_NAME:sulfide_quinone_oxidoreductase_deficiency Sulfide quinone oxidoreductase deficiency Supplemental_disease_name DISEASE_NAME:sulfite_oxidase_deficiency Sulfite oxidase deficiency Supplemental_disease_name DISEASE_NAME:sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_a Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Supplemental_disease_name DISEASE_NAME:sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_b1 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 Supplemental_disease_name DISEASE_NAME:sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_b2 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 Supplemental_disease_name DISEASE_NAME:sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_c Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Supplemental_disease_name DISEASE_NAME:sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_c_hyperekplexia_1 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C;Hyperekplexia 1 Supplemental_disease_name DISEASE_NAME:sulfonylureas_response sulfonylureas response Supplemental_disease_name DISEASE_NAME:sult2b1_related_disorder SULT2B1-related disorder Supplemental_disease_name DISEASE_NAME:sult4a1_related_disorder SULT4A1-related disorder Supplemental_disease_name DISEASE_NAME:sumf1_related_disorder SUMF1-related disorder Supplemental_disease_name DISEASE_NAME:sumf2_related_disorder SUMF2-related disorder Supplemental_disease_name DISEASE_NAME:sun1_related_disorder SUN1-related disorder Supplemental_disease_name DISEASE_NAME:sun5_related_disorder SUN5-related disorder Supplemental_disease_name DISEASE_NAME:suox_related_disorder SUOX-related disorder Supplemental_disease_name DISEASE_NAME:supernumerary_ribs_missing_ribs_scoliosis_hemivertebrae Supernumerary ribs;Missing ribs;Scoliosis;Hemivertebrae Supplemental_disease_name DISEASE_NAME:superoxide_dismutase_elevated_extracellular Superoxide dismutase, elevated extracellular Supplemental_disease_name DISEASE_NAME:supranuclear_palsy_progressive_1 Supranuclear palsy, progressive, 1 Supplemental_disease_name DISEASE_NAME:supranuclear_palsy_progressive_1_frontotemporal_dementia_parkinson_disease_late_onset_progressive_supranuclear_palsy_parkinsonism_syndrome_pick_disease Supranuclear palsy, progressive, 1;Frontotemporal dementia;Parkinson disease, late-onset;Progressive supranuclear palsy-parkinsonism syndrome;Pick disease Supplemental_disease_name DISEASE_NAME:supravalvar_aortic_stenosis Supravalvar aortic stenosis Supplemental_disease_name DISEASE_NAME:supravalvar_aortic_stenosis_cutis_laxa_autosomal_dominant Supravalvar aortic stenosis;Cutis laxa, autosomal dominant Supplemental_disease_name DISEASE_NAME:supravalvar_aortic_stenosis_cutis_laxa_autosomal_dominant_1 Supravalvar aortic stenosis;Cutis laxa, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:supravalvar_aortic_stenosis_cutis_laxa_autosomal_dominant_1_williams_syndrome Supravalvar aortic stenosis;Cutis laxa, autosomal dominant 1;Williams syndrome Supplemental_disease_name DISEASE_NAME:supravalvar_aortic_stenosis_rh_null_regulator_type Supravalvar aortic stenosis;Rh-null, regulator type Supplemental_disease_name DISEASE_NAME:supraventricular_tachycardia Supraventricular tachycardia Supplemental_disease_name DISEASE_NAME:supraventricular_tachycardia_hypertrophic_cardiomyopathy Supraventricular tachycardia;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:supraventricular_tachycardia_hypertrophic_cardiomyopathy_primary_dilated_cardiomyopathy_cardiomyopathy_ventricular_tachycardia Supraventricular tachycardia;Hypertrophic cardiomyopathy;Primary dilated cardiomyopathy;Cardiomyopathy;Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:supt16h_related_disorder SUPT16H-related disorder Supplemental_disease_name DISEASE_NAME:supt5h_related_condition SUPT5H-related condition Supplemental_disease_name DISEASE_NAME:surf1_related_disorder SURF1-related disorder Supplemental_disease_name DISEASE_NAME:surfactant_metabolism_dysfunction_pulmonary_1 Surfactant metabolism dysfunction, pulmonary, 1 Supplemental_disease_name DISEASE_NAME:surfactant_metabolism_dysfunction_pulmonary_2 Surfactant metabolism dysfunction, pulmonary, 2 Supplemental_disease_name DISEASE_NAME:surfactant_metabolism_dysfunction_pulmonary_4 Surfactant metabolism dysfunction, pulmonary, 4 Supplemental_disease_name DISEASE_NAME:surfactant_metabolism_dysfunction_pulmonary_5 Surfactant metabolism dysfunction, pulmonary, 5 Supplemental_disease_name DISEASE_NAME:susceptibility_to_angioedema_induced_by_ace_inhibitors Susceptibility to angioedema induced by ACE inhibitors Supplemental_disease_name DISEASE_NAME:susceptibility_to_coronavirus_disease_covid_19_severity_and_mortality_due_to_low_plasma_levels_of_muc5b Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B Supplemental_disease_name DISEASE_NAME:susceptibility_to_hangover Susceptibility to hangover Supplemental_disease_name DISEASE_NAME:susceptibility_to_hiv_infection Susceptibility to HIV infection Supplemental_disease_name DISEASE_NAME:susceptibility_to_hiv_infection_graft_versus_host_disease_susceptibility_to_rheumatoid_arthritis Susceptibility to HIV infection;Graft-versus-host disease, susceptibility to;Rheumatoid arthritis Supplemental_disease_name DISEASE_NAME:susceptibility_to_hiv_infection_ige_responsiveness_atopic Susceptibility to HIV infection;IgE responsiveness, atopic Supplemental_disease_name DISEASE_NAME:susceptibility_to_hiv_infection_immunodeficiency_83_susceptibility_to_viral_infections Susceptibility to HIV infection;Immunodeficiency 83, susceptibility to viral infections Supplemental_disease_name DISEASE_NAME:susceptibility_to_leprosy_and_multibacillary_leprosy Susceptibility to leprosy and multibacillary leprosy Supplemental_disease_name DISEASE_NAME:susceptibility_to_mononeuropathy_of_the_median_nerve_mild Susceptibility to mononeuropathy of the median nerve, mild Supplemental_disease_name DISEASE_NAME:susceptibility_to_mononeuropathy_of_the_median_nerve_mild_charcot_marie_tooth_disease_type_4c Susceptibility to mononeuropathy of the median nerve, mild;Charcot-Marie-Tooth disease type 4C Supplemental_disease_name DISEASE_NAME:susceptibility_to_nonsyndromic_otitis_media Susceptibility to nonsyndromic otitis media Supplemental_disease_name DISEASE_NAME:susceptibility_to_respiratory_infections_associated_with_cd8alpha_chain_mutation Susceptibility to respiratory infections associated with CD8alpha chain mutation Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_coronavirus_disease_covid_19 Susceptibility to severe coronavirus disease (COVID-19) Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_coronavirus_disease_covid_19_due_to_an_impaired_coagulation_process Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_coronavirus_disease_covid_19_due_to_high_levels_of_fibrinogen_and_c_reactive_protein Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_coronavirus_disease_covid_19_due_to_high_plasma_levels_of_tnf_tnfr_and_or_tnfr2 Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR2 Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_coronavirus_disease_covid_19_due_to_high_plasma_levels_of_tnf_tnfr_and_or_tnfr3 Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR3 Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_coronavirus_disease_covid_19_due_to_high_plasma_levels_of_tnf_tnfr_and_or_tnfr4 Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR4 Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_coronavirus_disease_covid_19_due_to_high_plasma_levels_of_tnf_tnfr_and_or_tnfr5 Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR5 Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_coronavirus_disease_covid_19_due_to_high_plasma_levels_of_tnf_tnfr_and_or_tnfr6 Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR6 Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_coronavirus_disease_covid_19_due_to_high_plasma_levels_of_tnf_tnfr_and_or_tnfr7 Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR7 Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_covid_19 Susceptibility to severe COVID-19 Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_cutaneous_adverse_reaction Susceptibility to severe cutaneous adverse reaction Supplemental_disease_name DISEASE_NAME:susceptibility_to_severe_depressive_disorder Susceptibility to severe depressive disorder Supplemental_disease_name DISEASE_NAME:suv39h2_related_disorder SUV39H2-related disorder Supplemental_disease_name DISEASE_NAME:suxamethonium_response_slow_metabolism Suxamethonium response - slow metabolism Supplemental_disease_name DISEASE_NAME:suz12_related_disorder SUZ12-related disorder Supplemental_disease_name DISEASE_NAME:sv2a_related_disorder SV2A-related disorder Supplemental_disease_name DISEASE_NAME:sv2b_related_disorder SV2B-related disorder Supplemental_disease_name DISEASE_NAME:sv2c_related_disorder SV2C-related disorder Supplemental_disease_name DISEASE_NAME:svbp_related_disorder SVBP-related disorder Supplemental_disease_name DISEASE_NAME:svil_related_disorder SVIL-related disorder Supplemental_disease_name DISEASE_NAME:swann_blood_group_antigen SWANN BLOOD GROUP ANTIGEN Supplemental_disease_name DISEASE_NAME:sweat_chloride_elevation_without_cystic_fibrosis Sweat chloride elevation without cystic fibrosis Supplemental_disease_name DISEASE_NAME:sweeney_cox_syndrome_robinow_sorauf_syndrome_saethre_chotzen_syndrome_twist1_related_craniosynostosis Sweeney-Cox syndrome;Robinow-Sorauf syndrome;Saethre-Chotzen syndrome;TWIST1-related craniosynostosis Supplemental_disease_name DISEASE_NAME:syce1_related_disorder SYCE1-related disorder Supplemental_disease_name DISEASE_NAME:sycp2_related_disorder SYCP2-related disorder Supplemental_disease_name DISEASE_NAME:syk_related_disorder SYK-related disorder Supplemental_disease_name DISEASE_NAME:symmetric_circumferential_skin_creases Symmetric circumferential skin creases Supplemental_disease_name DISEASE_NAME:symmetrical_dyschromatosis_of_extremities Symmetrical dyschromatosis of extremities Supplemental_disease_name DISEASE_NAME:symmetrical_dyschromatosis_of_extremities_aicardi_goutieres_syndrome_6 Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6 Supplemental_disease_name DISEASE_NAME:symphalangism_brachydactyly_syndrome Symphalangism-brachydactyly syndrome Supplemental_disease_name DISEASE_NAME:symphalangism_proximal_1b Symphalangism, proximal, 1B Supplemental_disease_name DISEASE_NAME:symptomatic_deficiency_in_lactate_transport Symptomatic deficiency in lactate transport Supplemental_disease_name DISEASE_NAME:syn1_related_disorder SYN1-related disorder Supplemental_disease_name DISEASE_NAME:syn1_related_neurodevelopmental_disorder SYN1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:syn2_related_disorder SYN2-related disorder Supplemental_disease_name DISEASE_NAME:syn3_related_disorder SYN3-related disorder Supplemental_disease_name DISEASE_NAME:synaptic_congenital_myasthenic_syndromes Synaptic congenital myasthenic syndromes Supplemental_disease_name DISEASE_NAME:sync_related_disorder SYNC-related disorder Supplemental_disease_name DISEASE_NAME:syncope Syncope Supplemental_disease_name DISEASE_NAME:syncope_hypertrophic_cardiomyopathy Syncope;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:syncope_ventricular_fibrillation Syncope;Ventricular fibrillation Supplemental_disease_name DISEASE_NAME:syncrip_associated_neurodevelopmental_disorder SYNCRIP-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:syncrip_related_disorder SYNCRIP-related disorder Supplemental_disease_name DISEASE_NAME:syncrip_related_intellectual_disability SYNCRIP-related Intellectual Disability Supplemental_disease_name DISEASE_NAME:syncrip_related_neurodevelopmental_disorder SYNCRIP-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:syndactyly_type_5_brachydactyly_type_e1_synpolydactyly_type_1_brachydactyly_type_d Syndactyly type 5;Brachydactyly type E1;Synpolydactyly type 1;Brachydactyly type D Supplemental_disease_name DISEASE_NAME:syndactyly_type_5_synpolydactyly_type_1_brachydactyly_type_e1_brachydactyly_syndactyly_syndrome_brachydactyly_type_d Syndactyly type 5;Synpolydactyly type 1;Brachydactyly type E1;Brachydactyly-syndactyly syndrome;Brachydactyly type D Supplemental_disease_name DISEASE_NAME:syndrome_of_entercolitis_and_autoinflmmation_caused_by_mutation_of_nlrc4_scan4 Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) Supplemental_disease_name DISEASE_NAME:syndrome_with_microcephaly_as_major_feature Syndrome with microcephaly as major feature Supplemental_disease_name DISEASE_NAME:syndrome_with_premature_aging syndrome with premature-aging Supplemental_disease_name DISEASE_NAME:syndromic_anorectal_malformation Syndromic anorectal malformation Supplemental_disease_name DISEASE_NAME:syndromic_complex_neurodevelopmental_disorder Syndromic complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:syndromic_congenital_hemolytic_and_dyserythropoietic_anemia Syndromic congenital hemolytic and dyserythropoietic anemia Supplemental_disease_name DISEASE_NAME:syndromic_craniosynostosis Syndromic craniosynostosis Supplemental_disease_name DISEASE_NAME:syndromic_disease Syndromic disease Supplemental_disease_name DISEASE_NAME:syndromic_global_developmental_delay Syndromic global developmental delay Supplemental_disease_name DISEASE_NAME:syndromic_hydrocephalus_due_to_diffuse_villous_hyperplasia_of_choroid_plexus Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus Supplemental_disease_name DISEASE_NAME:syndromic_infantile_encephalopathy Syndromic Infantile Encephalopathy Supplemental_disease_name DISEASE_NAME:syndromic_inherited_retinal_disease Syndromic inherited retinal disease Supplemental_disease_name DISEASE_NAME:syndromic_microphthalmia_type_5_pituitary_hormone_deficiency_combined_6 Syndromic microphthalmia type 5;Pituitary hormone deficiency, combined, 6 Supplemental_disease_name DISEASE_NAME:syndromic_monogenic_diabetes Syndromic Monogenic Diabetes Supplemental_disease_name DISEASE_NAME:syndromic_multisystem_autoimmune_disease_due_to_itch_deficiency Syndromic multisystem autoimmune disease due to ITCH deficiency Supplemental_disease_name DISEASE_NAME:syndromic_neurodevelopmental_disorder Syndromic neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:syndromic_retinitis_pigmentosa Syndromic retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_hedera_type_congenital_disorder_of_glycosylation_type_iir_x_linked_parkinsonism_spasticity_syndrome Syndromic X-linked intellectual disability Hedera type;Congenital disorder of glycosylation, type IIr;X-linked parkinsonism-spasticity syndrome Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_hedera_type_x_linked_parkinsonism_spasticity_syndrome_congenital_disorder_of_glycosylation_type_iir Syndromic X-linked intellectual disability Hedera type;X-linked parkinsonism-spasticity syndrome;Congenital disorder of glycosylation, type IIr Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome Syndromic X-linked intellectual disability Lubs type;Rett syndrome Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_autism_susceptibility_to_x_linked_3_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly Syndromic X-linked intellectual disability Lubs type;Rett syndrome;Autism, susceptibility to, X-linked 3;X-linked intellectual disability-psychosis-macroorchidism syndrome;Severe neonatal-onset encephalopathy with microcephaly Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Syndromic X-linked intellectual disability Lubs type;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_autism_susceptibility_to_x_linked_3 Syndromic X-linked intellectual disability Lubs type;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;X-linked intellectual disability-psychosis-macroorchidism syndrome;Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_severe_neonatal_onset_encephalopathy_with_microcephaly_rett_syndrome_autism_susceptibility_to_x_linked_3_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Syndromic X-linked intellectual disability Lubs type;Severe neonatal-onset encephalopathy with microcephaly;Rett syndrome;Autism, susceptibility to, X-linked 3;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_severe_neonatal_onset_encephalopathy_with_microcephaly_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_autism_susceptibility_to_x_linked_3_rett_syndrome Syndromic X-linked intellectual disability Lubs type;Severe neonatal-onset encephalopathy with microcephaly;X-linked intellectual disability-psychosis-macroorchidism syndrome;Autism, susceptibility to, X-linked 3;Rett syndrome Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_severe_neonatal_onset_encephalopathy_with_microcephaly_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_rett_syndrome_autism_susceptibility_to_x_linked_3 Syndromic X-linked intellectual disability Lubs type;Severe neonatal-onset encephalopathy with microcephaly;X-linked intellectual disability-psychosis-macroorchidism syndrome;Rett syndrome;Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_rett_syndrome_autism_susceptibility_to_x_linked_3_severe_neonatal_onset_encephalopathy_with_microcephaly Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome;Rett syndrome;Autism, susceptibility to, X-linked 3;Severe neonatal-onset encephalopathy with microcephaly Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_lubs_type_x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly_rett_syndrome_autism_susceptibility_to_x_linked_3 Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome;Severe neonatal-onset encephalopathy with microcephaly;Rett syndrome;Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_najm_type_anemia_nonspherocytic_hemolytic_due_to_g6pd_deficiency_fg_syndrome_4 Syndromic X-linked intellectual disability Najm type;Anemia, nonspherocytic hemolytic, due to G6PD deficiency;FG syndrome 4 Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_najm_type_fg_syndrome_4 Syndromic X-linked intellectual disability Najm type;FG syndrome 4 Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_najm_type_fg_syndrome_4_anemia_nonspherocytic_hemolytic_due_to_g6pd_deficiency Syndromic X-linked intellectual disability Najm type;FG syndrome 4;Anemia, nonspherocytic hemolytic, due to G6PD deficiency Supplemental_disease_name DISEASE_NAME:syndromic_x_linked_intellectual_disability_najm_type_intellectual_disability_x_linked_102 Syndromic X-linked intellectual disability Najm type;Intellectual disability, X-linked 102 Supplemental_disease_name DISEASE_NAME:syne1_related_disorder SYNE1-related disorder Supplemental_disease_name DISEASE_NAME:syne2_related_disorder SYNE2-related disorder Supplemental_disease_name DISEASE_NAME:syne4_related_disorder SYNE4-related disorder Supplemental_disease_name DISEASE_NAME:syne4_related_hearing_loss SYNE4-related hearing loss Supplemental_disease_name DISEASE_NAME:syngap1_related_complex_neurodevelopmental_disorder SYNGAP1-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:syngap1_related_disorder SYNGAP1-related disorder Supplemental_disease_name DISEASE_NAME:syngap1_related_encephalopathy SYNGAP1-related encephalopathy Supplemental_disease_name DISEASE_NAME:synj1_related_disorder SYNJ1-related disorder Supplemental_disease_name DISEASE_NAME:synm_related_disorder SYNM-related disorder Supplemental_disease_name DISEASE_NAME:synophrys_epicanthus_high_narrow_palate_delayed_speech_and_language_development Synophrys;Epicanthus;High, narrow palate;Delayed speech and language development Supplemental_disease_name DISEASE_NAME:synovial_plica_syndrome Synovial plica syndrome Supplemental_disease_name DISEASE_NAME:synpo_related_disorder SYNPO-related disorder Supplemental_disease_name DISEASE_NAME:synpolydactyly_type_1 Synpolydactyly type 1 Supplemental_disease_name DISEASE_NAME:synpolydactyly_type_2 Synpolydactyly type 2 Supplemental_disease_name DISEASE_NAME:synrg_related_disorder SYNRG-related disorder Supplemental_disease_name DISEASE_NAME:syp_related_disorder SYP-related disorder Supplemental_disease_name DISEASE_NAME:systemic_autoinflammation Systemic autoinflammation Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_17 Systemic lupus erythematosus 17 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_18 Systemic lupus erythematosus 18 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_aicardi_goutieres_syndrome_1_retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations Systemic lupus erythematosus;Aicardi-Goutieres syndrome 1;Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_association_with_susceptibility_to_10 SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_autoimmune_lymphoproliferative_syndrome_due_to_ctla4_haploinsufficiency_celiac_disease_susceptibility_to_3_hashimoto_thyroiditis_type_1_diabetes_mellitus_12 Systemic lupus erythematosus;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency;Celiac disease, susceptibility to, 3;Hashimoto thyroiditis;Type 1 diabetes mellitus 12 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_cystic_fibrosis_malaria_susceptibility_to Systemic lupus erythematosus;Cystic fibrosis;Malaria, susceptibility to Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_malaria_susceptibility_to_cystic_fibrosis Systemic lupus erythematosus;Malaria, susceptibility to;Cystic fibrosis Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_resistance_to_1 Systemic lupus erythematosus, resistance to, 1 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_susceptibility_to Systemic lupus erythematosus, susceptibility to Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_susceptibility_to_1 Systemic lupus erythematosus, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_susceptibility_to_10 Systemic lupus erythematosus, susceptibility to, 10 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_susceptibility_to_11 Systemic lupus erythematosus, susceptibility to, 11 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_susceptibility_to_9 Systemic lupus erythematosus, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_susceptibility_to_9_immunodeficiency_common_variable_2_immunodeficiency_common_variable_7 Systemic lupus erythematosus, susceptibility to, 9;Immunodeficiency, common variable, 2;Immunodeficiency, common variable, 7 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_susceptibility_to_9_immunodeficiency_common_variable_7 Systemic lupus erythematosus, susceptibility to, 9;Immunodeficiency, common variable, 7 Supplemental_disease_name DISEASE_NAME:systemic_lupus_erythematosus_telangiectasia_hereditary_hemorrhagic_type_1 Systemic lupus erythematosus;Telangiectasia, hereditary hemorrhagic, type 1 Supplemental_disease_name DISEASE_NAME:systemic_mast_cell_disease Systemic mast cell disease Supplemental_disease_name DISEASE_NAME:systemic_primary_carnitine_deficiency Systemic primary carnitine deficiency Supplemental_disease_name DISEASE_NAME:systolic_heart_failure_hypertrophic_cardiomyopathy Systolic heart failure;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:syt14_related_disorder SYT14-related disorder Supplemental_disease_name DISEASE_NAME:syt1_associated_neurodevelopmental_disorder SYT1-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:syt1_related_disorder SYT1-related disorder Supplemental_disease_name DISEASE_NAME:syt2_related_disorder SYT2-related disorder Supplemental_disease_name DISEASE_NAME:syt2_related_myasthenia SYT2-related myasthenia Supplemental_disease_name DISEASE_NAME:sytl5_related_disorder SYTL5-related disorder Supplemental_disease_name DISEASE_NAME:szt2_related_disorder SZT2-related disorder Supplemental_disease_name DISEASE_NAME:t_b_severe_combined_immunodeficiency_due_to_il_7ralpha_deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Supplemental_disease_name DISEASE_NAME:t_b_severe_combined_immunodeficiency_due_to_jak3_deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency Supplemental_disease_name DISEASE_NAME:t_cell_chronic_lymphocytic_leukemia T-Cell Chronic Lymphocytic Leukemia Supplemental_disease_name DISEASE_NAME:t_cell_immunodeficiency_congenital_alopecia_and_nail_dystrophy_t_cell_lymphopenia_infantile_with_or_without_nail_dystrophy_autosomal_dominant T-cell immunodeficiency, congenital alopecia, and nail dystrophy;T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant Supplemental_disease_name DISEASE_NAME:t_cell_immunodeficiency_with_epidermodysplasia_verruciformis T-cell immunodeficiency with epidermodysplasia verruciformis Supplemental_disease_name DISEASE_NAME:t_cell_lymphoma T-cell lymphoma Supplemental_disease_name DISEASE_NAME:t_cell_lymphopenia T-cell lymphopenia Supplemental_disease_name DISEASE_NAME:t_cell_lymphopenia_infantile_with_or_without_nail_dystrophy_autosomal_dominant T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant Supplemental_disease_name DISEASE_NAME:t_cell_lymphopenia_infantile_with_or_without_nail_dystrophy_autosomal_dominant_t_cell_immunodeficiency_congenital_alopecia_and_nail_dystrophy T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant;T-cell immunodeficiency, congenital alopecia, and nail dystrophy Supplemental_disease_name DISEASE_NAME:t_cell_lymphopenia_infantile_without_nail_dystrophy_autosomal_dominant T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT Supplemental_disease_name DISEASE_NAME:t_lgl_leukemia T-LGL Leukemia Supplemental_disease_name DISEASE_NAME:t_prolymphocytic_leukemia T-prolymphocytic leukemia Supplemental_disease_name DISEASE_NAME:t_substance_anomaly T-substance anomaly Supplemental_disease_name DISEASE_NAME:tab2_related_disorder TAB2-related disorder Supplemental_disease_name DISEASE_NAME:tab2_related_syndrome TAB2-related syndrome Supplemental_disease_name DISEASE_NAME:tac3_related_disorder TAC3-related disorder Supplemental_disease_name DISEASE_NAME:taco1_related_disorder TACO1-related disorder Supplemental_disease_name DISEASE_NAME:tacr1_related_disorder TACR1-related disorder Supplemental_disease_name DISEASE_NAME:tacr3_related_disorder TACR3-related disorder Supplemental_disease_name DISEASE_NAME:tacrolimus_response Tacrolimus response Supplemental_disease_name DISEASE_NAME:tacrolimus_response_metabolism_pk tacrolimus response - Metabolism/PK Supplemental_disease_name DISEASE_NAME:tacstd2_related_disorder TACSTD2-related disorder Supplemental_disease_name DISEASE_NAME:taf13_related_disorder TAF13-related disorder Supplemental_disease_name DISEASE_NAME:taf15_related_disorder TAF15-related disorder Supplemental_disease_name DISEASE_NAME:taf1_related_disorder TAF1-related disorder Supplemental_disease_name DISEASE_NAME:taf1_related_syndromic_intellectual_disability TAF1-related syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:taf1_related_x_linked_syndromic_intellectual_disability TAF1-related X-linked syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:taf1c_associated_neurodevelopmental_disorder TAF1C-Associated Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:taf2_related_disorder TAF2-related disorder Supplemental_disease_name DISEASE_NAME:taf4b_related_disorder TAF4B-related disorder Supplemental_disease_name DISEASE_NAME:taf6_related_disorder TAF6-related disorder Supplemental_disease_name DISEASE_NAME:taf8_related_disorder TAF8-related disorder Supplemental_disease_name DISEASE_NAME:tafazzin_related_disorder TAFAZZIN-related disorder Supplemental_disease_name DISEASE_NAME:takenouchi_kosaki_syndrome Takenouchi-Kosaki syndrome Supplemental_disease_name DISEASE_NAME:tal1_related_disorder TAL1-related disorder Supplemental_disease_name DISEASE_NAME:taldo1_related_disorder TALDO1-related disorder Supplemental_disease_name DISEASE_NAME:tall_stature Tall stature Supplemental_disease_name DISEASE_NAME:tall_stature_intellectual_disability_renal_anomalies_syndrome Tall stature-intellectual disability-renal anomalies syndrome Supplemental_disease_name DISEASE_NAME:tall_stature_joint_laxity_allergy Tall stature;Joint laxity;Allergy Supplemental_disease_name DISEASE_NAME:tall_stature_scoliosis_macrodactyly_of_the_great_toes_syndrome_acromesomelic_dysplasia_1_maroteaux_type Tall stature-scoliosis-macrodactyly of the great toes syndrome;Acromesomelic dysplasia 1, Maroteaux type Supplemental_disease_name DISEASE_NAME:tall_stature_scoliosis_macrodactyly_of_the_great_toes_syndrome_acromesomelic_dysplasia_1_maroteaux_type_short_stature_with_nonspecific_skeletal_abnormalities Tall stature-scoliosis-macrodactyly of the great toes syndrome;Acromesomelic dysplasia 1, Maroteaux type;Short stature with nonspecific skeletal abnormalities Supplemental_disease_name DISEASE_NAME:tall_stature_scoliosis_macrodactyly_of_the_great_toes_syndrome_short_stature_with_nonspecific_skeletal_abnormalities Tall stature-scoliosis-macrodactyly of the great toes syndrome;Short stature with nonspecific skeletal abnormalities Supplemental_disease_name DISEASE_NAME:tall_stature_specific_learning_disability_coarctation_of_aorta Tall stature;Specific learning disability;Coarctation of aorta Supplemental_disease_name DISEASE_NAME:tamm41_related_condition TAMM41-related condition Supplemental_disease_name DISEASE_NAME:tamoxifen_response Tamoxifen response Supplemental_disease_name DISEASE_NAME:tan_almurshedi_syndrome Tan-Almurshedi syndrome Supplemental_disease_name DISEASE_NAME:tanc2_related_disorder TANC2-related disorder Supplemental_disease_name DISEASE_NAME:tanc2_related_neurodevelopmental_disorders TANC2-related neurodevelopmental disorders Supplemental_disease_name DISEASE_NAME:tangier_disease_hypoalphalipoproteinemia_primary_1 Tangier disease;Hypoalphalipoproteinemia, primary, 1 Supplemental_disease_name DISEASE_NAME:tangier_disease_variant Tangier disease, variant Supplemental_disease_name DISEASE_NAME:tango2_related_disorder TANGO2-related disorder Supplemental_disease_name DISEASE_NAME:taok1_related_disorder TAOK1-related disorder Supplemental_disease_name DISEASE_NAME:taok1_related_neurodevelopmental_disorder TAOK1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:taok2_associated_neurodevelopmental_disorder TAOK2-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:taok2_related_disorder TAOK2-related disorder Supplemental_disease_name DISEASE_NAME:tap1_deficiency_somatic TAP1 deficiency, somatic Supplemental_disease_name DISEASE_NAME:tap1_related_disorder TAP1-related disorder Supplemental_disease_name DISEASE_NAME:tap2_polymorphism TAP2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:tap2_related_disorder TAP2-related disorder Supplemental_disease_name DISEASE_NAME:tapbp_related_disorder TAPBP-related disorder Supplemental_disease_name DISEASE_NAME:tapt1_related_disorder TAPT1-related disorder Supplemental_disease_name DISEASE_NAME:taq1a_polymorphism Taq1A POLYMORPHISM Supplemental_disease_name DISEASE_NAME:tardbp_related_disorder TARDBP-related disorder Supplemental_disease_name DISEASE_NAME:tars1_related_disorder TARS1-related disorder Supplemental_disease_name DISEASE_NAME:tars2_related_disorder TARS2-related disorder Supplemental_disease_name DISEASE_NAME:tarsal_carpal_coalition_syndrome_symphalangism_brachydactyly_syndrome_brachydactyly_type_b2_stapes_ankylosis_with_broad_thumbs_and_toes_proximal_symphalangism_1a Tarsal-carpal coalition syndrome;Symphalangism-brachydactyly syndrome;Brachydactyly type B2;Stapes ankylosis with broad thumbs and toes;Proximal symphalangism 1A Supplemental_disease_name DISEASE_NAME:tas2r16_related_disorder TAS2R16-related disorder Supplemental_disease_name DISEASE_NAME:task_specific_movement_disorders task-specific movement disorders Supplemental_disease_name DISEASE_NAME:tasp1_related_disorder TASP1-related disorder Supplemental_disease_name DISEASE_NAME:tat_related_disorder TAT-related disorder Supplemental_disease_name DISEASE_NAME:tatdn2_related_disorder TATDN2-related disorder Supplemental_disease_name DISEASE_NAME:tatton_brown_rahman_overgrowth_syndrome_acute_myeloid_leukemia_heyn_sproul_jackson_syndrome Tatton-Brown-Rahman overgrowth syndrome;Acute myeloid leukemia;Heyn-Sproul-Jackson syndrome Supplemental_disease_name DISEASE_NAME:tatton_brown_rahman_overgrowth_syndrome_autism_spectrum_disorder Tatton-Brown-Rahman overgrowth syndrome;Autism spectrum disorder Supplemental_disease_name DISEASE_NAME:tatton_brown_rahman_overgrowth_syndrome_heyn_sproul_jackson_syndrome_acute_myeloid_leukemia Tatton-Brown-Rahman overgrowth syndrome;Heyn-Sproul-Jackson syndrome;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:tatton_brown_rahman_overgrowth_syndrome_shashi_pena_syndrome Tatton-Brown-Rahman overgrowth syndrome;Shashi-Pena syndrome Supplemental_disease_name DISEASE_NAME:tauopathies Tauopathies Supplemental_disease_name DISEASE_NAME:taurodontism_microdontia_and_dens_invaginatus Taurodontism, microdontia, and dens invaginatus Supplemental_disease_name DISEASE_NAME:tax1bp3_related_arrhythmogenic_right_ventricular_cardiomyopathy TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:tay_sachs_disease_b1_variant Tay-Sachs disease, B1 variant Supplemental_disease_name DISEASE_NAME:tay_sachs_disease_juvenile TAY-SACHS DISEASE, JUVENILE Supplemental_disease_name DISEASE_NAME:tay_sachs_disease_tay_sachs_disease_variant_ab Tay-Sachs disease;Tay-Sachs disease, variant AB Supplemental_disease_name DISEASE_NAME:tay_sachs_disease_variant_ab_tay_sachs_disease Tay-Sachs disease, variant AB;Tay-Sachs disease Supplemental_disease_name DISEASE_NAME:tayoun_maawali_syndrome Tayoun-Maawali syndrome Supplemental_disease_name DISEASE_NAME:tbc1d1_related_disorder TBC1D1-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d20_related_disorder TBC1D20-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d23_related_disorder TBC1D23-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d24_related_disorder TBC1D24-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d2b_related_disorder TBC1D2B-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d31_related_disorder TBC1D31-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d32_related_disorder TBC1D32-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d4_related_disorder TBC1D4-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d5_related_disorder TBC1D5-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d7_related_disorder TBC1D7-related disorder Supplemental_disease_name DISEASE_NAME:tbc1d8b_related_disorder TBC1D8B-related disorder Supplemental_disease_name DISEASE_NAME:tbcd_related_disorder TBCD-related disorder Supplemental_disease_name DISEASE_NAME:tbce_related_disorder TBCE-related disorder Supplemental_disease_name DISEASE_NAME:tbcel_related_disorder TBCEL-related disorder Supplemental_disease_name DISEASE_NAME:tbck_related_disorder TBCK-related disorder Supplemental_disease_name DISEASE_NAME:tbk1_related_disorder TBK1-related disorder Supplemental_disease_name DISEASE_NAME:tbl1x_related_disorder TBL1X-related disorder Supplemental_disease_name DISEASE_NAME:tbl1xr1_related_disorder TBL1XR1-related disorder Supplemental_disease_name DISEASE_NAME:tbl1xr1_related_neurodevelopmental_disorder TBL1XR1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tbl1xr1_related_neurodevelopmental_disorders_including_pierpont_syndrome TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome Supplemental_disease_name DISEASE_NAME:tbl1y_related_disorder TBL1Y-related disorder Supplemental_disease_name DISEASE_NAME:tbp_related_disorder TBP-related disorder Supplemental_disease_name DISEASE_NAME:tbr1_related_disorder TBR1-related disorder Supplemental_disease_name DISEASE_NAME:tbr1_related_neurodevelopmental_disorder TBR1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tbx10_related_disorder TBX10-related disorder Supplemental_disease_name DISEASE_NAME:tbx15_related_disorder TBX15-related disorder Supplemental_disease_name DISEASE_NAME:tbx18_related_disorder TBX18-related disorder Supplemental_disease_name DISEASE_NAME:tbx19_related_disorder TBX19-related disorder Supplemental_disease_name DISEASE_NAME:tbx1_related_disorder TBX1-related disorder Supplemental_disease_name DISEASE_NAME:tbx20_related_disorder TBX20-related disorder Supplemental_disease_name DISEASE_NAME:tbx21_related_disorder TBX21-related disorder Supplemental_disease_name DISEASE_NAME:tbx22_related_disorder TBX22-related disorder Supplemental_disease_name DISEASE_NAME:tbx2_related_disorder TBX2-related disorder Supplemental_disease_name DISEASE_NAME:tbx3_related_disorder TBX3-related disorder Supplemental_disease_name DISEASE_NAME:tbx4_related_disorder TBX4-related disorder Supplemental_disease_name DISEASE_NAME:tbx5_related_disorder TBX5-related disorder Supplemental_disease_name DISEASE_NAME:tbx6_related_disorder TBX6-related disorder Supplemental_disease_name DISEASE_NAME:tbxa2r_related_disorder TBXA2R-related disorder Supplemental_disease_name DISEASE_NAME:tbxas1_related_disorder TBXAS1-related disorder Supplemental_disease_name DISEASE_NAME:tbxt_related_disorder TBXT-related disorder Supplemental_disease_name DISEASE_NAME:tcap_related_disorder TCAP-related disorder Supplemental_disease_name DISEASE_NAME:tcf12_related_craniosynostosis TCF12-related craniosynostosis Supplemental_disease_name DISEASE_NAME:tcf12_related_craniosynostosis_hypogonadotropic_hypogonadism_26_with_or_without_anosmia TCF12-related craniosynostosis;Hypogonadotropic hypogonadism 26 with or without anosmia Supplemental_disease_name DISEASE_NAME:tcf12_related_disorder TCF12-related disorder Supplemental_disease_name DISEASE_NAME:tcf20_related_disorder TCF20-related disorder Supplemental_disease_name DISEASE_NAME:tcf20_related_neurodevelopmental_disorder TCF20-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tcf21_related_disorder TCF21-related disorder Supplemental_disease_name DISEASE_NAME:tcf3_related_disorder TCF3-related disorder Supplemental_disease_name DISEASE_NAME:tcf4_related_disorder TCF4-related disorder Supplemental_disease_name DISEASE_NAME:tcf7l2_associated_disorder TCF7L2-associated disorder Supplemental_disease_name DISEASE_NAME:tcf7l2_related_disorder TCF7L2-related disorder Supplemental_disease_name DISEASE_NAME:tcf7l2_related_intellectual_disability TCF7L2-related Intellectual disability Supplemental_disease_name DISEASE_NAME:tcf7l2_related_neurodevelopmental_disorder TCF7L2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tcf7l2_relatedintellectual_disability TCF7L2-relatedIntellectual disability Supplemental_disease_name DISEASE_NAME:tcirg1_related_disorder TCIRG1-related disorder Supplemental_disease_name DISEASE_NAME:tcn1_related_disorder TCN1-related disorder Supplemental_disease_name DISEASE_NAME:tcn2_polymorphism TCN2 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:tcn2_related_disorder TCN2-related disorder Supplemental_disease_name DISEASE_NAME:tcof1_related_disorder TCOF1-related disorder Supplemental_disease_name DISEASE_NAME:tcte1_related_disorder TCTE1-related disorder Supplemental_disease_name DISEASE_NAME:tctn1_related_disorder TCTN1-related disorder Supplemental_disease_name DISEASE_NAME:tctn2_related_disorder TCTN2-related disorder Supplemental_disease_name DISEASE_NAME:tctn3_related_disorder TCTN3-related disorder Supplemental_disease_name DISEASE_NAME:tdo2_related_disorder TDO2-related disorder Supplemental_disease_name DISEASE_NAME:tdp1_related_disorder TDP1-related disorder Supplemental_disease_name DISEASE_NAME:tdp2_related_disorder TDP2-related disorder Supplemental_disease_name DISEASE_NAME:tdrd12_related_disorder TDRD12-related disorder Supplemental_disease_name DISEASE_NAME:tdrd6_related_disorder TDRD6-related disorder Supplemental_disease_name DISEASE_NAME:tdrd7_related_disorder TDRD7-related disorder Supplemental_disease_name DISEASE_NAME:tdrd9_related_disorder TDRD9-related disorder Supplemental_disease_name DISEASE_NAME:tead1_related_disorder TEAD1-related disorder Supplemental_disease_name DISEASE_NAME:tecpr2_related_disorder TECPR2-related disorder Supplemental_disease_name DISEASE_NAME:tecr_related_disorder TECR-related disorder Supplemental_disease_name DISEASE_NAME:tecrl_related_disorder TECRL-related disorder Supplemental_disease_name DISEASE_NAME:tecta_related_disorder TECTA-related disorder Supplemental_disease_name DISEASE_NAME:tectb_related_disorder TECTB-related disorder Supplemental_disease_name DISEASE_NAME:teebi_hypertelorism_syndrome_1_oculomaxillofacial_dysostosis Teebi hypertelorism syndrome 1;Oculomaxillofacial dysostosis Supplemental_disease_name DISEASE_NAME:teebi_hypertelorism_syndrome_autosomal_dominant_opitz_g_bbb_syndrome Teebi hypertelorism syndrome;Autosomal dominant Opitz G/BBB syndrome Supplemental_disease_name DISEASE_NAME:tegafur_response Tegafur response Supplemental_disease_name DISEASE_NAME:tegafur_response_toxicity tegafur response - Toxicity Supplemental_disease_name DISEASE_NAME:tek_related_disorder TEK-related disorder Supplemental_disease_name DISEASE_NAME:tekt1_related_disorder TEKT1-related disorder Supplemental_disease_name DISEASE_NAME:telangiectasia_hereditary_hemorrhagic_type_1 Telangiectasia, hereditary hemorrhagic, type 1 Supplemental_disease_name DISEASE_NAME:telangiectasia_hereditary_hemorrhagic_type_2 Telangiectasia, hereditary hemorrhagic, type 2 Supplemental_disease_name DISEASE_NAME:telangiectasia_hereditary_hemorrhagic_type_5 Telangiectasia, hereditary hemorrhagic, type 5 Supplemental_disease_name DISEASE_NAME:telangiectasia_impaired_intellectual_development_microcephaly_metaphyseal_dysplasia_eye_abnormalities_and_short_stature Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature Supplemental_disease_name DISEASE_NAME:telangiectasia_of_the_skin_lip_telangiectasia_oral_cavity_telangiectasia_spontaneous_recurrent_epistaxis Telangiectasia of the skin;Lip telangiectasia;Oral cavity telangiectasia;Spontaneous, recurrent epistaxis Supplemental_disease_name DISEASE_NAME:telecanthus Telecanthus Supplemental_disease_name DISEASE_NAME:telecanthus_global_developmental_delay_specific_learning_disability_malar_flattening Telecanthus;Global developmental delay;Specific learning disability;Malar flattening Supplemental_disease_name DISEASE_NAME:telecanthus_neuropathic_spinal_arthropathy_joint_hypermobility_hyperextensible_skin Telecanthus;Neuropathic spinal arthropathy;Joint hypermobility;Hyperextensible skin Supplemental_disease_name DISEASE_NAME:telo2_related_disorder TELO2-related disorder Supplemental_disease_name DISEASE_NAME:telo2_related_intellectual_disability_neurodevelopmental_disorder TELO2-related intellectual disability-neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:telomere_length_mean_leukocyte Telomere length, mean leukocyte Supplemental_disease_name DISEASE_NAME:telomere_syndrome Telomere syndrome Supplemental_disease_name DISEASE_NAME:temperature_sensitive_oculocutaneous_albinism_type_1 Temperature-sensitive oculocutaneous albinism type 1 Supplemental_disease_name DISEASE_NAME:temple_baraitser_syndrome Temple-Baraitser syndrome Supplemental_disease_name DISEASE_NAME:temple_baraitser_syndrome_zimmermann_laband_syndrome_1 Temple-Baraitser syndrome;Zimmermann-Laband syndrome 1 Supplemental_disease_name DISEASE_NAME:temporomandibular_joint_disorder Temporomandibular joint disorder Supplemental_disease_name DISEASE_NAME:tenm1_related_disorder TENM1-related disorder Supplemental_disease_name DISEASE_NAME:tenm3_related_disorder TENM3-related disorder Supplemental_disease_name DISEASE_NAME:tenm4_related_disorder TENM4-related disorder Supplemental_disease_name DISEASE_NAME:tenorio_syndrome Tenorio syndrome Supplemental_disease_name DISEASE_NAME:tent4b_related_disorder TENT4B-related disorder Supplemental_disease_name DISEASE_NAME:tent5a_related_disorder TENT5A-related disorder Supplemental_disease_name DISEASE_NAME:tep1_related_condition TEP1-related condition Supplemental_disease_name DISEASE_NAME:teratoid_tumor_atypical Teratoid tumor, atypical Supplemental_disease_name DISEASE_NAME:terc_related_disorder TERC-related disorder Supplemental_disease_name DISEASE_NAME:terf1_related_disorder TERF1-related disorder Supplemental_disease_name DISEASE_NAME:terf2_related_disorder TERF2-related disorder Supplemental_disease_name DISEASE_NAME:tert_associated_disorder TERT-associated disorder Supplemental_disease_name DISEASE_NAME:tert_related_disorder TERT-related disorder Supplemental_disease_name DISEASE_NAME:tessadori_van_haaften_neurodevelopmental_syndrome_1 Tessadori-van Haaften neurodevelopmental syndrome 1 Supplemental_disease_name DISEASE_NAME:tessadori_van_haaften_neurodevelopmental_syndrome_2 Tessadori-van Haaften neurodevelopmental syndrome 2 Supplemental_disease_name DISEASE_NAME:tessadori_van_haaften_neurodevelopmental_syndrome_3 Tessadori-Van Haaften neurodevelopmental syndrome 3 Supplemental_disease_name DISEASE_NAME:tessadori_van_haaften_neurodevelopmental_syndrome_4 Tessadori-Van Haaften neurodevelopmental syndrome 4 Supplemental_disease_name DISEASE_NAME:tessier_cleft Tessier cleft Supplemental_disease_name DISEASE_NAME:testicular_anomalies_with_or_without_congenital_heart_disease Testicular anomalies with or without congenital heart disease Supplemental_disease_name DISEASE_NAME:testicular_anomalies_with_or_without_congenital_heart_disease_atrioventricular_septal_defect_4_ventricular_septal_defect_1_atrial_septal_defect_2 Testicular anomalies with or without congenital heart disease;Atrioventricular septal defect 4;Ventricular septal defect 1;Atrial septal defect 2 Supplemental_disease_name DISEASE_NAME:testicular_anomalies_with_or_without_congenital_heart_disease_ventricular_septal_defect_1_atrioventricular_septal_defect_4_tetralogy_of_fallot_atrial_septal_defect_2 Testicular anomalies with or without congenital heart disease;Ventricular septal defect 1;Atrioventricular septal defect 4;Tetralogy of Fallot;Atrial septal defect 2 Supplemental_disease_name DISEASE_NAME:testicular_atrophy Testicular atrophy Supplemental_disease_name DISEASE_NAME:testicular_germ_cell_tumor Testicular germ cell tumor Supplemental_disease_name DISEASE_NAME:testicular_large_cell_calcifying_sertoli_cell_tumor Testicular Large Cell Calcifying Sertoli Cell Tumor Supplemental_disease_name DISEASE_NAME:testosterone_17_beta_dehydrogenase_deficiency Testosterone 17-beta-dehydrogenase deficiency Supplemental_disease_name DISEASE_NAME:tet1_related_disorder TET1-related disorder Supplemental_disease_name DISEASE_NAME:tet2_related_disorder TET2-related disorder Supplemental_disease_name DISEASE_NAME:tet3_deficiency TET3 deficiency Supplemental_disease_name DISEASE_NAME:tet3_related_beck_fahrner_syndrome TET3-Related Beck-Fahrner Syndrome Supplemental_disease_name DISEASE_NAME:tet3_related_disorder TET3-related disorder Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_46_xy_sex_reversal_9_diaphragmatic_hernia_3 Tetralogy of Fallot;46,XY sex reversal 9;Diaphragmatic hernia 3 Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_alagille_syndrome_due_to_a_jag1_point_mutation_charcot_marie_tooth_disease_axonal_type_2hh_deafness_congenital_heart_defects_and_posterior_embryotoxon Tetralogy of Fallot;Alagille syndrome due to a JAG1 point mutation;Charcot-Marie-Tooth disease, axonal, Type 2HH;Deafness, congenital heart defects, and posterior embryotoxon Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_alagille_syndrome_due_to_a_jag1_point_mutation_deafness_congenital_heart_defects_and_posterior_embryotoxon Tetralogy of Fallot;Alagille syndrome due to a JAG1 point mutation;Deafness, congenital heart defects, and posterior embryotoxon Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_alagille_syndrome_due_to_a_jag1_point_mutation_deafness_congenital_heart_defects_and_posterior_embryotoxon_charcot_marie_tooth_disease_axonal_type_2hh Tetralogy of Fallot;Alagille syndrome due to a JAG1 point mutation;Deafness, congenital heart defects, and posterior embryotoxon;Charcot-Marie-Tooth disease, axonal, Type 2HH Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_atrial_septal_defect_2_testicular_anomalies_with_or_without_congenital_heart_disease_ventricular_septal_defect_1_atrioventricular_septal_defect_4 Tetralogy of Fallot;Atrial septal defect 2;Testicular anomalies with or without congenital heart disease;Ventricular septal defect 1;Atrioventricular septal defect 4 Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_atrial_septal_defect_9_conotruncal_heart_malformations_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome_atrioventricular_septal_defect_5 Tetralogy of Fallot;Atrial septal defect 9;Conotruncal heart malformations;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Atrioventricular septal defect 5 Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_atrioventricular_septal_defect_5_atrial_septal_defect_9_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome_conotruncal_heart_malformations Tetralogy of Fallot;Atrioventricular septal defect 5;Atrial septal defect 9;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Conotruncal heart malformations Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_charcot_marie_tooth_disease_axonal_type_2hh_alagille_syndrome_due_to_a_jag1_point_mutation_deafness_congenital_heart_defects_and_posterior_embryotoxon Tetralogy of Fallot;Charcot-Marie-Tooth disease, axonal, Type 2HH;Alagille syndrome due to a JAG1 point mutation;Deafness, congenital heart defects, and posterior embryotoxon Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_charcot_marie_tooth_disease_axonal_type_2hh_deafness_congenital_heart_defects_and_posterior_embryotoxon_alagille_syndrome_due_to_a_jag1_point_mutation Tetralogy of Fallot;Charcot-Marie-Tooth disease, axonal, Type 2HH;Deafness, congenital heart defects, and posterior embryotoxon;Alagille syndrome due to a JAG1 point mutation Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_conotruncal_heart_malformations_atrial_septal_defect_9_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome_atrioventricular_septal_defect_5 Tetralogy of Fallot;Conotruncal heart malformations;Atrial septal defect 9;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Atrioventricular septal defect 5 Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_conotruncal_heart_malformations_atrioventricular_septal_defect_5_atrial_septal_defect_9_pancreatic_hypoplasia_diabetes_congenital_heart_disease_syndrome Tetralogy of Fallot;Conotruncal heart malformations;Atrioventricular septal defect 5;Atrial septal defect 9;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_conotruncal_heart_malformations_digeorge_syndrome_velocardiofacial_syndrome Tetralogy of Fallot;Conotruncal heart malformations;DiGeorge syndrome;Velocardiofacial syndrome Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_conotruncal_heart_malformations_velocardiofacial_syndrome_digeorge_syndrome Tetralogy of Fallot;Conotruncal heart malformations;Velocardiofacial syndrome;DiGeorge syndrome Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_deafness_congenital_heart_defects_and_posterior_embryotoxon_alagille_syndrome_due_to_a_jag1_point_mutation Tetralogy of Fallot;Deafness, congenital heart defects, and posterior embryotoxon;Alagille syndrome due to a JAG1 point mutation Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_deafness_congenital_heart_defects_and_posterior_embryotoxon_alagille_syndrome_due_to_a_jag1_point_mutation_charcot_marie_tooth_disease_axonal_type_2hh Tetralogy of Fallot;Deafness, congenital heart defects, and posterior embryotoxon;Alagille syndrome due to a JAG1 point mutation;Charcot-Marie-Tooth disease, axonal, Type 2HH Supplemental_disease_name DISEASE_NAME:tetralogy_of_fallot_deafness_congenital_heart_defects_and_posterior_embryotoxon_charcot_marie_tooth_disease_axonal_type_2hh_alagille_syndrome_due_to_a_jag1_point_mutation Tetralogy of Fallot;Deafness, congenital heart defects, and posterior embryotoxon;Charcot-Marie-Tooth disease, axonal, Type 2HH;Alagille syndrome due to a JAG1 point mutation Supplemental_disease_name DISEASE_NAME:tetrasomy_9p Tetrasomy 9p Supplemental_disease_name DISEASE_NAME:tex11_related_disorder TEX11-related disorder Supplemental_disease_name DISEASE_NAME:tex13c_related_disorder TEX13C-related disorder Supplemental_disease_name DISEASE_NAME:tex14_related_disorder TEX14-related disorder Supplemental_disease_name DISEASE_NAME:tex15_related_disorder TEX15-related disorder Supplemental_disease_name DISEASE_NAME:tf_c2 TF*C2 Supplemental_disease_name DISEASE_NAME:tf_related_disorder TF-related disorder Supplemental_disease_name DISEASE_NAME:tfam_related_disorder TFAM-related disorder Supplemental_disease_name DISEASE_NAME:tfap2a_related_disorder TFAP2A-related disorder Supplemental_disease_name DISEASE_NAME:tfap2b_related_congenital_heart_disease_spectrum_disorder TFAP2B-related congenital heart disease spectrum disorder Supplemental_disease_name DISEASE_NAME:tfap2b_related_disorder TFAP2B-related disorder Supplemental_disease_name DISEASE_NAME:tfcp2_related_disorder TFCP2-related disorder Supplemental_disease_name DISEASE_NAME:tfe3_associated_neurodevelopmental_disorder TFE3-Associated Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tfe3_related_disorder TFE3-related disorder Supplemental_disease_name DISEASE_NAME:tfg_related_disorder TFG-related disorder Supplemental_disease_name DISEASE_NAME:tfg_related_spastic_paraplegia TFG-related Spastic paraplegia Supplemental_disease_name DISEASE_NAME:tfr2_related_disorder TFR2-related disorder Supplemental_disease_name DISEASE_NAME:tfrc_related_disorder TFRC-related disorder Supplemental_disease_name DISEASE_NAME:tg_related_disorder TG-related disorder Supplemental_disease_name DISEASE_NAME:tgds_related_disorder TGDS-related disorder Supplemental_disease_name DISEASE_NAME:tgfb1_related_disorder TGFB1-related disorder Supplemental_disease_name DISEASE_NAME:tgfb2_related_disorder TGFB2-related disorder Supplemental_disease_name DISEASE_NAME:tgfb3_related_connective_tissue_disorders TGFB3-related connective tissue disorders Supplemental_disease_name DISEASE_NAME:tgfb3_related_disorder TGFB3-related disorder Supplemental_disease_name DISEASE_NAME:tgfbi_related_disorder TGFBI-related disorder Supplemental_disease_name DISEASE_NAME:tgfbr1_related_disorder TGFBR1-related disorder Supplemental_disease_name DISEASE_NAME:tgfbr2_related_disorder TGFBR2-related disorder Supplemental_disease_name DISEASE_NAME:tgfbr3_related_disorder TGFBR3-related disorder Supplemental_disease_name DISEASE_NAME:tgif1_related_disorder TGIF1-related disorder Supplemental_disease_name DISEASE_NAME:tgm1_related_disorder TGM1-related disorder Supplemental_disease_name DISEASE_NAME:tgm3_related_disorder TGM3-related disorder Supplemental_disease_name DISEASE_NAME:tgm5_related_disorder TGM5-related disorder Supplemental_disease_name DISEASE_NAME:tgm6_related_disorder TGM6-related disorder Supplemental_disease_name DISEASE_NAME:th_related_disorder TH-related disorder Supplemental_disease_name DISEASE_NAME:thada_related_disorder THADA-related disorder Supplemental_disease_name DISEASE_NAME:thalassemia_gamma_delta_beta Thalassemia, gamma-delta-beta Supplemental_disease_name DISEASE_NAME:thalassemia_intermedia Thalassemia intermedia Supplemental_disease_name DISEASE_NAME:thalidomide_response Thalidomide response Supplemental_disease_name DISEASE_NAME:thanatophoric_dysplasia_type_1 Thanatophoric dysplasia type 1 Supplemental_disease_name DISEASE_NAME:thanatophoric_dysplasia_type_1_achondroplasia Thanatophoric dysplasia type 1;Achondroplasia Supplemental_disease_name DISEASE_NAME:thanatophoric_dysplasia_type_1_thanatophoric_dysplasia_type_2 Thanatophoric dysplasia type 1;Thanatophoric dysplasia, type 2 Supplemental_disease_name DISEASE_NAME:thanatophoric_dysplasia_type_2 Thanatophoric dysplasia, type 2 Supplemental_disease_name DISEASE_NAME:thap11_related_disorder THAP11-related disorder Supplemental_disease_name DISEASE_NAME:thap1_related_disorder THAP1-related disorder Supplemental_disease_name DISEASE_NAME:thbd_related_disorder THBD-related disorder Supplemental_disease_name DISEASE_NAME:thbs1_related_disorder THBS1-related disorder Supplemental_disease_name DISEASE_NAME:thbs2_related_disorder THBS2-related disorder Supplemental_disease_name DISEASE_NAME:thecoma_somatic Thecoma, somatic Supplemental_disease_name DISEASE_NAME:thg1l_related_disorder THG1L-related disorder Supplemental_disease_name DISEASE_NAME:thiamine_metabolism_dysfunction_syndrome Thiamine metabolism dysfunction syndrome Supplemental_disease_name DISEASE_NAME:thiamine_metabolism_dysfunction_syndrome_2_biotin_thiamine_responsive_basal_ganglia_disease_type Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) Supplemental_disease_name DISEASE_NAME:thiamine_responsive_megaloblastic_anemia Thiamine-responsive megaloblastic anemia Supplemental_disease_name DISEASE_NAME:thickened_nuchal_skin_fold_hydrops_fetalis Thickened nuchal skin fold;Hydrops fetalis Supplemental_disease_name DISEASE_NAME:thickened_nuchal_skin_fold_polyhydramnios_hydrops_fetalis Thickened nuchal skin fold;Polyhydramnios;Hydrops fetalis Supplemental_disease_name DISEASE_NAME:thin_upper_lip_vermilion_almond_shaped_palpebral_fissure_global_developmental_delay Thin upper lip vermilion;Almond-shaped palpebral fissure;Global developmental delay Supplemental_disease_name DISEASE_NAME:thiopurine_response Thiopurine response Supplemental_disease_name DISEASE_NAME:thiopurines_poor_metabolism_of_2 Thiopurines, poor metabolism of, 2 Supplemental_disease_name DISEASE_NAME:thoc2_related_disorder THOC2-related disorder Supplemental_disease_name DISEASE_NAME:thoc6_related_developmental_delay_microcephaly_facial_dysmorphism_syndrome THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:thoc6_related_disorder THOC6-related disorder Supplemental_disease_name DISEASE_NAME:thop1_related_disorder THOP1-related disorder Supplemental_disease_name DISEASE_NAME:thoracic_aortic_aneurysm_and_aortic_dissection Thoracic aortic aneurysm and aortic dissection Supplemental_disease_name DISEASE_NAME:thoracic_aortic_aneurysm_or_dissection Thoracic aortic aneurysm or dissection Supplemental_disease_name DISEASE_NAME:thoracic_aortic_disease Thoracic aortic disease Supplemental_disease_name DISEASE_NAME:thoracic_aortic_dissection Thoracic aortic dissection Supplemental_disease_name DISEASE_NAME:thoracic_aortic_dissection_loeys_dietz_syndrome_thoracic_aortic_aneurysm Thoracic aortic dissection;Loeys-Dietz syndrome;Thoracic aortic aneurysm Supplemental_disease_name DISEASE_NAME:thoracic_kyphoscoliosis_areflexia_of_lower_limbs_spinal_rigidity_bilateral_talipes_equinovarus_restrictive_ventilatory_defect Thoracic kyphoscoliosis;Areflexia of lower limbs;Spinal rigidity;Bilateral talipes equinovarus;Restrictive ventilatory defect Supplemental_disease_name DISEASE_NAME:thoracolumbar_scoliosis_central_hypotonia_generalized_hypotonia_aplasia_hypoplasia_of_the_nails_strabismus Thoracolumbar scoliosis;Central hypotonia;Generalized hypotonia;Aplasia/Hypoplasia of the nails;Strabismus Supplemental_disease_name DISEASE_NAME:thpo_related_disorder THPO-related disorder Supplemental_disease_name DISEASE_NAME:thra_related_disorder THRA-related disorder Supplemental_disease_name DISEASE_NAME:thrb_related_disorder THRB-related disorder Supplemental_disease_name DISEASE_NAME:three_vessel_coronary_disease Three Vessel Coronary Disease Supplemental_disease_name DISEASE_NAME:thrombocythemia Thrombocythemia Supplemental_disease_name DISEASE_NAME:thrombocythemia_1 Thrombocythemia 1 Supplemental_disease_name DISEASE_NAME:thrombocythemia_1_acute_myeloid_leukemia Thrombocythemia 1;Acute myeloid leukemia Supplemental_disease_name DISEASE_NAME:thrombocythemia_1_amegakaryocytic_thrombocytopenia_congenital_2_thrombocytopenia_9 Thrombocythemia 1;Amegakaryocytic thrombocytopenia, congenital, 2;Thrombocytopenia 9 Supplemental_disease_name DISEASE_NAME:thrombocythemia_1_primary_familial_polycythemia_due_to_epo_receptor_mutation_primary_myelofibrosis Thrombocythemia 1;Primary familial polycythemia due to EPO receptor mutation;Primary myelofibrosis Supplemental_disease_name DISEASE_NAME:thrombocythemia_2 Thrombocythemia 2 Supplemental_disease_name DISEASE_NAME:thrombocythemia_2_congenital_amegakaryocytic_thrombocytopenia_1_primary_myelofibrosis Thrombocythemia 2;Congenital amegakaryocytic thrombocytopenia 1;Primary myelofibrosis Supplemental_disease_name DISEASE_NAME:thrombocythemia_2_primary_myelofibrosis_congenital_amegakaryocytic_thrombocytopenia Thrombocythemia 2;Primary myelofibrosis;Congenital amegakaryocytic thrombocytopenia Supplemental_disease_name DISEASE_NAME:thrombocythemia_2_primary_myelofibrosis_congenital_amegakaryocytic_thrombocytopenia_1 Thrombocythemia 2;Primary myelofibrosis;Congenital amegakaryocytic thrombocytopenia 1 Supplemental_disease_name DISEASE_NAME:thrombocythemia_2_somatic Thrombocythemia 2, somatic Supplemental_disease_name DISEASE_NAME:thrombocythemia_3 Thrombocythemia 3 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_1 Thrombocytopenia 1 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_10 Thrombocytopenia 10 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_11_with_multiple_congenital_anomalies_and_dysmorphic_facies Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies Supplemental_disease_name DISEASE_NAME:thrombocytopenia_12_with_or_without_myopathy Thrombocytopenia 12 with or without myopathy Supplemental_disease_name DISEASE_NAME:thrombocytopenia_12_with_or_without_myopathy_gne_myopathy Thrombocytopenia 12 with or without myopathy;GNE myopathy Supplemental_disease_name DISEASE_NAME:thrombocytopenia_12_with_or_without_myopathy_gne_myopathy_sialuria Thrombocytopenia 12 with or without myopathy;GNE myopathy;Sialuria Supplemental_disease_name DISEASE_NAME:thrombocytopenia_12_with_or_without_myopathy_sialuria_gne_myopathy Thrombocytopenia 12 with or without myopathy;Sialuria;GNE myopathy Supplemental_disease_name DISEASE_NAME:thrombocytopenia_13_syndromic Thrombocytopenia 13, syndromic Supplemental_disease_name DISEASE_NAME:thrombocytopenia_13_syndromic_udpglucose_4_epimerase_deficiency Thrombocytopenia 13, syndromic;UDPglucose-4-epimerase deficiency Supplemental_disease_name DISEASE_NAME:thrombocytopenia_1_wiskott_aldrich_syndrome_x_linked_severe_congenital_neutropenia Thrombocytopenia 1;Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia Supplemental_disease_name DISEASE_NAME:thrombocytopenia_1_x_linked_severe_congenital_neutropenia_wiskott_aldrich_syndrome Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome Supplemental_disease_name DISEASE_NAME:thrombocytopenia_2 Thrombocytopenia 2 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_3 Thrombocytopenia 3 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_4 Thrombocytopenia 4 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_5 Thrombocytopenia 5 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_6 Thrombocytopenia 6 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_7 Thrombocytopenia 7 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_9 Thrombocytopenia 9 Supplemental_disease_name DISEASE_NAME:thrombocytopenia_abnormal_bleeding Thrombocytopenia;Abnormal bleeding Supplemental_disease_name DISEASE_NAME:thrombocytopenia_acute_lymphoid_leukemia Thrombocytopenia;Acute lymphoid leukemia Supplemental_disease_name DISEASE_NAME:thrombocytopenia_anemia_and_myelofibrosis Thrombocytopenia, anemia, and myelofibrosis Supplemental_disease_name DISEASE_NAME:thrombocytopenia_hyperkalemia_stage_5_chronic_kidney_disease_hypertensive_disorder Thrombocytopenia;Hyperkalemia;Stage 5 chronic kidney disease;Hypertensive disorder Supplemental_disease_name DISEASE_NAME:thrombocytopenia_x_linked_intermittent THROMBOCYTOPENIA, X-LINKED, INTERMITTENT Supplemental_disease_name DISEASE_NAME:thrombocytopenia_x_linked_with_dyserythropoietic_anemia Thrombocytopenia, X-linked, with dyserythropoietic anemia Supplemental_disease_name DISEASE_NAME:thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia Thrombocytopenia, X-linked, with or without dyserythropoietic anemia Supplemental_disease_name DISEASE_NAME:thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia_transient_myeloproliferative_syndrome_hemolytic_anemia_due_to_erythrocyte_adenosine_deaminase_overproduction_x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia_beta_thalassemia_x_linked_thrombocytopenia_syndrome Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;Transient myeloproliferative syndrome;Hemolytic anemia due to erythrocyte adenosine deaminase overproduction;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia;Beta-thalassemia-X-linked thrombocytopenia syndrome Supplemental_disease_name DISEASE_NAME:thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia_x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia_beta_thalassemia_x_linked_thrombocytopenia_syndrome_transient_myeloproliferative_syndrome_hemolytic_anemia_due_to_erythrocyte_adenosine_deaminase_overproduction Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia;Beta-thalassemia-X-linked thrombocytopenia syndrome;Transient myeloproliferative syndrome;Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Supplemental_disease_name DISEASE_NAME:thrombocytopenia_x_linked_without_dyserythropoietic_anemia Thrombocytopenia, X-linked, without dyserythropoietic anemia Supplemental_disease_name DISEASE_NAME:thromboembolism Thromboembolism Supplemental_disease_name DISEASE_NAME:thromboembolism_deep_venous_thrombosis Thromboembolism;Deep venous thrombosis Supplemental_disease_name DISEASE_NAME:thrombomodulin_related_bleeding_disorder_atypical_hemolytic_uremic_syndrome_with_thrombomodulin_anomaly Thrombomodulin-related bleeding disorder;Atypical hemolytic-uremic syndrome with thrombomodulin anomaly Supplemental_disease_name DISEASE_NAME:thrombophilia_3_due_to_protein_c_deficiency Thrombophilia 3 due to protein C deficiency Supplemental_disease_name DISEASE_NAME:thrombophilia_caused_by_f2_prothrombin_deficiency Thrombophilia caused by F2 prothrombin deficiency Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_activated_protein_c_resistance_budd_chiari_syndrome_congenital_factor_v_deficiency_ischemic_stroke_pregnancy_loss_recurrent_susceptibility_to_1 Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;Congenital factor V deficiency;Ischemic stroke;Pregnancy loss, recurrent, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_activated_protein_c_resistance_budd_chiari_syndrome_congenital_factor_v_deficiency_pregnancy_loss_recurrent_susceptibility_to_1_ischemic_stroke Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;Congenital factor V deficiency;Pregnancy loss, recurrent, susceptibility to, 1;Ischemic stroke Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_activated_protein_c_resistance_congenital_factor_v_deficiency_pregnancy_loss_recurrent_susceptibility_to_1_budd_chiari_syndrome_ischemic_stroke Thrombophilia due to activated protein C resistance;Congenital factor V deficiency;Pregnancy loss, recurrent, susceptibility to, 1;Budd-Chiari syndrome;Ischemic stroke Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_activated_protein_c_resistance_factor_v_deficiency Thrombophilia due to activated protein C resistance;Factor V deficiency Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_activated_protein_c_resistance_pregnancy_loss_recurrent_susceptibility_to_1_congenital_factor_v_deficiency_budd_chiari_syndrome_ischemic_stroke Thrombophilia due to activated protein C resistance;Pregnancy loss, recurrent, susceptibility to, 1;Congenital factor V deficiency;Budd-Chiari syndrome;Ischemic stroke Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_activated_protein_c_resistance_pregnancy_loss_recurrent_susceptibility_to_1_ischemic_stroke_budd_chiari_syndrome_congenital_factor_v_deficiency Thrombophilia due to activated protein C resistance;Pregnancy loss, recurrent, susceptibility to, 1;Ischemic stroke;Budd-Chiari syndrome;Congenital factor V deficiency Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_protein_c_deficiency_autosomal_dominant Thrombophilia due to protein C deficiency, autosomal dominant Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_protein_c_deficiency_autosomal_dominant_thrombophilia_due_to_protein_c_deficiency_autosomal_recessive Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_protein_c_deficiency_autosomal_recessive Thrombophilia due to protein C deficiency, autosomal recessive Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_protein_c_deficiency_autosomal_recessive_thrombophilia_due_to_protein_c_deficiency_autosomal_dominant Thrombophilia due to protein C deficiency, autosomal recessive;Thrombophilia due to protein C deficiency, autosomal dominant Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_protein_s_deficiency_autosomal_dominant Thrombophilia due to protein S deficiency, autosomal dominant Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_protein_s_deficiency_autosomal_dominant_thrombophilia_due_to_protein_s_deficiency_autosomal_recessive Thrombophilia due to protein S deficiency, autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_protein_s_deficiency_autosomal_recessive Thrombophilia due to protein S deficiency, autosomal recessive Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_protein_s_deficiency_autosomal_recessive_thrombophilia_due_to_protein_s_deficiency_autosomal_dominant Thrombophilia due to protein S deficiency, autosomal recessive;Thrombophilia due to protein S deficiency, autosomal dominant Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_thrombin_defect_factor_xiii_a_subunit_deficiency_of Thrombophilia due to thrombin defect;Factor XIII, A subunit, deficiency of Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_thrombin_defect_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_neural_tube_defects_folate_sensitive_schizophrenia Thrombophilia due to thrombin defect;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Neural tube defects, folate-sensitive;Schizophrenia Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_thrombin_defect_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_schizophrenia_neural_tube_defects_folate_sensitive Thrombophilia due to thrombin defect;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Schizophrenia;Neural tube defects, folate-sensitive Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_thrombin_defect_myocardial_infarction_susceptibility_to_factor_xiii_a_subunit_deficiency_of Thrombophilia due to thrombin defect;Myocardial infarction, susceptibility to;Factor XIII, A subunit, deficiency of Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_thrombin_defect_neural_tube_defects_folate_sensitive_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_schizophrenia Thrombophilia due to thrombin defect;Neural tube defects, folate-sensitive;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Schizophrenia Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_thrombin_defect_neural_tube_defects_folate_sensitive_schizophrenia_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency Thrombophilia due to thrombin defect;Neural tube defects, folate-sensitive;Schizophrenia;Homocystinuria due to methylene tetrahydrofolate reductase deficiency Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_thrombin_defect_pregnancy_loss_recurrent_susceptibility_to_2_congenital_prothrombin_deficiency_ischemic_stroke Thrombophilia due to thrombin defect;Pregnancy loss, recurrent, susceptibility to, 2;Congenital prothrombin deficiency;Ischemic stroke Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_thrombin_defect_schizophrenia_homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency_neural_tube_defects_folate_sensitive Thrombophilia due to thrombin defect;Schizophrenia;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Neural tube defects, folate-sensitive Supplemental_disease_name DISEASE_NAME:thrombophilia_due_to_thrombin_defect_thyroid_cancer_nonmedullary_5 Thrombophilia due to thrombin defect;Thyroid cancer, nonmedullary, 5 Supplemental_disease_name DISEASE_NAME:thrombophilia_with_a_likely_monogenic_cause Thrombophilia with a likely monogenic cause Supplemental_disease_name DISEASE_NAME:thrombophilia_x_linked_due_to_factor_8_defect Thrombophilia, X-linked, due to factor 8 defect Supplemental_disease_name DISEASE_NAME:thrombophilia_x_linked_due_to_factor_8_defect_hereditary_factor_viii_deficiency_disease Thrombophilia, X-linked, due to factor 8 defect;Hereditary factor VIII deficiency disease Supplemental_disease_name DISEASE_NAME:thrombophilia_x_linked_due_to_factor_9_defect Thrombophilia, X-linked, due to factor 9 defect Supplemental_disease_name DISEASE_NAME:thrombophilia_x_linked_due_to_factor_9_defect_hereditary_factor_ix_deficiency_disease Thrombophilia, X-linked, due to factor 9 defect;Hereditary factor IX deficiency disease Supplemental_disease_name DISEASE_NAME:thrombophilia_x_linked_due_to_factor_9_defect_hereditary_factor_ix_deficiency_disease_warfarin_sensitivity_x_linked Thrombophilia, X-linked, due to factor 9 defect;Hereditary factor IX deficiency disease;Warfarin sensitivity, X-linked Supplemental_disease_name DISEASE_NAME:thrombophilia_x_linked_due_to_factor_9_defect_warfarin_sensitivity_x_linked_hereditary_factor_ix_deficiency_disease Thrombophilia, X-linked, due to factor 9 defect;Warfarin sensitivity, X-linked;Hereditary factor IX deficiency disease Supplemental_disease_name DISEASE_NAME:thrombotic_microangiopathy Thrombotic microangiopathy Supplemental_disease_name DISEASE_NAME:thrombotic_stroke Thrombotic stroke Supplemental_disease_name DISEASE_NAME:thromboxane_synthetase_deficiency Thromboxane synthetase deficiency Supplemental_disease_name DISEASE_NAME:thromboxane_synthetase_deficiency_ghosal_hematodiaphyseal_dysplasia Thromboxane synthetase deficiency;Ghosal hematodiaphyseal dysplasia Supplemental_disease_name DISEASE_NAME:thrombus Thrombus Supplemental_disease_name DISEASE_NAME:thsd1_related_disorder THSD1-related disorder Supplemental_disease_name DISEASE_NAME:thsd4_related_disorder THSD4-related disorder Supplemental_disease_name DISEASE_NAME:thsd7a_related_disorder THSD7A-related disorder Supplemental_disease_name DISEASE_NAME:thyroglobulin_synthesis_defect Thyroglobulin synthesis defect Supplemental_disease_name DISEASE_NAME:thyroid_adenoma_hyperfunctioning_somatic Thyroid adenoma, hyperfunctioning, somatic Supplemental_disease_name DISEASE_NAME:thyroid_cancer_carcinoma Thyroid cancer/carcinoma Supplemental_disease_name DISEASE_NAME:thyroid_cancer_nonmedullary_1 Thyroid cancer, nonmedullary, 1 Supplemental_disease_name DISEASE_NAME:thyroid_cancer_nonmedullary_1_brain_lung_thyroid_syndrome_benign_hereditary_chorea Thyroid cancer, nonmedullary, 1;Brain-lung-thyroid syndrome;Benign hereditary chorea Supplemental_disease_name DISEASE_NAME:thyroid_cancer_nonmedullary_2 Thyroid cancer, nonmedullary, 2 Supplemental_disease_name DISEASE_NAME:thyroid_cancer_nonmedullary_4 Thyroid cancer, nonmedullary, 4 Supplemental_disease_name DISEASE_NAME:thyroid_cancer_nonmedullary_4_bamforth_lazarus_syndrome Thyroid cancer, nonmedullary, 4;Bamforth-Lazarus syndrome Supplemental_disease_name DISEASE_NAME:thyroid_cancer_nonmedullary_5 Thyroid cancer, nonmedullary, 5 Supplemental_disease_name DISEASE_NAME:thyroid_cancer_nonmedullary_5_susceptibility_to THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:thyroid_cancer_nonmedullary_5_thrombophilia_due_to_thrombin_defect Thyroid cancer, nonmedullary, 5;Thrombophilia due to thrombin defect Supplemental_disease_name DISEASE_NAME:thyroid_carcinoma_sporadic_medullary Thyroid carcinoma, sporadic medullary Supplemental_disease_name DISEASE_NAME:thyroid_carcinoma_with_thyrotoxicosis_somatic THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC Supplemental_disease_name DISEASE_NAME:thyroid_dyshormonogenesis Thyroid dyshormonogenesis Supplemental_disease_name DISEASE_NAME:thyroid_dyshormonogenesis_6_familial_thyroid_dyshormonogenesis Thyroid dyshormonogenesis 6;Familial thyroid dyshormonogenesis Supplemental_disease_name DISEASE_NAME:thyroid_gland_undifferentiated_anaplastic_carcinoma Thyroid gland undifferentiated (anaplastic) carcinoma Supplemental_disease_name DISEASE_NAME:thyroid_hemiagenesis Thyroid hemiagenesis Supplemental_disease_name DISEASE_NAME:thyroid_hormone_metabolism_abnormal_1 Thyroid hormone metabolism, abnormal 1 Supplemental_disease_name DISEASE_NAME:thyroid_hormone_metabolism_abnormal_2 Thyroid hormone metabolism, abnormal, 2 Supplemental_disease_name DISEASE_NAME:thyroid_hormone_metabolism_abnormal_3 Thyroid hormone metabolism, abnormal, 3 Supplemental_disease_name DISEASE_NAME:thyroid_hormone_resistance_generalized_autosomal_dominant Thyroid hormone resistance, generalized, autosomal dominant Supplemental_disease_name DISEASE_NAME:thyroid_hormone_resistance_generalized_autosomal_dominant_selective_pituitary_resistance_to_thyroid_hormone Thyroid hormone resistance, generalized, autosomal dominant;Selective pituitary resistance to thyroid hormone Supplemental_disease_name DISEASE_NAME:thyroid_hormone_resistance_generalized_autosomal_dominant_thyroid_hormone_resistance_generalized_autosomal_recessive Thyroid hormone resistance, generalized, autosomal dominant;Thyroid hormone resistance, generalized, autosomal recessive Supplemental_disease_name DISEASE_NAME:thyroid_hormone_resistance_generalized_autosomal_dominant_thyroid_hormone_resistance_generalized_autosomal_recessive_selective_pituitary_resistance_to_thyroid_hormone Thyroid hormone resistance, generalized, autosomal dominant;Thyroid hormone resistance, generalized, autosomal recessive;Selective pituitary resistance to thyroid hormone Supplemental_disease_name DISEASE_NAME:thyroid_hormone_resistance_generalized_autosomal_recessive Thyroid hormone resistance, generalized, autosomal recessive Supplemental_disease_name DISEASE_NAME:thyroid_hormone_resistance_generalized_autosomal_recessive_selective_pituitary_resistance_to_thyroid_hormone_thyroid_hormone_resistance_generalized_autosomal_dominant Thyroid hormone resistance, generalized, autosomal recessive;Selective pituitary resistance to thyroid hormone;Thyroid hormone resistance, generalized, autosomal dominant Supplemental_disease_name DISEASE_NAME:thyroid_tumor Thyroid tumor Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis Thyrotoxic periodic paralysis Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_1 Thyrotoxic periodic paralysis, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_1_congenital_myopathy_18_hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5 Thyrotoxic periodic paralysis, susceptibility to, 1;Congenital myopathy 18;Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_1_congenital_myopathy_18_malignant_hyperthermia_susceptibility_to_5_hypokalemic_periodic_paralysis_type_1 Thyrotoxic periodic paralysis, susceptibility to, 1;Congenital myopathy 18;Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_1_hypokalemic_periodic_paralysis_type_1_congenital_myopathy_18_malignant_hyperthermia_susceptibility_to_5 Thyrotoxic periodic paralysis, susceptibility to, 1;Hypokalemic periodic paralysis, type 1;Congenital myopathy 18;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_1_hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5 Thyrotoxic periodic paralysis, susceptibility to, 1;Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_1_hypokalemic_periodic_paralysis_type_1_malignant_hyperthermia_susceptibility_to_5_congenital_myopathy_18 Thyrotoxic periodic paralysis, susceptibility to, 1;Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5;Congenital myopathy 18 Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_1_malignant_hyperthermia_susceptibility_to_5_congenital_myopathy_18_hypokalemic_periodic_paralysis_type_1 Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia, susceptibility to, 5;Congenital myopathy 18;Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_1_malignant_hyperthermia_susceptibility_to_5_hypokalemic_periodic_paralysis_type_1 Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_1_malignant_hyperthermia_susceptibility_to_5_hypokalemic_periodic_paralysis_type_1_congenital_myopathy_18 Thyrotoxic periodic paralysis, susceptibility to, 1;Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1;Congenital myopathy 18 Supplemental_disease_name DISEASE_NAME:thyrotoxic_periodic_paralysis_susceptibility_to_2 Thyrotoxic periodic paralysis, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:thyroxine_binding_globulin_chicago Thyroxine-binding globulin, Chicago Supplemental_disease_name DISEASE_NAME:thyroxine_binding_globulin_deficiency Thyroxine-binding globulin deficiency Supplemental_disease_name DISEASE_NAME:thyroxine_binding_globulin_deficiency_partial Thyroxine-binding globulin deficiency, partial Supplemental_disease_name DISEASE_NAME:thyroxine_binding_globulin_quantitative_trait_locus Thyroxine-binding globulin quantitative trait locus Supplemental_disease_name DISEASE_NAME:thyroxine_binding_globulin_slow Thyroxine-binding globulin, slow Supplemental_disease_name DISEASE_NAME:thyroxine_binding_globulin_variant_a Thyroxine-binding globulin, variant A Supplemental_disease_name DISEASE_NAME:thyroxine_binding_globulin_variant_p Thyroxine-binding globulin, variant P Supplemental_disease_name DISEASE_NAME:tia1_related_disorder TIA1-related disorder Supplemental_disease_name DISEASE_NAME:tiam1_related_disorder TIAM1-related disorder Supplemental_disease_name DISEASE_NAME:tibia_hypoplasia_or_aplasia_of_with_polydactyly Tibia, hypoplasia or aplasia of, with polydactyly Supplemental_disease_name DISEASE_NAME:tibial_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j Tibial muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2J Supplemental_disease_name DISEASE_NAME:tibial_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_primary_dilated_cardiomyopathy_centronuclear_myopathy_myopathy_myofibrillar_9_with_early_respiratory_failure Tibial muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2J;Primary dilated cardiomyopathy;Centronuclear myopathy;Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure Supplemental_disease_name DISEASE_NAME:tibial_muscular_dystrophy_myopathy_myofibrillar_9_with_early_respiratory_failure_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2j_primary_dilated_cardiomyopathy Tibial muscular dystrophy;Myopathy, myofibrillar, 9, with early respiratory failure;Autosomal recessive limb-girdle muscular dystrophy type 2J;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:tibial_pseudarthrosis Tibial pseudarthrosis Supplemental_disease_name DISEASE_NAME:tibial_pseudarthrosis_cafe_au_lait_spots_multiple Tibial pseudarthrosis;Cafe au lait spots, multiple Supplemental_disease_name DISEASE_NAME:tibial_pseudarthrosis_neurofibromatosis_type_1 Tibial pseudarthrosis;Neurofibromatosis, type 1 Supplemental_disease_name DISEASE_NAME:ticam1_related_disorder TICAM1-related disorder Supplemental_disease_name DISEASE_NAME:tics Tics Supplemental_disease_name DISEASE_NAME:tie1_related_disorder TIE1-related disorder Supplemental_disease_name DISEASE_NAME:tietz_syndrome_melanoma_cutaneous_malignant_susceptibility_to_8_waardenburg_syndrome_type_2a Tietz syndrome;Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome type 2A Supplemental_disease_name DISEASE_NAME:tietz_syndrome_melanoma_cutaneous_malignant_susceptibility_to_8_waardenburg_syndrome_type_2a_coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness Tietz syndrome;Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome type 2A;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Supplemental_disease_name DISEASE_NAME:tietz_syndrome_waardenburg_syndrome_type_2a Tietz syndrome;Waardenburg syndrome type 2A Supplemental_disease_name DISEASE_NAME:tietz_syndrome_waardenburg_syndrome_type_2a_coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness_melanoma_cutaneous_malignant_susceptibility_to_8 Tietz syndrome;Waardenburg syndrome type 2A;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Melanoma, cutaneous malignant, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:tietz_syndrome_waardenburg_syndrome_type_2a_melanoma_cutaneous_malignant_susceptibility_to_8 Tietz syndrome;Waardenburg syndrome type 2A;Melanoma, cutaneous malignant, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:tietz_syndrome_waardenburg_syndrome_type_2a_melanoma_cutaneous_malignant_susceptibility_to_8_coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness Tietz syndrome;Waardenburg syndrome type 2A;Melanoma, cutaneous malignant, susceptibility to, 8;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Supplemental_disease_name DISEASE_NAME:timm22_related_disorder TIMM22-related disorder Supplemental_disease_name DISEASE_NAME:timm50_related_disorder TIMM50-related disorder Supplemental_disease_name DISEASE_NAME:timmdc1_related_disorder TIMMDC1-related disorder Supplemental_disease_name DISEASE_NAME:timothy_syndrome_brugada_syndrome_3 Timothy syndrome;Brugada syndrome 3 Supplemental_disease_name DISEASE_NAME:timothy_syndrome_brugada_syndrome_3_long_qt_syndrome_8 Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8 Supplemental_disease_name DISEASE_NAME:timothy_syndrome_brugada_syndrome_3_long_qt_syndrome_8_neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures Timothy syndrome;Brugada syndrome 3;Long QT syndrome 8;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Supplemental_disease_name DISEASE_NAME:timothy_syndrome_long_qt_syndrome_8 Timothy syndrome;Long QT syndrome 8 Supplemental_disease_name DISEASE_NAME:timothy_syndrome_long_qt_syndrome_8_brugada_syndrome_3 Timothy syndrome;Long QT syndrome 8;Brugada syndrome 3 Supplemental_disease_name DISEASE_NAME:timothy_syndrome_long_qt_syndrome_8_neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures_brugada_syndrome_3 Timothy syndrome;Long QT syndrome 8;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Brugada syndrome 3 Supplemental_disease_name DISEASE_NAME:timothy_syndrome_neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures Timothy syndrome;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Supplemental_disease_name DISEASE_NAME:timothy_syndrome_neurodevelopmental_disorder_with_hypotonia_language_delay_and_skeletal_defects_with_or_without_seizures_brugada_syndrome_3_long_qt_syndrome_8 Timothy syndrome;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Brugada syndrome 3;Long QT syndrome 8 Supplemental_disease_name DISEASE_NAME:timothy_syndrome_short_qt_syndrome Timothy syndrome;Short QT syndrome Supplemental_disease_name DISEASE_NAME:timothy_syndrome_type_1 Timothy syndrome type 1 Supplemental_disease_name DISEASE_NAME:timp2_related_disorder TIMP2-related disorder Supplemental_disease_name DISEASE_NAME:timp3_related_disorder TIMP3-related disorder Supplemental_disease_name DISEASE_NAME:tinf2_related_disorder TINF2-related disorder Supplemental_disease_name DISEASE_NAME:tip_toe_gait Tip-toe gait Supplemental_disease_name DISEASE_NAME:tip_toe_gait_cerebellar_atrophy Tip-toe gait;Cerebellar atrophy Supplemental_disease_name DISEASE_NAME:tip_toe_gait_delayed_speech_and_language_development_pes_cavus_limited_range_of_motion_of_the_upper_ankle Tip-toe gait;Delayed speech and language development;Pes cavus;limited range of motion of the upper ankle Supplemental_disease_name DISEASE_NAME:tirap_related_disorder TIRAP-related disorder Supplemental_disease_name DISEASE_NAME:titinopathy Titinopathy Supplemental_disease_name DISEASE_NAME:tjp1_related_disorder TJP1-related disorder Supplemental_disease_name DISEASE_NAME:tjp2_related_disorder TJP2-related disorder Supplemental_disease_name DISEASE_NAME:tk2_related_disorder TK2-related disorder Supplemental_disease_name DISEASE_NAME:tkfc_deficiency_inborn_errors_of_metabolism TKFC deficiency;Inborn errors of metabolism Supplemental_disease_name DISEASE_NAME:tkfc_related_disorder TKFC-related disorder Supplemental_disease_name DISEASE_NAME:tkt_related_disorder TKT-related disorder Supplemental_disease_name DISEASE_NAME:tle3_related_condition TLE3-related condition Supplemental_disease_name DISEASE_NAME:tle6_related_disorder TLE6-related disorder Supplemental_disease_name DISEASE_NAME:tlk1_related_disorder TLK1-related disorder Supplemental_disease_name DISEASE_NAME:tlk1_related_neurodevelopmental_disorder TLK1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tlk2_related_disorder TLK2-related disorder Supplemental_disease_name DISEASE_NAME:tlk2_related_neurodevelopmental_disorder TLK2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tll1_related_disorder TLL1-related disorder Supplemental_disease_name DISEASE_NAME:tln1_related_disorder TLN1-related disorder Supplemental_disease_name DISEASE_NAME:tlr1_related_disorder TLR1-related disorder Supplemental_disease_name DISEASE_NAME:tlr2_related_disorder TLR2-related disorder Supplemental_disease_name DISEASE_NAME:tlr3_related_disorder TLR3-related disorder Supplemental_disease_name DISEASE_NAME:tlr4_polymorphism TLR4 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:tlr4_related_disorder TLR4-related disorder Supplemental_disease_name DISEASE_NAME:tlr5_related_disorder TLR5-related disorder Supplemental_disease_name DISEASE_NAME:tlr7_related_disorder TLR7-related disorder Supplemental_disease_name DISEASE_NAME:tlr8_related_condition TLR8-related condition Supplemental_disease_name DISEASE_NAME:tlx3_related_condition TLX3-related condition Supplemental_disease_name DISEASE_NAME:tm2d3_related_disorder TM2D3-related disorder Supplemental_disease_name DISEASE_NAME:tm4sf20_related_disorder TM4SF20-related disorder Supplemental_disease_name DISEASE_NAME:tm9sf4_related_disorder TM9SF4-related disorder Supplemental_disease_name DISEASE_NAME:tmc1_related_disorder TMC1-related disorder Supplemental_disease_name DISEASE_NAME:tmc4_related_disorder TMC4-related disorder Supplemental_disease_name DISEASE_NAME:tmc6_related_disorder TMC6-related disorder Supplemental_disease_name DISEASE_NAME:tmc8_related_disorder TMC8-related disorder Supplemental_disease_name DISEASE_NAME:tmco1_related_disorder TMCO1-related disorder Supplemental_disease_name DISEASE_NAME:tmed3_related_disorder TMED3-related disorder Supplemental_disease_name DISEASE_NAME:tmem106b_related_disorder TMEM106B-related disorder Supplemental_disease_name DISEASE_NAME:tmem107_related_disorder TMEM107-related disorder Supplemental_disease_name DISEASE_NAME:tmem114_related_disorder TMEM114-related disorder Supplemental_disease_name DISEASE_NAME:tmem120b_related_disorder TMEM120B-related disorder Supplemental_disease_name DISEASE_NAME:tmem126a_related_disorder TMEM126A-related disorder Supplemental_disease_name DISEASE_NAME:tmem126b_related_disorder TMEM126B-related disorder Supplemental_disease_name DISEASE_NAME:tmem127_related_disorder TMEM127-related disorder Supplemental_disease_name DISEASE_NAME:tmem127_related_tumor_predisposition TMEM127-related tumor predisposition Supplemental_disease_name DISEASE_NAME:tmem132d_related_disorder TMEM132D-related disorder Supplemental_disease_name DISEASE_NAME:tmem132e_related_disorder TMEM132E-related disorder Supplemental_disease_name DISEASE_NAME:tmem135_related_disorder TMEM135-related disorder Supplemental_disease_name DISEASE_NAME:tmem138_related_disorder TMEM138-related disorder Supplemental_disease_name DISEASE_NAME:tmem147_related_disorder TMEM147-related disorder Supplemental_disease_name DISEASE_NAME:tmem151a_related_disorder TMEM151A-related disorder Supplemental_disease_name DISEASE_NAME:tmem161b_related_lissencephaly TMEM161B-related lissencephaly Supplemental_disease_name DISEASE_NAME:tmem165_congenital_disorder_of_glycosylation TMEM165-congenital disorder of glycosylation Supplemental_disease_name DISEASE_NAME:tmem165_related_disorder TMEM165-related disorder Supplemental_disease_name DISEASE_NAME:tmem175_related_disorder TMEM175-related disorder Supplemental_disease_name DISEASE_NAME:tmem184b_associated_neurodevelopmental_disorder TMEM184B-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tmem199_related_disorder TMEM199-related disorder Supplemental_disease_name DISEASE_NAME:tmem208_related_condition TMEM208-related condition Supplemental_disease_name DISEASE_NAME:tmem216_related_disorder TMEM216-related disorder Supplemental_disease_name DISEASE_NAME:tmem222_related_disorder TMEM222-related disorder Supplemental_disease_name DISEASE_NAME:tmem230_related_disorder TMEM230-related disorder Supplemental_disease_name DISEASE_NAME:tmem231_related_disorder TMEM231-related disorder Supplemental_disease_name DISEASE_NAME:tmem237_related_disorder TMEM237-related disorder Supplemental_disease_name DISEASE_NAME:tmem240_related_disorder TMEM240-related disorder Supplemental_disease_name DISEASE_NAME:tmem260_related_disorder TMEM260-related disorder Supplemental_disease_name DISEASE_NAME:tmem26_related_condition TMEM26-related condition Supplemental_disease_name DISEASE_NAME:tmem38b_related_disorder TMEM38B-related disorder Supplemental_disease_name DISEASE_NAME:tmem43_related_disorder TMEM43-related disorder Supplemental_disease_name DISEASE_NAME:tmem53_related_craniotubular_dysplasia TMEM53-related craniotubular dysplasia Supplemental_disease_name DISEASE_NAME:tmem53_related_disorder TMEM53-related disorder Supplemental_disease_name DISEASE_NAME:tmem63a_related_disorder TMEM63A-related disorder Supplemental_disease_name DISEASE_NAME:tmem63b_associated_disorder TMEM63B-associated disorder Supplemental_disease_name DISEASE_NAME:tmem63b_related_condition TMEM63B-related condition Supplemental_disease_name DISEASE_NAME:tmem63b_related_neurodevelopmental_disorder TMEM63B-related Neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tmem65_related_disorder TMEM65-related disorder Supplemental_disease_name DISEASE_NAME:tmem67_related_disorder TMEM67-related disorder Supplemental_disease_name DISEASE_NAME:tmem70_related_disorder TMEM70-related disorder Supplemental_disease_name DISEASE_NAME:tmem94_related_disorder TMEM94-related disorder Supplemental_disease_name DISEASE_NAME:tmem98_related_disorder TMEM98-related disorder Supplemental_disease_name DISEASE_NAME:tmie_related_disorder TMIE-related disorder Supplemental_disease_name DISEASE_NAME:tmlhe_related_disorder TMLHE-related disorder Supplemental_disease_name DISEASE_NAME:tmpo_related_disorder TMPO-related disorder Supplemental_disease_name DISEASE_NAME:tmprss11e_related_disorder TMPRSS11E-related disorder Supplemental_disease_name DISEASE_NAME:tmprss15_related_disorder TMPRSS15-related disorder Supplemental_disease_name DISEASE_NAME:tmprss2_related_disorder TMPRSS2-related disorder Supplemental_disease_name DISEASE_NAME:tmprss3_related_disorder TMPRSS3-related disorder Supplemental_disease_name DISEASE_NAME:tmprss5_related_disorder TMPRSS5-related disorder Supplemental_disease_name DISEASE_NAME:tmprss6_related_disorder TMPRSS6-related disorder Supplemental_disease_name DISEASE_NAME:tmprss9_related_neurodevelopmental_disorder TMPRSS9-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tmtc2_related_disorder TMTC2-related disorder Supplemental_disease_name DISEASE_NAME:tmtc3_related_disorder TMTC3-related disorder Supplemental_disease_name DISEASE_NAME:tmx2_related_disorder TMX2-related disorder Supplemental_disease_name DISEASE_NAME:tmx3_related_disorder TMX3-related disorder Supplemental_disease_name DISEASE_NAME:tnc_related_disorder TNC-related disorder Supplemental_disease_name DISEASE_NAME:tnf_receptor_associated_periodic_fever_syndrome_traps TNF receptor-associated periodic fever syndrome (TRAPS) Supplemental_disease_name DISEASE_NAME:tnf_receptor_associated_periodic_fever_syndrome_traps_multiple_sclerosis_susceptibility_to_5 TNF receptor-associated periodic fever syndrome (TRAPS);Multiple sclerosis, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:tnf_receptor_binding_altered TNF receptor binding, altered Supplemental_disease_name DISEASE_NAME:tnfaip3_related_disorder TNFAIP3-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf10b_related_disorder TNFRSF10B-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf11a_related_disorder TNFRSF11A-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf11b_related_disorder TNFRSF11B-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf13b_related_disorder TNFRSF13B-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf13c_related_disorder TNFRSF13C-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf1a_related_disorder TNFRSF1A-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf21_related_condition TNFRSF21-related condition Supplemental_disease_name DISEASE_NAME:tnfrsf21_related_disorder TNFRSF21-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf25_related_disorder TNFRSF25-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf4_related_disorder TNFRSF4-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf6b_related_disorder TNFRSF6B-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf9_related_disorder TNFRSF9-related disorder Supplemental_disease_name DISEASE_NAME:tnfsf11_related_disorder TNFSF11-related disorder Supplemental_disease_name DISEASE_NAME:tnfsf12_related_disorder TNFSF12-related disorder Supplemental_disease_name DISEASE_NAME:tnik_related_disorder TNIK-related disorder Supplemental_disease_name DISEASE_NAME:tnk1_related_disorder TNK1-related disorder Supplemental_disease_name DISEASE_NAME:tnk2_associated_epilepsy_syndrome TNK2-associated Epilepsy syndrome Supplemental_disease_name DISEASE_NAME:tnk2_related_disorder TNK2-related disorder Supplemental_disease_name DISEASE_NAME:tnn_related_disorder TNN-related disorder Supplemental_disease_name DISEASE_NAME:tnnc1_related_disorder TNNC1-related disorder Supplemental_disease_name DISEASE_NAME:tnni1_related_congenital_myopathy TNNI1-related congenital myopathy Supplemental_disease_name DISEASE_NAME:tnni1_related_disorder TNNI1-related disorder Supplemental_disease_name DISEASE_NAME:tnni2_related_disorder TNNI2-related disorder Supplemental_disease_name DISEASE_NAME:tnni3_associated_disorder TNNI3-associated disorder Supplemental_disease_name DISEASE_NAME:tnni3_related_disorder TNNI3-related disorder Supplemental_disease_name DISEASE_NAME:tnni3k_related_disorder TNNI3K-related disorder Supplemental_disease_name DISEASE_NAME:tnnt1_related_disorder TNNT1-related disorder Supplemental_disease_name DISEASE_NAME:tnnt2_related_disorder TNNT2-related disorder Supplemental_disease_name DISEASE_NAME:tnnt3_related_disorder TNNT3-related disorder Supplemental_disease_name DISEASE_NAME:tnpo1_related_disorder TNPO1-related disorder Supplemental_disease_name DISEASE_NAME:tnpo2_related_disorder TNPO2-related disorder Supplemental_disease_name DISEASE_NAME:tnpo3_related_disorder TNPO3-related disorder Supplemental_disease_name DISEASE_NAME:tnr_related_disorder TNR-related disorder Supplemental_disease_name DISEASE_NAME:tnrc18_related_disorder TNRC18-related disorder Supplemental_disease_name DISEASE_NAME:tnrc6b_related_complex_neurodevelopmental_disorder TNRC6B-related complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tnrc6b_related_disorder TNRC6B-related disorder Supplemental_disease_name DISEASE_NAME:tnrc6b_related_neurodevelopmental_disorder TNRC6B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tns1_related_disorder TNS1-related disorder Supplemental_disease_name DISEASE_NAME:tns2_related_disorder TNS2-related disorder Supplemental_disease_name DISEASE_NAME:tnxb_related_disorder TNXB-related disorder Supplemental_disease_name DISEASE_NAME:tnxb_related_hypermobile_ehlers_danlos_syndrome TNXB-related hypermobile Ehlers-Danlos syndrome Supplemental_disease_name DISEASE_NAME:tobacco_addiction_susceptibility_to_autosomal_dominant_nocturnal_frontal_lobe_epilepsy_1 Tobacco addiction, susceptibility to;Autosomal dominant nocturnal frontal lobe epilepsy 1 Supplemental_disease_name DISEASE_NAME:tobacco_addiction_susceptibility_to_classic_dopamine_transporter_deficiency_syndrome Tobacco addiction, susceptibility to;Classic dopamine transporter deficiency syndrome Supplemental_disease_name DISEASE_NAME:tobacco_addiction_susceptibility_to_neurodevelopmental_disorder_with_poor_language_and_loss_of_hand_skills_developmental_and_epileptic_encephalopathy_59 Tobacco addiction, susceptibility to;Neurodevelopmental disorder with poor language and loss of hand skills;Developmental and epileptic encephalopathy, 59 Supplemental_disease_name DISEASE_NAME:tobramycin_response_toxicity tobramycin response - Toxicity Supplemental_disease_name DISEASE_NAME:toe1_related_disorder TOE1-related disorder Supplemental_disease_name DISEASE_NAME:tolbutamide_response Tolbutamide response Supplemental_disease_name DISEASE_NAME:tolchin_le_caignec_syndrome Tolchin-Le Caignec syndrome Supplemental_disease_name DISEASE_NAME:tomm40l_related_disorder TOMM40L-related disorder Supplemental_disease_name DISEASE_NAME:tomm70_related_neurodevelopmental_disorder TOMM70-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tomm7_related_early_onset_leigh_disease TOMM7-related early onset Leigh disease Supplemental_disease_name DISEASE_NAME:tonsillar_cancer Tonsillar cancer Supplemental_disease_name DISEASE_NAME:tonsl_related_disorder TONSL-related disorder Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_1 Tooth agenesis, selective, 1 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_10 Tooth agenesis, selective, 10 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_10_autosomal_recessive_nonsyndromic_hearing_loss_98_ectodermal_dysplasia_14_hair_tooth_type_with_or_without_hypohidrosis Tooth agenesis, selective, 10;Autosomal recessive nonsyndromic hearing loss 98;Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_10_ectodermal_dysplasia_14_hair_tooth_type_with_or_without_hypohidrosis_autosomal_recessive_nonsyndromic_hearing_loss_98 Tooth agenesis, selective, 10;Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis;Autosomal recessive nonsyndromic hearing loss 98 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_1_orofacial_cleft_5 Tooth agenesis, selective, 1;Orofacial cleft 5 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_2 Tooth agenesis, selective, 2 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_3 Tooth agenesis, selective, 3 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_4 Tooth agenesis, selective, 4 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_4_odonto_onycho_dermal_dysplasia Tooth agenesis, selective, 4;Odonto-onycho-dermal dysplasia Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_4_odonto_onycho_dermal_dysplasia_schöpf_schulz_passarge_syndrome Tooth agenesis, selective, 4;Odonto-onycho-dermal dysplasia;Schöpf-Schulz-Passarge syndrome Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_4_schöpf_schulz_passarge_syndrome Tooth agenesis, selective, 4;Schöpf-Schulz-Passarge syndrome Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_4_schöpf_schulz_passarge_syndrome_odonto_onycho_dermal_dysplasia Tooth agenesis, selective, 4;Schöpf-Schulz-Passarge syndrome;Odonto-onycho-dermal dysplasia Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_7 Tooth agenesis, selective, 7 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_7_coronary_artery_disease_autosomal_dominant_2 Tooth agenesis, selective, 7;Coronary artery disease, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_8 Tooth agenesis, selective, 8 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_9 Tooth agenesis, selective, 9 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_x_linked_1 Tooth agenesis, selective, X-linked, 1 Supplemental_disease_name DISEASE_NAME:tooth_agenesis_selective_x_linked_1_hypohidrotic_x_linked_ectodermal_dysplasia Tooth agenesis, selective, X-linked, 1;Hypohidrotic X-linked ectodermal dysplasia Supplemental_disease_name DISEASE_NAME:top1_related_disorder TOP1-related disorder Supplemental_disease_name DISEASE_NAME:top2_deficiency_type_1 TOP2 deficiency type 1 Supplemental_disease_name DISEASE_NAME:top2a_related_disorder TOP2A-related disorder Supplemental_disease_name DISEASE_NAME:top2b_related_disorder TOP2B-related disorder Supplemental_disease_name DISEASE_NAME:top2b_related_neurodevelopmental_disorder TOP2B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:top3a_related_disorder TOP3A-related disorder Supplemental_disease_name DISEASE_NAME:top3b_related_disorder TOP3B-related disorder Supplemental_disease_name DISEASE_NAME:top3b_related_neurodevelopmental_condition TOP3B-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:top6bl_related_disorder TOP6BL-related disorder Supplemental_disease_name DISEASE_NAME:topbp1_related_disorder TOPBP1-related disorder Supplemental_disease_name DISEASE_NAME:topors_related_disorder TOPORS-related disorder Supplemental_disease_name DISEASE_NAME:topors_related_retinopathy TOPORS-related retinopathy Supplemental_disease_name DISEASE_NAME:tor1a_related_disorder TOR1A-related disorder Supplemental_disease_name DISEASE_NAME:tor1aip1_related_disorder TOR1AIP1-related disorder Supplemental_disease_name DISEASE_NAME:torsades_de_pointes Torsades de pointes Supplemental_disease_name DISEASE_NAME:torsion_dystonia_4_hypomyelinating_leukodystrophy_6 Torsion dystonia 4;Hypomyelinating leukodystrophy 6 Supplemental_disease_name DISEASE_NAME:townes_brocks_branchiootorenal_like_syndrome Townes-Brocks-branchiootorenal-like syndrome Supplemental_disease_name DISEASE_NAME:townes_brocks_syndrome_1 Townes-Brocks syndrome 1 Supplemental_disease_name DISEASE_NAME:townes_brocks_syndrome_2 Townes-Brocks syndrome 2 Supplemental_disease_name DISEASE_NAME:townes_syndrome Townes syndrome Supplemental_disease_name DISEASE_NAME:toxic_epidermal_necrolysis Toxic epidermal necrolysis Supplemental_disease_name DISEASE_NAME:tp53_polymorphism TP53 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:tp53_related_disorder TP53-related disorder Supplemental_disease_name DISEASE_NAME:tp53bp1_related_disorder TP53BP1-related disorder Supplemental_disease_name DISEASE_NAME:tp53bp2_related_disorder TP53BP2-related disorder Supplemental_disease_name DISEASE_NAME:tp53i3_related_disorder TP53I3-related disorder Supplemental_disease_name DISEASE_NAME:tp53rk_related_disorder TP53RK-related disorder Supplemental_disease_name DISEASE_NAME:tp63_related_disorder TP63-related disorder Supplemental_disease_name DISEASE_NAME:tp63_related_ectodermal_dysplasia TP63-related ectodermal dysplasia Supplemental_disease_name DISEASE_NAME:tp63_related_ectodermal_dysplasia_spectrum_with_limb_and_orofacial_malformations TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations Supplemental_disease_name DISEASE_NAME:tp63_related_spectrum_disorder TP63-related spectrum disorder Supplemental_disease_name DISEASE_NAME:tp63_related_spectrum_disorders TP63-Related Spectrum Disorders Supplemental_disease_name DISEASE_NAME:tp73_related_disorder TP73-related disorder Supplemental_disease_name DISEASE_NAME:tpcn2_related_condition TPCN2-related condition Supplemental_disease_name DISEASE_NAME:tph1_related_disorder TPH1-related disorder Supplemental_disease_name DISEASE_NAME:tpi1_related_disorder TPI1-related disorder Supplemental_disease_name DISEASE_NAME:tpk1_related_disorder TPK1-related disorder Supplemental_disease_name DISEASE_NAME:tpm1_related_disorder TPM1-related disorder Supplemental_disease_name DISEASE_NAME:tpm2_related_cap_myopathy TPM2-related cap myopathy Supplemental_disease_name DISEASE_NAME:tpm2_related_disorder TPM2-related disorder Supplemental_disease_name DISEASE_NAME:tpm2_related_myopathy TPM2-related myopathy Supplemental_disease_name DISEASE_NAME:tpm3_related_core_myopathy TPM3-related core myopathy Supplemental_disease_name DISEASE_NAME:tpm3_related_disorder TPM3-related disorder Supplemental_disease_name DISEASE_NAME:tpm3_related_myopathy TPM3-related myopathy Supplemental_disease_name DISEASE_NAME:tpmt_related_disorder TPMT-related disorder Supplemental_disease_name DISEASE_NAME:tpo_related_disorder TPO-related disorder Supplemental_disease_name DISEASE_NAME:tpp1_related_disorder TPP1-related disorder Supplemental_disease_name DISEASE_NAME:tpp2_related_disorder TPP2-related disorder Supplemental_disease_name DISEASE_NAME:tprkb_related_disorder TPRKB-related disorder Supplemental_disease_name DISEASE_NAME:tprn_related_disorder TPRN-related disorder Supplemental_disease_name DISEASE_NAME:tra2b_associated_epileptic_encephalopathy TRA2B-associated epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:tra2b_related_condition TRA2B-related condition Supplemental_disease_name DISEASE_NAME:tra2b_related_disorder TRA2B-related disorder Supplemental_disease_name DISEASE_NAME:tradd_related_disorder TRADD-related disorder Supplemental_disease_name DISEASE_NAME:traf3_haploinsufficiency TRAF3 haploinsufficiency Supplemental_disease_name DISEASE_NAME:traf3_related_disorder TRAF3-related disorder Supplemental_disease_name DISEASE_NAME:traf3ip1_related_disorder TRAF3IP1-related disorder Supplemental_disease_name DISEASE_NAME:traf3ip2_related_disorder TRAF3IP2-related disorder Supplemental_disease_name DISEASE_NAME:traf6_related_disorder TRAF6-related disorder Supplemental_disease_name DISEASE_NAME:traf7_associated_heart_defect_digital_anomalies_facial_dysmorphism_motor_and_speech_delay_syndrome TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Supplemental_disease_name DISEASE_NAME:traf7_associated_heart_defect_digital_anomalies_facial_dysmorphism_motor_and_speech_delay_syndrome_autosomal_dominant_polycystic_kidney_disease_type_1_with_tuberous_sclerosis_familial_adenomatous_polyposis_3 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome;Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis;Familial adenomatous polyposis 3 Supplemental_disease_name DISEASE_NAME:traf7_related_disorder TRAF7-related disorder Supplemental_disease_name DISEASE_NAME:traf7_related_syndrome TRAF7-related syndrome Supplemental_disease_name DISEASE_NAME:traip_related_disorder TRAIP-related disorder Supplemental_disease_name DISEASE_NAME:trak1_related_disorder TRAK1-related disorder Supplemental_disease_name DISEASE_NAME:tramadol_response Tramadol response Supplemental_disease_name DISEASE_NAME:transcobalamin_i_deficiency Transcobalamin I deficiency Supplemental_disease_name DISEASE_NAME:transcription_level_of_plasminogen_activator_inhibitor_1 Transcription level of plasminogen activator inhibitor 1 Supplemental_disease_name DISEASE_NAME:transferrin_variant_b2 Transferrin variant B2 Supplemental_disease_name DISEASE_NAME:transferrin_variant_bv Transferrin variant Bv Supplemental_disease_name DISEASE_NAME:transferrin_variant_d1 Transferrin variant D1 Supplemental_disease_name DISEASE_NAME:transferrin_variant_d_chi Transferrin variant D(Chi) Supplemental_disease_name DISEASE_NAME:transient_infantile_hypertriglyceridemia_and_hepatosteatosis Transient infantile hypertriglyceridemia and hepatosteatosis Supplemental_disease_name DISEASE_NAME:transient_myeloproliferative_disorder_of_down_syndrome TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME Supplemental_disease_name DISEASE_NAME:transient_myeloproliferative_syndrome_thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia_hemolytic_anemia_due_to_erythrocyte_adenosine_deaminase_overproduction_x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia_beta_thalassemia_x_linked_thrombocytopenia_syndrome Transient myeloproliferative syndrome;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;Hemolytic anemia due to erythrocyte adenosine deaminase overproduction;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia;Beta-thalassemia-X-linked thrombocytopenia syndrome Supplemental_disease_name DISEASE_NAME:transient_neonatal_diabetes_dominant_recessive Transient Neonatal Diabetes, Dominant/Recessive Supplemental_disease_name DISEASE_NAME:transient_neonatal_diabetes_recessive Transient Neonatal Diabetes, Recessive Supplemental_disease_name DISEASE_NAME:transitory_neonatal_diabetes_mellitus Transitory neonatal diabetes mellitus Supplemental_disease_name DISEASE_NAME:transketolase_deficiency Transketolase deficiency Supplemental_disease_name DISEASE_NAME:transposition_of_the_great_arteries Transposition of the great arteries Supplemental_disease_name DISEASE_NAME:transverse_facial_cleft_abnormality_of_the_kidney Transverse facial cleft;Abnormality of the kidney Supplemental_disease_name DISEASE_NAME:transverse_facial_cleft_isolated_pierre_robin_syndrome Transverse facial cleft;Isolated Pierre-Robin syndrome Supplemental_disease_name DISEASE_NAME:trap1_related_disorder TRAP1-related disorder Supplemental_disease_name DISEASE_NAME:trapp_associated_developmental_delay_developmental_delay_with_or_without_dysmorphic_facies_and_autism TRAPP-associated developmental delay;Developmental delay with or without dysmorphic facies and autism Supplemental_disease_name DISEASE_NAME:trappc10_related_disorder TRAPPC10-related disorder Supplemental_disease_name DISEASE_NAME:trappc11_related_disorder TRAPPC11-related disorder Supplemental_disease_name DISEASE_NAME:trappc12_related_disorder TRAPPC12-related disorder Supplemental_disease_name DISEASE_NAME:trappc14_related_disorder TRAPPC14-related disorder Supplemental_disease_name DISEASE_NAME:trappc2_related_disorder TRAPPC2-related disorder Supplemental_disease_name DISEASE_NAME:trappc2l_related_disorder TRAPPC2L-related disorder Supplemental_disease_name DISEASE_NAME:trappc4_related_disorder TRAPPC4-related disorder Supplemental_disease_name DISEASE_NAME:trappc6a_related_disorder TRAPPC6A-related disorder Supplemental_disease_name DISEASE_NAME:trappc6b_related_disorder TRAPPC6B-related disorder Supplemental_disease_name DISEASE_NAME:trappc6b_related_neurodevelopmental_disorder TRAPPC6B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:trappc9_related_disorder TRAPPC9-related disorder Supplemental_disease_name DISEASE_NAME:trappopathy_microcephalic TRAPPopathy microcephalic Supplemental_disease_name DISEASE_NAME:trdn_related_disorder TRDN-related disorder Supplemental_disease_name DISEASE_NAME:treacher_collins_syndrome_3_hypomyelinating_leukodystrophy_11 Treacher Collins syndrome 3;Hypomyelinating leukodystrophy 11 Supplemental_disease_name DISEASE_NAME:treh_related_disorder TREH-related disorder Supplemental_disease_name DISEASE_NAME:trem2_related_disorder TREM2-related disorder Supplemental_disease_name DISEASE_NAME:tremor Tremor Supplemental_disease_name DISEASE_NAME:tremor_delayed_speech_and_language_development_microcephaly_intellectual_disability Tremor;Delayed speech and language development;Microcephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:tremor_hereditary_essential_1 Tremor, hereditary essential, 1 Supplemental_disease_name DISEASE_NAME:tremor_hereditary_essential_4 Tremor, hereditary essential, 4 Supplemental_disease_name DISEASE_NAME:tremor_hereditary_essential_4_amyotrophic_lateral_sclerosis_type_6 Tremor, hereditary essential, 4;Amyotrophic lateral sclerosis type 6 Supplemental_disease_name DISEASE_NAME:tremor_hereditary_essential_5 Tremor, hereditary essential, 5 Supplemental_disease_name DISEASE_NAME:tremor_hereditary_essential_6 Tremor, hereditary essential, 6 Supplemental_disease_name DISEASE_NAME:tretinoin_response Tretinoin response Supplemental_disease_name DISEASE_NAME:trex1_related_disorder TREX1-related disorder Supplemental_disease_name DISEASE_NAME:trh_related_disorder TRH-related disorder Supplemental_disease_name DISEASE_NAME:trhr_related_disorder TRHR-related disorder Supplemental_disease_name DISEASE_NAME:tricho_dento_osseous_syndrome_hypomaturation_hypoplastic_amelogenesis_imperfecta_with_taurodontism Tricho-dento-osseous syndrome;Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Supplemental_disease_name DISEASE_NAME:tricho_dento_osseous_syndrome_osteogenesis_imperfecta_type_i Tricho-dento-osseous syndrome;Osteogenesis imperfecta type I Supplemental_disease_name DISEASE_NAME:tricho_oculo_dermo_vertebral_syndrome Tricho-oculo-dermo-vertebral syndrome Supplemental_disease_name DISEASE_NAME:tricho_rhino_phalangeal_syndrome Tricho-rhino-phalangeal syndrome Supplemental_disease_name DISEASE_NAME:trichoepithelioma_multiple_familial_1 Trichoepithelioma, multiple familial, 1 Supplemental_disease_name DISEASE_NAME:trichohepatoneurodevelopmental_syndrome Trichohepatoneurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:trichomegaly Trichomegaly Supplemental_disease_name DISEASE_NAME:trichomegaly_retina_pigmentary_degeneration_dwarfism_syndrome_hereditary_spastic_paraplegia_39_ataxia_hypogonadism_choroidal_dystrophy_syndrome_laurence_moon_syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome;Hereditary spastic paraplegia 39;Ataxia-hypogonadism-choroidal dystrophy syndrome;Laurence-Moon syndrome Supplemental_disease_name DISEASE_NAME:trichorhinophalangeal_dysplasia_type_i_trichorhinophalangeal_syndrome_type_iii Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III Supplemental_disease_name DISEASE_NAME:trichorhinophalangeal_syndrome Trichorhinophalangeal syndrome Supplemental_disease_name DISEASE_NAME:trichorhinophalangeal_syndrome_type_1_and_3 Trichorhinophalangeal syndrome type 1 and 3 Supplemental_disease_name DISEASE_NAME:trichorhinophalangeal_syndrome_type_iii_trichorhinophalangeal_dysplasia_type_i Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_1_photosensitive Trichothiodystrophy 1, photosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_1_photosensitive_cerebrooculofacioskeletal_syndrome_2_xeroderma_pigmentosum_group_d Trichothiodystrophy 1, photosensitive;Cerebrooculofacioskeletal syndrome 2;Xeroderma pigmentosum, group D Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_1_photosensitive_xeroderma_pigmentosum_group_d Trichothiodystrophy 1, photosensitive;Xeroderma pigmentosum, group D Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_1_photosensitive_xeroderma_pigmentosum_group_d_cerebrooculofacioskeletal_syndrome_2 Trichothiodystrophy 1, photosensitive;Xeroderma pigmentosum, group D;Cerebrooculofacioskeletal syndrome 2 Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_2_photosensitive Trichothiodystrophy 2, photosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_2_photosensitive_xeroderma_pigmentosum_group_b Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_3_photosensitive Trichothiodystrophy 3, photosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_4_nonphotosensitive Trichothiodystrophy 4, nonphotosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_5_nonphotosensitive Trichothiodystrophy 5, nonphotosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_6_nonphotosensitive Trichothiodystrophy 6, nonphotosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_7_nonphotosensitive Trichothiodystrophy 7, nonphotosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_8_nonphotosensitive Trichothiodystrophy 8, nonphotosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_8_nonphotosensitive_leukoencephalopathy_hereditary_diffuse_with_spheroids_2_charcot_marie_tooth_disease_axonal_type_2n_developmental_and_epileptic_encephalopathy_29 Trichothiodystrophy 8, nonphotosensitive;Leukoencephalopathy, hereditary diffuse, with spheroids 2;Charcot-Marie-Tooth disease axonal type 2N;Developmental and epileptic encephalopathy, 29 Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_9_nonphotosensitive Trichothiodystrophy 9, nonphotosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_9_nonphotosensitive_severe_early_onset_pulmonary_alveolar_proteinosis_due_to_mars_deficiency_autosomal_recessive_spastic_paraplegia_type_70 Trichothiodystrophy 9, nonphotosensitive;Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency;Autosomal recessive spastic paraplegia type 70 Supplemental_disease_name DISEASE_NAME:trichotillomania_tourette_syndrome Trichotillomania;Tourette syndrome Supplemental_disease_name DISEASE_NAME:tricuspid_atresia_ventricular_septal_defect Tricuspid atresia;Ventricular septal defect Supplemental_disease_name DISEASE_NAME:trifascicular_block_on_electrocardiogram Trifascicular block on electrocardiogram Supplemental_disease_name DISEASE_NAME:triglyceride_storage_disease_with_ichthyosis Triglyceride storage disease with ichthyosis Supplemental_disease_name DISEASE_NAME:trigonocephaly Trigonocephaly Supplemental_disease_name DISEASE_NAME:trigonocephaly_1 Trigonocephaly 1 Supplemental_disease_name DISEASE_NAME:trigonocephaly_2 Trigonocephaly 2 Supplemental_disease_name DISEASE_NAME:trigonocephaly_2_bnar_syndrome_oculotrichoanal_syndrome Trigonocephaly 2;BNAR syndrome;Oculotrichoanal syndrome Supplemental_disease_name DISEASE_NAME:trigonocephaly_2_oculotrichoanal_syndrome_bnar_syndrome Trigonocephaly 2;Oculotrichoanal syndrome;BNAR syndrome Supplemental_disease_name DISEASE_NAME:trigonocephaly_short_stature_developmental_delay_syndrome Trigonocephaly-short stature-developmental delay syndrome Supplemental_disease_name DISEASE_NAME:trigonocephaly_short_stature_developmental_delay_syndrome_intellectual_disability_x_linked_syndromic_turner_type Trigonocephaly-short stature-developmental delay syndrome;Intellectual disability, X-linked syndromic, Turner type Supplemental_disease_name DISEASE_NAME:trim22_related_disorder TRIM22-related disorder Supplemental_disease_name DISEASE_NAME:trim23_related_disorder TRIM23-related disorder Supplemental_disease_name DISEASE_NAME:trim24_related_disorder TRIM24-related disorder Supplemental_disease_name DISEASE_NAME:trim28_related_disorder TRIM28-related disorder Supplemental_disease_name DISEASE_NAME:trim2_related_disorder TRIM2-related disorder Supplemental_disease_name DISEASE_NAME:trim32_related_disorder TRIM32-related disorder Supplemental_disease_name DISEASE_NAME:trim36_related_disorder TRIM36-related disorder Supplemental_disease_name DISEASE_NAME:trim37_related_disorder TRIM37-related disorder Supplemental_disease_name DISEASE_NAME:trim3_related_disorder TRIM3-related disorder Supplemental_disease_name DISEASE_NAME:trim44_related_disorder TRIM44-related disorder Supplemental_disease_name DISEASE_NAME:trim54_related_disorder TRIM54-related disorder Supplemental_disease_name DISEASE_NAME:trim55_related_disorder TRIM55-related disorder Supplemental_disease_name DISEASE_NAME:trim63_related_disorder TRIM63-related disorder Supplemental_disease_name DISEASE_NAME:trim71_related_disorder TRIM71-related disorder Supplemental_disease_name DISEASE_NAME:trim8_related_disorder TRIM8-related disorder Supplemental_disease_name DISEASE_NAME:trim8_related_epileptic_encephalopathy TRIM8-related epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:trio_related_disorder TRIO-related disorder Supplemental_disease_name DISEASE_NAME:triobp_related_disorder TRIOBP-related disorder Supplemental_disease_name DISEASE_NAME:triobp_related_hearing_loss TRIOBP-related hearing loss Supplemental_disease_name DISEASE_NAME:triokinase_and_fmn_cyclase_deficiency_syndrome Triokinase and FMN cyclase deficiency syndrome Supplemental_disease_name DISEASE_NAME:triosephosphate_isomerase_manchester TRIOSEPHOSPHATE ISOMERASE MANCHESTER Supplemental_disease_name DISEASE_NAME:trip11_related_disorder TRIP11-related disorder Supplemental_disease_name DISEASE_NAME:trip11_related_skeletal_dysplasia TRIP11-related skeletal dysplasia Supplemental_disease_name DISEASE_NAME:trip12_associated_autism_with_facial_dysmorphology TRIP12 associated autism with facial dysmorphology Supplemental_disease_name DISEASE_NAME:trip12_related_disorder TRIP12-related disorder Supplemental_disease_name DISEASE_NAME:trip13_related_disorder TRIP13-related disorder Supplemental_disease_name DISEASE_NAME:trip4_related_disorder TRIP4-related disorder Supplemental_disease_name DISEASE_NAME:triphalangeal_thumb Triphalangeal thumb Supplemental_disease_name DISEASE_NAME:triphalangeal_thumb_polysyndactyly_syndrome Triphalangeal thumb-polysyndactyly syndrome Supplemental_disease_name DISEASE_NAME:triphalangeal_thumb_polysyndactyly_syndrome_laurin_sandrow_syndrome_syndactyly_type_4_acheiropodia Triphalangeal thumb-polysyndactyly syndrome;Laurin-Sandrow syndrome;Syndactyly type 4;Acheiropodia Supplemental_disease_name DISEASE_NAME:triple_negative_breast_cancer_finding Triple-Negative Breast Cancer Finding Supplemental_disease_name DISEASE_NAME:triple_negative_breast_carcinoma Triple-negative breast carcinoma Supplemental_disease_name DISEASE_NAME:trisomy_12p Trisomy 12p Supplemental_disease_name DISEASE_NAME:trisomy_x_syndrome Trisomy X syndrome Supplemental_disease_name DISEASE_NAME:trit1_deficiency TRIT1 Deficiency Supplemental_disease_name DISEASE_NAME:trit1_related_disorder TRIT1-related disorder Supplemental_disease_name DISEASE_NAME:trmt10a_related_disorder TRMT10A-related disorder Supplemental_disease_name DISEASE_NAME:trmt10c_related_disorder TRMT10C-related disorder Supplemental_disease_name DISEASE_NAME:trmt1_related_disorder TRMT1-related disorder Supplemental_disease_name DISEASE_NAME:trmt5_related_disorder TRMT5-related disorder Supplemental_disease_name DISEASE_NAME:trmu_related_disorder TRMU-related disorder Supplemental_disease_name DISEASE_NAME:trnt1_related_disorder TRNT1-related disorder Supplemental_disease_name DISEASE_NAME:tropical_pancreatitis Tropical pancreatitis Supplemental_disease_name DISEASE_NAME:tropical_pancreatitis_hereditary_pancreatitis Tropical pancreatitis;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:trpa1_related_disorder TRPA1-related disorder Supplemental_disease_name DISEASE_NAME:trpc3_related_disorder TRPC3-related disorder Supplemental_disease_name DISEASE_NAME:trpc5_related_disorder TRPC5-related disorder Supplemental_disease_name DISEASE_NAME:trpc6_related_disorder TRPC6-related disorder Supplemental_disease_name DISEASE_NAME:trpm1_related_disorder TRPM1-related disorder Supplemental_disease_name DISEASE_NAME:trpm3_associated_epilepsy_syndrome TRPM3-associated epilepsy syndrome Supplemental_disease_name DISEASE_NAME:trpm3_related_disorder TRPM3-related disorder Supplemental_disease_name DISEASE_NAME:trpm3_related_intellectual_disability_and_epilepsy TRPM3-related Intellectual Disability and Epilepsy Supplemental_disease_name DISEASE_NAME:trpm3_related_neruodevelopmental_disorder TRPM3 related neruodevelopmental disorder Supplemental_disease_name DISEASE_NAME:trpm4_related_disorder TRPM4-related disorder Supplemental_disease_name DISEASE_NAME:trpm6_related_disorder TRPM6-related disorder Supplemental_disease_name DISEASE_NAME:trpm7_associated_neuropathological_disorder TRPM7-associated neuropathological disorder Supplemental_disease_name DISEASE_NAME:trpm7_related_disorder TRPM7-related disorder Supplemental_disease_name DISEASE_NAME:trps1_related_disorder TRPS1-related disorder Supplemental_disease_name DISEASE_NAME:trpv3_related_disorder TRPV3-related disorder Supplemental_disease_name DISEASE_NAME:trpv4_associated_disorders TRPV4-Associated Disorders Supplemental_disease_name DISEASE_NAME:trpv4_associated_skeletal_dysplasias TRPV4-associated skeletal dysplasias Supplemental_disease_name DISEASE_NAME:trpv4_related_bone_disorder TRPV4-related bone disorder Supplemental_disease_name DISEASE_NAME:trpv4_related_disorder TRPV4-related disorder Supplemental_disease_name DISEASE_NAME:trpv4_related_hereditary_motor_and_sensory_neuropathy TRPV4-Related Hereditary Motor And Sensory Neuropathy Supplemental_disease_name DISEASE_NAME:trpv5_related_disorder TRPV5-related disorder Supplemental_disease_name DISEASE_NAME:trpv6_related_disorder TRPV6-related disorder Supplemental_disease_name DISEASE_NAME:trrap_related_disorder TRRAP-related disorder Supplemental_disease_name DISEASE_NAME:trrap_related_neurodevelopmental_disorder TRRAP-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:trypsinogen_deficiency_hereditary_pancreatitis Trypsinogen deficiency;Hereditary pancreatitis Supplemental_disease_name DISEASE_NAME:tryptophan_5_monooxygenase_deficiency Tryptophan 5-monooxygenase deficiency Supplemental_disease_name DISEASE_NAME:tsc1_related_disorder TSC1-related disorder Supplemental_disease_name DISEASE_NAME:tsc2_angiomyolipomas_renal_modifier_of Tsc2 angiomyolipomas, renal, modifier of Supplemental_disease_name DISEASE_NAME:tsc2_related_disorder TSC2-related disorder Supplemental_disease_name DISEASE_NAME:tsen15_related_disorder TSEN15-related disorder Supplemental_disease_name DISEASE_NAME:tsen2_related_disorder TSEN2-related disorder Supplemental_disease_name DISEASE_NAME:tsen34_related_disorder TSEN34-related disorder Supplemental_disease_name DISEASE_NAME:tsen54_pontocerebellar_hypoplasia TSEN54 Pontocerebellar Hypoplasia Supplemental_disease_name DISEASE_NAME:tsen54_related_disorder TSEN54-related disorder Supplemental_disease_name DISEASE_NAME:tsfm_related_disorder TSFM-related disorder Supplemental_disease_name DISEASE_NAME:tsga10_related_disorder TSGA10-related disorder Supplemental_disease_name DISEASE_NAME:tshb_related_disorder TSHB-related disorder Supplemental_disease_name DISEASE_NAME:tshr_related_disorder TSHR-related disorder Supplemental_disease_name DISEASE_NAME:tshz1_related_disorder TSHZ1-related disorder Supplemental_disease_name DISEASE_NAME:tshz3_related_disorder TSHZ3-related disorder Supplemental_disease_name DISEASE_NAME:tsix_related_disorder TSIX-related disorder Supplemental_disease_name DISEASE_NAME:tspan12_related_disorder TSPAN12-related disorder Supplemental_disease_name DISEASE_NAME:tspan18_related_disorder TSPAN18-related disorder Supplemental_disease_name DISEASE_NAME:tspan7_related_disorder TSPAN7-related disorder Supplemental_disease_name DISEASE_NAME:tspear_related_disorder TSPEAR-related disorder Supplemental_disease_name DISEASE_NAME:tspear_related_disorder_of_tooth_and_hair_follicle_morphogenesis TSPEAR-related disorder of tooth and hair follicle morphogenesis Supplemental_disease_name DISEASE_NAME:tspoap1_related_disorder TSPOAP1-related disorder Supplemental_disease_name DISEASE_NAME:tspoap1_related_dystonia TSPOAP1-related Dystonia Supplemental_disease_name DISEASE_NAME:tspyl1_related_disorder TSPYL1-related disorder Supplemental_disease_name DISEASE_NAME:tsr1_related_disorder TSR1-related disorder Supplemental_disease_name DISEASE_NAME:tsr2_related_disorder TSR2-related disorder Supplemental_disease_name DISEASE_NAME:ttbk2_related_disorder TTBK2-related disorder Supplemental_disease_name DISEASE_NAME:ttc12_related_disorder TTC12-related disorder Supplemental_disease_name DISEASE_NAME:ttc14_related_disorder TTC14-related disorder Supplemental_disease_name DISEASE_NAME:ttc19_related_disorder TTC19-related disorder Supplemental_disease_name DISEASE_NAME:ttc21a_related_disorder TTC21A-related disorder Supplemental_disease_name DISEASE_NAME:ttc21b_related_disorder TTC21B-related disorder Supplemental_disease_name DISEASE_NAME:ttc28_related_disorder TTC28-related disorder Supplemental_disease_name DISEASE_NAME:ttc29_related_condition TTC29-related condition Supplemental_disease_name DISEASE_NAME:ttc5_related_disorder TTC5-related disorder Supplemental_disease_name DISEASE_NAME:ttc7a_related_disorder TTC7A-related disorder Supplemental_disease_name DISEASE_NAME:ttc8_related_disorder TTC8-related disorder Supplemental_disease_name DISEASE_NAME:tti2_related_disorder TTI2-related disorder Supplemental_disease_name DISEASE_NAME:ttll5_related_disorder TTLL5-related disorder Supplemental_disease_name DISEASE_NAME:ttn_related_cardiomyopathy TTN-related cardiomyopathy Supplemental_disease_name DISEASE_NAME:ttn_related_disorder TTN-related disorder Supplemental_disease_name DISEASE_NAME:ttn_related_myopathy TTN-related myopathy Supplemental_disease_name DISEASE_NAME:ttn_related_myopathy_dilated_cardiomyopathy_1g TTN-related myopathy;Dilated cardiomyopathy 1G Supplemental_disease_name DISEASE_NAME:ttpa_related_disorder TTPA-related disorder Supplemental_disease_name DISEASE_NAME:ttr_polymorphism TTR POLYMORPHISM Supplemental_disease_name DISEASE_NAME:ttr_related_disorder TTR-related disorder Supplemental_disease_name DISEASE_NAME:tub_related_disorder TUB-related disorder Supplemental_disease_name DISEASE_NAME:tuba1a_associated_tubulinopathy TUBA1A-associated tubulinopathy Supplemental_disease_name DISEASE_NAME:tuba1a_related_disorder TUBA1A-related disorder Supplemental_disease_name DISEASE_NAME:tuba1b_associated_neurodevelopmental_disorder TUBA1B-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:tuba4a_related_disorder TUBA4A-related disorder Supplemental_disease_name DISEASE_NAME:tuba8_related_disorder TUBA8-related disorder Supplemental_disease_name DISEASE_NAME:tubb1_related_disorder TUBB1-related disorder Supplemental_disease_name DISEASE_NAME:tubb2a_related_disorder TUBB2A-related disorder Supplemental_disease_name DISEASE_NAME:tubb2a_related_tubulinopathy TUBB2A-related tubulinopathy Supplemental_disease_name DISEASE_NAME:tubb2b_related_disorder TUBB2B-related disorder Supplemental_disease_name DISEASE_NAME:tubb2b_related_tubulinopathy TUBB2B-related tubulinopathy Supplemental_disease_name DISEASE_NAME:tubb3_related_disorder TUBB3-related disorder Supplemental_disease_name DISEASE_NAME:tubb3_related_tubulinopathy TUBB3-related tubulinopathy Supplemental_disease_name DISEASE_NAME:tubb3_releated_disorders TUBB3-Releated Disorders Supplemental_disease_name DISEASE_NAME:tubb4a_related_disorder TUBB4A-related disorder Supplemental_disease_name DISEASE_NAME:tubb4a_related_hypomyelinating_leukodystrophy_and_or_torsion_dystonia TUBB4A-related hypomyelinating leukodystrophy and/or torsion dystonia Supplemental_disease_name DISEASE_NAME:tubb4a_related_neurologic_disorder TUBB4A-related neurologic disorder Supplemental_disease_name DISEASE_NAME:tubb4b_related_disorder TUBB4B-related disorder Supplemental_disease_name DISEASE_NAME:tubb6_related_disorder TUBB6-related disorder Supplemental_disease_name DISEASE_NAME:tubb_related_disorder TUBB-related disorder Supplemental_disease_name DISEASE_NAME:tubb_related_tubulinopathy TUBB-related tubulinopathy Supplemental_disease_name DISEASE_NAME:tuberculosis_susceptibility_to Tuberculosis, susceptibility to Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_1_isolated_focal_cortical_dysplasia_type_ii_lymphangiomyomatosis Tuberous sclerosis 1;Isolated focal cortical dysplasia type II;Lymphangiomyomatosis Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_1_lymphangiomyomatosis_isolated_focal_cortical_dysplasia_type_ii Tuberous sclerosis 1;Lymphangiomyomatosis;Isolated focal cortical dysplasia type II Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_2_aplastic_anemia_immunodeficiency_69 Tuberous sclerosis 2;Aplastic anemia;Immunodeficiency 69 Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_2_isolated_focal_cortical_dysplasia_type_ii Tuberous sclerosis 2;Isolated focal cortical dysplasia type II Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_2_isolated_focal_cortical_dysplasia_type_ii_lymphangiomyomatosis Tuberous sclerosis 2;Isolated focal cortical dysplasia type II;Lymphangiomyomatosis Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_2_lymphangiomyomatosis_isolated_focal_cortical_dysplasia_type_ii Tuberous sclerosis 2;Lymphangiomyomatosis;Isolated focal cortical dysplasia type II Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_2_tuberous_sclerosis_syndrome Tuberous sclerosis 2;Tuberous sclerosis syndrome Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_and_lymphangiomyomatosis Tuberous sclerosis and lymphangiomyomatosis Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_syndrome_lung_lymphangioleiomyomatosis Tuberous sclerosis syndrome;Lung lymphangioleiomyomatosis Supplemental_disease_name DISEASE_NAME:tuberous_sclerosis_syndrome_lymphangiomyomatosis Tuberous sclerosis syndrome;Lymphangiomyomatosis Supplemental_disease_name DISEASE_NAME:tubg1_related_disorder TUBG1-related disorder Supplemental_disease_name DISEASE_NAME:tubgcp2_related_disorder TUBGCP2-related disorder Supplemental_disease_name DISEASE_NAME:tubgcp4_related_disorder TUBGCP4-related disorder Supplemental_disease_name DISEASE_NAME:tubgcp6_related_disorder TUBGCP6-related disorder Supplemental_disease_name DISEASE_NAME:tubulinopathies Tubulinopathies Supplemental_disease_name DISEASE_NAME:tubulinopathy_associated_dysgyria Tubulinopathy-associated dysgyria Supplemental_disease_name DISEASE_NAME:tubulinopathy_associated_dysgyria_early_myoclonic_encephalopathy_continuous_spike_and_waves_during_slow_sleep Tubulinopathy-associated dysgyria;Early Myoclonic Encephalopathy;Continuous spike and waves during slow sleep Supplemental_disease_name DISEASE_NAME:tubulinopathy_associated_dysgyria_west_syndrome Tubulinopathy-associated dysgyria;West syndrome Supplemental_disease_name DISEASE_NAME:tubulointerstitial_kidney_disease Tubulointerstitial kidney disease Supplemental_disease_name DISEASE_NAME:tubulointerstitial_kidney_disease_autosomal_dominant_2 Tubulointerstitial kidney disease, autosomal dominant, 2 Supplemental_disease_name DISEASE_NAME:tubulointerstitial_kidney_disease_autosomal_dominant_6 Tubulointerstitial kidney disease, autosomal dominant 6 Supplemental_disease_name DISEASE_NAME:tufm_related_disorder TUFM-related disorder Supplemental_disease_name DISEASE_NAME:tufted_angioma_of_skin Tufted angioma of skin Supplemental_disease_name DISEASE_NAME:tulp1_related_disorder TULP1-related disorder Supplemental_disease_name DISEASE_NAME:tumor_predisposition_syndrome_2 Tumor predisposition syndrome 2 Supplemental_disease_name DISEASE_NAME:tumor_predisposition_syndrome_2_melanoma_uveal_susceptibility_to_1 Tumor predisposition syndrome 2;Melanoma, uveal, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:tumor_predisposition_syndrome_3 Tumor predisposition syndrome 3 Supplemental_disease_name DISEASE_NAME:tumor_predisposition_syndrome_3_cerebroretinal_microangiopathy_with_calcifications_and_cysts_3_pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8 Tumor predisposition syndrome 3;Cerebroretinal microangiopathy with calcifications and cysts 3;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 Supplemental_disease_name DISEASE_NAME:tumor_predisposition_syndrome_3_pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8_cerebroretinal_microangiopathy_with_calcifications_and_cysts_3 Tumor predisposition syndrome 3;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8;Cerebroretinal microangiopathy with calcifications and cysts 3 Supplemental_disease_name DISEASE_NAME:tumor_predisposition_syndrome_4_breast TUMOR PREDISPOSITION SYNDROME 4, BREAST Supplemental_disease_name DISEASE_NAME:tumor_predisposition_syndrome_4_breast_prostate TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE Supplemental_disease_name DISEASE_NAME:tumor_predisposition_syndrome_4_breast_prostate_colorectal TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL Supplemental_disease_name DISEASE_NAME:tumoral_calcinosis_hyperphosphatemic_familial_1 Tumoral calcinosis, hyperphosphatemic, familial, 1 Supplemental_disease_name DISEASE_NAME:tumoral_calcinosis_hyperphosphatemic_familial_2 Tumoral calcinosis, hyperphosphatemic, familial, 2 Supplemental_disease_name DISEASE_NAME:tumoral_calcinosis_hyperphosphatemic_familial_2_autosomal_dominant_hypophosphatemic_rickets Tumoral calcinosis, hyperphosphatemic, familial, 2;Autosomal dominant hypophosphatemic rickets Supplemental_disease_name DISEASE_NAME:tumoral_calcinosis_hyperphosphatemic_familial_3 Tumoral calcinosis, hyperphosphatemic, familial, 3 Supplemental_disease_name DISEASE_NAME:turcot_syndrome_with_polyposis Turcot syndrome with polyposis Supplemental_disease_name DISEASE_NAME:turcot_syndrome_with_polyposis_gardner_syndrome Turcot syndrome with polyposis;Gardner syndrome Supplemental_disease_name DISEASE_NAME:turnpenny_fry_syndrome Turnpenny-fry syndrome Supplemental_disease_name DISEASE_NAME:turricephaly_intellectual_disability Turricephaly;Intellectual disability Supplemental_disease_name DISEASE_NAME:tusc3_related_disorder TUSC3-related disorder Supplemental_disease_name DISEASE_NAME:twist1_related_craniofacial_disorders TWIST1-related craniofacial disorders Supplemental_disease_name DISEASE_NAME:twist1_related_craniosynostosis TWIST1-related craniosynostosis Supplemental_disease_name DISEASE_NAME:twist1_related_craniosynostosis_saethre_chotzen_syndrome TWIST1-related craniosynostosis;Saethre-Chotzen syndrome Supplemental_disease_name DISEASE_NAME:twist1_related_craniosynostosis_saethre_chotzen_syndrome_sweeney_cox_syndrome_robinow_sorauf_syndrome TWIST1-related craniosynostosis;Saethre-Chotzen syndrome;Sweeney-Cox syndrome;Robinow-Sorauf syndrome Supplemental_disease_name DISEASE_NAME:twist1_related_disorder TWIST1-related disorder Supplemental_disease_name DISEASE_NAME:twist2_related_disorder TWIST2-related disorder Supplemental_disease_name DISEASE_NAME:twnk_related_disorder TWNK-related disorder Supplemental_disease_name DISEASE_NAME:txn2_related_disorder TXN2-related disorder Supplemental_disease_name DISEASE_NAME:txndc15_related_disorder TXNDC15-related disorder Supplemental_disease_name DISEASE_NAME:txndc5_related_condition TXNDC5-related condition Supplemental_disease_name DISEASE_NAME:txnl4a_related_disorder TXNL4A-related disorder Supplemental_disease_name DISEASE_NAME:txnrd2_associated_cardiomyopathy TXNRD2-associated Cardiomyopathy Supplemental_disease_name DISEASE_NAME:txnrd2_related_disorder TXNRD2-related disorder Supplemental_disease_name DISEASE_NAME:tyk2_related_disorder TYK2-related disorder Supplemental_disease_name DISEASE_NAME:tymp_related_disorder TYMP-related disorder Supplemental_disease_name DISEASE_NAME:tyms_related_disorder TYMS-related disorder Supplemental_disease_name DISEASE_NAME:type_1_diabetes_mellitus_10_immunodeficiency_due_to_cd25_deficiency Type 1 diabetes mellitus 10;Immunodeficiency due to CD25 deficiency Supplemental_disease_name DISEASE_NAME:type_1_diabetes_mellitus_12_systemic_lupus_erythematosus_autoimmune_lymphoproliferative_syndrome_due_to_ctla4_haploinsufficiency_celiac_disease_susceptibility_to_3_hashimoto_thyroiditis Type 1 diabetes mellitus 12;Systemic lupus erythematosus;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency;Celiac disease, susceptibility to, 3;Hashimoto thyroiditis Supplemental_disease_name DISEASE_NAME:type_1_diabetes_mellitus_20_diabetes_mellitus_type_1_maturity_onset_diabetes_of_the_young_type_3_type_2_diabetes_mellitus Type 1 diabetes mellitus 20;Diabetes mellitus type 1;Maturity-onset diabetes of the young type 3;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:type_1_diabetes_mellitus_2_diabetes_mellitus_permanent_neonatal_4_hyperproinsulinemia_maturity_onset_diabetes_of_the_young_type_10 Type 1 diabetes mellitus 2;Diabetes mellitus, permanent neonatal 4;Hyperproinsulinemia;Maturity-onset diabetes of the young type 10 Supplemental_disease_name DISEASE_NAME:type_1_diabetes_mellitus_2_diabetes_mellitus_permanent_neonatal_4_maturity_onset_diabetes_of_the_young_type_10_hyperproinsulinemia Type 1 diabetes mellitus 2;Diabetes mellitus, permanent neonatal 4;Maturity-onset diabetes of the young type 10;Hyperproinsulinemia Supplemental_disease_name DISEASE_NAME:type_1_interferonopathy Type 1 interferonopathy Supplemental_disease_name DISEASE_NAME:type_1_interferonopathy_of_childhood Type 1 interferonopathy of childhood Supplemental_disease_name DISEASE_NAME:type_2_collagenopathy Type 2 collagenopathy Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_1_susceptibility_to Type 2 diabetes mellitus 1, susceptibility to Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_5_susceptibility_to TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_arterial_calcification_generalized_of_infancy_1_hypopigmentation_punctate_palmoplantar_keratoderma_syndrome_hypophosphatemic_rickets_autosomal_recessive_2_inherited_obesity Type 2 diabetes mellitus;Arterial calcification, generalized, of infancy, 1;Hypopigmentation-punctate palmoplantar keratoderma syndrome;Hypophosphatemic rickets, autosomal recessive, 2;Inherited obesity Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_carotid_intimal_medial_thickness_1_inherited_obesity_pparg_related_familial_partial_lipodystrophy Type 2 diabetes mellitus;CAROTID INTIMAL MEDIAL THICKNESS 1;Inherited obesity;PPARG-related familial partial lipodystrophy Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_diabetes_mellitus_permanent_neonatal_3_diabetes_mellitus_transient_neonatal_2_hyperinsulinemic_hypoglycemia_familial_1_leucine_induced_hypoglycemia Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_diabetes_mellitus_transient_neonatal_2_hyperinsulinemic_hypoglycemia_familial_1_diabetes_mellitus_permanent_neonatal_3_leucine_induced_hypoglycemia Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3;Leucine-induced hypoglycemia Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_diabetes_mellitus_transient_neonatal_3_hyperinsulinemic_hypoglycemia_familial_2_maturity_onset_diabetes_of_the_young_type_13_diabetes_mellitus_permanent_neonatal_2 Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13;Diabetes mellitus, permanent neonatal 2 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_fanconi_bickel_syndrome Type 2 diabetes mellitus;Fanconi-Bickel syndrome Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_1_diabetes_mellitus_permanent_neonatal_3_diabetes_mellitus_transient_neonatal_2_leucine_induced_hypoglycemia Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Leucine-induced hypoglycemia Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_1_permanent_neonatal_diabetes_mellitus_diabetes_mellitus_transient_neonatal_2_leucine_induced_hypoglycemia Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1;Permanent neonatal diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Leucine-induced hypoglycemia Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_2_diabetes_mellitus_permanent_neonatal_2_diabetes_mellitus_transient_neonatal_3_maturity_onset_diabetes_of_the_young_type_13 Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, permanent neonatal 2;Diabetes mellitus, transient neonatal, 3;Maturity-onset diabetes of the young type 13 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_2_maturity_onset_diabetes_of_the_young_type_13_diabetes_mellitus_transient_neonatal_3_permanent_neonatal_diabetes_mellitus Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13;Diabetes mellitus, transient neonatal, 3;Permanent neonatal diabetes mellitus Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_2_permanent_neonatal_diabetes_mellitus_diabetes_mellitus_transient_neonatal_3_maturity_onset_diabetes_of_the_young_type_13 Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 2;Permanent neonatal diabetes mellitus;Diabetes mellitus, transient neonatal, 3;Maturity-onset diabetes of the young type 13 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_3_maturity_onset_diabetes_of_the_young_type_2 Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 3;Maturity-onset diabetes of the young type 2 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_3_maturity_onset_diabetes_of_the_young_type_2_permanent_neonatal_diabetes_mellitus_1 Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 3;Maturity-onset diabetes of the young type 2;Permanent neonatal diabetes mellitus 1 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_3_permanent_neonatal_diabetes_mellitus_1_maturity_onset_diabetes_of_the_young_type_2 Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 3;Permanent neonatal diabetes mellitus 1;Maturity-onset diabetes of the young type 2 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperinsulinemic_hypoglycemia_familial_3_permanent_neonatal_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_2 Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 3;Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young type 2 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperlipidemia_due_to_hepatic_triglyceride_lipase_deficiency Type 2 diabetes mellitus;Hyperlipidemia due to hepatic triglyceride lipase deficiency Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hyperlipidemia_due_to_hepatic_triglyceride_lipase_deficiency_high_density_lipoprotein_cholesterol_level_quantitative_trait_locus_12 Type 2 diabetes mellitus;Hyperlipidemia due to hepatic triglyceride lipase deficiency;High density lipoprotein cholesterol level quantitative trait locus 12 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_hypoinsulinemic_hypoglycemia_and_body_hemihypertrophy Type 2 diabetes mellitus;Hypoinsulinemic hypoglycemia and body hemihypertrophy Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_leucine_induced_hypoglycemia_hyperinsulinemic_hypoglycemia_familial_1_diabetes_mellitus_transient_neonatal_2_permanent_neonatal_diabetes_mellitus Type 2 diabetes mellitus;Leucine-induced hypoglycemia;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, transient neonatal, 2;Permanent neonatal diabetes mellitus Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_1 Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 1 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_1_fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 1;Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_2_hyperinsulinemic_hypoglycemia_familial_3_permanent_neonatal_diabetes_mellitus_1 Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 2;Hyperinsulinemic hypoglycemia, familial, 3;Permanent neonatal diabetes mellitus 1 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_4 Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 4 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_4_pancreatic_agenesis_1 Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 4;Pancreatic agenesis 1 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_6 Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 6 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_9 Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 9 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_nonpapillary_renal_cell_carcinoma_renal_cysts_and_diabetes_syndrome Type 2 diabetes mellitus;Nonpapillary renal cell carcinoma;Renal cysts and diabetes syndrome Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_permanent_neonatal_diabetes_mellitus_1_maturity_onset_diabetes_of_the_young_type_2_hyperinsulinemic_hypoglycemia_familial_3 Type 2 diabetes mellitus;Permanent neonatal diabetes mellitus 1;Maturity-onset diabetes of the young type 2;Hyperinsulinemic hypoglycemia, familial, 3 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_permanent_neonatal_diabetes_mellitus_maturity_onset_diabetes_of_the_young_type_2_hyperinsulinemic_hypoglycemia_familial_3 Type 2 diabetes mellitus;Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young type 2;Hyperinsulinemic hypoglycemia, familial, 3 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_renal_cysts_and_diabetes_syndrome Type 2 diabetes mellitus;Renal cysts and diabetes syndrome Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_renal_cysts_and_diabetes_syndrome_nonpapillary_renal_cell_carcinoma Type 2 diabetes mellitus;Renal cysts and diabetes syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_type_1_diabetes_mellitus_20_maturity_onset_diabetes_of_the_young_type_3_diabetes_mellitus_type_1 Type 2 diabetes mellitus;Type 1 diabetes mellitus 20;Maturity-onset diabetes of the young type 3;Diabetes mellitus type 1 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_wolfram_like_syndrome_autosomal_dominant_nonsyndromic_hearing_loss_6_wolfram_syndrome_1_cataract_41 Type 2 diabetes mellitus;Wolfram-like syndrome;Autosomal dominant nonsyndromic hearing loss 6;Wolfram syndrome 1;Cataract 41 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_wolfram_like_syndrome_cataract_41_wolfram_syndrome_1_autosomal_dominant_nonsyndromic_hearing_loss_6 Type 2 diabetes mellitus;Wolfram-like syndrome;Cataract 41;Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6 Supplemental_disease_name DISEASE_NAME:type_2_diabetes_mellitus_wolfram_syndrome_1 Type 2 diabetes mellitus;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:type_a2_brachydactyly Type A2 brachydactyly Supplemental_disease_name DISEASE_NAME:type_a2_brachydactyly_acromesomelic_dysplasia_3 Type A2 brachydactyly;Acromesomelic dysplasia 3 Supplemental_disease_name DISEASE_NAME:type_a2_brachydactyly_acromesomelic_dysplasia_3_brachydactyly_type_a1d Type A2 brachydactyly;Acromesomelic dysplasia 3;Brachydactyly type A1D Supplemental_disease_name DISEASE_NAME:type_a2_brachydactyly_brachydactyly_type_a1d Type A2 brachydactyly;Brachydactyly type A1D Supplemental_disease_name DISEASE_NAME:type_a2_brachydactyly_brachydactyly_type_a1d_acromesomelic_dysplasia_3 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 Supplemental_disease_name DISEASE_NAME:type_a2_brachydactyly_brachydactyly_type_c_brachydactyly_type_a1c Type A2 brachydactyly;Brachydactyly type C;Brachydactyly type A1C Supplemental_disease_name DISEASE_NAME:type_a2_brachydactyly_short_stature_facial_dysmorphism_and_skeletal_anomalies_with_or_without_cardiac_anomalies Type A2 brachydactyly;Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Supplemental_disease_name DISEASE_NAME:type_i_truncus_arteriosus Type I truncus arteriosus Supplemental_disease_name DISEASE_NAME:typical_absence_seizure_myoclonic_epilepsy_juvenile_susceptibility_to_1 Typical absence seizure;Myoclonic epilepsy, juvenile, susceptibility to, 1 Supplemental_disease_name DISEASE_NAME:typical_joubert_syndrome_mri_findings_global_developmental_delay Typical Joubert syndrome MRI findings;Global developmental delay Supplemental_disease_name DISEASE_NAME:typical_paroxysmal_kinesigenic_dyskinesia typical paroxysmal kinesigenic dyskinesia Supplemental_disease_name DISEASE_NAME:tyr_related_disorder TYR-related disorder Supplemental_disease_name DISEASE_NAME:tyrobp_related_disorder TYROBP-related disorder Supplemental_disease_name DISEASE_NAME:tyrosinase_positive_oculocutaneous_albinism Tyrosinase-positive oculocutaneous albinism Supplemental_disease_name DISEASE_NAME:tyrosinase_positive_oculocutaneous_albinism_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_melanoma_cutaneous_malignant_susceptibility_to_5_skin_hair_eye_pigmentation_variation_in_2 Tyrosinase-positive oculocutaneous albinism;Increased analgesia from kappa-opioid receptor agonist, female-specific;Melanoma, cutaneous malignant, susceptibility to, 5;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Supplemental_disease_name DISEASE_NAME:tyrosinase_positive_oculocutaneous_albinism_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_skin_hair_eye_pigmentation_variation_in_2_melanoma_cutaneous_malignant_susceptibility_to_5 Tyrosinase-positive oculocutaneous albinism;Increased analgesia from kappa-opioid receptor agonist, female-specific;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Melanoma, cutaneous malignant, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:tyrosinase_positive_oculocutaneous_albinism_melanoma_cutaneous_malignant_susceptibility_to_5_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_skin_hair_eye_pigmentation_variation_in_2 Tyrosinase-positive oculocutaneous albinism;Melanoma, cutaneous malignant, susceptibility to, 5;Increased analgesia from kappa-opioid receptor agonist, female-specific;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Supplemental_disease_name DISEASE_NAME:tyrosinase_positive_oculocutaneous_albinism_melanoma_cutaneous_malignant_susceptibility_to_5_skin_hair_eye_pigmentation_variation_in_2_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific Tyrosinase-positive oculocutaneous albinism;Melanoma, cutaneous malignant, susceptibility to, 5;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Increased analgesia from kappa-opioid receptor agonist, female-specific Supplemental_disease_name DISEASE_NAME:tyrosinase_positive_oculocutaneous_albinism_skin_hair_eye_pigmentation_1_blue_nonblue_eyes Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Supplemental_disease_name DISEASE_NAME:tyrosinase_positive_oculocutaneous_albinism_skin_hair_eye_pigmentation_variation_in_2_increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific_melanoma_cutaneous_malignant_susceptibility_to_5 Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Increased analgesia from kappa-opioid receptor agonist, female-specific;Melanoma, cutaneous malignant, susceptibility to, 5 Supplemental_disease_name DISEASE_NAME:tyrosine_hydroxylase_deficiency Tyrosine hydroxylase deficiency Supplemental_disease_name DISEASE_NAME:tyrosine_kinase_inhibitor_response Tyrosine kinase inhibitor response Supplemental_disease_name DISEASE_NAME:tyrosinemia_type_iii_hawkinsinuria Tyrosinemia type III;Hawkinsinuria Supplemental_disease_name DISEASE_NAME:tyrp1_related_disorder TYRP1-related disorder Supplemental_disease_name DISEASE_NAME:u2af1_related_disorder U2AF1-related disorder Supplemental_disease_name DISEASE_NAME:u2af1l5_related_condition U2AF1L5-related condition Supplemental_disease_name DISEASE_NAME:u2af2_related_neurodevelopmental_disorder U2AF2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:uaca_related_disorder UACA-related disorder Supplemental_disease_name DISEASE_NAME:uba1_related_disorder UBA1-related disorder Supplemental_disease_name DISEASE_NAME:uba2_related_disorder UBA2-related disorder Supplemental_disease_name DISEASE_NAME:uba2_related_neurodevelopmental_disorder_with_multiple_anomalies UBA2-related neurodevelopmental disorder with multiple anomalies Supplemental_disease_name DISEASE_NAME:uba5_related_disorder UBA5-related disorder Supplemental_disease_name DISEASE_NAME:uba7_related_disorder UBA7-related disorder Supplemental_disease_name DISEASE_NAME:ubap1_related_disorder UBAP1-related disorder Supplemental_disease_name DISEASE_NAME:ubap1l_related_disorder UBAP1L-related disorder Supplemental_disease_name DISEASE_NAME:ubap2l_related_condition UBAP2L-related condition Supplemental_disease_name DISEASE_NAME:ubash3a_related_disorder UBASH3A-related disorder Supplemental_disease_name DISEASE_NAME:ube2a_related_disorder UBE2A-related disorder Supplemental_disease_name DISEASE_NAME:ube2b_related_disorder UBE2B-related disorder Supplemental_disease_name DISEASE_NAME:ube2h_related_disorder UBE2H-related disorder Supplemental_disease_name DISEASE_NAME:ube3a_related_disorder UBE3A-related disorder Supplemental_disease_name DISEASE_NAME:ube3b_related_disorder UBE3B-related disorder Supplemental_disease_name DISEASE_NAME:ube3c_related_disorder UBE3C-related disorder Supplemental_disease_name DISEASE_NAME:ube4a_related_disorder UBE4A-related disorder Supplemental_disease_name DISEASE_NAME:ube4a_related_neurodevelopmental_disorder UBE4A-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ubiad1_related_disorder UBIAD1-related disorder Supplemental_disease_name DISEASE_NAME:ubn2_associated_autism_susceptibility UBN2 associated Autism susceptibility Supplemental_disease_name DISEASE_NAME:ubn2_related_disorder UBN2-related disorder Supplemental_disease_name DISEASE_NAME:ubqln2_related_disorder UBQLN2-related disorder Supplemental_disease_name DISEASE_NAME:ubr1_related_disorder UBR1-related disorder Supplemental_disease_name DISEASE_NAME:ubr3_related_disorder UBR3-related disorder Supplemental_disease_name DISEASE_NAME:ubr4_associated_neurodevelopmental_syndrome UBR4-associated neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:ubr4_related_disorder UBR4-related disorder Supplemental_disease_name DISEASE_NAME:ubr5_associated_neurodevelopmental_condition UBR5-associated neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:ubr5_associated_neurodevelopmental_disorder UBR5-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ubr5_related_disorder UBR5-related disorder Supplemental_disease_name DISEASE_NAME:ubr5_related_neurodevelopmental_disorder UBR5-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ubtf_e210k_neuroregression_syndrome UBTF E210K Neuroregression Syndrome Supplemental_disease_name DISEASE_NAME:ubtf_related_disorder UBTF-related disorder Supplemental_disease_name DISEASE_NAME:uchl1_related_disorder UCHL1-related disorder Supplemental_disease_name DISEASE_NAME:ucp1_polymorphism UCP1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:ucp2_related_disorder UCP2-related disorder Supplemental_disease_name DISEASE_NAME:ucp3_polymorphism_exon_6_splice_donor_junction UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION Supplemental_disease_name DISEASE_NAME:ucp3_polymorphism_g_a UCP3 POLYMORPHISM G/A Supplemental_disease_name DISEASE_NAME:ucp3_related_disorder UCP3-related disorder Supplemental_disease_name DISEASE_NAME:udpglucose_4_epimerase_deficiency UDPglucose-4-epimerase deficiency Supplemental_disease_name DISEASE_NAME:udpglucose_4_epimerase_deficiency_thrombocytopenia_13_syndromic UDPglucose-4-epimerase deficiency;Thrombocytopenia 13, syndromic Supplemental_disease_name DISEASE_NAME:ufc1_related_disorder UFC1-related disorder Supplemental_disease_name DISEASE_NAME:ufd1_related_disorder UFD1-related disorder Supplemental_disease_name DISEASE_NAME:ufm1_related_disorder UFM1-related disorder Supplemental_disease_name DISEASE_NAME:ufsp2_related_disorder UFSP2-related disorder Supplemental_disease_name DISEASE_NAME:ufsp2_related_neurodevelopmental_disorder UFSP2-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:ugdh_related_disorder UGDH-related disorder Supplemental_disease_name DISEASE_NAME:ugp2_related_disorder UGP2-related disorder Supplemental_disease_name DISEASE_NAME:ugt1a1_related_disorder UGT1A1-related disorder Supplemental_disease_name DISEASE_NAME:ugt1a4_related_disorder UGT1A4-related disorder Supplemental_disease_name DISEASE_NAME:ugt1a8_related_condition UGT1A8-related condition Supplemental_disease_name DISEASE_NAME:ugt1a9_related_disorder UGT1A9-related disorder Supplemental_disease_name DISEASE_NAME:ugt2b17_related_disorder UGT2B17-related disorder Supplemental_disease_name DISEASE_NAME:ulk1_related_disorder ULK1-related disorder Supplemental_disease_name DISEASE_NAME:ulk4_related_disorder ULK4-related disorder Supplemental_disease_name DISEASE_NAME:ullrich_congenital_muscular_dystrophy_1a_autosomal_dominant ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT Supplemental_disease_name DISEASE_NAME:ullrich_congenital_muscular_dystrophy_1a_bethlem_myopathy_1a Ullrich congenital muscular dystrophy 1A;Bethlem myopathy 1A Supplemental_disease_name DISEASE_NAME:ullrich_congenital_muscular_dystrophy_1a_bethlem_myopathy_1a_dystonia_27 Ullrich congenital muscular dystrophy 1A;Bethlem myopathy 1A;Dystonia 27 Supplemental_disease_name DISEASE_NAME:ullrich_congenital_muscular_dystrophy_1a_bethlem_myopathy_1a_myosclerosis Ullrich congenital muscular dystrophy 1A;Bethlem myopathy 1A;Myosclerosis Supplemental_disease_name DISEASE_NAME:ullrich_congenital_muscular_dystrophy_1a_dystonia_27_bethlem_myopathy_1a Ullrich congenital muscular dystrophy 1A;Dystonia 27;Bethlem myopathy 1A Supplemental_disease_name DISEASE_NAME:ullrich_congenital_muscular_dystrophy_1b_bethlem_myopathy_1b_myosclerosis Ullrich congenital muscular dystrophy 1B;Bethlem myopathy 1B;Myosclerosis Supplemental_disease_name DISEASE_NAME:ullrich_congenital_muscular_dystrophy_2_bethlem_myopathy_2 Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 Supplemental_disease_name DISEASE_NAME:ullrich_congenital_muscular_dystrophy_bethlem_myopathy Ullrich congenital muscular dystrophy;Bethlem myopathy Supplemental_disease_name DISEASE_NAME:ullrich_congenital_muscular_dystrophy_bethlem_myopathy_2 Ullrich congenital muscular dystrophy;Bethlem myopathy 2 Supplemental_disease_name DISEASE_NAME:ulnar_deviation_of_the_wrist Ulnar deviation of the wrist Supplemental_disease_name DISEASE_NAME:ulnar_deviation_of_the_wrist_calcaneovalgus_deformity_distal_arthrogryposis_congenital_finger_flexion_contractures Ulnar deviation of the wrist;Calcaneovalgus deformity;Distal arthrogryposis;Congenital finger flexion contractures Supplemental_disease_name DISEASE_NAME:ulnar_fibula_ray_defect_brachydactyly_syndrome Ulnar/fibula ray defect-brachydactyly syndrome Supplemental_disease_name DISEASE_NAME:umls_c0007644 UMLS: C0007644 Supplemental_disease_name DISEASE_NAME:umod_related_disorder UMOD-related disorder Supplemental_disease_name DISEASE_NAME:umps_related_disorder UMPS-related disorder Supplemental_disease_name DISEASE_NAME:unc119_related_disorder UNC119-related disorder Supplemental_disease_name DISEASE_NAME:unc13a_associated_disorder UNC13A-associated disorder Supplemental_disease_name DISEASE_NAME:unc13a_associated_neurodevelopmental_disorder UNC13A-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:unc13a_related_disorder UNC13A-related disorder Supplemental_disease_name DISEASE_NAME:unc13a_related_neurodevelopmental_and_movement_disorder UNC13A-related Neurodevelopmental and Movement disorder Supplemental_disease_name DISEASE_NAME:unc13b_related_seizure_disorder UNC13B-related seizure disorder Supplemental_disease_name DISEASE_NAME:unc13d_related_disorder UNC13D-related disorder Supplemental_disease_name DISEASE_NAME:unc45a_related_disorder UNC45A-related disorder Supplemental_disease_name DISEASE_NAME:unc45b_related_disorder UNC45B-related disorder Supplemental_disease_name DISEASE_NAME:unc50_related_disorder UNC50-related disorder Supplemental_disease_name DISEASE_NAME:unc5a_related_disorder UNC5A-related disorder Supplemental_disease_name DISEASE_NAME:unc5b_related_disorder UNC5B-related disorder Supplemental_disease_name DISEASE_NAME:unc5c_related_disorder UNC5C-related disorder Supplemental_disease_name DISEASE_NAME:unc79_associated_neurodevelopmental_disorder UNC79-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:unc79_associated_seizure_disorder UNC79-associated seizure disorder Supplemental_disease_name DISEASE_NAME:unc79_related_disorder UNC79-related disorder Supplemental_disease_name DISEASE_NAME:unc79_related_neurodevelopmental_disorder UNC79-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:unc80_related_disorder UNC80-related disorder Supplemental_disease_name DISEASE_NAME:unc93b1_related_disorder UNC93B1-related disorder Supplemental_disease_name DISEASE_NAME:unclassified_developmental_and_epileptic_encephalopathy unclassified developmental and epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:uncombable_hair_syndrome_1 Uncombable hair syndrome 1 Supplemental_disease_name DISEASE_NAME:uncombable_hair_syndrome_2 Uncombable hair syndrome 2 Supplemental_disease_name DISEASE_NAME:uncombable_hair_syndrome_3 Uncombable hair syndrome 3 Supplemental_disease_name DISEASE_NAME:undefined_nrxn1_related_disorders Undefined NRXN1-related disorders Supplemental_disease_name DISEASE_NAME:undetermined_early_onset_epileptic_encephalopathy Undetermined early-onset epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:undifferentiated_embryonal_sarcoma Undifferentiated (embryonal) sarcoma Supplemental_disease_name DISEASE_NAME:undifferentiated_embryonal_sarcoma_of_the_liver Undifferentiated embryonal sarcoma of the liver Supplemental_disease_name DISEASE_NAME:unexplained_death_in_infancy_and_sudden_unexplained_death_in_childhood Unexplained death in infancy and sudden unexplained death in childhood Supplemental_disease_name DISEASE_NAME:unexplained_young_onset_end_stage_renal_disease Unexplained young onset end-stage renal disease Supplemental_disease_name DISEASE_NAME:ung_related_disorder UNG-related disorder Supplemental_disease_name DISEASE_NAME:unilateral_deafness Unilateral deafness Supplemental_disease_name DISEASE_NAME:unilateral_microphthalmos Unilateral microphthalmos Supplemental_disease_name DISEASE_NAME:unilateral_polymicrogyria_frontoparietal_polymicrogyria_seizure_abnormal_cerebral_white_matter_morphology Unilateral polymicrogyria;Frontoparietal polymicrogyria;Seizure;Abnormal cerebral white matter morphology Supplemental_disease_name DISEASE_NAME:unilateral_renal_agenesis Unilateral renal agenesis Supplemental_disease_name DISEASE_NAME:unilateral_renal_agenesis_aplasia_of_the_vagina Unilateral renal agenesis;Aplasia of the vagina Supplemental_disease_name DISEASE_NAME:unipolar_depression_susceptibility_to Unipolar depression, susceptibility to Supplemental_disease_name DISEASE_NAME:unspecified_heart_condition unspecified heart condition Supplemental_disease_name DISEASE_NAME:upb1_related_disorder UPB1-related disorder Supplemental_disease_name DISEASE_NAME:upf1_related_disorder UPF1-related disorder Supplemental_disease_name DISEASE_NAME:upf3b_associated_intellectual_disability UPF3B-associated intellectual disability Supplemental_disease_name DISEASE_NAME:upf3b_related_disorder UPF3B-related disorder Supplemental_disease_name DISEASE_NAME:upf3b_related_neurodevelopmental_disorder UPF3B-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:upk3a_related_disorder UPK3A-related disorder Supplemental_disease_name DISEASE_NAME:upshaw_schulman_syndrome Upshaw-Schulman syndrome Supplemental_disease_name DISEASE_NAME:uqcc2_related_disorder UQCC2-related disorder Supplemental_disease_name DISEASE_NAME:uqcc3_related_disorder UQCC3-related disorder Supplemental_disease_name DISEASE_NAME:uqcrb_related_disorder UQCRB-related disorder Supplemental_disease_name DISEASE_NAME:uqcrc1_related_disorder UQCRC1-related disorder Supplemental_disease_name DISEASE_NAME:uqcrc2_related_disorder UQCRC2-related disorder Supplemental_disease_name DISEASE_NAME:uqcrq_related_disorder UQCRQ-related disorder Supplemental_disease_name DISEASE_NAME:urethral_cancer Urethral cancer Supplemental_disease_name DISEASE_NAME:urethral_stricture_penile_hypospadias_abnormality_of_the_vertebral_column_patent_foramen_ovale_imperforate_anus Urethral stricture;Penile hypospadias;Abnormality of the vertebral column;Patent foramen ovale;Imperforate anus Supplemental_disease_name DISEASE_NAME:uric_acid_concentration_serum_quantitative_trait_locus_1 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:uric_acid_concentration_serum_quantitative_trait_locus_1_blood_group_junior_system URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1;BLOOD GROUP, JUNIOR SYSTEM Supplemental_disease_name DISEASE_NAME:uric_acid_concentration_serum_quantitative_trait_locus_2 Uric acid concentration, serum, quantitative trait locus 2 Supplemental_disease_name DISEASE_NAME:uric_acid_concentration_serum_quantitative_trait_locus_4 Uric acid concentration, serum, quantitative trait locus 4 Supplemental_disease_name DISEASE_NAME:uridine_cytidineuria Uridine-cytidineuria Supplemental_disease_name DISEASE_NAME:urinary_bladder_atony_of Urinary bladder, atony of Supplemental_disease_name DISEASE_NAME:urinary_bladder_atony_of_smoking_as_a_quantitative_trait_locus_3 Urinary bladder, atony of;SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 Supplemental_disease_name DISEASE_NAME:uroc1_related_disorder UROC1-related disorder Supplemental_disease_name DISEASE_NAME:urod_related_disorder UROD-related disorder Supplemental_disease_name DISEASE_NAME:urod_related_inherited_porphyria UROD-related inherited porphyria Supplemental_disease_name DISEASE_NAME:urofacial_syndrome_2 Urofacial syndrome 2 Supplemental_disease_name DISEASE_NAME:urofacial_syndrome_type_1 Urofacial syndrome type 1 Supplemental_disease_name DISEASE_NAME:urogenital_tract_malformation Urogenital tract malformation Supplemental_disease_name DISEASE_NAME:urogenital_tract_malformation_abnormal_heart_morphology Urogenital tract malformation;Abnormal heart morphology Supplemental_disease_name DISEASE_NAME:urogenital_tract_malformation_abnormal_heart_morphology_congenital_diaphragmatic_hernia Urogenital tract malformation;Abnormal heart morphology;Congenital diaphragmatic hernia Supplemental_disease_name DISEASE_NAME:uros_related_disorder UROS-related disorder Supplemental_disease_name DISEASE_NAME:uruguay_faciocardiomusculoskeletal_syndrome_x_linked_scapuloperoneal_muscular_dystrophy_myopathy_reducing_body_x_linked_childhood_onset_myopathy_reducing_body_x_linked_early_onset_severe_x_linked_myopathy_with_postural_muscle_atrophy Uruguay Faciocardiomusculoskeletal syndrome;X-linked scapuloperoneal muscular dystrophy;Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;X-linked myopathy with postural muscle atrophy Supplemental_disease_name DISEASE_NAME:uruguay_faciocardiomusculoskeletal_syndrome_x_linked_scapuloperoneal_muscular_dystrophy_myopathy_reducing_body_x_linked_childhood_onset_x_linked_myopathy_with_postural_muscle_atrophy_myopathy_reducing_body_x_linked_early_onset_severe Uruguay Faciocardiomusculoskeletal syndrome;X-linked scapuloperoneal muscular dystrophy;Myopathy, reducing body, X-linked, childhood-onset;X-linked myopathy with postural muscle atrophy;Myopathy, reducing body, X-linked, early-onset, severe Supplemental_disease_name DISEASE_NAME:usb1_related_disorder USB1-related disorder Supplemental_disease_name DISEASE_NAME:ush1c_related_disorder USH1C-related disorder Supplemental_disease_name DISEASE_NAME:ush1g_related_disorder USH1G-related disorder Supplemental_disease_name DISEASE_NAME:ush2a_related_disorder USH2A-related disorder Supplemental_disease_name DISEASE_NAME:usher_syndrome_rare_genetic_deafness Usher syndrome;Rare genetic deafness Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1_autosomal_dominant_nonsyndromic_hearing_loss_11_autosomal_recessive_nonsyndromic_hearing_loss_2 Usher syndrome type 1;Autosomal dominant nonsyndromic hearing loss 11;Autosomal recessive nonsyndromic hearing loss 2 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1_autosomal_recessive_nonsyndromic_hearing_loss_18a_usher_syndrome_type_1c Usher syndrome type 1;Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1C Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1_autosomal_recessive_nonsyndromic_hearing_loss_2 Usher syndrome type 1;Autosomal recessive nonsyndromic hearing loss 2 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1_autosomal_recessive_nonsyndromic_hearing_loss_2_autosomal_dominant_nonsyndromic_hearing_loss_11 Usher syndrome type 1;Autosomal recessive nonsyndromic hearing loss 2;Autosomal dominant nonsyndromic hearing loss 11 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1_autosomal_recessive_nonsyndromic_hearing_loss_2_retinitis_pigmentosa_autosomal_dominant_nonsyndromic_hearing_loss_11 Usher syndrome type 1;Autosomal recessive nonsyndromic hearing loss 2;Retinitis pigmentosa;Autosomal dominant nonsyndromic hearing loss 11 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1_usher_syndrome_type_1c_autosomal_recessive_nonsyndromic_hearing_loss_18a Usher syndrome type 1;Usher syndrome type 1C;Autosomal recessive nonsyndromic hearing loss 18A Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1_usher_syndrome_type_1d Usher syndrome type 1;Usher syndrome type 1D Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1c_autosomal_recessive_nonsyndromic_hearing_loss_18a Usher syndrome type 1C;Autosomal recessive nonsyndromic hearing loss 18A Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1c_autosomal_recessive_nonsyndromic_hearing_loss_18a_usher_syndrome_type_1 Usher syndrome type 1C;Autosomal recessive nonsyndromic hearing loss 18A;Usher syndrome type 1 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1c_usher_syndrome_type_1_autosomal_recessive_nonsyndromic_hearing_loss_18a Usher syndrome type 1C;Usher syndrome type 1;Autosomal recessive nonsyndromic hearing loss 18A Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1d_autosomal_recessive_nonsyndromic_hearing_loss_12 Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 12 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1d_autosomal_recessive_nonsyndromic_hearing_loss_12_pituitary_adenoma_5_multiple_types Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 12;Pituitary adenoma 5, multiple types Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1d_autosomal_recessive_nonsyndromic_hearing_loss_23 Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 23 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1d_autosomal_recessive_nonsyndromic_hearing_loss_23_usher_syndrome_type_1f Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 23;Usher syndrome type 1F Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1d_autosomal_recessive_nonsyndromic_hearing_loss_84a Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 84A Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1d_pituitary_adenoma_5_multiple_types_autosomal_recessive_nonsyndromic_hearing_loss_12 Usher syndrome type 1D;Pituitary adenoma 5, multiple types;Autosomal recessive nonsyndromic hearing loss 12 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1d_prelingual_sensorineural_hearing_impairment Usher syndrome type 1D;Prelingual sensorineural hearing impairment Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1d_usher_syndrome_type_1f_autosomal_recessive_nonsyndromic_hearing_loss_23 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1f_autosomal_recessive_nonsyndromic_hearing_loss_23 Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1f_autosomal_recessive_nonsyndromic_hearing_loss_23_usher_syndrome_type_1d Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23;Usher syndrome type 1D Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1f_usher_syndrome_type_1d_autosomal_recessive_nonsyndromic_hearing_loss_23 Usher syndrome type 1F;Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 23 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1m Usher syndrome, type 1M Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1m_autosomal_recessive_nonsyndromic_hearing_loss_36 Usher syndrome, type 1M;Autosomal recessive nonsyndromic hearing loss 36 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_2a_autosomal_recessive_nonsyndromic_hearing_loss_12 Usher syndrome type 2A;Autosomal recessive nonsyndromic hearing loss 12 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_2a_hearing_loss_autosomal_recessive_57_usher_syndrome_type_2c Usher syndrome type 2A;Hearing loss, autosomal recessive 57;Usher syndrome type 2C Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_2a_retinitis_pigmentosa_39 Usher syndrome type 2A;Retinitis pigmentosa 39 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_2a_retinitis_pigmentosa_39_ush2a_related_disorder Usher syndrome type 2A;Retinitis pigmentosa 39;USH2A-related disorder Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_2a_usher_syndrome_type_2c_hearing_loss_autosomal_recessive_57 Usher syndrome type 2A;Usher syndrome type 2C;Hearing loss, autosomal recessive 57 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_2c_febrile_seizures_familial_4 Usher syndrome type 2C;Febrile seizures, familial, 4 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_2c_usher_syndrome_type_2a_hearing_loss_autosomal_recessive_57 Usher syndrome type 2C;Usher syndrome type 2A;Hearing loss, autosomal recessive 57 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_2d_autosomal_recessive_nonsyndromic_hearing_loss_31 Usher syndrome type 2D;Autosomal recessive nonsyndromic hearing loss 31 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_3a_retinitis_pigmentosa Usher syndrome type 3A;Retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_3a_retinitis_pigmentosa_61 Usher syndrome type 3A;Retinitis pigmentosa 61 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_3a_retinitis_pigmentosa_61_retinitis_pigmentosa Usher syndrome type 3A;Retinitis pigmentosa 61;Retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_3b_autosomal_dominant_charcot_marie_tooth_disease_type_2w Usher syndrome type 3B;Autosomal dominant Charcot-Marie-Tooth disease type 2W Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_3b_autosomal_dominant_charcot_marie_tooth_disease_type_2w_usher_syndrome_type_3 Usher syndrome type 3B;Autosomal dominant Charcot-Marie-Tooth disease type 2W;Usher syndrome type 3 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_4 Usher syndrome, type 4 Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_id_f_digenic USHER SYNDROME, TYPE ID/F, DIGENIC Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_iic_gpr98_pdzd7_digenic Usher syndrome, type IIC, GPR98/PDZD7 digenic Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_iic_gpr98_pdzd7_digenic_hearing_loss_autosomal_recessive_57 Usher syndrome, type IIC, GPR98/PDZD7 digenic;Hearing loss, autosomal recessive 57 Supplemental_disease_name DISEASE_NAME:usmani_riazuddin_syndrome Usmani-Riazuddin syndrome Supplemental_disease_name DISEASE_NAME:usmani_riazuddin_syndrome_autosomal_dominant Usmani-Riazuddin syndrome, autosomal dominant Supplemental_disease_name DISEASE_NAME:usmani_riazuddin_syndrome_autosomal_dominant_usmani_riazuddin_syndrome_autosomal_recessive Usmani-Riazuddin syndrome, autosomal dominant;Usmani-Riazuddin syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:usmani_riazuddin_syndrome_autosomal_recessive Usmani-Riazuddin syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:uso1_related_disorder USO1-related disorder Supplemental_disease_name DISEASE_NAME:usp11_related_disorder USP11-related disorder Supplemental_disease_name DISEASE_NAME:usp15_related_disorder USP15-related disorder Supplemental_disease_name DISEASE_NAME:usp18_related_disorder USP18-related disorder Supplemental_disease_name DISEASE_NAME:usp26_related_disorder USP26-related disorder Supplemental_disease_name DISEASE_NAME:usp27x_related_disorder USP27X-related disorder Supplemental_disease_name DISEASE_NAME:usp44_related_disorder USP44-related disorder Supplemental_disease_name DISEASE_NAME:usp45_related_disorder USP45-related disorder Supplemental_disease_name DISEASE_NAME:usp48_related_condition USP48-related condition Supplemental_disease_name DISEASE_NAME:usp53_related_disorder USP53-related disorder Supplemental_disease_name DISEASE_NAME:usp54_related_disorder USP54-related disorder Supplemental_disease_name DISEASE_NAME:usp7_related_disorder USP7-related disorder Supplemental_disease_name DISEASE_NAME:usp7_related_neurodevelopmental_disorder USP7-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:usp8_related_disorder USP8-related disorder Supplemental_disease_name DISEASE_NAME:usp9x_related_disorder USP9X-related disorder Supplemental_disease_name DISEASE_NAME:usp9x_related_intellectual_developmental_disorder USP9X-related intellectual developmental disorder Supplemental_disease_name DISEASE_NAME:usp9x_related_neurodevelopmental_disorder USP9X-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:usp9y_related_disorder USP9Y-related disorder Supplemental_disease_name DISEASE_NAME:uterine_corpus_endometrioid_carcinoma uterine corpus endometrioid carcinoma Supplemental_disease_name DISEASE_NAME:uterine_leiomyoma_hereditary_leiomyomatosis_and_renal_cell_cancer Uterine leiomyoma;Hereditary leiomyomatosis and renal cell cancer Supplemental_disease_name DISEASE_NAME:uterus_adenocarcinoma Uterus adenocarcinoma Supplemental_disease_name DISEASE_NAME:utp20_related_condition UTP20-related condition Supplemental_disease_name DISEASE_NAME:utp4_related_disorder UTP4-related disorder Supplemental_disease_name DISEASE_NAME:uv_induced_skin_damage UV-induced skin damage Supplemental_disease_name DISEASE_NAME:uv_induced_skin_damage_susceptibility_to UV-induced skin damage, susceptibility to Supplemental_disease_name DISEASE_NAME:uv_sensitive_syndrome_1 UV-sensitive syndrome 1 Supplemental_disease_name DISEASE_NAME:uv_sensitive_syndrome_2 UV-sensitive syndrome 2 Supplemental_disease_name DISEASE_NAME:uv_sensitive_syndrome_2_cockayne_syndrome_type_1 UV-sensitive syndrome 2;Cockayne syndrome type 1 Supplemental_disease_name DISEASE_NAME:uv_sensitive_syndrome_3 UV-sensitive syndrome 3 Supplemental_disease_name DISEASE_NAME:uveal_melanoma_ocular_melanocytosis Uveal melanoma;Ocular melanocytosis Supplemental_disease_name DISEASE_NAME:uvssa_related_disorder UVSSA-related disorder Supplemental_disease_name DISEASE_NAME:vac14_related_disorder VAC14-related disorder Supplemental_disease_name DISEASE_NAME:vacterl_association_x_linked_with_or_without_hydrocephalus_fanconi_anemia_complementation_group_b VACTERL association, X-linked, with or without hydrocephalus;Fanconi anemia complementation group B Supplemental_disease_name DISEASE_NAME:vacterl_association_x_linked_with_or_without_hydrocephalus_heterotaxy_visceral_1_x_linked VACTERL association, X-linked, with or without hydrocephalus;Heterotaxy, visceral, 1, X-linked Supplemental_disease_name DISEASE_NAME:vacterl_with_hydrocephalus VACTERL with hydrocephalus Supplemental_disease_name DISEASE_NAME:vacuolar_neuromyopathy Vacuolar Neuromyopathy Supplemental_disease_name DISEASE_NAME:vamp1_related_disorder VAMP1-related disorder Supplemental_disease_name DISEASE_NAME:vamp2_related_disorder VAMP2-related disorder Supplemental_disease_name DISEASE_NAME:vamp7_related_disorder VAMP7-related disorder Supplemental_disease_name DISEASE_NAME:van_der_woude_syndrome_1 Van der Woude syndrome 1 Supplemental_disease_name DISEASE_NAME:van_der_woude_syndrome_1_autosomal_dominant_popliteal_pterygium_syndrome_orofacial_cleft_6_susceptibility_to Van der Woude syndrome 1;Autosomal dominant popliteal pterygium syndrome;Orofacial cleft 6, susceptibility to Supplemental_disease_name DISEASE_NAME:van_der_woude_syndrome_1_orofacial_cleft_6_susceptibility_to_autosomal_dominant_popliteal_pterygium_syndrome Van der Woude syndrome 1;Orofacial cleft 6, susceptibility to;Autosomal dominant popliteal pterygium syndrome Supplemental_disease_name DISEASE_NAME:van_der_woude_syndrome_2 Van der Woude syndrome 2 Supplemental_disease_name DISEASE_NAME:van_der_woude_syndrome_orofacial_cleft_6_susceptibility_to_popliteal_pterygium_syndrome Van der Woude syndrome;Orofacial cleft 6, susceptibility to;Popliteal pterygium syndrome Supplemental_disease_name DISEASE_NAME:van_der_woude_syndrome_popliteal_pterygium_syndrome_orofacial_cleft_6_susceptibility_to Van der Woude syndrome;Popliteal pterygium syndrome;Orofacial cleft 6, susceptibility to Supplemental_disease_name DISEASE_NAME:van_maldergem_syndrome_1_hennekam_lymphangiectasia_lymphedema_syndrome_1 Van Maldergem syndrome 1;Hennekam lymphangiectasia-lymphedema syndrome 1 Supplemental_disease_name DISEASE_NAME:van_maldergem_syndrome_1_hennekam_lymphangiectasia_lymphedema_syndrome_1_van_maldergem_syndrome_2_hennekam_lymphangiectasia_lymphedema_syndrome_2 Van Maldergem syndrome 1;Hennekam lymphangiectasia-lymphedema syndrome 1;Van Maldergem syndrome 2;Hennekam lymphangiectasia-lymphedema syndrome 2 Supplemental_disease_name DISEASE_NAME:van_maldergem_syndrome_1_mitral_valve_prolapse_myxomatous_2 Van Maldergem syndrome 1;Mitral valve prolapse, myxomatous 2 Supplemental_disease_name DISEASE_NAME:van_maldergem_syndrome_2_hennekam_lymphangiectasia_lymphedema_syndrome_2 Van Maldergem syndrome 2;Hennekam lymphangiectasia-lymphedema syndrome 2 Supplemental_disease_name DISEASE_NAME:vangl1_related_disorder VANGL1-related disorder Supplemental_disease_name DISEASE_NAME:vangl2_related_disorder VANGL2-related disorder Supplemental_disease_name DISEASE_NAME:vanishing_white_matter_disease Vanishing white matter disease Supplemental_disease_name DISEASE_NAME:vanishing_white_matter_disease_ovarioleukodystrophy Vanishing white matter disease;Ovarioleukodystrophy Supplemental_disease_name DISEASE_NAME:vapb_related_disorder VAPB-related disorder Supplemental_disease_name DISEASE_NAME:variable_neurodevelopmental_disorder Variable neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:variant_of_unknown_significance Variant of unknown significance Supplemental_disease_name DISEASE_NAME:varicella_severe_recurrent Varicella, severe recurrent Supplemental_disease_name DISEASE_NAME:varicose_disease Varicose disease Supplemental_disease_name DISEASE_NAME:variegate_porphyria_childhood_onset Variegate porphyria, childhood-onset Supplemental_disease_name DISEASE_NAME:variegate_porphyria_childhood_onset_variegate_porphyria Variegate porphyria, childhood-onset;Variegate porphyria Supplemental_disease_name DISEASE_NAME:vars1_related_disorder VARS1-related disorder Supplemental_disease_name DISEASE_NAME:vars2_related_disorder VARS2-related disorder Supplemental_disease_name DISEASE_NAME:vas_deferens_congenital_bilateral_aplasia_of_x_linked Vas deferens, congenital bilateral aplasia of, X-linked Supplemental_disease_name DISEASE_NAME:vascular_dementia_cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy Vascular dementia;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Supplemental_disease_name DISEASE_NAME:vascular_dilatation Vascular dilatation Supplemental_disease_name DISEASE_NAME:vascular_dilatation_arterial_thrombosis_arterial_tortuosity Vascular dilatation;Arterial thrombosis;Arterial tortuosity Supplemental_disease_name DISEASE_NAME:vascular_dilatation_neurofibroma Vascular dilatation;Neurofibroma Supplemental_disease_name DISEASE_NAME:vascular_disorder Vascular disorder Supplemental_disease_name DISEASE_NAME:vascular_endothelial_growth_factor_vegf_inhibitor_response Vascular endothelial growth factor (VEGF) inhibitor response Supplemental_disease_name DISEASE_NAME:vascular_lesions Vascular lesions Supplemental_disease_name DISEASE_NAME:vascular_malformation Vascular malformation Supplemental_disease_name DISEASE_NAME:vascular_malformations_and_overgrowth Vascular Malformations and Overgrowth Supplemental_disease_name DISEASE_NAME:vascular_parkinsonism_parkinson_disease_parkinsonian_disorder Vascular parkinsonism;Parkinson disease;Parkinsonian disorder Supplemental_disease_name DISEASE_NAME:vascular_parkinsonism_parkinsonian_disorder_parkinson_disease Vascular parkinsonism;Parkinsonian disorder;Parkinson disease Supplemental_disease_name DISEASE_NAME:vascular_skin_disorders Vascular skin disorders Supplemental_disease_name DISEASE_NAME:vascular_tumors_including_pyogenic_granuloma Vascular Tumors Including Pyogenic Granuloma Supplemental_disease_name DISEASE_NAME:vater_association VATER association Supplemental_disease_name DISEASE_NAME:vater_association_with_macrocephaly_and_ventriculomegaly Vater association with macrocephaly and ventriculomegaly Supplemental_disease_name DISEASE_NAME:vater_vacterl_association_with_cns_malformations VATER/VACTERL association with CNS malformations Supplemental_disease_name DISEASE_NAME:vav1_related_disorder VAV1-related disorder Supplemental_disease_name DISEASE_NAME:vax1_related_disorder VAX1-related disorder Supplemental_disease_name DISEASE_NAME:vcan_related_disorder VCAN-related disorder Supplemental_disease_name DISEASE_NAME:vcl_related_disorder VCL-related disorder Supplemental_disease_name DISEASE_NAME:vcp_related_disorder VCP-related disorder Supplemental_disease_name DISEASE_NAME:vcp_related_multisystem_proteinopathy VCP-related multisystem proteinopathy Supplemental_disease_name DISEASE_NAME:vcx3a_related_disorder VCX3A-related disorder Supplemental_disease_name DISEASE_NAME:vdr_related_disorder VDR-related disorder Supplemental_disease_name DISEASE_NAME:vegfa_related_disorder VEGFA-related disorder Supplemental_disease_name DISEASE_NAME:vegfc_related_disorder VEGFC-related disorder Supplemental_disease_name DISEASE_NAME:vein_of_galen_aneurysmal_malformation Vein of Galen aneurysmal malformation Supplemental_disease_name DISEASE_NAME:vein_of_galen_arteriovenous_malformations Vein of Galen arteriovenous malformations Supplemental_disease_name DISEASE_NAME:vel_blood_group_system Vel blood group system Supplemental_disease_name DISEASE_NAME:velocardiofacial_syndrome_conotruncal_heart_malformations_digeorge_syndrome_tetralogy_of_fallot Velocardiofacial syndrome;Conotruncal heart malformations;DiGeorge syndrome;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:velocardiofacial_syndrome_conotruncal_heart_malformations_tetralogy_of_fallot_digeorge_syndrome Velocardiofacial syndrome;Conotruncal heart malformations;Tetralogy of Fallot;DiGeorge syndrome Supplemental_disease_name DISEASE_NAME:velocardiofacial_syndrome_digeorge_syndrome Velocardiofacial syndrome;DiGeorge syndrome Supplemental_disease_name DISEASE_NAME:velocardiofacial_syndrome_digeorge_syndrome_conotruncal_heart_malformations_tetralogy_of_fallot Velocardiofacial syndrome;DiGeorge syndrome;Conotruncal heart malformations;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:velocardiofacial_syndrome_digeorge_syndrome_tetralogy_of_fallot_conotruncal_heart_malformations Velocardiofacial syndrome;DiGeorge syndrome;Tetralogy of Fallot;Conotruncal heart malformations Supplemental_disease_name DISEASE_NAME:venous_malformation Venous malformation Supplemental_disease_name DISEASE_NAME:venous_thromboembolism Venous thromboembolism Supplemental_disease_name DISEASE_NAME:venous_thromboembolism_susceptibility_to Venous thromboembolism, susceptibility to Supplemental_disease_name DISEASE_NAME:venous_thrombosis_protection_against Venous thrombosis, protection against Supplemental_disease_name DISEASE_NAME:venous_thrombosis_susceptibility_to Venous thrombosis, susceptibility to Supplemental_disease_name DISEASE_NAME:ventral_hernia_patent_ductus_arteriosus_abnormality_of_the_face_global_developmental_delay Ventral hernia;Patent ductus arteriosus;Abnormality of the face;Global developmental delay Supplemental_disease_name DISEASE_NAME:ventricular_arrhythmia_right_ventricular_cardiomyopathy Ventricular arrhythmia;Right ventricular cardiomyopathy Supplemental_disease_name DISEASE_NAME:ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Supplemental_disease_name DISEASE_NAME:ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome_arrhythmogenic_right_ventricular_dysplasia_2_catecholaminergic_polymorphic_ventricular_tachycardia_1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome;Arrhythmogenic right ventricular dysplasia 2;Catecholaminergic polymorphic ventricular tachycardia 1 Supplemental_disease_name DISEASE_NAME:ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome_catecholaminergic_polymorphic_ventricular_tachycardia_1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome;Catecholaminergic polymorphic ventricular tachycardia 1 Supplemental_disease_name DISEASE_NAME:ventricular_arrhythmias_due_to_cardiac_ryanodine_receptor_calcium_release_deficiency_syndrome_catecholaminergic_polymorphic_ventricular_tachycardia_1_arrhythmogenic_right_ventricular_dysplasia_2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome;Catecholaminergic polymorphic ventricular tachycardia 1;Arrhythmogenic right ventricular dysplasia 2 Supplemental_disease_name DISEASE_NAME:ventricular_fibrillation Ventricular fibrillation Supplemental_disease_name DISEASE_NAME:ventricular_fibrillation_bicuspid_aortic_valve_cardiac_arrhythmia_sudden_cardiac_death_dilatation_of_aorta Ventricular fibrillation;Bicuspid aortic valve;Cardiac arrhythmia;Sudden cardiac death;Dilatation of aorta Supplemental_disease_name DISEASE_NAME:ventricular_fibrillation_cardiomyopathy Ventricular fibrillation;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:ventricular_fibrillation_paroxysmal_familial_2 Ventricular fibrillation, paroxysmal familial, 2 Supplemental_disease_name DISEASE_NAME:ventricular_fibrillation_paroxysmal_familial_2_intellectual_disability_autosomal_dominant_33 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 Supplemental_disease_name DISEASE_NAME:ventricular_fibrillation_paroxysmal_familial_type_1 Ventricular fibrillation, paroxysmal familial, type 1 Supplemental_disease_name DISEASE_NAME:ventricular_hypertrophy_renal_cyst_polycystic_kidney_disease Ventricular hypertrophy;Renal cyst;Polycystic kidney disease Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_1 Ventricular septal defect 1 Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_1_atrioventricular_septal_defect_4_atrial_septal_defect_2_testicular_anomalies_with_or_without_congenital_heart_disease_tetralogy_of_fallot Ventricular septal defect 1;Atrioventricular septal defect 4;Atrial septal defect 2;Testicular anomalies with or without congenital heart disease;Tetralogy of Fallot Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_1_atrioventricular_septal_defect_4_atrial_septal_defect_2_tetralogy_of_fallot_testicular_anomalies_with_or_without_congenital_heart_disease Ventricular septal defect 1;Atrioventricular septal defect 4;Atrial septal defect 2;Tetralogy of Fallot;Testicular anomalies with or without congenital heart disease Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_2 Ventricular septal defect 2 Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_3 Ventricular septal defect 3 Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_3_atrial_septal_defect_7 Ventricular septal defect 3;Atrial septal defect 7 Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_delayed_speech_and_language_development_atrial_septal_defect Ventricular septal defect;Delayed speech and language development;Atrial septal defect Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_global_developmental_delay_strabismus Ventricular septal defect;Global developmental delay;Strabismus Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_involuntary_movements_abnormal_facial_shape_seizure Ventricular septal defect;Involuntary movements;Abnormal facial shape;Seizure Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_atrial_fibrillation Ventricular tachycardia;Atrial fibrillation Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_cardiomyopathy Ventricular tachycardia;Cardiomyopathy Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_cardiomyopathy_hypertrophic_cardiomyopathy Ventricular tachycardia;Cardiomyopathy;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_catecholaminergic_polymorphic_6 Ventricular tachycardia, catecholaminergic polymorphic 6 Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_congestive_heart_failure Ventricular tachycardia;Congestive heart failure Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_hypertrophic_cardiomyopathy Ventricular tachycardia;Hypertrophic cardiomyopathy Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_hypertrophic_cardiomyopathy_familial_dilated_cardiomyopathy_and_peripheral_neuropathy Ventricular tachycardia;Hypertrophic cardiomyopathy;Familial dilated cardiomyopathy and peripheral neuropathy Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_primary_dilated_cardiomyopathy Ventricular tachycardia;Primary dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_somatic Ventricular tachycardia, somatic Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_supraventricular_tachycardia_brugada_syndrome Ventricular tachycardia;Supraventricular tachycardia;Brugada syndrome Supplemental_disease_name DISEASE_NAME:ventriculomegaly Ventriculomegaly Supplemental_disease_name DISEASE_NAME:ventriculomegaly_abnormal_brainstem_morphology Ventriculomegaly;Abnormal brainstem morphology Supplemental_disease_name DISEASE_NAME:ventriculomegaly_and_arthrogryposis Ventriculomegaly and arthrogryposis Supplemental_disease_name DISEASE_NAME:ventriculomegaly_and_arthrogryposis_spastic_paraplegia_intellectual_disability_nystagmus_and_obesity Ventriculomegaly and arthrogryposis;Spastic paraplegia, intellectual disability, nystagmus, and obesity Supplemental_disease_name DISEASE_NAME:ventriculomegaly_antenatal_intracerebral_hemorrhage Ventriculomegaly;Antenatal intracerebral hemorrhage Supplemental_disease_name DISEASE_NAME:ventriculomegaly_cerebellar_dysplasia_multicystic_kidney_dysplasia_single_umbilical_artery Ventriculomegaly;Cerebellar dysplasia;Multicystic kidney dysplasia;Single umbilical artery Supplemental_disease_name DISEASE_NAME:ventriculomegaly_cerebellar_vermis_hypoplasia Ventriculomegaly;Cerebellar vermis hypoplasia Supplemental_disease_name DISEASE_NAME:ventriculomegaly_cystic_kidney_disease_focal_segmental_glomerulosclerosis_9 Ventriculomegaly-cystic kidney disease;Focal segmental glomerulosclerosis 9 Supplemental_disease_name DISEASE_NAME:ventriculomegaly_hypoplasia_of_the_corpus_callosum Ventriculomegaly;Hypoplasia of the corpus callosum Supplemental_disease_name DISEASE_NAME:ventriculomegaly_multicystic_kidney_dysplasia_intellectual_disability_x_linked_100_hydrocephalus_corpus_callosum_agenesis_of Ventriculomegaly;Multicystic kidney dysplasia;Intellectual disability, X-linked 100;Hydrocephalus;Corpus callosum, agenesis of Supplemental_disease_name DISEASE_NAME:ventriculomegaly_multiple_joint_contractures_generalized_hypotonia_ambiguous_genitalia Ventriculomegaly;Multiple joint contractures;Generalized hypotonia;Ambiguous genitalia Supplemental_disease_name DISEASE_NAME:ventriculomegaly_partial_agenesis_of_the_corpus_callosum Ventriculomegaly;Partial agenesis of the corpus callosum Supplemental_disease_name DISEASE_NAME:ventriculomegaly_polymicrogyria_cerebellar_vermis_hypoplasia Ventriculomegaly;Polymicrogyria;Cerebellar vermis hypoplasia Supplemental_disease_name DISEASE_NAME:ventriculomegaly_seizure Ventriculomegaly;Seizure Supplemental_disease_name DISEASE_NAME:venular_insufficiency_systemic Venular insufficiency, systemic Supplemental_disease_name DISEASE_NAME:verheij_syndrome Verheij syndrome Supplemental_disease_name DISEASE_NAME:verrucous_hemangioma Verrucous hemangioma Supplemental_disease_name DISEASE_NAME:vertebral_cardiac_renal_and_limb_defects_syndrome_1 Vertebral, cardiac, renal, and limb defects syndrome 1 Supplemental_disease_name DISEASE_NAME:vertebral_cardiac_renal_and_limb_defects_syndrome_2 Vertebral, cardiac, renal, and limb defects syndrome 2 Supplemental_disease_name DISEASE_NAME:vertebral_cardiac_renal_and_limb_defects_syndrome_2_hydroxykynureninuria Vertebral, cardiac, renal, and limb defects syndrome 2;Hydroxykynureninuria Supplemental_disease_name DISEASE_NAME:vertebral_cardiac_renal_and_limb_defects_syndrome_3 Vertebral, cardiac, renal, and limb defects syndrome 3 Supplemental_disease_name DISEASE_NAME:vertebral_cardiac_tracheoesophageal_renal_and_limb_defects Vertebral, cardiac, tracheoesophageal, renal, and limb defects Supplemental_disease_name DISEASE_NAME:ververi_brady_syndrome Ververi-Brady syndrome Supplemental_disease_name DISEASE_NAME:ververi_brady_syndrome_1 Ververi-Brady syndrome 1 Supplemental_disease_name DISEASE_NAME:ververi_brady_syndrome_2 Ververi-Brady syndrome 2 Supplemental_disease_name DISEASE_NAME:very_early_onset_inflammatory_bowel_disease Very early onset inflammatory bowel disease Supplemental_disease_name DISEASE_NAME:very_long_chain_fatty_acid_accumulation_penile_hypospadias_seizure_polymicrogyria_global_developmental_delay Very long chain fatty acid accumulation;Penile hypospadias;Seizure;Polymicrogyria;Global developmental delay Supplemental_disease_name DISEASE_NAME:vesicoureteral_reflux_2 Vesicoureteral reflux 2 Supplemental_disease_name DISEASE_NAME:vesicoureteral_reflux_3 Vesicoureteral reflux 3 Supplemental_disease_name DISEASE_NAME:vesicoureteral_reflux_8 Vesicoureteral reflux 8 Supplemental_disease_name DISEASE_NAME:vesicoureteral_reflux_8_ehlers_danlos_syndrome_due_to_tenascin_x_deficiency Vesicoureteral reflux 8;Ehlers-Danlos syndrome due to tenascin-X deficiency Supplemental_disease_name DISEASE_NAME:vesicoureteral_reflux_ehlers_danlos_syndrome_due_to_tenascin_x_deficiency Vesicoureteral reflux;Ehlers-Danlos syndrome due to tenascin-X deficiency Supplemental_disease_name DISEASE_NAME:vesicoureteral_reflux_mild_intellectual_disability_horseshoe_kidney_seizure_plagiocephaly Vesicoureteral reflux;Mild intellectual disability;Horseshoe kidney;Seizure;Plagiocephaly Supplemental_disease_name DISEASE_NAME:vestibular_schwannomas Vestibular schwannomas Supplemental_disease_name DISEASE_NAME:vexas VEXAS Supplemental_disease_name DISEASE_NAME:vexas_syndrome_infantile_onset_x_linked_spinal_muscular_atrophy VEXAS syndrome;Infantile-onset X-linked spinal muscular atrophy Supplemental_disease_name DISEASE_NAME:vezf1_related_disorder VEZF1-related disorder Supplemental_disease_name DISEASE_NAME:vhl_related_disorder VHL-related disorder Supplemental_disease_name DISEASE_NAME:vil1_related_disorder VIL1-related disorder Supplemental_disease_name DISEASE_NAME:vill_related_disorder VILL-related disorder Supplemental_disease_name DISEASE_NAME:vim_related_disorder VIM-related disorder Supplemental_disease_name DISEASE_NAME:vipas39_related_disorder VIPAS39-related disorder Supplemental_disease_name DISEASE_NAME:virus_induced_diabetes Virus-induced diabetes Supplemental_disease_name DISEASE_NAME:visceral_heterotaxy_heterotaxy_visceral_8_autosomal Visceral heterotaxy;Heterotaxy, visceral, 8, autosomal Supplemental_disease_name DISEASE_NAME:visceral_myopathy_1 Visceral myopathy 1 Supplemental_disease_name DISEASE_NAME:visceral_myopathy_1_megacystis_microcolon_intestinal_hypoperistalsis_syndrome_5 Visceral myopathy 1;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 Supplemental_disease_name DISEASE_NAME:visceral_myopathy_2 Visceral myopathy 2 Supplemental_disease_name DISEASE_NAME:visceral_myopathy_2_megacystis_microcolon_intestinal_hypoperistalsis_syndrome_2_aortic_aneurysm_familial_thoracic_4 Visceral myopathy 2;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2;Aortic aneurysm, familial thoracic 4 Supplemental_disease_name DISEASE_NAME:visceral_neuropathy Visceral neuropathy Supplemental_disease_name DISEASE_NAME:visceral_neuropathy_familial Visceral neuropathy, familial Supplemental_disease_name DISEASE_NAME:visceral_neuropathy_familial_1_autosomal_recessive Visceral neuropathy, familial, 1, autosomal recessive Supplemental_disease_name DISEASE_NAME:visceral_neuropathy_familial_1_autosomal_recessive_lethal_congenital_contracture_syndrome_2_erythroleukemia_familial_susceptibility_to Visceral neuropathy, familial, 1, autosomal recessive;Lethal congenital contracture syndrome 2;Erythroleukemia, familial, susceptibility to Supplemental_disease_name DISEASE_NAME:visceral_neuropathy_familial_2_autosomal_recessive Visceral neuropathy, familial, 2, autosomal recessive Supplemental_disease_name DISEASE_NAME:visceral_neuropathy_familial_3_autosomal_dominant Visceral neuropathy, familial, 3, autosomal dominant Supplemental_disease_name DISEASE_NAME:viss_syndrome VISS syndrome Supplemental_disease_name DISEASE_NAME:vissers_bodmer_syndrome_holoprosencephaly_12_with_or_without_pancreatic_agenesis Vissers-Bodmer syndrome;Holoprosencephaly 12 with or without pancreatic agenesis Supplemental_disease_name DISEASE_NAME:visual_hallucination_dementia_auditory_hallucination Visual hallucination;Dementia;Auditory hallucination Supplemental_disease_name DISEASE_NAME:visual_impairment_macular_dystrophy Visual impairment;Macular dystrophy Supplemental_disease_name DISEASE_NAME:visual_impairment_optic_atrophy_optic_neuritis_central_scotoma_optic_neuropathy Visual impairment;Optic atrophy;Optic neuritis;Central scotoma;Optic neuropathy Supplemental_disease_name DISEASE_NAME:visual_impairment_retinal_dystrophy_retinal_pigment_epithelial_atrophy Visual impairment;Retinal dystrophy;Retinal pigment epithelial atrophy Supplemental_disease_name DISEASE_NAME:visual_impairment_rod_cone_dystrophy_retinal_detachment_blurred_vision_central_scotoma Visual impairment;Rod-cone dystrophy;Retinal detachment;Blurred vision;Central scotoma Supplemental_disease_name DISEASE_NAME:visual_loss_glaucoma_posterior_polymorphous_corneal_dystrophy Visual loss;Glaucoma;Posterior polymorphous corneal dystrophy Supplemental_disease_name DISEASE_NAME:vitamin_b12_plasma_level_quantitative_trait_locus_1 VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 Supplemental_disease_name DISEASE_NAME:vitamin_b12_plasma_level_quantitative_trait_locus_1_bombay_phenotype VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1;Bombay phenotype Supplemental_disease_name DISEASE_NAME:vitamin_d_dependent_rickets_type_1 Vitamin D-dependent rickets, type 1 Supplemental_disease_name DISEASE_NAME:vitamin_d_dependent_rickets_type_2 Vitamin D-dependent rickets, type 2 Supplemental_disease_name DISEASE_NAME:vitamin_d_dependent_rickets_type_3 Vitamin D-dependent rickets, type 3 Supplemental_disease_name DISEASE_NAME:vitamin_d_dependent_rickets_type_ii_with_alopecia Vitamin D-dependent rickets type II with alopecia Supplemental_disease_name DISEASE_NAME:vitamin_d_hydroxylation_deficient_rickets_type_1b Vitamin D hydroxylation-deficient rickets, type 1B Supplemental_disease_name DISEASE_NAME:vitamin_k_dependent_clotting_factors_combined_deficiency_of_type_1 Vitamin K-dependent clotting factors, combined deficiency of, type 1 Supplemental_disease_name DISEASE_NAME:vitamin_k_dependent_clotting_factors_combined_deficiency_of_type_1_body_skin_hyperlaxity_due_to_vitamin_k_dependent_coagulation_factor_deficiency Vitamin K-dependent clotting factors, combined deficiency of, type 1;Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Supplemental_disease_name DISEASE_NAME:vitamin_k_dependent_clotting_factors_combined_deficiency_of_type_2 Vitamin K-dependent clotting factors, combined deficiency of, type 2 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_1 Vitelliform macular dystrophy 1 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_1_vitelliform_macular_dystrophy_4 Vitelliform macular dystrophy 1;Vitelliform macular dystrophy 4 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_2 Vitelliform macular dystrophy 2 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_2_autosomal_dominant_vitreoretinochoroidopathy_autosomal_recessive_bestrophinopathy_retinitis_pigmentosa_50 Vitelliform macular dystrophy 2;Autosomal dominant vitreoretinochoroidopathy;Autosomal recessive bestrophinopathy;Retinitis pigmentosa 50 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_2_autosomal_recessive_bestrophinopathy_autosomal_dominant_vitreoretinochoroidopathy_retinitis_pigmentosa_50 Vitelliform macular dystrophy 2;Autosomal recessive bestrophinopathy;Autosomal dominant vitreoretinochoroidopathy;Retinitis pigmentosa 50 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_2_retinitis_pigmentosa_50_autosomal_recessive_bestrophinopathy_autosomal_dominant_vitreoretinochoroidopathy Vitelliform macular dystrophy 2;Retinitis pigmentosa 50;Autosomal recessive bestrophinopathy;Autosomal dominant vitreoretinochoroidopathy Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_3 Vitelliform macular dystrophy 3 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_3_patterned_macular_dystrophy_1_choroidal_dystrophy_central_areolar_2_retinitis_pigmentosa_7 Vitelliform macular dystrophy 3;Patterned macular dystrophy 1;Choroidal dystrophy, central areolar 2;Retinitis pigmentosa 7 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_4 Vitelliform macular dystrophy 4 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_4_benign_concentric_annular_macular_dystrophy Vitelliform macular dystrophy 4;Benign concentric annular macular dystrophy Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_5 Vitelliform macular dystrophy 5 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_5_retinitis_pigmentosa_56 Vitelliform macular dystrophy 5;Retinitis pigmentosa 56 Supplemental_disease_name DISEASE_NAME:vitiligo_associated_multiple_autoimmune_disease_susceptibility_1 Vitiligo-associated multiple autoimmune disease susceptibility 1 Supplemental_disease_name DISEASE_NAME:vitiligo_associated_multiple_autoimmune_disease_susceptibility_1_autoinflammation_with_arthritis_and_dyskeratosis_corneal_intraepithelial_dyskeratosis_palmoplantar_hyperkeratosis_laryngeal_dyskeratosis_syndrome_respiratory_papillomatosis_juvenile_recurrent_congenital Vitiligo-associated multiple autoimmune disease susceptibility 1;Autoinflammation with arthritis and dyskeratosis;Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Respiratory papillomatosis, juvenile recurrent, congenital Supplemental_disease_name DISEASE_NAME:vitiligo_associated_multiple_autoimmune_disease_susceptibility_1_corneal_intraepithelial_dyskeratosis_palmoplantar_hyperkeratosis_laryngeal_dyskeratosis_syndrome_autoinflammation_with_arthritis_and_dyskeratosis_respiratory_papillomatosis_juvenile_recurrent_congenital Vitiligo-associated multiple autoimmune disease susceptibility 1;Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Autoinflammation with arthritis and dyskeratosis;Respiratory papillomatosis, juvenile recurrent, congenital Supplemental_disease_name DISEASE_NAME:vitiligo_associated_multiple_autoimmune_disease_susceptibility_1_respiratory_papillomatosis_juvenile_recurrent_congenital_corneal_intraepithelial_dyskeratosis_palmoplantar_hyperkeratosis_laryngeal_dyskeratosis_syndrome_autoinflammation_with_arthritis_and_dyskeratosis Vitiligo-associated multiple autoimmune disease susceptibility 1;Respiratory papillomatosis, juvenile recurrent, congenital;Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Autoinflammation with arthritis and dyskeratosis Supplemental_disease_name DISEASE_NAME:vitreoretinochoroidopathy Vitreoretinochoroidopathy Supplemental_disease_name DISEASE_NAME:vitreoretinopathy Vitreoretinopathy Supplemental_disease_name DISEASE_NAME:vitreoretinopathy_intervertebral_disc_disorder_epiphyseal_dysplasia_multiple_3 Vitreoretinopathy;Intervertebral disc disorder;Epiphyseal dysplasia, multiple, 3 Supplemental_disease_name DISEASE_NAME:vitreoretinopathy_with_phalangeal_epiphyseal_dysplasia Vitreoretinopathy with phalangeal epiphyseal dysplasia Supplemental_disease_name DISEASE_NAME:vkorc1_related_disorder VKORC1-related disorder Supplemental_disease_name DISEASE_NAME:vldlr_related_disorder VLDLR-related disorder Supplemental_disease_name DISEASE_NAME:vma21_related_disorder VMA21-related disorder Supplemental_disease_name DISEASE_NAME:volatile_anesthetic_hypersensitivity Volatile anesthetic hypersensitivity Supplemental_disease_name DISEASE_NAME:von_hippel_lindau_syndrome_chuvash_polycythemia Von Hippel-Lindau syndrome;Chuvash polycythemia Supplemental_disease_name DISEASE_NAME:von_hippel_lindau_syndrome_chuvash_polycythemia_nonpapillary_renal_cell_carcinoma_pheochromocytoma Von Hippel-Lindau syndrome;Chuvash polycythemia;Nonpapillary renal cell carcinoma;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:von_hippel_lindau_syndrome_chuvash_polycythemia_pheochromocytoma_nonpapillary_renal_cell_carcinoma Von Hippel-Lindau syndrome;Chuvash polycythemia;Pheochromocytoma;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:von_hippel_lindau_syndrome_modifier_of VON HIPPEL-LINDAU SYNDROME, MODIFIER OF Supplemental_disease_name DISEASE_NAME:von_hippel_lindau_syndrome_nonpapillary_renal_cell_carcinoma Von Hippel-Lindau syndrome;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:von_hippel_lindau_syndrome_nonpapillary_renal_cell_carcinoma_chuvash_polycythemia_pheochromocytoma Von Hippel-Lindau syndrome;Nonpapillary renal cell carcinoma;Chuvash polycythemia;Pheochromocytoma Supplemental_disease_name DISEASE_NAME:von_hippel_lindau_syndrome_nonpapillary_renal_cell_carcinoma_pheochromocytoma_chuvash_polycythemia Von Hippel-Lindau syndrome;Nonpapillary renal cell carcinoma;Pheochromocytoma;Chuvash polycythemia Supplemental_disease_name DISEASE_NAME:von_hippel_lindau_syndrome_pheochromocytoma_chuvash_polycythemia_nonpapillary_renal_cell_carcinoma Von Hippel-Lindau syndrome;Pheochromocytoma;Chuvash polycythemia;Nonpapillary renal cell carcinoma Supplemental_disease_name DISEASE_NAME:von_hippel_lindau_syndrome_pheochromocytoma_nonpapillary_renal_cell_carcinoma_chuvash_polycythemia Von Hippel-Lindau syndrome;Pheochromocytoma;Nonpapillary renal cell carcinoma;Chuvash polycythemia Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_1_von_willebrand_disease_type_3 von Willebrand disease type 1;von Willebrand disease type 3 Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_1_von_willebrand_disease_type_3_von_willebrand_disease_type_2 von Willebrand disease type 1;von Willebrand disease type 3;von Willebrand disease type 2 Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_2_von_willebrand_disease_type_1_von_willebrand_disease_type_3 von Willebrand disease type 2;von Willebrand disease type 1;von Willebrand disease type 3 Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_2_von_willebrand_disease_type_3 von Willebrand disease type 2;von Willebrand disease type 3 Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_2_von_willebrand_disease_type_3_von_willebrand_disease_type_1 von Willebrand disease type 2;von Willebrand disease type 3;von Willebrand disease type 1 Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_2a Von Willebrand disease type 2A Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_2a_von_willebrand_disease_type_1_von_willebrand_disease_type_2m Von Willebrand disease type 2A;von Willebrand disease type 1;von Willebrand disease type 2M Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_2b Von Willebrand disease type 2B Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_2m von Willebrand disease type 2M Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_2n von Willebrand disease type 2N Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_3_von_willebrand_disease_type_1 von Willebrand disease type 3;von Willebrand disease type 1 Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_3_von_willebrand_disease_type_1_von_willebrand_disease_type_2 von Willebrand disease type 3;von Willebrand disease type 1;von Willebrand disease type 2 Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_3_von_willebrand_disease_type_2 von Willebrand disease type 3;von Willebrand disease type 2 Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_3_von_willebrand_disease_type_2_von_willebrand_disease_type_1 von Willebrand disease type 3;von Willebrand disease type 2;von Willebrand disease type 1 Supplemental_disease_name DISEASE_NAME:von_willebrand_factor_vicenza von Willebrand factor Vicenza Supplemental_disease_name DISEASE_NAME:vps11_related_disorder VPS11-related disorder Supplemental_disease_name DISEASE_NAME:vps13a_related_disorder VPS13A-related disorder Supplemental_disease_name DISEASE_NAME:vps13a_related_neurodegenerative_disease VPS13A-related neurodegenerative disease Supplemental_disease_name DISEASE_NAME:vps13b_related_disorder VPS13B-related disorder Supplemental_disease_name DISEASE_NAME:vps13c_related_disorder VPS13C-related disorder Supplemental_disease_name DISEASE_NAME:vps13d_related_disorder VPS13D-related disorder Supplemental_disease_name DISEASE_NAME:vps16_associated_disorder VPS16-associated disorder Supplemental_disease_name DISEASE_NAME:vps16_related_disorder VPS16-related disorder Supplemental_disease_name DISEASE_NAME:vps25_related_neurodevelopmental_delay VPS25-related neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:vps26c_related_disorder VPS26C-related disorder Supplemental_disease_name DISEASE_NAME:vps33a_related_disorder VPS33A-related disorder Supplemental_disease_name DISEASE_NAME:vps33b_related_disorder VPS33B-related disorder Supplemental_disease_name DISEASE_NAME:vps35_related_disorder VPS35-related disorder Supplemental_disease_name DISEASE_NAME:vps35l_related_disorder VPS35L-related disorder Supplemental_disease_name DISEASE_NAME:vps37a_related_disorder VPS37A-related disorder Supplemental_disease_name DISEASE_NAME:vps41_related_condition VPS41-related condition Supplemental_disease_name DISEASE_NAME:vps45_related_disorder VPS45-related disorder Supplemental_disease_name DISEASE_NAME:vps4a_related_disorder VPS4A-related disorder Supplemental_disease_name DISEASE_NAME:vps51_related_disorder VPS51-related disorder Supplemental_disease_name DISEASE_NAME:vps53_related_disorder VPS53-related disorder Supplemental_disease_name DISEASE_NAME:vps8_related_disorder VPS8-related disorder Supplemental_disease_name DISEASE_NAME:vrk1_related_disorder VRK1-related disorder Supplemental_disease_name DISEASE_NAME:vrk2_related_epilepsy_syndrome VRK2-related Epilepsy syndrome Supplemental_disease_name DISEASE_NAME:vsig4_related_disorder VSIG4-related disorder Supplemental_disease_name DISEASE_NAME:vsx1_related_disorder VSX1-related disorder Supplemental_disease_name DISEASE_NAME:vsx2_related_disorder VSX2-related disorder Supplemental_disease_name DISEASE_NAME:vsx2_related_microphthalmia VSX2-related Microphthalmia Supplemental_disease_name DISEASE_NAME:vtn_related_disorder VTN-related disorder Supplemental_disease_name DISEASE_NAME:vulvar_adenocarcinoma_of_mammary_gland_type Vulvar adenocarcinoma of mammary gland type Supplemental_disease_name DISEASE_NAME:vulvar_cancer Vulvar cancer Supplemental_disease_name DISEASE_NAME:vwa1_related_disorder VWA1-related disorder Supplemental_disease_name DISEASE_NAME:vwa2_related_disorder VWA2-related disorder Supplemental_disease_name DISEASE_NAME:vwa3b_related_disorder VWA3B-related disorder Supplemental_disease_name DISEASE_NAME:vwf_related_disorder VWF-related disorder Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_2f Waardenburg syndrome 2F Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_rare_genetic_deafness Waardenburg syndrome;Rare genetic deafness Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_1_alveolar_rhabdomyosarcoma_waardenburg_syndrome_type_3_craniofacial_deafness_hand_syndrome Waardenburg syndrome type 1;Alveolar rhabdomyosarcoma;Waardenburg syndrome type 3;Craniofacial-deafness-hand syndrome Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_1_craniofacial_deafness_hand_syndrome_waardenburg_syndrome_type_3 Waardenburg syndrome type 1;Craniofacial-deafness-hand syndrome;Waardenburg syndrome type 3 Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_1_craniofacial_deafness_hand_syndrome_waardenburg_syndrome_type_3_alveolar_rhabdomyosarcoma Waardenburg syndrome type 1;Craniofacial-deafness-hand syndrome;Waardenburg syndrome type 3;Alveolar rhabdomyosarcoma Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_1_waardenburg_syndrome_type_3_craniofacial_deafness_hand_syndrome_alveolar_rhabdomyosarcoma Waardenburg syndrome type 1;Waardenburg syndrome type 3;Craniofacial-deafness-hand syndrome;Alveolar rhabdomyosarcoma Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2 Waardenburg syndrome type 2 Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2a_coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness_melanoma_cutaneous_malignant_susceptibility_to_8_tietz_syndrome Waardenburg syndrome type 2A;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Melanoma, cutaneous malignant, susceptibility to, 8;Tietz syndrome Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2a_melanoma_cutaneous_malignant_susceptibility_to_8_tietz_syndrome Waardenburg syndrome type 2A;Melanoma, cutaneous malignant, susceptibility to, 8;Tietz syndrome Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2a_melanoma_cutaneous_malignant_susceptibility_to_8_tietz_syndrome_coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness Waardenburg syndrome type 2A;Melanoma, cutaneous malignant, susceptibility to, 8;Tietz syndrome;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2a_tietz_syndrome Waardenburg syndrome type 2A;Tietz syndrome Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2a_tietz_syndrome_coloboma_osteopetrosis_microphthalmia_macrocephaly_albinism_and_deafness_melanoma_cutaneous_malignant_susceptibility_to_8 Waardenburg syndrome type 2A;Tietz syndrome;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Melanoma, cutaneous malignant, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2a_tietz_syndrome_melanoma_cutaneous_malignant_susceptibility_to_8 Waardenburg syndrome type 2A;Tietz syndrome;Melanoma, cutaneous malignant, susceptibility to, 8 Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2d Waardenburg syndrome type 2D Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2e_pcwh_syndrome_waardenburg_syndrome_type_4c Waardenburg syndrome type 2E;PCWH syndrome;Waardenburg syndrome type 4C Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2e_waardenburg_syndrome_type_4c Waardenburg syndrome type 2E;Waardenburg syndrome type 4C Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2e_waardenburg_syndrome_type_4c_pcwh_syndrome Waardenburg syndrome type 2E;Waardenburg syndrome type 4C;PCWH syndrome Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2e_with_neurologic_involvement Waardenburg syndrome type 2E, with neurologic involvement Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2e_without_neurologic_involvement Waardenburg syndrome type 2E, without neurologic involvement Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_3_waardenburg_syndrome_type_1 Waardenburg syndrome type 3;Waardenburg syndrome type 1 Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_3_waardenburg_syndrome_type_1_alveolar_rhabdomyosarcoma_craniofacial_deafness_hand_syndrome Waardenburg syndrome type 3;Waardenburg syndrome type 1;Alveolar rhabdomyosarcoma;Craniofacial-deafness-hand syndrome Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_4a_abcd_syndrome_hirschsprung_disease_susceptibility_to_2 Waardenburg syndrome type 4A;ABCD syndrome;Hirschsprung disease, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_4b_hirschsprung_disease_susceptibility_to_4 Waardenburg syndrome type 4B;Hirschsprung disease, susceptibility to, 4 Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_4c_pcwh_syndrome_waardenburg_syndrome_type_2e Waardenburg syndrome type 4C;PCWH syndrome;Waardenburg syndrome type 2E Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_4c_waardenburg_syndrome_type_2e_pcwh_syndrome Waardenburg syndrome type 4C;Waardenburg syndrome type 2E;PCWH syndrome Supplemental_disease_name DISEASE_NAME:wac_related_disorder WAC-related disorder Supplemental_disease_name DISEASE_NAME:wac_related_neurodevelopmental_disorder WAC-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:waddling_gait_decreased_patellar_reflex_proximal_lower_limb_amyotrophy_limb_girdle_muscular_dystrophy_muscular_dystrophy Waddling gait;Decreased patellar reflex;Proximal lower limb amyotrophy;Limb-girdle muscular dystrophy;Muscular dystrophy Supplemental_disease_name DISEASE_NAME:waddling_gait_proximal_lower_limb_amyotrophy_decreased_patellar_reflex_limb_girdle_muscular_dystrophy_muscular_dystrophy Waddling gait;Proximal lower limb amyotrophy;Decreased patellar reflex;Limb-girdle muscular dystrophy;Muscular dystrophy Supplemental_disease_name DISEASE_NAME:wagner_disease Wagner disease Supplemental_disease_name DISEASE_NAME:wagner_disease_retinitis_pigmentosa Wagner disease;Retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:wagner_syndrome Wagner syndrome Supplemental_disease_name DISEASE_NAME:walker_warburg_congenital_muscular_dystrophy Walker-Warburg congenital muscular dystrophy Supplemental_disease_name DISEASE_NAME:walker_warburg_congenital_muscular_dystrophy_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1 Walker-Warburg congenital muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2K;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Supplemental_disease_name DISEASE_NAME:walker_warburg_congenital_muscular_dystrophy_muscular_dystrophy_dystroglycanopathy_congenital_with_intellectual_disability_type_b1_autosomal_recessive_limb_girdle_muscular_dystrophy_type_2k Walker-Warburg congenital muscular dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1;Autosomal recessive limb-girdle muscular dystrophy type 2K Supplemental_disease_name DISEASE_NAME:wapl_related_disorder WAPL-related disorder Supplemental_disease_name DISEASE_NAME:warburg_cinotti_syndrome Warburg-Cinotti syndrome Supplemental_disease_name DISEASE_NAME:warburg_micro_syndrome_1_martsolf_syndrome_2 Warburg micro syndrome 1;Martsolf syndrome 2 Supplemental_disease_name DISEASE_NAME:warburg_micro_syndrome_2_martsolf_syndrome Warburg micro syndrome 2;Martsolf syndrome Supplemental_disease_name DISEASE_NAME:warburg_micro_syndrome_2_martsolf_syndrome_1 Warburg micro syndrome 2;Martsolf syndrome 1 Supplemental_disease_name DISEASE_NAME:warfarin_response Warfarin response Supplemental_disease_name DISEASE_NAME:warfarin_response_dosage warfarin response - Dosage Supplemental_disease_name DISEASE_NAME:warfarin_response_efficacy warfarin response - Efficacy Supplemental_disease_name DISEASE_NAME:warfarin_response_toxicity warfarin response - Toxicity Supplemental_disease_name DISEASE_NAME:warfarin_sensitivity_x_linked Warfarin sensitivity, X-linked Supplemental_disease_name DISEASE_NAME:warfarin_sensitivity_x_linked_hereditary_factor_ix_deficiency_disease_thrombophilia_x_linked_due_to_factor_9_defect Warfarin sensitivity, X-linked;Hereditary factor IX deficiency disease;Thrombophilia, X-linked, due to factor 9 defect Supplemental_disease_name DISEASE_NAME:warfarin_sensitivity_x_linked_thrombophilia_x_linked_due_to_factor_9_defect_hereditary_factor_ix_deficiency_disease Warfarin sensitivity, X-linked;Thrombophilia, X-linked, due to factor 9 defect;Hereditary factor IX deficiency disease Supplemental_disease_name DISEASE_NAME:wars1_related_disorder WARS1-related disorder Supplemental_disease_name DISEASE_NAME:wars2_related_disorder WARS2-related disorder Supplemental_disease_name DISEASE_NAME:warts Warts Supplemental_disease_name DISEASE_NAME:was_related_disorder WAS-related disorder Supplemental_disease_name DISEASE_NAME:wasf1_related_disorder WASF1-related disorder Supplemental_disease_name DISEASE_NAME:wasf1_related_neurodevelopmental_disorder WASF1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:washc4_related_disorder WASHC4-related disorder Supplemental_disease_name DISEASE_NAME:washc5_related_disorder WASHC5-related disorder Supplemental_disease_name DISEASE_NAME:wbp11_related_disorder WBP11-related disorder Supplemental_disease_name DISEASE_NAME:wbp11_spliceosomopathy WBP11 spliceosomopathy Supplemental_disease_name DISEASE_NAME:wbp2_related_disorder WBP2-related disorder Supplemental_disease_name DISEASE_NAME:wdfy3_related_disorder WDFY3-related disorder Supplemental_disease_name DISEASE_NAME:wdfy4_related_disorder WDFY4-related disorder Supplemental_disease_name DISEASE_NAME:wdhd1_related_disorder WDHD1-related disorder Supplemental_disease_name DISEASE_NAME:wdpcp_related_disorder WDPCP-related disorder Supplemental_disease_name DISEASE_NAME:wdr11_related_disorder WDR11-related disorder Supplemental_disease_name DISEASE_NAME:wdr19_related_disorder WDR19-related disorder Supplemental_disease_name DISEASE_NAME:wdr1_deficiency WDR1 deficiency Supplemental_disease_name DISEASE_NAME:wdr1_related_disorder WDR1-related disorder Supplemental_disease_name DISEASE_NAME:wdr26_related_disorder WDR26-related disorder Supplemental_disease_name DISEASE_NAME:wdr35_related_disorder WDR35-related disorder Supplemental_disease_name DISEASE_NAME:wdr36_related_disorder WDR36-related disorder Supplemental_disease_name DISEASE_NAME:wdr37_related_disorder WDR37-related disorder Supplemental_disease_name DISEASE_NAME:wdr44_related_ciliopathy WDR44-related ciliopathy Supplemental_disease_name DISEASE_NAME:wdr44_related_disorder WDR44-related disorder Supplemental_disease_name DISEASE_NAME:wdr44_related_neurodevelopmental_disorder WDR44-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:wdr45_related_disorder WDR45-related disorder Supplemental_disease_name DISEASE_NAME:wdr45b_related_disorder WDR45B-related disorder Supplemental_disease_name DISEASE_NAME:wdr48_related_disorder WDR48-related disorder Supplemental_disease_name DISEASE_NAME:wdr4_related_disorder WDR4-related disorder Supplemental_disease_name DISEASE_NAME:wdr5_related_neurodevelopmental_delay WDR5-related neurodevelopmental delay Supplemental_disease_name DISEASE_NAME:wdr62_related_disorder WDR62-related disorder Supplemental_disease_name DISEASE_NAME:wdr72_related_disorder WDR72-related disorder Supplemental_disease_name DISEASE_NAME:wdr73_related_disorder WDR73-related disorder Supplemental_disease_name DISEASE_NAME:wdr7_related_disorder WDR7-related disorder Supplemental_disease_name DISEASE_NAME:wdr81_related_disorder WDR81-related disorder Supplemental_disease_name DISEASE_NAME:wdtc1_related_disorder WDTC1-related disorder Supplemental_disease_name DISEASE_NAME:weakened_d_expression_by_serology weakened D expression by serology Supplemental_disease_name DISEASE_NAME:weakened_expression_of_d_antigen Weakened expression of D antigen Supplemental_disease_name DISEASE_NAME:weakness_of_facial_musculature Weakness of facial musculature Supplemental_disease_name DISEASE_NAME:webb_dattani_syndrome Webb-Dattani syndrome Supplemental_disease_name DISEASE_NAME:wee1_inhibitor_response Wee1 Inhibitor response Supplemental_disease_name DISEASE_NAME:wee2_related_disorder WEE2-related disorder Supplemental_disease_name DISEASE_NAME:weill_marchesani_4_syndrome_recessive Weill-Marchesani 4 syndrome, recessive Supplemental_disease_name DISEASE_NAME:weill_marchesani_syndrome_2_dominant Weill-Marchesani syndrome 2, dominant Supplemental_disease_name DISEASE_NAME:weill_marchesani_syndrome_3_glaucoma_3_primary_congenital_d_alveolar_capillary_dysplasia_without_misalignment_of_pulmonary_veins_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma Weill-Marchesani syndrome 3;Glaucoma 3, primary congenital, D;Alveolar capillary dysplasia without misalignment of pulmonary veins;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Supplemental_disease_name DISEASE_NAME:weill_marchesani_syndrome_3_glaucoma_3_primary_congenital_d_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma Weill-Marchesani syndrome 3;Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Supplemental_disease_name DISEASE_NAME:weill_marchesani_syndrome_3_glaucoma_3_primary_congenital_d_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_glaucoma_3_primary_infantile_b Weill-Marchesani syndrome 3;Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Glaucoma 3, primary infantile, B Supplemental_disease_name DISEASE_NAME:weill_marchesani_syndrome_3_glaucoma_3_primary_infantile_b_glaucoma_3_primary_congenital_d_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma Weill-Marchesani syndrome 3;Glaucoma 3, primary infantile, B;Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Supplemental_disease_name DISEASE_NAME:weill_marchesani_syndrome_3_microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_glaucoma_3_primary_infantile_b_glaucoma_3_primary_congenital_d Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Glaucoma 3, primary infantile, B;Glaucoma 3, primary congenital, D Supplemental_disease_name DISEASE_NAME:weill_marchesani_syndrome_3_microspherophakia_glaucoma_3_primary_congenital_d Weill-Marchesani syndrome 3;Microspherophakia;Glaucoma 3, primary congenital, D Supplemental_disease_name DISEASE_NAME:weill_marchesani_syndrome_ectopia_lentis_mass_syndrome_congenital_aneurysm_of_ascending_aorta_marfan_syndrome Weill-Marchesani syndrome;Ectopia lentis;MASS syndrome;Congenital aneurysm of ascending aorta;Marfan syndrome Supplemental_disease_name DISEASE_NAME:weiss_kruszka_syndrome Weiss-Kruszka syndrome Supplemental_disease_name DISEASE_NAME:welander_distal_myopathy Welander distal myopathy Supplemental_disease_name DISEASE_NAME:werdnig_hoffmann_disease_spinal_muscular_atrophy_type_ii_spinal_muscular_atrophy_type_iv_kugelberg_welander_disease Werdnig-Hoffmann disease;Spinal muscular atrophy, type II;Spinal muscular atrophy, type IV;Kugelberg-Welander disease Supplemental_disease_name DISEASE_NAME:werdnig_hoffmann_disease_spinal_muscular_atrophy_type_iv_spinal_muscular_atrophy_type_ii_kugelberg_welander_disease Werdnig-Hoffmann disease;Spinal muscular atrophy, type IV;Spinal muscular atrophy, type II;Kugelberg-Welander disease Supplemental_disease_name DISEASE_NAME:west_nile_virus_susceptibility_to West Nile virus, susceptibility to Supplemental_disease_name DISEASE_NAME:west_nile_virus_susceptibility_to_type_1_diabetes_mellitus_22 West Nile virus, susceptibility to;Type 1 diabetes mellitus 22 Supplemental_disease_name DISEASE_NAME:west_syndrome_lennox_gastaut_syndrome West syndrome;Lennox-Gastaut syndrome Supplemental_disease_name DISEASE_NAME:west_syndrome_lennox_gastaut_syndrome_developmental_and_epileptic_encephalopathy_27_intellectual_disability_autosomal_dominant_6 West syndrome;Lennox-Gastaut syndrome;Developmental and epileptic encephalopathy, 27;Intellectual disability, autosomal dominant 6 Supplemental_disease_name DISEASE_NAME:wfs1_related_disorder WFS1-related disorder Supplemental_disease_name DISEASE_NAME:wfs1_related_spectrum_disorders WFS1-Related Spectrum Disorders Supplemental_disease_name DISEASE_NAME:wfs1_spectrum_disorder WFS1 Spectrum Disorder Supplemental_disease_name DISEASE_NAME:white_blood_cell_count_quantitative_trait_locus_1 White blood cell count quantitative trait locus 1 Supplemental_disease_name DISEASE_NAME:white_kernohan_syndrome White-Kernohan syndrome Supplemental_disease_name DISEASE_NAME:whrn_related_disorder WHRN-related disorder Supplemental_disease_name DISEASE_NAME:whsc1_related_disorder WHSC1-related disorder Supplemental_disease_name DISEASE_NAME:wide_nasal_bridge_wide_mouth_short_stature_relative_macrocephaly Wide nasal bridge;Wide mouth;Short stature;Relative macrocephaly Supplemental_disease_name DISEASE_NAME:widened_subarachnoid_space_macrocephaly_mild_global_developmental_delay_developmental_cataract Widened subarachnoid space;Macrocephaly;Mild global developmental delay;Developmental cataract Supplemental_disease_name DISEASE_NAME:wieacker_wolf_syndrome Wieacker-Wolf syndrome Supplemental_disease_name DISEASE_NAME:wieacker_wolff_syndrome_female_restricted Wieacker-Wolff syndrome, female-restricted Supplemental_disease_name DISEASE_NAME:wieacker_wolff_syndrome_female_restricted_wieacker_wolff_syndrome Wieacker-Wolff syndrome, female-restricted;Wieacker-Wolff syndrome Supplemental_disease_name DISEASE_NAME:wieacker_wolff_syndrome_spectrum Wieacker-Wolff syndrome (spectrum) Supplemental_disease_name DISEASE_NAME:wieacker_wolff_syndrome_wieacker_wolff_syndrome_female_restricted Wieacker-Wolff syndrome;Wieacker-Wolff syndrome, female-restricted Supplemental_disease_name DISEASE_NAME:wiedemann_rautenstrauch_like_progeroid_syndrome Wiedemann-Rautenstrauch-like progeroid syndrome Supplemental_disease_name DISEASE_NAME:wiedemann_steiner_syndrome Wiedemann-Steiner syndrome Supplemental_disease_name DISEASE_NAME:wiedemann_steiner_syndrome_congenital_muscular_hypertrophy_cerebral_syndrome Wiedemann-Steiner syndrome;Congenital muscular hypertrophy-cerebral syndrome Supplemental_disease_name DISEASE_NAME:williams_syndrome Williams syndrome Supplemental_disease_name DISEASE_NAME:williams_syndrome_cutis_laxa_autosomal_dominant_1_supravalvar_aortic_stenosis Williams syndrome;Cutis laxa, autosomal dominant 1;Supravalvar aortic stenosis Supplemental_disease_name DISEASE_NAME:williams_syndrome_supravalvar_aortic_stenosis_cutis_laxa_autosomal_dominant_1 Williams syndrome;Supravalvar aortic stenosis;Cutis laxa, autosomal dominant 1 Supplemental_disease_name DISEASE_NAME:wilms_tumor_1 Wilms tumor 1 Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_11p_partial_monosomy_syndrome_drash_syndrome_frasier_syndrome Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome;Frasier syndrome Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_11p_partial_monosomy_syndrome_frasier_syndrome_drash_syndrome Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome;Drash syndrome Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_beckwith_wiedemann_syndrome_silver_russell_syndrome_1_silver_russell_syndrome_3 Wilms tumor 1;Beckwith-Wiedemann syndrome;Silver-Russell syndrome 1;Silver-Russell syndrome 3 Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_drash_syndrome_11p_partial_monosomy_syndrome_frasier_syndrome Wilms tumor 1;Drash syndrome;11p partial monosomy syndrome;Frasier syndrome Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_drash_syndrome_frasier_syndrome_11p_partial_monosomy_syndrome Wilms tumor 1;Drash syndrome;Frasier syndrome;11p partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_frasier_syndrome_11p_partial_monosomy_syndrome_drash_syndrome Wilms tumor 1;Frasier syndrome;11p partial monosomy syndrome;Drash syndrome Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_frasier_syndrome_drash_syndrome Wilms tumor 1;Frasier syndrome;Drash syndrome Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_frasier_syndrome_drash_syndrome_11p_partial_monosomy_syndrome Wilms tumor 1;Frasier syndrome;Drash syndrome;11p partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_silver_russell_syndrome_1_beckwith_wiedemann_syndrome_silver_russell_syndrome_3 Wilms tumor 1;Silver-Russell syndrome 1;Beckwith-Wiedemann syndrome;Silver-Russell syndrome 3 Supplemental_disease_name DISEASE_NAME:wilms_tumor_1_simpson_golabi_behmel_syndrome_type_1 Wilms tumor 1;Simpson-Golabi-Behmel syndrome type 1 Supplemental_disease_name DISEASE_NAME:wilms_tumor_2 Wilms tumor 2 Supplemental_disease_name DISEASE_NAME:wilms_tumor_5 Wilms tumor 5 Supplemental_disease_name DISEASE_NAME:wilms_tumor_6 Wilms tumor 6 Supplemental_disease_name DISEASE_NAME:wilms_tumor_6_autosomal_dominant_nonsyndromic_hearing_loss_27_fibromatosis_gingival_5 Wilms tumor 6;Autosomal dominant nonsyndromic hearing loss 27;Fibromatosis, gingival, 5 Supplemental_disease_name DISEASE_NAME:wilms_tumor_6_fibromatosis_gingival_5_autosomal_dominant_nonsyndromic_hearing_loss_27 Wilms tumor 6;Fibromatosis, gingival, 5;Autosomal dominant nonsyndromic hearing loss 27 Supplemental_disease_name DISEASE_NAME:wilms_tumor_7 Wilms tumor 7 Supplemental_disease_name DISEASE_NAME:wilms_tumor_aniridia_genitourinary_anomalies_intellectual_disability_and_obesity_syndrome Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome Supplemental_disease_name DISEASE_NAME:wilms_tumor_predisposition Wilms Tumor Predisposition Supplemental_disease_name DISEASE_NAME:wilms_tumor_susceptibility Wilms tumor susceptibility Supplemental_disease_name DISEASE_NAME:wipf1_related_disorder WIPF1-related disorder Supplemental_disease_name DISEASE_NAME:wipi1_related_disorder WIPI1-related disorder Supplemental_disease_name DISEASE_NAME:wipi2_related_disorder WIPI2-related disorder Supplemental_disease_name DISEASE_NAME:wiskott_aldrich_syndrome_2 Wiskott-Aldrich syndrome 2 Supplemental_disease_name DISEASE_NAME:wiskott_aldrich_syndrome_attenuated WISKOTT-ALDRICH SYNDROME, ATTENUATED Supplemental_disease_name DISEASE_NAME:wiskott_aldrich_syndrome_thrombocytopenia_1_x_linked_severe_congenital_neutropenia Wiskott-Aldrich syndrome;Thrombocytopenia 1;X-linked severe congenital neutropenia Supplemental_disease_name DISEASE_NAME:wiskott_aldrich_syndrome_x_linked_severe_congenital_neutropenia_thrombocytopenia_1 Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia;Thrombocytopenia 1 Supplemental_disease_name DISEASE_NAME:wls_related_disorder WLS-related disorder Supplemental_disease_name DISEASE_NAME:wls_syndrome WLS syndrome Supplemental_disease_name DISEASE_NAME:wnk1_related_disorder WNK1-related disorder Supplemental_disease_name DISEASE_NAME:wnk2_related_condition WNK2-related condition Supplemental_disease_name DISEASE_NAME:wnk3_related_condition WNK3-related condition Supplemental_disease_name DISEASE_NAME:wnk4_related_disorder WNK4-related disorder Supplemental_disease_name DISEASE_NAME:wnt10a_related_disorder WNT10A-related disorder Supplemental_disease_name DISEASE_NAME:wnt10b_related_disorder WNT10B-related disorder Supplemental_disease_name DISEASE_NAME:wnt11_related_disorder WNT11-related disorder Supplemental_disease_name DISEASE_NAME:wnt1_related_disorder WNT1-related disorder Supplemental_disease_name DISEASE_NAME:wnt2b_related_disorder WNT2B-related disorder Supplemental_disease_name DISEASE_NAME:wnt3_related_disorder WNT3-related disorder Supplemental_disease_name DISEASE_NAME:wnt3a_related_disorder WNT3A-related disorder Supplemental_disease_name DISEASE_NAME:wnt4_related_disorder WNT4-related disorder Supplemental_disease_name DISEASE_NAME:wnt5a_related_disorder WNT5A-related disorder Supplemental_disease_name DISEASE_NAME:wnt7a_related_disoder WNT7A-related disoder Supplemental_disease_name DISEASE_NAME:wnt7a_related_disorder WNT7A-related disorder Supplemental_disease_name DISEASE_NAME:wnt8a_related_disorder WNT8A-related disorder Supplemental_disease_name DISEASE_NAME:wnt9b_related_disorder WNT9B-related disorder Supplemental_disease_name DISEASE_NAME:wolcott_rallison_dysplasia Wolcott-Rallison dysplasia Supplemental_disease_name DISEASE_NAME:wolf_hirschhorn_like_syndrome Wolf-Hirschhorn like syndrome Supplemental_disease_name DISEASE_NAME:wolff_parkinson_white_pattern_highly_elevated_creatine_kinase_pes_cavus_muscular_atrophy_skeletal_myopathy Wolff-Parkinson-White pattern;Highly elevated creatine kinase;Pes cavus;Muscular atrophy;Skeletal myopathy Supplemental_disease_name DISEASE_NAME:wolff_parkinson_white_pattern_hypertrophic_cardiomyopathy_6 Wolff-Parkinson-White pattern;Hypertrophic cardiomyopathy 6 Supplemental_disease_name DISEASE_NAME:wolff_parkinson_white_pattern_hypertrophic_cardiomyopathy_6_lethal_congenital_glycogen_storage_disease_of_heart Wolff-Parkinson-White pattern;Hypertrophic cardiomyopathy 6;Lethal congenital glycogen storage disease of heart Supplemental_disease_name DISEASE_NAME:wolff_parkinson_white_pattern_lethal_congenital_glycogen_storage_disease_of_heart_hypertrophic_cardiomyopathy_6 Wolff-Parkinson-White pattern;Lethal congenital glycogen storage disease of heart;Hypertrophic cardiomyopathy 6 Supplemental_disease_name DISEASE_NAME:wolff_parkinson_white_syndrome_childhood_onset Wolff-Parkinson-White syndrome, childhood-onset Supplemental_disease_name DISEASE_NAME:wolfram_like_disorder Wolfram-like disorder Supplemental_disease_name DISEASE_NAME:wolfram_like_syndrome Wolfram-like syndrome Supplemental_disease_name DISEASE_NAME:wolfram_like_syndrome_autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus_cataract_41_wolfram_syndrome_1 Wolfram-like syndrome;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Cataract 41;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:wolfram_like_syndrome_autosomal_dominant_nonsyndromic_hearing_loss_6_wfs1_related_spectrum_disorders_wolfram_syndrome Wolfram-like syndrome;Autosomal dominant nonsyndromic hearing loss 6;WFS1-Related Spectrum Disorders;Wolfram syndrome Supplemental_disease_name DISEASE_NAME:wolfram_like_syndrome_cataract_41_wolfram_syndrome_1_autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus Wolfram-like syndrome;Cataract 41;Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:wolfram_like_syndrome_wolfram_syndrome_1 Wolfram-like syndrome;Wolfram syndrome 1 Supplemental_disease_name DISEASE_NAME:wolfram_syndrome_1_autosomal_dominant_nonsyndromic_hearing_loss_6 Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6 Supplemental_disease_name DISEASE_NAME:wolfram_syndrome_1_autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus_cataract_41_wolfram_like_syndrome Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Cataract 41;Wolfram-like syndrome Supplemental_disease_name DISEASE_NAME:wolfram_syndrome_1_autosomal_dominant_nonsyndromic_hearing_loss_6_wolfram_like_syndrome Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6;Wolfram-like syndrome Supplemental_disease_name DISEASE_NAME:wolfram_syndrome_1_cataract_41_autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus_wolfram_like_syndrome Wolfram syndrome 1;Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram-like syndrome Supplemental_disease_name DISEASE_NAME:wolfram_syndrome_1_cataract_41_wolfram_like_syndrome_autosomal_dominant_nonsyndromic_hearing_loss_6_type_2_diabetes_mellitus Wolfram syndrome 1;Cataract 41;Wolfram-like syndrome;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:wolfram_syndrome_1_type_2_diabetes_mellitus Wolfram syndrome 1;Type 2 diabetes mellitus Supplemental_disease_name DISEASE_NAME:wolfram_syndrome_1_wolfram_like_syndrome Wolfram syndrome 1;Wolfram-like syndrome Supplemental_disease_name DISEASE_NAME:wolman_disease_cholesteryl_ester_storage_disease Wolman disease;Cholesteryl ester storage disease Supplemental_disease_name DISEASE_NAME:woolly_hair_autosomal_recessive_2_with_or_without_hypotrichosis Woolly hair, autosomal recessive 2, with or without hypotrichosis Supplemental_disease_name DISEASE_NAME:woolly_hair_skin_fragility_syndrome Woolly hair-skin fragility syndrome Supplemental_disease_name DISEASE_NAME:wooly_hair_autosomal_recessive_1_with_or_without_hypotrichosis Wooly hair, autosomal recessive 1, with or without hypotrichosis Supplemental_disease_name DISEASE_NAME:wooly_hair_autosomal_recessive_3 Wooly hair, autosomal recessive 3 Supplemental_disease_name DISEASE_NAME:wooly_hair_nevus Wooly hair nevus Supplemental_disease_name DISEASE_NAME:wooly_hair_palmoplantar_keratoderma_syndrome Wooly hair-palmoplantar keratoderma syndrome Supplemental_disease_name DISEASE_NAME:wooly_hair_palmoplantar_keratoderma_syndrome_nephrotic_syndrome_16 Wooly hair-palmoplantar keratoderma syndrome;Nephrotic syndrome 16 Supplemental_disease_name DISEASE_NAME:worster_drought_syndrome Worster-Drought syndrome Supplemental_disease_name DISEASE_NAME:worth_disease Worth disease Supplemental_disease_name DISEASE_NAME:wrap53_related_disorder WRAP53-related disorder Supplemental_disease_name DISEASE_NAME:wrinkly_skin_syndrome_cutis_laxa_with_osteodystrophy Wrinkly skin syndrome;Cutis laxa with osteodystrophy Supplemental_disease_name DISEASE_NAME:wrn_related_disorder WRN-related disorder Supplemental_disease_name DISEASE_NAME:wrnip1_related_disorder WRNIP1-related disorder Supplemental_disease_name DISEASE_NAME:wsb2_related_disorder WSB2-related disorder Supplemental_disease_name DISEASE_NAME:wt1_related_disorder WT1-related disorder Supplemental_disease_name DISEASE_NAME:wt1_related_wilms_tumor WT1-related Wilms tumor Supplemental_disease_name DISEASE_NAME:wwc3_related_condition WWC3-related condition Supplemental_disease_name DISEASE_NAME:wwox_related_diosrder WWOX-related diosrder Supplemental_disease_name DISEASE_NAME:wwox_related_disorder WWOX-related disorder Supplemental_disease_name DISEASE_NAME:x_inactivation_familial_skewed_1 X inactivation, familial skewed, 1 Supplemental_disease_name DISEASE_NAME:x_linked_acrogigantism_due_to_xq26_microduplication X-linked acrogigantism due to Xq26 microduplication Supplemental_disease_name DISEASE_NAME:x_linked_agammaglobulinemia_with_growth_hormone_deficiency X-linked agammaglobulinemia with growth hormone deficiency Supplemental_disease_name DISEASE_NAME:x_linked_agammaglobulinemia_with_growth_hormone_deficiency_x_linked_agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency;X-linked agammaglobulinemia Supplemental_disease_name DISEASE_NAME:x_linked_agammaglobulinemia_x_linked_agammaglobulinemia_with_growth_hormone_deficiency X-linked agammaglobulinemia;X-linked agammaglobulinemia with growth hormone deficiency Supplemental_disease_name DISEASE_NAME:x_linked_arx_related_disorders X-linked ARX-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_atrx_related_disorders X-linked ATRX-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_bcor_related_disorders X-linked BCOR-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_cacna1f_related_disorders X-linked CACNA1F-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_cardiomyopathies_x_linked_myopathies X-linked cardiomyopathies;X-linked myopathies Supplemental_disease_name DISEASE_NAME:x_linked_cerebral_adrenoleukodystrophy X-linked cerebral adrenoleukodystrophy Supplemental_disease_name DISEASE_NAME:x_linked_cerebral_cerebellar_coloboma_syndrome_syndrome X-linked cerebral-cerebellar-coloboma syndrome syndrome Supplemental_disease_name DISEASE_NAME:x_linked_combined_immunodeficiency X-linked combined immunodeficiency Supplemental_disease_name DISEASE_NAME:x_linked_complex_neurodevelopmental_disorder X-linked complex neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:x_linked_complicated_corpus_callosum_dysgenesis X-linked complicated corpus callosum dysgenesis Supplemental_disease_name DISEASE_NAME:x_linked_complicated_corpus_callosum_dysgenesis_masa_syndrome_x_linked_hydrocephalus_syndrome X-linked complicated corpus callosum dysgenesis;MASA syndrome;X-linked hydrocephalus syndrome Supplemental_disease_name DISEASE_NAME:x_linked_complicated_corpus_callosum_dysgenesis_x_linked_hydrocephalus_syndrome_masa_syndrome X-linked complicated corpus callosum dysgenesis;X-linked hydrocephalus syndrome;MASA syndrome Supplemental_disease_name DISEASE_NAME:x_linked_cone_rod_dystrophy X-linked cone-rod dystrophy Supplemental_disease_name DISEASE_NAME:x_linked_cone_rod_dystrophy_1_retinitis_pigmentosa_3_retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness_macular_degeneration_x_linked_atrophic X-linked cone-rod dystrophy 1;Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness;Macular degeneration, X-linked atrophic Supplemental_disease_name DISEASE_NAME:x_linked_cone_rod_dystrophy_1_retinitis_pigmentosa_x_linked_and_sinorespiratory_infections_with_or_without_deafness_macular_degeneration_x_linked_atrophic_retinitis_pigmentosa_3 X-linked cone-rod dystrophy 1;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness;Macular degeneration, X-linked atrophic;Retinitis pigmentosa 3 Supplemental_disease_name DISEASE_NAME:x_linked_cone_rod_dystrophy_3_aland_island_eye_disease X-linked cone-rod dystrophy 3;Aland island eye disease Supplemental_disease_name DISEASE_NAME:x_linked_cone_rod_dystrophy_3_congenital_stationary_night_blindness_2a X-linked cone-rod dystrophy 3;Congenital stationary night blindness 2A Supplemental_disease_name DISEASE_NAME:x_linked_deletion_syndrome X-linked deletion syndrome Supplemental_disease_name DISEASE_NAME:x_linked_distal_spinal_muscular_atrophy_type_3 X-linked distal spinal muscular atrophy type 3 Supplemental_disease_name DISEASE_NAME:x_linked_distal_spinal_muscular_atrophy_type_3_cutis_laxa_x_linked_menkes_kinky_hair_syndrome X-linked distal spinal muscular atrophy type 3;Cutis laxa, X-linked;Menkes kinky-hair syndrome Supplemental_disease_name DISEASE_NAME:x_linked_distal_spinal_muscular_atrophy_type_3_menkes_kinky_hair_syndrome_cutis_laxa_x_linked X-linked distal spinal muscular atrophy type 3;Menkes kinky-hair syndrome;Cutis laxa, X-linked Supplemental_disease_name DISEASE_NAME:x_linked_dmd_related_disorders X-linked DMD-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_dmd_related_dystrophinopathy X-linked DMD-related dystrophinopathy Supplemental_disease_name DISEASE_NAME:x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Supplemental_disease_name DISEASE_NAME:x_linked_dyserythropoetic_anemia_with_abnormal_platelets_and_neutropenia_down_syndrome_thrombocytopenia_x_linked_with_or_without_dyserythropoietic_anemia_beta_thalassemia_x_linked_thrombocytopenia_syndrome X-linked dyserythropoetic anemia with abnormal platelets and neutropenia;Down syndrome;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;Beta-thalassemia-X-linked thrombocytopenia syndrome Supplemental_disease_name DISEASE_NAME:x_linked_dyserythropoietic_anemia_and_thrombocytopenia X-linked dyserythropoietic anemia and thrombocytopenia Supplemental_disease_name DISEASE_NAME:x_linked_dystonia_parkinsonism_intellectual_disability_x_linked_syndromic_33 X-linked dystonia-parkinsonism;Intellectual disability, X-linked, syndromic 33 Supplemental_disease_name DISEASE_NAME:x_linked_emery_dreifuss_muscular_dystrophy X-linked Emery-Dreifuss muscular dystrophy Supplemental_disease_name DISEASE_NAME:x_linked_erythropoietic_protoporphyria X-linked erythropoietic protoporphyria Supplemental_disease_name DISEASE_NAME:x_linked_erythropoietic_protoporphyria_x_linked_sideroblastic_anemia_1 X-linked erythropoietic protoporphyria;X-linked sideroblastic anemia 1 Supplemental_disease_name DISEASE_NAME:x_linked_flna_related_disorders X-linked FLNA-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_gata1_related_disorders X-linked GATA1-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_hydrocephalus_syndrome X-linked hydrocephalus syndrome Supplemental_disease_name DISEASE_NAME:x_linked_hydrocephalus_syndrome_masa_syndrome_x_linked_complicated_corpus_callosum_dysgenesis X-linked hydrocephalus syndrome;MASA syndrome;X-linked complicated corpus callosum dysgenesis Supplemental_disease_name DISEASE_NAME:x_linked_hydrocephalus_syndrome_x_linked_complicated_corpus_callosum_dysgenesis_masa_syndrome X-linked hydrocephalus syndrome;X-linked complicated corpus callosum dysgenesis;MASA syndrome Supplemental_disease_name DISEASE_NAME:x_linked_ichthyosis_with_steryl_sulfatase_deficiency X-linked ichthyosis with steryl-sulfatase deficiency Supplemental_disease_name DISEASE_NAME:x_linked_immunodeficiency_with_magnesium_defect_epstein_barr_virus_infection_and_neoplasia_congenital_disorder_of_glycosylation_type_icc X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia;Congenital disorder of glycosylation, type ICC Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability X-linked intellectual disability Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_cabezas_type X-linked intellectual disability Cabezas type Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_cantagrel_type X-linked intellectual disability, Cantagrel type Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_cerebellar_hypoplasia_syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_hypotonia_movement_disorder_syndrome X-linked intellectual disability-hypotonia-movement disorder syndrome Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_angelman_syndrome_rett_syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome;Angelman syndrome;Rett syndrome Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_autism_susceptibility_to_x_linked_3 X-linked intellectual disability-psychosis-macroorchidism syndrome;Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_autism_susceptibility_to_x_linked_3_rett_syndrome_syndromic_x_linked_intellectual_disability_lubs_type_severe_neonatal_onset_encephalopathy_with_microcephaly X-linked intellectual disability-psychosis-macroorchidism syndrome;Autism, susceptibility to, X-linked 3;Rett syndrome;Syndromic X-linked intellectual disability Lubs type;Severe neonatal-onset encephalopathy with microcephaly Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_rett_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly_syndromic_x_linked_intellectual_disability_lubs_type_autism_susceptibility_to_x_linked_3 X-linked intellectual disability-psychosis-macroorchidism syndrome;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly_autism_susceptibility_to_x_linked_3_syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome;Severe neonatal-onset encephalopathy with microcephaly;Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;Rett syndrome Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_psychosis_macroorchidism_syndrome_severe_neonatal_onset_encephalopathy_with_microcephaly_syndromic_x_linked_intellectual_disability_lubs_type_rett_syndrome_autism_susceptibility_to_x_linked_3 X-linked intellectual disability-psychosis-macroorchidism syndrome;Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;Rett syndrome;Autism, susceptibility to, X-linked 3 Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_stocco_dos_santos_type X-linked intellectual disability, Stocco dos Santos type Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_syndrome X-linked intellectual disability syndrome Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_van_esch_type_x_linked_reticulate_pigmentary_disorder X-linked intellectual disability, van Esch type;X-linked reticulate pigmentary disorder Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_with_isolated_growth_hormone_deficiency X-linked intellectual disability with isolated growth hormone deficiency Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_with_marfanoid_habitus X-linked intellectual disability with marfanoid habitus Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_with_marfanoid_habitus_blepharophimosis_intellectual_disability_syndrome_mkb_type_fg_syndrome_1 X-linked intellectual disability with marfanoid habitus;Blepharophimosis - intellectual disability syndrome, MKB type;FG syndrome 1 Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_with_marfanoid_habitus_cholestasis_pigmentary_retinopathy_cleft_palate_syndrome_blepharophimosis_intellectual_disability_syndrome_mkb_type_fg_syndrome_1 X-linked intellectual disability with marfanoid habitus;Cholestasis-pigmentary retinopathy-cleft palate syndrome;Blepharophimosis - intellectual disability syndrome, MKB type;FG syndrome 1 Supplemental_disease_name DISEASE_NAME:x_linked_intellectual_disability_with_marfanoid_habitus_fg_syndrome_1_cholestasis_pigmentary_retinopathy_cleft_palate_syndrome_blepharophimosis_intellectual_disability_syndrome_mkb_type X-linked intellectual disability with marfanoid habitus;FG syndrome 1;Cholestasis-pigmentary retinopathy-cleft palate syndrome;Blepharophimosis - intellectual disability syndrome, MKB type Supplemental_disease_name DISEASE_NAME:x_linked_l1cam_related_disorders X-linked L1CAM-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_lissencephaly X-linked lissencephaly Supplemental_disease_name DISEASE_NAME:x_linked_lissencephaly_with_abnormal_genitalia_intellectual_disability_x_linked_with_or_without_seizures_arx_related_corpus_callosum_agenesis_abnormal_genitalia_syndrome_developmental_and_epileptic_encephalopathy_1_partington_syndrome X-linked lissencephaly with abnormal genitalia;Intellectual disability, X-linked, with or without seizures, ARX-related;Corpus callosum agenesis-abnormal genitalia syndrome;Developmental and epileptic encephalopathy, 1;Partington syndrome Supplemental_disease_name DISEASE_NAME:x_linked_lissencephaly_with_abnormal_genitalia_intellectual_disability_x_linked_with_or_without_seizures_arx_related_partington_syndrome_developmental_and_epileptic_encephalopathy_1_corpus_callosum_agenesis_abnormal_genitalia_syndrome X-linked lissencephaly with abnormal genitalia;Intellectual disability, X-linked, with or without seizures, ARX-related;Partington syndrome;Developmental and epileptic encephalopathy, 1;Corpus callosum agenesis-abnormal genitalia syndrome Supplemental_disease_name DISEASE_NAME:x_linked_lissencephaly_with_abnormal_genitalia_partington_syndrome_intellectual_disability_x_linked_with_or_without_seizures_arx_related_corpus_callosum_agenesis_abnormal_genitalia_syndrome_developmental_and_epileptic_encephalopathy_1 X-linked lissencephaly with abnormal genitalia;Partington syndrome;Intellectual disability, X-linked, with or without seizures, ARX-related;Corpus callosum agenesis-abnormal genitalia syndrome;Developmental and epileptic encephalopathy, 1 Supplemental_disease_name DISEASE_NAME:x_linked_lymphoproliferative_disease_due_to_sh2d1a_deficiency X-linked lymphoproliferative disease due to SH2D1A deficiency Supplemental_disease_name DISEASE_NAME:x_linked_lymphoproliferative_disease_due_to_xiap_deficiency X-linked lymphoproliferative disease due to XIAP deficiency Supplemental_disease_name DISEASE_NAME:x_linked_lymphoproliferative_disease_due_to_xiap_deficiency_x_linked_lymphoproliferative_disease_due_to_sh2d1a_deficiency X-linked lymphoproliferative disease due to XIAP deficiency;X-linked lymphoproliferative disease due to SH2D1A deficiency Supplemental_disease_name DISEASE_NAME:x_linked_lymphoproliferative_syndrome X-linked lymphoproliferative syndrome Supplemental_disease_name DISEASE_NAME:x_linked_mecp2_related_disorders X-linked MECP2-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_med12_related_disorder X-linked MED12-related disorder Supplemental_disease_name DISEASE_NAME:x_linked_med12_related_disorders X-linked MED12-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_mendelian_susceptibility_to_mycobacterial_diseases_due_to_cybb_deficiency_granulomatous_disease_chronic_x_linked X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency;Granulomatous disease, chronic, X-linked Supplemental_disease_name DISEASE_NAME:x_linked_mixed_hearing_loss_with_perilymphatic_gusher X-linked mixed hearing loss with perilymphatic gusher Supplemental_disease_name DISEASE_NAME:x_linked_myopathy_with_postural_muscle_atrophy X-linked myopathy with postural muscle atrophy Supplemental_disease_name DISEASE_NAME:x_linked_myopathy_with_postural_muscle_atrophy_myopathy_reducing_body_x_linked_childhood_onset_myopathy_reducing_body_x_linked_early_onset_severe_uruguay_faciocardiomusculoskeletal_syndrome_x_linked_scapuloperoneal_muscular_dystrophy X-linked myopathy with postural muscle atrophy;Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;Uruguay Faciocardiomusculoskeletal syndrome;X-linked scapuloperoneal muscular dystrophy Supplemental_disease_name DISEASE_NAME:x_linked_neurodevelopmental_delay_dysmorphism_and_progressive_neurological_disorder X-linked neurodevelopmental delay, dysmorphism, and progressive neurological disorder Supplemental_disease_name DISEASE_NAME:x_linked_neutropenia_xln X-Linked Neutropenia (XLN) Supplemental_disease_name DISEASE_NAME:x_linked_nhs_related_disorders X-linked NHS-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_nonsyndromic_hearing_loss X-linked nonsyndromic hearing loss Supplemental_disease_name DISEASE_NAME:x_linked_opitz_g_bbb_syndrome X-linked Opitz G/BBB syndrome Supplemental_disease_name DISEASE_NAME:x_linked_osteoporosis_with_fractures X-linked osteoporosis with fractures Supplemental_disease_name DISEASE_NAME:x_linked_otopalatodigital_spectrum_disorders X-linked otopalatodigital spectrum disorders Supplemental_disease_name DISEASE_NAME:x_linked_parkinsonism_spasticity_syndrome_congenital_disorder_of_glycosylation_type_iir_syndromic_x_linked_intellectual_disability_hedera_type X-linked parkinsonism-spasticity syndrome;Congenital disorder of glycosylation, type IIr;Syndromic X-linked intellectual disability Hedera type Supplemental_disease_name DISEASE_NAME:x_linked_parkinsonism_spasticity_syndrome_syndromic_x_linked_intellectual_disability_hedera_type X-linked parkinsonism-spasticity syndrome;Syndromic X-linked intellectual disability Hedera type Supplemental_disease_name DISEASE_NAME:x_linked_phka2_related_disorders X-linked PHKA2-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_recessive_nephrolithiasis_with_renal_failure X-linked recessive nephrolithiasis with renal failure Supplemental_disease_name DISEASE_NAME:x_linked_recessive_nephrolithiasis_with_renal_failure_dent_disease_type_1_hypophosphatemic_rickets_x_linked_recessive_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis X-linked recessive nephrolithiasis with renal failure;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Supplemental_disease_name DISEASE_NAME:x_linked_recessive_nephrolithiasis_with_renal_failure_dent_disease_type_1_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_hypophosphatemic_rickets_x_linked_recessive X-linked recessive nephrolithiasis with renal failure;Dent disease type 1;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Hypophosphatemic rickets, X-linked recessive Supplemental_disease_name DISEASE_NAME:x_linked_recessive_nephrolithiasis_with_renal_failure_hypophosphatemic_rickets_x_linked_recessive_dent_disease_type_1_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis X-linked recessive nephrolithiasis with renal failure;Hypophosphatemic rickets, X-linked recessive;Dent disease type 1;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Supplemental_disease_name DISEASE_NAME:x_linked_recessive_nephrolithiasis_with_renal_failure_hypophosphatemic_rickets_x_linked_recessive_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_dent_disease_type_1 X-linked recessive nephrolithiasis with renal failure;Hypophosphatemic rickets, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1 Supplemental_disease_name DISEASE_NAME:x_linked_recessive_nephrolithiasis_with_renal_failure_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_dent_disease_type_1_hypophosphatemic_rickets_x_linked_recessive X-linked recessive nephrolithiasis with renal failure;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive Supplemental_disease_name DISEASE_NAME:x_linked_recessive_nephrolithiasis_with_renal_failure_proteinuria_low_molecular_weight_with_hypercalciuria_and_nephrocalcinosis_hypophosphatemic_rickets_x_linked_recessive_dent_disease_type_1 X-linked recessive nephrolithiasis with renal failure;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Hypophosphatemic rickets, X-linked recessive;Dent disease type 1 Supplemental_disease_name DISEASE_NAME:x_linked_recessive_seizure_and_neurodevelopmental_deficit X-linked recessive seizure and neurodevelopmental deficit Supplemental_disease_name DISEASE_NAME:x_linked_reticulate_pigmentary_disorder_x_linked_intellectual_disability_van_esch_type X-linked reticulate pigmentary disorder;X-linked intellectual disability, van Esch type Supplemental_disease_name DISEASE_NAME:x_linked_retinitis_pigmentosa X-linked retinitis pigmentosa Supplemental_disease_name DISEASE_NAME:x_linked_rpgr_related_disorders X-linked RPGR-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_scapuloperoneal_muscular_dystrophy X-linked scapuloperoneal muscular dystrophy Supplemental_disease_name DISEASE_NAME:x_linked_scapuloperoneal_muscular_dystrophy_myopathy_reducing_body_x_linked_childhood_onset_myopathy_reducing_body_x_linked_early_onset_severe_x_linked_myopathy_with_postural_muscle_atrophy X-linked scapuloperoneal muscular dystrophy;Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;X-linked myopathy with postural muscle atrophy Supplemental_disease_name DISEASE_NAME:x_linked_scapuloperoneal_muscular_dystrophy_myopathy_reducing_body_x_linked_childhood_onset_myopathy_reducing_body_x_linked_early_onset_severe_x_linked_myopathy_with_postural_muscle_atrophy_uruguay_faciocardiomusculoskeletal_syndrome X-linked scapuloperoneal muscular dystrophy;Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;X-linked myopathy with postural muscle atrophy;Uruguay Faciocardiomusculoskeletal syndrome Supplemental_disease_name DISEASE_NAME:x_linked_severe_combined_immunodeficiency_combined_immunodeficiency_x_linked X-linked severe combined immunodeficiency;Combined immunodeficiency, X-linked Supplemental_disease_name DISEASE_NAME:x_linked_severe_congenital_neutropenia_thrombocytopenia_1_wiskott_aldrich_syndrome X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome Supplemental_disease_name DISEASE_NAME:x_linked_severe_congenital_neutropenia_wiskott_aldrich_syndrome_thrombocytopenia_1 X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome;Thrombocytopenia 1 Supplemental_disease_name DISEASE_NAME:x_linked_sideroblastic_anemia_1 X-linked sideroblastic anemia 1 Supplemental_disease_name DISEASE_NAME:x_linked_spasticity_intellectual_disability_epilepsy_syndrome X-linked spasticity-intellectual disability-epilepsy syndrome Supplemental_disease_name DISEASE_NAME:x_linked_spondyloepimetaphyseal_dysplasia_meester_loeys_syndrome X-linked spondyloepimetaphyseal dysplasia;Meester-Loeys syndrome Supplemental_disease_name DISEASE_NAME:x_linked_stag2_related_disorders X-linked STAG2-related disorders Supplemental_disease_name DISEASE_NAME:x_linked_syndromic_intellectual_disability X-linked syndromic intellectual disability Supplemental_disease_name DISEASE_NAME:x_linked_syndromic_intellectual_disability_nance_horan_syndrome X-linked syndromic intellectual disability;Nance-Horan syndrome Supplemental_disease_name DISEASE_NAME:xdh_related_disorder XDH-related disorder Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_cockayne_syndrome_complex Xeroderma pigmentosum-Cockayne syndrome complex Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_complementation_group_j Xeroderma pigmentosum, complementation group J Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_b_trichothiodystrophy_2_photosensitive Xeroderma pigmentosum group B;Trichothiodystrophy 2, photosensitive Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_d_cerebrooculofacioskeletal_syndrome_2_trichothiodystrophy_1_photosensitive Xeroderma pigmentosum, group D;Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_d_trichothiodystrophy_1_photosensitive_cerebrooculofacioskeletal_syndrome_2 Xeroderma pigmentosum, group D;Trichothiodystrophy 1, photosensitive;Cerebrooculofacioskeletal syndrome 2 Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_f_cockayne_syndrome_fanconi_anemia_complementation_group_q Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_f_fanconi_anemia_complementation_group_q Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_f_fanconi_anemia_complementation_group_q_cockayne_syndrome Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;Cockayne syndrome Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_f_fanconi_anemia_complementation_group_q_xfe_progeroid_syndrome Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;XFE progeroid syndrome Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_f_xfe_progeroid_syndrome_fanconi_anemia_complementation_group_q Xeroderma pigmentosum, group F;XFE progeroid syndrome;Fanconi anemia complementation group Q Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_g_cerebrooculofacioskeletal_syndrome_3 Xeroderma pigmentosum, group G;Cerebrooculofacioskeletal syndrome 3 Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_group_g_cockayne_syndrome Xeroderma pigmentosum group G/Cockayne syndrome Supplemental_disease_name DISEASE_NAME:xeroderma_pigmentosum_type_f_cockayne_syndrome Xeroderma pigmentosum, type F/Cockayne syndrome Supplemental_disease_name DISEASE_NAME:xerosis_and_growth_failure_with_immune_and_pulmonary_dysfunction_syndrome Xerosis and growth failure with immune and pulmonary dysfunction syndrome Supplemental_disease_name DISEASE_NAME:xfe_progeroid_syndrome_fanconi_anemia_complementation_group_q XFE progeroid syndrome;Fanconi anemia complementation group Q Supplemental_disease_name DISEASE_NAME:xfe_progeroid_syndrome_fanconi_anemia_complementation_group_q_xeroderma_pigmentosum_group_f XFE progeroid syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F Supplemental_disease_name DISEASE_NAME:xfe_progeroid_syndrome_xeroderma_pigmentosum_group_f_fanconi_anemia_complementation_group_q XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q Supplemental_disease_name DISEASE_NAME:xg_blood_group_system_xg_a_phenotype XG BLOOD GROUP SYSTEM, Xg(a-) PHENOTYPE Supplemental_disease_name DISEASE_NAME:xiap_related_disorder XIAP-related disorder Supplemental_disease_name DISEASE_NAME:xirp1_related_disorder XIRP1-related disorder Supplemental_disease_name DISEASE_NAME:xirp2_related_disorder XIRP2-related disorder Supplemental_disease_name DISEASE_NAME:xist_related_disorder XIST-related disorder Supplemental_disease_name DISEASE_NAME:xk_related_disorder XK-related disorder Supplemental_disease_name DISEASE_NAME:xk_related_neurodegenerative_disease XK-related neurodegenerative disease Supplemental_disease_name DISEASE_NAME:xkr8_related_condition XKR8-related condition Supplemental_disease_name DISEASE_NAME:xpa_related_disorder XPA-related disorder Supplemental_disease_name DISEASE_NAME:xpc_related_disorder XPC-related disorder Supplemental_disease_name DISEASE_NAME:xpnpep3_related_disorder XPNPEP3-related disorder Supplemental_disease_name DISEASE_NAME:xpo1_associated_neurodevelopmental_disorder XPO1-associated Neurodevelopmental Disorder Supplemental_disease_name DISEASE_NAME:xpo1_related_neurodevelopmental_disorder XPO1-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:xpo5_related_disorder XPO5-related disorder Supplemental_disease_name DISEASE_NAME:xpr1_related_disorder XPR1-related disorder Supplemental_disease_name DISEASE_NAME:xpr1_related_primary_familial_brain_calcification XPR1-related primary familial brain calcification Supplemental_disease_name DISEASE_NAME:xq13q21_duplication Xq13q21 duplication Supplemental_disease_name DISEASE_NAME:xq21_32q23_deletion Xq21.32q23 deletion Supplemental_disease_name DISEASE_NAME:xq25_microduplication_syndrome Xq25 microduplication syndrome Supplemental_disease_name DISEASE_NAME:xq28_related_immunodeficiency Xq28 related immunodeficiency Supplemental_disease_name DISEASE_NAME:xrcc1_related_disorder XRCC1-related disorder Supplemental_disease_name DISEASE_NAME:xrcc2_related_disorder XRCC2-related disorder Supplemental_disease_name DISEASE_NAME:xrcc3_related_disorder XRCC3-related disorder Supplemental_disease_name DISEASE_NAME:xrcc4_related_disorder XRCC4-related disorder Supplemental_disease_name DISEASE_NAME:xylt1_related_disorder XYLT1-related disorder Supplemental_disease_name DISEASE_NAME:xylt2_related_disorder XYLT2-related disorder Supplemental_disease_name DISEASE_NAME:yao_syndrome Yao syndrome Supplemental_disease_name DISEASE_NAME:yao_syndrome_blau_syndrome_inflammatory_bowel_disease_1 Yao syndrome;Blau syndrome;Inflammatory bowel disease 1 Supplemental_disease_name DISEASE_NAME:yao_syndrome_inflammatory_bowel_disease_1_blau_syndrome Yao syndrome;Inflammatory bowel disease 1;Blau syndrome Supplemental_disease_name DISEASE_NAME:yao_syndrome_inflammatory_bowel_disease_1_blau_syndrome_psoriatic_arthritis_susceptibility_to Yao syndrome;Inflammatory bowel disease 1;Blau syndrome;Psoriatic arthritis, susceptibility to Supplemental_disease_name DISEASE_NAME:yao_syndrome_psoriatic_arthritis_susceptibility_to_inflammatory_bowel_disease_1_blau_syndrome Yao syndrome;Psoriatic arthritis, susceptibility to;Inflammatory bowel disease 1;Blau syndrome Supplemental_disease_name DISEASE_NAME:yap1_related_disorder YAP1-related disorder Supplemental_disease_name DISEASE_NAME:yars1_related_disorder YARS1-related disorder Supplemental_disease_name DISEASE_NAME:yars2_related_disorder YARS2-related disorder Supplemental_disease_name DISEASE_NAME:ybx1_related_disorder YBX1-related disorder Supplemental_disease_name DISEASE_NAME:yeats2_related_disorder YEATS2-related disorder Supplemental_disease_name DISEASE_NAME:yif1b_related_condition YIF1B-related condition Supplemental_disease_name DISEASE_NAME:yme1l1_related_disorder YME1L1-related disorder Supplemental_disease_name DISEASE_NAME:yolk_sac_tumor_and_high_grade_immature_teratoma YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA Supplemental_disease_name DISEASE_NAME:you_hoover_fong_syndrome You-Hoover-Fong syndrome Supplemental_disease_name DISEASE_NAME:ypel3_related_condition YPEL3-related condition Supplemental_disease_name DISEASE_NAME:yrdc_related_disorder YRDC-related disorder Supplemental_disease_name DISEASE_NAME:yt_blood_group_polymorphism YT BLOOD GROUP POLYMORPHISM Supplemental_disease_name DISEASE_NAME:ythdc1_related_disorder YTHDC1-related disorder Supplemental_disease_name DISEASE_NAME:ythdc2_related_disorder YTHDC2-related disorder Supplemental_disease_name DISEASE_NAME:ythdf3_related_disorder YTHDF3-related disorder Supplemental_disease_name DISEASE_NAME:yuksel_vogel_bauer_syndrome Yuksel-Vogel-Bauer syndrome Supplemental_disease_name DISEASE_NAME:yunis_varon_syndrome_amyotrophic_lateral_sclerosis_type_11_charcot_marie_tooth_disease_type_4j_bilateral_parasagittal_parieto_occipital_polymicrogyria Yunis-Varon syndrome;Amyotrophic lateral sclerosis type 11;Charcot-Marie-Tooth disease type 4J;Bilateral parasagittal parieto-occipital polymicrogyria Supplemental_disease_name DISEASE_NAME:yunis_varon_syndrome_bilateral_parasagittal_parieto_occipital_polymicrogyria Yunis-Varon syndrome;Bilateral parasagittal parieto-occipital polymicrogyria Supplemental_disease_name DISEASE_NAME:yunis_varon_syndrome_charcot_marie_tooth_disease_type_4j Yunis-Varon syndrome;Charcot-Marie-Tooth disease type 4J Supplemental_disease_name DISEASE_NAME:yunis_varon_syndrome_charcot_marie_tooth_disease_type_4j_bilateral_parasagittal_parieto_occipital_polymicrogyria_amyotrophic_lateral_sclerosis_type_11 Yunis-Varon syndrome;Charcot-Marie-Tooth disease type 4J;Bilateral parasagittal parieto-occipital polymicrogyria;Amyotrophic lateral sclerosis type 11 Supplemental_disease_name DISEASE_NAME:ywhae_associated_disorder YWHAE-associated disorder Supplemental_disease_name DISEASE_NAME:ywhae_related_disorder YWHAE-related disorder Supplemental_disease_name DISEASE_NAME:ywhag_related_disorder YWHAG-related disorder Supplemental_disease_name DISEASE_NAME:ywhaz_related_disorder YWHAZ-related disorder Supplemental_disease_name DISEASE_NAME:ywhaz_related_neurodevelopmental_syndrome YWHAZ-related neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:yy1_related_disorder YY1-related disorder Supplemental_disease_name DISEASE_NAME:yy1ap1_related_disorder YY1AP1-related disorder Supplemental_disease_name DISEASE_NAME:zap70_related_disorder ZAP70-related disorder Supplemental_disease_name DISEASE_NAME:zbtb11_related_disorder ZBTB11-related disorder Supplemental_disease_name DISEASE_NAME:zbtb12_related_disorder ZBTB12-related disorder Supplemental_disease_name DISEASE_NAME:zbtb16_related_disorder ZBTB16-related disorder Supplemental_disease_name DISEASE_NAME:zbtb17_related_disorder ZBTB17-related disorder Supplemental_disease_name DISEASE_NAME:zbtb18_related_disorder ZBTB18-related disorder Supplemental_disease_name DISEASE_NAME:zbtb18_related_intellectual_disability ZBTB18-related intellectual disability Supplemental_disease_name DISEASE_NAME:zbtb20_related_disorder ZBTB20-related disorder Supplemental_disease_name DISEASE_NAME:zbtb24_related_disorder ZBTB24-related disorder Supplemental_disease_name DISEASE_NAME:zbtb25_related_disorder ZBTB25-related disorder Supplemental_disease_name DISEASE_NAME:zbtb39_related_condition ZBTB39-related condition Supplemental_disease_name DISEASE_NAME:zbtb40_related_disorder ZBTB40-related disorder Supplemental_disease_name DISEASE_NAME:zbtb42_related_disorder ZBTB42-related disorder Supplemental_disease_name DISEASE_NAME:zbtb45_related_condition ZBTB45-related condition Supplemental_disease_name DISEASE_NAME:zbtb47_related_condition ZBTB47-related condition Supplemental_disease_name DISEASE_NAME:zbtb47_related_disorder ZBTB47-related disorder Supplemental_disease_name DISEASE_NAME:zbtb7a_related_disorder ZBTB7A-related disorder Supplemental_disease_name DISEASE_NAME:zc3h14_related_disorder ZC3H14-related disorder Supplemental_disease_name DISEASE_NAME:zc3h4_related_disorder ZC3H4-related disorder Supplemental_disease_name DISEASE_NAME:zc4h2_related_disorder ZC4H2-related disorder Supplemental_disease_name DISEASE_NAME:zc4h2_related_x_linked_intellectual_disability ZC4H2-related X-linked intellectual disability Supplemental_disease_name DISEASE_NAME:zcchc12_related_disorder ZCCHC12-related disorder Supplemental_disease_name DISEASE_NAME:zcchc13_related_disorder ZCCHC13-related disorder Supplemental_disease_name DISEASE_NAME:zcchc8_related_disorder ZCCHC8-related disorder Supplemental_disease_name DISEASE_NAME:zdhhc15_related_condition ZDHHC15-related condition Supplemental_disease_name DISEASE_NAME:zdhhc16_related_disorder ZDHHC16-related disorder Supplemental_disease_name DISEASE_NAME:zdhhc9_related_disorder ZDHHC9-related disorder Supplemental_disease_name DISEASE_NAME:zeb1_related_disorder ZEB1-related disorder Supplemental_disease_name DISEASE_NAME:zeb2_related_disorder ZEB2-related disorder Supplemental_disease_name DISEASE_NAME:zellweger_spectrum_disorders Zellweger spectrum disorders Supplemental_disease_name DISEASE_NAME:zfhx2_related_disorder ZFHX2-related disorder Supplemental_disease_name DISEASE_NAME:zfhx3_associated_disorder ZFHX3-associated disorder Supplemental_disease_name DISEASE_NAME:zfhx3_associated_neurodevelopmental_disorder ZFHX3-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:zfhx3_related_disorder ZFHX3-related disorder Supplemental_disease_name DISEASE_NAME:zfhx4_associated_neurodevelopmental_disorder ZFHX4-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:zfhx4_related_disorder ZFHX4-related disorder Supplemental_disease_name DISEASE_NAME:zfhx4_related_syndrome ZFHX4-related syndrome Supplemental_disease_name DISEASE_NAME:zfp36l2_related_disorder ZFP36L2-related disorder Supplemental_disease_name DISEASE_NAME:zfp57_related_disorder ZFP57-related disorder Supplemental_disease_name DISEASE_NAME:zfp92_related_disorder ZFP92-related disorder Supplemental_disease_name DISEASE_NAME:zfpm2_related_disorder ZFPM2-related disorder Supplemental_disease_name DISEASE_NAME:zfr_related_disorder ZFR-related disorder Supplemental_disease_name DISEASE_NAME:zfyve19_related_disorder ZFYVE19-related disorder Supplemental_disease_name DISEASE_NAME:zfyve26_related_disorder ZFYVE26-related disorder Supplemental_disease_name DISEASE_NAME:zfyve27_related_disorder ZFYVE27-related disorder Supplemental_disease_name DISEASE_NAME:zhx3_related_disorder ZHX3-related disorder Supplemental_disease_name DISEASE_NAME:zic1_related_disorder ZIC1-related disorder Supplemental_disease_name DISEASE_NAME:zic2_related_disorder ZIC2-related disorder Supplemental_disease_name DISEASE_NAME:zic3_related_disorder ZIC3-related disorder Supplemental_disease_name DISEASE_NAME:ziegler_huang_syndrome Ziegler-Huang syndrome Supplemental_disease_name DISEASE_NAME:zimmermann_laband_syndrome Zimmermann-Laband syndrome Supplemental_disease_name DISEASE_NAME:zimmermann_laband_syndrome_1 Zimmermann-Laband syndrome 1 Supplemental_disease_name DISEASE_NAME:zimmermann_laband_syndrome_1_temple_baraitser_syndrome Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome Supplemental_disease_name DISEASE_NAME:zimmermann_laband_syndrome_2 Zimmermann-Laband syndrome 2 Supplemental_disease_name DISEASE_NAME:zimmermann_laband_syndrome_2_autosomal_dominant_deafness_onychodystrophy_syndrome Zimmermann-Laband syndrome 2;Autosomal dominant deafness - onychodystrophy syndrome Supplemental_disease_name DISEASE_NAME:zimmermann_laband_syndrome_3 Zimmermann-Laband syndrome 3 Supplemental_disease_name DISEASE_NAME:zimmermann_laband_syndrome_with_epileptic_encephalopathy Zimmermann-Laband syndrome with epileptic encephalopathy Supplemental_disease_name DISEASE_NAME:zinc_deficiency_transient_neonatal Zinc deficiency, transient neonatal Supplemental_disease_name DISEASE_NAME:zmiz1_related_disorder ZMIZ1-related disorder Supplemental_disease_name DISEASE_NAME:zmpste24_related_disorder ZMPSTE24-related disorder Supplemental_disease_name DISEASE_NAME:zmym2_associated_disorder ZMYM2-associated disorder Supplemental_disease_name DISEASE_NAME:zmym2_related_disorder ZMYM2-related disorder Supplemental_disease_name DISEASE_NAME:zmym2_related_neurodevelopmental_disorder_with_multiple_anomalies ZMYM2-related neurodevelopmental disorder with multiple anomalies Supplemental_disease_name DISEASE_NAME:zmym3_related_disorder ZMYM3-related disorder Supplemental_disease_name DISEASE_NAME:zmym6_related_disorder ZMYM6-related disorder Supplemental_disease_name DISEASE_NAME:zmynd10_related_disorder ZMYND10-related disorder Supplemental_disease_name DISEASE_NAME:zmynd11_related_disorder ZMYND11-related disorder Supplemental_disease_name DISEASE_NAME:zmynd11_related_neurodevelopmental_disorder_with_multiple_anomalies ZMYND11-related neurodevelopmental disorder with multiple anomalies Supplemental_disease_name DISEASE_NAME:zmynd15_related_disorder ZMYND15-related disorder Supplemental_disease_name DISEASE_NAME:zmynd8_associated_neurodevelopmental_disorder ZMYND8-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:zmynd8_related_disorder ZMYND8-related disorder Supplemental_disease_name DISEASE_NAME:znf141_related_disorder ZNF141-related disorder Supplemental_disease_name DISEASE_NAME:znf142_related_disorder ZNF142-related disorder Supplemental_disease_name DISEASE_NAME:znf143_related_disorder ZNF143-related disorder Supplemental_disease_name DISEASE_NAME:znf148_related_disorder ZNF148-related disorder Supplemental_disease_name DISEASE_NAME:znf17_related_disorder ZNF17-related disorder Supplemental_disease_name DISEASE_NAME:znf264_related_disorder ZNF264-related disorder Supplemental_disease_name DISEASE_NAME:znf292_related_disorder ZNF292-related disorder Supplemental_disease_name DISEASE_NAME:znf292_related_neurodevelopmental_condition ZNF292-related neurodevelopmental condition Supplemental_disease_name DISEASE_NAME:znf331_deletion ZNF331 deletion Supplemental_disease_name DISEASE_NAME:znf335_related_disorder ZNF335-related disorder Supplemental_disease_name DISEASE_NAME:znf341_related_disorder ZNF341-related disorder Supplemental_disease_name DISEASE_NAME:znf407_related_disorder ZNF407-related disorder Supplemental_disease_name DISEASE_NAME:znf408_related_disorder ZNF408-related disorder Supplemental_disease_name DISEASE_NAME:znf41_related_disorder ZNF41-related disorder Supplemental_disease_name DISEASE_NAME:znf423_related_disorder ZNF423-related disorder Supplemental_disease_name DISEASE_NAME:znf462_related_disorder ZNF462-related disorder Supplemental_disease_name DISEASE_NAME:znf469_related_disorder ZNF469-related disorder Supplemental_disease_name DISEASE_NAME:znf496_related_disorder ZNF496-related disorder Supplemental_disease_name DISEASE_NAME:znf512b_related_disorder ZNF512B-related disorder Supplemental_disease_name DISEASE_NAME:znf513_related_disorder ZNF513-related disorder Supplemental_disease_name DISEASE_NAME:znf526_related_disorder ZNF526-related disorder Supplemental_disease_name DISEASE_NAME:znf582_related_disorder ZNF582-related disorder Supplemental_disease_name DISEASE_NAME:znf589_related_disorder ZNF589-related disorder Supplemental_disease_name DISEASE_NAME:znf592_related_disorder ZNF592-related disorder Supplemental_disease_name DISEASE_NAME:znf644_related_disorder ZNF644-related disorder Supplemental_disease_name DISEASE_NAME:znf668_related_disorder ZNF668-related disorder Supplemental_disease_name DISEASE_NAME:znf674_related_disorder ZNF674-related disorder Supplemental_disease_name DISEASE_NAME:znf687_related_disorder ZNF687-related disorder Supplemental_disease_name DISEASE_NAME:znf699_related_disorder ZNF699-related disorder Supplemental_disease_name DISEASE_NAME:znf711_related_disorder ZNF711-related disorder Supplemental_disease_name DISEASE_NAME:znf750_related_disorder ZNF750-related disorder Supplemental_disease_name DISEASE_NAME:znf804a_related_disorder ZNF804A-related disorder Supplemental_disease_name DISEASE_NAME:znf81_related_disorder ZNF81-related disorder Supplemental_disease_name DISEASE_NAME:znf865_related_disorder ZNF865-related disorder Supplemental_disease_name DISEASE_NAME:znfx1_related_disorder ZNFX1-related disorder Supplemental_disease_name DISEASE_NAME:znhit3_related_disorder ZNHIT3-related disorder Supplemental_disease_name DISEASE_NAME:znrf3_associated_neurodevelopmental_disorder ZNRF3-associated neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:znrf3_related_disorder ZNRF3-related disorder Supplemental_disease_name DISEASE_NAME:zp1_related_disorder ZP1-related disorder Supplemental_disease_name DISEASE_NAME:zp2_related_disorder ZP2-related disorder Supplemental_disease_name DISEASE_NAME:zp3_related_disorder ZP3-related disorder Supplemental_disease_name DISEASE_NAME:zpbp_related_disorder ZPBP-related disorder Supplemental_disease_name DISEASE_NAME:zrsr2_related_disorder ZRSR2-related disorder Supplemental_disease_name DISEASE_NAME:zscan29_related_disorder ZSCAN29-related disorder Supplemental_disease_name DISEASE_NAME:zswim6_related_disorder ZSWIM6-related disorder Supplemental_disease_name DISEASE_NAME:zswim6_related_intellectual_disability ZSWIM6 related intellectual disability Supplemental_disease_name DISEASE_NAME:zyg11b_related_disorder ZYG11B-related disorder Supplemental_disease_name DOID:0001816 DOID:0001816 angiosarcoma Disease_Ontology DOID:0002116 DOID:0002116 pterygium Disease_Ontology DOID:0014667 DOID:0014667 disease of metabolism Disease_Ontology DOID:0040001 DOID:0040001 shrimp allergy Disease_Ontology DOID:0040002 DOID:0040002 aspirin allergy Disease_Ontology DOID:0040003 DOID:0040003 benzylpenicillin allergy Disease_Ontology DOID:0040004 DOID:0040004 amoxicillin allergy Disease_Ontology DOID:0040005 DOID:0040005 ceftriaxone allergy Disease_Ontology DOID:0040006 DOID:0040006 carbamazepine allergy Disease_Ontology DOID:0040007 DOID:0040007 abacavir allergy Disease_Ontology DOID:0040008 DOID:0040008 isoniazide allergy Disease_Ontology DOID:0040009 DOID:0040009 lidocaine allergy Disease_Ontology DOID:0040010 DOID:0040010 mepivacaine allergy Disease_Ontology DOID:0040011 DOID:0040011 phenobarbital allergy Disease_Ontology DOID:0040012 DOID:0040012 phenytoin allergy Disease_Ontology DOID:0040013 DOID:0040013 ranitidine allergy Disease_Ontology DOID:0040014 DOID:0040014 corticosteroid allergy Disease_Ontology DOID:0040015 DOID:0040015 sulfonamide allergy Disease_Ontology DOID:0040016 DOID:0040016 sulfamethoxazole allergy Disease_Ontology DOID:0040017 DOID:0040017 suprofen allergy Disease_Ontology DOID:0040018 DOID:0040018 thiopental allergy Disease_Ontology DOID:0040019 DOID:0040019 D-mannitol allergy Disease_Ontology DOID:0040020 DOID:0040020 cefotaxime allergy Disease_Ontology DOID:0040021 DOID:0040021 cephalosporin allergy Disease_Ontology DOID:0040022 DOID:0040022 amodiaquine allergy Disease_Ontology DOID:0040023 DOID:0040023 cefaclor allergy Disease_Ontology DOID:0040024 DOID:0040024 ceftazidime allergy Disease_Ontology DOID:0040025 DOID:0040025 cefuroxime allergy Disease_Ontology DOID:0040026 DOID:0040026 chlorhexidine allergy Disease_Ontology DOID:0040027 DOID:0040027 cyclophosphamide allergy Disease_Ontology DOID:0040028 DOID:0040028 succinylcholine allergy Disease_Ontology DOID:0040029 DOID:0040029 trimethoprim allergy Disease_Ontology DOID:0040030 DOID:0040030 cefixime allergy Disease_Ontology DOID:0040031 DOID:0040031 diclofenac allergy Disease_Ontology DOID:0040032 DOID:0040032 carbapenem allergy Disease_Ontology DOID:0040033 DOID:0040033 piperacillin allergy Disease_Ontology DOID:0040034 DOID:0040034 rocuronium allergy Disease_Ontology DOID:0040035 DOID:0040035 sulfasalazine allergy Disease_Ontology DOID:0040036 DOID:0040036 tubocurarine allergy Disease_Ontology DOID:0040037 DOID:0040037 aztreonam allergy Disease_Ontology DOID:0040038 DOID:0040038 meropenem allergy Disease_Ontology DOID:0040040 DOID:0040040 hexamethylene diisocyanate allergic asthma Disease_Ontology DOID:0040041 DOID:0040041 isocyanates allergic asthma Disease_Ontology DOID:0040042 DOID:0040042 diphenylmethane-4,4'-diisocyanate allergic asthma Disease_Ontology DOID:0040043 DOID:0040043 toluene meta-diisocyanate allergic asthma Disease_Ontology DOID:0040044 DOID:0040044 methyl isocyanate allergic asthma Disease_Ontology DOID:0040045 DOID:0040045 nickel allergic asthma Disease_Ontology DOID:0040046 DOID:0040046 nickel allergic contact dermatitis Disease_Ontology DOID:0040047 DOID:0040047 trimellitic anhydride allergic asthma Disease_Ontology DOID:0040048 DOID:0040048 phthalic anhydride allergic asthma Disease_Ontology DOID:0040049 DOID:0040049 maleic anhydride allergic asthma Disease_Ontology DOID:0040050 DOID:0040050 tetrachlorophthalic anhydride allergic asthma Disease_Ontology DOID:0040051 DOID:0040051 hexahydrophthalic anhydride allergic asthma Disease_Ontology DOID:0040052 DOID:0040052 diphenylmethane-4,4'-diisocyanate allergic contact dermatitis Disease_Ontology DOID:0040053 DOID:0040053 cobalt allergic contact dermatitis Disease_Ontology DOID:0040054 DOID:0040054 cobalt allergic asthma Disease_Ontology DOID:0040055 DOID:0040055 palladium allergic contact dermatitis Disease_Ontology DOID:0040056 DOID:0040056 chromium allergic contact dermatitis Disease_Ontology DOID:0040057 DOID:0040057 benzoic acid allergic contact dermatitis Disease_Ontology DOID:0040058 DOID:0040058 1,4-phenylenediamine allergic contact dermatitis Disease_Ontology DOID:0040059 DOID:0040059 potassium dichromate allergic contact dermatitis Disease_Ontology DOID:0040060 DOID:0040060 ketoprofen photoallergic dermatitis Disease_Ontology DOID:0040061 DOID:0040061 remazole black respiratory allergy Disease_Ontology DOID:0040062 DOID:0040062 chloramine T respiratory allergy Disease_Ontology DOID:0040063 DOID:0040063 4-vinylcyclohexene dioxide respiratory allergy Disease_Ontology DOID:0040064 DOID:0040064 carvone allergic contact dermatitis Disease_Ontology DOID:0040065 DOID:0040065 quinidine allergy Disease_Ontology DOID:0040066 DOID:0040066 melphalan allergy Disease_Ontology DOID:0040067 DOID:0040067 neomycin sulfate allergic contact dermatitis Disease_Ontology DOID:0040068 DOID:0040068 4-tert-butylphenol allergic contact dermatitis Disease_Ontology DOID:0040069 DOID:0040069 1-chloro-2,4-dinitrobenzene allergic contact dermatitis Disease_Ontology DOID:0040070 DOID:0040070 co-trimoxazole allergy Disease_Ontology DOID:0040071 DOID:0040071 sodium aurothiomalate allergy Disease_Ontology DOID:0040072 DOID:0040072 parthenolide allergic contact dermatitis Disease_Ontology DOID:0040073 DOID:0040073 disodium cromoglycate allergy Disease_Ontology DOID:0040074 DOID:0040074 formaldehyde allergic contact dermatitis Disease_Ontology DOID:0040075 DOID:0040075 benzo[d]isothiazol-3-one allergic contact dermatitis Disease_Ontology DOID:0040076 DOID:0040076 phthalyl group allergy Disease_Ontology DOID:0040077 DOID:0040077 alcuronium bromide allergy Disease_Ontology DOID:0040078 DOID:0040078 gallamine allergy Disease_Ontology DOID:0040079 DOID:0040079 2,4-dinitrophenyl allergic contact dermatitis Disease_Ontology DOID:0040080 DOID:0040080 patent blue V allergy Disease_Ontology DOID:0040081 DOID:0040081 acid anhydride respiratory allergy Disease_Ontology DOID:0040082 DOID:0040082 oxirane allergy Disease_Ontology DOID:0040083 DOID:0040083 Chlamydia pneumonia Disease_Ontology DOID:0040084 DOID:0040084 Streptococcus pneumonia Disease_Ontology DOID:0040085 DOID:0040085 bacterial sepsis Disease_Ontology DOID:0040086 DOID:0040086 Polyomavirus-associated nephropathy Disease_Ontology DOID:0040087 DOID:0040087 autoimmune peripheral neuropathy Disease_Ontology DOID:0040088 DOID:0040088 autoimmune uveitis Disease_Ontology DOID:0040089 DOID:0040089 autoimmune optic neuritis Disease_Ontology DOID:0040090 DOID:0040090 autoimmune gastritis Disease_Ontology DOID:0040091 DOID:0040091 autoimmune pancreatitis Disease_Ontology DOID:0040092 DOID:0040092 juvenile ankylosing spondylitis Disease_Ontology DOID:0040093 DOID:0040093 drug-induced lupus erythematosus Disease_Ontology DOID:0040094 DOID:0040094 autoimmune glomerulonephritis Disease_Ontology DOID:0040095 DOID:0040095 autoimmune cardiomyopathy Disease_Ontology DOID:0040096 DOID:0040096 autoimmune atherosclerosis Disease_Ontology DOID:0040097 DOID:0040097 autoimmune vasculitis Disease_Ontology DOID:0040098 DOID:0040098 pemphigus gestationis Disease_Ontology DOID:0040099 DOID:0040099 livedoid vasculitis Disease_Ontology DOID:0040100 DOID:0040100 Hirata disease Disease_Ontology DOID:0040101 DOID:0040101 N,N'-diphenylthiourea allergic contact dermatitis Disease_Ontology DOID:0040102 DOID:0040102 N,N'-diethylthiourea allergic contact dermatitis Disease_Ontology DOID:0040103 DOID:0040103 cefotiam allergy Disease_Ontology DOID:0040104 DOID:0040104 toluene 2,4-diisocyanate allergic asthma Disease_Ontology DOID:0050004 DOID:0050004 seminal vesicle acute gonorrhea Disease_Ontology DOID:0050012 DOID:0050012 chikungunya Disease_Ontology DOID:0050025 DOID:0050025 human granulocytic anaplasmosis Disease_Ontology DOID:0050026 DOID:0050026 human monocytic ehrlichiosis Disease_Ontology DOID:0050032 DOID:0050032 mineral metabolism disease Disease_Ontology DOID:0050035 DOID:0050035 African tick-bite fever Disease_Ontology DOID:0050041 DOID:0050041 Astrakhan spotted fever Disease_Ontology DOID:0050042 DOID:0050042 Indian tick typhus Disease_Ontology DOID:0050043 DOID:0050043 Israeli tick typhus Disease_Ontology DOID:0050046 DOID:0050046 Far Eastern spotted fever Disease_Ontology DOID:0050047 DOID:0050047 Flinders Island spotted fever Disease_Ontology DOID:0050050 DOID:0050050 Japanese spotted fever Disease_Ontology DOID:0050051 DOID:0050051 Rickettsia parkeri spotted fever Disease_Ontology DOID:0050052 DOID:0050052 Rocky Mountain spotted fever Disease_Ontology DOID:0050059 DOID:0050059 oropharyngeal anthrax Disease_Ontology DOID:0050061 DOID:0050061 erysipeloid Disease_Ontology DOID:0050072 DOID:0050072 adiaspiromycosis Disease_Ontology DOID:0050073 DOID:0050073 invasive aspergillosis Disease_Ontology DOID:0050083 DOID:0050083 Keshan disease Disease_Ontology DOID:0050096 DOID:0050096 tinea barbae Disease_Ontology DOID:0050097 DOID:0050097 ectothrix infectious disease Disease_Ontology DOID:0050105 DOID:0050105 endothrix infectious disease Disease_Ontology DOID:0050116 DOID:0050116 tinea imbricata Disease_Ontology DOID:0050117 DOID:0050117 disease by infectious agent Disease_Ontology DOID:0050118 DOID:0050118 La Crosse encephalitis Disease_Ontology DOID:0050120 DOID:0050120 hemophagocytic lymphohistiocytosis Disease_Ontology DOID:0050125 DOID:0050125 dengue shock syndrome Disease_Ontology DOID:0050127 DOID:0050127 sinusitis Disease_Ontology DOID:0050129 DOID:0050129 secretory diarrhea Disease_Ontology DOID:0050130 DOID:0050130 osmotic diarrhea Disease_Ontology DOID:0050131 DOID:0050131 motility-related diarrhea Disease_Ontology DOID:0050132 DOID:0050132 inflammatory diarrhea Disease_Ontology DOID:0050133 DOID:0050133 superficial mycosis Disease_Ontology DOID:0050134 DOID:0050134 cutaneous mycosis Disease_Ontology DOID:0050135 DOID:0050135 subcutaneous mycosis Disease_Ontology DOID:0050136 DOID:0050136 systemic mycosis Disease_Ontology DOID:0050138 DOID:0050138 podoconiosis Disease_Ontology DOID:0050140 DOID:0050140 acute diarrhea Disease_Ontology DOID:0050141 DOID:0050141 intestinal botulism Disease_Ontology DOID:0050143 DOID:0050143 asymptomatic dengue Disease_Ontology DOID:0050144 DOID:0050144 Kartagener syndrome Disease_Ontology DOID:0050145 DOID:0050145 adenoiditis Disease_Ontology DOID:0050147 DOID:0050147 otomycosis Disease_Ontology DOID:0050148 DOID:0050148 laryngotracheitis Disease_Ontology DOID:0050150 DOID:0050150 Pontiac fever Disease_Ontology DOID:0050152 DOID:0050152 aspiration pneumonia Disease_Ontology DOID:0050153 DOID:0050153 pulmonary aspergilloma Disease_Ontology DOID:0050155 DOID:0050155 sensory system disease Disease_Ontology DOID:0050156 DOID:0050156 idiopathic pulmonary fibrosis Disease_Ontology DOID:0050157 DOID:0050157 cryptogenic organizing pneumonia Disease_Ontology DOID:0050158 DOID:0050158 desquamative interstitial pneumonia Disease_Ontology DOID:0050159 DOID:0050159 lymphoid interstitial pneumonia Disease_Ontology DOID:0050160 DOID:0050160 inhalation anthrax Disease_Ontology DOID:0050161 DOID:0050161 lower respiratory tract disease Disease_Ontology DOID:0050166 DOID:0050166 tuberculous salpingitis Disease_Ontology DOID:0050167 DOID:0050167 autoimmune polyendocrine syndrome type 1 Disease_Ontology DOID:0050168 DOID:0050168 autoimmune polyendocrine syndrome type 2 Disease_Ontology DOID:0050169 DOID:0050169 cutaneous lupus erythematosus Disease_Ontology DOID:0050174 DOID:0050174 Kunjin encephalitis Disease_Ontology DOID:0050175 DOID:0050175 tick-borne encephalitis Disease_Ontology DOID:0050177 DOID:0050177 monogenic disease Disease_Ontology DOID:0050179 DOID:0050179 Powassan encephalitis Disease_Ontology DOID:0050185 DOID:0050185 erythema multiforme Disease_Ontology DOID:0050192 DOID:0050192 Nipah virus encephalitis Disease_Ontology DOID:0050194 DOID:0050194 Argentine hemorrhagic fever Disease_Ontology DOID:0050195 DOID:0050195 Bolivian hemorrhagic fever Disease_Ontology DOID:0050196 DOID:0050196 Venezuelan hemorrhagic fever Disease_Ontology DOID:0050197 DOID:0050197 Brazilian hemorrhagic fever Disease_Ontology DOID:0050198 DOID:0050198 Chapare hemorrhagic fever Disease_Ontology DOID:0050199 DOID:0050199 Whitewater Arroyo hemorrhagic fever Disease_Ontology DOID:0050200 DOID:0050200 Korean hemorrhagic fever Disease_Ontology DOID:0050201 DOID:0050201 nephropathia epidemica Disease_Ontology DOID:0050202 DOID:0050202 Lujo hemorrhagic fever Disease_Ontology DOID:0050204 DOID:0050204 Epstein-Barr virus hepatitis Disease_Ontology DOID:0050211 DOID:0050211 swine influenza Disease_Ontology DOID:0050214 DOID:0050214 Lambert-Eaton myasthenic syndrome Disease_Ontology DOID:0050218 DOID:0050218 polycystic echinococcosis Disease_Ontology DOID:0050222 DOID:0050222 selective IgM deficiency disease Disease_Ontology DOID:0050242 DOID:0050242 primary amebic meningoencephalitis Disease_Ontology DOID:0050246 DOID:0050246 granulomatous amebic encephalitis Disease_Ontology DOID:0050250 DOID:0050250 philophthalmiasis Disease_Ontology DOID:0050251 DOID:0050251 coenurosis Disease_Ontology DOID:0050253 DOID:0050253 mesocestoidiasis Disease_Ontology DOID:0050254 DOID:0050254 acanthocephaliasis Disease_Ontology DOID:0050256 DOID:0050256 angiostrongyliasis Disease_Ontology DOID:0050259 DOID:0050259 baylisascariasis Disease_Ontology DOID:0050260 DOID:0050260 dioctophymiasis Disease_Ontology DOID:0050261 DOID:0050261 thelaziasis Disease_Ontology DOID:0050266 DOID:0050266 tungiasis Disease_Ontology DOID:0050268 DOID:0050268 ophthalmomyiasis Disease_Ontology DOID:0050269 DOID:0050269 Trichomonas vaginalis trichomoniasis Disease_Ontology DOID:0050270 DOID:0050270 Trichomonas tenax trichomoniasis Disease_Ontology DOID:0050278 DOID:0050278 basidiobolomycosis Disease_Ontology DOID:0050279 DOID:0050279 conidiobolomycosis Disease_Ontology DOID:0050288 DOID:0050288 penicilliosis Disease_Ontology DOID:0050289 DOID:0050289 fusariosis Disease_Ontology DOID:0050290 DOID:0050290 trichosporonosis Disease_Ontology DOID:0050291 DOID:0050291 parasitic Ichthyosporea infectious disease Disease_Ontology DOID:0050292 DOID:0050292 primary systemic mycosis Disease_Ontology DOID:0050304 DOID:0050304 aniseikonia Disease_Ontology DOID:0050308 DOID:0050308 Alkhumra hemorrhagic fever Disease_Ontology DOID:0050328 DOID:0050328 congenital hypothyroidism Disease_Ontology DOID:0050331 DOID:0050331 lacrimoauriculodentodigital syndrome 1 Disease_Ontology DOID:0050332 DOID:0050332 enlarged vestibular aqueduct Disease_Ontology DOID:0050335 DOID:0050335 bradyopsia Disease_Ontology DOID:0050336 DOID:0050336 hypophosphatemia Disease_Ontology DOID:0050338 DOID:0050338 primary bacterial infectious disease Disease_Ontology DOID:0050339 DOID:0050339 commensal bacterial infectious disease Disease_Ontology DOID:0050340 DOID:0050340 opportunistic bacterial infectious disease Disease_Ontology DOID:0050352 DOID:0050352 foodborne botulism Disease_Ontology DOID:0050353 DOID:0050353 wound botulism Disease_Ontology DOID:0050354 DOID:0050354 infant botulism Disease_Ontology DOID:0050382 DOID:0050382 glandular tularemia Disease_Ontology DOID:0050383 DOID:0050383 typhoidal tularemia Disease_Ontology DOID:0050387 DOID:0050387 nonpapillary renal cell carcinoma Disease_Ontology DOID:0050398 DOID:0050398 Carrion's disease Disease_Ontology DOID:0050419 DOID:0050419 complement factor I deficiency Disease_Ontology DOID:0050424 DOID:0050424 familial adenomatous polyposis Disease_Ontology DOID:0050425 DOID:0050425 restless legs syndrome Disease_Ontology DOID:0050426 DOID:0050426 Stevens-Johnson syndrome Disease_Ontology DOID:0050427 DOID:0050427 xeroderma pigmentosum Disease_Ontology DOID:0050428 DOID:0050428 nonepidermolytic palmoplantar keratoderma Disease_Ontology DOID:0050429 DOID:0050429 Hailey-Hailey disease Disease_Ontology DOID:0050430 DOID:0050430 multiple endocrine neoplasia type 2A Disease_Ontology DOID:0050431 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy Disease_Ontology DOID:0050432 DOID:0050432 Asperger syndrome Disease_Ontology DOID:0050433 DOID:0050433 fatal familial insomnia Disease_Ontology DOID:0050434 DOID:0050434 Andersen-Tawil syndrome Disease_Ontology DOID:0050436 DOID:0050436 mulibrey nanism Disease_Ontology DOID:0050437 DOID:0050437 Danon disease Disease_Ontology DOID:0050438 DOID:0050438 Frasier syndrome Disease_Ontology DOID:0050439 DOID:0050439 Usher syndrome Disease_Ontology DOID:0050440 DOID:0050440 familial partial lipodystrophy Disease_Ontology DOID:0050441 DOID:0050441 mucosulfatidosis Disease_Ontology DOID:0050444 DOID:0050444 infantile Refsum disease Disease_Ontology DOID:0050445 DOID:0050445 X-linked hypophosphatemic rickets Disease_Ontology DOID:0050448 DOID:0050448 white sponge nevus Disease_Ontology DOID:0050449 DOID:0050449 pachyonychia congenita Disease_Ontology DOID:0050450 DOID:0050450 Gitelman syndrome Disease_Ontology DOID:0050451 DOID:0050451 Brugada syndrome Disease_Ontology DOID:0050452 DOID:0050452 mevalonic aciduria Disease_Ontology DOID:0050453 DOID:0050453 lissencephaly Disease_Ontology DOID:0050454 DOID:0050454 periventricular nodular heterotopia Disease_Ontology DOID:0050456 DOID:0050456 Buruli ulcer disease Disease_Ontology DOID:0050457 DOID:0050457 Sertoli cell-only syndrome Disease_Ontology DOID:0050458 DOID:0050458 juvenile myelomonocytic leukemia Disease_Ontology DOID:0050459 DOID:0050459 hyperphosphatemia Disease_Ontology DOID:0050460 DOID:0050460 Wolf-Hirschhorn syndrome Disease_Ontology DOID:0050461 DOID:0050461 aspartylglucosaminuria Disease_Ontology DOID:0050462 DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis Disease_Ontology DOID:0050463 DOID:0050463 campomelic dysplasia Disease_Ontology DOID:0050464 DOID:0050464 Farber lipogranulomatosis Disease_Ontology DOID:0050465 DOID:0050465 Muir-Torre syndrome Disease_Ontology DOID:0050466 DOID:0050466 Loeys-Dietz syndrome Disease_Ontology DOID:0050467 DOID:0050467 erythrokeratodermia variabilis Disease_Ontology DOID:0050468 DOID:0050468 yellow nail syndrome Disease_Ontology DOID:0050469 DOID:0050469 Costello syndrome Disease_Ontology DOID:0050470 DOID:0050470 Donohue syndrome Disease_Ontology DOID:0050471 DOID:0050471 Carney complex Disease_Ontology DOID:0050472 DOID:0050472 monilethrix Disease_Ontology DOID:0050473 DOID:0050473 Alstrom syndrome Disease_Ontology DOID:0050474 DOID:0050474 Netherton syndrome Disease_Ontology DOID:0050475 DOID:0050475 Weill-Marchesani syndrome Disease_Ontology DOID:0050476 DOID:0050476 Barth syndrome Disease_Ontology DOID:0050477 DOID:0050477 Liddle syndrome Disease_Ontology DOID:0050480 DOID:0050480 epidemic typhus Disease_Ontology DOID:0050481 DOID:0050481 endemic typhus Disease_Ontology DOID:0050484 DOID:0050484 aneruptive fever Disease_Ontology DOID:0050485 DOID:0050485 sennetsu fever Disease_Ontology DOID:0050486 DOID:0050486 exanthem Disease_Ontology DOID:0050487 DOID:0050487 bacterial exanthem Disease_Ontology DOID:0050488 DOID:0050488 early congenital syphilis Disease_Ontology DOID:0050489 DOID:0050489 multinodular goiter Disease_Ontology DOID:0050490 DOID:0050490 parenchymatous neurosyphilis Disease_Ontology DOID:0050491 DOID:0050491 meningovascular neurosyphilis Disease_Ontology DOID:0050495 DOID:0050495 exanthema subitum Disease_Ontology DOID:0050508 DOID:0050508 variola major Disease_Ontology DOID:0050513 DOID:0050513 spinal polio Disease_Ontology DOID:0050514 DOID:0050514 bulbospinal polio Disease_Ontology DOID:0050515 DOID:0050515 paralytic poliomyelitis Disease_Ontology DOID:0050516 DOID:0050516 O'nyong-nyong fever Disease_Ontology DOID:0050517 DOID:0050517 Barmah Forest virus disease Disease_Ontology DOID:0050518 DOID:0050518 Ross River fever Disease_Ontology DOID:0050521 DOID:0050521 Oropouche fever Disease_Ontology DOID:0050522 DOID:0050522 Balkan hemorrhagic fever Disease_Ontology DOID:0050523 DOID:0050523 adult T-cell leukemia/lymphoma Disease_Ontology DOID:0050524 DOID:0050524 maturity-onset diabetes of the young Disease_Ontology DOID:0050526 DOID:0050526 Gamstorp-Wohlfart syndrome Disease_Ontology DOID:0050528 DOID:0050528 nonphotosensitive trichothiodystrophy 4 Disease_Ontology DOID:0050529 DOID:0050529 adult spinal muscular atrophy Disease_Ontology DOID:0050530 DOID:0050530 intermediate spinal muscular atrophy Disease_Ontology DOID:0050534 DOID:0050534 congenital stationary night blindness Disease_Ontology DOID:0050535 DOID:0050535 exudative vitreoretinopathy Disease_Ontology DOID:0050537 DOID:0050537 posterior polar cataract Disease_Ontology DOID:0050538 DOID:0050538 Charcot-Marie-Tooth disease type 1 Disease_Ontology DOID:0050539 DOID:0050539 Charcot-Marie-Tooth disease type 2 Disease_Ontology DOID:0050540 DOID:0050540 Charcot-Marie-Tooth disease type 3 Disease_Ontology DOID:0050541 DOID:0050541 Charcot-Marie-Tooth disease type 4 Disease_Ontology DOID:0050542 DOID:0050542 Charcot-Marie-Tooth disease type X Disease_Ontology DOID:0050543 DOID:0050543 Charcot-Marie-Tooth disease intermediate type Disease_Ontology DOID:0050544 DOID:0050544 hypermethioninemia Disease_Ontology DOID:0050545 DOID:0050545 visceral heterotaxy Disease_Ontology DOID:0050546 DOID:0050546 congenital adrenal insufficiency Disease_Ontology DOID:0050547 DOID:0050547 familial medullary thyroid carcinoma Disease_Ontology DOID:0050548 DOID:0050548 hereditary sensory and autonomic neuropathy Disease_Ontology DOID:0050553 DOID:0050553 proteasome-associated autoinflammatory syndrome 1 Disease_Ontology DOID:0050554 DOID:0050554 X-linked sideroblastic anemia with ataxia Disease_Ontology DOID:0050557 DOID:0050557 congenital muscular dystrophy Disease_Ontology DOID:0050558 DOID:0050558 Ullrich congenital muscular dystrophy Disease_Ontology DOID:0050559 DOID:0050559 Fukuyama congenital muscular dystrophy Disease_Ontology DOID:0050560 DOID:0050560 Walker-Warburg syndrome Disease_Ontology DOID:0050561 DOID:0050561 Lennox-Gastaut syndrome Disease_Ontology DOID:0050562 DOID:0050562 West syndrome Disease_Ontology DOID:0050563 DOID:0050563 nonsyndromic deafness Disease_Ontology DOID:0050564 DOID:0050564 autosomal dominant nonsyndromic deafness Disease_Ontology DOID:0050565 DOID:0050565 autosomal recessive nonsyndromic deafness Disease_Ontology DOID:0050566 DOID:0050566 X-linked nonsyndromic deafness Disease_Ontology DOID:0050567 DOID:0050567 orofacial cleft Disease_Ontology DOID:0050568 DOID:0050568 spondylocostal dysostosis Disease_Ontology DOID:0050569 DOID:0050569 Seckel syndrome Disease_Ontology DOID:0050570 DOID:0050570 congenital disorder of glycosylation type I Disease_Ontology DOID:0050571 DOID:0050571 congenital disorder of glycosylation type II Disease_Ontology DOID:0050572 DOID:0050572 cone-rod dystrophy Disease_Ontology DOID:0050573 DOID:0050573 2-hydroxyglutaric aciduria Disease_Ontology DOID:0050574 DOID:0050574 L-2-hydroxyglutaric aciduria Disease_Ontology DOID:0050575 DOID:0050575 D-2-hydroxyglutaric aciduria Disease_Ontology DOID:0050576 DOID:0050576 Senior-Loken syndrome Disease_Ontology DOID:0050577 DOID:0050577 cranioectodermal dysplasia Disease_Ontology DOID:0050578 DOID:0050578 occult macular dystrophy Disease_Ontology DOID:0050579 DOID:0050579 glycogen storage disease XV Disease_Ontology DOID:0050580 DOID:0050580 hereditary lymphedema Disease_Ontology DOID:0050581 DOID:0050581 brachydactyly Disease_Ontology DOID:0050584 DOID:0050584 gummatous syphilis Disease_Ontology DOID:0050585 DOID:0050585 congenital generalized lipodystrophy Disease_Ontology DOID:0050587 DOID:0050587 trichotillomania Disease_Ontology DOID:0050588 DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 Disease_Ontology DOID:0050589 DOID:0050589 inflammatory bowel disease Disease_Ontology DOID:0050590 DOID:0050590 severe congenital neutropenia Disease_Ontology DOID:0050591 DOID:0050591 tooth agenesis Disease_Ontology DOID:0050592 DOID:0050592 asphyxiating thoracic dystrophy Disease_Ontology DOID:0050593 DOID:0050593 primary congenital glaucoma Disease_Ontology DOID:0050594 DOID:0050594 glycogen storage disease IX Disease_Ontology DOID:0050596 DOID:0050596 taeniasis Disease_Ontology DOID:0050597 DOID:0050597 intestinal schistosomiasis Disease_Ontology DOID:0050598 DOID:0050598 extrapulmonary tuberculosis Disease_Ontology DOID:0050599 DOID:0050599 abdominal tuberculosis Disease_Ontology DOID:0050600 DOID:0050600 ABCD syndrome Disease_Ontology DOID:0050601 DOID:0050601 ADULT syndrome Disease_Ontology DOID:0050602 DOID:0050602 triple-A syndrome Disease_Ontology DOID:0050603 DOID:0050603 acheiropody Disease_Ontology DOID:0050604 DOID:0050604 acrocapitofemoral dysplasia Disease_Ontology DOID:0050605 DOID:0050605 acrodermatitis enteropathica Disease_Ontology DOID:0050606 DOID:0050606 acrokeratosis verruciformis Disease_Ontology DOID:0050608 DOID:0050608 Askin's tumor Disease_Ontology DOID:0050610 DOID:0050610 oral cavity carcinoma in situ Disease_Ontology DOID:0050611 DOID:0050611 pharynx carcinoma in situ Disease_Ontology DOID:0050612 DOID:0050612 gallbladder carcinoma in situ Disease_Ontology DOID:0050613 DOID:0050613 bile duct carcinoma in situ Disease_Ontology DOID:0050614 DOID:0050614 bronchus carcinoma in situ Disease_Ontology DOID:0050615 DOID:0050615 respiratory system cancer Disease_Ontology DOID:0050619 DOID:0050619 paranasal sinus cancer Disease_Ontology DOID:0050620 DOID:0050620 infiltrating renal pelvis transitional cell carcinoma Disease_Ontology DOID:0050621 DOID:0050621 respiratory system benign neoplasm Disease_Ontology DOID:0050622 DOID:0050622 reproductive organ benign neoplasm Disease_Ontology DOID:0050623 DOID:0050623 bladder benign neoplasm Disease_Ontology DOID:0050624 DOID:0050624 gastrointestinal system benign neoplasm Disease_Ontology DOID:0050625 DOID:0050625 biliary tract benign neoplasm Disease_Ontology DOID:0050626 DOID:0050626 gastrointestinal neuroendocrine tumor Disease_Ontology DOID:0050628 DOID:0050628 advanced sleep phase syndrome Disease_Ontology DOID:0050629 DOID:0050629 Aicardi-Goutieres syndrome Disease_Ontology DOID:0050630 DOID:0050630 Aland Island eye disease Disease_Ontology DOID:0050631 DOID:0050631 Allan-Herndon-Dudley syndrome Disease_Ontology DOID:0050632 DOID:0050632 oculocutaneous albinism Disease_Ontology DOID:0050633 DOID:0050633 ocular albinism 1 Disease_Ontology DOID:0050634 DOID:0050634 alopecia universalis Disease_Ontology DOID:0050635 DOID:0050635 alternating hemiplegia of childhood Disease_Ontology DOID:0050636 DOID:0050636 hereditary systemic amyloidosis 2 Disease_Ontology DOID:0050637 DOID:0050637 Finnish type amyloidosis Disease_Ontology DOID:0050638 DOID:0050638 hereditary systemic amyloidosis 1 Disease_Ontology DOID:0050639 DOID:0050639 primary cutaneous amyloidosis Disease_Ontology DOID:0050640 DOID:0050640 anauxetic dysplasia 1 Disease_Ontology DOID:0050641 DOID:0050641 Rh deficiency syndrome Disease_Ontology DOID:0050642 DOID:0050642 hypochromic microcytic anemia Disease_Ontology DOID:0050644 DOID:0050644 arterial calcification of infancy Disease_Ontology DOID:0050645 DOID:0050645 arterial tortuosity syndrome Disease_Ontology DOID:0050646 DOID:0050646 distal arthrogryposis Disease_Ontology DOID:0050647 DOID:0050647 Arts syndrome Disease_Ontology DOID:0050648 DOID:0050648 atelosteogenesis Disease_Ontology DOID:0050649 DOID:0050649 atransferrinemia Disease_Ontology DOID:0050650 DOID:0050650 familial atrial fibrillation Disease_Ontology DOID:0050651 DOID:0050651 atrioventricular septal defect Disease_Ontology DOID:0050654 DOID:0050654 Baller-Gerold syndrome Disease_Ontology DOID:0050655 DOID:0050655 Bamforth-Lazarus syndrome Disease_Ontology DOID:0050656 DOID:0050656 pseudo-TORCH syndrome 1 Disease_Ontology DOID:0050657 DOID:0050657 Cowden syndrome 1 Disease_Ontology DOID:0050658 DOID:0050658 Bart-Pumphrey syndrome Disease_Ontology DOID:0050659 DOID:0050659 biotin-responsive basal ganglia disease Disease_Ontology DOID:0050660 DOID:0050660 Beare-Stevenson cutis gyrata syndrome Disease_Ontology DOID:0050661 DOID:0050661 vitelliform macular dystrophy Disease_Ontology DOID:0050662 DOID:0050662 bestrophinopathy Disease_Ontology DOID:0050663 DOID:0050663 Bethlem myopathy Disease_Ontology DOID:0050664 DOID:0050664 Bietti crystalline corneoretinal dystrophy Disease_Ontology DOID:0050665 DOID:0050665 fetal alcohol syndrome Disease_Ontology DOID:0050666 DOID:0050666 partial fetal alcohol syndrome Disease_Ontology DOID:0050667 DOID:0050667 alcohol-related neurodevelopmental disorder Disease_Ontology DOID:0050668 DOID:0050668 alcohol-related birth defects Disease_Ontology DOID:0050669 DOID:0050669 spastic cerebral palsy Disease_Ontology DOID:0050670 DOID:0050670 ataxic cerebral palsy Disease_Ontology DOID:0050671 DOID:0050671 female breast cancer Disease_Ontology DOID:0050672 DOID:0050672 dyskinetic cerebral palsy Disease_Ontology DOID:0050673 DOID:0050673 mixed cerebral palsy Disease_Ontology DOID:0050674 DOID:0050674 congenital bile acid synthesis defect Disease_Ontology DOID:0050675 DOID:0050675 Birk-Barel syndrome Disease_Ontology DOID:0050676 DOID:0050676 Birt-Hogg-Dube syndrome Disease_Ontology DOID:0050677 DOID:0050677 Bjornstad syndrome Disease_Ontology DOID:0050678 DOID:0050678 Blau syndrome Disease_Ontology DOID:0050679 DOID:0050679 blue cone monochromacy Disease_Ontology DOID:0050680 DOID:0050680 Boomerang dysplasia Disease_Ontology DOID:0050681 DOID:0050681 Borjeson-Forssman-Lehmann syndrome Disease_Ontology DOID:0050682 DOID:0050682 Athabaskan brainstem dysgenesis syndrome Disease_Ontology DOID:0050683 DOID:0050683 Bothnia retinal dystrophy Disease_Ontology DOID:0050684 DOID:0050684 Bowen-Conradi syndrome Disease_Ontology DOID:0050685 DOID:0050685 small cell carcinoma Disease_Ontology DOID:0050686 DOID:0050686 organ system cancer Disease_Ontology DOID:0050687 DOID:0050687 cell type cancer Disease_Ontology DOID:0050688 DOID:0050688 anal canal cancer Disease_Ontology DOID:0050689 DOID:0050689 brachydactyly-syndactyly syndrome Disease_Ontology DOID:0050690 DOID:0050690 brachyolmia Disease_Ontology DOID:0050691 DOID:0050691 branchiooculofacial syndrome Disease_Ontology DOID:0050692 DOID:0050692 Brody myopathy Disease_Ontology DOID:0050693 DOID:0050693 Brooke-Spiegler syndrome Disease_Ontology DOID:0050694 DOID:0050694 Brown-Vialetto-Van Laere syndrome Disease_Ontology DOID:0050695 DOID:0050695 malignant pleural solitary fibrous tumor Disease_Ontology DOID:0050696 DOID:0050696 fetal alcohol spectrum disorder Disease_Ontology DOID:0050697 DOID:0050697 chorioamnionitis Disease_Ontology DOID:0050698 DOID:0050698 funisitis Disease_Ontology DOID:0050699 DOID:0050699 Dent disease Disease_Ontology DOID:0050700 DOID:0050700 cardiomyopathy Disease_Ontology DOID:0050701 DOID:0050701 electroclinical syndrome Disease_Ontology DOID:0050702 DOID:0050702 neonatal period electroclinical syndrome Disease_Ontology DOID:0050703 DOID:0050703 infancy electroclinical syndrome Disease_Ontology DOID:0050704 DOID:0050704 childhood electroclinical syndrome Disease_Ontology DOID:0050705 DOID:0050705 adolescence-adult electroclinical syndrome Disease_Ontology DOID:0050706 DOID:0050706 variable age at onset electroclinical syndrome Disease_Ontology DOID:0050708 DOID:0050708 early onset absence epilepsy Disease_Ontology DOID:0050709 DOID:0050709 early infantile epileptic encephalopathy Disease_Ontology DOID:0050710 DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency Disease_Ontology DOID:0050711 DOID:0050711 aceruloplasminemia Disease_Ontology DOID:0050712 DOID:0050712 AGAT deficiency Disease_Ontology DOID:0050713 DOID:0050713 COX deficiency, infantile mitochondrial myopathy Disease_Ontology DOID:0050715 DOID:0050715 methylmalonic aciduria and homocystinuria type cblC Disease_Ontology DOID:0050716 DOID:0050716 methylmalonic aciduria and homocystinuria type cblD Disease_Ontology DOID:0050717 DOID:0050717 methylmalonic aciduria and homocystinuria type cblF Disease_Ontology DOID:0050718 DOID:0050718 vitamin metabolic disorder Disease_Ontology DOID:0050719 DOID:0050719 cerebral folate receptor alpha deficiency Disease_Ontology DOID:0050720 DOID:0050720 ornithine translocase deficiency Disease_Ontology DOID:0050721 DOID:0050721 serine deficiency Disease_Ontology DOID:0050722 DOID:0050722 PHGDH deficiency Disease_Ontology DOID:0050723 DOID:0050723 PSAT deficiency Disease_Ontology DOID:0050724 DOID:0050724 PSPH deficiency Disease_Ontology DOID:0050725 DOID:0050725 tyrosinemia type II Disease_Ontology DOID:0050726 DOID:0050726 tyrosinemia type I Disease_Ontology DOID:0050727 DOID:0050727 tyrosinemia type III Disease_Ontology DOID:0050728 DOID:0050728 glycogen metabolism disorder Disease_Ontology DOID:0050729 DOID:0050729 Chanarin-Dorfman syndrome Disease_Ontology DOID:0050730 DOID:0050730 coenzyme Q10 deficiency disease Disease_Ontology DOID:0050731 DOID:0050731 vitamin B12 deficiency Disease_Ontology DOID:0050732 DOID:0050732 methylmalonic aciduria and homocystinuria type cblE Disease_Ontology DOID:0050733 DOID:0050733 methylmalonic aciduria and homocystinuria type cblG Disease_Ontology DOID:0050734 DOID:0050734 congenital intrinsic factor deficiency Disease_Ontology DOID:0050735 DOID:0050735 X-linked monogenic disease Disease_Ontology DOID:0050736 DOID:0050736 autosomal dominant disease Disease_Ontology DOID:0050737 DOID:0050737 autosomal recessive disease Disease_Ontology DOID:0050738 DOID:0050738 Y-linked monogenic disease Disease_Ontology DOID:0050739 DOID:0050739 autosomal genetic disease Disease_Ontology DOID:0050740 DOID:0050740 Qazi Markouizos syndrome Disease_Ontology DOID:0050741 DOID:0050741 alcohol dependence Disease_Ontology DOID:0050742 DOID:0050742 nicotine dependence Disease_Ontology DOID:0050743 DOID:0050743 mature T-cell and NK-cell lymphoma Disease_Ontology DOID:0050744 DOID:0050744 anaplastic large cell lymphoma Disease_Ontology DOID:0050745 DOID:0050745 diffuse large B-cell lymphoma Disease_Ontology DOID:0050746 DOID:0050746 mantle cell lymphoma Disease_Ontology DOID:0050748 DOID:0050748 marginal zone lymphoma Disease_Ontology DOID:0050749 DOID:0050749 peripheral T-cell lymphoma Disease_Ontology DOID:0050750 DOID:0050750 splenic marginal zone lymphoma Disease_Ontology DOID:0050751 DOID:0050751 T-cell large granular lymphocyte leukemia Disease_Ontology DOID:0050752 DOID:0050752 amyotrophic lateral sclerosis type 8 Disease_Ontology DOID:0050753 DOID:0050753 cerebellar ataxia Disease_Ontology DOID:0050754 DOID:0050754 early-onset ataxia with oculomotor apraxia and hypoalbuminemia Disease_Ontology DOID:0050755 DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 Disease_Ontology DOID:0050757 DOID:0050757 deafness-dystonia-optic neuronopathy syndrome Disease_Ontology DOID:0050758 DOID:0050758 metabolic acidosis Disease_Ontology DOID:0050759 DOID:0050759 myotonic dystrophy type 2 Disease_Ontology DOID:0050760 DOID:0050760 X-linked myopathy with excessive autophagy Disease_Ontology DOID:0050762 DOID:0050762 adenylosuccinase lyase deficiency Disease_Ontology DOID:0050763 DOID:0050763 ARC syndrome Disease_Ontology DOID:0050764 DOID:0050764 Armfield syndrome Disease_Ontology DOID:0050765 DOID:0050765 neuroacanthocytosis Disease_Ontology DOID:0050766 DOID:0050766 choreaacanthocytosis Disease_Ontology DOID:0050767 DOID:0050767 midface dysplasia Disease_Ontology DOID:0050768 DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Disease_Ontology DOID:0050769 DOID:0050769 N syndrome Disease_Ontology DOID:0050770 DOID:0050770 polycystic liver disease Disease_Ontology DOID:0050771 DOID:0050771 pheochromocytoma Disease_Ontology DOID:0050772 DOID:0050772 spastic ataxia 1 Disease_Ontology DOID:0050773 DOID:0050773 paraganglioma Disease_Ontology DOID:0050774 DOID:0050774 rapadilino syndrome Disease_Ontology DOID:0050775 DOID:0050775 schneckenbecken dysplasia Disease_Ontology DOID:0050776 DOID:0050776 non-syndromic X-linked intellectual disability Disease_Ontology DOID:0050777 DOID:0050777 Joubert syndrome Disease_Ontology DOID:0050778 DOID:0050778 Meckel syndrome Disease_Ontology DOID:0050779 DOID:0050779 hydrolethalus syndrome Disease_Ontology DOID:0050781 DOID:0050781 Ogden syndrome Disease_Ontology DOID:0050782 DOID:0050782 Zollinger-Ellison syndrome Disease_Ontology DOID:0050783 DOID:0050783 secondary progressive multiple sclerosis Disease_Ontology DOID:0050784 DOID:0050784 primary progressive multiple sclerosis Disease_Ontology DOID:0050785 DOID:0050785 progressive relapsing multiple sclerosis Disease_Ontology DOID:0050787 DOID:0050787 juvenile polyposis syndrome Disease_Ontology DOID:0050788 DOID:0050788 proximal symphalangism Disease_Ontology DOID:0050789 DOID:0050789 tarsal-carpal coalition syndrome Disease_Ontology DOID:0050790 DOID:0050790 fibular hypoplasia and complex brachydactyly Disease_Ontology DOID:0050791 DOID:0050791 persistent Mullerian duct syndrome Disease_Ontology DOID:0050792 DOID:0050792 multiple cutaneous and mucosal venous malformations Disease_Ontology DOID:0050793 DOID:0050793 short QT syndrome Disease_Ontology DOID:0050794 DOID:0050794 multiple synostoses syndrome Disease_Ontology DOID:0050795 DOID:0050795 cone dystrophy Disease_Ontology DOID:0050796 DOID:0050796 achalasia microcephaly syndrome Disease_Ontology DOID:0050797 DOID:0050797 peroxisomal acyl-CoA oxidase deficiency Disease_Ontology DOID:0050798 DOID:0050798 cerebral creatine deficiency syndrome Disease_Ontology DOID:0050799 DOID:0050799 guanidinoacetate methyltransferase deficiency Disease_Ontology DOID:0050800 DOID:0050800 cerebral creatine deficiency syndrome 1 Disease_Ontology DOID:0050801 DOID:0050801 androgenic alopecia Disease_Ontology DOID:0050802 DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 Disease_Ontology DOID:0050803 DOID:0050803 glioblastoma classical subtype Disease_Ontology DOID:0050804 DOID:0050804 glioblastoma proneural subtype Disease_Ontology DOID:0050805 DOID:0050805 glioblastoma mesenchymal subtype Disease_Ontology DOID:0050806 DOID:0050806 glioblastoma neural subtype Disease_Ontology DOID:0050807 DOID:0050807 Kahrizi syndrome Disease_Ontology DOID:0050809 DOID:0050809 mucopolysaccharidosis IX Disease_Ontology DOID:0050810 DOID:0050810 biotin deficiency Disease_Ontology DOID:0050811 DOID:0050811 congenital adrenal hyperplasia Disease_Ontology DOID:0050812 DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type Disease_Ontology DOID:0050813 DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations Disease_Ontology DOID:0050814 DOID:0050814 temtamy preaxial brachydactyly syndrome Disease_Ontology DOID:0050816 DOID:0050816 urofacial syndrome Disease_Ontology DOID:0050817 DOID:0050817 Stargardt disease Disease_Ontology DOID:0050818 DOID:0050818 transcobalamin II deficiency Disease_Ontology DOID:0050820 DOID:0050820 atrioventricular block Disease_Ontology DOID:0050821 DOID:0050821 first-degree atrioventricular block Disease_Ontology DOID:0050822 DOID:0050822 second-degree atrioventricular block Disease_Ontology DOID:0050823 DOID:0050823 third-degree atrioventricular block Disease_Ontology DOID:0050824 DOID:0050824 sinoatrial node disease Disease_Ontology DOID:0050825 DOID:0050825 endocardium disease Disease_Ontology DOID:0050826 DOID:0050826 tricuspid valve disease Disease_Ontology DOID:0050827 DOID:0050827 rheumatic heart disease Disease_Ontology DOID:0050828 DOID:0050828 artery disease Disease_Ontology DOID:0050829 DOID:0050829 pericardium disease Disease_Ontology DOID:0050830 DOID:0050830 peripheral artery disease Disease_Ontology DOID:0050831 DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies Disease_Ontology DOID:0050832 DOID:0050832 pyrimidine metabolic disorder Disease_Ontology DOID:0050833 DOID:0050833 orotic aciduria Disease_Ontology DOID:0050834 DOID:0050834 CHARGE syndrome Disease_Ontology DOID:0050835 DOID:0050835 generalized dystonia Disease_Ontology DOID:0050836 DOID:0050836 focal dystonia Disease_Ontology DOID:0050837 DOID:0050837 multifocal dystonia Disease_Ontology DOID:0050838 DOID:0050838 segmental dystonia Disease_Ontology DOID:0050839 DOID:0050839 anismus Disease_Ontology DOID:0050840 DOID:0050840 cervical dystonia Disease_Ontology DOID:0050841 DOID:0050841 focal hand dystonia Disease_Ontology DOID:0050842 DOID:0050842 oculogyric crisis Disease_Ontology DOID:0050843 DOID:0050843 oromandibular dystonia Disease_Ontology DOID:0050844 DOID:0050844 spasmodic dystonia Disease_Ontology DOID:0050845 DOID:0050845 cranio-facial dystonia Disease_Ontology DOID:0050846 DOID:0050846 hemidystonia Disease_Ontology DOID:0050847 DOID:0050847 sleep apnea Disease_Ontology DOID:0050848 DOID:0050848 obstructive sleep apnea Disease_Ontology DOID:0050849 DOID:0050849 periampullary adenoma Disease_Ontology DOID:0050850 DOID:0050850 diabetic encephalopathy Disease_Ontology DOID:0050851 DOID:0050851 glomerulosclerosis Disease_Ontology DOID:0050852 DOID:0050852 limb ischemia Disease_Ontology DOID:0050853 DOID:0050853 chronic venous insufficiency Disease_Ontology DOID:0050854 DOID:0050854 Muckle-Wells syndrome Disease_Ontology DOID:0050855 DOID:0050855 renal fibrosis Disease_Ontology DOID:0050856 DOID:0050856 oppositional defiant disorder Disease_Ontology DOID:0050857 DOID:0050857 Perrault syndrome Disease_Ontology DOID:0050858 DOID:0050858 Marshall-Smith syndrome Disease_Ontology DOID:0050859 DOID:0050859 hemorrhagic cystitis Disease_Ontology DOID:0050860 DOID:0050860 colorectal adenoma Disease_Ontology DOID:0050861 DOID:0050861 colorectal adenocarcinoma Disease_Ontology DOID:0050862 DOID:0050862 pyometritis Disease_Ontology DOID:0050863 DOID:0050863 arteritic anterior ischemic optic neuropathy Disease_Ontology DOID:0050864 DOID:0050864 non-arteritic anterior ischemic optic neuropathy Disease_Ontology DOID:0050865 DOID:0050865 tongue squamous cell carcinoma Disease_Ontology DOID:0050866 DOID:0050866 oral squamous cell carcinoma Disease_Ontology DOID:0050868 DOID:0050868 hepatocellular adenoma Disease_Ontology DOID:0050869 DOID:0050869 villous adenoma Disease_Ontology DOID:0050870 DOID:0050870 pulmonary adenocarcinoma in situ Disease_Ontology DOID:0050871 DOID:0050871 fibroma Disease_Ontology DOID:0050872 DOID:0050872 large cell neuroendocrine carcinoma Disease_Ontology DOID:0050873 DOID:0050873 follicular lymphoma Disease_Ontology DOID:0050876 DOID:0050876 Caroli disease Disease_Ontology DOID:0050877 DOID:0050877 pancreatic agenesis Disease_Ontology DOID:0050879 DOID:0050879 fragile X-associated tremor/ataxia syndrome Disease_Ontology DOID:0050880 DOID:0050880 Koolen de Vries syndrome Disease_Ontology DOID:0050881 DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia Disease_Ontology DOID:0050882 DOID:0050882 spinocerebellar ataxia 5 Disease_Ontology DOID:0050883 DOID:0050883 infantile cerebellar-retinal degeneration Disease_Ontology DOID:0050884 DOID:0050884 triosephosphate isomerase deficiency Disease_Ontology DOID:0050885 DOID:0050885 IMAGe syndrome Disease_Ontology DOID:0050886 DOID:0050886 Troyer syndrome Disease_Ontology DOID:0050887 DOID:0050887 Townes-Brocks syndrome Disease_Ontology DOID:0050888 DOID:0050888 syndromic intellectual disability Disease_Ontology DOID:0050889 DOID:0050889 non-syndromic intellectual disability Disease_Ontology DOID:0050890 DOID:0050890 synucleinopathy Disease_Ontology DOID:0050891 DOID:0050891 adrenal cortical adenoma Disease_Ontology DOID:0050892 DOID:0050892 adrenal gland pheochromocytoma Disease_Ontology DOID:0050893 DOID:0050893 gallbladder adenoma Disease_Ontology DOID:0050894 DOID:0050894 ameloblastoma Disease_Ontology DOID:0050895 DOID:0050895 bone ameloblastoma Disease_Ontology DOID:0050896 DOID:0050896 bone squamous cell carcinoma Disease_Ontology DOID:0050897 DOID:0050897 bone chondrosarcoma Disease_Ontology DOID:0050898 DOID:0050898 phalanx chondroma Disease_Ontology DOID:0050899 DOID:0050899 brain stem medulloblastoma Disease_Ontology DOID:0050900 DOID:0050900 sacrum chordoma Disease_Ontology DOID:0050901 DOID:0050901 corpus callosum oligodendroglioma Disease_Ontology DOID:0050902 DOID:0050902 medulloblastoma Disease_Ontology DOID:0050903 DOID:0050903 parietal lobe ependymoma Disease_Ontology DOID:0050904 DOID:0050904 salivary gland carcinoma Disease_Ontology DOID:0050905 DOID:0050905 inflammatory myofibroblastic tumor Disease_Ontology DOID:0050906 DOID:0050906 conjunctival nevus Disease_Ontology DOID:0050907 DOID:0050907 mixed extragonadal germ cell cancer Disease_Ontology DOID:0050908 DOID:0050908 myelodysplastic syndrome Disease_Ontology DOID:0050909 DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Disease_Ontology DOID:0050910 DOID:0050910 cecum adenoma Disease_Ontology DOID:0050911 DOID:0050911 appendix carcinoid tumor Disease_Ontology DOID:0050912 DOID:0050912 colon adenoma Disease_Ontology DOID:0050913 DOID:0050913 large intestine adenocarcinoma Disease_Ontology DOID:0050914 DOID:0050914 large intestine adenoma Disease_Ontology DOID:0050915 DOID:0050915 rectal adenoma Disease_Ontology DOID:0050916 DOID:0050916 bronchus mucoepidermoid carcinoma Disease_Ontology DOID:0050917 DOID:0050917 lung combined type small cell adenocarcinoma Disease_Ontology DOID:0050918 DOID:0050918 vaginal carcinoma Disease_Ontology DOID:0050919 DOID:0050919 trachea mucoepidermoid carcinoma Disease_Ontology DOID:0050920 DOID:0050920 tonsil squamous cell carcinoma Disease_Ontology DOID:0050921 DOID:0050921 pharynx squamous cell carcinoma Disease_Ontology DOID:0050922 DOID:0050922 gastrointestinal carcinoma Disease_Ontology DOID:0050923 DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor Disease_Ontology DOID:0050924 DOID:0050924 striated muscle rhabdoid tumor Disease_Ontology DOID:0050925 DOID:0050925 small intestine carcinoid neuroendocrine tumor Disease_Ontology DOID:0050926 DOID:0050926 jejunal adenocarcinoma Disease_Ontology DOID:0050927 DOID:0050927 duodenum adenoma Disease_Ontology DOID:0050928 DOID:0050928 ovarian melanoma Disease_Ontology DOID:0050929 DOID:0050929 mucosal melanoma Disease_Ontology DOID:0050930 DOID:0050930 sublingual gland adenoid cystic carcinoma Disease_Ontology DOID:0050931 DOID:0050931 parotid gland adenoid cystic carcinoma Disease_Ontology DOID:0050932 DOID:0050932 lung mucoepidermoid carcinoma Disease_Ontology DOID:0050933 DOID:0050933 ovarian serous carcinoma Disease_Ontology DOID:0050934 DOID:0050934 ovarian clear cell carcinoma Disease_Ontology DOID:0050935 DOID:0050935 cervical neuroblastoma Disease_Ontology DOID:0050936 DOID:0050936 extra-adrenal pheochromocytoma Disease_Ontology DOID:0050937 DOID:0050937 retroperitoneal neuroblastoma Disease_Ontology DOID:0050938 DOID:0050938 breast lobular carcinoma Disease_Ontology DOID:0050939 DOID:0050939 uterine corpus endometrial carcinoma Disease_Ontology DOID:0050940 DOID:0050940 endocervical adenocarcinoma Disease_Ontology DOID:0050941 DOID:0050941 spastic ataxia 2 Disease_Ontology DOID:0050942 DOID:0050942 spastic ataxia 3 Disease_Ontology DOID:0050943 DOID:0050943 spastic ataxia 4 Disease_Ontology DOID:0050944 DOID:0050944 spastic ataxia 5 Disease_Ontology DOID:0050945 DOID:0050945 spastic ataxia 7 Disease_Ontology DOID:0050946 DOID:0050946 Charlevoix-Saguenay spastic ataxia Disease_Ontology DOID:0050947 DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria Disease_Ontology DOID:0050948 DOID:0050948 autosomal dominant hypophosphatemic rickets Disease_Ontology DOID:0050949 DOID:0050949 autosomal recessive hypophosphatemic rickets Disease_Ontology DOID:0050950 DOID:0050950 autosomal recessive cerebellar ataxia Disease_Ontology DOID:0050951 DOID:0050951 hereditary ataxia Disease_Ontology DOID:0050952 DOID:0050952 spastic ataxia Disease_Ontology DOID:0050953 DOID:0050953 X-linked hereditary ataxia Disease_Ontology DOID:0050954 DOID:0050954 spinocerebellar ataxia 1 Disease_Ontology DOID:0050955 DOID:0050955 spinocerebellar ataxia 2 Disease_Ontology DOID:0050956 DOID:0050956 spinocerebellar ataxia 6 Disease_Ontology DOID:0050957 DOID:0050957 spinocerebellar ataxia 4 Disease_Ontology DOID:0050958 DOID:0050958 spinocerebellar ataxia 7 Disease_Ontology DOID:0050959 DOID:0050959 spinocerebellar ataxia 8 Disease_Ontology DOID:0050960 DOID:0050960 spinocerebellar ataxia 10 Disease_Ontology DOID:0050961 DOID:0050961 spinocerebellar ataxia 11 Disease_Ontology DOID:0050962 DOID:0050962 spinocerebellar ataxia 12 Disease_Ontology DOID:0050963 DOID:0050963 spinocerebellar ataxia 13 Disease_Ontology DOID:0050964 DOID:0050964 spinocerebellar ataxia 14 Disease_Ontology DOID:0050965 DOID:0050965 spinocerebellar ataxia 15 Disease_Ontology DOID:0050967 DOID:0050967 spinocerebellar ataxia 17 Disease_Ontology DOID:0050968 DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy Disease_Ontology DOID:0050969 DOID:0050969 spinocerebellar ataxia 18 Disease_Ontology DOID:0050970 DOID:0050970 spinocerebellar ataxia 19/22 Disease_Ontology DOID:0050971 DOID:0050971 spinocerebellar ataxia 20 Disease_Ontology DOID:0050972 DOID:0050972 spinocerebellar ataxia 21 Disease_Ontology DOID:0050973 DOID:0050973 spinocerebellar ataxia 23 Disease_Ontology DOID:0050974 DOID:0050974 spinocerebellar ataxia 25 Disease_Ontology DOID:0050975 DOID:0050975 spinocerebellar ataxia 26 Disease_Ontology DOID:0050976 DOID:0050976 spinocerebellar ataxia 27A Disease_Ontology DOID:0050977 DOID:0050977 spinocerebellar ataxia 28 Disease_Ontology DOID:0050978 DOID:0050978 spinocerebellar ataxia 29 Disease_Ontology DOID:0050979 DOID:0050979 spinocerebellar ataxia 30 Disease_Ontology DOID:0050980 DOID:0050980 spinocerebellar ataxia 31 Disease_Ontology DOID:0050981 DOID:0050981 spinocerebellar ataxia 34 Disease_Ontology DOID:0050982 DOID:0050982 spinocerebellar ataxia 35 Disease_Ontology DOID:0050983 DOID:0050983 spinocerebellar ataxia 36 Disease_Ontology DOID:0050984 DOID:0050984 spinocerebellar ataxia 37 Disease_Ontology DOID:0050985 DOID:0050985 spinocerebellar ataxia 38 Disease_Ontology DOID:0050986 DOID:0050986 spinocerebellar ataxia 40 Disease_Ontology DOID:0050987 DOID:0050987 hypomyelinating leukoencephalopathy Disease_Ontology DOID:0050988 DOID:0050988 GRID2-related spinocerebellar ataxia Disease_Ontology DOID:0050989 DOID:0050989 episodic ataxia type 1 Disease_Ontology DOID:0050990 DOID:0050990 episodic ataxia type 2 Disease_Ontology DOID:0050991 DOID:0050991 episodic ataxia type 3 Disease_Ontology DOID:0050992 DOID:0050992 episodic ataxia type 4 Disease_Ontology DOID:0050993 DOID:0050993 episodic ataxia type 5 Disease_Ontology DOID:0050994 DOID:0050994 episodic ataxia type 6 Disease_Ontology DOID:0050995 DOID:0050995 episodic ataxia type 7 Disease_Ontology DOID:0050996 DOID:0050996 episodic ataxia type 8 Disease_Ontology DOID:0050997 DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome Disease_Ontology DOID:0050998 DOID:0050998 nonprogressive cerebellar ataxia with mental retardation Disease_Ontology DOID:0050999 DOID:0050999 autosomal recessive spinocerebellar ataxia 10 Disease_Ontology DOID:0051000 DOID:0051000 autoinflammatory disease Disease_Ontology DOID:0051001 DOID:0051001 congenital dyserythropoietic anemia type IIIb Disease_Ontology DOID:0051002 DOID:0051002 congenital dyserythropoietic anemia type IVb Disease_Ontology DOID:0051003 DOID:0051003 congenital nonspherocytic hemolytic anemia 1 Disease_Ontology DOID:0051004 DOID:0051004 congenital nonspherocytic hemolytic anemia 3 Disease_Ontology DOID:0051005 DOID:0051005 congenital nonspherocytic hemolytic anemia 4 Disease_Ontology DOID:0051006 DOID:0051006 congenital nonspherocytic hemolytic anemia 5 Disease_Ontology DOID:0051007 DOID:0051007 congenital nonspherocytic hemolytic anemia 8 Disease_Ontology DOID:0051008 DOID:0051008 congenital nonspherocytic hemolytic anemia 9 Disease_Ontology DOID:0051009 DOID:0051009 congenital nonspherocytic hemolytic anemia 10 Disease_Ontology DOID:0051010 DOID:0051010 Bryant-Li-Bhoj neurodevelopmental syndrome Disease_Ontology DOID:0051011 DOID:0051011 Bryant-Li-Bhoj neurodevelopmental syndrome 1 Disease_Ontology DOID:0051012 DOID:0051012 Bryant-Li-Bhoj neurodevelopmental syndrome 2 Disease_Ontology DOID:0051013 DOID:0051013 pseudohypoparathyroidism type 1C Disease_Ontology DOID:0051014 DOID:0051014 atypical autosomal dominant adult-onset demyelinating leukodystrophy Disease_Ontology DOID:0051015 DOID:0051015 adult onset demyelinating leukodystrophy Disease_Ontology DOID:0051016 DOID:0051016 visceral heterotaxy 1 Disease_Ontology DOID:0051017 DOID:0051017 visceral heterotaxy 2 Disease_Ontology DOID:0051018 DOID:0051018 visceral heterotaxy 3 Disease_Ontology DOID:0051019 DOID:0051019 visceral heterotaxy 4 Disease_Ontology DOID:0051020 DOID:0051020 visceral heterotaxy 6 Disease_Ontology DOID:0051021 DOID:0051021 visceral heterotaxy 7 Disease_Ontology DOID:0051022 DOID:0051022 visceral heterotaxy 8 Disease_Ontology DOID:0051023 DOID:0051023 visceral heterotaxy 9 Disease_Ontology DOID:0051024 DOID:0051024 visceral heterotaxy 10 Disease_Ontology DOID:0051025 DOID:0051025 visceral heterotaxy 11 Disease_Ontology DOID:0051026 DOID:0051026 visceral heterotaxy 12 Disease_Ontology DOID:0051027 DOID:0051027 visceral heterotaxy 13 Disease_Ontology DOID:0051028 DOID:0051028 autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis Disease_Ontology DOID:0051029 DOID:0051029 mitochondrial DNA depletion syndrome-21 Disease_Ontology DOID:0051030 DOID:0051030 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia Disease_Ontology DOID:0051031 DOID:0051031 primary autosomal recessive microcephaly 20 Disease_Ontology DOID:0051032 DOID:0051032 primary autosomal recessive microcephaly 21 Disease_Ontology DOID:0051033 DOID:0051033 primary autosomal recessive microcephaly 22 Disease_Ontology DOID:0051034 DOID:0051034 primary autosomal recessive microcephaly 23 Disease_Ontology DOID:0051035 DOID:0051035 primary autosomal recessive microcephaly 24 Disease_Ontology DOID:0051036 DOID:0051036 primary autosomal recessive microcephaly 25 Disease_Ontology DOID:0051037 DOID:0051037 autosomal dominant primary microcephaly 26 Disease_Ontology DOID:0051038 DOID:0051038 autosomal dominant primary microcephaly 27 Disease_Ontology DOID:0051039 DOID:0051039 primary autosomal recessive microcephaly 28 Disease_Ontology DOID:0051040 DOID:0051040 primary autosomal recessive microcephaly 29 Disease_Ontology DOID:0051041 DOID:0051041 primary autosomal recessive microcephaly 30 Disease_Ontology DOID:0051042 DOID:0051042 autosomal dominant distal hereditary motor neuronopathy 15 Disease_Ontology DOID:0051043 DOID:0051043 Charcot-Marie-Tooth disease axonal type 2JJ Disease_Ontology DOID:0051044 DOID:0051044 infantile-onset myofibrillar myopathy 12 with cardiomyopathy Disease_Ontology DOID:0051045 DOID:0051045 myofibrillar myopathy 13 with rimmed vacuoles Disease_Ontology DOID:0051046 DOID:0051046 spondyloepimetaphyseal dysplasia, Li-Shao-Li type Disease_Ontology DOID:0051047 DOID:0051047 congenital disorder of glycosylation type IIbb Disease_Ontology DOID:0051048 DOID:0051048 congenital disorder of glycosylation type IIr Disease_Ontology DOID:0051049 DOID:0051049 congenital disorder of glycosylation type IIt Disease_Ontology DOID:0051050 DOID:0051050 congenital disorder of glycosylation type IIv Disease_Ontology DOID:0051051 DOID:0051051 congenital disorder of glycosylation type IIw Disease_Ontology DOID:0051052 DOID:0051052 congenital disorder of glycosylation type IIy Disease_Ontology DOID:0051053 DOID:0051053 congenital disorder of glycosylation type IIz Disease_Ontology DOID:0051054 DOID:0051054 coarctation of the aorta Disease_Ontology DOID:0051055 DOID:0051055 46,XY gonadal dysgenesis with minifascicular neuropathy Disease_Ontology DOID:0051056 DOID:0051056 immunodeficiency 113 Disease_Ontology DOID:0051057 DOID:0051057 avoidant/restrictive food intake disorder Disease_Ontology DOID:0051058 DOID:0051058 acute calcific periarthritis Disease_Ontology DOID:0051059 DOID:0051059 autosomal recessive Segawa syndrome Disease_Ontology DOID:0051060 DOID:0051060 frontotemporal dementia 1 Disease_Ontology DOID:0051061 DOID:0051061 stroke Disease_Ontology DOID:0051062 DOID:0051062 ischemic stroke Disease_Ontology DOID:0051063 DOID:0051063 hemorrhagic stroke Disease_Ontology DOID:0051064 DOID:0051064 left ventricular failure Disease_Ontology DOID:0051065 DOID:0051065 chronic pancreatitis Disease_Ontology DOID:0051066 DOID:0051066 arterionephrosclerosis Disease_Ontology DOID:0051067 DOID:0051067 Fontaine progeroid syndrome Disease_Ontology DOID:0051068 DOID:0051068 early-onset obesity, adrenal insufficiency, and red hair Disease_Ontology DOID:0051069 DOID:0051069 Meier-Gorlin syndrome 9 Disease_Ontology DOID:0051070 DOID:0051070 Meier-Gorlin syndrome 10 Disease_Ontology DOID:0051071 DOID:0051071 neurodevelopmental disorder with seizures and impaired intellectual and language development Disease_Ontology DOID:0051072 DOID:0051072 neurodegenerative disorder with cerebellar and caudate atrophy Disease_Ontology DOID:0051073 DOID:0051073 dilated cardiomyopathy 3C Disease_Ontology DOID:0051074 DOID:0051074 primary autosomal recessive microcephaly 31 Disease_Ontology DOID:0051075 DOID:0051075 aggressive periodontitis 2 Disease_Ontology DOID:0051076 DOID:0051076 neurodevelopmental disorder with parkinsonism or other movement abnormalities Disease_Ontology DOID:0051077 DOID:0051077 diethylstilbestrol syndrome Disease_Ontology DOID:0051078 DOID:0051078 congenital anomalies of the kidney and urinary tract 3 Disease_Ontology DOID:0051080 DOID:0051080 Alport syndrome 3B Disease_Ontology DOID:0051081 DOID:0051081 polycystic kidney disease 8 Disease_Ontology DOID:0051082 DOID:0051082 Parkinson's disease 27 Disease_Ontology DOID:0051083 DOID:0051083 developmental and epileptic encephalopathy 111 Disease_Ontology DOID:0051084 DOID:0051084 developmental and epileptic encephalopathy 112 Disease_Ontology DOID:0051085 DOID:0051085 developmental and epileptic encephalopathy 113 Disease_Ontology DOID:0051086 DOID:0051086 developmental and epileptic encephalopathy 114 Disease_Ontology DOID:0051087 DOID:0051087 developmental and epileptic encephalopathy 115 Disease_Ontology DOID:0051088 DOID:0051088 developmental and epileptic encephalopathy 119 Disease_Ontology DOID:0051089 DOID:0051089 developmental and epileptic encephalopathy 120 Disease_Ontology DOID:0051090 DOID:0051090 developmental and epileptic encephalopathy 121 Disease_Ontology DOID:0051091 DOID:0051091 developmental and epileptic encephalopathy 122 Disease_Ontology DOID:0051092 DOID:0051092 Damseh-Danson neurodevelopmental disorder Disease_Ontology DOID:0051093 DOID:0051093 retinitis pigmentosa 102 Disease_Ontology DOID:0051094 DOID:0051094 retinitis pigmentosa 103 Disease_Ontology DOID:0051095 DOID:0051095 retinitis pigmentosa 104 Disease_Ontology DOID:0051096 DOID:0051096 retinitis pigmentosa 105 Disease_Ontology DOID:0051097 DOID:0051097 retinitis pigmentosa 106 Disease_Ontology DOID:0051098 DOID:0051098 retinitis pigmentosa 107 Disease_Ontology DOID:0051099 DOID:0051099 Paget disease of bone 7 Disease_Ontology DOID:0060000 DOID:0060000 infective endocarditis Disease_Ontology DOID:0060001 DOID:0060001 withdrawal disorder Disease_Ontology DOID:0060002 DOID:0060002 C1 inhibitor deficiency Disease_Ontology DOID:0060004 DOID:0060004 autoimmune disease of central nervous system Disease_Ontology DOID:0060005 DOID:0060005 autoimmune disease of endocrine system Disease_Ontology DOID:0060007 DOID:0060007 CD3zeta deficiency Disease_Ontology DOID:0060008 DOID:0060008 janus kinase-3 deficiency Disease_Ontology DOID:0060009 DOID:0060009 MHC class I deficiency Disease_Ontology DOID:0060010 DOID:0060010 Omenn syndrome Disease_Ontology DOID:0060011 DOID:0060011 recombinase activating gene 1 deficiency Disease_Ontology DOID:0060012 DOID:0060012 recombinase activating gene 2 deficiency Disease_Ontology DOID:0060013 DOID:0060013 X-linked severe combined immunodeficiency Disease_Ontology DOID:0060014 DOID:0060014 CD45 deficiency Disease_Ontology DOID:0060016 DOID:0060016 CD3delta deficiency Disease_Ontology DOID:0060017 DOID:0060017 CD3epsilon deficiency Disease_Ontology DOID:0060018 DOID:0060018 CD3gamma deficiency Disease_Ontology DOID:0060019 DOID:0060019 coronin-1A deficiency Disease_Ontology DOID:0060020 DOID:0060020 reticular dysgenesis Disease_Ontology DOID:0060021 DOID:0060021 DNA ligase IV deficiency Disease_Ontology DOID:0060022 DOID:0060022 CD40 ligand deficiency Disease_Ontology DOID:0060023 DOID:0060023 immunodeficiency with hyper IgM type 3 Disease_Ontology DOID:0060024 DOID:0060024 lambda 5 deficiency Disease_Ontology DOID:0060025 DOID:0060025 immunoglobulin alpha deficiency Disease_Ontology DOID:0060026 DOID:0060026 immunoglobulin beta deficiency Disease_Ontology DOID:0060027 DOID:0060027 agammaglobulinemia 4 Disease_Ontology DOID:0060028 DOID:0060028 Good syndrome Disease_Ontology DOID:0060029 DOID:0060029 autoimmune disease of exocrine system Disease_Ontology DOID:0060030 DOID:0060030 autoimmune disease of eyes, ear, nose and throat Disease_Ontology DOID:0060031 DOID:0060031 autoimmune disease of gastrointestinal tract Disease_Ontology DOID:0060032 DOID:0060032 autoimmune disease of musculoskeletal system Disease_Ontology DOID:0060033 DOID:0060033 autoimmune disease of peripheral nervous system Disease_Ontology DOID:0060034 DOID:0060034 dropped head syndrome Disease_Ontology DOID:0060036 DOID:0060036 intrinsic cardiomyopathy Disease_Ontology DOID:0060037 DOID:0060037 developmental disorder of mental health Disease_Ontology DOID:0060038 DOID:0060038 specific developmental disorder Disease_Ontology DOID:0060039 DOID:0060039 autoimmune disease of skin and connective tissue Disease_Ontology DOID:0060040 DOID:0060040 pervasive developmental disorder Disease_Ontology DOID:0060041 DOID:0060041 autism spectrum disorder Disease_Ontology DOID:0060042 DOID:0060042 atypical autism Disease_Ontology DOID:0060043 DOID:0060043 sexual health disorder Disease_Ontology DOID:0060044 DOID:0060044 paraphilia disorder Disease_Ontology DOID:0060045 DOID:0060045 Munchausen by proxy Disease_Ontology DOID:0060046 DOID:0060046 aphasia Disease_Ontology DOID:0060047 DOID:0060047 writing disorder Disease_Ontology DOID:0060048 DOID:0060048 nosophobia Disease_Ontology DOID:0060049 DOID:0060049 autoimmune disease of urogenital tract Disease_Ontology DOID:0060050 DOID:0060050 autoimmune disease of blood Disease_Ontology DOID:0060051 DOID:0060051 autoimmune disease of cardiovascular system Disease_Ontology DOID:0060054 DOID:0060054 autonomic peripheral neuropathy Disease_Ontology DOID:0060055 DOID:0060055 popliteal pterygium syndrome Disease_Ontology DOID:0060056 DOID:0060056 hypersensitivity reaction disease Disease_Ontology DOID:0060057 DOID:0060057 gluten allergy Disease_Ontology DOID:0060058 DOID:0060058 lymphoma Disease_Ontology DOID:0060060 DOID:0060060 non-Hodgkin lymphoma Disease_Ontology DOID:0060061 DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma Disease_Ontology DOID:0060062 DOID:0060062 autosomal dominant tubulointerstitial kidney disease Disease_Ontology DOID:0060063 DOID:0060063 sideroblastic anemia 1 Disease_Ontology DOID:0060065 DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 Disease_Ontology DOID:0060066 DOID:0060066 pyridoxine-responsive sideroblastic anemia Disease_Ontology DOID:0060067 DOID:0060067 Pearson syndrome Disease_Ontology DOID:0060068 DOID:0060068 nonbacterial thrombotic endocarditis Disease_Ontology DOID:0060071 DOID:0060071 pre-malignant neoplasm Disease_Ontology DOID:0060072 DOID:0060072 benign neoplasm Disease_Ontology DOID:0060073 DOID:0060073 lymphatic system cancer Disease_Ontology DOID:0060074 DOID:0060074 ductal carcinoma in situ Disease_Ontology DOID:0060075 DOID:0060075 estrogen-receptor positive breast cancer Disease_Ontology DOID:0060076 DOID:0060076 estrogen-receptor negative breast cancer Disease_Ontology DOID:0060077 DOID:0060077 progesterone-receptor positive breast cancer Disease_Ontology DOID:0060078 DOID:0060078 progesterone-receptor negative breast cancer Disease_Ontology DOID:0060079 DOID:0060079 HER2 positive breast cancer Disease_Ontology DOID:0060080 DOID:0060080 HER2 negative breast cancer Disease_Ontology DOID:0060081 DOID:0060081 triple-negative breast cancer Disease_Ontology DOID:0060082 DOID:0060082 breast benign neoplasm Disease_Ontology DOID:0060083 DOID:0060083 immune system cancer Disease_Ontology DOID:0060084 DOID:0060084 cell type benign neoplasm Disease_Ontology DOID:0060085 DOID:0060085 organ system benign neoplasm Disease_Ontology DOID:0060086 DOID:0060086 female reproductive organ benign neoplasm Disease_Ontology DOID:0060087 DOID:0060087 male reproductive organ benign neoplasm Disease_Ontology DOID:0060088 DOID:0060088 vestibular gland benign neoplasm Disease_Ontology DOID:0060089 DOID:0060089 endocrine organ benign neoplasm Disease_Ontology DOID:0060090 DOID:0060090 central nervous system benign neoplasm Disease_Ontology DOID:0060091 DOID:0060091 cardiovascular organ benign neoplasm Disease_Ontology DOID:0060092 DOID:0060092 immune system organ benign neoplasm Disease_Ontology DOID:0060094 DOID:0060094 bone benign neoplasm Disease_Ontology DOID:0060095 DOID:0060095 uterine benign neoplasm Disease_Ontology DOID:0060096 DOID:0060096 sensory organ benign neoplasm Disease_Ontology DOID:0060097 DOID:0060097 thoracic benign neoplasm Disease_Ontology DOID:0060098 DOID:0060098 osteoblastoma Disease_Ontology DOID:0060099 DOID:0060099 musculoskeletal system benign neoplasm Disease_Ontology DOID:0060100 DOID:0060100 musculoskeletal system cancer Disease_Ontology DOID:0060102 DOID:0060102 cartilage cancer Disease_Ontology DOID:0060103 DOID:0060103 central nervous system embryonal tumor Disease_Ontology DOID:0060104 DOID:0060104 cerebellar medulloblastoma Disease_Ontology DOID:0060106 DOID:0060106 brain meningioma Disease_Ontology DOID:0060108 DOID:0060108 brain glioma Disease_Ontology DOID:0060109 DOID:0060109 vulvar benign neoplasm Disease_Ontology DOID:0060110 DOID:0060110 cervical benign neoplasm Disease_Ontology DOID:0060111 DOID:0060111 fallopian tube benign neoplasm Disease_Ontology DOID:0060112 DOID:0060112 ovarian benign neoplasm Disease_Ontology DOID:0060114 DOID:0060114 vaginal benign neoplasm Disease_Ontology DOID:0060115 DOID:0060115 nervous system benign neoplasm Disease_Ontology DOID:0060116 DOID:0060116 sensory system cancer Disease_Ontology DOID:0060117 DOID:0060117 peritoneal benign neoplasm Disease_Ontology DOID:0060118 DOID:0060118 thoracic disease Disease_Ontology DOID:0060119 DOID:0060119 pharynx cancer Disease_Ontology DOID:0060121 DOID:0060121 integumentary system benign neoplasm Disease_Ontology DOID:0060122 DOID:0060122 integumentary system cancer Disease_Ontology DOID:0060123 DOID:0060123 connective tissue benign neoplasm Disease_Ontology DOID:0060125 DOID:0060125 heavy chain disease Disease_Ontology DOID:0060126 DOID:0060126 alpha chain disease Disease_Ontology DOID:0060127 DOID:0060127 gamma heavy chain disease Disease_Ontology DOID:0060128 DOID:0060128 mu chain disease Disease_Ontology DOID:0060129 DOID:0060129 delta chain disease Disease_Ontology DOID:0060130 DOID:0060130 akinetopsia Disease_Ontology DOID:0060131 DOID:0060131 alexithymia Disease_Ontology DOID:0060132 DOID:0060132 amusia Disease_Ontology DOID:0060133 DOID:0060133 anosognosia Disease_Ontology DOID:0060134 DOID:0060134 apperceptive agnosia Disease_Ontology DOID:0060135 DOID:0060135 apraxia Disease_Ontology DOID:0060136 DOID:0060136 associative agnosia Disease_Ontology DOID:0060137 DOID:0060137 auditory agnosia Disease_Ontology DOID:0060138 DOID:0060138 autotopagnosia Disease_Ontology DOID:0060139 DOID:0060139 color agnosia Disease_Ontology DOID:0060140 DOID:0060140 cortical deafness Disease_Ontology DOID:0060141 DOID:0060141 finger agnosia Disease_Ontology DOID:0060142 DOID:0060142 form agnosia Disease_Ontology DOID:0060143 DOID:0060143 integrative agnosia Disease_Ontology DOID:0060144 DOID:0060144 mirror agnosia Disease_Ontology DOID:0060145 DOID:0060145 pain agnosia Disease_Ontology DOID:0060146 DOID:0060146 phonagnosia Disease_Ontology DOID:0060147 DOID:0060147 semantic agnosia Disease_Ontology DOID:0060148 DOID:0060148 simultanagnosia Disease_Ontology DOID:0060149 DOID:0060149 social emotional agnosia Disease_Ontology DOID:0060150 DOID:0060150 astereognosia Disease_Ontology DOID:0060151 DOID:0060151 tactile agnosia Disease_Ontology DOID:0060152 DOID:0060152 time agnosia Disease_Ontology DOID:0060153 DOID:0060153 topographical agnosia Disease_Ontology DOID:0060154 DOID:0060154 verbal auditory agnosia Disease_Ontology DOID:0060155 DOID:0060155 visual agnosia Disease_Ontology DOID:0060156 DOID:0060156 visual verbal agnosia Disease_Ontology DOID:0060157 DOID:0060157 diffuse alopecia areata Disease_Ontology DOID:0060158 DOID:0060158 acquired metabolic disease Disease_Ontology DOID:0060159 DOID:0060159 organic acidemia Disease_Ontology DOID:0060160 DOID:0060160 childhood spinal muscular atrophy Disease_Ontology DOID:0060161 DOID:0060161 Kennedy's disease Disease_Ontology DOID:0060162 DOID:0060162 dentatorubral-pallidoluysian atrophy Disease_Ontology DOID:0060163 DOID:0060163 body dysmorphic disorder Disease_Ontology DOID:0060164 DOID:0060164 pain disorder Disease_Ontology DOID:0060165 DOID:0060165 Kleine-Levin syndrome Disease_Ontology DOID:0060166 DOID:0060166 bipolar ll disorder Disease_Ontology DOID:0060167 DOID:0060167 seasonal affective disorder Disease_Ontology DOID:0060168 DOID:0060168 histidinemia Disease_Ontology DOID:0060169 DOID:0060169 benign familial infantile epilepsy Disease_Ontology DOID:0060170 DOID:0060170 generalized epilepsy with febrile seizures plus Disease_Ontology DOID:0060172 DOID:0060172 juvenile absence epilepsy Disease_Ontology DOID:0060173 DOID:0060173 Timothy syndrome Disease_Ontology DOID:0060174 DOID:0060174 GABA aminotransferase deficiency Disease_Ontology DOID:0060175 DOID:0060175 succinic semialdehyde dehydrogenase deficiency Disease_Ontology DOID:0060176 DOID:0060176 gamma-amino butyric acid metabolism disorder Disease_Ontology DOID:0060177 DOID:0060177 homocarnosinosis Disease_Ontology DOID:0060178 DOID:0060178 familial hemiplegic migraine Disease_Ontology DOID:0060179 DOID:0060179 Renpenning syndrome Disease_Ontology DOID:0060180 DOID:0060180 colitis Disease_Ontology DOID:0060181 DOID:0060181 ischemic colitis Disease_Ontology DOID:0060182 DOID:0060182 microscopic colitis Disease_Ontology DOID:0060183 DOID:0060183 collagenous colitis Disease_Ontology DOID:0060184 DOID:0060184 lymphocytic colitis Disease_Ontology DOID:0060185 DOID:0060185 Clostridium difficile colitis Disease_Ontology DOID:0060186 DOID:0060186 chemical colitis Disease_Ontology DOID:0060187 DOID:0060187 diversion colitis Disease_Ontology DOID:0060188 DOID:0060188 jejunoileitis Disease_Ontology DOID:0060189 DOID:0060189 ileitis Disease_Ontology DOID:0060190 DOID:0060190 ileocolitis Disease_Ontology DOID:0060191 DOID:0060191 gastroduodenal Crohn's disease Disease_Ontology DOID:0060192 DOID:0060192 Crohn's colitis Disease_Ontology DOID:0060193 DOID:0060193 amyotrophic lateral sclerosis type 1 Disease_Ontology DOID:0060194 DOID:0060194 amyotrophic lateral sclerosis type 2 Disease_Ontology DOID:0060195 DOID:0060195 amyotrophic lateral sclerosis type 3 Disease_Ontology DOID:0060196 DOID:0060196 amyotrophic lateral sclerosis type 4 Disease_Ontology DOID:0060197 DOID:0060197 amyotrophic lateral sclerosis type 5 Disease_Ontology DOID:0060198 DOID:0060198 amyotrophic lateral sclerosis type 6 Disease_Ontology DOID:0060199 DOID:0060199 amyotrophic lateral sclerosis type 7 Disease_Ontology DOID:0060200 DOID:0060200 amyotrophic lateral sclerosis type 9 Disease_Ontology DOID:0060201 DOID:0060201 amyotrophic lateral sclerosis type 10 Disease_Ontology DOID:0060202 DOID:0060202 amyotrophic lateral sclerosis type 11 Disease_Ontology DOID:0060203 DOID:0060203 amyotrophic lateral sclerosis type 12 Disease_Ontology DOID:0060204 DOID:0060204 amyotrophic lateral sclerosis type 13 Disease_Ontology DOID:0060205 DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Disease_Ontology DOID:0060206 DOID:0060206 amyotrophic lateral sclerosis type 15 Disease_Ontology DOID:0060207 DOID:0060207 amyotrophic lateral sclerosis type 16 Disease_Ontology DOID:0060209 DOID:0060209 amyotrophic lateral sclerosis type 18 Disease_Ontology DOID:0060210 DOID:0060210 amyotrophic lateral sclerosis type 19 Disease_Ontology DOID:0060211 DOID:0060211 amyotrophic lateral sclerosis type 20 Disease_Ontology DOID:0060212 DOID:0060212 amyotrophic lateral sclerosis type 21 Disease_Ontology DOID:0060213 DOID:0060213 C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis Disease_Ontology DOID:0060214 DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Disease_Ontology DOID:0060215 DOID:0060215 Balo concentric sclerosis Disease_Ontology DOID:0060216 DOID:0060216 Cogan syndrome Disease_Ontology DOID:0060217 DOID:0060217 Cogan-Reese syndrome Disease_Ontology DOID:0060218 DOID:0060218 CREST syndrome Disease_Ontology DOID:0060219 DOID:0060219 lymph node adenoid cystic carcinoma Disease_Ontology DOID:0060220 DOID:0060220 physical urticaria Disease_Ontology DOID:0060221 DOID:0060221 Maffucci syndrome Disease_Ontology DOID:0060222 DOID:0060222 Scheie syndrome Disease_Ontology DOID:0060223 DOID:0060223 agraphia Disease_Ontology DOID:0060224 DOID:0060224 atrial fibrillation Disease_Ontology DOID:0060225 DOID:0060225 3MC syndrome Disease_Ontology DOID:0060226 DOID:0060226 acrofrontofacionasal dysostosis Disease_Ontology DOID:0060227 DOID:0060227 Adams-Oliver syndrome Disease_Ontology DOID:0060228 DOID:0060228 intracranial berry aneurysm Disease_Ontology DOID:0060229 DOID:0060229 Baraitser-Winter syndrome Disease_Ontology DOID:0060230 DOID:0060230 basal ganglia calcification Disease_Ontology DOID:0060231 DOID:0060231 Bruck syndrome Disease_Ontology DOID:0060232 DOID:0060232 branchiootic syndrome Disease_Ontology DOID:0060233 DOID:0060233 cardiofaciocutaneous syndrome Disease_Ontology DOID:0060234 DOID:0060234 Carpenter syndrome Disease_Ontology DOID:0060235 DOID:0060235 carnitine palmitoyltransferase II deficiency Disease_Ontology DOID:0060236 DOID:0060236 xanthinuria Disease_Ontology DOID:0060237 DOID:0060237 Warburg micro syndrome Disease_Ontology DOID:0060238 DOID:0060238 Van Maldergem syndrome Disease_Ontology DOID:0060239 DOID:0060239 Van der Woude syndrome Disease_Ontology DOID:0060240 DOID:0060240 UV-sensitive syndrome Disease_Ontology DOID:0060241 DOID:0060241 3-M syndrome Disease_Ontology DOID:0060242 DOID:0060242 synpolydactyly Disease_Ontology DOID:0060243 DOID:0060243 stuttering Disease_Ontology DOID:0060244 DOID:0060244 specific language impairment Disease_Ontology DOID:0060245 DOID:0060245 Mast syndrome Disease_Ontology DOID:0060246 DOID:0060246 MASA syndrome Disease_Ontology DOID:0060247 DOID:0060247 Smith-McCort dysplasia Disease_Ontology DOID:0060248 DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 Disease_Ontology DOID:0060249 DOID:0060249 scoliosis Disease_Ontology DOID:0060250 DOID:0060250 idiopathic scoliosis Disease_Ontology DOID:0060251 DOID:0060251 sclerosteosis Disease_Ontology DOID:0060252 DOID:0060252 sclerocornea Disease_Ontology DOID:0060253 DOID:0060253 scapuloperoneal myopathy Disease_Ontology DOID:0060254 DOID:0060254 Robinow syndrome Disease_Ontology DOID:0060255 DOID:0060255 rippling muscle disease 2 Disease_Ontology DOID:0060256 DOID:0060256 Dowling-Degos disease Disease_Ontology DOID:0060257 DOID:0060257 dyschromatosis symmetrica hereditaria Disease_Ontology DOID:0060258 DOID:0060258 reticulate acropigmentation of Kitamura Disease_Ontology DOID:0060259 DOID:0060259 renal-hepatic-pancreatic dysplasia Disease_Ontology DOID:0060260 DOID:0060260 ptosis Disease_Ontology DOID:0060261 DOID:0060261 congenital ptosis Disease_Ontology DOID:0060262 DOID:0060262 gallbladder disease Disease_Ontology DOID:0060263 DOID:0060263 porencephaly Disease_Ontology DOID:0060264 DOID:0060264 pontocerebellar hypoplasia Disease_Ontology DOID:0060265 DOID:0060265 pontocerebellar hypoplasia type 1A Disease_Ontology DOID:0060266 DOID:0060266 pontocerebellar hypoplasia type 1B Disease_Ontology DOID:0060267 DOID:0060267 pontocerebellar hypoplasia type 2A Disease_Ontology DOID:0060268 DOID:0060268 pontocerebellar hypoplasia type 2B Disease_Ontology DOID:0060269 DOID:0060269 pontocerebellar hypoplasia type 2C Disease_Ontology DOID:0060270 DOID:0060270 pontocerebellar hypoplasia type 2D Disease_Ontology DOID:0060271 DOID:0060271 pontocerebellar hypoplasia type 2E Disease_Ontology DOID:0060272 DOID:0060272 pontocerebellar hypoplasia type 3 Disease_Ontology DOID:0060273 DOID:0060273 pontocerebellar hypoplasia type 4 Disease_Ontology DOID:0060274 DOID:0060274 pontocerebellar hypoplasia type 5 Disease_Ontology DOID:0060275 DOID:0060275 pontocerebellar hypoplasia type 6 Disease_Ontology DOID:0060276 DOID:0060276 pontocerebellar hypoplasia type 7 Disease_Ontology DOID:0060277 DOID:0060277 pontocerebellar hypoplasia type 8 Disease_Ontology DOID:0060278 DOID:0060278 pontocerebellar hypoplasia type 9 Disease_Ontology DOID:0060279 DOID:0060279 pontocerebellar hypoplasia type 10 Disease_Ontology DOID:0060280 DOID:0060280 primary pigmented nodular adrenocortical disease Disease_Ontology DOID:0060281 DOID:0060281 photosensitive epilepsy Disease_Ontology DOID:0060282 DOID:0060282 persistent hyperplastic primary vitreous Disease_Ontology DOID:0060283 DOID:0060283 peeling skin syndrome Disease_Ontology DOID:0060284 DOID:0060284 paroxysmal nocturnal hemoglobinuria Disease_Ontology DOID:0060285 DOID:0060285 parietal foramina Disease_Ontology DOID:0060286 DOID:0060286 combined oxidative phosphorylation deficiency Disease_Ontology DOID:0060287 DOID:0060287 cornea plana Disease_Ontology DOID:0060288 DOID:0060288 omodysplasia Disease_Ontology DOID:0060289 DOID:0060289 Ohdo syndrome Disease_Ontology DOID:0060290 DOID:0060290 Ohdo syndrome, SBBYS variant Disease_Ontology DOID:0060291 DOID:0060291 oculodentodigital dysplasia Disease_Ontology DOID:0060292 DOID:0060292 X-linked chondrodysplasia punctata 1 Disease_Ontology DOID:0060293 DOID:0060293 autosomal dominant chondrodysplasia punctata Disease_Ontology DOID:0060294 DOID:0060294 cold-induced sweating syndrome Disease_Ontology DOID:0060295 DOID:0060295 complement component 2 deficiency Disease_Ontology DOID:0060296 DOID:0060296 congenital secretory chloride diarrhea 1 Disease_Ontology DOID:0060297 DOID:0060297 complement component 4a deficiency Disease_Ontology DOID:0060298 DOID:0060298 complement component 4b deficiency Disease_Ontology DOID:0060299 DOID:0060299 complement component 6 deficiency Disease_Ontology DOID:0060300 DOID:0060300 complement component 7 deficiency Disease_Ontology DOID:0060301 DOID:0060301 type I complement component 8 deficiency Disease_Ontology DOID:0060302 DOID:0060302 type II complement component 8 deficiency Disease_Ontology DOID:0060303 DOID:0060303 complement component 9 deficiency Disease_Ontology DOID:0060304 DOID:0060304 dyschromatosis universalis hereditaria Disease_Ontology DOID:0060305 DOID:0060305 megalocornea Disease_Ontology DOID:0060306 DOID:0060306 Meier-Gorlin syndrome Disease_Ontology DOID:0060307 DOID:0060307 autosomal dominant intellectual developmental disorder Disease_Ontology DOID:0060308 DOID:0060308 autosomal recessive intellectual developmental disorder Disease_Ontology DOID:0060309 DOID:0060309 syndromic X-linked intellectual disability Disease_Ontology DOID:0060310 DOID:0060310 uvulitis Disease_Ontology DOID:0060311 DOID:0060311 adenoid hypertrophy Disease_Ontology DOID:0060312 DOID:0060312 angular cheilitis Disease_Ontology DOID:0060313 DOID:0060313 tracheomalacia Disease_Ontology DOID:0060314 DOID:0060314 persistent generalized lymphadenopathy Disease_Ontology DOID:0060315 DOID:0060315 oral hairy leukoplakia Disease_Ontology DOID:0060316 DOID:0060316 orofaciodigital syndrome I Disease_Ontology DOID:0060317 DOID:0060317 lung abscess Disease_Ontology DOID:0060318 DOID:0060318 acute promyelocytic leukemia Disease_Ontology DOID:0060319 DOID:0060319 cardiac arrest Disease_Ontology DOID:0060320 DOID:0060320 inguinal hernia Disease_Ontology DOID:0060321 DOID:0060321 umbilical hernia Disease_Ontology DOID:0060322 DOID:0060322 mastoiditis Disease_Ontology DOID:0060323 DOID:0060323 breast abscess Disease_Ontology DOID:0060324 DOID:0060324 dental abscess Disease_Ontology DOID:0060325 DOID:0060325 cervical polyp Disease_Ontology DOID:0060326 DOID:0060326 myelomeningocele Disease_Ontology DOID:0060327 DOID:0060327 omphalocele Disease_Ontology DOID:0060328 DOID:0060328 anal fistula Disease_Ontology DOID:0060329 DOID:0060329 ectopic pregnancy Disease_Ontology DOID:0060330 DOID:0060330 Rapp-Hodgkin syndrome Disease_Ontology DOID:0060331 DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 Disease_Ontology DOID:0060332 DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 Disease_Ontology DOID:0060333 DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 Disease_Ontology DOID:0060334 DOID:0060334 transient neonatal diabetes mellitus Disease_Ontology DOID:0060335 DOID:0060335 autosomal dominant sideroblastic anemia 4 Disease_Ontology DOID:0060336 DOID:0060336 3-methylglutaconic aciduria Disease_Ontology DOID:0060337 DOID:0060337 CEDNIK syndrome Disease_Ontology DOID:0060338 DOID:0060338 parameningeal embryonal rhabdomyosarcoma Disease_Ontology DOID:0060339 DOID:0060339 chronic atrial and intestinal dysrhythmia Disease_Ontology DOID:0060340 DOID:0060340 ciliopathy Disease_Ontology DOID:0060341 DOID:0060341 agnathia-otocephaly complex Disease_Ontology DOID:0060342 DOID:0060342 acromelic frontonasal dysostosis Disease_Ontology DOID:0060343 DOID:0060343 glucocorticoid-induced osteoporosis Disease_Ontology DOID:0060344 DOID:0060344 acrodermatitis chronica atrophicans Disease_Ontology DOID:0060345 DOID:0060345 bacillary angiomatosis Disease_Ontology DOID:0060346 DOID:0060346 congenital myopathy 13 Disease_Ontology DOID:0060347 DOID:0060347 acrorenal syndrome Disease_Ontology DOID:0060348 DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome Disease_Ontology DOID:0060349 DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Disease_Ontology DOID:0060350 DOID:0060350 adenine phosphoribosyltransferase deficiency Disease_Ontology DOID:0060351 DOID:0060351 mitochondrial complex III deficiency nuclear type 2 Disease_Ontology DOID:0060352 DOID:0060352 Kleefstra syndrome 1 Disease_Ontology DOID:0060353 DOID:0060353 acrofacial dysostosis Cincinnati type Disease_Ontology DOID:0060354 DOID:0060354 Stormorken syndrome Disease_Ontology DOID:0060355 DOID:0060355 amyotrophic lateral sclerosis type 22 Disease_Ontology DOID:0060356 DOID:0060356 Vici syndrome Disease_Ontology DOID:0060357 DOID:0060357 chylomicron retention disease Disease_Ontology DOID:0060358 DOID:0060358 multiple acyl-CoA dehydrogenase deficiency Disease_Ontology DOID:0060359 DOID:0060359 Sakati-Nyhan syndrome Disease_Ontology DOID:0060360 DOID:0060360 hereditary papulotranslucent acrokeratoderma Disease_Ontology DOID:0060361 DOID:0060361 punctate palmoplantar keratoderma Disease_Ontology DOID:0060362 DOID:0060362 punctate palmoplantar keratoderma type III Disease_Ontology DOID:0060363 DOID:0060363 glycerol kinase deficiency Disease_Ontology DOID:0060364 DOID:0060364 Galloway-Mowat syndrome 1 Disease_Ontology DOID:0060365 DOID:0060365 mandibulofacial dysostosis with alopecia Disease_Ontology DOID:0060366 DOID:0060366 Hennekam syndrome Disease_Ontology DOID:0060367 DOID:0060367 Parkinson's disease 1 Disease_Ontology DOID:0060368 DOID:0060368 Parkinson's disease 2 Disease_Ontology DOID:0060369 DOID:0060369 Parkinson's disease 6 Disease_Ontology DOID:0060370 DOID:0060370 Parkinson's disease 7 Disease_Ontology DOID:0060371 DOID:0060371 Parkinson's disease 8 Disease_Ontology DOID:0060372 DOID:0060372 Parkinson's disease 15 Disease_Ontology DOID:0060373 DOID:0060373 orofaciodigital syndrome III Disease_Ontology DOID:0060374 DOID:0060374 orofaciodigital syndrome IV Disease_Ontology DOID:0060375 DOID:0060375 orofaciodigital syndrome V Disease_Ontology DOID:0060376 DOID:0060376 Joubert syndrome with orofaciodigital defect Disease_Ontology DOID:0060377 DOID:0060377 orofaciodigital syndrome VII Disease_Ontology DOID:0060378 DOID:0060378 orofaciodigital syndrome VIII Disease_Ontology DOID:0060379 DOID:0060379 acrofacial dysostosis Disease_Ontology DOID:0060380 DOID:0060380 orofaciodigital syndrome X Disease_Ontology DOID:0060381 DOID:0060381 orofaciodigital syndrome XI Disease_Ontology DOID:0060382 DOID:0060382 orofaciodigital syndrome IX Disease_Ontology DOID:0060383 DOID:0060383 acrofacial dysostosis Rodriguez type Disease_Ontology DOID:0060384 DOID:0060384 acrofacial dysostosis, Catania type Disease_Ontology DOID:0060385 DOID:0060385 acrofacial dysostosis, Patagonia type Disease_Ontology DOID:0060386 DOID:0060386 Chilblain lupus Disease_Ontology DOID:0060387 DOID:0060387 chondrodysplasia Blomstrand type Disease_Ontology DOID:0060388 DOID:0060388 chromosomal deletion syndrome Disease_Ontology DOID:0060389 DOID:0060389 chromosome 10q23 deletion syndrome Disease_Ontology DOID:0060390 DOID:0060390 distal 10q deletion syndrome Disease_Ontology DOID:0060391 DOID:0060391 chromosome 13q14 deletion syndrome Disease_Ontology DOID:0060392 DOID:0060392 chromosome 14q11-q22 deletion syndrome Disease_Ontology DOID:0060393 DOID:0060393 chromosome 15q11.2 deletion syndrome Disease_Ontology DOID:0060394 DOID:0060394 chromosome 15q13.3 microdeletion syndrome Disease_Ontology DOID:0060395 DOID:0060395 chromosome 15q24 deletion syndrome Disease_Ontology DOID:0060396 DOID:0060396 chromosome 15q25 deletion syndrome Disease_Ontology DOID:0060397 DOID:0060397 chromosome 15q26-qter deletion syndrome Disease_Ontology DOID:0060398 DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb Disease_Ontology DOID:0060399 DOID:0060399 chromosome 16p12.1 deletion syndrome Disease_Ontology DOID:0060400 DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome Disease_Ontology DOID:0060401 DOID:0060401 chromosome 16q22 deletion syndrome Disease_Ontology DOID:0060402 DOID:0060402 chromosome 17p13.1 deletion syndrome Disease_Ontology DOID:0060403 DOID:0060403 chromosome 17q11.2 deletion syndrome Disease_Ontology DOID:0060404 DOID:0060404 chromosome 17q12 deletion syndrome Disease_Ontology DOID:0060405 DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome Disease_Ontology DOID:0060406 DOID:0060406 chromosome 18p deletion syndrome Disease_Ontology DOID:0060407 DOID:0060407 chromosome 18q deletion syndrome Disease_Ontology DOID:0060408 DOID:0060408 chromosome 19q13.11 deletion syndrome Disease_Ontology DOID:0060409 DOID:0060409 NFIA-related disorder Disease_Ontology DOID:0060410 DOID:0060410 chromosome 1p36 deletion syndrome Disease_Ontology DOID:0060411 DOID:0060411 chromosome 1q21.1 deletion syndrome Disease_Ontology DOID:0060412 DOID:0060412 chromosome 1q41-q42 deletion syndrome Disease_Ontology DOID:0060413 DOID:0060413 chromosome 22q11.2 deletion syndrome, distal Disease_Ontology DOID:0060414 DOID:0060414 chromosome 2p12-p11.2 deletion syndrome Disease_Ontology DOID:0060415 DOID:0060415 chromosome 2p16.1-p15 deletion syndrome Disease_Ontology DOID:0060416 DOID:0060416 chromosome 2q31.2 deletion syndrome Disease_Ontology DOID:0060417 DOID:0060417 3p deletion syndrome Disease_Ontology DOID:0060418 DOID:0060418 chromosome 3q13.31 deletion syndrome Disease_Ontology DOID:0060419 DOID:0060419 chromosome 3q29 microdeletion syndrome Disease_Ontology DOID:0060420 DOID:0060420 chromosome 4q21 deletion syndrome Disease_Ontology DOID:0060421 DOID:0060421 chromosome 5q12 deletion syndrome Disease_Ontology DOID:0060422 DOID:0060422 chromosome 6pter-p24 deletion syndrome Disease_Ontology DOID:0060423 DOID:0060423 chromosome 6q11-q14 deletion syndrome Disease_Ontology DOID:0060424 DOID:0060424 chromosome 6q24-q25 deletion syndrome Disease_Ontology DOID:0060425 DOID:0060425 chromosome 8q21.11 deletion syndrome Disease_Ontology DOID:0060426 DOID:0060426 chromosome 19p13.13 deletion syndrome Disease_Ontology DOID:0060427 DOID:0060427 chromosome Xp21 deletion syndrome Disease_Ontology DOID:0060428 DOID:0060428 SATB2-associated syndrome Disease_Ontology DOID:0060429 DOID:0060429 chromosomal duplication syndrome Disease_Ontology DOID:0060430 DOID:0060430 chromosome 16p11.2 duplication syndrome Disease_Ontology DOID:0060431 DOID:0060431 chromosome 16p13.3 duplication syndrome Disease_Ontology DOID:0060432 DOID:0060432 chromosome 17p13.3 duplication syndrome Disease_Ontology DOID:0060433 DOID:0060433 chromosome 17q12 duplication syndrome Disease_Ontology DOID:0060434 DOID:0060434 chromosome 17q21.31 duplication syndrome Disease_Ontology DOID:0060435 DOID:0060435 chromosome 1q21.1 duplication syndrome Disease_Ontology DOID:0060436 DOID:0060436 chromosome 22q11.2 microduplication syndrome Disease_Ontology DOID:0060437 DOID:0060437 chromosome 22q13 duplication syndrome Disease_Ontology DOID:0060438 DOID:0060438 Cole-Carpenter syndrome Disease_Ontology DOID:0060439 DOID:0060439 lysinuric protein intolerance Disease_Ontology DOID:0060440 DOID:0060440 epithelial and subepithelial dystrophy Disease_Ontology DOID:0060441 DOID:0060441 epithelial-stromal TGFBI dystrophy Disease_Ontology DOID:0060442 DOID:0060442 stromal dystrophy Disease_Ontology DOID:0060443 DOID:0060443 corneal endothelial dystrophy Disease_Ontology DOID:0060444 DOID:0060444 granular corneal dystrophy 2 Disease_Ontology DOID:0060445 DOID:0060445 congenital stromal corneal dystrophy Disease_Ontology DOID:0060446 DOID:0060446 X-linked endothelial corneal dystrophy Disease_Ontology DOID:0060447 DOID:0060447 epithelial basement membrane dystrophy Disease_Ontology DOID:0060448 DOID:0060448 Fleck corneal dystrophy Disease_Ontology DOID:0060449 DOID:0060449 gelatinous drop-like corneal dystrophy Disease_Ontology DOID:0060450 DOID:0060450 Lisch epithelial corneal dystrophy Disease_Ontology DOID:0060451 DOID:0060451 Meesmann corneal dystrophy Disease_Ontology DOID:0060452 DOID:0060452 posterior amorphous corneal dystrophy Disease_Ontology DOID:0060453 DOID:0060453 Reis-Bucklers corneal dystrophy Disease_Ontology DOID:0060454 DOID:0060454 subepithelial mucinous corneal dystrophy Disease_Ontology DOID:0060455 DOID:0060455 Thiel-Behnke corneal dystrophy Disease_Ontology DOID:0060456 DOID:0060456 Schnyder corneal dystrophy Disease_Ontology DOID:0060457 DOID:0060457 posterior polymorphous corneal dystrophy Disease_Ontology DOID:0060458 DOID:0060458 chromosome 2q31.1 duplication syndrome Disease_Ontology DOID:0060459 DOID:0060459 chromosome 3q29 microduplication syndrome Disease_Ontology DOID:0060460 DOID:0060460 chromosome 5p13 duplication syndrome Disease_Ontology DOID:0060461 DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome Disease_Ontology DOID:0060462 DOID:0060462 Desbuquois dysplasia Disease_Ontology DOID:0060463 DOID:0060463 NUT midline carcinoma Disease_Ontology DOID:0060464 DOID:0060464 Feingold syndrome Disease_Ontology DOID:0060465 DOID:0060465 fibrochondrogenesis Disease_Ontology DOID:0060466 DOID:0060466 gingival fibromatosis Disease_Ontology DOID:0060467 DOID:0060467 humeroradial synostosis Disease_Ontology DOID:0060468 DOID:0060468 Holt-Oram syndrome Disease_Ontology DOID:0060469 DOID:0060469 Miller-Dieker lissencephaly syndrome Disease_Ontology DOID:0060470 DOID:0060470 salt and pepper syndrome Disease_Ontology DOID:0060471 DOID:0060471 fetal valproate syndrome Disease_Ontology DOID:0060472 DOID:0060472 Kindler syndrome Disease_Ontology DOID:0060473 DOID:0060473 Kabuki syndrome Disease_Ontology DOID:0060474 DOID:0060474 familial erythrocytosis 2 Disease_Ontology DOID:0060475 DOID:0060475 myoclonic-atonic epilepsy Disease_Ontology DOID:0060476 DOID:0060476 Perlman syndrome Disease_Ontology DOID:0060478 DOID:0060478 Zika fever Disease_Ontology DOID:0060479 DOID:0060479 Shwachman-Diamond syndrome Disease_Ontology DOID:0060480 DOID:0060480 left ventricular noncompaction Disease_Ontology DOID:0060481 DOID:0060481 Goldberg-Shprintzen syndrome Disease_Ontology DOID:0060482 DOID:0060482 oculoauricular syndrome Disease_Ontology DOID:0060483 DOID:0060483 MEDNIK syndrome Disease_Ontology DOID:0060484 DOID:0060484 EAST syndrome Disease_Ontology DOID:0060485 DOID:0060485 Mowat-Wilson syndrome Disease_Ontology DOID:0060486 DOID:0060486 Perry syndrome Disease_Ontology DOID:0060488 DOID:0060488 Pitt-Hopkins syndrome Disease_Ontology DOID:0060490 DOID:0060490 Schimke immuno-osseous dysplasia Disease_Ontology DOID:0060491 DOID:0060491 SPOAN syndrome Disease_Ontology DOID:0060492 DOID:0060492 chicken egg allergy Disease_Ontology DOID:0060495 DOID:0060495 shellfish allergy Disease_Ontology DOID:0060496 DOID:0060496 respiratory allergy Disease_Ontology DOID:0060497 DOID:0060497 pollen allergy Disease_Ontology DOID:0060498 DOID:0060498 Timothy grass allergy Disease_Ontology DOID:0060499 DOID:0060499 autoimmune neuropathy Disease_Ontology DOID:0060500 DOID:0060500 drug allergy Disease_Ontology DOID:0060501 DOID:0060501 metal allergy Disease_Ontology DOID:0060502 DOID:0060502 gastrointestinal allergy Disease_Ontology DOID:0060503 DOID:0060503 fruit allergy Disease_Ontology DOID:0060504 DOID:0060504 apple allergy Disease_Ontology DOID:0060505 DOID:0060505 apricot allergy Disease_Ontology DOID:0060506 DOID:0060506 cherry allergy Disease_Ontology DOID:0060507 DOID:0060507 Indian plum allergy Disease_Ontology DOID:0060508 DOID:0060508 orange allergy Disease_Ontology DOID:0060509 DOID:0060509 melon allergy Disease_Ontology DOID:0060510 DOID:0060510 peach allergy Disease_Ontology DOID:0060511 DOID:0060511 plum allergy Disease_Ontology DOID:0060512 DOID:0060512 tomato allergy Disease_Ontology DOID:0060513 DOID:0060513 fish allergy Disease_Ontology DOID:0060514 DOID:0060514 Atlantic cod allergy Disease_Ontology DOID:0060515 DOID:0060515 Atlantic salmon allergy Disease_Ontology DOID:0060516 DOID:0060516 carp allergy Disease_Ontology DOID:0060517 DOID:0060517 zebrafish allergy Disease_Ontology DOID:0060518 DOID:0060518 rainbow trout allergy Disease_Ontology DOID:0060519 DOID:0060519 beta-lactam allergy Disease_Ontology DOID:0060520 DOID:0060520 penicillin allergy Disease_Ontology DOID:0060521 DOID:0060521 cow milk allergy Disease_Ontology DOID:0060522 DOID:0060522 goat milk allergy Disease_Ontology DOID:0060523 DOID:0060523 mollusc allergy Disease_Ontology DOID:0060524 DOID:0060524 crustacean allergy Disease_Ontology DOID:0060525 DOID:0060525 brown shrimp allergy Disease_Ontology DOID:0060526 DOID:0060526 crab allergy Disease_Ontology DOID:0060527 DOID:0060527 Indian prawn allergy Disease_Ontology DOID:0060528 DOID:0060528 tiger prawn allergy Disease_Ontology DOID:0060529 DOID:0060529 white shrimp allergy Disease_Ontology DOID:0060530 DOID:0060530 snail allergy Disease_Ontology DOID:0060531 DOID:0060531 horned turban snail allergy Disease_Ontology DOID:0060532 DOID:0060532 latex allergy Disease_Ontology DOID:0060534 DOID:0060534 hepatoid adenocarcinoma Disease_Ontology DOID:0060535 DOID:0060535 Warsaw breakage syndrome Disease_Ontology DOID:0060536 DOID:0060536 mitochondrial complex I deficiency Disease_Ontology DOID:0060537 DOID:0060537 mitochondrial complex II deficiency Disease_Ontology DOID:0060538 DOID:0060538 purpura fulminans Disease_Ontology DOID:0060539 DOID:0060539 Hermansky-Pudlak syndrome 1 Disease_Ontology DOID:0060540 DOID:0060540 Hermansky-Pudlak syndrome 2 Disease_Ontology DOID:0060541 DOID:0060541 Hermansky-Pudlak syndrome 3 Disease_Ontology DOID:0060542 DOID:0060542 Hermansky-Pudlak syndrome 4 Disease_Ontology DOID:0060543 DOID:0060543 Hermansky-Pudlak syndrome 5 Disease_Ontology DOID:0060544 DOID:0060544 Hermansky-Pudlak syndrome 6 Disease_Ontology DOID:0060545 DOID:0060545 Hermansky-Pudlak syndrome 7 Disease_Ontology DOID:0060546 DOID:0060546 Hermansky-Pudlak syndrome 8 Disease_Ontology DOID:0060547 DOID:0060547 Hermansky-Pudlak syndrome 9 Disease_Ontology DOID:0060548 DOID:0060548 luminal breast carcinoma A Disease_Ontology DOID:0060549 DOID:0060549 Barber-Say syndrome Disease_Ontology DOID:0060550 DOID:0060550 ablepharon macrostomia syndrome Disease_Ontology DOID:0060551 DOID:0060551 poikiloderma with neutropenia Disease_Ontology DOID:0060556 DOID:0060556 Kufor-Rakeb syndrome Disease_Ontology DOID:0060557 DOID:0060557 ataxia-oculomotor apraxia 3 Disease_Ontology DOID:0060558 DOID:0060558 lethal congenital contracture syndrome Disease_Ontology DOID:0060559 DOID:0060559 lethal congenital contracture syndrome 1 Disease_Ontology DOID:0060560 DOID:0060560 lethal congenital contracture syndrome 2 Disease_Ontology DOID:0060562 DOID:0060562 anomalous left coronary artery from the pulmonary artery Disease_Ontology DOID:0060563 DOID:0060563 Char syndrome Disease_Ontology DOID:0060564 DOID:0060564 spinal disease Disease_Ontology DOID:0060565 DOID:0060565 Ritscher-Schinzel syndrome Disease_Ontology DOID:0060566 DOID:0060566 Holzgreve-Wagner-Rehder Syndrome Disease_Ontology DOID:0060567 DOID:0060567 erythema elevatum diutinum Disease_Ontology DOID:0060569 DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type Disease_Ontology DOID:0060570 DOID:0060570 cardiac tuberculosis Disease_Ontology DOID:0060571 DOID:0060571 Ritscher-Schinzel syndrome 1 Disease_Ontology DOID:0060572 DOID:0060572 Ritscher-Schinzel syndrome 2 Disease_Ontology DOID:0060573 DOID:0060573 von Willebrand's disease 1 Disease_Ontology DOID:0060574 DOID:0060574 von Willebrand's disease 2 Disease_Ontology DOID:0060575 DOID:0060575 3MC syndrome 1 Disease_Ontology DOID:0060576 DOID:0060576 3MC syndrome 2 Disease_Ontology DOID:0060577 DOID:0060577 3MC syndrome 3 Disease_Ontology DOID:0060578 DOID:0060578 Noonan syndrome 1 Disease_Ontology DOID:0060580 DOID:0060580 Noonan syndrome 2 Disease_Ontology DOID:0060581 DOID:0060581 Noonan syndrome 3 Disease_Ontology DOID:0060582 DOID:0060582 Noonan syndrome 4 Disease_Ontology DOID:0060583 DOID:0060583 Noonan syndrome 5 Disease_Ontology DOID:0060584 DOID:0060584 Noonan syndrome 6 Disease_Ontology DOID:0060585 DOID:0060585 Noonan syndrome 7 Disease_Ontology DOID:0060586 DOID:0060586 Noonan syndrome 8 Disease_Ontology DOID:0060587 DOID:0060587 Noonan syndrome 9 Disease_Ontology DOID:0060588 DOID:0060588 Noonan syndrome 10 Disease_Ontology DOID:0060589 DOID:0060589 Yunis-Varon syndrome Disease_Ontology DOID:0060590 DOID:0060590 XFE progeroid syndrome Disease_Ontology DOID:0060591 DOID:0060591 WHIM syndrome 1 Disease_Ontology DOID:0060592 DOID:0060592 B-cell adult acute lymphocytic leukemia Disease_Ontology DOID:0060597 DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative Disease_Ontology DOID:0060599 DOID:0060599 Nance-Horan syndrome Disease_Ontology DOID:0060601 DOID:0060601 alpha-2-plasmin inhibitor deficiency Disease_Ontology DOID:0060602 DOID:0060602 alpha-methylacyl-CoA racemase deficiency Disease_Ontology DOID:0060603 DOID:0060603 isolated anhidrosis with normal sweat glands Disease_Ontology DOID:0060604 DOID:0060604 ankyloglossia Disease_Ontology DOID:0060606 DOID:0060606 fetal nicotine spectrum disorder Disease_Ontology DOID:0060608 DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I Disease_Ontology DOID:0060609 DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II Disease_Ontology DOID:0060610 DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome Disease_Ontology DOID:0060611 DOID:0060611 abdominal obesity-metabolic syndrome Disease_Ontology DOID:0060612 DOID:0060612 abdominal obesity-metabolic syndrome 3 Disease_Ontology DOID:0060613 DOID:0060613 X-linked cleft palate with or without ankyloglossia Disease_Ontology DOID:0060614 DOID:0060614 ulnar-mammary syndrome Disease_Ontology DOID:0060638 DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism Disease_Ontology DOID:0060639 DOID:0060639 permanent neonatal diabetes mellitus Disease_Ontology DOID:0060640 DOID:0060640 ethylmalonic encephalopathy Disease_Ontology DOID:0060641 DOID:0060641 endocrine-cerebro-osteodysplasia syndrome Disease_Ontology DOID:0060642 DOID:0060642 recessive dystrophic epidermolysis bullosa Disease_Ontology DOID:0060643 DOID:0060643 primary sclerosing cholangitis Disease_Ontology DOID:0060644 DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome Disease_Ontology DOID:0060645 DOID:0060645 chronic recurrent multifocal osteomyelitis Disease_Ontology DOID:0060646 DOID:0060646 congenital chylothorax Disease_Ontology DOID:0060647 DOID:0060647 fetal encasement syndrome Disease_Ontology DOID:0060648 DOID:0060648 anterior segment dysgenesis Disease_Ontology DOID:0060649 DOID:0060649 congenital hereditary endothelial dystrophy of cornea Disease_Ontology DOID:0060650 DOID:0060650 dicarboxylic aminoaciduria Disease_Ontology DOID:0060651 DOID:0060651 MYH-9 related disease Disease_Ontology DOID:0060652 DOID:0060652 familial erythrocytosis 1 Disease_Ontology DOID:0060653 DOID:0060653 lethal congenital contracture syndrome 3 Disease_Ontology DOID:0060654 DOID:0060654 lethal congenital contracture syndrome 4 Disease_Ontology DOID:0060655 DOID:0060655 autosomal recessive congenital ichthyosis Disease_Ontology DOID:0060656 DOID:0060656 autosomal recessive congenital ichthyosis 1 Disease_Ontology DOID:0060668 DOID:0060668 anencephaly Disease_Ontology DOID:0060669 DOID:0060669 cerebral cavernous malformation Disease_Ontology DOID:0060670 DOID:0060670 cerebral cavernous malformation 2 Disease_Ontology DOID:0060671 DOID:0060671 cerebral cavernous malformation 3 Disease_Ontology DOID:0060672 DOID:0060672 frontotemporal dementia 2 Disease_Ontology DOID:0060673 DOID:0060673 Peters anomaly Disease_Ontology DOID:0060674 DOID:0060674 catecholaminergic polymorphic ventricular tachycardia Disease_Ontology DOID:0060675 DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 Disease_Ontology DOID:0060676 DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 Disease_Ontology DOID:0060677 DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 Disease_Ontology DOID:0060678 DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 Disease_Ontology DOID:0060679 DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 Disease_Ontology DOID:0060680 DOID:0060680 pigment dispersion syndrome Disease_Ontology DOID:0060681 DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy Disease_Ontology DOID:0060682 DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 Disease_Ontology DOID:0060683 DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 Disease_Ontology DOID:0060684 DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 Disease_Ontology DOID:0060685 DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 Disease_Ontology DOID:0060686 DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 Disease_Ontology DOID:0060688 DOID:0060688 arteriovenous malformations of the brain Disease_Ontology DOID:0060689 DOID:0060689 atrichia with papular lesions Disease_Ontology DOID:0060690 DOID:0060690 autosomal dominant auditory neuropathy 1 Disease_Ontology DOID:0060691 DOID:0060691 platelet-type bleeding disorder 16 Disease_Ontology DOID:0060692 DOID:0060692 platelet-type bleeding disorder 8 Disease_Ontology DOID:0060693 DOID:0060693 Brunner Syndrome Disease_Ontology DOID:0060694 DOID:0060694 Cayman type cerebellar ataxia Disease_Ontology DOID:0060695 DOID:0060695 hyperekplexia Disease_Ontology DOID:0060696 DOID:0060696 hyperekplexia 1 Disease_Ontology DOID:0060697 DOID:0060697 hyperekplexia 2 Disease_Ontology DOID:0060698 DOID:0060698 hyperekplexia 3 Disease_Ontology DOID:0060699 DOID:0060699 familial hypocalciuric hypercalcemia Disease_Ontology DOID:0060700 DOID:0060700 familial hypocalciuric hypercalcemia 1 Disease_Ontology DOID:0060701 DOID:0060701 familial hypocalciuric hypercalcemia 2 Disease_Ontology DOID:0060702 DOID:0060702 familial hypocalciuric hypercalcemia 3 Disease_Ontology DOID:0060703 DOID:0060703 Muenke Syndrome Disease_Ontology DOID:0060704 DOID:0060704 lymphoproliferative syndrome Disease_Ontology DOID:0060705 DOID:0060705 X-linked lymphoproliferative syndrome 1 Disease_Ontology DOID:0060706 DOID:0060706 X-linked lymphoproliferative syndrome 2 Disease_Ontology DOID:0060707 DOID:0060707 lymphoproliferative syndrome 1 Disease_Ontology DOID:0060708 DOID:0060708 lymphoproliferative syndrome 2 Disease_Ontology DOID:0060710 DOID:0060710 autosomal recessive congenital ichthyosis 2 Disease_Ontology DOID:0060711 DOID:0060711 autosomal recessive congenital ichthyosis 3 Disease_Ontology DOID:0060712 DOID:0060712 autosomal recessive congenital ichthyosis 4A Disease_Ontology DOID:0060713 DOID:0060713 autosomal recessive congenital ichthyosis 4B Disease_Ontology DOID:0060714 DOID:0060714 autosomal recessive congenital ichthyosis 5 Disease_Ontology DOID:0060715 DOID:0060715 autosomal recessive congenital ichthyosis 6 Disease_Ontology DOID:0060716 DOID:0060716 autosomal recessive congenital ichthyosis 7 Disease_Ontology DOID:0060717 DOID:0060717 autosomal recessive congenital ichthyosis 8 Disease_Ontology DOID:0060718 DOID:0060718 autosomal recessive congenital ichthyosis 9 Disease_Ontology DOID:0060719 DOID:0060719 autosomal recessive congenital ichthyosis 10 Disease_Ontology DOID:0060720 DOID:0060720 autosomal recessive congenital ichthyosis 11 Disease_Ontology DOID:0060728 DOID:0060728 congenital disorder of deglycosylation 1 Disease_Ontology DOID:0060730 DOID:0060730 torsion dystonia 1 Disease_Ontology DOID:0060731 DOID:0060731 congenital central hypoventilation syndrome Disease_Ontology DOID:0060732 DOID:0060732 chromosome 9p deletion syndrome Disease_Ontology DOID:0060733 DOID:0060733 junctional epidermolysis bullosa with pyloric atresia Disease_Ontology DOID:0060735 DOID:0060735 generalized severe epidermolysis bullosa simplex 1A Disease_Ontology DOID:0060736 DOID:0060736 epidermolysis bullosa simplex 5A Ogna type Disease_Ontology DOID:0060737 DOID:0060737 junctional epidermolysis bullosa Herlitz type Disease_Ontology DOID:0060738 DOID:0060738 junctional epidermolysis bullosa non-Herlitz type Disease_Ontology DOID:0060739 DOID:0060739 hand-foot-genital syndrome Disease_Ontology DOID:0060740 DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Disease_Ontology DOID:0060741 DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect Disease_Ontology DOID:0060742 DOID:0060742 methylmalonic acidemia cblA type Disease_Ontology DOID:0060743 DOID:0060743 methylmalonic acidemia cblB type Disease_Ontology DOID:0060744 DOID:0060744 Pendred Syndrome Disease_Ontology DOID:0060745 DOID:0060745 Doyne honeycomb retinal dystrophy Disease_Ontology DOID:0060746 DOID:0060746 basal laminar drusen Disease_Ontology DOID:0060747 DOID:0060747 Duane-radial ray syndrome Disease_Ontology DOID:0060748 DOID:0060748 familial temporal lobe epilepsy 1 Disease_Ontology DOID:0060749 DOID:0060749 familial temporal lobe epilepsy 6 Disease_Ontology DOID:0060750 DOID:0060750 familial temporal lobe epilepsy 3 Disease_Ontology DOID:0060751 DOID:0060751 familial temporal lobe epilepsy 7 Disease_Ontology DOID:0060752 DOID:0060752 familial temporal lobe epilepsy 5 Disease_Ontology DOID:0060753 DOID:0060753 familial temporal lobe epilepsy 4 Disease_Ontology DOID:0060754 DOID:0060754 familial temporal lobe epilepsy 8 Disease_Ontology DOID:0060755 DOID:0060755 familial temporal lobe epilepsy 2 Disease_Ontology DOID:0060756 DOID:0060756 sclerosteosis 1 Disease_Ontology DOID:0060757 DOID:0060757 sclerosteosis 2 Disease_Ontology DOID:0060758 DOID:0060758 immunodeficiency with hyper-IgM type 2 Disease_Ontology DOID:0060759 DOID:0060759 immunodeficiency with hyper IgM type 5 Disease_Ontology DOID:0060760 DOID:0060760 immunodeficiency with hyper-IgM type 4 Disease_Ontology DOID:0060761 DOID:0060761 familial chronic myelocytic leukemia-like syndrome Disease_Ontology DOID:0060762 DOID:0060762 restrictive dermopathy Disease_Ontology DOID:0060763 DOID:0060763 X-linked juvenile retinoschisis 1 Disease_Ontology DOID:0060764 DOID:0060764 autosomal recessive Robinow syndrome Disease_Ontology DOID:0060765 DOID:0060765 autosomal dominant Robinow syndrome 2 Disease_Ontology DOID:0060766 DOID:0060766 autosomal dominant Robinow syndrome 1 Disease_Ontology DOID:0060767 DOID:0060767 autosomal dominant Robinow syndrome 3 Disease_Ontology DOID:0060768 DOID:0060768 Smith-Magenis syndrome Disease_Ontology DOID:0060769 DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy Disease_Ontology DOID:0060770 DOID:0060770 dextro-looped transposition of the great arteries Disease_Ontology DOID:0060772 DOID:0060772 multiple types of congenital heart defects 6 Disease_Ontology DOID:0060773 DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome Disease_Ontology DOID:0060774 DOID:0060774 congenital diarrhea Disease_Ontology DOID:0060775 DOID:0060775 microvillus inclusion disease Disease_Ontology DOID:0060776 DOID:0060776 congenital diarrhea 5 with tufting enteropathy Disease_Ontology DOID:0060777 DOID:0060777 congenital secretory sodium diarrhea 8 Disease_Ontology DOID:0060778 DOID:0060778 congenital diarrhea 7 with exudative enteropathy Disease_Ontology DOID:0060779 DOID:0060779 congenital malabsorptive diarrhea 4 Disease_Ontology DOID:0060780 DOID:0060780 congenital diarrhea 6 Disease_Ontology DOID:0060781 DOID:0060781 congenital secretory sodium diarrhea 3 Disease_Ontology DOID:0060782 DOID:0060782 EEC syndrome Disease_Ontology DOID:0060783 DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Disease_Ontology DOID:0060784 DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Disease_Ontology DOID:0060785 DOID:0060785 typical adult-onset autosomal dominant demyelinating leukodystrophy Disease_Ontology DOID:0060786 DOID:0060786 hypomyelinating leukodystrophy Disease_Ontology DOID:0060787 DOID:0060787 hypomyelinating leukodystrophy 2 Disease_Ontology DOID:0060788 DOID:0060788 hypomyelinating leukodystrophy 10 Disease_Ontology DOID:0060789 DOID:0060789 hypomyelinating leukodystrophy 4 Disease_Ontology DOID:0060790 DOID:0060790 hypomyelinating leukodystrophy 3 Disease_Ontology DOID:0060791 DOID:0060791 hypomyelinating leukodystrophy 9 Disease_Ontology DOID:0060792 DOID:0060792 hypomyelinating leukodystrophy 11 Disease_Ontology DOID:0060793 DOID:0060793 hypomyelinating leukodystrophy 5 Disease_Ontology DOID:0060794 DOID:0060794 hypomyelinating leukodystrophy 7 Disease_Ontology DOID:0060795 DOID:0060795 hypomyelinating leukodystrophy 13 Disease_Ontology DOID:0060796 DOID:0060796 hypomyelinating leukodystrophy 12 Disease_Ontology DOID:0060797 DOID:0060797 hypomyelinating leukodystrophy 8 Disease_Ontology DOID:0060798 DOID:0060798 hypomyelinating leukodystrophy 6 Disease_Ontology DOID:0060799 DOID:0060799 syndromic X-linked intellectual disability Lubs type Disease_Ontology DOID:0060800 DOID:0060800 syndromic X-linked intellectual disability 5 Disease_Ontology DOID:0060801 DOID:0060801 MEHMO syndrome Disease_Ontology DOID:0060802 DOID:0060802 syndromic X-linked intellectual disability Snyder type Disease_Ontology DOID:0060803 DOID:0060803 syndromic X-linked intellectual disability 17 Disease_Ontology DOID:0060804 DOID:0060804 syndromic X-linked intellectual disability 12 Disease_Ontology DOID:0060805 DOID:0060805 Prieto syndrome Disease_Ontology DOID:0060806 DOID:0060806 syndromic X-linked intellectual disability Hedera type Disease_Ontology DOID:0060807 DOID:0060807 syndromic X-linked intellectual disability Najm type Disease_Ontology DOID:0060808 DOID:0060808 syndromic X-linked intellectual disability 7 Disease_Ontology DOID:0060809 DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type Disease_Ontology DOID:0060810 DOID:0060810 syndromic X-linked intellectual disability type 10 Disease_Ontology DOID:0060811 DOID:0060811 syndromic X-linked intellectual disability Turner type Disease_Ontology DOID:0060812 DOID:0060812 syndromic X-linked intellectual disability Siderius type Disease_Ontology DOID:0060813 DOID:0060813 syndromic X-linked intellectual disability Shrimpton type Disease_Ontology DOID:0060814 DOID:0060814 Wilson-Turner syndrome Disease_Ontology DOID:0060815 DOID:0060815 Wieacker-Wolff syndrome Disease_Ontology DOID:0060816 DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Disease_Ontology DOID:0060817 DOID:0060817 syndromic X-linked intellectual disability 34 Disease_Ontology DOID:0060818 DOID:0060818 syndromic X-linked intellectual disability Abidi type Disease_Ontology DOID:0060819 DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type Disease_Ontology DOID:0060820 DOID:0060820 syndromic X-linked intellectual disability Nascimento type Disease_Ontology DOID:0060821 DOID:0060821 syndromic X-linked intellectual disability 14 Disease_Ontology DOID:0060822 DOID:0060822 syndromic X-linked intellectual disability Cabezas type Disease_Ontology DOID:0060823 DOID:0060823 syndromic X-linked intellectual disability 94 Disease_Ontology DOID:0060824 DOID:0060824 syndromic X-linked intellectual disability Raymond type Disease_Ontology DOID:0060825 DOID:0060825 Christianson syndrome Disease_Ontology DOID:0060826 DOID:0060826 syndromic X-linked intellectual disability Shashi type Disease_Ontology DOID:0060827 DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome Disease_Ontology DOID:0060828 DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Disease_Ontology DOID:0060830 DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome Disease_Ontology DOID:0060831 DOID:0060831 Griscelli syndrome Disease_Ontology DOID:0060832 DOID:0060832 Griscelli syndrome type 1 Disease_Ontology DOID:0060833 DOID:0060833 Griscelli syndrome type 2 Disease_Ontology DOID:0060834 DOID:0060834 Griscelli syndrome type 3 Disease_Ontology DOID:0060835 DOID:0060835 isolated microphthalmia 6 Disease_Ontology DOID:0060836 DOID:0060836 isolated microphthalmia 4 Disease_Ontology DOID:0060837 DOID:0060837 isolated microphthalmia 5 Disease_Ontology DOID:0060838 DOID:0060838 isolated microphthalmia 7 Disease_Ontology DOID:0060839 DOID:0060839 isolated microphthalmia 2 Disease_Ontology DOID:0060840 DOID:0060840 isolated microphthalmia 1 Disease_Ontology DOID:0060841 DOID:0060841 isolated microphthalmia 8 Disease_Ontology DOID:0060842 DOID:0060842 syndromic microphthalmia 16 Disease_Ontology DOID:0060843 DOID:0060843 hereditary neuropathy with liability to pressure palsies Disease_Ontology DOID:0060844 DOID:0060844 Norrie disease Disease_Ontology DOID:0060847 DOID:0060847 Leri-Weill dyschondrosteosis Disease_Ontology DOID:0060848 DOID:0060848 developmental and epileptic encephalopathy 9 Disease_Ontology DOID:0060849 DOID:0060849 osteoporosis-pseudoglioma syndrome Disease_Ontology DOID:0060850 DOID:0060850 annular pancreas Disease_Ontology DOID:0060851 DOID:0060851 pemphigus vulgaris Disease_Ontology DOID:0060852 DOID:0060852 Pierson syndrome Disease_Ontology DOID:0060853 DOID:0060853 Potocki-Lupski syndrome Disease_Ontology DOID:0060854 DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 Disease_Ontology DOID:0060855 DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 Disease_Ontology DOID:0060856 DOID:0060856 right atrial isomerism Disease_Ontology DOID:0060857 DOID:0060857 septooptic dysplasia Disease_Ontology DOID:0060858 DOID:0060858 hypotonia-cystinuria syndrome Disease_Ontology DOID:0060859 DOID:0060859 salmonellosis Disease_Ontology DOID:0060861 DOID:0060861 microphthalmia with limb anomalies Disease_Ontology DOID:0060862 DOID:0060862 mal de Meleda Disease_Ontology DOID:0060863 DOID:0060863 patterned macular dystrophy Disease_Ontology DOID:0060864 DOID:0060864 patterned macular dystrophy 2 Disease_Ontology DOID:0060865 DOID:0060865 patterned macular dystrophy 3 Disease_Ontology DOID:0060866 DOID:0060866 patterned macular dystrophy 1 Disease_Ontology DOID:0060867 DOID:0060867 macrocephaly-autism syndrome Disease_Ontology DOID:0060868 DOID:0060868 leukoencephalopathy with vanishing white matter Disease_Ontology DOID:0060869 DOID:0060869 late-onset retinal degeneration Disease_Ontology DOID:0060870 DOID:0060870 isolated growth hormone deficiency Disease_Ontology DOID:0060871 DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome Disease_Ontology DOID:0060872 DOID:0060872 isolated growth hormone deficiency type II Disease_Ontology DOID:0060873 DOID:0060873 isolated growth hormone deficiency type IA Disease_Ontology DOID:0060874 DOID:0060874 isolated growth hormone deficiency type IB Disease_Ontology DOID:0060875 DOID:0060875 isolated growth hormone deficiency type III Disease_Ontology DOID:0060877 DOID:0060877 bullous congenital ichthyosiform erythroderma Disease_Ontology DOID:0060878 DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome Disease_Ontology DOID:0060879 DOID:0060879 primary hypomagnesemia Disease_Ontology DOID:0060880 DOID:0060880 renal hypomagnesemia 3 Disease_Ontology DOID:0060881 DOID:0060881 renal hypomagnesemia 5 with ocular involvement Disease_Ontology DOID:0060882 DOID:0060882 renal hypomagnesemia 4 Disease_Ontology DOID:0060883 DOID:0060883 intestinal hypomagnesemia 1 Disease_Ontology DOID:0060884 DOID:0060884 renal hypomagnesemia 6 Disease_Ontology DOID:0060885 DOID:0060885 renal hypomagnesemia 2 Disease_Ontology DOID:0060886 DOID:0060886 osteopathia striata with cranial sclerosis Disease_Ontology DOID:0060887 DOID:0060887 ossification of the posterior longitudinal ligament of spine Disease_Ontology DOID:0060888 DOID:0060888 transient myeloproliferative syndrome Disease_Ontology DOID:0060889 DOID:0060889 prune belly syndrome Disease_Ontology DOID:0060890 DOID:0060890 ectopic Cushing syndrome Disease_Ontology DOID:0060891 DOID:0060891 Parkinson's disease 19A Disease_Ontology DOID:0060892 DOID:0060892 late onset Parkinson's disease Disease_Ontology DOID:0060893 DOID:0060893 juvenile-onset Parkinson's disease Disease_Ontology DOID:0060894 DOID:0060894 early-onset Parkinson's disease Disease_Ontology DOID:0060895 DOID:0060895 Parkinson's disease 4 Disease_Ontology DOID:0060896 DOID:0060896 Parkinson's disease 23 Disease_Ontology DOID:0060897 DOID:0060897 Parkinson's disease 17 Disease_Ontology DOID:0060898 DOID:0060898 Parkinson's disease 20 Disease_Ontology DOID:0060900 DOID:0060900 Parkinson's disease 14 Disease_Ontology DOID:0060901 DOID:0060901 lymphoplasmacytic lymphoma Disease_Ontology DOID:0060902 DOID:0060902 Norman-Roberts syndrome Disease_Ontology DOID:0060903 DOID:0060903 thrombosis Disease_Ontology DOID:0060904 DOID:0060904 legume allergy Disease_Ontology DOID:0060911 DOID:0060911 karyomegalic interstitial nephritis Disease_Ontology DOID:0060912 DOID:0060912 craniosynostosis 7 Disease_Ontology DOID:0060913 DOID:0060913 proteosome-associated autoinflammatory syndrome Disease_Ontology DOID:0060914 DOID:0060914 proteosome-associated autoinflammatory syndrome 2 Disease_Ontology DOID:0060915 DOID:0060915 proteosome-associated autoinflammatory syndrome 4 Disease_Ontology DOID:0060916 DOID:0060916 proteasome-associated autoinflammatory syndrome 3 Disease_Ontology DOID:0060917 DOID:0060917 facioscapulohumeral muscular dystrophy 3 Disease_Ontology DOID:0060918 DOID:0060918 facioscapulohumeral muscular dystrophy 4 Disease_Ontology DOID:0060919 DOID:0060919 proteosome-associated autoinflammatory syndrome 5 Disease_Ontology DOID:0060920 DOID:0060920 otosclerosis 1 Disease_Ontology DOID:0060921 DOID:0060921 otosclerosis 2 Disease_Ontology DOID:0060922 DOID:0060922 otosclerosis 3 Disease_Ontology DOID:0060923 DOID:0060923 otosclerosis 4 Disease_Ontology DOID:0060924 DOID:0060924 otosclerosis 5 Disease_Ontology DOID:0060925 DOID:0060925 otosclerosis 7 Disease_Ontology DOID:0060926 DOID:0060926 otosclerosis 8 Disease_Ontology DOID:0060927 DOID:0060927 otosclerosis 10 Disease_Ontology DOID:0060928 DOID:0060928 otosclerosis 11 Disease_Ontology DOID:0060929 DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 Disease_Ontology DOID:0060930 DOID:0060930 developmental dysplasia of the hip Disease_Ontology DOID:0060931 DOID:0060931 developmental dysplasia of the hip 1 Disease_Ontology DOID:0060932 DOID:0060932 developmental dysplasia of the hip 2 Disease_Ontology DOID:0060933 DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies Disease_Ontology DOID:0060934 DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Disease_Ontology DOID:0060935 DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 Disease_Ontology DOID:0060936 DOID:0060936 dystonia 28, childhood-onset Disease_Ontology DOID:0060937 DOID:0060937 dystonia 30 Disease_Ontology DOID:0060938 DOID:0060938 dystonia 31 Disease_Ontology DOID:0060939 DOID:0060939 dystonia 32 Disease_Ontology DOID:0060940 DOID:0060940 dystonia 33 Disease_Ontology DOID:0060941 DOID:0060941 interstitial lung disease 1 Disease_Ontology DOID:0060942 DOID:0060942 Ullrich congenital muscular dystrophy 1B Disease_Ontology DOID:0060943 DOID:0060943 Ullrich congenital muscular dystrophy 1C Disease_Ontology DOID:0060944 DOID:0060944 episodic kinesigenic dyskinesia 3 Disease_Ontology DOID:0060945 DOID:0060945 amelogenesis imperfecta type 1K Disease_Ontology DOID:0060946 DOID:0060946 Ullrich congenital muscular dystrophy 1A Disease_Ontology DOID:0060947 DOID:0060947 autosomal recessive intellectual developmental disorder 82 Disease_Ontology DOID:0060948 DOID:0060948 Ullrich congenital muscular dystrophy 2 Disease_Ontology DOID:0060949 DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency Disease_Ontology DOID:0060950 DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia Disease_Ontology DOID:0060951 DOID:0060951 polycystic kidney disease 6 Disease_Ontology DOID:0060952 DOID:0060952 polycystic kidney disease 7 Disease_Ontology DOID:0060953 DOID:0060953 ZTTK syndrome Disease_Ontology DOID:0060954 DOID:0060954 Holoprosencephaly 13, X-linked Disease_Ontology DOID:0060955 DOID:0060955 dystonia 35, childhood-onset Disease_Ontology DOID:0060956 DOID:0060956 dystonia 37, early-onset with striatal lesions Disease_Ontology DOID:0060957 DOID:0060957 myoclonic dystonia 34 Disease_Ontology DOID:0060958 DOID:0060958 orofaciodigital syndrome XIV Disease_Ontology DOID:0060959 DOID:0060959 orofaciodigital syndrome II Disease_Ontology DOID:0060960 DOID:0060960 orofaciodigital syndrome XIX Disease_Ontology DOID:0060961 DOID:0060961 orofaciodigital syndrome XVIII Disease_Ontology DOID:0060962 DOID:0060962 orofaciodigital syndrome XX Disease_Ontology DOID:0060964 DOID:0060964 Loeys-Dietz syndrome 6 Disease_Ontology DOID:0060965 DOID:0060965 episodic ataxia type 9 Disease_Ontology DOID:0060966 DOID:0060966 dystonia 22, juvenile-onset Disease_Ontology DOID:0060967 DOID:0060967 dystonia 22, adult-onset Disease_Ontology DOID:0060968 DOID:0060968 hypotrichosis 15 Disease_Ontology DOID:0060969 DOID:0060969 galactosemia 4 Disease_Ontology DOID:0060970 DOID:0060970 Cornelia de Lange syndrome 6 Disease_Ontology DOID:0060971 DOID:0060971 interstitial lung disease 2 Disease_Ontology DOID:0060972 DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy Disease_Ontology DOID:0060973 DOID:0060973 WHIM syndrome 2 Disease_Ontology DOID:0060974 DOID:0060974 autosomal recessive Robinow syndrome 2 Disease_Ontology DOID:0060975 DOID:0060975 polycystic liver disease 2 Disease_Ontology DOID:0060976 DOID:0060976 polycystic liver disease 3 Disease_Ontology DOID:0060977 DOID:0060977 polycystic liver disease 4 Disease_Ontology DOID:0060978 DOID:0060978 Fanconi anemia complementation group W Disease_Ontology DOID:0060979 DOID:0060979 Fanconi anemia complementation group S Disease_Ontology DOID:0060980 DOID:0060980 polycystic liver disease 1 Disease_Ontology DOID:0060981 DOID:0060981 mosaic variegated aneuploidy syndrome 4 Disease_Ontology DOID:0060982 DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition Disease_Ontology DOID:0060983 DOID:0060983 sitosterolemia 2 Disease_Ontology DOID:0060984 DOID:0060984 digenic dyskeratosis congenita Disease_Ontology DOID:0060985 DOID:0060985 preaxial polydactyly type IV Disease_Ontology DOID:0060986 DOID:0060986 preaxial polydactyly II Disease_Ontology DOID:0060987 DOID:0060987 preaxial polydactyly I Disease_Ontology DOID:0060988 DOID:0060988 pancreatic agenesis 2 Disease_Ontology DOID:0060989 DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 Disease_Ontology DOID:0060990 DOID:0060990 congenital disorder of deglycosylation 2 Disease_Ontology DOID:0060991 DOID:0060991 congenital disorder of deglycosylation Disease_Ontology DOID:0060992 DOID:0060992 bent bone dysplasia syndrome 1 Disease_Ontology DOID:0060993 DOID:0060993 bent bone dysplasia syndrome 2 Disease_Ontology DOID:0060994 DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 Disease_Ontology DOID:0060995 DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 Disease_Ontology DOID:0060996 DOID:0060996 poor metabolism of thiopurines 2 Disease_Ontology DOID:0060997 DOID:0060997 rhabdoid tumor predisposition syndrome 2 Disease_Ontology DOID:0060998 DOID:0060998 striatal degeneration 2 Disease_Ontology DOID:0060999 DOID:0060999 mitochondrial trifunctional protein deficiency 2 Disease_Ontology DOID:0061001 DOID:0061001 glycine encephalopathy 2 Disease_Ontology DOID:0061002 DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 Disease_Ontology DOID:0061003 DOID:0061003 pancreatic agenesis 1 Disease_Ontology DOID:0061004 DOID:0061004 poor metabolism of thiopurines 1 Disease_Ontology DOID:0061005 DOID:0061005 congenital amegakaryocytic thrombocytopenia 1 Disease_Ontology DOID:0061006 DOID:0061006 advanced sleep phase syndrome 4 Disease_Ontology DOID:0061007 DOID:0061007 sideroblastic anemia 5 Disease_Ontology DOID:0061008 DOID:0061008 craniosynostosis 6 Disease_Ontology DOID:0061009 DOID:0061009 craniosynostosis 2 Disease_Ontology DOID:0061010 DOID:0061010 craniosynostosis 1 Disease_Ontology DOID:0061011 DOID:0061011 craniosynostosis 3 Disease_Ontology DOID:0061012 DOID:0061012 craniosynostosis 4 Disease_Ontology DOID:0061013 DOID:0061013 ovarian dysgenesis 9 Disease_Ontology DOID:0061014 DOID:0061014 ovarian dysgenesis 10 Disease_Ontology DOID:0061015 DOID:0061015 female-restricted Wieacker-Wolff syndrome Disease_Ontology DOID:0061016 DOID:0061016 combined or isolated pituitary growth hormone deficiency 7 Disease_Ontology DOID:0061017 DOID:0061017 combined pituitary hormone deficiency 4 Disease_Ontology DOID:0061018 DOID:0061018 combined or isolated pituitary hormone deficiency 8 Disease_Ontology DOID:0061019 DOID:0061019 combined or isolated pituitary hormone deficiency 1 Disease_Ontology DOID:0061020 DOID:0061020 combined pituitary hormone deficiency 2 Disease_Ontology DOID:0061021 DOID:0061021 combined pituitary hormone deficiency 3 Disease_Ontology DOID:0061022 DOID:0061022 combined pituitary hormone deficiency 6 Disease_Ontology DOID:0061023 DOID:0061023 nonphotosensitive trichothiodystrophy 8 Disease_Ontology DOID:0061024 DOID:0061024 nonphotosensitive trichothiodystrophy 9 Disease_Ontology DOID:0061025 DOID:0061025 familial restrictive cardiomyopathy 6 Disease_Ontology DOID:0061026 DOID:0061026 hereditary pyropoikilocytosis Disease_Ontology DOID:0061027 DOID:0061027 Duane retraction syndrome 1 Disease_Ontology DOID:0061028 DOID:0061028 Duane retraction syndrome 2 Disease_Ontology DOID:0061029 DOID:0061029 Duane retraction syndrome 3 Disease_Ontology DOID:0061030 DOID:0061030 hemophilia Disease_Ontology DOID:0061031 DOID:0061031 autosomal dominant intellectual developmental disorder 57 Disease_Ontology DOID:0061032 DOID:0061032 autosomal dominant intellectual developmental disorder 58 Disease_Ontology DOID:0061033 DOID:0061033 autosomal dominant intellectual developmental disorder 59 Disease_Ontology DOID:0061034 DOID:0061034 autosomal dominant intellectual developmental disorder 61 Disease_Ontology DOID:0061035 DOID:0061035 autosomal dominant intellectual developmental disorder 62 Disease_Ontology DOID:0061036 DOID:0061036 autosomal dominant intellectual developmental disorder 63 with macrocephaly Disease_Ontology DOID:0061037 DOID:0061037 autosomal dominant intellectual developmental disorder 64 Disease_Ontology DOID:0061038 DOID:0061038 autosomal dominant intellectual developmental disorder 65 Disease_Ontology DOID:0061039 DOID:0061039 autosomal dominant intellectual developmental disorder 66 Disease_Ontology DOID:0061040 DOID:0061040 autosomal dominant intellectual developmental disorder 67 Disease_Ontology DOID:0061041 DOID:0061041 autosomal dominant intellectual developmental disorder 68 Disease_Ontology DOID:0061042 DOID:0061042 autosomal dominant intellectual developmental disorder 69 Disease_Ontology DOID:0061043 DOID:0061043 autosomal dominant intellectual developmental disorder 70 Disease_Ontology DOID:0061044 DOID:0061044 autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities Disease_Ontology DOID:0061045 DOID:0061045 autosomal dominant intellectual developmental disorder 72 Disease_Ontology DOID:0061046 DOID:0061046 autosomal dominant intellectual developmental disorder 73 Disease_Ontology DOID:0061047 DOID:0061047 autosomal dominant intellectual developmental disorder 74 Disease_Ontology DOID:0061048 DOID:0061048 autosomal dominant intellectual developmental disorder 75 Disease_Ontology DOID:0061049 DOID:0061049 autosomal dominant intellectual developmental disorder type FRA12A Disease_Ontology DOID:0061050 DOID:0061050 autosomal dominant intellectual developmental disorder 60 with seizures Disease_Ontology DOID:0061051 DOID:0061051 immunodeficiency 80 Disease_Ontology DOID:0061052 DOID:0061052 immunodeficiency 81 Disease_Ontology DOID:0061053 DOID:0061053 immunodeficiency 82 Disease_Ontology DOID:0061054 DOID:0061054 immunodeficiency 84 Disease_Ontology DOID:0061055 DOID:0061055 immunodeficiency 85 Disease_Ontology DOID:0061056 DOID:0061056 immunodeficiency 86 Disease_Ontology DOID:0061057 DOID:0061057 immunodeficiency 87 Disease_Ontology DOID:0061058 DOID:0061058 immunodeficiency 88 Disease_Ontology DOID:0061059 DOID:0061059 immunodeficiency 89 Disease_Ontology DOID:0061060 DOID:0061060 immunodeficiency 90 Disease_Ontology DOID:0061061 DOID:0061061 immunodeficiency 91 Disease_Ontology DOID:0061062 DOID:0061062 immunodeficiency 92 Disease_Ontology DOID:0061063 DOID:0061063 immunodeficiency 93 Disease_Ontology DOID:0061064 DOID:0061064 immunodeficiency 94 Disease_Ontology DOID:0061065 DOID:0061065 immunodeficiency 95 Disease_Ontology DOID:0061066 DOID:0061066 immunodeficiency 96 Disease_Ontology DOID:0061067 DOID:0061067 immunodeficiency 97 Disease_Ontology DOID:0061068 DOID:0061068 immunodeficiency 98 Disease_Ontology DOID:0061069 DOID:0061069 immunodeficiency 99 Disease_Ontology DOID:0061070 DOID:0061070 immunodeficiency 100 Disease_Ontology DOID:0061071 DOID:0061071 immunodeficiency 101 Disease_Ontology DOID:0061072 DOID:0061072 immunodeficiency 102 Disease_Ontology DOID:0061073 DOID:0061073 Perrault syndrome 7 Disease_Ontology DOID:0061074 DOID:0061074 severe combined immunodeficiency 105 Disease_Ontology DOID:0061075 DOID:0061075 immunodeficiency 106 Disease_Ontology DOID:0061076 DOID:0061076 immunodeficiency 107 Disease_Ontology DOID:0061077 DOID:0061077 immunodeficiency 108 Disease_Ontology DOID:0061078 DOID:0061078 immunodeficiency 109 Disease_Ontology DOID:0061079 DOID:0061079 immunodeficiency 112 Disease_Ontology DOID:0061080 DOID:0061080 immunodeficiency 114 Disease_Ontology DOID:0061081 DOID:0061081 immunodeficiency 115 Disease_Ontology DOID:0061082 DOID:0061082 immunodeficiency 116 Disease_Ontology DOID:0061083 DOID:0061083 immunodeficiency 117 Disease_Ontology DOID:0061084 DOID:0061084 immunodeficiency 118 Disease_Ontology DOID:0061085 DOID:0061085 immunodeficiency 119 Disease_Ontology DOID:0061086 DOID:0061086 immunodeficiency 120 Disease_Ontology DOID:0061087 DOID:0061087 immunodeficiency 121 Disease_Ontology DOID:0061088 DOID:0061088 immunodeficiency 122 Disease_Ontology DOID:0061089 DOID:0061089 immunodeficiency 123 Disease_Ontology DOID:0061090 DOID:0061090 severe combined immunodeficiency 124 Disease_Ontology DOID:0061091 DOID:0061091 immunodeficiency 125 Disease_Ontology DOID:0061092 DOID:0061092 immunodeficiency 127 Disease_Ontology DOID:0061093 DOID:0061093 immunodeficiency 128 Disease_Ontology DOID:0061094 DOID:0061094 immunodeficiency 129 Disease_Ontology DOID:0061096 DOID:0061096 immunodeficiency 133 Disease_Ontology DOID:0061097 DOID:0061097 immunodeficiency 132B Disease_Ontology DOID:0061098 DOID:0061098 Carpenter syndrome 1 Disease_Ontology DOID:0061099 DOID:0061099 Carpenter syndrome 2 Disease_Ontology DOID:0061100 DOID:0061100 autosomal dominant primary microcephaly Disease_Ontology DOID:0061101 DOID:0061101 immunodeficiency 132A Disease_Ontology DOID:0061102 DOID:0061102 hypertrophic cardiomyopathy 27 Disease_Ontology DOID:0061103 DOID:0061103 retinitis pigmentosa 76 Disease_Ontology DOID:0061104 DOID:0061104 retinitis pigmentosa 96 Disease_Ontology DOID:0061105 DOID:0061105 retinitis pigmentosa 93 Disease_Ontology DOID:0061106 DOID:0061106 retinitis pigmentosa 91 Disease_Ontology DOID:0061107 DOID:0061107 retinitis pigmentosa 92 Disease_Ontology DOID:0061108 DOID:0061108 retinitis pigmentosa 79 Disease_Ontology DOID:0061109 DOID:0061109 retinitis pigmentosa 98 Disease_Ontology DOID:0061110 DOID:0061110 retinitis pigmentosa 97 Disease_Ontology DOID:0061111 DOID:0061111 retinitis pigmentosa 80 Disease_Ontology DOID:0061112 DOID:0061112 retinitis pigmentosa 95 Disease_Ontology DOID:0061113 DOID:0061113 retinitis pigmentosa 78 Disease_Ontology DOID:0061114 DOID:0061114 autosomal recessive intellectual developmental disorder 83 Disease_Ontology DOID:0061115 DOID:0061115 Carey-Fineman-Ziter syndrome 1 Disease_Ontology DOID:0061116 DOID:0061116 Carey-Fineman-Ziter syndrome 2 Disease_Ontology DOID:0061117 DOID:0061117 Perrault syndrome 2 Disease_Ontology DOID:0061118 DOID:0061118 autosomal dominant tubulointerstitial kidney disease 2 Disease_Ontology DOID:0061119 DOID:0061119 autosomal dominant tubulointerstitial kidney disease 4 Disease_Ontology DOID:0061120 DOID:0061120 autosomal dominant tubulointerstitial kidney disease 5 Disease_Ontology DOID:0061121 DOID:0061121 autosomal dominant tubulointerstitial kidney disease 6 Disease_Ontology DOID:0061122 DOID:0061122 autosomal dominant tubulointerstitial kidney disease 1 Disease_Ontology DOID:0061123 DOID:0061123 visceral heterotaxy 14 Disease_Ontology DOID:0061124 DOID:0061124 autosomal recessive nonsyndromic deafness 125 Disease_Ontology DOID:0061125 DOID:0061125 immunodeficiency 131 Disease_Ontology DOID:0061126 DOID:0061126 Brunet-Wagner neurodevelopmental syndrome Disease_Ontology DOID:0061127 DOID:0061127 retinitis pigmentosa 99 Disease_Ontology DOID:0061128 DOID:0061128 mucopolysaccharidosis X Disease_Ontology DOID:0061129 DOID:0061129 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities Disease_Ontology DOID:0061130 DOID:0061130 autosomal recessive limb-girdle muscular dystrophy type 28 Disease_Ontology DOID:0061131 DOID:0061131 autosomal recessive limb-girdle muscular dystrophy type 26 Disease_Ontology DOID:0061132 DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 Disease_Ontology DOID:0061133 DOID:0061133 autosomal recessive limb-girdle muscular dystrophy type 27 Disease_Ontology DOID:0061134 DOID:0061134 autosomal recessive limb-girdle muscular dystrophy type 29 Disease_Ontology DOID:0061135 DOID:0061135 infantile hypercalcemia 2 Disease_Ontology DOID:0061136 DOID:0061136 infantile hypercalcemia 1 Disease_Ontology DOID:0061137 DOID:0061137 spinocerebellar ataxia 27B Disease_Ontology DOID:0061138 DOID:0061138 complex cortical dysplasia with other brain malformations 9 Disease_Ontology DOID:0061139 DOID:0061139 coronary atherosclerosis Disease_Ontology DOID:0061140 DOID:0061140 ragopathy Disease_Ontology DOID:0061141 DOID:0061141 complex cortical dysplasia with other brain malformations 12 Disease_Ontology DOID:0061142 DOID:0061142 complex cortical dysplasia with other brain malformations 11 Disease_Ontology DOID:0061143 DOID:0061143 complex cortical dysplasia with other brain malformations 10 Disease_Ontology DOID:0061144 DOID:0061144 complex cortical dysplasia with other brain malformations 13 Disease_Ontology DOID:0061145 DOID:0061145 monilethrix 1 Disease_Ontology DOID:0061146 DOID:0061146 Pan-Chung-Bellen syndrome Disease_Ontology DOID:0061147 DOID:0061147 neurodevelopmental disorder with or without autism or seizures Disease_Ontology DOID:0061148 DOID:0061148 hereditary congenital ptosis 2 Disease_Ontology DOID:0061149 DOID:0061149 hereditary congenital ptosis 1 Disease_Ontology DOID:0061150 DOID:0061150 familial isolated hypoparathyroidism 1 Disease_Ontology DOID:0061151 DOID:0061151 familial isolated hypoparathyroidism 2 Disease_Ontology DOID:0061152 DOID:0061152 monilethrix 2 Disease_Ontology DOID:0061153 DOID:0061153 monilethrix 3 Disease_Ontology DOID:0061154 DOID:0061154 Mulvihill-Smith syndrome Disease_Ontology DOID:0061155 DOID:0061155 kyphomelic dysplasia Disease_Ontology DOID:0061156 DOID:0061156 CASGID syndrome Disease_Ontology DOID:0061157 DOID:0061157 retinopathy sensory neuropathy syndrome Disease_Ontology DOID:0061158 DOID:0061158 Kariminejad neurodevelopmental syndrome Disease_Ontology DOID:0061159 DOID:0061159 infantile onset multisystem autoimmune disease Disease_Ontology DOID:0061160 DOID:0061160 infantile onset multisystem autoimmune disease 1 Disease_Ontology DOID:0061161 DOID:0061161 infantile onset multisystem autoimmune disease 2 Disease_Ontology DOID:0061162 DOID:0061162 infantile onset multisystem autoimmune disease 3 Disease_Ontology DOID:0061163 DOID:0061163 infantile onset multisystem autoimmune disease 4 Disease_Ontology DOID:0061164 DOID:0061164 infantile onset multisystem autoimmune disease 5 Disease_Ontology DOID:0061165 DOID:0061165 proximal renal tubular acidosis Disease_Ontology DOID:0061166 DOID:0061166 autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss Disease_Ontology DOID:0061167 DOID:0061167 autosomal recessive proximal renal tubular acidosis Disease_Ontology DOID:0061168 DOID:0061168 mitochondrial axonal Charcot-Marie-Tooth disease Disease_Ontology DOID:0061169 DOID:0061169 autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome Disease_Ontology DOID:0061170 DOID:0061170 autoinflammation, panniculitis, and dermatosis syndrome Disease_Ontology DOID:0061171 DOID:0061171 immunodeficiency 130 with HPV-related verrucosis Disease_Ontology DOID:0061172 DOID:0061172 transient neonatal diabetes mellitus 3 Disease_Ontology DOID:0061173 DOID:0061173 transient neonatal diabetes mellitus 1 Disease_Ontology DOID:0061174 DOID:0061174 transient neonatal diabetes mellitus 2 Disease_Ontology DOID:0061175 DOID:0061175 Gollop-Wolfgang complex Disease_Ontology DOID:0061176 DOID:0061176 developmental and epileptic encephalopathy 118 Disease_Ontology DOID:0061177 DOID:0061177 X-linked spermatogenic failure 9 Disease_Ontology DOID:0061178 DOID:0061178 autosomal recessive congenital nystagmus 8 Disease_Ontology DOID:0061179 DOID:0061179 Adams-Oliver syndrome 3 Disease_Ontology DOID:0061180 DOID:0061180 familial hypercholanemia 3 Disease_Ontology DOID:0061181 DOID:0061181 familial hypercholanemia 1 Disease_Ontology DOID:0061182 DOID:0061182 familial hypercholanemia 2 Disease_Ontology DOID:0061183 DOID:0061183 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 Disease_Ontology DOID:0061184 DOID:0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 Disease_Ontology DOID:0061185 DOID:0061185 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia Disease_Ontology DOID:0061186 DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Disease_Ontology DOID:0061187 DOID:0061187 multiple familial trichoepithelioma 1 Disease_Ontology DOID:0061188 DOID:0061188 autosomal recessive sensory neuropathy with spastic paraplegia Disease_Ontology DOID:0061189 DOID:0061189 neuronal ceroid lipofuscinosis 15 Disease_Ontology DOID:0061190 DOID:0061190 ReNU syndrome Disease_Ontology DOID:0061191 DOID:0061191 neonatal nephrocutaneous inflammatory syndrome Disease_Ontology DOID:0061192 DOID:0061192 neonatal inflammatory skin and bowel disease 1 Disease_Ontology DOID:0061193 DOID:0061193 nephrotic syndrome type 26 Disease_Ontology DOID:0061194 DOID:0061194 nephrotic syndrome type 24 Disease_Ontology DOID:0061195 DOID:0061195 proximal renal tubular acidosis-ocular anomaly syndrome Disease_Ontology DOID:0061196 DOID:0061196 Mietens syndrome Disease_Ontology DOID:0061197 DOID:0061197 BCARD syndrome Disease_Ontology DOID:0061198 DOID:0061198 Bethlem myopathy 1A Disease_Ontology DOID:0061199 DOID:0061199 Bethlem myopathy 1B Disease_Ontology DOID:0061200 DOID:0061200 Bethlem myopathy 1C Disease_Ontology DOID:0061201 DOID:0061201 Bethlem myopathy 2 Disease_Ontology DOID:0061202 DOID:0061202 congenital muscular dystrophy with rapid progression Disease_Ontology DOID:0061203 DOID:0061203 maple syrup urine disease type IA Disease_Ontology DOID:0061204 DOID:0061204 dihydrolipoamide dehydrogenase deficiency Disease_Ontology DOID:0061205 DOID:0061205 mild variant of maple syrup urine disease Disease_Ontology DOID:0061206 DOID:0061206 maple syrup urine disease type IB Disease_Ontology DOID:0061207 DOID:0061207 maple syrup urine disease type II Disease_Ontology DOID:0061208 DOID:0061208 epidermolytic hyperkeratosis 2B Disease_Ontology DOID:0061209 DOID:0061209 branchiootic syndrome 1 Disease_Ontology DOID:0061210 DOID:0061210 branchiootic syndrome 3 Disease_Ontology DOID:0061211 DOID:0061211 Lafora disease 2 Disease_Ontology DOID:0061212 DOID:0061212 hypocholesteremia Disease_Ontology DOID:0061213 DOID:0061213 telomere biology disorder Disease_Ontology DOID:0061214 DOID:0061214 biliary obstruction Disease_Ontology DOID:0061215 DOID:0061215 hepatic fibrosis Disease_Ontology DOID:0061216 DOID:0061216 pheochromocytoma/paraganglioma syndrome 1 Disease_Ontology DOID:0061217 DOID:0061217 pheochromocytoma/paraganglioma syndrome 2 Disease_Ontology DOID:0061218 DOID:0061218 pheochromocytoma/paraganglioma syndrome 3 Disease_Ontology DOID:0061219 DOID:0061219 pheochromocytoma/paraganglioma syndrome 4 Disease_Ontology DOID:0061220 DOID:0061220 pheochromocytoma/paraganglioma syndrome 5 Disease_Ontology DOID:0061221 DOID:0061221 pheochromocytoma/paraganglioma syndrome 6 Disease_Ontology DOID:0061222 DOID:0061222 pheochromocytoma/paraganglioma syndrome 7 Disease_Ontology DOID:0061223 DOID:0061223 epidermolytic hyperkeratosis 2A Disease_Ontology DOID:0061224 DOID:0061224 Majeed syndrome Disease_Ontology DOID:0061225 DOID:0061225 interleukin-1 receptor antagonist deficiency Disease_Ontology DOID:0061226 DOID:0061226 primary ciliary dyskinesia 55 Disease_Ontology DOID:0061227 DOID:0061227 autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 Disease_Ontology DOID:0061228 DOID:0061228 autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 Disease_Ontology DOID:0061229 DOID:0061229 Camurati-Engelmann disease 1 Disease_Ontology DOID:0061230 DOID:0061230 Camurati-Engelmann disease 2 Disease_Ontology DOID:0061231 DOID:0061231 enhanced S-cone syndrome 1 Disease_Ontology DOID:0061232 DOID:0061232 enhanced S-cone syndrome 2 Disease_Ontology DOID:0061233 DOID:0061233 autosomal recessive brain small vessel disease 2B Disease_Ontology DOID:0061234 DOID:0061234 brain small vessel disease 4 Disease_Ontology DOID:0061235 DOID:0061235 brain small vessel disease 5 with osteoporosis Disease_Ontology DOID:0061236 DOID:0061236 brain small vessel disease 6 with leukoencephalopathy Disease_Ontology DOID:0061237 DOID:0061237 aggressive periodontitis 1 Disease_Ontology DOID:0061238 DOID:0061238 Stargardt disease 3 Disease_Ontology DOID:0061239 DOID:0061239 Stargardt disease 4 Disease_Ontology DOID:0061240 DOID:0061240 Stargardt disease 5 Disease_Ontology DOID:0061241 DOID:0061241 Stargardt disease 1 Disease_Ontology DOID:0061242 DOID:0061242 glucocorticoid deficiency 2 Disease_Ontology DOID:0061243 DOID:0061243 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency Disease_Ontology DOID:0061244 DOID:0061244 glucocorticoid deficiency 5 Disease_Ontology DOID:0061245 DOID:0061245 periventricular nodular heterotopia 8 Disease_Ontology DOID:0061246 DOID:0061246 periventricular nodular heterotopia 9 Disease_Ontology DOID:0061247 DOID:0061247 familial hyperaldosteronism Disease_Ontology DOID:0061248 DOID:0061248 familial hyperaldosteronism III Disease_Ontology DOID:0061249 DOID:0061249 familial hyperaldosteronism II Disease_Ontology DOID:0061250 DOID:0061250 familial hyperaldosteronism IV Disease_Ontology DOID:0061251 DOID:0061251 Charcot-Marie-Tooth disease type 2KK Disease_Ontology DOID:0061252 DOID:0061252 neurodevelopmental disorder with hypotonia, epilepsy, and absent speech Disease_Ontology DOID:0061253 DOID:0061253 neurodevelopmental disorder with speech delay, movement abnormalities, and seizures Disease_Ontology DOID:0061254 DOID:0061254 intellectual developmental disorder with seizures and dysmorphic facies Disease_Ontology DOID:0061255 DOID:0061255 spondylocostal dysostosis 7 Disease_Ontology DOID:0061256 DOID:0061256 congenital myopathy 25 Disease_Ontology DOID:0061257 DOID:0061257 congenital myopathy 26 Disease_Ontology DOID:0061258 DOID:0061258 congenital myopathy 27 Disease_Ontology DOID:0061259 DOID:0061259 congenital myopathy 28 Disease_Ontology DOID:0061260 DOID:0061260 congenital myopathy 29 Disease_Ontology DOID:0061261 DOID:0061261 lethal congenital contracture syndrome 5 Disease_Ontology DOID:0061262 DOID:0061262 lethal congenital contracture syndrome 6 Disease_Ontology DOID:0061263 DOID:0061263 lethal congenital contracture syndrome 7 Disease_Ontology DOID:0061264 DOID:0061264 lethal congenital contracture syndrome 8 Disease_Ontology DOID:0061265 DOID:0061265 lethal congenital contracture syndrome 9 Disease_Ontology DOID:0061266 DOID:0061266 lethal congenital contracture syndrome 10 Disease_Ontology DOID:0061267 DOID:0061267 lethal congenital contracture syndrome 11 Disease_Ontology DOID:0061268 DOID:0061268 lethal congenital contracture syndrome 12 Disease_Ontology DOID:0061269 DOID:0061269 periventricular nodular heterotopia 6 Disease_Ontology DOID:0061270 DOID:0061270 periventricular nodular heterotopia 7 Disease_Ontology DOID:0061271 DOID:0061271 liver glycogen storage disease Disease_Ontology DOID:0061272 DOID:0061272 muscle glycogen storage disease Disease_Ontology DOID:0061273 DOID:0061273 Weill-Marchesani syndrome 1 Disease_Ontology DOID:0061274 DOID:0061274 Weill-Marchesani syndrome 2 Disease_Ontology DOID:0061275 DOID:0061275 Weill-Marchesani syndrome 3 Disease_Ontology DOID:0061276 DOID:0061276 Weill-Marchesani syndrome 4 Disease_Ontology DOID:0061277 DOID:0061277 Senior-Loken syndrome 1 Disease_Ontology DOID:0061278 DOID:0061278 Senior-Loken syndrome 4 Disease_Ontology DOID:0061279 DOID:0061279 Senior-Loken syndrome 5 Disease_Ontology DOID:0061280 DOID:0061280 Senior-Loken syndrome 6 Disease_Ontology DOID:0061281 DOID:0061281 Senior-Loken syndrome 7 Disease_Ontology DOID:0061282 DOID:0061282 Senior-Loken syndrome 8 Disease_Ontology DOID:0061283 DOID:0061283 Senior-Loken syndrome 9 Disease_Ontology DOID:0061285 DOID:0061285 glycogen storage disease X Disease_Ontology DOID:0061286 DOID:0061286 glycogen storage disease XI Disease_Ontology DOID:0061287 DOID:0061287 glycogen storage disease XII Disease_Ontology DOID:0061288 DOID:0061288 glycogen storage disease XIII Disease_Ontology DOID:0061289 DOID:0061289 Galloway-Mowat syndrome 6 Disease_Ontology DOID:0061290 DOID:0061290 Galloway-Mowat syndrome 7 Disease_Ontology DOID:0061291 DOID:0061291 Galloway-Mowat syndrome 8 Disease_Ontology DOID:0061292 DOID:0061292 Galloway-Mowat syndrome 9 Disease_Ontology DOID:0061293 DOID:0061293 Galloway-Mowat syndrome 10 Disease_Ontology DOID:0061294 DOID:0061294 Meckel syndrome 9 Disease_Ontology DOID:0061295 DOID:0061295 Meckel syndrome 10 Disease_Ontology DOID:0061296 DOID:0061296 Meckel syndrome 11 Disease_Ontology DOID:0061297 DOID:0061297 Meckel syndrome 12 Disease_Ontology DOID:0061298 DOID:0061298 retinitis pigmentosa 100 Disease_Ontology DOID:0061299 DOID:0061299 retinitis pigmentosa 101 Disease_Ontology DOID:0061300 DOID:0061300 Hermansky-Pudlak syndrome 10 Disease_Ontology DOID:0061301 DOID:0061301 Hermansky-Pudlak syndrome 11 Disease_Ontology DOID:0070000 DOID:0070000 3-methylglutaconic aciduria type 8 Disease_Ontology DOID:0070002 DOID:0070002 3-methylglutaconic aciduria type 9 Disease_Ontology DOID:0070003 DOID:0070003 blastoma Disease_Ontology DOID:0070004 DOID:0070004 myeloid neoplasm Disease_Ontology DOID:0070005 DOID:0070005 Seckel syndrome 9 Disease_Ontology DOID:0070006 DOID:0070006 Seckel syndrome 6 Disease_Ontology DOID:0070007 DOID:0070007 Seckel syndrome 1 Disease_Ontology DOID:0070008 DOID:0070008 Seckel syndrome 10 Disease_Ontology DOID:0070009 DOID:0070009 Seckel syndrome 8 Disease_Ontology DOID:0070010 DOID:0070010 Seckel syndrome 4 Disease_Ontology DOID:0070011 DOID:0070011 Seckel syndrome 7 Disease_Ontology DOID:0070012 DOID:0070012 Seckel syndrome 5 Disease_Ontology DOID:0070013 DOID:0070013 Seckel syndrome 2 Disease_Ontology DOID:0070014 DOID:0070014 autosomal dominant dyskeratosis congenita 1 Disease_Ontology DOID:0070015 DOID:0070015 autosomal recessive dyskeratosis congenita 1 Disease_Ontology DOID:0070016 DOID:0070016 autosomal dominant dyskeratosis congenita 2 Disease_Ontology DOID:0070017 DOID:0070017 autosomal recessive dyskeratosis congenita 2 Disease_Ontology DOID:0070018 DOID:0070018 autosomal dominant dyskeratosis congenita 3 Disease_Ontology DOID:0070019 DOID:0070019 autosomal recessive dyskeratosis congenita 3 Disease_Ontology DOID:0070020 DOID:0070020 autosomal dominant dyskeratosis congenita 4 Disease_Ontology DOID:0070021 DOID:0070021 autosomal recessive dyskeratosis congenita 4 Disease_Ontology DOID:0070022 DOID:0070022 autosomal recessive dyskeratosis congenita 5 Disease_Ontology DOID:0070023 DOID:0070023 autosomal dominant dyskeratosis congenita 6 Disease_Ontology DOID:0070024 DOID:0070024 autosomal recessive dyskeratosis congenita 6 Disease_Ontology DOID:0070025 DOID:0070025 X-linked dyskeratosis congenita Disease_Ontology DOID:0070026 DOID:0070026 Revesz syndrome Disease_Ontology DOID:0070027 DOID:0070027 CST3-related cerebral amyloid angiopathy Disease_Ontology DOID:0070028 DOID:0070028 APP-related cerebral amyloid angiopathy Disease_Ontology DOID:0070029 DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 Disease_Ontology DOID:0070030 DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 Disease_Ontology DOID:0070031 DOID:0070031 autosomal dominant intellectual developmental disorder 1 Disease_Ontology DOID:0070032 DOID:0070032 autosomal dominant intellectual developmental disorder 2 Disease_Ontology DOID:0070033 DOID:0070033 autosomal dominant intellectual developmental disorder 3 Disease_Ontology DOID:0070034 DOID:0070034 autosomal dominant intellectual developmental disorder 4 Disease_Ontology DOID:0070035 DOID:0070035 autosomal dominant intellectual developmental disorder 5 Disease_Ontology DOID:0070036 DOID:0070036 autosomal dominant intellectual developmental disorder 6 Disease_Ontology DOID:0070037 DOID:0070037 autosomal dominant intellectual developmental disorder 7 Disease_Ontology DOID:0070038 DOID:0070038 autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures Disease_Ontology DOID:0070039 DOID:0070039 NESCAV syndrome Disease_Ontology DOID:0070040 DOID:0070040 autosomal dominant intellectual developmental disorder 10 Disease_Ontology DOID:0070041 DOID:0070041 autosomal dominant intellectual developmental disorder 11 Disease_Ontology DOID:0070042 DOID:0070042 Coffin-Siris syndrome 1 Disease_Ontology DOID:0070043 DOID:0070043 autosomal dominant intellectual developmental disorder 13 Disease_Ontology DOID:0070044 DOID:0070044 Coffin-Siris syndrome 2 Disease_Ontology DOID:0070045 DOID:0070045 Coffin-Siris syndrome 3 Disease_Ontology DOID:0070046 DOID:0070046 Coffin-Siris syndrome 4 Disease_Ontology DOID:0070047 DOID:0070047 Schuurs-Hoeijmakers Syndrome Disease_Ontology DOID:0070048 DOID:0070048 GAND syndrome Disease_Ontology DOID:0070049 DOID:0070049 autosomal dominant intellectual developmental disorder 19 Disease_Ontology DOID:0070050 DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Disease_Ontology DOID:0070051 DOID:0070051 autosomal dominant intellectual developmental disorder 21 Disease_Ontology DOID:0070052 DOID:0070052 autosomal dominant intellectual developmental disorder 22 Disease_Ontology DOID:0070053 DOID:0070053 autosomal dominant intellectual developmental disorder 23 Disease_Ontology DOID:0070054 DOID:0070054 Vulto-van Silfout-de Vries syndrome Disease_Ontology DOID:0070055 DOID:0070055 Xia-Gibbs Syndrome Disease_Ontology DOID:0070056 DOID:0070056 autosomal dominant intellectual developmental disorder 26 Disease_Ontology DOID:0070057 DOID:0070057 Coffin-Siris syndrome 9 Disease_Ontology DOID:0070058 DOID:0070058 Helsmoortel-Van Der Aa Syndrome Disease_Ontology DOID:0070059 DOID:0070059 autosomal dominant intellectual developmental disorder 29 Disease_Ontology DOID:0070060 DOID:0070060 autosomal dominant intellectual developmental disorder 30 Disease_Ontology DOID:0070061 DOID:0070061 autosomal dominant intellectual developmental disorder 31 Disease_Ontology DOID:0070062 DOID:0070062 Arboleda-Tham syndrome Disease_Ontology DOID:0070063 DOID:0070063 autosomal dominant intellectual developmental disorder 33 Disease_Ontology DOID:0070064 DOID:0070064 autosomal dominant intellectual developmental disorder 34 Disease_Ontology DOID:0070065 DOID:0070065 autosomal dominant intellectual developmental disorder 35 Disease_Ontology DOID:0070066 DOID:0070066 autosomal dominant intellectual developmental disorder 36 Disease_Ontology DOID:0070067 DOID:0070067 White-Sutton syndrome Disease_Ontology DOID:0070068 DOID:0070068 autosomal dominant intellectual developmental disorder 38 Disease_Ontology DOID:0070069 DOID:0070069 autosomal dominant intellectual developmental disorder 39 Disease_Ontology DOID:0070070 DOID:0070070 autosomal dominant intellectual developmental disorder 40 Disease_Ontology DOID:0070071 DOID:0070071 autosomal dominant intellectual developmental disorder 41 Disease_Ontology DOID:0070072 DOID:0070072 autosomal dominant intellectual developmental disorder 42 Disease_Ontology DOID:0070073 DOID:0070073 autosomal dominant intellectual developmental disorder 43 Disease_Ontology DOID:0070074 DOID:0070074 autosomal dominant intellectual developmental disorder 44 Disease_Ontology DOID:0070077 DOID:0070077 schizophrenia 1 Disease_Ontology DOID:0070078 DOID:0070078 schizophrenia 2 Disease_Ontology DOID:0070079 DOID:0070079 schizophrenia 3 Disease_Ontology DOID:0070080 DOID:0070080 schizophrenia 4 Disease_Ontology DOID:0070081 DOID:0070081 schizophrenia 5 Disease_Ontology DOID:0070082 DOID:0070082 schizophrenia 6 Disease_Ontology DOID:0070083 DOID:0070083 schizophrenia 7 Disease_Ontology DOID:0070084 DOID:0070084 schizophrenia 8 Disease_Ontology DOID:0070085 DOID:0070085 schizophrenia 9 Disease_Ontology DOID:0070086 DOID:0070086 schizophrenia 10 Disease_Ontology DOID:0070087 DOID:0070087 schizophrenia 11 Disease_Ontology DOID:0070088 DOID:0070088 schizophrenia 12 Disease_Ontology DOID:0070089 DOID:0070089 schizophrenia 13 Disease_Ontology DOID:0070090 DOID:0070090 schizophrenia 14 Disease_Ontology DOID:0070091 DOID:0070091 schizophrenia 15 Disease_Ontology DOID:0070092 DOID:0070092 schizophrenia 16 Disease_Ontology DOID:0070093 DOID:0070093 schizophrenia 18 Disease_Ontology DOID:0070094 DOID:0070094 oculocutaneous albinism type IA Disease_Ontology DOID:0070095 DOID:0070095 oculocutaneous albinism type IB Disease_Ontology DOID:0070096 DOID:0070096 oculocutaneous albinism type II Disease_Ontology DOID:0070097 DOID:0070097 oculocutaneous albinism type III Disease_Ontology DOID:0070098 DOID:0070098 oculocutaneous albinism type IV Disease_Ontology DOID:0070099 DOID:0070099 oculocutaneous albinism type V Disease_Ontology DOID:0070100 DOID:0070100 oculocutaneous albinism type VII Disease_Ontology DOID:0070111 DOID:0070111 Niemann-Pick disease type A Disease_Ontology DOID:0070112 DOID:0070112 Niemann-Pick disease type B Disease_Ontology DOID:0070113 DOID:0070113 Niemann-Pick disease type C1 Disease_Ontology DOID:0070114 DOID:0070114 Niemann-Pick disease type C2 Disease_Ontology DOID:0070115 DOID:0070115 Meckel syndrome 1 Disease_Ontology DOID:0070116 DOID:0070116 Meckel syndrome 2 Disease_Ontology DOID:0070117 DOID:0070117 Meckel syndrome 3 Disease_Ontology DOID:0070118 DOID:0070118 Meckel syndrome 4 Disease_Ontology DOID:0070119 DOID:0070119 Meckel syndrome 5 Disease_Ontology DOID:0070120 DOID:0070120 Meckel syndrome 6 Disease_Ontology DOID:0070121 DOID:0070121 Meckel syndrome 7 Disease_Ontology DOID:0070122 DOID:0070122 Meckel syndrome 8 Disease_Ontology DOID:0070123 DOID:0070123 congenital nongoitrous hypothyroidism 4 Disease_Ontology DOID:0070124 DOID:0070124 congenital nongoitrous hypothyroidism 2 Disease_Ontology DOID:0070125 DOID:0070125 congenital nongoitrous hypothyroidism 5 Disease_Ontology DOID:0070126 DOID:0070126 congenital nongoitrous hypothyroidism 1 Disease_Ontology DOID:0070127 DOID:0070127 congenital nongoitrous hypothyroidism 3 Disease_Ontology DOID:0070128 DOID:0070128 congenital nongoitrous hypothyroidism 6 Disease_Ontology DOID:0070129 DOID:0070129 autosomal recessive cutis laxa type IID Disease_Ontology DOID:0070130 DOID:0070130 autosomal dominant cutis laxa 1 Disease_Ontology DOID:0070131 DOID:0070131 autosomal dominant cutis laxa 3 Disease_Ontology DOID:0070132 DOID:0070132 autosomal recessive cutis laxa type IIIA Disease_Ontology DOID:0070133 DOID:0070133 autosomal recessive cutis laxa type IB Disease_Ontology DOID:0070134 DOID:0070134 autosomal recessive cutis laxa type IIA Disease_Ontology DOID:0070135 DOID:0070135 autosomal recessive cutis laxa type IA Disease_Ontology DOID:0070136 DOID:0070136 autosomal dominant cutis laxa 2 Disease_Ontology DOID:0070137 DOID:0070137 autosomal recessive cutis laxa type IIB Disease_Ontology DOID:0070138 DOID:0070138 autosomal recessive cutis laxa type IIIB Disease_Ontology DOID:0070139 DOID:0070139 autosomal recessive cutis laxa type IC Disease_Ontology DOID:0070140 DOID:0070140 autosomal recessive cutis laxa type IIC Disease_Ontology DOID:0070141 DOID:0070141 autosomal recessive cutis laxa type II classic type Disease_Ontology DOID:0070142 DOID:0070142 autosomal dominant cutis laxa Disease_Ontology DOID:0070143 DOID:0070143 autosomal recessive cutis laxa type III Disease_Ontology DOID:0070144 DOID:0070144 autosomal recessive cutis laxa type I Disease_Ontology DOID:0070145 DOID:0070145 hereditary sensory and autonomic neuropathy type 5 Disease_Ontology DOID:0070146 DOID:0070146 congenital insensitivity to pain with anhidrosis Disease_Ontology DOID:0070147 DOID:0070147 hereditary sensory neuropathy type 2C Disease_Ontology DOID:0070148 DOID:0070148 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome Disease_Ontology DOID:0070149 DOID:0070149 hereditary sensory and autonomic neuropathy type 7 Disease_Ontology DOID:0070150 DOID:0070150 hereditary sensory and autonomic neuropathy type 2B Disease_Ontology DOID:0070151 DOID:0070151 hereditary sensory and autonomic neuropathy type 6 Disease_Ontology DOID:0070152 DOID:0070152 hereditary sensory and autonomic neuropathy type 1A Disease_Ontology DOID:0070153 DOID:0070153 hereditary sensory and autonomic neuropathy type 8 Disease_Ontology DOID:0070154 DOID:0070154 hereditary sensory neuropathy type 1F Disease_Ontology DOID:0070155 DOID:0070155 hereditary sensory and autonomic neuropathy type 2A Disease_Ontology DOID:0070156 DOID:0070156 hereditary sensory neuropathy type 1D Disease_Ontology DOID:0070157 DOID:0070157 hereditary sensory and autonomic neuropathy type 1C Disease_Ontology DOID:0070158 DOID:0070158 hereditary sensory neuropathy type 1E Disease_Ontology DOID:0070159 DOID:0070159 X-linked hereditary sensory neuropathy Disease_Ontology DOID:0070160 DOID:0070160 atypical hereditary sensory neuropathy Disease_Ontology DOID:0070161 DOID:0070161 hereditary sensory and autonomic neuropathy type 2 Disease_Ontology DOID:0070162 DOID:0070162 hereditary sensory and autonomic neuropathy type 1 Disease_Ontology DOID:0070163 DOID:0070163 spermatogenic failure 21 Disease_Ontology DOID:0070164 DOID:0070164 spermatogenic failure 2 Disease_Ontology DOID:0070165 DOID:0070165 spermatogenic failure 18 Disease_Ontology DOID:0070166 DOID:0070166 spermatogenic failure 20 Disease_Ontology DOID:0070167 DOID:0070167 spermatogenic failure 6 Disease_Ontology DOID:0070168 DOID:0070168 spermatogenic failure 3 Disease_Ontology DOID:0070169 DOID:0070169 spermatogenic failure 8 Disease_Ontology DOID:0070170 DOID:0070170 spermatogenic failure 19 Disease_Ontology DOID:0070171 DOID:0070171 spermatogenic failure 12 Disease_Ontology DOID:0070172 DOID:0070172 spermatogenic failure 15 Disease_Ontology DOID:0070173 DOID:0070173 spermatogenic failure 7 Disease_Ontology DOID:0070174 DOID:0070174 spermatogenic failure 17 Disease_Ontology DOID:0070176 DOID:0070176 spermatogenic failure 4 Disease_Ontology DOID:0070177 DOID:0070177 spermatogenic failure 22 Disease_Ontology DOID:0070178 DOID:0070178 spermatogenic failure 10 Disease_Ontology DOID:0070179 DOID:0070179 spermatogenic failure 14 Disease_Ontology DOID:0070180 DOID:0070180 spermatogenic failure 11 Disease_Ontology DOID:0070181 DOID:0070181 spermatogenic failure 23 Disease_Ontology DOID:0070182 DOID:0070182 spermatogenic failure 13 Disease_Ontology DOID:0070183 DOID:0070183 spermatogenic failure 5 Disease_Ontology DOID:0070184 DOID:0070184 spermatogenic failure 16 Disease_Ontology DOID:0070185 DOID:0070185 X-linked spermatogenic failure 2 Disease_Ontology DOID:0070186 DOID:0070186 Y-linked spermatogenic failure 1 Disease_Ontology DOID:0070187 DOID:0070187 Y-linked spermatogenic failure 2 Disease_Ontology DOID:0070188 DOID:0070188 spermatogenic failure 1 Disease_Ontology DOID:0070189 DOID:0070189 X-linked spermatogenic failure 1 Disease_Ontology DOID:0070191 DOID:0070191 autosomal recessive chronic granulomatous disease 2 Disease_Ontology DOID:0070192 DOID:0070192 autosomal recessive chronic granulomatous disease 1 Disease_Ontology DOID:0070193 DOID:0070193 autosomal recessive chronic granulomatous disease 4 Disease_Ontology DOID:0070194 DOID:0070194 autosomal recessive chronic granulomatous disease 3 Disease_Ontology DOID:0070195 DOID:0070195 X-linked chronic granulomatous disease Disease_Ontology DOID:0070196 DOID:0070196 infantile-onset distal myopathy Disease_Ontology DOID:0070197 DOID:0070197 distal myopathy 1 Disease_Ontology DOID:0070198 DOID:0070198 Miyoshi muscular dystrophy Disease_Ontology DOID:0070199 DOID:0070199 Miyoshi muscular dystrophy 1 Disease_Ontology DOID:0070200 DOID:0070200 Miyoshi muscular dystrophy 2 Disease_Ontology DOID:0070201 DOID:0070201 Miyoshi muscular dystrophy 3 Disease_Ontology DOID:0070202 DOID:0070202 familial partial lipodystrophy type 2 Disease_Ontology DOID:0070203 DOID:0070203 familial partial lipodystrophy type 5 Disease_Ontology DOID:0070204 DOID:0070204 familial partial lipodystrophy type 3 Disease_Ontology DOID:0070205 DOID:0070205 familial partial lipodystrophy type 4 Disease_Ontology DOID:0070206 DOID:0070206 familial partial lipodystrophy type 6 Disease_Ontology DOID:0070207 DOID:0070207 familial partial lipodystrophy type 1 Disease_Ontology DOID:0070208 DOID:0070208 hereditary lymphedema IC Disease_Ontology DOID:0070209 DOID:0070209 hereditary lymphedema ID Disease_Ontology DOID:0070210 DOID:0070210 hereditary lymphedema IA Disease_Ontology DOID:0070211 DOID:0070211 hereditary lymphedema IB Disease_Ontology DOID:0070212 DOID:0070212 hereditary lymphedema I Disease_Ontology DOID:0070213 DOID:0070213 hereditary lymphedema II Disease_Ontology DOID:0070214 DOID:0070214 familial hyperinsulinemic hypoglycemia 7 Disease_Ontology DOID:0070215 DOID:0070215 familial hyperinsulinemic hypoglycemia 4 Disease_Ontology DOID:0070216 DOID:0070216 familial hyperinsulinemic hypoglycemia 3 Disease_Ontology DOID:0070217 DOID:0070217 familial hyperinsulinemic hypoglycemia 6 Disease_Ontology DOID:0070218 DOID:0070218 familial hyperinsulinemic hypoglycemia 2 Disease_Ontology DOID:0070219 DOID:0070219 familial hyperinsulinemic hypoglycemia 1 Disease_Ontology DOID:0070220 DOID:0070220 familial hyperinsulinemic hypoglycemia 5 Disease_Ontology DOID:0070221 DOID:0070221 progressive familial intrahepatic cholestasis Disease_Ontology DOID:0070222 DOID:0070222 progressive familial intrahepatic cholestasis 2 Disease_Ontology DOID:0070223 DOID:0070223 progressive familial intrahepatic cholestasis 3 Disease_Ontology DOID:0070224 DOID:0070224 progressive familial intrahepatic cholestasis 4 Disease_Ontology DOID:0070225 DOID:0070225 progressive familial intrahepatic cholestasis 5 Disease_Ontology DOID:0070226 DOID:0070226 progressive familial intrahepatic cholestasis 1 Disease_Ontology DOID:0070227 DOID:0070227 intrahepatic cholestasis of pregnancy Disease_Ontology DOID:0070228 DOID:0070228 intrahepatic cholestasis of pregnancy 1 Disease_Ontology DOID:0070229 DOID:0070229 intrahepatic cholestasis of pregnancy 3 Disease_Ontology DOID:0070230 DOID:0070230 benign recurrent intrahepatic cholestasis Disease_Ontology DOID:0070231 DOID:0070231 benign recurrent intrahepatic cholestasis 1 Disease_Ontology DOID:0070232 DOID:0070232 benign recurrent intrahepatic cholestasis 2 Disease_Ontology DOID:0070233 DOID:0070233 Loeys-Dietz syndrome 4 Disease_Ontology DOID:0070234 DOID:0070234 Loeys-Dietz syndrome 2 Disease_Ontology DOID:0070235 DOID:0070235 Loeys-Dietz syndrome 1 Disease_Ontology DOID:0070236 DOID:0070236 Loeys-Dietz syndrome 5 Disease_Ontology DOID:0070237 DOID:0070237 Loeys-Dietz syndrome 3 Disease_Ontology DOID:0070238 DOID:0070238 primary coenzyme Q10 deficiency 1 Disease_Ontology DOID:0070239 DOID:0070239 primary coenzyme Q10 deficiency 2 Disease_Ontology DOID:0070240 DOID:0070240 primary coenzyme Q10 deficiency 3 Disease_Ontology DOID:0070241 DOID:0070241 primary coenzyme Q10 deficiency 4 Disease_Ontology DOID:0070242 DOID:0070242 primary coenzyme Q10 deficiency 5 Disease_Ontology DOID:0070243 DOID:0070243 primary coenzyme Q10 deficiency 6 Disease_Ontology DOID:0070244 DOID:0070244 primary coenzyme Q10 deficiency 7 Disease_Ontology DOID:0070245 DOID:0070245 primary coenzyme Q10 deficiency 8 Disease_Ontology DOID:0070246 DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 Disease_Ontology DOID:0070247 DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 Disease_Ontology DOID:0070248 DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 Disease_Ontology DOID:0070249 DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 Disease_Ontology DOID:0070250 DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 Disease_Ontology DOID:0070251 DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 Disease_Ontology DOID:0070252 DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 Disease_Ontology DOID:0070253 DOID:0070253 congenital disorder of glycosylation type IIa Disease_Ontology DOID:0070254 DOID:0070254 congenital disorder of glycosylation type IIb Disease_Ontology DOID:0070255 DOID:0070255 congenital disorder of glycosylation type IIc Disease_Ontology DOID:0070256 DOID:0070256 congenital disorder of glycosylation type IId Disease_Ontology DOID:0070257 DOID:0070257 congenital disorder of glycosylation type IIe Disease_Ontology DOID:0070258 DOID:0070258 congenital disorder of glycosylation type IIf Disease_Ontology DOID:0070259 DOID:0070259 congenital disorder of glycosylation type IIg Disease_Ontology DOID:0070260 DOID:0070260 congenital disorder of glycosylation type IIh Disease_Ontology DOID:0070261 DOID:0070261 congenital disorder of glycosylation type IIi Disease_Ontology DOID:0070262 DOID:0070262 congenital disorder of glycosylation type IIj Disease_Ontology DOID:0070263 DOID:0070263 congenital disorder of glycosylation type IIk Disease_Ontology DOID:0070264 DOID:0070264 congenital disorder of glycosylation type IIl Disease_Ontology DOID:0070265 DOID:0070265 congenital disorder of glycosylation type IIm Disease_Ontology DOID:0070266 DOID:0070266 congenital disorder of glycosylation type IIn Disease_Ontology DOID:0070267 DOID:0070267 congenital disorder of glycosylation type IIo Disease_Ontology DOID:0070268 DOID:0070268 congenital disorder of glycosylation type IIp Disease_Ontology DOID:0070269 DOID:0070269 congenital disorder of glycosylation type IIq Disease_Ontology DOID:0070270 DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 Disease_Ontology DOID:0070271 DOID:0070271 Lynch syndrome 1 Disease_Ontology DOID:0070272 DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 Disease_Ontology DOID:0070273 DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 Disease_Ontology DOID:0070274 DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 Disease_Ontology DOID:0070275 DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 Disease_Ontology DOID:0070276 DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 Disease_Ontology DOID:0070277 DOID:0070277 primary autosomal recessive microcephaly 15 Disease_Ontology DOID:0070278 DOID:0070278 primary autosomal recessive microcephaly 7 Disease_Ontology DOID:0070279 DOID:0070279 primary autosomal recessive microcephaly 14 Disease_Ontology DOID:0070280 DOID:0070280 primary autosomal recessive microcephaly 5 Disease_Ontology DOID:0070281 DOID:0070281 primary autosomal recessive microcephaly 19 Disease_Ontology DOID:0070282 DOID:0070282 primary autosomal recessive microcephaly 8 Disease_Ontology DOID:0070283 DOID:0070283 primary autosomal recessive microcephaly 13 Disease_Ontology DOID:0070284 DOID:0070284 primary autosomal recessive microcephaly 12 Disease_Ontology DOID:0070285 DOID:0070285 primary autosomal recessive microcephaly 1 Disease_Ontology DOID:0070286 DOID:0070286 primary autosomal recessive microcephaly 3 Disease_Ontology DOID:0070287 DOID:0070287 primary autosomal recessive microcephaly 11 Disease_Ontology DOID:0070288 DOID:0070288 primary autosomal recessive microcephaly 17 Disease_Ontology DOID:0070289 DOID:0070289 primary autosomal recessive microcephaly 16 Disease_Ontology DOID:0070290 DOID:0070290 primary autosomal recessive microcephaly 6 Disease_Ontology DOID:0070291 DOID:0070291 primary autosomal recessive microcephaly 4 Disease_Ontology DOID:0070292 DOID:0070292 primary autosomal recessive microcephaly 9 Disease_Ontology DOID:0070293 DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations Disease_Ontology DOID:0070294 DOID:0070294 primary autosomal recessive microcephaly 10 Disease_Ontology DOID:0070295 DOID:0070295 primary autosomal dominant microcephaly 18 Disease_Ontology DOID:0070296 DOID:0070296 autosomal recessive primary microcephaly Disease_Ontology DOID:0070297 DOID:0070297 primary microcephaly Disease_Ontology DOID:0070298 DOID:0070298 multiple epiphyseal dysplasia 2 Disease_Ontology DOID:0070299 DOID:0070299 multiple epiphyseal dysplasia 5 Disease_Ontology DOID:0070300 DOID:0070300 multiple epiphyseal dysplasia 4 Disease_Ontology DOID:0070301 DOID:0070301 multiple epiphyseal dysplasia 6 Disease_Ontology DOID:0070302 DOID:0070302 multiple epiphyseal dysplasia 7 Disease_Ontology DOID:0070303 DOID:0070303 multiple epiphyseal dysplasia 1 Disease_Ontology DOID:0070304 DOID:0070304 multiple epiphyseal dysplasia 3 Disease_Ontology DOID:0070305 DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly Disease_Ontology DOID:0070306 DOID:0070306 post-cardiac arrest syndrome Disease_Ontology DOID:0070307 DOID:0070307 craniolenticulosutural dysplasia Disease_Ontology DOID:0070308 DOID:0070308 rippling muscle disease 1 Disease_Ontology DOID:0070309 DOID:0070309 absence epilepsy Disease_Ontology DOID:0070310 DOID:0070310 drug-induced hearing loss Disease_Ontology DOID:0070311 DOID:0070311 oligoasthenoteratozoospermia Disease_Ontology DOID:0070313 DOID:0070313 thiamine deficiency disease Disease_Ontology DOID:0070314 DOID:0070314 obstructive nephropathy Disease_Ontology DOID:0070315 DOID:0070315 hypoplastic right heart syndrome Disease_Ontology DOID:0070316 DOID:0070316 Miura type epiphyseal chondrodysplasia Disease_Ontology DOID:0070317 DOID:0070317 wet beriberi Disease_Ontology DOID:0070318 DOID:0070318 dry beriberi Disease_Ontology DOID:0070319 DOID:0070319 miliaria pustulosa Disease_Ontology DOID:0070320 DOID:0070320 miliaria profunda Disease_Ontology DOID:0070321 DOID:0070321 miliaria crystallina Disease_Ontology DOID:0070322 DOID:0070322 childhood hepatocellular carcinoma Disease_Ontology DOID:0070323 DOID:0070323 childhood acute myeloid leukemia Disease_Ontology DOID:0070324 DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood Disease_Ontology DOID:0070325 DOID:0070325 malignant childhood adrenal gland pheochromocytoma Disease_Ontology DOID:0070326 DOID:0070326 spitzoid melanoma Disease_Ontology DOID:0070327 DOID:0070327 melanoma in congenital melanocytic nevus Disease_Ontology DOID:0070328 DOID:0070328 adult hepatocellular carcinoma Disease_Ontology DOID:0070329 DOID:0070329 mitochondrial DNA depletion syndrome Disease_Ontology DOID:0070330 DOID:0070330 multiple mitochondrial dysfunctions syndrome Disease_Ontology DOID:0070331 DOID:0070331 mitochondrial DNA depletion syndrome 8b Disease_Ontology DOID:0070332 DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 Disease_Ontology DOID:0070333 DOID:0070333 breast implant-associated anaplastic large cell lymphoma Disease_Ontology DOID:0070334 DOID:0070334 vegetable allergy Disease_Ontology DOID:0070335 DOID:0070335 celery allergy Disease_Ontology DOID:0070336 DOID:0070336 arthrogryposis multiplex congenita-6 Disease_Ontology DOID:0070337 DOID:0070337 epithelial recurrent erosion dystrophy Disease_Ontology DOID:0070338 DOID:0070338 cerebellar hypoplasia Disease_Ontology DOID:0070339 DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay Disease_Ontology DOID:0070340 DOID:0070340 classic citrullinemia Disease_Ontology DOID:0070341 DOID:0070341 neonatal-onset type II citrullinemia Disease_Ontology DOID:0070342 DOID:0070342 adult-onset type II citrullinemia Disease_Ontology DOID:0070343 DOID:0070343 CSF1R-related brain malformation and osteopetrosis Disease_Ontology DOID:0070344 DOID:0070344 ocular tuberculosis Disease_Ontology DOID:0070345 DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction Disease_Ontology DOID:0070346 DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies Disease_Ontology DOID:0070347 DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 Disease_Ontology DOID:0070348 DOID:0070348 spinal muscular atrophy with lower extremity predominant Disease_Ontology DOID:0070349 DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A Disease_Ontology DOID:0070350 DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B Disease_Ontology DOID:0070351 DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 Disease_Ontology DOID:0070352 DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Disease_Ontology DOID:0070353 DOID:0070353 cataract 47 Disease_Ontology DOID:0070354 DOID:0070354 cataract 48 Disease_Ontology DOID:0070355 DOID:0070355 overactive bladder syndrome Disease_Ontology DOID:0070356 DOID:0070356 visual impairment and progressive phthisis bulbi Disease_Ontology DOID:0070357 DOID:0070357 nephrotic syndrome type 20 Disease_Ontology DOID:0070358 DOID:0070358 primary biliary cholangitis 1 Disease_Ontology DOID:0070359 DOID:0070359 primary biliary cholangitis 2 Disease_Ontology DOID:0070360 DOID:0070360 primary biliary cholangitis 3 Disease_Ontology DOID:0070361 DOID:0070361 primary biliary cholangitis 4 Disease_Ontology DOID:0070362 DOID:0070362 primary biliary cholangitis 5 Disease_Ontology DOID:0070363 DOID:0070363 bradyopsia 1 Disease_Ontology DOID:0070364 DOID:0070364 bradyopsia 2 Disease_Ontology DOID:0070365 DOID:0070365 nevoid basal cell carcinoma syndrome 1 Disease_Ontology DOID:0070366 DOID:0070366 nevoid basal cell carcinoma syndrome 2 Disease_Ontology DOID:0070367 DOID:0070367 leukoencephalopathy with vanishing white matter 5 Disease_Ontology DOID:0070368 DOID:0070368 autosomal recessive chronic granulomatous disease 5 Disease_Ontology DOID:0070369 DOID:0070369 restrictive dermopathy 1 Disease_Ontology DOID:0070370 DOID:0070370 restrictive dermopathy 2 Disease_Ontology DOID:0070371 DOID:0070371 leukoencephalopathy with vanishing white matter 4 Disease_Ontology DOID:0070372 DOID:0070372 leukoencephalopathy with vanishing white matter 3 Disease_Ontology DOID:0070373 DOID:0070373 leukoencephalopathy with vanishing white matter 2 Disease_Ontology DOID:0070374 DOID:0070374 leukoencephalopathy with vanishing white matter 1 Disease_Ontology DOID:0070375 DOID:0070375 developmental and epileptic encephalopathy 64 Disease_Ontology DOID:0070376 DOID:0070376 developmental and epileptic encephalopathy 31B Disease_Ontology DOID:0070377 DOID:0070377 developmental and epileptic encephalopathy 96 Disease_Ontology DOID:0070378 DOID:0070378 developmental and epileptic encephalopathy 109 Disease_Ontology DOID:0070379 DOID:0070379 developmental and epileptic encephalopathy 6B Disease_Ontology DOID:0070380 DOID:0070380 developmental and epileptic encephalopathy 85 Disease_Ontology DOID:0070381 DOID:0070381 developmental and epileptic encephalopathy 90 Disease_Ontology DOID:0070382 DOID:0070382 developmental and epileptic encephalopathy 95 Disease_Ontology DOID:0070383 DOID:0070383 developmental and epileptic encephalopathy 97 Disease_Ontology DOID:0070384 DOID:0070384 developmental and epileptic encephalopathy 98 Disease_Ontology DOID:0070385 DOID:0070385 developmental and epileptic encephalopathy 99 Disease_Ontology DOID:0070386 DOID:0070386 developmental and epileptic encephalopathy 100 Disease_Ontology DOID:0070387 DOID:0070387 developmental and epileptic encephalopathy 101 Disease_Ontology DOID:0070388 DOID:0070388 developmental and epileptic encephalopathy 102 Disease_Ontology DOID:0070389 DOID:0070389 developmental and epileptic encephalopathy 103 Disease_Ontology DOID:0070390 DOID:0070390 developmental and epileptic encephalopathy 104 Disease_Ontology DOID:0070391 DOID:0070391 developmental and epileptic encephalopathy 105 Disease_Ontology DOID:0070392 DOID:0070392 developmental and epileptic encephalopathy 106 Disease_Ontology DOID:0070393 DOID:0070393 developmental and epileptic encephalopathy 107 Disease_Ontology DOID:0070394 DOID:0070394 developmental and epileptic encephalopathy 108 Disease_Ontology DOID:0070395 DOID:0070395 developmental and epileptic encephalopathy 110 Disease_Ontology DOID:0070396 DOID:0070396 progressive leukoencephalopathy with ovarian failure Disease_Ontology DOID:0070397 DOID:0070397 hypomyelinating leukodystrophy 23 Disease_Ontology DOID:0070398 DOID:0070398 hypomyelinating leukodystrophy 15 Disease_Ontology DOID:0070399 DOID:0070399 hypomyelinating leukodystrophy 18 Disease_Ontology DOID:0070400 DOID:0070400 hypomyelinating leukodystrophy 19 Disease_Ontology DOID:0070401 DOID:0070401 hypomyelinating leukodystrophy 25 Disease_Ontology DOID:0070402 DOID:0070402 hypomyelinating leukodystrophy 22 Disease_Ontology DOID:0070403 DOID:0070403 hypomyelinating leukodystrophy 26 Disease_Ontology DOID:0070404 DOID:0070404 hypomyelinating leukodystrophy 17 Disease_Ontology DOID:0070405 DOID:0070405 hypomyelinating leukodystrophy 16 Disease_Ontology DOID:0070406 DOID:0070406 hypomyelinating leukodystrophy 24 Disease_Ontology DOID:0070407 DOID:0070407 hypomyelinating leukodystrophy 21 Disease_Ontology DOID:0070408 DOID:0070408 Hengel-Maroofian-Schols syndrome Disease_Ontology DOID:0070409 DOID:0070409 autosomal recessive spinocerebellar ataxia 28 Disease_Ontology DOID:0070410 DOID:0070410 autosomal recessive spinocerebellar ataxia 29 Disease_Ontology DOID:0070411 DOID:0070411 autosomal recessive spinocerebellar ataxia 30 Disease_Ontology DOID:0070412 DOID:0070412 autosomal recessive spinocerebellar ataxia 31 Disease_Ontology DOID:0070413 DOID:0070413 autosomal recessive spinocerebellar ataxia 32 Disease_Ontology DOID:0070414 DOID:0070414 autosomal recessive spinocerebellar ataxia 33 Disease_Ontology DOID:0070415 DOID:0070415 brachycephaly, trichomegaly, and developmental delay Disease_Ontology DOID:0070416 DOID:0070416 Luo-Schoch-Yamamoto syndrome Disease_Ontology DOID:0070417 DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies Disease_Ontology DOID:0070418 DOID:0070418 vertebral hypersegmentation and orofacial anomalies Disease_Ontology DOID:0070419 DOID:0070419 acrocardiofacial syndrome Disease_Ontology DOID:0070420 DOID:0070420 developmental delay, hypotonia, and impaired language Disease_Ontology DOID:0070421 DOID:0070421 neurodevelopmental disorder with spasticity and poor growth Disease_Ontology DOID:0070422 DOID:0070422 syndromic X-linked intellectual disability Pilorge type Disease_Ontology DOID:0070423 DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum Disease_Ontology DOID:0070424 DOID:0070424 combined oxidative phosphorylation deficiency 44 Disease_Ontology DOID:0070425 DOID:0070425 combined oxidative phosphorylation deficiency 52 Disease_Ontology DOID:0070426 DOID:0070426 combined oxidative phosphorylation deficiency 53 Disease_Ontology DOID:0070427 DOID:0070427 combined oxidative phosphorylation deficiency 54 Disease_Ontology DOID:0070428 DOID:0070428 combined oxidative phosphorylation deficiency 55 Disease_Ontology DOID:0070429 DOID:0070429 combined oxidative phosphorylation deficiency 56 Disease_Ontology DOID:0070430 DOID:0070430 combined oxidative phosphorylation deficiency 57 Disease_Ontology DOID:0070431 DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome Disease_Ontology DOID:0070432 DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 Disease_Ontology DOID:0070433 DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 Disease_Ontology DOID:0070434 DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 Disease_Ontology DOID:0070435 DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 Disease_Ontology DOID:0070436 DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 Disease_Ontology DOID:0070437 DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 Disease_Ontology DOID:0070438 DOID:0070438 retinal macular dystrophy Disease_Ontology DOID:0070439 DOID:0070439 North Carolina macular dystrophy Disease_Ontology DOID:0070440 DOID:0070440 retinal macular dystrophy 3 Disease_Ontology DOID:0070441 DOID:0070441 retinal macular dystrophy 4 Disease_Ontology DOID:0070442 DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 Disease_Ontology DOID:0070443 DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction Disease_Ontology DOID:0070444 DOID:0070444 neurodevelopmental disorder with language delay and seizures Disease_Ontology DOID:0070445 DOID:0070445 early-onset dystonia and/or spastic paraplegia Disease_Ontology DOID:0070446 DOID:0070446 mitochondrial DNA depletion syndrome 16 Disease_Ontology DOID:0070447 DOID:0070447 mitochondrial DNA depletion syndrome 16B Disease_Ontology DOID:0070448 DOID:0070448 mitochondrial DNA depletion syndrome 17 Disease_Ontology DOID:0070449 DOID:0070449 mitochondrial DNA depletion syndrome 18 Disease_Ontology DOID:0070450 DOID:0070450 mitochondrial DNA depletion syndrome 19 Disease_Ontology DOID:0070451 DOID:0070451 mitochondrial DNA depletion syndrome 20 Disease_Ontology DOID:0070452 DOID:0070452 xanthinuria type I Disease_Ontology DOID:0070453 DOID:0070453 xanthinuria type II Disease_Ontology DOID:0070454 DOID:0070454 hereditary spastic paraplegia 70 Disease_Ontology DOID:0070455 DOID:0070455 hereditary spastic paraplegia 79A Disease_Ontology DOID:0070456 DOID:0070456 hereditary spastic paraplegia 87 Disease_Ontology DOID:0070457 DOID:0070457 hereditary spastic paraplegia 88 Disease_Ontology DOID:0070458 DOID:0070458 hereditary spastic paraplegia 89 Disease_Ontology DOID:0070459 DOID:0070459 hereditary spastic paraplegia 90A Disease_Ontology DOID:0070460 DOID:0070460 hereditary spastic paraplegia 90B Disease_Ontology DOID:0070461 DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A Disease_Ontology DOID:0070462 DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Disease_Ontology DOID:0070463 DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 Disease_Ontology DOID:0070464 DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 Disease_Ontology DOID:0070465 DOID:0070465 autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 Disease_Ontology DOID:0070466 DOID:0070466 carpal tunnel syndrome 1 Disease_Ontology DOID:0070467 DOID:0070467 carpal tunnel syndrome 2 Disease_Ontology DOID:0070468 DOID:0070468 Yoon-Bellen neurodevelopmental syndrome Disease_Ontology DOID:0070469 DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Disease_Ontology DOID:0070470 DOID:0070470 chromosome 1p36.33 duplication syndrome Disease_Ontology DOID:0070471 DOID:0070471 early-onset epilepsy 2 Disease_Ontology DOID:0070472 DOID:0070472 early-onset epilepsy 3 Disease_Ontology DOID:0070473 DOID:0070473 Zaki syndrome Disease_Ontology DOID:0070474 DOID:0070474 childhood-onset neurodegeneration with brain atrophy Disease_Ontology DOID:0070475 DOID:0070475 SMARCB1-deficient renal medullary carcinoma Disease_Ontology DOID:0070476 DOID:0070476 diphthamide deficiency syndrome Disease_Ontology DOID:0070477 DOID:0070477 diphthamide deficiency syndrome 1 Disease_Ontology DOID:0070478 DOID:0070478 diphthamide deficiency syndrome 2 Disease_Ontology DOID:0070479 DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties Disease_Ontology DOID:0070480 DOID:0070480 schwannomatosis 1 Disease_Ontology DOID:0070481 DOID:0070481 schwannomatosis 2 Disease_Ontology DOID:0070482 DOID:0070482 spinal neurofibromatosis Disease_Ontology DOID:0070483 DOID:0070483 Watson syndrome Disease_Ontology DOID:0070484 DOID:0070484 Legius syndrome Disease_Ontology DOID:0070485 DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 Disease_Ontology DOID:0070486 DOID:0070486 Parkinson's disease 25 Disease_Ontology DOID:0070487 DOID:0070487 dopamine transporter deficiency syndrome Disease_Ontology DOID:0070488 DOID:0070488 atypical dopamine transporter deficiency syndrome Disease_Ontology DOID:0070489 DOID:0070489 classic dopamine transporter deficiency syndrome Disease_Ontology DOID:0070490 DOID:0070490 infantile parkinsonism-dystonia 2 Disease_Ontology DOID:0070491 DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 Disease_Ontology DOID:0070492 DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 Disease_Ontology DOID:0070493 DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 Disease_Ontology DOID:0070494 DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 Disease_Ontology DOID:0070495 DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 Disease_Ontology DOID:0070496 DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 Disease_Ontology DOID:0070497 DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 Disease_Ontology DOID:0070498 DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 Disease_Ontology DOID:0070499 DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 Disease_Ontology DOID:0070500 DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 Disease_Ontology DOID:0070501 DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 Disease_Ontology DOID:0070502 DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 Disease_Ontology DOID:0070503 DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 Disease_Ontology DOID:0070504 DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 Disease_Ontology DOID:0070505 DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 Disease_Ontology DOID:0070506 DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 Disease_Ontology DOID:0070507 DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 Disease_Ontology DOID:0070508 DOID:0070508 metabolic dysfunction and alcohol associated liver disease Disease_Ontology DOID:0070509 DOID:0070509 Schinzel Giedion syndrome Disease_Ontology DOID:0070510 DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses Disease_Ontology DOID:0070511 DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy Disease_Ontology DOID:0070512 DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay Disease_Ontology DOID:0070513 DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities Disease_Ontology DOID:0070514 DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Disease_Ontology DOID:0070515 DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb Disease_Ontology DOID:0070516 DOID:0070516 Mitchell syndrome Disease_Ontology DOID:0070517 DOID:0070517 retinal macular dystrophy 2 Disease_Ontology DOID:0070518 DOID:0070518 familial multiple lipomatosis Disease_Ontology DOID:0070519 DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 Disease_Ontology DOID:0070520 DOID:0070520 peeling skin syndrome 1 Disease_Ontology DOID:0070521 DOID:0070521 peeling skin syndrome 2 Disease_Ontology DOID:0070522 DOID:0070522 peeling skin syndrome 3 Disease_Ontology DOID:0070523 DOID:0070523 peeling skin syndrome 4 Disease_Ontology DOID:0070524 DOID:0070524 peeling skin syndrome 5 Disease_Ontology DOID:0070525 DOID:0070525 peeling skin syndrome 6 Disease_Ontology DOID:0070526 DOID:0070526 PLACK syndrome Disease_Ontology DOID:0070527 DOID:0070527 Borrelia miyamotoi disease Disease_Ontology DOID:0070528 DOID:0070528 cepacia syndrome Disease_Ontology DOID:0070529 DOID:0070529 Sifrim-Hitz-Weiss syndrome Disease_Ontology DOID:0070530 DOID:0070530 foveal hypoplasia 1 Disease_Ontology DOID:0070531 DOID:0070531 foveal hypoplasia 2 Disease_Ontology DOID:0070532 DOID:0070532 aniridia 1 Disease_Ontology DOID:0070533 DOID:0070533 long QT syndrome 16 Disease_Ontology DOID:0070534 DOID:0070534 arrhythmogenic left ventricular cardiomyopathy Disease_Ontology DOID:0070535 DOID:0070535 arrhythmogenic biventricular cardiomyopathy Disease_Ontology DOID:0070536 DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Disease_Ontology DOID:0070537 DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly Disease_Ontology DOID:0070538 DOID:0070538 syndromic X-linked intellectual developmental disorder bain type Disease_Ontology DOID:0070539 DOID:0070539 Halperin-Birk syndrome Disease_Ontology DOID:0070540 DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Disease_Ontology DOID:0070541 DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Disease_Ontology DOID:0070542 DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly Disease_Ontology DOID:0070543 DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Disease_Ontology DOID:0070544 DOID:0070544 congenital glutamine deficiency Disease_Ontology DOID:0070545 DOID:0070545 developmental and epileptic encephalopathy 116 Disease_Ontology DOID:0070546 DOID:0070546 primary pigmented nodular adrenocortical disease 1 Disease_Ontology DOID:0070547 DOID:0070547 primary pigmented nodular adrenocortical disease 2 Disease_Ontology DOID:0070548 DOID:0070548 primary pigmented nodular adrenocortical disease 3 Disease_Ontology DOID:0070549 DOID:0070549 primary pigmented nodular adrenocortical disease 4 Disease_Ontology DOID:0070550 DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma Disease_Ontology DOID:0070551 DOID:0070551 epidermolytic palmoplantar keratoderma 2 Disease_Ontology DOID:0070552 DOID:0070552 epidermolytic palmoplantar keratoderma 1 Disease_Ontology DOID:0070553 DOID:0070553 focal palmoplantar and gingival keratosis Disease_Ontology DOID:0070554 DOID:0070554 palmoplantar keratoderma and woolly hair Disease_Ontology DOID:0070555 DOID:0070555 Nagashima-type palmoplantar keratosis Disease_Ontology DOID:0070556 DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 Disease_Ontology DOID:0070557 DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 Disease_Ontology DOID:0070558 DOID:0070558 autosomal recessive spinocerebellar ataxia 34 Disease_Ontology DOID:0070559 DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 Disease_Ontology DOID:0070560 DOID:0070560 glucose transporter type 1 deficiency syndrome Disease_Ontology DOID:0070561 DOID:0070561 glucose transporter type 1 deficiency syndrome 1 Disease_Ontology DOID:0070562 DOID:0070562 Fanconi-Bickel syndrome Disease_Ontology DOID:0070563 DOID:0070563 glucose-galactose malabsorption Disease_Ontology DOID:0070564 DOID:0070564 dialysis disequilibrium syndrome Disease_Ontology DOID:0070565 DOID:0070565 spermatogenic failure 66 Disease_Ontology DOID:0070566 DOID:0070566 spermatogenic failure 67 Disease_Ontology DOID:0070567 DOID:0070567 spermatogenic failure 68 Disease_Ontology DOID:0070568 DOID:0070568 spermatogenic failure 69 Disease_Ontology DOID:0070569 DOID:0070569 spermatogenic failure 70 Disease_Ontology DOID:0070570 DOID:0070570 spermatogenic failure 71 Disease_Ontology DOID:0070571 DOID:0070571 spermatogenic failure 72 Disease_Ontology DOID:0070572 DOID:0070572 spermatogenic failure 73 Disease_Ontology DOID:0070573 DOID:0070573 spermatogenic failure 74 Disease_Ontology DOID:0070574 DOID:0070574 spermatogenic failure 75 Disease_Ontology DOID:0070575 DOID:0070575 spermatogenic failure 76 Disease_Ontology DOID:0070576 DOID:0070576 spermatogenic failure 77 Disease_Ontology DOID:0070577 DOID:0070577 spermatogenic failure 78 Disease_Ontology DOID:0070578 DOID:0070578 spermatogenic failure 79 Disease_Ontology DOID:0070579 DOID:0070579 spermatogenic failure 80 Disease_Ontology DOID:0070580 DOID:0070580 spermatogenic failure 81 Disease_Ontology DOID:0070581 DOID:0070581 spermatogenic failure 82 Disease_Ontology DOID:0070582 DOID:0070582 spermatogenic failure 83 Disease_Ontology DOID:0070583 DOID:0070583 spermatogenic failure 84 Disease_Ontology DOID:0070584 DOID:0070584 spermatogenic failure 85 Disease_Ontology DOID:0070585 DOID:0070585 spermatogenic failure 86 Disease_Ontology DOID:0070586 DOID:0070586 spermatogenic failure 87 Disease_Ontology DOID:0070587 DOID:0070587 spermatogenic failure 88 Disease_Ontology DOID:0070588 DOID:0070588 spermatogenic failure 89 Disease_Ontology DOID:0070589 DOID:0070589 spermatogenic failure 90 Disease_Ontology DOID:0070590 DOID:0070590 spermatogenic failure 91 Disease_Ontology DOID:0070591 DOID:0070591 spermatogenic failure 92 Disease_Ontology DOID:0070592 DOID:0070592 spermatogenic failure 93 Disease_Ontology DOID:0070593 DOID:0070593 spermatogenic failure 94 Disease_Ontology DOID:0070594 DOID:0070594 spermatogenic failure 95 Disease_Ontology DOID:0070595 DOID:0070595 X-linked spermatogenic failure 4 Disease_Ontology DOID:0070596 DOID:0070596 X-linked spermatogenic failure 5 Disease_Ontology DOID:0070597 DOID:0070597 X-linked spermatogenic failure 6 Disease_Ontology DOID:0070598 DOID:0070598 X-linked spermatogenic failure 7 Disease_Ontology DOID:0070599 DOID:0070599 X-linked spermatogenic failure 8 Disease_Ontology DOID:0070600 DOID:0070600 intellectual disability and myopathy syndrome Disease_Ontology DOID:0070601 DOID:0070601 autosomal dominant nonsyndromic deafness 37 Disease_Ontology DOID:0070602 DOID:0070602 autosomal dominant nonsyndromic deafness 80 Disease_Ontology DOID:0070603 DOID:0070603 autosomal dominant nonsyndromic deafness 82 Disease_Ontology DOID:0070604 DOID:0070604 autosomal dominant nonsyndromic deafness 84 Disease_Ontology DOID:0070605 DOID:0070605 autosomal dominant nonsyndromic deafness 85 Disease_Ontology DOID:0070606 DOID:0070606 autosomal dominant nonsyndromic deafness 87 Disease_Ontology DOID:0070607 DOID:0070607 autosomal dominant nonsyndromic deafness 90 Disease_Ontology DOID:0070608 DOID:0070608 autosomal dominant nonsyndromic deafness 81 Disease_Ontology DOID:0070609 DOID:0070609 autosomal dominant nonsyndromic deafness 83 Disease_Ontology DOID:0070610 DOID:0070610 autosomal dominant nonsyndromic deafness 86 Disease_Ontology DOID:0070611 DOID:0070611 autosomal dominant nonsyndromic deafness 88 Disease_Ontology DOID:0070612 DOID:0070612 autosomal dominant nonsyndromic deafness 89 Disease_Ontology DOID:0070613 DOID:0070613 familial renal glucosuria Disease_Ontology DOID:0070614 DOID:0070614 chromosome 11 partial duplication syndrome Disease_Ontology DOID:0070615 DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome Disease_Ontology DOID:0070616 DOID:0070616 glycine encephalopathy 1 Disease_Ontology DOID:0070617 DOID:0070617 rhabdoid tumor predisposition syndrome Disease_Ontology DOID:0070618 DOID:0070618 rhabdoid tumor predisposition syndrome 1 Disease_Ontology DOID:0070619 DOID:0070619 mitochondrial trifunctional protein deficiency 1 Disease_Ontology DOID:0070620 DOID:0070620 ring chromosome syndrome Disease_Ontology DOID:0070621 DOID:0070621 ring chromosome 14 syndrome Disease_Ontology DOID:0070622 DOID:0070622 ring chromosome 20 syndrome Disease_Ontology DOID:0070623 DOID:0070623 B-lymphoblastic leukemia with MEF2D rearrangement Disease_Ontology DOID:0070624 DOID:0070624 B-lymphoblastic leukemia with MYC rearrangement Disease_Ontology DOID:0070625 DOID:0070625 B-lymphoblastic leukemia with NUTM1 rearrangement Disease_Ontology DOID:0070626 DOID:0070626 B-lymphoblastic leukemia with PAX5alt Disease_Ontology DOID:0070627 DOID:0070627 B-lymphoblastic leukemia with TCF3-HLF fusion Disease_Ontology DOID:0070628 DOID:0070628 B-lymphoblastic leukemia with ZNF384 rearrangement Disease_Ontology DOID:0070629 DOID:0070629 acute myeloid leukemia with CBFA2T3-GLIS2 fusion Disease_Ontology DOID:0070630 DOID:0070630 acute myeloid leukemia with KAT6A-CREBBP fusion Disease_Ontology DOID:0070631 DOID:0070631 acute myeloid leukemia with FUS-ERG fusion Disease_Ontology DOID:0070632 DOID:0070632 acute myeloid leukemia with MNX1-ETV6 fusion Disease_Ontology DOID:0070633 DOID:0070633 acute myeloid leukemia with NPM1-MLF1 fusion Disease_Ontology DOID:0070634 DOID:0070634 sitosterolemia 1 Disease_Ontology DOID:0070635 DOID:0070635 cardiovascular-kidney-metabolic syndrome Disease_Ontology DOID:0070636 DOID:0070636 mirror movements 1 Disease_Ontology DOID:0070637 DOID:0070637 mirror movements 2 Disease_Ontology DOID:0070638 DOID:0070638 mirror movements 4 Disease_Ontology DOID:0070639 DOID:0070639 mirror movements 3 Disease_Ontology DOID:0070640 DOID:0070640 hereditary spastic paraplegia 18A Disease_Ontology DOID:0070641 DOID:0070641 hereditary spastic paraplegia 18B Disease_Ontology DOID:0070642 DOID:0070642 hereditary spastic paraplegia 72B Disease_Ontology DOID:0070643 DOID:0070643 hereditary spastic paraplegia 91 Disease_Ontology DOID:0070644 DOID:0070644 hereditary spastic paraplegia 92 Disease_Ontology DOID:0070645 DOID:0070645 hereditary spastic paraplegia 93 Disease_Ontology DOID:0070646 DOID:0070646 hereditary spastic paraplegia 30B Disease_Ontology DOID:0070647 DOID:0070647 hereditary spastic paraplegia 30A Disease_Ontology DOID:0070648 DOID:0070648 cherubism Disease_Ontology DOID:0070649 DOID:0070649 cherubism 2 Disease_Ontology DOID:0070650 DOID:0070650 Ramon syndrome Disease_Ontology DOID:0070651 DOID:0070651 neurodevelopmental disorder with seizures and gingival overgrowth Disease_Ontology DOID:0070652 DOID:0070652 Nil-Deshwar neurodevelopmental syndrome Disease_Ontology DOID:0070653 DOID:0070653 Fliedner-Zweier syndrome Disease_Ontology DOID:0070654 DOID:0070654 desmosterolosis Disease_Ontology DOID:0070655 DOID:0070655 Usher syndrome type 1B Disease_Ontology DOID:0070656 DOID:0070656 hamartoma syndrome Disease_Ontology DOID:0070657 DOID:0070657 congenital variant of Rett syndrome Disease_Ontology DOID:0070658 DOID:0070658 alcohol-associated liver disease Disease_Ontology DOID:0070659 DOID:0070659 alpha-gal syndrome Disease_Ontology DOID:0070660 DOID:0070660 Lafora disease 1 Disease_Ontology DOID:0070661 DOID:0070661 muscle dysmorphic disorder Disease_Ontology DOID:0070662 DOID:0070662 subcutaneous panniculitis-like T-cell lymphoma Disease_Ontology DOID:0070663 DOID:0070663 soft tissue sarcoma Disease_Ontology DOID:0070664 DOID:0070664 oropharyngeal squamous cell carcinoma Disease_Ontology DOID:0070665 DOID:0070665 lipofibromatosis Disease_Ontology DOID:0070666 DOID:0070666 infantile myofibromatosis 1 Disease_Ontology DOID:0070667 DOID:0070667 infantile myofibromatosis 2 Disease_Ontology DOID:0070668 DOID:0070668 Snijders Blok-Campeau syndrome Disease_Ontology DOID:0070669 DOID:0070669 autosomal recessive nonsyndromic deafness 122 Disease_Ontology DOID:0070670 DOID:0070670 autosomal recessive nonsyndromic deafness 123 Disease_Ontology DOID:0070671 DOID:0070671 autosomal recessive nonsyndromic deafness 117 Disease_Ontology DOID:0070672 DOID:0070672 autosomal recessive nonsyndromic deafness 118 Disease_Ontology DOID:0070673 DOID:0070673 autosomal recessive nonsyndromic deafness 119 Disease_Ontology DOID:0070674 DOID:0070674 autosomal recessive nonsyndromic deafness 120 Disease_Ontology DOID:0070675 DOID:0070675 autosomal recessive nonsyndromic deafness 121 Disease_Ontology DOID:0070676 DOID:0070676 autosomal recessive nonsyndromic deafness 124 Disease_Ontology DOID:0070677 DOID:0070677 Ferguson-Bonni neurodevelopmental syndrome Disease_Ontology DOID:0070678 DOID:0070678 congenital hypomyelinating neuropathy Disease_Ontology DOID:0070679 DOID:0070679 congenital hypomyelinating neuropathy 2 Disease_Ontology DOID:0070680 DOID:0070680 congenital hypomyelinating neuropathy 3 Disease_Ontology DOID:0070681 DOID:0070681 congenital hydrocephalus Disease_Ontology DOID:0070682 DOID:0070682 congenital hydrocephalus 1 Disease_Ontology DOID:0070683 DOID:0070683 congenital hydrocephalus 2 Disease_Ontology DOID:0070684 DOID:0070684 congenital hydrocephalus 3 Disease_Ontology DOID:0070685 DOID:0070685 congenital hydrocephalus 4 Disease_Ontology DOID:0070686 DOID:0070686 X-linked congenital hydrocephalus Disease_Ontology DOID:0070687 DOID:0070687 normal pressure hydrocephalus 1 Disease_Ontology DOID:0070688 DOID:0070688 autosomal recessive congenital indifference to pain Disease_Ontology DOID:0070689 DOID:0070689 hereditary sensory and autonomic neuropathy type 2D Disease_Ontology DOID:0070690 DOID:0070690 lobodontia Disease_Ontology DOID:0070691 DOID:0070691 craniosynostosis-scoliosis syndrome Disease_Ontology DOID:0070692 DOID:0070692 Davis-Wells syndrome Disease_Ontology DOID:0070693 DOID:0070693 Ebstein-Bezieau neurodevelopmental syndrome Disease_Ontology DOID:0070694 DOID:0070694 neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities Disease_Ontology DOID:0070695 DOID:0070695 Yu-Kury neurodevelopmental syndrome Disease_Ontology DOID:0070696 DOID:0070696 neurodevelopmental disorder with seizures, hypotonia, and variable spasticity Disease_Ontology DOID:0070697 DOID:0070697 neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter Disease_Ontology DOID:0070698 DOID:0070698 X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities Disease_Ontology DOID:0070699 DOID:0070699 STAD syndrome Disease_Ontology DOID:0070700 DOID:0070700 Luo-Agrawal neurodevelopmental syndrome Disease_Ontology DOID:0070701 DOID:0070701 small fiber neuropathy Disease_Ontology DOID:0070702 DOID:0070702 measles inclusion body encephalitis Disease_Ontology DOID:0070703 DOID:0070703 Meckel syndrome 14 Disease_Ontology DOID:0070704 DOID:0070704 dentin dysplasia type IA Disease_Ontology DOID:0070705 DOID:0070705 dentin dysplasia type IB Disease_Ontology DOID:0070706 DOID:0070706 dentin dysplasia type IC Disease_Ontology DOID:0070707 DOID:0070707 dentin dysplasia type II Disease_Ontology DOID:0070708 DOID:0070708 dentin dysplasia with sclerotic bones Disease_Ontology DOID:0070709 DOID:0070709 Popov-Chang syndrome Disease_Ontology DOID:0070710 DOID:0070710 neurodevelopmental disorder with speech delay and behavioral abnormalities Disease_Ontology DOID:0070711 DOID:0070711 Harel-Tora neurodevelopmental syndrome Disease_Ontology DOID:0070712 DOID:0070712 developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies Disease_Ontology DOID:0070713 DOID:0070713 neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities Disease_Ontology DOID:0070714 DOID:0070714 neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities Disease_Ontology DOID:0070715 DOID:0070715 Ramond-Elliott neurodevelopmental syndrome Disease_Ontology DOID:0070716 DOID:0070716 progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia Disease_Ontology DOID:0070717 DOID:0070717 developmental delay with sleep apnea Disease_Ontology DOID:0070718 DOID:0070718 neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia Disease_Ontology DOID:0070719 DOID:0070719 neurocardiorenal malformation syndrome Disease_Ontology DOID:0070720 DOID:0070720 immune dysregulation, neurodevelopmental defects, and colitis Disease_Ontology DOID:0070721 DOID:0070721 Valence-Farazi cerebellar ataxia syndrome Disease_Ontology DOID:0070722 DOID:0070722 adult-onset leukoencephalopathy without lacunae Disease_Ontology DOID:0070723 DOID:0070723 dyschromatosis, ichthyosis, deafness, and atopic disease Disease_Ontology DOID:0070724 DOID:0070724 dental radicular dysplasia Disease_Ontology DOID:0070725 DOID:0070725 spermatogenic failure 96 Disease_Ontology DOID:0070726 DOID:0070726 spermatogenic failure 97 Disease_Ontology DOID:0070727 DOID:0070727 spermatogenic failure 98 Disease_Ontology DOID:0070728 DOID:0070728 spermatogenic failure 99 Disease_Ontology DOID:0070729 DOID:0070729 spermatogenic failure 100 Disease_Ontology DOID:0070730 DOID:0070730 spermatogenic failure 101 Disease_Ontology DOID:0070731 DOID:0070731 spermatogenic failure 102 Disease_Ontology DOID:0070732 DOID:0070732 familial juvenile hyperuricemic nephropathy 3 Disease_Ontology DOID:0070733 DOID:0070733 multiple mitochondrial dysfunctions syndrome 7 Disease_Ontology DOID:0070734 DOID:0070734 episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy Disease_Ontology DOID:0070735 DOID:0070735 auditory neuropathy and optic atrophy Disease_Ontology DOID:0070736 DOID:0070736 multiple mitochondrial dysfunctions syndrome 9B Disease_Ontology DOID:0070737 DOID:0070737 multiple mitochondrial dysfunctions syndrome 10 Disease_Ontology DOID:0070738 DOID:0070738 Al Kaissi syndrome Disease_Ontology DOID:0070739 DOID:0070739 autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures Disease_Ontology DOID:0070740 DOID:0070740 cerebellar atrophy, developmental delay, and seizures Disease_Ontology DOID:0070741 DOID:0070741 cerebellar atrophy with seizures and variable developmental delay Disease_Ontology DOID:0070742 DOID:0070742 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Disease_Ontology DOID:0070743 DOID:0070743 congenital facial palsy with ptosis and velopharyngeal dysfunction Disease_Ontology DOID:0070744 DOID:0070744 early childhood-onset progressive leukodystrophy Disease_Ontology DOID:0070745 DOID:0070745 early-onset progressive encephalopathy with brain atrophy and spasticity Disease_Ontology DOID:0070746 DOID:0070746 HELIX syndrome Disease_Ontology DOID:0070747 DOID:0070747 immunodeficiency, developmental delay, and hypohomocysteinemia Disease_Ontology DOID:0070748 DOID:0070748 joint laxity, short stature, and myopia Disease_Ontology DOID:0070749 DOID:0070749 Mendez-Johnson immunoneurologic syndrome Disease_Ontology DOID:0070750 DOID:0070750 mitochondrial myopathy and ataxia Disease_Ontology DOID:0070751 DOID:0070751 mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures Disease_Ontology DOID:0070752 DOID:0070752 neonatal severe encephalopathy with lactic acidosis and brain abnormalities Disease_Ontology DOID:0070753 DOID:0070753 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter Disease_Ontology DOID:0070754 DOID:0070754 neurodevelopmental disorder with microcephaly, ataxia, and seizures Disease_Ontology DOID:0070755 DOID:0070755 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Disease_Ontology DOID:0070756 DOID:0070756 neurodevelopmental disorder with variable motor and speech impairment Disease_Ontology DOID:0070757 DOID:0070757 Pilarowski-Bjornsson syndrome Disease_Ontology DOID:0070758 DOID:0070758 primary ciliary dyskinesia 46 Disease_Ontology DOID:0070759 DOID:0070759 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6 Disease_Ontology DOID:0070760 DOID:0070760 primary ciliary dyskinesia 47 and lissencephaly Disease_Ontology DOID:0070761 DOID:0070761 primary ciliary dyskinesia 48 Disease_Ontology DOID:0070762 DOID:0070762 primary ciliary dyskinesia 49 Disease_Ontology DOID:0070763 DOID:0070763 primary ciliary dyskinesia 50 Disease_Ontology DOID:0070764 DOID:0070764 primary ciliary dyskinesia 51 Disease_Ontology DOID:0070765 DOID:0070765 primary ciliary dyskinesia 52 Disease_Ontology DOID:0070766 DOID:0070766 primary ciliary dyskinesia 53 Disease_Ontology DOID:0070767 DOID:0070767 primary ciliary dyskinesia 54 Disease_Ontology DOID:0070768 DOID:0070768 peri-implant disease Disease_Ontology DOID:0070769 DOID:0070769 peri-implant mucositis Disease_Ontology DOID:0070770 DOID:0070770 peri-implantitis Disease_Ontology DOID:0070771 DOID:0070771 gingival fibromatosis 1 Disease_Ontology DOID:0070772 DOID:0070772 gingival fibromatosis 2 Disease_Ontology DOID:0070773 DOID:0070773 gingival fibromatosis 3 Disease_Ontology DOID:0070774 DOID:0070774 gingival fibromatosis 4 Disease_Ontology DOID:0070775 DOID:0070775 gingival fibromatosis 6 Disease_Ontology DOID:0070776 DOID:0070776 impaired intellectual development and distinctive facial features with or without cardiac defects Disease_Ontology DOID:0070777 DOID:0070777 syndromic X-linked intellectual developmental disorder, Snijders Blok type Disease_Ontology DOID:0070778 DOID:0070778 hormone receptor-negative/HER2-positive breast cancer Disease_Ontology DOID:0070779 DOID:0070779 hormone receptor-positive/HER2-positive breast cancer Disease_Ontology DOID:0070780 DOID:0070780 hormone receptor-positive/HER2-negative breast cancer Disease_Ontology DOID:0070781 DOID:0070781 HER2-low breast cancer Disease_Ontology DOID:0070782 DOID:0070782 HER2-ultralow breast cancer Disease_Ontology DOID:0080000 DOID:0080000 muscular disease Disease_Ontology DOID:0080001 DOID:0080001 bone disease Disease_Ontology DOID:0080005 DOID:0080005 bone remodeling disease Disease_Ontology DOID:0080006 DOID:0080006 bone development disease Disease_Ontology DOID:0080007 DOID:0080007 bone deterioration disease Disease_Ontology DOID:0080008 DOID:0080008 ischemic bone disease Disease_Ontology DOID:0080009 DOID:0080009 X-linked dominant disease Disease_Ontology DOID:0080010 DOID:0080010 bone structure disease Disease_Ontology DOID:0080011 DOID:0080011 bone resorption disease Disease_Ontology DOID:0080012 DOID:0080012 X-linked recessive disease Disease_Ontology DOID:0080014 DOID:0080014 chromosomal disease Disease_Ontology DOID:0080015 DOID:0080015 physical disorder Disease_Ontology DOID:0080016 DOID:0080016 spina bifida Disease_Ontology DOID:0080018 DOID:0080018 dysbaric osteonecrosis Disease_Ontology DOID:0080019 DOID:0080019 metaphyseal dysplasia Disease_Ontology DOID:0080020 DOID:0080020 Jansen's metaphyseal chondrodysplasia Disease_Ontology DOID:0080021 DOID:0080021 Schmid metaphyseal chondrodysplasia Disease_Ontology DOID:0080026 DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive Disease_Ontology DOID:0080027 DOID:0080027 spondyloepimetaphyseal dysplasia Disease_Ontology DOID:0080028 DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type Disease_Ontology DOID:0080029 DOID:0080029 autosomal recessive spinocerebellar ataxia 16 Disease_Ontology DOID:0080030 DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type Disease_Ontology DOID:0080031 DOID:0080031 fibrous dysplasia Disease_Ontology DOID:0080032 DOID:0080032 craniodiaphyseal dysplasia Disease_Ontology DOID:0080033 DOID:0080033 craniometaphyseal dysplasia Disease_Ontology DOID:0080036 DOID:0080036 SOST-related sclerosing bone dysplasia Disease_Ontology DOID:0080037 DOID:0080037 Worth syndrome Disease_Ontology DOID:0080038 DOID:0080038 pycnodysostosis Disease_Ontology DOID:0080039 DOID:0080039 axial osteomalacia Disease_Ontology DOID:0080040 DOID:0080040 fibrogenesis imperfecta ossium Disease_Ontology DOID:0080041 DOID:0080041 hypochondroplasia Disease_Ontology DOID:0080042 DOID:0080042 autosomal recessive spinocerebellar ataxia 18 Disease_Ontology DOID:0080043 DOID:0080043 achondrogenesis Disease_Ontology DOID:0080044 DOID:0080044 hypochondrogenesis Disease_Ontology DOID:0080045 DOID:0080045 Kniest dysplasia Disease_Ontology DOID:0080046 DOID:0080046 Stickler syndrome Disease_Ontology DOID:0080047 DOID:0080047 pseudoachondroplasia Disease_Ontology DOID:0080049 DOID:0080049 acromesomelic dysplasia Disease_Ontology DOID:0080050 DOID:0080050 acromesomelic dysplasia, Maroteaux type Disease_Ontology DOID:0080051 DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type Disease_Ontology DOID:0080052 DOID:0080052 acromesomelic dysplasia, Grebe type Disease_Ontology DOID:0080053 DOID:0080053 pseudohypoparathyroidism type 1A Disease_Ontology DOID:0080054 DOID:0080054 achondrogenesis type IA Disease_Ontology DOID:0080055 DOID:0080055 achondrogenesis type IB Disease_Ontology DOID:0080056 DOID:0080056 achondrogenesis type II Disease_Ontology DOID:0080057 DOID:0080057 autosomal recessive spinocerebellar ataxia 15 Disease_Ontology DOID:0080058 DOID:0080058 autosomal recessive spinocerebellar ataxia 14 Disease_Ontology DOID:0080059 DOID:0080059 autosomal recessive spinocerebellar ataxia 7 Disease_Ontology DOID:0080060 DOID:0080060 autosomal recessive spinocerebellar ataxia 12 Disease_Ontology DOID:0080061 DOID:0080061 autosomal recessive spinocerebellar ataxia 2 Disease_Ontology DOID:0080062 DOID:0080062 autosomal recessive spinocerebellar ataxia 13 Disease_Ontology DOID:0080063 DOID:0080063 autosomal recessive spinocerebellar ataxia 11 Disease_Ontology DOID:0080064 DOID:0080064 autosomal recessive spinocerebellar ataxia 17 Disease_Ontology DOID:0080065 DOID:0080065 autosomal recessive spinocerebellar ataxia 19 Disease_Ontology DOID:0080066 DOID:0080066 autosomal recessive spinocerebellar ataxia 20 Disease_Ontology DOID:0080067 DOID:0080067 Charcot-Marie-Tooth disease type 5 Disease_Ontology DOID:0080068 DOID:0080068 Charcot-Marie-Tooth disease type 6 Disease_Ontology DOID:0080069 DOID:0080069 Charcot-Marie-Tooth disease type 7 Disease_Ontology DOID:0080070 DOID:0080070 mucolipidosis II alpha/beta Disease_Ontology DOID:0080071 DOID:0080071 mucolipidosis III alpha/beta Disease_Ontology DOID:0080072 DOID:0080072 intestinal pseudo-obstruction Disease_Ontology DOID:0080073 DOID:0080073 spina bifida occulta Disease_Ontology DOID:0080074 DOID:0080074 neural tube defect Disease_Ontology DOID:0080075 DOID:0080075 Neu-Laxova syndrome 2 Disease_Ontology DOID:0080076 DOID:0080076 Neu-Laxova syndrome 1 Disease_Ontology DOID:0080077 DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 Disease_Ontology DOID:0080078 DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 Disease_Ontology DOID:0080079 DOID:0080079 nonsyndromic congenital nail disorder 1 Disease_Ontology DOID:0080080 DOID:0080080 nonsyndromic congenital nail disorder 2 Disease_Ontology DOID:0080081 DOID:0080081 nonsyndromic congenital nail disorder 3 Disease_Ontology DOID:0080082 DOID:0080082 nonsyndromic congenital nail disorder 4 Disease_Ontology DOID:0080083 DOID:0080083 nonsyndromic congenital nail disorder 5 Disease_Ontology DOID:0080084 DOID:0080084 nonsyndromic congenital nail disorder 6 Disease_Ontology DOID:0080085 DOID:0080085 nonsyndromic congenital nail disorder 7 Disease_Ontology DOID:0080086 DOID:0080086 nonsyndromic congenital nail disorder 8 Disease_Ontology DOID:0080087 DOID:0080087 nonsyndromic congenital nail disorder 9 Disease_Ontology DOID:0080089 DOID:0080089 tubular aggregate myopathy 1 Disease_Ontology DOID:0080090 DOID:0080090 reducing body myopathy 1A Disease_Ontology DOID:0080092 DOID:0080092 myofibrillar myopathy 1 Disease_Ontology DOID:0080093 DOID:0080093 adult-onset myofibrillar myopathy 2A Disease_Ontology DOID:0080094 DOID:0080094 myofibrillar myopathy 3 Disease_Ontology DOID:0080095 DOID:0080095 myofibrillar myopathy 4 Disease_Ontology DOID:0080096 DOID:0080096 myofibrillar myopathy 5 Disease_Ontology DOID:0080097 DOID:0080097 myofibrillar myopathy 6 Disease_Ontology DOID:0080098 DOID:0080098 myofibrillar myopathy 7 Disease_Ontology DOID:0080099 DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia Disease_Ontology DOID:0080101 DOID:0080101 Compton-North congenital myopathy Disease_Ontology DOID:0080102 DOID:0080102 congenital myopathy 4A Disease_Ontology DOID:0080103 DOID:0080103 cylindrical spirals myopathy Disease_Ontology DOID:0080105 DOID:0080105 microcephaly and chorioretinopathy 1 Disease_Ontology DOID:0080106 DOID:0080106 microcephaly and chorioretinopathy 2 Disease_Ontology DOID:0080107 DOID:0080107 microcephaly and chorioretinopathy 3 Disease_Ontology DOID:0080108 DOID:0080108 myoglobinuria Disease_Ontology DOID:0080109 DOID:0080109 infantile myofibromatosis Disease_Ontology DOID:0080110 DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome Disease_Ontology DOID:0080111 DOID:0080111 mitochondrial complex III deficiency nuclear type 1 Disease_Ontology DOID:0080112 DOID:0080112 mitochondrial complex III deficiency nuclear type 3 Disease_Ontology DOID:0080113 DOID:0080113 mitochondrial complex III deficiency nuclear type 4 Disease_Ontology DOID:0080114 DOID:0080114 mitochondrial complex III deficiency nuclear type 5 Disease_Ontology DOID:0080115 DOID:0080115 mitochondrial complex III deficiency nuclear type 6 Disease_Ontology DOID:0080116 DOID:0080116 mitochondrial complex III deficiency nuclear type 7 Disease_Ontology DOID:0080117 DOID:0080117 mitochondrial complex III deficiency nuclear type 8 Disease_Ontology DOID:0080118 DOID:0080118 mitochondrial complex III deficiency nuclear type 9 Disease_Ontology DOID:0080119 DOID:0080119 mitochondrial DNA depletion syndrome 1 Disease_Ontology DOID:0080120 DOID:0080120 mitochondrial DNA depletion syndrome 2 Disease_Ontology DOID:0080121 DOID:0080121 mitochondrial DNA depletion syndrome 3 Disease_Ontology DOID:0080122 DOID:0080122 Alpers-Huttenlocher syndrome Disease_Ontology DOID:0080123 DOID:0080123 mitochondrial DNA depletion syndrome 4b Disease_Ontology DOID:0080124 DOID:0080124 mitochondrial DNA depletion syndrome 5 Disease_Ontology DOID:0080125 DOID:0080125 mitochondrial DNA depletion syndrome 6 Disease_Ontology DOID:0080126 DOID:0080126 mitochondrial DNA depletion syndrome 7 Disease_Ontology DOID:0080127 DOID:0080127 mitochondrial DNA depletion syndrome 8a Disease_Ontology DOID:0080128 DOID:0080128 mitochondrial DNA depletion syndrome 9 Disease_Ontology DOID:0080129 DOID:0080129 mitochondrial DNA depletion syndrome 11 Disease_Ontology DOID:0080130 DOID:0080130 mitochondrial DNA depletion syndrome 12a Disease_Ontology DOID:0080131 DOID:0080131 mitochondrial DNA depletion syndrome 13 Disease_Ontology DOID:0080132 DOID:0080132 Sengers syndrome Disease_Ontology DOID:0080133 DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 Disease_Ontology DOID:0080134 DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 Disease_Ontology DOID:0080135 DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 Disease_Ontology DOID:0080136 DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 Disease_Ontology DOID:0080137 DOID:0080137 multiple endocrine neoplasia type 4 Disease_Ontology DOID:0080138 DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 Disease_Ontology DOID:0080139 DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 Disease_Ontology DOID:0080140 DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 Disease_Ontology DOID:0080141 DOID:0080141 mosaic variegated aneuploidy syndrome 1 Disease_Ontology DOID:0080142 DOID:0080142 mosaic variegated aneuploidy syndrome 2 Disease_Ontology DOID:0080143 DOID:0080143 congenital fibrosis of the extraocular muscles Disease_Ontology DOID:0080144 DOID:0080144 childhood acute lymphocytic leukemia Disease_Ontology DOID:0080145 DOID:0080145 childhood T-cell acute lymphoblastic leukemia Disease_Ontology DOID:0080146 DOID:0080146 childhood B-cell acute lymphoblastic leukemia Disease_Ontology DOID:0080147 DOID:0080147 lymphoblastic lymphoma Disease_Ontology DOID:0080148 DOID:0080148 T-cell childhood lymphoblastic lymphoma Disease_Ontology DOID:0080149 DOID:0080149 adult acute monocytic leukemia Disease_Ontology DOID:0080150 DOID:0080150 adrenocorticotropic hormone deficiency Disease_Ontology DOID:0080153 DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency Disease_Ontology DOID:0080154 DOID:0080154 short chain acyl-CoA dehydrogenase deficiency Disease_Ontology DOID:0080155 DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency Disease_Ontology DOID:0080156 DOID:0080156 X-linked adrenal hypoplasia congenita Disease_Ontology DOID:0080158 DOID:0080158 herpes simplex virus keratitis Disease_Ontology DOID:0080159 DOID:0080159 Cryptococcal meningitis Disease_Ontology DOID:0080160 DOID:0080160 Cytomegalovirus retinitis Disease_Ontology DOID:0080161 DOID:0080161 cutaneous candidiasis Disease_Ontology DOID:0080162 DOID:0080162 lupus nephritis Disease_Ontology DOID:0080163 DOID:0080163 autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome Disease_Ontology DOID:0080164 DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Disease_Ontology DOID:0080165 DOID:0080165 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement Disease_Ontology DOID:0080166 DOID:0080166 myeloid and lymphoid neoplasms associated with PDGFRB rearrangement Disease_Ontology DOID:0080167 DOID:0080167 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities Disease_Ontology DOID:0080169 DOID:0080169 tricuspid atresia Disease_Ontology DOID:0080170 DOID:0080170 normophosphatemic familial tumoral calcinosis Disease_Ontology DOID:0080171 DOID:0080171 esophageal atresia/tracheoesophageal fistula Disease_Ontology DOID:0080172 DOID:0080172 poor metabolism of thiopurines Disease_Ontology DOID:0080173 DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex Disease_Ontology DOID:0080174 DOID:0080174 bladder exstrophy Disease_Ontology DOID:0080175 DOID:0080175 cloacal exstrophy Disease_Ontology DOID:0080176 DOID:0080176 meningococcal meningitis Disease_Ontology DOID:0080177 DOID:0080177 hepatic veno-occlusive disease Disease_Ontology DOID:0080178 DOID:0080178 mucositis Disease_Ontology DOID:0080179 DOID:0080179 haemophilus meningitis Disease_Ontology DOID:0080180 DOID:0080180 Zika virus congenital syndrome Disease_Ontology DOID:0080181 DOID:0080181 PHARC syndrome Disease_Ontology DOID:0080182 DOID:0080182 mixed fibrolamellar hepatocellular carcinoma Disease_Ontology DOID:0080183 DOID:0080183 medullary colon carcinoma Disease_Ontology DOID:0080184 DOID:0080184 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma Disease_Ontology DOID:0080185 DOID:0080185 mucinous bronchioloalveolar adenocarcinoma Disease_Ontology DOID:0080186 DOID:0080186 nonmucinous bronchioloalveolar adenocarcinoma Disease_Ontology DOID:0080187 DOID:0080187 chronic neutrophilic leukemia Disease_Ontology DOID:0080188 DOID:0080188 chronic myelomonocytic leukemia Disease_Ontology DOID:0080189 DOID:0080189 malignant hemangioma Disease_Ontology DOID:0080190 DOID:0080190 malignant epithelioid hemangioendothelioma Disease_Ontology DOID:0080192 DOID:0080192 relapsed/refractory diffuse large B-cell lymphoma Disease_Ontology DOID:0080193 DOID:0080193 superior semicircular canal dehiscence Disease_Ontology DOID:0080194 DOID:0080194 Carey-Fineman-Ziter syndrome Disease_Ontology DOID:0080195 DOID:0080195 Marinesco-Sjogren syndrome Disease_Ontology DOID:0080196 DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type Disease_Ontology DOID:0080197 DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability Disease_Ontology DOID:0080198 DOID:0080198 infantile histiocytoid cardiomyopathy Disease_Ontology DOID:0080199 DOID:0080199 colorectal carcinoma Disease_Ontology DOID:0080200 DOID:0080200 bilateral renal aplasia Disease_Ontology DOID:0080201 DOID:0080201 Peters plus syndrome Disease_Ontology DOID:0080202 DOID:0080202 adenoid cystic carcinoma Disease_Ontology DOID:0080204 DOID:0080204 renal hypoplasia Disease_Ontology DOID:0080205 DOID:0080205 congenital anomalies of the kidney and urinary tract Disease_Ontology DOID:0080206 DOID:0080206 congenital anomalies of the kidney and urinary tract 1 Disease_Ontology DOID:0080207 DOID:0080207 congenital anomalies of the kidney and urinary tract 2 Disease_Ontology DOID:0080208 DOID:0080208 metabolic dysfunction-associated steatotic liver disease Disease_Ontology DOID:0080209 DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Disease_Ontology DOID:0080210 DOID:0080210 primary mediastinal B-cell lymphoma Disease_Ontology DOID:0080211 DOID:0080211 nodal marginal zone lymphoma Disease_Ontology DOID:0080212 DOID:0080212 polycystic kidney disease 4 Disease_Ontology DOID:0080213 DOID:0080213 punctate palmoplantar keratoderma type II Disease_Ontology DOID:0080214 DOID:0080214 punctate palmoplantar keratoderma type I Disease_Ontology DOID:0080215 DOID:0080215 developmental and epileptic encephalopathy 8 Disease_Ontology DOID:0080216 DOID:0080216 duodenal atresia Disease_Ontology DOID:0080217 DOID:0080217 lysosomal acid lipase deficiency Disease_Ontology DOID:0080218 DOID:0080218 primary spontaneous pneumothorax Disease_Ontology DOID:0080219 DOID:0080219 dystransthyretinemic hyperthyroxinemia Disease_Ontology DOID:0080222 DOID:0080222 pseudohypoparathyroidism type 1B Disease_Ontology DOID:0080223 DOID:0080223 epidermolytic palmoplantar keratoderma Disease_Ontology DOID:0080224 DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa Disease_Ontology DOID:0080225 DOID:0080225 amyotrophic lateral sclerosis type 23 Disease_Ontology DOID:0080226 DOID:0080226 autosomal dominant intellectual developmental disorder 56 Disease_Ontology DOID:0080227 DOID:0080227 autosomal dominant intellectual developmental disorder 55 Disease_Ontology DOID:0080228 DOID:0080228 autosomal dominant intellectual developmental disorder 53 Disease_Ontology DOID:0080230 DOID:0080230 autosomal dominant intellectual developmental disorder 54 Disease_Ontology DOID:0080231 DOID:0080231 autosomal dominant intellectual developmental disorder 52 Disease_Ontology DOID:0080232 DOID:0080232 autosomal dominant intellectual developmental disorder 51 Disease_Ontology DOID:0080233 DOID:0080233 autosomal dominant intellectual developmental disorder 50 Disease_Ontology DOID:0080234 DOID:0080234 Clark-Baraitser syndrome Disease_Ontology DOID:0080235 DOID:0080235 autosomal dominant intellectual developmental disorder 48 Disease_Ontology DOID:0080236 DOID:0080236 autosomal dominant intellectual developmental disorder 45 Disease_Ontology DOID:0080237 DOID:0080237 autosomal dominant intellectual developmental disorder 46 Disease_Ontology DOID:0080238 DOID:0080238 autosomal dominant intellectual developmental disorder 47 Disease_Ontology DOID:0080239 DOID:0080239 autosomal recessive intellectual developmental disorder 61 Disease_Ontology DOID:0080240 DOID:0080240 non-syndromic X-linked intellectual disability 106 Disease_Ontology DOID:0080241 DOID:0080241 syndromic X-linked mental retardation 35 Disease_Ontology DOID:0080242 DOID:0080242 syndromic X-linked mental retardation Hough type Disease_Ontology DOID:0080243 DOID:0080243 amelogenesis imperfecta type 3B Disease_Ontology DOID:0080244 DOID:0080244 Galloway-Mowat syndrome 2 Disease_Ontology DOID:0080245 DOID:0080245 Galloway-Mowat syndrome 3 Disease_Ontology DOID:0080246 DOID:0080246 Galloway-Mowat syndrome 4 Disease_Ontology DOID:0080247 DOID:0080247 Galloway-Mowat syndrome 5 Disease_Ontology DOID:0080248 DOID:0080248 erythrokeratodermia variabilis et progressiva 2 Disease_Ontology DOID:0080249 DOID:0080249 erythrokeratodermia variabilis et progressiva 3 Disease_Ontology DOID:0080250 DOID:0080250 erythrokeratodermia variabilis et progressiva 4 Disease_Ontology DOID:0080251 DOID:0080251 erythrokeratodermia variabilis et progressiva 5 Disease_Ontology DOID:0080252 DOID:0080252 spastic ataxia 8 Disease_Ontology DOID:0080253 DOID:0080253 Meckel syndrome 13 Disease_Ontology DOID:0080254 DOID:0080254 orofaciodigital syndrome XVI Disease_Ontology DOID:0080255 DOID:0080255 Meier-Gorlin syndrome 8 Disease_Ontology DOID:0080256 DOID:0080256 Perrault syndrome 6 Disease_Ontology DOID:0080257 DOID:0080257 autosomal recessive congenital ichthyosis 13 Disease_Ontology DOID:0080258 DOID:0080258 autosomal recessive congenital ichthyosis 14 Disease_Ontology DOID:0080259 DOID:0080259 autosomal recessive spinocerebellar ataxia 25 Disease_Ontology DOID:0080260 DOID:0080260 autosomal recessive spinocerebellar ataxia 26 Disease_Ontology DOID:0080261 DOID:0080261 autosomal recessive nonsyndromic deafness 106 Disease_Ontology DOID:0080262 DOID:0080262 autosomal recessive nonsyndromic deafness 107 Disease_Ontology DOID:0080263 DOID:0080263 autosomal recessive nonsyndromic deafness 108 Disease_Ontology DOID:0080264 DOID:0080264 exudative vitreoretinopathy 7 Disease_Ontology DOID:0080265 DOID:0080265 RENI syndrome Disease_Ontology DOID:0080266 DOID:0080266 primary ciliary dyskinesia 37 Disease_Ontology DOID:0080267 DOID:0080267 autosomal dominant nonsyndromic deafness 71 Disease_Ontology DOID:0080268 DOID:0080268 autosomal dominant nonsyndromic deafness 72 Disease_Ontology DOID:0080269 DOID:0080269 autosomal dominant nonsyndromic deafness 73 Disease_Ontology DOID:0080270 DOID:0080270 autosomal dominant nonsyndromic deafness 34 Disease_Ontology DOID:0080271 DOID:0080271 nephrotic syndrome type 15 Disease_Ontology DOID:0080272 DOID:0080272 nephrotic syndrome type 16 Disease_Ontology DOID:0080273 DOID:0080273 polycystic kidney disease 5 Disease_Ontology DOID:0080274 DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 Disease_Ontology DOID:0080275 DOID:0080275 Joubert syndrome 30 Disease_Ontology DOID:0080276 DOID:0080276 Joubert syndrome 29 Disease_Ontology DOID:0080277 DOID:0080277 Joubert syndrome 31 Disease_Ontology DOID:0080278 DOID:0080278 Joubert syndrome 32 Disease_Ontology DOID:0080279 DOID:0080279 Joubert syndrome 33 Disease_Ontology DOID:0080280 DOID:0080280 gingival fibromatosis 5 Disease_Ontology DOID:0080281 DOID:0080281 schizophrenia 19 Disease_Ontology DOID:0080282 DOID:0080282 developmental and epileptic encephalopathy 56 Disease_Ontology DOID:0080283 DOID:0080283 developmental and epileptic encephalopathy 55 Disease_Ontology DOID:0080284 DOID:0080284 developmental and epileptic encephalopathy 57 Disease_Ontology DOID:0080285 DOID:0080285 developmental and epileptic encephalopathy 58 Disease_Ontology DOID:0080286 DOID:0080286 spinocerebellar ataxia 44 Disease_Ontology DOID:0080287 DOID:0080287 spinocerebellar ataxia 45 Disease_Ontology DOID:0080288 DOID:0080288 spinocerebellar ataxia 46 Disease_Ontology DOID:0080289 DOID:0080289 orofaciodigital syndrome XVII Disease_Ontology DOID:0080290 DOID:0080290 familial erythrocytosis 5 Disease_Ontology DOID:0080291 DOID:0080291 developmental and epileptic encephalopathy 59 Disease_Ontology DOID:0080292 DOID:0080292 retinitis pigmentosa 81 Disease_Ontology DOID:0080293 DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly Disease_Ontology DOID:0080294 DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G Disease_Ontology DOID:0080295 DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly Disease_Ontology DOID:0080296 DOID:0080296 hypomyelinating leukodystrophy 14 Disease_Ontology DOID:0080297 DOID:0080297 Coffin-Siris syndrome 6 Disease_Ontology DOID:0080298 DOID:0080298 complete generalized lipodystrophy Disease_Ontology DOID:0080299 DOID:0080299 partial lipodystrophy Disease_Ontology DOID:0080300 DOID:0080300 acquired generalized lipodystrophy Disease_Ontology DOID:0080301 DOID:0080301 atypical hemolytic-uremic syndrome Disease_Ontology DOID:0080302 DOID:0080302 mixed sleep apnea Disease_Ontology DOID:0080303 DOID:0080303 mucinous lung adenocarcinoma Disease_Ontology DOID:0080304 DOID:0080304 lung mucinous cystadenocarcinoma Disease_Ontology DOID:0080305 DOID:0080305 signet ring lung adenocarcinoma Disease_Ontology DOID:0080306 DOID:0080306 solid adenocarcinoma with mucin production Disease_Ontology DOID:0080307 DOID:0080307 myofibrillar myopathy Disease_Ontology DOID:0080308 DOID:0080308 myofibrillar myopathy 8 Disease_Ontology DOID:0080309 DOID:0080309 infantile-onset myofibrillar myopathy-2B Disease_Ontology DOID:0080311 DOID:0080311 Billuart-type X-linked syndromic intellectual developmental disorder Disease_Ontology DOID:0080312 DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations Disease_Ontology DOID:0080313 DOID:0080313 cleft palate-lateral synechia syndrome Disease_Ontology DOID:0080314 DOID:0080314 cone-rod dystrophy 14 Disease_Ontology DOID:0080315 DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts Disease_Ontology DOID:0080316 DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 Disease_Ontology DOID:0080317 DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B Disease_Ontology DOID:0080318 DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A Disease_Ontology DOID:0080319 DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Disease_Ontology DOID:0080320 DOID:0080320 peripheral nervous system benign neoplasm Disease_Ontology DOID:0080321 DOID:0080321 autonomic nervous system benign neoplasm Disease_Ontology DOID:0080322 DOID:0080322 polycystic kidney disease Disease_Ontology DOID:0080323 DOID:0080323 pancreatic squamous cell carcinoma Disease_Ontology DOID:0080324 DOID:0080324 tuberous sclerosis 1 Disease_Ontology DOID:0080325 DOID:0080325 tuberous sclerosis 2 Disease_Ontology DOID:0080326 DOID:0080326 familial hypertrophic cardiomyopathy Disease_Ontology DOID:0080327 DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly Disease_Ontology DOID:0080328 DOID:0080328 Culler-Jones syndrome Disease_Ontology DOID:0080329 DOID:0080329 cold-induced sweating syndrome 1 Disease_Ontology DOID:0080330 DOID:0080330 cold-induced sweating syndrome 2 Disease_Ontology DOID:0080331 DOID:0080331 cold-induced sweating syndrome 3 Disease_Ontology DOID:0080332 DOID:0080332 bicuspid aortic valve disease Disease_Ontology DOID:0080333 DOID:0080333 aortic valve disease 1 Disease_Ontology DOID:0080334 DOID:0080334 aortic valve disease 2 Disease_Ontology DOID:0080335 DOID:0080335 mitochondrial DNA depletion syndrome 12b Disease_Ontology DOID:0080336 DOID:0080336 mitochondrial DNA depletion syndrome 14 Disease_Ontology DOID:0080337 DOID:0080337 mitochondrial DNA depletion syndrome 15 Disease_Ontology DOID:0080338 DOID:0080338 familial erythrocytosis 3 Disease_Ontology DOID:0080339 DOID:0080339 familial erythrocytosis 4 Disease_Ontology DOID:0080342 DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 Disease_Ontology DOID:0080343 DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 Disease_Ontology DOID:0080344 DOID:0080344 blepharocheilodontic syndrome Disease_Ontology DOID:0080345 DOID:0080345 blepharocheilodontic syndrome 1 Disease_Ontology DOID:0080346 DOID:0080346 blepharocheilodontic syndrome 2 Disease_Ontology DOID:0080347 DOID:0080347 malignant pheochromocytoma Disease_Ontology DOID:0080348 DOID:0080348 Alzheimer's disease 1 Disease_Ontology DOID:0080349 DOID:0080349 developmental and epileptic encephalopathy 39 Disease_Ontology DOID:0080350 DOID:0080350 retinitis pigmentosa 77 Disease_Ontology DOID:0080351 DOID:0080351 CLOVES syndrome Disease_Ontology DOID:0080352 DOID:0080352 X-linked chondrodysplasia punctata 2 Disease_Ontology DOID:0080353 DOID:0080353 X-linked recessive hypophosphatemic rickets Disease_Ontology DOID:0080354 DOID:0080354 Phelan-McDermid syndrome Disease_Ontology DOID:0080355 DOID:0080355 hepatobiliary system cancer Disease_Ontology DOID:0080356 DOID:0080356 IgG4-related disease Disease_Ontology DOID:0080357 DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 Disease_Ontology DOID:0080358 DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 Disease_Ontology DOID:0080359 DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 Disease_Ontology DOID:0080360 DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 Disease_Ontology DOID:0080361 DOID:0080361 trimethylaminuria Disease_Ontology DOID:0080362 DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda Disease_Ontology DOID:0080363 DOID:0080363 mitochondrial pyruvate carrier deficiency Disease_Ontology DOID:0080364 DOID:0080364 malignant adenoma Disease_Ontology DOID:0080365 DOID:0080365 endometrial hyperplasia Disease_Ontology DOID:0080366 DOID:0080366 desmoid tumor Disease_Ontology DOID:0080367 DOID:0080367 chronic eosinophilic leukemia Disease_Ontology DOID:0080368 DOID:0080368 sex cord-stromal benign neoplasm Disease_Ontology DOID:0080369 DOID:0080369 ovarian sex-cord stromal tumor Disease_Ontology DOID:0080370 DOID:0080370 ovarian sex cord-stromal benign neoplasm Disease_Ontology DOID:0080371 DOID:0080371 testicular sex cord-stromal benign neoplasm Disease_Ontology DOID:0080372 DOID:0080372 epithelioid inflammatory myofibroblastic sarcoma Disease_Ontology DOID:0080373 DOID:0080373 epididymis disease Disease_Ontology DOID:0080374 DOID:0080374 gastroesophageal cancer Disease_Ontology DOID:0080375 DOID:0080375 gastroesophageal adenocarcinoma Disease_Ontology DOID:0080376 DOID:0080376 trichorhinophalangeal syndrome type III Disease_Ontology DOID:0080377 DOID:0080377 peroxisomal biogenesis disorder Disease_Ontology DOID:0080379 DOID:0080379 nephrotic syndrome type 2 Disease_Ontology DOID:0080380 DOID:0080380 nephrotic syndrome type 5 Disease_Ontology DOID:0080381 DOID:0080381 nephrotic syndrome type 13 Disease_Ontology DOID:0080382 DOID:0080382 nephrotic syndrome type 3 Disease_Ontology DOID:0080383 DOID:0080383 nephrotic syndrome type 4 Disease_Ontology DOID:0080384 DOID:0080384 nephrotic syndrome type 6 Disease_Ontology DOID:0080385 DOID:0080385 nephrotic syndrome type 11 Disease_Ontology DOID:0080386 DOID:0080386 nephrotic syndrome type 10 Disease_Ontology DOID:0080387 DOID:0080387 nephrotic syndrome type 12 Disease_Ontology DOID:0080388 DOID:0080388 nephrotic syndrome type 7 Disease_Ontology DOID:0080389 DOID:0080389 nephrotic syndrome type 8 Disease_Ontology DOID:0080390 DOID:0080390 nephrotic syndrome type 1 Disease_Ontology DOID:0080391 DOID:0080391 nephrotic syndrome type 9 Disease_Ontology DOID:0080392 DOID:0080392 nephrotic syndrome type 17 Disease_Ontology DOID:0080393 DOID:0080393 nephrotic syndrome type 18 Disease_Ontology DOID:0080394 DOID:0080394 nephrotic syndrome type 19 Disease_Ontology DOID:0080395 DOID:0080395 orofacial cleft 1 Disease_Ontology DOID:0080396 DOID:0080396 orofacial cleft 2 Disease_Ontology DOID:0080397 DOID:0080397 orofacial cleft 3 Disease_Ontology DOID:0080398 DOID:0080398 orofacial cleft 4 Disease_Ontology DOID:0080399 DOID:0080399 orofacial cleft 5 Disease_Ontology DOID:0080400 DOID:0080400 orofacial cleft 7 Disease_Ontology DOID:0080401 DOID:0080401 orofacial cleft 8 Disease_Ontology DOID:0080402 DOID:0080402 orofacial cleft 9 Disease_Ontology DOID:0080403 DOID:0080403 orofacial cleft 10 Disease_Ontology DOID:0080404 DOID:0080404 orofacial cleft 11 Disease_Ontology DOID:0080405 DOID:0080405 orofacial cleft 12 Disease_Ontology DOID:0080406 DOID:0080406 orofacial cleft 13 Disease_Ontology DOID:0080407 DOID:0080407 orofacial cleft 14 Disease_Ontology DOID:0080408 DOID:0080408 orofacial cleft 15 Disease_Ontology DOID:0080409 DOID:0080409 familial adenomatous polyposis 1 Disease_Ontology DOID:0080410 DOID:0080410 familial adenomatous polyposis 2 Disease_Ontology DOID:0080411 DOID:0080411 familial adenomatous polyposis 3 Disease_Ontology DOID:0080412 DOID:0080412 familial adenomatous polyposis 4 Disease_Ontology DOID:0080413 DOID:0080413 developmental and epileptic encephalopathy 18 Disease_Ontology DOID:0080414 DOID:0080414 developmental and epileptic encephalopathy 15 Disease_Ontology DOID:0080415 DOID:0080415 developmental and epileptic encephalopathy 23 Disease_Ontology DOID:0080416 DOID:0080416 developmental and epileptic encephalopathy 32 Disease_Ontology DOID:0080417 DOID:0080417 developmental and epileptic encephalopathy 38 Disease_Ontology DOID:0080418 DOID:0080418 developmental and epileptic encephalopathy 54 Disease_Ontology DOID:0080419 DOID:0080419 developmental and epileptic encephalopathy 50 Disease_Ontology DOID:0080420 DOID:0080420 developmental and epileptic encephalopathy 62 Disease_Ontology DOID:0080421 DOID:0080421 developmental and epileptic encephalopathy 11 Disease_Ontology DOID:0080422 DOID:0080422 Dravet syndrome Disease_Ontology DOID:0080424 DOID:0080424 developmental and epileptic encephalopathy 44 Disease_Ontology DOID:0080425 DOID:0080425 developmental and epileptic encephalopathy 47 Disease_Ontology DOID:0080426 DOID:0080426 developmental and epileptic encephalopathy 63 Disease_Ontology DOID:0080427 DOID:0080427 developmental and epileptic encephalopathy 40 Disease_Ontology DOID:0080428 DOID:0080428 developmental and epileptic encephalopathy 45 Disease_Ontology DOID:0080429 DOID:0080429 developmental and epileptic encephalopathy 24 Disease_Ontology DOID:0080430 DOID:0080430 developmental and epileptic encephalopathy 65 Disease_Ontology DOID:0080431 DOID:0080431 developmental and epileptic encephalopathy 19 Disease_Ontology DOID:0080432 DOID:0080432 developmental and epileptic encephalopathy 60 Disease_Ontology DOID:0080433 DOID:0080433 developmental and epileptic encephalopathy 51 Disease_Ontology DOID:0080434 DOID:0080434 developmental and epileptic encephalopathy 61 Disease_Ontology DOID:0080435 DOID:0080435 developmental and epileptic encephalopathy 37 Disease_Ontology DOID:0080436 DOID:0080436 developmental and epileptic encephalopathy 4 Disease_Ontology DOID:0080437 DOID:0080437 developmental and epileptic encephalopathy 31A Disease_Ontology DOID:0080438 DOID:0080438 developmental and epileptic encephalopathy 5 Disease_Ontology DOID:0080439 DOID:0080439 developmental and epileptic encephalopathy 14 Disease_Ontology DOID:0080440 DOID:0080440 developmental and epileptic encephalopathy 3 Disease_Ontology DOID:0080441 DOID:0080441 developmental and epileptic encephalopathy 49 Disease_Ontology DOID:0080442 DOID:0080442 developmental and epileptic encephalopathy 41 Disease_Ontology DOID:0080443 DOID:0080443 developmental and epileptic encephalopathy 21 Disease_Ontology DOID:0080444 DOID:0080444 developmental and epileptic encephalopathy 27 Disease_Ontology DOID:0080445 DOID:0080445 developmental and epileptic encephalopathy 13 Disease_Ontology DOID:0080446 DOID:0080446 developmental and epileptic encephalopathy 66 Disease_Ontology DOID:0080447 DOID:0080447 developmental and epileptic encephalopathy 43 Disease_Ontology DOID:0080448 DOID:0080448 developmental and epileptic encephalopathy 48 Disease_Ontology DOID:0080449 DOID:0080449 developmental and epileptic encephalopathy 16 Disease_Ontology DOID:0080450 DOID:0080450 developmental and epileptic encephalopathy 17 Disease_Ontology DOID:0080451 DOID:0080451 developmental and epileptic encephalopathy 29 Disease_Ontology DOID:0080452 DOID:0080452 developmental and epileptic encephalopathy 28 Disease_Ontology DOID:0080453 DOID:0080453 developmental and epileptic encephalopathy 25 Disease_Ontology DOID:0080454 DOID:0080454 developmental and epileptic encephalopathy 42 Disease_Ontology DOID:0080455 DOID:0080455 developmental and epileptic encephalopathy 52 Disease_Ontology DOID:0080456 DOID:0080456 developmental and epileptic encephalopathy 46 Disease_Ontology DOID:0080457 DOID:0080457 microcephaly, seizures, and developmental delay Disease_Ontology DOID:0080458 DOID:0080458 developmental and epileptic encephalopathy 35 Disease_Ontology DOID:0080459 DOID:0080459 developmental and epileptic encephalopathy 12 Disease_Ontology DOID:0080460 DOID:0080460 developmental and epileptic encephalopathy 34 Disease_Ontology DOID:0080461 DOID:0080461 developmental and epileptic encephalopathy 26 Disease_Ontology DOID:0080462 DOID:0080462 developmental and epileptic encephalopathy 7 Disease_Ontology DOID:0080463 DOID:0080463 developmental and epileptic encephalopathy 33 Disease_Ontology DOID:0080464 DOID:0080464 developmental and epileptic encephalopathy 53 Disease_Ontology DOID:0080465 DOID:0080465 developmental and epileptic encephalopathy 30 Disease_Ontology DOID:0080467 DOID:0080467 developmental and epileptic encephalopathy 2 Disease_Ontology DOID:0080468 DOID:0080468 developmental and epileptic encephalopathy 1 Disease_Ontology DOID:0080470 DOID:0080470 developmental and epileptic encephalopathy 36 Disease_Ontology DOID:0080471 DOID:0080471 developmental and epileptic encephalopathy 92 Disease_Ontology DOID:0080472 DOID:0080472 developmental and epileptic encephalopathy 91 Disease_Ontology DOID:0080473 DOID:0080473 developmental delay and seizures with or without movement abnormalities Disease_Ontology DOID:0080474 DOID:0080474 pustular psoriasis 14 Disease_Ontology DOID:0080475 DOID:0080475 psoriasis 2 Disease_Ontology DOID:0080476 DOID:0080476 peroxisome biogenesis disorder 1A Disease_Ontology DOID:0080477 DOID:0080477 peroxisome biogenesis disorder 2A Disease_Ontology DOID:0080478 DOID:0080478 peroxisome biogenesis disorder 3A Disease_Ontology DOID:0080479 DOID:0080479 peroxisome biogenesis disorder 4A Disease_Ontology DOID:0080480 DOID:0080480 peroxisome biogenesis disorder 5A Disease_Ontology DOID:0080481 DOID:0080481 peroxisome biogenesis disorder 6A Disease_Ontology DOID:0080482 DOID:0080482 peroxisome biogenesis disorder 7A Disease_Ontology DOID:0080483 DOID:0080483 peroxisome biogenesis disorder 8A Disease_Ontology DOID:0080484 DOID:0080484 peroxisome biogenesis disorder 10A Disease_Ontology DOID:0080485 DOID:0080485 peroxisome biogenesis disorder 11A Disease_Ontology DOID:0080486 DOID:0080486 peroxisome biogenesis disorder 12A Disease_Ontology DOID:0080487 DOID:0080487 peroxisome biogenesis disorder 13A Disease_Ontology DOID:0080488 DOID:0080488 mucolipidosis Disease_Ontology DOID:0080489 DOID:0080489 GM1 gangliosidosis type 3 Disease_Ontology DOID:0080490 DOID:0080490 mucolipidosis type IV Disease_Ontology DOID:0080491 DOID:0080491 cerebral cavernous malformation 1 Disease_Ontology DOID:0080492 DOID:0080492 leukocyte adhesion deficiency 2 Disease_Ontology DOID:0080493 DOID:0080493 ovarian dysgenesis 1 Disease_Ontology DOID:0080494 DOID:0080494 ovarian dysgenesis 2 Disease_Ontology DOID:0080495 DOID:0080495 ovarian dysgenesis 3 Disease_Ontology DOID:0080496 DOID:0080496 ovarian dysgenesis 4 Disease_Ontology DOID:0080497 DOID:0080497 ovarian dysgenesis 5 Disease_Ontology DOID:0080498 DOID:0080498 ovarian dysgenesis 6 Disease_Ontology DOID:0080499 DOID:0080499 ovarian dysgenesis 7 Disease_Ontology DOID:0080500 DOID:0080500 ovarian dysgenesis 8 Disease_Ontology DOID:0080501 DOID:0080501 GM1 gangliosidosis type 2 Disease_Ontology DOID:0080502 DOID:0080502 GM1 gangliosidosis type 1 Disease_Ontology DOID:0080503 DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome Disease_Ontology DOID:0080504 DOID:0080504 Parkinson's disease 22 Disease_Ontology DOID:0080505 DOID:0080505 Cornelia de Lange syndrome 1 Disease_Ontology DOID:0080506 DOID:0080506 Cornelia de Lange syndrome 2 Disease_Ontology DOID:0080507 DOID:0080507 Cornelia de Lange syndrome 3 Disease_Ontology DOID:0080508 DOID:0080508 Cornelia de Lange syndrome 4 Disease_Ontology DOID:0080509 DOID:0080509 Cornelia de Lange syndrome 5 Disease_Ontology DOID:0080510 DOID:0080510 epidermolysis bullosa simplex 1C Disease_Ontology DOID:0080511 DOID:0080511 generalized intermediate epidermolysis bullosa simplex 1B Disease_Ontology DOID:0080512 DOID:0080512 Meier-Gorlin syndrome 1 Disease_Ontology DOID:0080513 DOID:0080513 Meier-Gorlin syndrome 2 Disease_Ontology DOID:0080514 DOID:0080514 Meier-Gorlin syndrome 3 Disease_Ontology DOID:0080515 DOID:0080515 Meier-Gorlin syndrome 4 Disease_Ontology DOID:0080516 DOID:0080516 Meier-Gorlin syndrome 5 Disease_Ontology DOID:0080517 DOID:0080517 Meier-Gorlin syndrome 6 Disease_Ontology DOID:0080518 DOID:0080518 Meier-Gorlin syndrome 7 Disease_Ontology DOID:0080519 DOID:0080519 PAPA syndrome Disease_Ontology DOID:0080520 DOID:0080520 Tn polyagglutination syndrome Disease_Ontology DOID:0080521 DOID:0080521 lung non-squamous non-small cell carcinoma Disease_Ontology DOID:0080522 DOID:0080522 anaplastic thyroid carcinoma Disease_Ontology DOID:0080523 DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Disease_Ontology DOID:0080524 DOID:0080524 thyroid gland adenocarcinoma Disease_Ontology DOID:0080525 DOID:0080525 differentiated high-grade thyroid carcinoma Disease_Ontology DOID:0080526 DOID:0080526 bronchiectasis 1 Disease_Ontology DOID:0080527 DOID:0080527 bronchiectasis 2 Disease_Ontology DOID:0080528 DOID:0080528 bronchiectasis 3 Disease_Ontology DOID:0080530 DOID:0080530 granular corneal dystrophy 1 Disease_Ontology DOID:0080531 DOID:0080531 dedifferentiated liposarcoma Disease_Ontology DOID:0080532 DOID:0080532 Smarca4-deficient sarcoma of thorax Disease_Ontology DOID:0080533 DOID:0080533 Carney-Stratakis syndrome Disease_Ontology DOID:0080534 DOID:0080534 myxofibrosarcoma Disease_Ontology DOID:0080535 DOID:0080535 hypermanganesemia with dystonia Disease_Ontology DOID:0080536 DOID:0080536 hypermanganesemia with dystonia 1 Disease_Ontology DOID:0080537 DOID:0080537 hypermanganesemia with dystonia 2 Disease_Ontology DOID:0080538 DOID:0080538 Sweeney-Cox syndrome Disease_Ontology DOID:0080539 DOID:0080539 PEHO syndrome Disease_Ontology DOID:0080540 DOID:0080540 galactosialidosis Disease_Ontology DOID:0080541 DOID:0080541 hyperprolinemia Disease_Ontology DOID:0080542 DOID:0080542 hyperprolinemia type 1 Disease_Ontology DOID:0080543 DOID:0080543 hyperprolinemia type 2 Disease_Ontology DOID:0080544 DOID:0080544 hyper IgM syndrome Disease_Ontology DOID:0080545 DOID:0080545 hyper IgE syndrome Disease_Ontology DOID:0080547 DOID:0080547 metabolic dysfunction-associated steatohepatitis Disease_Ontology DOID:0080548 DOID:0080548 Noonan syndrome with multiple lentigines 1 Disease_Ontology DOID:0080549 DOID:0080549 Noonan syndrome with multiple lentigines 2 Disease_Ontology DOID:0080550 DOID:0080550 Noonan syndrome with multiple lentigines 3 Disease_Ontology DOID:0080551 DOID:0080551 Naxos disease Disease_Ontology DOID:0080552 DOID:0080552 congenital disorder of glycosylation Ia Disease_Ontology DOID:0080553 DOID:0080553 congenital disorder of glycosylation Iaa Disease_Ontology DOID:0080554 DOID:0080554 congenital disorder of glycosylation Ib Disease_Ontology DOID:0080555 DOID:0080555 congenital disorder of glycosylation Ic Disease_Ontology DOID:0080556 DOID:0080556 congenital disorder of glycosylation Id Disease_Ontology DOID:0080557 DOID:0080557 congenital disorder of glycosylation Ie Disease_Ontology DOID:0080558 DOID:0080558 congenital disorder of glycosylation If Disease_Ontology DOID:0080559 DOID:0080559 congenital disorder of glycosylation Ig Disease_Ontology DOID:0080560 DOID:0080560 congenital disorder of glycosylation Ih Disease_Ontology DOID:0080561 DOID:0080561 congenital disorder of glycosylation Ii Disease_Ontology DOID:0080562 DOID:0080562 congenital disorder of glycosylation Ij Disease_Ontology DOID:0080563 DOID:0080563 congenital disorder of glycosylation Ik Disease_Ontology DOID:0080564 DOID:0080564 congenital disorder of glycosylation Il Disease_Ontology DOID:0080565 DOID:0080565 congenital disorder of glycosylation Im Disease_Ontology DOID:0080566 DOID:0080566 congenital disorder of glycosylation In Disease_Ontology DOID:0080567 DOID:0080567 congenital disorder of glycosylation Ip Disease_Ontology DOID:0080568 DOID:0080568 congenital disorder of glycosylation Iq Disease_Ontology DOID:0080569 DOID:0080569 congenital disorder of glycosylation Ir Disease_Ontology DOID:0080570 DOID:0080570 congenital disorder of glycosylation It Disease_Ontology DOID:0080571 DOID:0080571 congenital disorder of glycosylation Iu Disease_Ontology DOID:0080572 DOID:0080572 congenital disorder of glycosylation Iw Disease_Ontology DOID:0080573 DOID:0080573 congenital disorder of glycosylation Ix Disease_Ontology DOID:0080574 DOID:0080574 congenital disorder of glycosylation Iy Disease_Ontology DOID:0080575 DOID:0080575 Larsen-like syndrome B3GAT3 type Disease_Ontology DOID:0080576 DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type Disease_Ontology DOID:0080577 DOID:0080577 polygenic disease Disease_Ontology DOID:0080578 DOID:0080578 digenic disease Disease_Ontology DOID:0080579 DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency Disease_Ontology DOID:0080580 DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency Disease_Ontology DOID:0080581 DOID:0080581 hyperekplexia 4 Disease_Ontology DOID:0080582 DOID:0080582 hypotrichosis 14 Disease_Ontology DOID:0080583 DOID:0080583 Wolfram syndrome, mitochondrial form Disease_Ontology DOID:0080584 DOID:0080584 autosomal dominant Wolfram syndrome Disease_Ontology DOID:0080585 DOID:0080585 Van Maldergem syndrome 1 Disease_Ontology DOID:0080586 DOID:0080586 Van Maldergem syndrome 2 Disease_Ontology DOID:0080587 DOID:0080587 congenital myasthenic syndrome 22 Disease_Ontology DOID:0080588 DOID:0080588 agammaglobulinemia 5 Disease_Ontology DOID:0080589 DOID:0080589 Klippel-Feil syndrome 1 Disease_Ontology DOID:0080590 DOID:0080590 Klippel-Feil syndrome 2 Disease_Ontology DOID:0080591 DOID:0080591 Klippel-Feil syndrome 3 Disease_Ontology DOID:0080592 DOID:0080592 Klippel-Feil syndrome 4 Disease_Ontology DOID:0080593 DOID:0080593 orofacial cleft 6 Disease_Ontology DOID:0080594 DOID:0080594 hyper IgE recurrent infection syndrome 2 Disease_Ontology DOID:0080595 DOID:0080595 autosomal recessive hyper-IgE syndrome 3 with recurrent infections Disease_Ontology DOID:0080596 DOID:0080596 hyper IgE recurrent infection syndrome 4 Disease_Ontology DOID:0080597 DOID:0080597 Kleefstra syndrome Disease_Ontology DOID:0080598 DOID:0080598 Kleefstra syndrome 2 Disease_Ontology DOID:0080599 DOID:0080599 Coronavirus infectious disease Disease_Ontology DOID:0080600 DOID:0080600 COVID-19 Disease_Ontology DOID:0080601 DOID:0080601 germ cell benign neoplasm Disease_Ontology DOID:0080602 DOID:0080602 benign teratoma Disease_Ontology DOID:0080603 DOID:0080603 ankylosing spondylitis 1 Disease_Ontology DOID:0080604 DOID:0080604 ankylosing spondylitis 2 Disease_Ontology DOID:0080605 DOID:0080605 ankylosing spondylitis 3 Disease_Ontology DOID:0080606 DOID:0080606 anterior segment dysgenesis 1 Disease_Ontology DOID:0080607 DOID:0080607 anterior segment dysgenesis 2 Disease_Ontology DOID:0080608 DOID:0080608 anterior segment dysgenesis 3 Disease_Ontology DOID:0080609 DOID:0080609 anterior segment dysgenesis 4 Disease_Ontology DOID:0080610 DOID:0080610 anterior segment dysgenesis 5 Disease_Ontology DOID:0080611 DOID:0080611 anterior segment dysgenesis 6 Disease_Ontology DOID:0080612 DOID:0080612 anterior segment dysgenesis 7 Disease_Ontology DOID:0080613 DOID:0080613 anterior segment dysgenesis 8 Disease_Ontology DOID:0080614 DOID:0080614 oculocutaneous albinism type VI Disease_Ontology DOID:0080615 DOID:0080615 nephroma Disease_Ontology DOID:0080616 DOID:0080616 kidney cortex disease Disease_Ontology DOID:0080617 DOID:0080617 lymph node benign neoplasm Disease_Ontology DOID:0080618 DOID:0080618 lymph node carcinoma Disease_Ontology DOID:0080619 DOID:0080619 auditory system benign neoplasm Disease_Ontology DOID:0080620 DOID:0080620 familial glucocorticoid deficiency Disease_Ontology DOID:0080621 DOID:0080621 glucocorticoid deficiency 1 Disease_Ontology DOID:0080622 DOID:0080622 peroxisome biogenesis disorder 2B Disease_Ontology DOID:0080623 DOID:0080623 Heimler syndrome 1 Disease_Ontology DOID:0080624 DOID:0080624 Heimler syndrome 2 Disease_Ontology DOID:0080625 DOID:0080625 severe congenital neutropenia 1 Disease_Ontology DOID:0080626 DOID:0080626 corticosterone methyloxidase deficiency 1 Disease_Ontology DOID:0080627 DOID:0080627 alopecia-mental retardation syndrome Disease_Ontology DOID:0080628 DOID:0080628 alopecia-mental retardation syndrome 1 Disease_Ontology DOID:0080629 DOID:0080629 alopecia-mental retardation syndrome 2 Disease_Ontology DOID:0080630 DOID:0080630 B-lymphoblastic leukemia/lymphoma Disease_Ontology DOID:0080631 DOID:0080631 Elsahy-Waters syndrome Disease_Ontology DOID:0080632 DOID:0080632 Fazio-Londe disease Disease_Ontology DOID:0080633 DOID:0080633 developmental cardiac valvular defect Disease_Ontology DOID:0080634 DOID:0080634 nanophthalmos Disease_Ontology DOID:0080635 DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy Disease_Ontology DOID:0080636 DOID:0080636 syndromic microphthalmia Disease_Ontology DOID:0080637 DOID:0080637 isolated microphthalmia Disease_Ontology DOID:0080638 DOID:0080638 B-cell acute lymphoblastic leukemia Disease_Ontology DOID:0080639 DOID:0080639 bone sarcoma Disease_Ontology DOID:0080640 DOID:0080640 gallbladder benign neoplasm Disease_Ontology DOID:0080641 DOID:0080641 tongue carcinoma Disease_Ontology DOID:0080642 DOID:0080642 Middle East respiratory syndrome Disease_Ontology DOID:0080643 DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 Disease_Ontology DOID:0080644 DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged Disease_Ontology DOID:0080645 DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 Disease_Ontology DOID:0080646 DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy Disease_Ontology DOID:0080647 DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy Disease_Ontology DOID:0080648 DOID:0080648 B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion Disease_Ontology DOID:0080649 DOID:0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 Disease_Ontology DOID:0080650 DOID:0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like Disease_Ontology DOID:0080651 DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 Disease_Ontology DOID:0080652 DOID:0080652 calcium oxalate nephrolithiasis Disease_Ontology DOID:0080653 DOID:0080653 urolithiasis Disease_Ontology DOID:0080654 DOID:0080654 uric acid urolithiasis Disease_Ontology DOID:0080655 DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis Disease_Ontology DOID:0080656 DOID:0080656 45,X/46,XY mixed gonadal dysgenesis Disease_Ontology DOID:0080661 DOID:0080661 nonsyndromic aplasia cutis congenita Disease_Ontology DOID:0080662 DOID:0080662 atrial standstill 1 Disease_Ontology DOID:0080663 DOID:0080663 atrial standstill 2 Disease_Ontology DOID:0080664 DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma Disease_Ontology DOID:0080665 DOID:0080665 warfarin resistance Disease_Ontology DOID:0080666 DOID:0080666 warfarin sensitivity Disease_Ontology DOID:0080667 DOID:0080667 spinal muscular atrophy type 0 Disease_Ontology DOID:0080669 DOID:0080669 posterior polymorphous corneal dystrophy 4 Disease_Ontology DOID:0080670 DOID:0080670 Meesmann corneal dystrophy 1 Disease_Ontology DOID:0080671 DOID:0080671 Meesmann corneal dystrophy 2 Disease_Ontology DOID:0080672 DOID:0080672 fibrochondrogenesis 1 Disease_Ontology DOID:0080673 DOID:0080673 fibrochondrogenesis 2 Disease_Ontology DOID:0080674 DOID:0080674 luminal breast carcinoma B Disease_Ontology DOID:0080675 DOID:0080675 Stickler syndrome 2 Disease_Ontology DOID:0080676 DOID:0080676 Stickler syndrome 1 Disease_Ontology DOID:0080677 DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant Disease_Ontology DOID:0080678 DOID:0080678 mucolipidosis III gamma Disease_Ontology DOID:0080679 DOID:0080679 neuronal intestinal dysplasia type A Disease_Ontology DOID:0080680 DOID:0080680 neuronal intestinal dysplasia type B Disease_Ontology DOID:0080681 DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction Disease_Ontology DOID:0080682 DOID:0080682 autosomal dominant familial visceral neuropathy Disease_Ontology DOID:0080683 DOID:0080683 nonsyndromic congenital nail disorder Disease_Ontology DOID:0080684 DOID:0080684 diffuse midline glioma, H3 K27-altered Disease_Ontology DOID:0080685 DOID:0080685 aortic dissection Disease_Ontology DOID:0080686 DOID:0080686 tubular aggregate myopathy 2 Disease_Ontology DOID:0080687 DOID:0080687 reducing body myopathy 1B Disease_Ontology DOID:0080688 DOID:0080688 mosaic variegated aneuploidy syndrome Disease_Ontology DOID:0080689 DOID:0080689 mosaic variegated aneuploidy syndrome 3 Disease_Ontology DOID:0080690 DOID:0080690 RASopathy Disease_Ontology DOID:0080691 DOID:0080691 Noonan syndrome-like disorder with loose anagen hair Disease_Ontology DOID:0080692 DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 Disease_Ontology DOID:0080693 DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 Disease_Ontology DOID:0080694 DOID:0080694 Galloway-Mowat syndrome Disease_Ontology DOID:0080695 DOID:0080695 Burn-McKeown syndrome Disease_Ontology DOID:0080696 DOID:0080696 Winchester syndrome Disease_Ontology DOID:0080697 DOID:0080697 Opitz GBBB syndrome Disease_Ontology DOID:0080698 DOID:0080698 Teebi hypertelorism syndrome 1 Disease_Ontology DOID:0080699 DOID:0080699 glutathione synthetase deficiency Disease_Ontology DOID:0080700 DOID:0080700 caudal regression syndrome Disease_Ontology DOID:0080702 DOID:0080702 medulloblastoma WNT activated Disease_Ontology DOID:0080703 DOID:0080703 medulloblastoma SHH activated Disease_Ontology DOID:0080704 DOID:0080704 medulloblastoma SHH activated and TP53 mutant Disease_Ontology DOID:0080705 DOID:0080705 medulloblastoma SHH activated and TP53 wild-type Disease_Ontology DOID:0080706 DOID:0080706 medulloblastoma non-WNT/non-SHH Disease_Ontology DOID:0080707 DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 Disease_Ontology DOID:0080708 DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 Disease_Ontology DOID:0080709 DOID:0080709 NK cell deficiency Disease_Ontology DOID:0080710 DOID:0080710 T cell and NK cell immunodeficiency Disease_Ontology DOID:0080711 DOID:0080711 multisystem inflammatory syndrome in children Disease_Ontology DOID:0080712 DOID:0080712 gene duplication disease Disease_Ontology DOID:0080714 DOID:0080714 hereditary alpha tryptasemia syndrome Disease_Ontology DOID:0080715 DOID:0080715 developmental and epileptic encephalopathy 82 Disease_Ontology DOID:0080716 DOID:0080716 infantile liver failure syndrome Disease_Ontology DOID:0080717 DOID:0080717 infantile liver failure syndrome 1 Disease_Ontology DOID:0080718 DOID:0080718 GNE myopathy Disease_Ontology DOID:0080719 DOID:0080719 congenital myopathy 6 Disease_Ontology DOID:0080720 DOID:0080720 autosomal dominant congenital deafness with onychodystrophy Disease_Ontology DOID:0080721 DOID:0080721 calvarial doughnut lesions with bone fragility Disease_Ontology DOID:0080722 DOID:0080722 Kenny-Caffey syndrome type 1 Disease_Ontology DOID:0080723 DOID:0080723 Kenny-Caffey syndrome type 2 Disease_Ontology DOID:0080724 DOID:0080724 Kenny-Caffey syndrome Disease_Ontology DOID:0080725 DOID:0080725 BASAN syndrome Disease_Ontology DOID:0080726 DOID:0080726 Ehlers-Danlos syndrome classic type 2 Disease_Ontology DOID:0080727 DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 Disease_Ontology DOID:0080728 DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 Disease_Ontology DOID:0080729 DOID:0080729 brittle cornea syndrome 2 Disease_Ontology DOID:0080730 DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type Disease_Ontology DOID:0080731 DOID:0080731 Ehlers-Danlos syndrome classic-like 1 Disease_Ontology DOID:0080732 DOID:0080732 Ehlers-Danlos syndrome classic-like 2 Disease_Ontology DOID:0080733 DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type Disease_Ontology DOID:0080734 DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 Disease_Ontology DOID:0080735 DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 Disease_Ontology DOID:0080736 DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 Disease_Ontology DOID:0080737 DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 Disease_Ontology DOID:0080738 DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 Disease_Ontology DOID:0080739 DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 Disease_Ontology DOID:0080740 DOID:0080740 Libman-Sacks endocarditis Disease_Ontology DOID:0080741 DOID:0080741 limbic encephalitis Disease_Ontology DOID:0080742 DOID:0080742 autoimmune cholangitis Disease_Ontology DOID:0080743 DOID:0080743 transverse myelitis Disease_Ontology DOID:0080744 DOID:0080744 antisynthetase syndrome Disease_Ontology DOID:0080745 DOID:0080745 polymyositis Disease_Ontology DOID:0080746 DOID:0080746 Sweet syndrome Disease_Ontology DOID:0080747 DOID:0080747 chronic urticaria Disease_Ontology DOID:0080748 DOID:0080748 chronic inducible urticaria Disease_Ontology DOID:0080749 DOID:0080749 chronic spontaneous urticaria Disease_Ontology DOID:0080750 DOID:0080750 erythema nodosum Disease_Ontology DOID:0080751 DOID:0080751 keratosis pilaris atrophicans Disease_Ontology DOID:0080752 DOID:0080752 keratosis pilaris atrophicans faciei Disease_Ontology DOID:0080753 DOID:0080753 keratosis follicularis spinulosa decalvans Disease_Ontology DOID:0080754 DOID:0080754 X-linked keratosis follicularis spinulosa decalvans Disease_Ontology DOID:0080755 DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans Disease_Ontology DOID:0080756 DOID:0080756 atrophoderma vermiculata Disease_Ontology DOID:0080757 DOID:0080757 Fanconi renotubular syndrome 1 Disease_Ontology DOID:0080758 DOID:0080758 Fanconi renotubular syndrome 2 Disease_Ontology DOID:0080759 DOID:0080759 Fanconi renotubular syndrome 3 Disease_Ontology DOID:0080760 DOID:0080760 Fanconi renotubular syndrome 4 Disease_Ontology DOID:0080761 DOID:0080761 Fanconi renotubular syndrome 5 Disease_Ontology DOID:0080762 DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z Disease_Ontology DOID:0080763 DOID:0080763 diffuse gastric cancer Disease_Ontology DOID:0080764 DOID:0080764 hereditary diffuse gastric cancer Disease_Ontology DOID:0080765 DOID:0080765 autosomal recessive intellectual developmental disorder 72 Disease_Ontology DOID:0080766 DOID:0080766 erythrokeratodermia variabilis et progressiva 6 Disease_Ontology DOID:0080767 DOID:0080767 autoimmune myocarditis Disease_Ontology DOID:0080768 DOID:0080768 pyridoxine-dependent epilepsy Disease_Ontology DOID:0080769 DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 Disease_Ontology DOID:0080770 DOID:0080770 autosomal dominant beta thalassemia Disease_Ontology DOID:0080771 DOID:0080771 beta-thalassemia major Disease_Ontology DOID:0080772 DOID:0080772 beta-thalassemia intermedia Disease_Ontology DOID:0080773 DOID:0080773 delta beta-thalassemia Disease_Ontology DOID:0080774 DOID:0080774 thalassemia minor Disease_Ontology DOID:0080775 DOID:0080775 complete androgen insensitivity syndrome Disease_Ontology DOID:0080776 DOID:0080776 partial androgen insensitivity syndrome Disease_Ontology DOID:0080777 DOID:0080777 lung sarcomatoid carcinoma Disease_Ontology DOID:0080778 DOID:0080778 transient infantile liver failure Disease_Ontology DOID:0080779 DOID:0080779 plasmablastic lymphoma Disease_Ontology DOID:0080780 DOID:0080780 acute erythroid leukemia Disease_Ontology DOID:0080781 DOID:0080781 benign exocrine pancreas neoplasm Disease_Ontology DOID:0080782 DOID:0080782 mucinous pancreas adenocarcinoma Disease_Ontology DOID:0080784 DOID:0080784 urinary tract infection Disease_Ontology DOID:0080785 DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 Disease_Ontology DOID:0080786 DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 Disease_Ontology DOID:0080787 DOID:0080787 proximal symphalangism 1 Disease_Ontology DOID:0080788 DOID:0080788 proximal symphalangism 2 Disease_Ontology DOID:0080789 DOID:0080789 Treacher Collins syndrome 1 Disease_Ontology DOID:0080790 DOID:0080790 Treacher Collins syndrome 2 Disease_Ontology DOID:0080791 DOID:0080791 Treacher Collins syndrome 3 Disease_Ontology DOID:0080792 DOID:0080792 Treacher Collins syndrome 4 Disease_Ontology DOID:0080794 DOID:0080794 childhood acute megakaryoblastic leukemia Disease_Ontology DOID:0080795 DOID:0080795 acute basophilic leukemia Disease_Ontology DOID:0080796 DOID:0080796 core binding factor acute myeloid leukemia Disease_Ontology DOID:0080797 DOID:0080797 nasal type extranodal NK/T-cell lymphoma Disease_Ontology DOID:0080798 DOID:0080798 myeloid leukemia associated with Down Syndrome Disease_Ontology DOID:0080799 DOID:0080799 sinonasal undifferentiated carcinoma Disease_Ontology DOID:0080800 DOID:0080800 salivary gland mucinous adenocarcinoma Disease_Ontology DOID:0080801 DOID:0080801 autosomal dominant craniometaphyseal dysplasia Disease_Ontology DOID:0080802 DOID:0080802 autosomal recessive craniometaphyseal dysplasia Disease_Ontology DOID:0080803 DOID:0080803 cranioectodermal dysplasia 1 Disease_Ontology DOID:0080804 DOID:0080804 cranioectodermal dysplasia 2 Disease_Ontology DOID:0080805 DOID:0080805 cranioectodermal dysplasia 3 Disease_Ontology DOID:0080806 DOID:0080806 cranioectodermal dysplasia 4 Disease_Ontology DOID:0080807 DOID:0080807 autosomal dominant craniodiaphyseal dysplasia Disease_Ontology DOID:0080808 DOID:0080808 mammary analogue secretory carcinoma Disease_Ontology DOID:0080809 DOID:0080809 chronic asthma Disease_Ontology DOID:0080810 DOID:0080810 acute asthma Disease_Ontology DOID:0080811 DOID:0080811 extrinsic asthma Disease_Ontology DOID:0080812 DOID:0080812 intermittent asthma Disease_Ontology DOID:0080813 DOID:0080813 persistent mild asthma Disease_Ontology DOID:0080814 DOID:0080814 persistent moderate asthma Disease_Ontology DOID:0080815 DOID:0080815 childhood-onset asthma Disease_Ontology DOID:0080816 DOID:0080816 adult-onset severe asthma Disease_Ontology DOID:0080817 DOID:0080817 T2-high asthma Disease_Ontology DOID:0080818 DOID:0080818 T2-low asthma Disease_Ontology DOID:0080819 DOID:0080819 environmentally induced asthma Disease_Ontology DOID:0080820 DOID:0080820 occupational asthma Disease_Ontology DOID:0080821 DOID:0080821 exercise-induced bronchoconstriction Disease_Ontology DOID:0080822 DOID:0080822 aspirin-induced respiratory disease Disease_Ontology DOID:0080823 DOID:0080823 near-fatal asthma Disease_Ontology DOID:0080824 DOID:0080824 persistent severe asthma Disease_Ontology DOID:0080825 DOID:0080825 thunderstorm triggered asthma Disease_Ontology DOID:0080826 DOID:0080826 nocturnal asthma Disease_Ontology DOID:0080827 DOID:0080827 human cytomegalovirus infection Disease_Ontology DOID:0080828 DOID:0080828 VEXAS syndrome Disease_Ontology DOID:0080829 DOID:0080829 low grade glioma Disease_Ontology DOID:0080830 DOID:0080830 childhood low-grade glioma Disease_Ontology DOID:0080831 DOID:0080831 subjective cognitive decline Disease_Ontology DOID:0080832 DOID:0080832 mild cognitive impairment Disease_Ontology DOID:0080833 DOID:0080833 laryngomalacia Disease_Ontology DOID:0080834 DOID:0080834 acquired laryngomalacia Disease_Ontology DOID:0080835 DOID:0080835 TORCH syndrome Disease_Ontology DOID:0080836 DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 Disease_Ontology DOID:0080837 DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 Disease_Ontology DOID:0080839 DOID:0080839 X-linked warfarin sensitivity Disease_Ontology DOID:0080840 DOID:0080840 optic atrophy 12 Disease_Ontology DOID:0080841 DOID:0080841 pemphigoid Disease_Ontology DOID:0080842 DOID:0080842 intracranial meningioma Disease_Ontology DOID:0080843 DOID:0080843 supratentorial meningioma Disease_Ontology DOID:0080844 DOID:0080844 omodysplasia 1 Disease_Ontology DOID:0080845 DOID:0080845 omodysplasia 2 Disease_Ontology DOID:0080846 DOID:0080846 latent autoimmune diabetes in adults Disease_Ontology DOID:0080848 DOID:0080848 long COVID Disease_Ontology DOID:0080849 DOID:0080849 ocular motor apraxia, Cogan type Disease_Ontology DOID:0080850 DOID:0080850 pemphigus foliaceus Disease_Ontology DOID:0080851 DOID:0080851 IgA pemphigus Disease_Ontology DOID:0080852 DOID:0080852 paraneoplastic pemphigus Disease_Ontology DOID:0080854 DOID:0080854 anaplastic pleomorphic xanthoastrocytoma Disease_Ontology DOID:0080855 DOID:0080855 Parkinsonism Disease_Ontology DOID:0080856 DOID:0080856 vascular Parkinsonism Disease_Ontology DOID:0080857 DOID:0080857 primary ovarian insufficiency 1 Disease_Ontology DOID:0080858 DOID:0080858 primary ovarian insufficiency 2A Disease_Ontology DOID:0080859 DOID:0080859 primary ovarian insufficiency 2B Disease_Ontology DOID:0080860 DOID:0080860 primary ovarian insufficiency 3 Disease_Ontology DOID:0080861 DOID:0080861 primary ovarian insufficiency 4 Disease_Ontology DOID:0080862 DOID:0080862 primary ovarian insufficiency 5 Disease_Ontology DOID:0080863 DOID:0080863 primary ovarian insufficiency 6 Disease_Ontology DOID:0080864 DOID:0080864 primary ovarian insufficiency 7 Disease_Ontology DOID:0080865 DOID:0080865 primary ovarian insufficiency 8 Disease_Ontology DOID:0080866 DOID:0080866 primary ovarian insufficiency 9 Disease_Ontology DOID:0080867 DOID:0080867 primary ovarian insufficiency 10 Disease_Ontology DOID:0080868 DOID:0080868 primary ovarian insufficiency 11 Disease_Ontology DOID:0080869 DOID:0080869 primary ovarian insufficiency 12 Disease_Ontology DOID:0080870 DOID:0080870 primary ovarian insufficiency 13 Disease_Ontology DOID:0080871 DOID:0080871 primary ovarian insufficiency 14 Disease_Ontology DOID:0080872 DOID:0080872 primary ovarian insufficiency 15 Disease_Ontology DOID:0080873 DOID:0080873 primary ovarian insufficiency 16 Disease_Ontology DOID:0080874 DOID:0080874 primary ovarian insufficiency 17 Disease_Ontology DOID:0080875 DOID:0080875 IDH-mutant anaplastic astrocytoma Disease_Ontology DOID:0080876 DOID:0080876 IDH-wildtype anaplastic astrocytoma Disease_Ontology DOID:0080877 DOID:0080877 astrocytoma, IDH-mutant, grade 4 Disease_Ontology DOID:0080878 DOID:0080878 IDH-wildtype glioblastoma Disease_Ontology DOID:0080879 DOID:0080879 histone mutated tumor Disease_Ontology DOID:0080880 DOID:0080880 diffuse glioma, H3 G34 mutant Disease_Ontology DOID:0080881 DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant Disease_Ontology DOID:0080882 DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma Disease_Ontology DOID:0080883 DOID:0080883 vitamin D-dependent rickets Disease_Ontology DOID:0080884 DOID:0080884 vitamin D-dependent rickets type 2A Disease_Ontology DOID:0080885 DOID:0080885 vitamin D-dependent rickets type 2B Disease_Ontology DOID:0080886 DOID:0080886 vitamin D-dependent rickets type 1A Disease_Ontology DOID:0080887 DOID:0080887 vitamin D-dependent rickets type 1B Disease_Ontology DOID:0080888 DOID:0080888 spinal ependymoma, MYCN-amplified Disease_Ontology DOID:0080889 DOID:0080889 posterior fossa ependymoma Disease_Ontology DOID:0080890 DOID:0080890 supratentorial ependymoma Disease_Ontology DOID:0080891 DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma Disease_Ontology DOID:0080892 DOID:0080892 RELA fusion-positive ependymoma Disease_Ontology DOID:0080893 DOID:0080893 Bainbridge-Ropers syndrome Disease_Ontology DOID:0080894 DOID:0080894 lipofibromatosis-like neural tumor Disease_Ontology DOID:0080895 DOID:0080895 rapidly involuting congenital hemangioma Disease_Ontology DOID:0080896 DOID:0080896 pericytoma with t(7;12) Disease_Ontology DOID:0080897 DOID:0080897 solitary fibrous tumor/hemangiopericytoma Disease_Ontology DOID:0080898 DOID:0080898 cerebellofaciodental syndrome Disease_Ontology DOID:0080899 DOID:0080899 lung pleomorphic carcinoma Disease_Ontology DOID:0080900 DOID:0080900 oral rhabdomyosarcoma Disease_Ontology DOID:0080901 DOID:0080901 bladder sarcomatoid transitional cell carcinoma Disease_Ontology DOID:0080902 DOID:0080902 bladder small cell carcinoma Disease_Ontology DOID:0080903 DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered Disease_Ontology DOID:0080904 DOID:0080904 astroblastoma, MN1-altered Disease_Ontology DOID:0080905 DOID:0080905 central nervous system neuroblastoma Disease_Ontology DOID:0080906 DOID:0080906 CNS neuroblastoma with FOXR2 activation Disease_Ontology DOID:0080907 DOID:0080907 Cockayne syndrome A Disease_Ontology DOID:0080908 DOID:0080908 Cockayne syndrome B Disease_Ontology DOID:0080909 DOID:0080909 castration-resistant prostate carcinoma Disease_Ontology DOID:0080910 DOID:0080910 cerebrooculofacioskeletal syndrome Disease_Ontology DOID:0080911 DOID:0080911 cerebrooculofacioskeletal syndrome 1 Disease_Ontology DOID:0080912 DOID:0080912 cerebrooculofacioskeletal syndrome 2 Disease_Ontology DOID:0080913 DOID:0080913 cerebrooculofacioskeletal syndrome 3 Disease_Ontology DOID:0080914 DOID:0080914 cerebrooculofacioskeletal syndrome 4 Disease_Ontology DOID:0080915 DOID:0080915 histiocytic sarcoma Disease_Ontology DOID:0080916 DOID:0080916 erythroleukemia Disease_Ontology DOID:0080917 DOID:0080917 sporadic amyotrophic lateral sclerosis Disease_Ontology DOID:0080918 DOID:0080918 polymicrogyria Disease_Ontology DOID:0080919 DOID:0080919 unilateral focal polymicrogyria Disease_Ontology DOID:0080920 DOID:0080920 bilateral generalized polymicrogyria Disease_Ontology DOID:0080921 DOID:0080921 bilateral frontal polymicrogyria Disease_Ontology DOID:0080922 DOID:0080922 complex cortical dysplasia with other brain malformations 14A Disease_Ontology DOID:0080923 DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria Disease_Ontology DOID:0080924 DOID:0080924 complex cortical dysplasia with other brain malformations 14B Disease_Ontology DOID:0080925 DOID:0080925 cytochrome P450 oxidoreductase deficiency Disease_Ontology DOID:0080926 DOID:0080926 7q11.23 duplication syndrome Disease_Ontology DOID:0080927 DOID:0080927 apolipoprotein A-IV associated amyloidosis Disease_Ontology DOID:0080928 DOID:0080928 dialysis-related amyloidosis Disease_Ontology DOID:0080929 DOID:0080929 variant ABeta2M amyloidosis Disease_Ontology DOID:0080930 DOID:0080930 primary localized cutaneous amyloidosis 1 Disease_Ontology DOID:0080931 DOID:0080931 primary localized cutaneous amyloidosis 2 Disease_Ontology DOID:0080932 DOID:0080932 primary localized cutaneous amyloidosis 3 Disease_Ontology DOID:0080933 DOID:0080933 immunoglobulin light chain amyloidosis Disease_Ontology DOID:0080934 DOID:0080934 immunoglobulin heavy chain amyloidosis Disease_Ontology DOID:0080935 DOID:0080935 immunoglobulin heavy-and-light chain Disease_Ontology DOID:0080936 DOID:0080936 serum amyloid A amyloidosis Disease_Ontology DOID:0080937 DOID:0080937 wild-type amyloidosis Disease_Ontology DOID:0080938 DOID:0080938 nonobstructive coronary artery disease Disease_Ontology DOID:0080939 DOID:0080939 hereditary angioedema type I Disease_Ontology DOID:0080940 DOID:0080940 hereditary angioedema type III Disease_Ontology DOID:0080941 DOID:0080941 acquired angioedema Disease_Ontology DOID:0080942 DOID:0080942 anauxetic dysplasia Disease_Ontology DOID:0080943 DOID:0080943 46,XX sex reversal 5 Disease_Ontology DOID:0080944 DOID:0080944 familial Behcet-like autoinflammatory syndrome Disease_Ontology DOID:0080945 DOID:0080945 abdominal obesity-metabolic syndrome 4 Disease_Ontology DOID:0080946 DOID:0080946 retinal dystrophy with leukodystrophy Disease_Ontology DOID:0080947 DOID:0080947 acute flaccid myelitis Disease_Ontology DOID:0080948 DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome Disease_Ontology DOID:0080949 DOID:0080949 alcoholic ketoacidosis Disease_Ontology DOID:0080950 DOID:0080950 alopecia-mental retardation syndrome 4 Disease_Ontology DOID:0080951 DOID:0080951 alopecia-mental retardation syndrome 3 Disease_Ontology DOID:0080952 DOID:0080952 AMED syndrome Disease_Ontology DOID:0080953 DOID:0080953 amelogenesis imperfecta type 1J Disease_Ontology DOID:0080954 DOID:0080954 arthrogryposis multiplex congenita Disease_Ontology DOID:0080956 DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered Disease_Ontology DOID:0080957 DOID:0080957 primary hypoalphalipoproteinemia 1 Disease_Ontology DOID:0080958 DOID:0080958 primary hypoalphalipoproteinemia 2 Disease_Ontology DOID:0080959 DOID:0080959 arrhythmogenic right ventricular dysplasia 14 Disease_Ontology DOID:0080960 DOID:0080960 amelogenesis imperfecta type 2A6 Disease_Ontology DOID:0080962 DOID:0080962 anauxetic dysplasia 2 Disease_Ontology DOID:0080963 DOID:0080963 anauxetic dysplasia 3 Disease_Ontology DOID:0080964 DOID:0080964 intracranial berry aneurysm 1 Disease_Ontology DOID:0080965 DOID:0080965 intracranial berry aneurysm 2 Disease_Ontology DOID:0080966 DOID:0080966 intracranial berry aneurysm 3 Disease_Ontology DOID:0080967 DOID:0080967 intracranial berry aneurysm 4 Disease_Ontology DOID:0080968 DOID:0080968 intracranial berry aneurysm 5 Disease_Ontology DOID:0080969 DOID:0080969 intracranial berry aneurysm 6 Disease_Ontology DOID:0080970 DOID:0080970 intracranial berry aneurysm 7 Disease_Ontology DOID:0080971 DOID:0080971 intracranial berry aneurysm 8 Disease_Ontology DOID:0080972 DOID:0080972 intracranial berry aneurysm 9 Disease_Ontology DOID:0080973 DOID:0080973 intracranial berry aneurysm 10 Disease_Ontology DOID:0080974 DOID:0080974 intracranial berry aneurysm 11 Disease_Ontology DOID:0080975 DOID:0080975 intracranial berry aneurysm 12 Disease_Ontology DOID:0080976 DOID:0080976 acute myeloid leukemia with BCR-ABL1 Disease_Ontology DOID:0080977 DOID:0080977 aortic valve disease 3 Disease_Ontology DOID:0080978 DOID:0080978 arthrogryposis multiplex congenita-1 Disease_Ontology DOID:0080979 DOID:0080979 arthrogryposis multiplex congenita-3 Disease_Ontology DOID:0080980 DOID:0080980 arthrogryposis multiplex congenita-4 Disease_Ontology DOID:0080981 DOID:0080981 arthrogryposis multiplex congenita-5 Disease_Ontology DOID:0080982 DOID:0080982 X-linked intellectual disability-hypotonic facies syndrome-1 Disease_Ontology DOID:0080984 DOID:0080984 X-linked intellectual developmental disorder 109 Disease_Ontology DOID:0080985 DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type Disease_Ontology DOID:0080986 DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 Disease_Ontology DOID:0080987 DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 Disease_Ontology DOID:0080988 DOID:0080988 pretibial dystrophic epidermolysis bullosa Disease_Ontology DOID:0080990 DOID:0080990 King Denborough syndrome Disease_Ontology DOID:0080991 DOID:0080991 congenital myopathy 1B Disease_Ontology DOID:0080992 DOID:0080992 rhabdomyolysis-myalgia syndrome Disease_Ontology DOID:0080994 DOID:0080994 autoimmune epilepsy Disease_Ontology DOID:0080995 DOID:0080995 tuberculous encephalopathy Disease_Ontology DOID:0080996 DOID:0080996 diffuse large B-cell lymphoma activated B-cell type Disease_Ontology DOID:0080997 DOID:0080997 diffuse large B-cell lymphoma germinal center B-cell type Disease_Ontology DOID:0080998 DOID:0080998 acute necrotizing pancreatitis Disease_Ontology DOID:0080999 DOID:0080999 acute hemorrhagic pancreatitis Disease_Ontology DOID:0081000 DOID:0081000 Cowden syndrome 4 Disease_Ontology DOID:0081001 DOID:0081001 Cowden syndrome 5 Disease_Ontology DOID:0081002 DOID:0081002 Cowden syndrome 6 Disease_Ontology DOID:0081003 DOID:0081003 Cowden syndrome 7 Disease_Ontology DOID:0081004 DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit Disease_Ontology DOID:0081005 DOID:0081005 parsley allergy Disease_Ontology DOID:0081006 DOID:0081006 dill allergy Disease_Ontology DOID:0081007 DOID:0081007 RNASET2-deficient cystic leukoencephalopathy Disease_Ontology DOID:0081008 DOID:0081008 Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia Disease_Ontology DOID:0081009 DOID:0081009 Bardet-Biedl syndrome 20 Disease_Ontology DOID:0081010 DOID:0081010 Bardet-Biedl syndrome 21 Disease_Ontology DOID:0081011 DOID:0081011 Bardet-Biedl syndrome 22 Disease_Ontology DOID:0081012 DOID:0081012 critical COVID-19 Disease_Ontology DOID:0081013 DOID:0081013 severe COVID-19 Disease_Ontology DOID:0081014 DOID:0081014 non-severe COVID-19 Disease_Ontology DOID:0081015 DOID:0081015 congenital fibrosis of the extraocular muscles 1 Disease_Ontology DOID:0081016 DOID:0081016 congenital fibrosis of the extraocular muscles 2 Disease_Ontology DOID:0081017 DOID:0081017 congenital fibrosis of the extraocular muscles 3A Disease_Ontology DOID:0081019 DOID:0081019 congenital fibrosis of the extraocular muscles 3C Disease_Ontology DOID:0081020 DOID:0081020 congenital fibrosis of the extraocular muscles 5 Disease_Ontology DOID:0081021 DOID:0081021 Tukel syndrome Disease_Ontology DOID:0081022 DOID:0081022 cone dystrophy with supernormal rod responses Disease_Ontology DOID:0081023 DOID:0081023 retinal cone dystrophy 4 Disease_Ontology DOID:0081024 DOID:0081024 retinal cone dystrophy 1 Disease_Ontology DOID:0081025 DOID:0081025 achromatopsia 6 Disease_Ontology DOID:0081026 DOID:0081026 benign peritoneal solitary fibrous tumor Disease_Ontology DOID:0081028 DOID:0081028 glycogen-rich carcinoma Disease_Ontology DOID:0081030 DOID:0081030 central conducting lymphatic anomaly Disease_Ontology DOID:0081031 DOID:0081031 generalized lymphatic anomaly Disease_Ontology DOID:0081034 DOID:0081034 glutathione synthetase deficiency with 5-oxoprolinuria Disease_Ontology DOID:0081036 DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 Disease_Ontology DOID:0081037 DOID:0081037 mixed phenotype acute leukemia with MLL rearranged Disease_Ontology DOID:0081038 DOID:0081038 mixed phenotype acute leukemia, B/myeloid Disease_Ontology DOID:0081039 DOID:0081039 mixed phenotype acute leukemia, T/myeloid Disease_Ontology DOID:0081041 DOID:0081041 B-cell prolymphocytic leukemia Disease_Ontology DOID:0081042 DOID:0081042 T-cell prolymphocytic leukemia Disease_Ontology DOID:0081043 DOID:0081043 fetal akinesia deformation sequence syndrome X-linked Disease_Ontology DOID:0081044 DOID:0081044 frontonasal dysplasia Disease_Ontology DOID:0081045 DOID:0081045 frontonasal dysplasia 1 Disease_Ontology DOID:0081046 DOID:0081046 frontonasal dysplasia 2 Disease_Ontology DOID:0081047 DOID:0081047 frontonasal dysplasia 3 Disease_Ontology DOID:0081048 DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome Disease_Ontology DOID:0081049 DOID:0081049 hepatosplenic T-cell lymphoma Disease_Ontology DOID:0081050 DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma Disease_Ontology DOID:0081051 DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations Disease_Ontology DOID:0081052 DOID:0081052 neurobehavioral disorder with prenatal alcohol exposure Disease_Ontology DOID:0081055 DOID:0081055 central diabetes insipidus Disease_Ontology DOID:0081057 DOID:0081057 gestational diabetes insipidus Disease_Ontology DOID:0081058 DOID:0081058 dipsogenic diabetes insipidus Disease_Ontology DOID:0081059 DOID:0081059 X-linked central diabetes insipidus Disease_Ontology DOID:0081060 DOID:0081060 X-linked nephrogenic diabetes insipidus Disease_Ontology DOID:0081061 DOID:0081061 nephrogenic diabetes insipidus type 2 Disease_Ontology DOID:0081063 DOID:0081063 DICER1 syndrome Disease_Ontology DOID:0081064 DOID:0081064 BN2 diffuse large B-cell lymphoma Disease_Ontology DOID:0081065 DOID:0081065 EZB diffuse large B-cell lymphoma Disease_Ontology DOID:0081066 DOID:0081066 MCD diffuse large B-cell lymphoma Disease_Ontology DOID:0081067 DOID:0081067 N1 diffuse large B-cell lymphoma Disease_Ontology DOID:0081068 DOID:0081068 ST2 diffuse large B-cell lymphoma Disease_Ontology DOID:0081069 DOID:0081069 A53 diffuse large B-cell lymphoma Disease_Ontology DOID:0081070 DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma Disease_Ontology DOID:0081071 DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma Disease_Ontology DOID:0081072 DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Disease_Ontology DOID:0081073 DOID:0081073 Teebi hypertelorism syndrome Disease_Ontology DOID:0081074 DOID:0081074 Teebi hypertelorism syndrome 2 Disease_Ontology DOID:0081075 DOID:0081075 Marsili syndrome Disease_Ontology DOID:0081076 DOID:0081076 blastic plasmacytoid dendritic cell neoplasm Disease_Ontology DOID:0081077 DOID:0081077 ectodermal dysplasia and immune deficiency Disease_Ontology DOID:0081078 DOID:0081078 ectodermal dysplasia and immunodeficiency 1 Disease_Ontology DOID:0081079 DOID:0081079 ectodermal dysplasia and immunodeficiency 2 Disease_Ontology DOID:0081080 DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) Disease_Ontology DOID:0081081 DOID:0081081 acute promyelocytic leukemia with PML-RARA Disease_Ontology DOID:0081082 DOID:0081082 acute myelomonocytic leukemia Disease_Ontology DOID:0081083 DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) Disease_Ontology DOID:0081084 DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) Disease_Ontology DOID:0081085 DOID:0081085 acute myeloid leukemia with minimal differentiation Disease_Ontology DOID:0081086 DOID:0081086 acute myeloid leukemia without maturation Disease_Ontology DOID:0081087 DOID:0081087 acute myeloid leukemia with maturation Disease_Ontology DOID:0081088 DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive Disease_Ontology DOID:0081089 DOID:0081089 acute myeloid leukemia with mutated NPM1 Disease_Ontology DOID:0081090 DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA Disease_Ontology DOID:0081091 DOID:0081091 acute myeloid leukemia with mutated RUNX1 Disease_Ontology DOID:0081092 DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes Disease_Ontology DOID:0081093 DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) Disease_Ontology DOID:0081094 DOID:0081094 acute myeloid leukemia with MLL rearrangement Disease_Ontology DOID:0081095 DOID:0081095 acute myeloid leukemia with mutated CEBPA Disease_Ontology DOID:0081096 DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) Disease_Ontology DOID:0081097 DOID:0081097 Rafiq syndrome Disease_Ontology DOID:0081098 DOID:0081098 autosomal recessive intellectual developmental disorder 13 Disease_Ontology DOID:0081099 DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies Disease_Ontology DOID:0081100 DOID:0081100 spastic paraplegia with deafness Disease_Ontology DOID:0081101 DOID:0081101 nonautoimmune hyperthyroidism Disease_Ontology DOID:0081102 DOID:0081102 familial gestational hyperthyroidism Disease_Ontology DOID:0081104 DOID:0081104 hot water epilepsy Disease_Ontology DOID:0081105 DOID:0081105 keratosis palmoplantaris striata Disease_Ontology DOID:0081106 DOID:0081106 hot water epilepsy 1 Disease_Ontology DOID:0081107 DOID:0081107 hot water epilepsy 2 Disease_Ontology DOID:0081108 DOID:0081108 keratosis palmoplantaris striata 1 Disease_Ontology DOID:0081109 DOID:0081109 keratosis palmoplantaris striata 2 Disease_Ontology DOID:0081110 DOID:0081110 keratosis palmoplantaris striata 3 Disease_Ontology DOID:0081111 DOID:0081111 osteosclerotic metaphyseal dysplasia Disease_Ontology DOID:0081112 DOID:0081112 Baraitser-Winter syndrome 1 Disease_Ontology DOID:0081113 DOID:0081113 Baraitser-Winter syndrome 2 Disease_Ontology DOID:0081114 DOID:0081114 benign familial infantile seizures 1 Disease_Ontology DOID:0081115 DOID:0081115 benign familial infantile seizures 2 Disease_Ontology DOID:0081116 DOID:0081116 benign familial infantile seizures 3 Disease_Ontology DOID:0081117 DOID:0081117 benign familial infantile seizures 4 Disease_Ontology DOID:0081118 DOID:0081118 benign familial infantile seizures 5 Disease_Ontology DOID:0081120 DOID:0081120 Graves ophthalmopathy Disease_Ontology DOID:0081121 DOID:0081121 inclusion body myopathy and brain white matter abnormalities Disease_Ontology DOID:0081122 DOID:0081122 Catel Manzke syndrome Disease_Ontology DOID:0081123 DOID:0081123 X-linked mental retardation Gustavson type Disease_Ontology DOID:0081124 DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 Disease_Ontology DOID:0081125 DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 Disease_Ontology DOID:0081126 DOID:0081126 DeSanto-Shinawi syndrome Disease_Ontology DOID:0081127 DOID:0081127 mandibuloacral dysplasia Disease_Ontology DOID:0081128 DOID:0081128 mandibuloacral dysplasia type A lipodystrophy Disease_Ontology DOID:0081129 DOID:0081129 mandibuloacral dysplasia type B lipodystrophy Disease_Ontology DOID:0081130 DOID:0081130 BH4-deficient hyperphenylalaninemia C Disease_Ontology DOID:0081131 DOID:0081131 BH4-deficient hyperphenylalaninemia D Disease_Ontology DOID:0081132 DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia Disease_Ontology DOID:0081133 DOID:0081133 3-methylglutaconic aciduria type 7a Disease_Ontology DOID:0081134 DOID:0081134 3-methylglutaconic aciduria type 7b Disease_Ontology DOID:0081135 DOID:0081135 agammaglobulinemia 2 Disease_Ontology DOID:0081136 DOID:0081136 agammaglobulinemia 1 Disease_Ontology DOID:0081137 DOID:0081137 agammaglobulinemia 3 Disease_Ontology DOID:0081138 DOID:0081138 agammaglobulinemia 6 Disease_Ontology DOID:0081139 DOID:0081139 agammaglobulinemia 7 Disease_Ontology DOID:0081140 DOID:0081140 agammaglobulinemia 8A Disease_Ontology DOID:0081141 DOID:0081141 agammaglobulinemia 9 Disease_Ontology DOID:0081142 DOID:0081142 agammaglobulinemia 10 Disease_Ontology DOID:0081143 DOID:0081143 agammaglobulinemia 8B Disease_Ontology DOID:0081144 DOID:0081144 common variable immunodeficiency 1 Disease_Ontology DOID:0081145 DOID:0081145 common variable immunodeficiency 2 Disease_Ontology DOID:0081146 DOID:0081146 common variable immunodeficiency 3 Disease_Ontology DOID:0081147 DOID:0081147 common variable immunodeficiency 4 Disease_Ontology DOID:0081148 DOID:0081148 common variable immunodeficiency 5 Disease_Ontology DOID:0081149 DOID:0081149 common variable immunodeficiency 6 Disease_Ontology DOID:0081150 DOID:0081150 common variable immunodeficiency 7 Disease_Ontology DOID:0081151 DOID:0081151 common variable immunodeficiency 8 Disease_Ontology DOID:0081152 DOID:0081152 common variable immunodeficiency 10 Disease_Ontology DOID:0081153 DOID:0081153 common variable immunodeficiency 11 Disease_Ontology DOID:0081154 DOID:0081154 common variable immunodeficiency 12 Disease_Ontology DOID:0081155 DOID:0081155 common variable immunodeficiency 13 Disease_Ontology DOID:0081156 DOID:0081156 common variable immunodeficiency 14 Disease_Ontology DOID:0081157 DOID:0081157 dilated cardiomyopathy 1LL Disease_Ontology DOID:0081158 DOID:0081158 dilated cardiomyopathy 1MM Disease_Ontology DOID:0081159 DOID:0081159 dilated cardiomyopathy 2C Disease_Ontology DOID:0081160 DOID:0081160 dilated cardiomyopathy 2D Disease_Ontology DOID:0081161 DOID:0081161 dilated cardiomyopathy 2E Disease_Ontology DOID:0081162 DOID:0081162 dilated cardiomyopathy 2F Disease_Ontology DOID:0081163 DOID:0081163 dilated cardiomyopathy 2G Disease_Ontology DOID:0081168 DOID:0081168 HMG-CoA synthase 2 deficiency Disease_Ontology DOID:0081169 DOID:0081169 Leber congenital amaurosis 19 Disease_Ontology DOID:0081175 DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies Disease_Ontology DOID:0081176 DOID:0081176 hypotonia, ataxia, and delayed development syndrome Disease_Ontology DOID:0081177 DOID:0081177 autosomal recessive intellectual developmental disorder 1 Disease_Ontology DOID:0081178 DOID:0081178 autosomal recessive intellectual developmental disorder 2 Disease_Ontology DOID:0081179 DOID:0081179 autosomal recessive intellectual developmental disorder 3 Disease_Ontology DOID:0081180 DOID:0081180 autosomal recessive intellectual developmental disorder 12 Disease_Ontology DOID:0081181 DOID:0081181 autosomal recessive intellectual developmental disorder 5 Disease_Ontology DOID:0081182 DOID:0081182 autosomal recessive intellectual developmental disorder 6 Disease_Ontology DOID:0081183 DOID:0081183 autosomal recessive intellectual developmental disorder 7 Disease_Ontology DOID:0081184 DOID:0081184 autosomal recessive intellectual developmental disorder 9/26 Disease_Ontology DOID:0081185 DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 Disease_Ontology DOID:0081186 DOID:0081186 autosomal recessive intellectual developmental disorder 11 Disease_Ontology DOID:0081187 DOID:0081187 autosomal recessive intellectual developmental disorder 4 Disease_Ontology DOID:0081188 DOID:0081188 autosomal recessive intellectual developmental disorder 14 Disease_Ontology DOID:0081189 DOID:0081189 autosomal recessive intellectual developmental disorder 16 Disease_Ontology DOID:0081190 DOID:0081190 autosomal recessive intellectual developmental disorder 18 Disease_Ontology DOID:0081191 DOID:0081191 autosomal recessive intellectual developmental disorder 31 Disease_Ontology DOID:0081192 DOID:0081192 autosomal recessive intellectual developmental disorder 29 Disease_Ontology DOID:0081193 DOID:0081193 autosomal recessive intellectual developmental disorder 27 Disease_Ontology DOID:0081194 DOID:0081194 autosomal recessive intellectual developmental disorder 33 Disease_Ontology DOID:0081195 DOID:0081195 autosomal recessive intellectual developmental disorder 30 Disease_Ontology DOID:0081196 DOID:0081196 autosomal recessive intellectual developmental disorder 23 Disease_Ontology DOID:0081197 DOID:0081197 autosomal recessive intellectual developmental disorder 24 Disease_Ontology DOID:0081198 DOID:0081198 autosomal recessive intellectual developmental disorder 25 Disease_Ontology DOID:0081199 DOID:0081199 autosomal recessive intellectual developmental disorder 28 Disease_Ontology DOID:0081200 DOID:0081200 autosomal recessive intellectual developmental disorder 34 Disease_Ontology DOID:0081201 DOID:0081201 autosomal recessive intellectual developmental disorder 35 Disease_Ontology DOID:0081202 DOID:0081202 autosomal recessive intellectual developmental disorder 37 Disease_Ontology DOID:0081203 DOID:0081203 autosomal recessive intellectual developmental disorder 38 Disease_Ontology DOID:0081204 DOID:0081204 autosomal recessive intellectual developmental disorder 39 Disease_Ontology DOID:0081205 DOID:0081205 autosomal recessive intellectual developmental disorder 40 Disease_Ontology DOID:0081206 DOID:0081206 autosomal recessive intellectual developmental disorder 41 Disease_Ontology DOID:0081207 DOID:0081207 autosomal recessive intellectual developmental disorder 43 Disease_Ontology DOID:0081208 DOID:0081208 autosomal recessive intellectual developmental disorder 44 Disease_Ontology DOID:0081209 DOID:0081209 autosomal recessive intellectual developmental disorder 45 Disease_Ontology DOID:0081210 DOID:0081210 autosomal recessive intellectual developmental disorder 46 Disease_Ontology DOID:0081211 DOID:0081211 autosomal recessive intellectual developmental disorder 47 Disease_Ontology DOID:0081212 DOID:0081212 autosomal recessive intellectual developmental disorder 48 Disease_Ontology DOID:0081213 DOID:0081213 autosomal recessive intellectual developmental disorder 50 Disease_Ontology DOID:0081214 DOID:0081214 autosomal recessive intellectual developmental disorder 51 Disease_Ontology DOID:0081215 DOID:0081215 autosomal recessive intellectual developmental disorder 52 Disease_Ontology DOID:0081216 DOID:0081216 autosomal recessive intellectual developmental disorder 54 Disease_Ontology DOID:0081217 DOID:0081217 autosomal recessive intellectual developmental disorder 56 Disease_Ontology DOID:0081218 DOID:0081218 autosomal recessive intellectual developmental disorder 74 Disease_Ontology DOID:0081219 DOID:0081219 autosomal recessive intellectual developmental disorder 57 Disease_Ontology DOID:0081220 DOID:0081220 autosomal recessive intellectual developmental disorder 58 Disease_Ontology DOID:0081221 DOID:0081221 autosomal recessive intellectual developmental disorder 59 Disease_Ontology DOID:0081222 DOID:0081222 autosomal recessive intellectual developmental disorder 60 Disease_Ontology DOID:0081223 DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 Disease_Ontology DOID:0081224 DOID:0081224 autosomal recessive intellectual developmental disorder 63 Disease_Ontology DOID:0081225 DOID:0081225 autosomal recessive intellectual developmental disorder 64 Disease_Ontology DOID:0081226 DOID:0081226 autosomal recessive intellectual developmental disorder 65 Disease_Ontology DOID:0081227 DOID:0081227 autosomal recessive intellectual developmental disorder 66 Disease_Ontology DOID:0081228 DOID:0081228 autosomal recessive intellectual developmental disorder 67 Disease_Ontology DOID:0081229 DOID:0081229 autosomal recessive intellectual developmental disorder 68 Disease_Ontology DOID:0081230 DOID:0081230 autosomal recessive intellectual developmental disorder 69 Disease_Ontology DOID:0081231 DOID:0081231 autosomal recessive intellectual developmental disorder 70 Disease_Ontology DOID:0081232 DOID:0081232 autosomal recessive intellectual developmental disorder 71 Disease_Ontology DOID:0081233 DOID:0081233 autosomal recessive intellectual developmental disorder 73 Disease_Ontology DOID:0081234 DOID:0081234 autosomal recessive intellectual developmental disorder 75 Disease_Ontology DOID:0081235 DOID:0081235 autosomal recessive intellectual developmental disorder 76 Disease_Ontology DOID:0081236 DOID:0081236 autosomal recessive intellectual developmental disorder 77 Disease_Ontology DOID:0081237 DOID:0081237 acromesomelic dysplasia 3 Disease_Ontology DOID:0081238 DOID:0081238 acromesomelic dysplasia 4 Disease_Ontology DOID:0081239 DOID:0081239 injection anthrax Disease_Ontology DOID:0081240 DOID:0081240 peroxisome biogenesis disorder 1B Disease_Ontology DOID:0081241 DOID:0081241 peroxisome biogenesis disorder 3B Disease_Ontology DOID:0081242 DOID:0081242 autoimmune interstitial lung, joint, and kidney disease Disease_Ontology DOID:0081243 DOID:0081243 rhizomelic chondrodysplasia punctate type 4 Disease_Ontology DOID:0081244 DOID:0081244 pituitary blastoma Disease_Ontology DOID:0081245 DOID:0081245 cauda equina neuroendocrine tumor Disease_Ontology DOID:0081246 DOID:0081246 teratoma with somatic-type malignancy Disease_Ontology DOID:0081247 DOID:0081247 dedifferentiated chondrosarcoma Disease_Ontology DOID:0081248 DOID:0081248 pineocytoma Disease_Ontology DOID:0081249 DOID:0081249 EWSR1-negative small round cell tumor Disease_Ontology DOID:0081250 DOID:0081250 CIC-rearranged sarcoma Disease_Ontology DOID:0081251 DOID:0081251 papillary tumor of the pineal region Disease_Ontology DOID:0081252 DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive Disease_Ontology DOID:0081253 DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive Disease_Ontology DOID:0081254 DOID:0081254 posterior fossa group A ependymoma Disease_Ontology DOID:0081255 DOID:0081255 posterior fossa group B ependymoma Disease_Ontology DOID:0081256 DOID:0081256 astrocytoma, IDH-mutant, grade 2 Disease_Ontology DOID:0081257 DOID:0081257 astrocytoma, IDH-mutant, grade 3 Disease_Ontology DOID:0081259 DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma Disease_Ontology DOID:0081260 DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered Disease_Ontology DOID:0081261 DOID:0081261 angiocentric glioma Disease_Ontology DOID:0081262 DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies Disease_Ontology DOID:0081263 DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Disease_Ontology DOID:0081264 DOID:0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome Disease_Ontology DOID:0081265 DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Disease_Ontology DOID:0081266 DOID:0081266 complex cortical dysplasia with other brain malformations 15 Disease_Ontology DOID:0081267 DOID:0081267 graft-versus-host disease Disease_Ontology DOID:0081268 DOID:0081268 pulmonary venoocclusive disease 1 Disease_Ontology DOID:0081269 DOID:0081269 pulmonary venoocclusive disease 2 Disease_Ontology DOID:0081270 DOID:0081270 Smith-McCort dysplasia 1 Disease_Ontology DOID:0081271 DOID:0081271 Smith-McCort dysplasia 2 Disease_Ontology DOID:0081272 DOID:0081272 Sandestig-Stefanova syndrome Disease_Ontology DOID:0081273 DOID:0081273 Siddiqi syndrome Disease_Ontology DOID:0081274 DOID:0081274 peroxisome biogenesis disorder 14B Disease_Ontology DOID:0081275 DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia Disease_Ontology DOID:0081276 DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation Disease_Ontology DOID:0081277 DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Disease_Ontology DOID:0081278 DOID:0081278 infant-type hemispheric glioma Disease_Ontology DOID:0081279 DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered Disease_Ontology DOID:0081280 DOID:0081280 pituicytoma Disease_Ontology DOID:0081281 DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 Disease_Ontology DOID:0081282 DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 Disease_Ontology DOID:0081283 DOID:0081283 papillary glioneuronal tumor Disease_Ontology DOID:0081284 DOID:0081284 rosette-forming glioneuronal tumor Disease_Ontology DOID:0081285 DOID:0081285 myxoid glioneuronal tumor Disease_Ontology DOID:0081286 DOID:0081286 embryonal tumor with multilayered rosettes Disease_Ontology DOID:0081287 DOID:0081287 white sponge nevus 1 Disease_Ontology DOID:0081288 DOID:0081288 white sponge nevus 2 Disease_Ontology DOID:0081289 DOID:0081289 Antley-Bixler syndrome Disease_Ontology DOID:0081290 DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis Disease_Ontology DOID:0081291 DOID:0081291 chronic traumatic encephalopathy Disease_Ontology DOID:0081292 DOID:0081292 traumatic brain injury Disease_Ontology DOID:0081293 DOID:0081293 salivary gland mucoepidermoid carcinoma Disease_Ontology DOID:0081294 DOID:0081294 neuronal intranuclear inclusion disease Disease_Ontology DOID:0081295 DOID:0081295 essential tremor 6 Disease_Ontology DOID:0081296 DOID:0081296 oculopharyngodistal myopathy Disease_Ontology DOID:0081297 DOID:0081297 oculopharyngodistal myopathy 1 Disease_Ontology DOID:0081298 DOID:0081298 oculopharyngodistal myopathy 2 Disease_Ontology DOID:0081299 DOID:0081299 oculopharyngodistal myopathy 3 Disease_Ontology DOID:0081300 DOID:0081300 oculopharyngodistal myopathy 4 Disease_Ontology DOID:0081301 DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features Disease_Ontology DOID:0081302 DOID:0081302 diffuse leptomeningeal glioneuronal tumor Disease_Ontology DOID:0081303 DOID:0081303 multinodular and vacuolating neuronal tumor Disease_Ontology DOID:0081304 DOID:0081304 high-grade astrocytoma with piloid features Disease_Ontology DOID:0081305 DOID:0081305 polymorphous low grade neuroepithelial tumour of the young Disease_Ontology DOID:0081306 DOID:0081306 spindle cell oncocytoma Disease_Ontology DOID:0081307 DOID:0081307 lymphomatoid granulomatosis Disease_Ontology DOID:0081308 DOID:0081308 grade I lymphomatoid granulomatosis Disease_Ontology DOID:0081309 DOID:0081309 grade II lymphomatoid granulomatosis Disease_Ontology DOID:0081310 DOID:0081310 grade III lymphomatoid granulomatosis Disease_Ontology DOID:0081311 DOID:0081311 intravascular large B-cell lymphoma Disease_Ontology DOID:0081312 DOID:0081312 T-cell non-Hodgkin lymphoma Disease_Ontology DOID:0081313 DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system Disease_Ontology DOID:0081314 DOID:0081314 extraventricular neurocytoma Disease_Ontology DOID:0081315 DOID:0081315 central nervous system tumor with BCOR internal tandem duplication Disease_Ontology DOID:0081316 DOID:0081316 primary intracranial sarcoma, DICER1-mutant Disease_Ontology DOID:0081317 DOID:0081317 multiple synostoses syndrome 1 Disease_Ontology DOID:0081318 DOID:0081318 multiple synostoses syndrome 2 Disease_Ontology DOID:0081319 DOID:0081319 multiple synostoses syndrome 3 Disease_Ontology DOID:0081320 DOID:0081320 multiple synostoses syndrome 4 Disease_Ontology DOID:0081321 DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Disease_Ontology DOID:0081322 DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B Disease_Ontology DOID:0081323 DOID:0081323 breast implant illness Disease_Ontology DOID:0081324 DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss Disease_Ontology DOID:0081325 DOID:0081325 developmental and epileptic encephalopathy 94 Disease_Ontology DOID:0081326 DOID:0081326 oxoglutarate dehydrogenase deficiency Disease_Ontology DOID:0081327 DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Disease_Ontology DOID:0081328 DOID:0081328 familial hyperinsulinemic hypoglycemia 8 Disease_Ontology DOID:0081329 DOID:0081329 glycogen storage disease I Disease_Ontology DOID:0081330 DOID:0081330 glycogen storage disease Ib Disease_Ontology DOID:0081331 DOID:0081331 glycogen storage disease Ic Disease_Ontology DOID:0081332 DOID:0081332 progeroid syndrome Disease_Ontology DOID:0081333 DOID:0081333 Wiedemann-Rautenstrauch syndrome Disease_Ontology DOID:0081334 DOID:0081334 Nestor-Guillermo progeria syndrome Disease_Ontology DOID:0081335 DOID:0081335 Becker disease Disease_Ontology DOID:0081336 DOID:0081336 Thomsen disease Disease_Ontology DOID:0081337 DOID:0081337 congenital myopathy Disease_Ontology DOID:0081338 DOID:0081338 myofibrillar myopathy 11 Disease_Ontology DOID:0081339 DOID:0081339 congenital myopathy 2B Disease_Ontology DOID:0081340 DOID:0081340 congenital myopathy 2C Disease_Ontology DOID:0081341 DOID:0081341 congenital myopathy 5 Disease_Ontology DOID:0081342 DOID:0081342 congenital myopathy 8 Disease_Ontology DOID:0081343 DOID:0081343 congenital myopathy 9A Disease_Ontology DOID:0081344 DOID:0081344 congenital myopathy 9B Disease_Ontology DOID:0081345 DOID:0081345 congenital myopathy 10B Disease_Ontology DOID:0081346 DOID:0081346 congenital myopathy 14 Disease_Ontology DOID:0081347 DOID:0081347 congenital myopathy 15 Disease_Ontology DOID:0081348 DOID:0081348 congenital myopathy 16 Disease_Ontology DOID:0081349 DOID:0081349 congenital myopathy 17 Disease_Ontology DOID:0081350 DOID:0081350 congenital myopathy 18 Disease_Ontology DOID:0081351 DOID:0081351 congenital myopathy 19 Disease_Ontology DOID:0081352 DOID:0081352 congenital myopathy 20 Disease_Ontology DOID:0081353 DOID:0081353 congenital myopathy 21 Disease_Ontology DOID:0081354 DOID:0081354 congenital myopathy 22A Disease_Ontology DOID:0081355 DOID:0081355 congenital myopathy 22B Disease_Ontology DOID:0081356 DOID:0081356 spinal muscular atrophy, Jokela type Disease_Ontology DOID:0081357 DOID:0081357 isolated mitochondrial myopathy Disease_Ontology DOID:0081358 DOID:0081358 epidermolytic hyperkeratosis 1 Disease_Ontology DOID:0081359 DOID:0081359 epidermolytic hyperkeratosis 2 Disease_Ontology DOID:0081360 DOID:0081360 spastic quadriplegic cerebral palsy 2 Disease_Ontology DOID:0081361 DOID:0081361 spastic quadriplegic cerebral palsy 3 Disease_Ontology DOID:0081362 DOID:0081362 Pierpont syndrome Disease_Ontology DOID:0081363 DOID:0081363 distal myopathy with rimmed vacuoles Disease_Ontology DOID:0081364 DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Disease_Ontology DOID:0081365 DOID:0081365 Paget disease of bone 2 Disease_Ontology DOID:0081366 DOID:0081366 Paget disease of bone 3 Disease_Ontology DOID:0081367 DOID:0081367 Paget disease of bone 4 Disease_Ontology DOID:0081368 DOID:0081368 Paget disease of bone 5 Disease_Ontology DOID:0081369 DOID:0081369 Paget disease of bone 6 Disease_Ontology DOID:0081370 DOID:0081370 LADD syndrome Disease_Ontology DOID:0081371 DOID:0081371 lacrimoauriculodentodigital syndrome 2 Disease_Ontology DOID:0081372 DOID:0081372 lacrimoauriculodentodigital syndrome 3 Disease_Ontology DOID:0081373 DOID:0081373 disabling pansclerotic morphea Disease_Ontology DOID:0081374 DOID:0081374 nemaline myopathy 5B Disease_Ontology DOID:0081375 DOID:0081375 nemaline myopathy 5C Disease_Ontology DOID:0081377 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy Disease_Ontology DOID:0081378 DOID:0081378 amyotrophic lateral sclerosis type 24 Disease_Ontology DOID:0081379 DOID:0081379 amyotrophic lateral sclerosis type 25 Disease_Ontology DOID:0081380 DOID:0081380 amyotrophic lateral sclerosis type 26 Disease_Ontology DOID:0081381 DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 Disease_Ontology DOID:0081382 DOID:0081382 amyotrophic lateral sclerosis type 28 Disease_Ontology DOID:0081383 DOID:0081383 ataxia-oculomotor apraxia 4 Disease_Ontology DOID:0081384 DOID:0081384 ataxia-telangiectasia-like disorder 1 Disease_Ontology DOID:0081385 DOID:0081385 ataxia-telangiectasia-like disorder 2 Disease_Ontology DOID:0081386 DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias Disease_Ontology DOID:0081387 DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities Disease_Ontology DOID:0081388 DOID:0081388 primary progressive aphasia Disease_Ontology DOID:0081389 DOID:0081389 logopenic progressive aphasia Disease_Ontology DOID:0081390 DOID:0081390 progressive non-fluent aphasia Disease_Ontology DOID:0081391 DOID:0081391 semantic dementia Disease_Ontology DOID:0081392 DOID:0081392 corticobasal degeneration syndrome Disease_Ontology DOID:0081393 DOID:0081393 organophosphate-induced delayed polyneuropathy Disease_Ontology DOID:0081394 DOID:0081394 Caroli syndrome Disease_Ontology DOID:0081395 DOID:0081395 Harel-Yoon syndrome Disease_Ontology DOID:0081396 DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome Disease_Ontology DOID:0081397 DOID:0081397 Vissers-Bodmer syndrome Disease_Ontology DOID:0081398 DOID:0081398 holoprosencephaly 12 Disease_Ontology DOID:0081399 DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 Disease_Ontology DOID:0081400 DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 Disease_Ontology DOID:0081401 DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 Disease_Ontology DOID:0081402 DOID:0081402 sarcoma with BCOR genetic alterations Disease_Ontology DOID:0081403 DOID:0081403 BCOR ITD sarcoma Disease_Ontology DOID:0081404 DOID:0081404 BCOR-CCNB3 sarcoma Disease_Ontology DOID:0081405 DOID:0081405 childhood sarcoma with BCOR genetic alterations Disease_Ontology DOID:0081406 DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion Disease_Ontology DOID:0081407 DOID:0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion Disease_Ontology DOID:0081408 DOID:0081408 round cell sarcoma with EWSR1-NFATC2 gene fusion Disease_Ontology DOID:0081409 DOID:0081409 round cell sarcoma with EWSR1-PATZ1 gene fusion Disease_Ontology DOID:0081410 DOID:0081410 round cell sarcoma with FUS-NFATC2 gene fusion Disease_Ontology DOID:0081411 DOID:0081411 B-lymphoblastic leukemia with PAX5 p.P80R Disease_Ontology DOID:0081412 DOID:0081412 B-lymphoblastic leukemia with DUX4 rearrangement Disease_Ontology DOID:0081413 DOID:0081413 renal cell carcinoma with MiT translocations Disease_Ontology DOID:0081414 DOID:0081414 TFEB-rearranged renal cell carcinoma Disease_Ontology DOID:0081415 DOID:0081415 TFE3-rearranged renal cell carcinoma Disease_Ontology DOID:0081416 DOID:0081416 childhood renal cell carcinoma with MiT translocations Disease_Ontology DOID:0081417 DOID:0081417 poorly differentiated chordoma Disease_Ontology DOID:0081418 DOID:0081418 anaplastic sarcoma of the kidney Disease_Ontology DOID:0081419 DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Disease_Ontology DOID:0081420 DOID:0081420 familial focal epilepsy with variable foci Disease_Ontology DOID:0081421 DOID:0081421 familial focal epilepsy with variable foci 1 Disease_Ontology DOID:0081422 DOID:0081422 familial focal epilepsy with variable foci 2 Disease_Ontology DOID:0081423 DOID:0081423 familial focal epilepsy with variable foci 3 Disease_Ontology DOID:0081424 DOID:0081424 familial focal epilepsy with variable foci 4 Disease_Ontology DOID:0081425 DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 Disease_Ontology DOID:0081426 DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 Disease_Ontology DOID:0081427 DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 Disease_Ontology DOID:0081428 DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 Disease_Ontology DOID:0081429 DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 Disease_Ontology DOID:0081430 DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures Disease_Ontology DOID:0081431 DOID:0081431 microcephaly, short stature, and limb abnormalities Disease_Ontology DOID:0081432 DOID:0081432 microcephaly-micromelia syndrome Disease_Ontology DOID:0081433 DOID:0081433 Peroxisome biogenesis disorder 4B Disease_Ontology DOID:0081434 DOID:0081434 Peroxisome biogenesis disorder 5B Disease_Ontology DOID:0081435 DOID:0081435 Peroxisome biogenesis disorder 6B Disease_Ontology DOID:0081436 DOID:0081436 Peroxisome biogenesis disorder 7B Disease_Ontology DOID:0081437 DOID:0081437 Peroxisome biogenesis disorder 8B Disease_Ontology DOID:0081438 DOID:0081438 Peroxisome biogenesis disorder 9B Disease_Ontology DOID:0081439 DOID:0081439 Peroxisome biogenesis disorder 11B Disease_Ontology DOID:0081440 DOID:0081440 Peroxisome biogenesis disorder 10B Disease_Ontology DOID:0081441 DOID:0081441 Nicolaides-Baraitser syndrome Disease_Ontology DOID:0081442 DOID:0081442 blepharophimosis-impaired intellectual development syndrome Disease_Ontology DOID:0081443 DOID:0081443 Stolerman neurodevelopmental syndrome Disease_Ontology DOID:0081444 DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities Disease_Ontology DOID:0081445 DOID:0081445 sickle cell disease Disease_Ontology DOID:0081446 DOID:0081446 dimethylglycine dehydrogenase deficiency Disease_Ontology DOID:0081447 DOID:0081447 cone-rod dystrophy 21 Disease_Ontology DOID:0081448 DOID:0081448 cone-rod dystrophy 22 Disease_Ontology DOID:0081449 DOID:0081449 cone-rod dystrophy 24 Disease_Ontology DOID:0081450 DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome Disease_Ontology DOID:0081451 DOID:0081451 PFAPA syndrome Disease_Ontology DOID:0081452 DOID:0081452 large B-cell lymphoma Disease_Ontology DOID:0081453 DOID:0081453 Dent disease 1 Disease_Ontology DOID:0081454 DOID:0081454 Dent disease 2 Disease_Ontology DOID:0081455 DOID:0081455 auto-brewery syndrome Disease_Ontology DOID:0081456 DOID:0081456 bladder fermentation syndrome Disease_Ontology DOID:0081457 DOID:0081457 intrathyroid thymic carcinoma Disease_Ontology DOID:0081458 DOID:0081458 thyroid gland cribriform morular carcinoma Disease_Ontology DOID:0081459 DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma Disease_Ontology DOID:0081460 DOID:0081460 thyroid gland mucinous carcinoma Disease_Ontology DOID:0081461 DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements Disease_Ontology DOID:0081462 DOID:0081462 Zeitz-Han retinal dystrophy Disease_Ontology DOID:0081463 DOID:0081463 recurrent respiratory papillomatosis Disease_Ontology DOID:0090001 DOID:0090001 Fraser syndrome Disease_Ontology DOID:0090002 DOID:0090002 Tietz syndrome Disease_Ontology DOID:0090003 DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy Disease_Ontology DOID:0090004 DOID:0090004 progressive pseudorheumatoid arthropathy of childhood Disease_Ontology DOID:0090005 DOID:0090005 Schwartz-Jampel syndrome 1 Disease_Ontology DOID:0090006 DOID:0090006 renal coloboma syndrome Disease_Ontology DOID:0090007 DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome Disease_Ontology DOID:0090008 DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 Disease_Ontology DOID:0090009 DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 Disease_Ontology DOID:0090010 DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 Disease_Ontology DOID:0090011 DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 Disease_Ontology DOID:0090012 DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation Disease_Ontology DOID:0090013 DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive Disease_Ontology DOID:0090014 DOID:0090014 severe combined immunodeficiency 104 Disease_Ontology DOID:0090015 DOID:0090015 Cenani-Lenz syndactyly syndrome Disease_Ontology DOID:0090016 DOID:0090016 chromosome 5q deletion syndrome Disease_Ontology DOID:0090017 DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy Disease_Ontology DOID:0090018 DOID:0090018 TNF receptor–associated periodic syndrome Disease_Ontology DOID:0090019 DOID:0090019 sitosterolemia Disease_Ontology DOID:0090020 DOID:0090020 split hand-foot malformation Disease_Ontology DOID:0090021 DOID:0090021 split hand-foot malformation 1 Disease_Ontology DOID:0090022 DOID:0090022 split hand-foot malformation 5 Disease_Ontology DOID:0090023 DOID:0090023 split hand-foot malformation 4 Disease_Ontology DOID:0090024 DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss Disease_Ontology DOID:0090025 DOID:0090025 split hand-foot malformation 3 Disease_Ontology DOID:0090026 DOID:0090026 split hand-foot malformation 6 Disease_Ontology DOID:0090027 DOID:0090027 split hand-foot malformation 2 Disease_Ontology DOID:0090028 DOID:0090028 familial isolated deficiency of vitamin E Disease_Ontology DOID:0090029 DOID:0090029 CINCA Syndrome Disease_Ontology DOID:0090030 DOID:0090030 corticosteroid-binding globulin deficiency Disease_Ontology DOID:0090031 DOID:0090031 D-bifunctional protein deficiency Disease_Ontology DOID:0090032 DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia Disease_Ontology DOID:0090033 DOID:0090033 myoclonic dystonia Disease_Ontology DOID:0090034 DOID:0090034 myoclonic dystonia 11 Disease_Ontology DOID:0090035 DOID:0090035 myoclonic dystonia 15 Disease_Ontology DOID:0090036 DOID:0090036 myoclonic dystonia 26 Disease_Ontology DOID:0090037 DOID:0090037 torsion dystonia 13 Disease_Ontology DOID:0090038 DOID:0090038 torsion dystonia 2 Disease_Ontology DOID:0090039 DOID:0090039 torsion dystonia 6 Disease_Ontology DOID:0090040 DOID:0090040 torsion dystonia 7 Disease_Ontology DOID:0090041 DOID:0090041 torsion dystonia 4 Disease_Ontology DOID:0090042 DOID:0090042 torsion dystonia 17 Disease_Ontology DOID:0090043 DOID:0090043 dopa-responsive dystonia Disease_Ontology DOID:0090044 DOID:0090044 dystonia 9 Disease_Ontology DOID:0090045 DOID:0090045 glucose transporter type 1 deficiency syndrome 2 Disease_Ontology DOID:0090046 DOID:0090046 dystonia 21 Disease_Ontology DOID:0090047 DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 Disease_Ontology DOID:0090048 DOID:0090048 dystonia 16 Disease_Ontology DOID:0090049 DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 Disease_Ontology DOID:0090050 DOID:0090050 dystonia 27 Disease_Ontology DOID:0090051 DOID:0090051 dystonia 23 Disease_Ontology DOID:0090052 DOID:0090052 dystonia 24 Disease_Ontology DOID:0090053 DOID:0090053 episodic kinesigenic dyskinesia 1 Disease_Ontology DOID:0090054 DOID:0090054 episodic kinesigenic dyskinesia 2 Disease_Ontology DOID:0090055 DOID:0090055 dystonia 25 Disease_Ontology DOID:0090056 DOID:0090056 dystonia 12 Disease_Ontology DOID:0090057 DOID:0090057 X-linked dystonia-parkinsonism Disease_Ontology DOID:0090058 DOID:0090058 torsion dystonia with onset in infancy Disease_Ontology DOID:0090059 DOID:0090059 enhanced S-cone syndrome Disease_Ontology DOID:0090060 DOID:0090060 Wolcott-Rallison syndrome Disease_Ontology DOID:0090061 DOID:0090061 familial cold autoinflammatory syndrome Disease_Ontology DOID:0090062 DOID:0090062 familial cold autoinflammatory syndrome 1 Disease_Ontology DOID:0090063 DOID:0090063 familial cold autoinflammatory syndrome 2 Disease_Ontology DOID:0090064 DOID:0090064 familial cold autoinflammatory syndrome 3 Disease_Ontology DOID:0090065 DOID:0090065 familial cold autoinflammatory syndrome 4 Disease_Ontology DOID:0090066 DOID:0090066 Fanconi-like syndrome Disease_Ontology DOID:0090067 DOID:0090067 Fuhrmann syndrome Disease_Ontology DOID:0090068 DOID:0090068 giant axonal neuropathy 1 Disease_Ontology DOID:0090069 DOID:0090069 giant axonal neuropathy 2 Disease_Ontology DOID:0090070 DOID:0090070 hypogonadotropic hypogonadism Disease_Ontology DOID:0090071 DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia Disease_Ontology DOID:0090072 DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia Disease_Ontology DOID:0090073 DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia Disease_Ontology DOID:0090074 DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia Disease_Ontology DOID:0090075 DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia Disease_Ontology DOID:0090076 DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia Disease_Ontology DOID:0090077 DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia Disease_Ontology DOID:0090078 DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia Disease_Ontology DOID:0090079 DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia Disease_Ontology DOID:0090080 DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia Disease_Ontology DOID:0090081 DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia Disease_Ontology DOID:0090082 DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia Disease_Ontology DOID:0090083 DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia Disease_Ontology DOID:0090084 DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia Disease_Ontology DOID:0090085 DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia Disease_Ontology DOID:0090086 DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia Disease_Ontology DOID:0090087 DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia Disease_Ontology DOID:0090088 DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia Disease_Ontology DOID:0090089 DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia Disease_Ontology DOID:0090090 DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia Disease_Ontology DOID:0090091 DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia Disease_Ontology DOID:0090092 DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia Disease_Ontology DOID:0090093 DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia Disease_Ontology DOID:0090094 DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia Disease_Ontology DOID:0090100 DOID:0090100 ocular albinism with sensorineural deafness Disease_Ontology DOID:0090101 DOID:0090101 lethal congenital glycogen storage disease of heart Disease_Ontology DOID:0090102 DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 Disease_Ontology DOID:0090103 DOID:0090103 Huntington's disease-like 1 Disease_Ontology DOID:0090104 DOID:0090104 Huntington's disease-like 2 Disease_Ontology DOID:0090105 DOID:0090105 autosomal recessive hypercholesterolemia Disease_Ontology DOID:0090106 DOID:0090106 BH4-deficient hyperphenylalaninemia A Disease_Ontology DOID:0090107 DOID:0090107 autosomal dominant hypocalcemia 1 Disease_Ontology DOID:0090108 DOID:0090108 autosomal dominant hypocalcemia 2 Disease_Ontology DOID:0090109 DOID:0090109 autosomal dominant hypocalcemia Disease_Ontology DOID:0090110 DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Disease_Ontology DOID:0090111 DOID:0090111 PCWH syndrome Disease_Ontology DOID:0090112 DOID:0090112 Nasu-Hakola disease Disease_Ontology DOID:0090113 DOID:0090113 RIDDLE syndrome Disease_Ontology DOID:0090114 DOID:0090114 Sorsby's fundus dystrophy Disease_Ontology DOID:0090115 DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 Disease_Ontology DOID:0090116 DOID:0090116 spondylocarpotarsal synostosis syndrome Disease_Ontology DOID:0090117 DOID:0090117 thiamine-responsive megaloblastic anemia syndrome Disease_Ontology DOID:0090118 DOID:0090118 congenital amegakaryocytic thrombocytopenia Disease_Ontology DOID:0090119 DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Disease_Ontology DOID:0090120 DOID:0090120 hereditary neutrophilia Disease_Ontology DOID:0090122 DOID:0090122 aromatase excess syndrome Disease_Ontology DOID:0090123 DOID:0090123 aromatic L-amino acid decarboxylase deficiency Disease_Ontology DOID:0090124 DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 Disease_Ontology DOID:0090125 DOID:0090125 brain small vessel disease 1 Disease_Ontology DOID:0090126 DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency Disease_Ontology DOID:0090127 DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome Disease_Ontology DOID:0090128 DOID:0090128 Carvajal syndrome Disease_Ontology DOID:0090129 DOID:0090129 carnitine palmitoyltransferase I deficiency Disease_Ontology DOID:0090130 DOID:0090130 cortical dysplasia-focal epilepsy syndrome Disease_Ontology DOID:0090131 DOID:0090131 complex cortical dysplasia with other brain malformations Disease_Ontology DOID:0090132 DOID:0090132 complex cortical dysplasia with other brain malformations 7 Disease_Ontology DOID:0090133 DOID:0090133 complex cortical dysplasia with other brain malformations 2 Disease_Ontology DOID:0090134 DOID:0090134 complex cortical dysplasia with other brain malformations 3 Disease_Ontology DOID:0090135 DOID:0090135 complex cortical dysplasia with other brain malformations 5 Disease_Ontology DOID:0090136 DOID:0090136 complex cortical dysplasia with other brain malformations 6 Disease_Ontology DOID:0090137 DOID:0090137 complex cortical dysplasia with other brain malformations 1 Disease_Ontology DOID:0090138 DOID:0090138 complex cortical dysplasia with other brain malformations 4 Disease_Ontology DOID:0090139 DOID:0090139 cortisone reductase deficiency Disease_Ontology DOID:0090140 DOID:0090140 cortisone reductase deficiency 2 Disease_Ontology DOID:0090141 DOID:0090141 cortisone reductase deficiency 1 Disease_Ontology DOID:0090142 DOID:0090142 cystathioninuria Disease_Ontology DOID:0090143 DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome Disease_Ontology DOID:0090144 DOID:0090144 Donnai-Barrow syndrome Disease_Ontology DOID:0090145 DOID:0090145 dopamine beta-hydroxylase deficiency Disease_Ontology DOID:0110000 DOID:0110000 3-methylglutaconic aciduria type 5 Disease_Ontology DOID:0110001 DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Disease_Ontology DOID:0110002 DOID:0110002 3-methylglutaconic aciduria type 1 Disease_Ontology DOID:0110003 DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia Disease_Ontology DOID:0110004 DOID:0110004 3-methylglutaconic aciduria type 3 Disease_Ontology DOID:0110005 DOID:0110005 Leber congenital amaurosis 9 Disease_Ontology DOID:0110006 DOID:0110006 3-methylglutaconic aciduria type 4 Disease_Ontology DOID:0110007 DOID:0110007 achromatopsia 2 Disease_Ontology DOID:0110008 DOID:0110008 achromatopsia 3 Disease_Ontology DOID:0110009 DOID:0110009 achromatopsia 7 Disease_Ontology DOID:0110010 DOID:0110010 achromatopsia 4 Disease_Ontology DOID:0110011 DOID:0110011 advanced sleep phase syndrome 1 Disease_Ontology DOID:0110012 DOID:0110012 advanced sleep phase syndrome 2 Disease_Ontology DOID:0110013 DOID:0110013 advanced sleep phase syndrome 3 Disease_Ontology DOID:0110014 DOID:0110014 age related macular degeneration 1 Disease_Ontology DOID:0110015 DOID:0110015 age related macular degeneration 2 Disease_Ontology DOID:0110016 DOID:0110016 Leber congenital amaurosis 2 Disease_Ontology DOID:0110017 DOID:0110017 age related macular degeneration 4 Disease_Ontology DOID:0110018 DOID:0110018 age related macular degeneration 6 Disease_Ontology DOID:0110019 DOID:0110019 age related macular degeneration 7 Disease_Ontology DOID:0110020 DOID:0110020 age related macular degeneration 8 Disease_Ontology DOID:0110021 DOID:0110021 age related macular degeneration 9 Disease_Ontology DOID:0110022 DOID:0110022 age related macular degeneration 10 Disease_Ontology DOID:0110023 DOID:0110023 age related macular degeneration 11 Disease_Ontology DOID:0110024 DOID:0110024 age related macular degeneration 12 Disease_Ontology DOID:0110025 DOID:0110025 age related macular degeneration 13 Disease_Ontology DOID:0110026 DOID:0110026 age related macular degeneration 14 Disease_Ontology DOID:0110027 DOID:0110027 age related macular degeneration 15 Disease_Ontology DOID:0110028 DOID:0110028 age related macular degeneration 5 Disease_Ontology DOID:0110029 DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 Disease_Ontology DOID:0110030 DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome Disease_Ontology DOID:0110031 DOID:0110031 hemoglobin H disease Disease_Ontology DOID:0110032 DOID:0110032 Alport syndrome 3A Disease_Ontology DOID:0110033 DOID:0110033 Alport syndrome 2 Disease_Ontology DOID:0110034 DOID:0110034 X-linked Alport syndrome Disease_Ontology DOID:0110035 DOID:0110035 Alzheimer's disease 2 Disease_Ontology DOID:0110036 DOID:0110036 Alzheimer's disease 16 Disease_Ontology DOID:0110037 DOID:0110037 Alzheimer's disease 5 Disease_Ontology DOID:0110038 DOID:0110038 Alzheimer's disease 6 Disease_Ontology DOID:0110039 DOID:0110039 Alzheimer's disease 7 Disease_Ontology DOID:0110040 DOID:0110040 Alzheimer's disease 4 Disease_Ontology DOID:0110041 DOID:0110041 Alzheimer's disease 8 Disease_Ontology DOID:0110042 DOID:0110042 Alzheimer's disease 3 Disease_Ontology DOID:0110043 DOID:0110043 Alzheimer's disease 10 Disease_Ontology DOID:0110044 DOID:0110044 Alzheimer's disease 11 Disease_Ontology DOID:0110045 DOID:0110045 Alzheimer's disease 12 Disease_Ontology DOID:0110046 DOID:0110046 Alzheimer's disease 13 Disease_Ontology DOID:0110047 DOID:0110047 Alzheimer's disease 14 Disease_Ontology DOID:0110048 DOID:0110048 Alzheimer's disease 15 Disease_Ontology DOID:0110049 DOID:0110049 Alzheimer's disease 17 Disease_Ontology DOID:0110050 DOID:0110050 Alzheimer's disease 18 Disease_Ontology DOID:0110052 DOID:0110052 amelogenesis imperfecta type 1B Disease_Ontology DOID:0110053 DOID:0110053 amelogenesis imperfecta type 4 Disease_Ontology DOID:0110054 DOID:0110054 amelogenesis imperfecta type 1A Disease_Ontology DOID:0110055 DOID:0110055 amelogenesis imperfecta type 3A Disease_Ontology DOID:0110056 DOID:0110056 amelogenesis imperfecta type 1C Disease_Ontology DOID:0110057 DOID:0110057 amelogenesis imperfecta type 2A1 Disease_Ontology DOID:0110058 DOID:0110058 amelogenesis imperfecta type 1E Disease_Ontology DOID:0110059 DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 Disease_Ontology DOID:0110060 DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 Disease_Ontology DOID:0110061 DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 Disease_Ontology DOID:0110062 DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 Disease_Ontology DOID:0110063 DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 Disease_Ontology DOID:0110064 DOID:0110064 amelogenesis imperfecta type 1H Disease_Ontology DOID:0110065 DOID:0110065 amelogenesis imperfecta type 1F Disease_Ontology DOID:0110066 DOID:0110066 amelogenesis imperfecta type 1G Disease_Ontology DOID:0110067 DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia Disease_Ontology DOID:0110068 DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Disease_Ontology DOID:0110069 DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Disease_Ontology DOID:0110070 DOID:0110070 arrhythmogenic right ventricular dysplasia 1 Disease_Ontology DOID:0110072 DOID:0110072 arrhythmogenic right ventricular dysplasia 3 Disease_Ontology DOID:0110073 DOID:0110073 arrhythmogenic right ventricular dysplasia 4 Disease_Ontology DOID:0110074 DOID:0110074 arrhythmogenic right ventricular dysplasia 5 Disease_Ontology DOID:0110075 DOID:0110075 arrhythmogenic right ventricular dysplasia 6 Disease_Ontology DOID:0110076 DOID:0110076 arrhythmogenic right ventricular dysplasia 8 Disease_Ontology DOID:0110077 DOID:0110077 arrhythmogenic right ventricular dysplasia 9 Disease_Ontology DOID:0110078 DOID:0110078 Leber congenital amaurosis 1 Disease_Ontology DOID:0110079 DOID:0110079 Leber congenital amaurosis 8 Disease_Ontology DOID:0110080 DOID:0110080 Leber congenital amaurosis 12 Disease_Ontology DOID:0110081 DOID:0110081 arrhythmogenic right ventricular dysplasia 10 Disease_Ontology DOID:0110082 DOID:0110082 arrhythmogenic right ventricular dysplasia 11 Disease_Ontology DOID:0110083 DOID:0110083 arrhythmogenic right ventricular dysplasia 12 Disease_Ontology DOID:0110084 DOID:0110084 arrhythmogenic right ventricular dysplasia 13 Disease_Ontology DOID:0110085 DOID:0110085 asphyxiating thoracic dystrophy 1 Disease_Ontology DOID:0110086 DOID:0110086 asphyxiating thoracic dystrophy 2 Disease_Ontology DOID:0110087 DOID:0110087 asphyxiating thoracic dystrophy 3 Disease_Ontology DOID:0110088 DOID:0110088 asphyxiating thoracic dystrophy 4 Disease_Ontology DOID:0110089 DOID:0110089 asphyxiating thoracic dystrophy 5 Disease_Ontology DOID:0110090 DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly Disease_Ontology DOID:0110091 DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly Disease_Ontology DOID:0110092 DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly Disease_Ontology DOID:0110093 DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly Disease_Ontology DOID:0110094 DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly Disease_Ontology DOID:0110095 DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly Disease_Ontology DOID:0110096 DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly Disease_Ontology DOID:0110097 DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly Disease_Ontology DOID:0110098 DOID:0110098 atopic dermatitis 2 Disease_Ontology DOID:0110099 DOID:0110099 atopic dermatitis 3 Disease_Ontology DOID:0110100 DOID:0110100 atopic dermatitis 4 Disease_Ontology DOID:0110101 DOID:0110101 atopic dermatitis 5 Disease_Ontology DOID:0110102 DOID:0110102 atopic dermatitis 6 Disease_Ontology DOID:0110103 DOID:0110103 atopic dermatitis 7 Disease_Ontology DOID:0110104 DOID:0110104 atopic dermatitis 8 Disease_Ontology DOID:0110105 DOID:0110105 atopic dermatitis 9 Disease_Ontology DOID:0110106 DOID:0110106 atrial heart septal defect 1 Disease_Ontology DOID:0110107 DOID:0110107 atrial heart septal defect 2 Disease_Ontology DOID:0110108 DOID:0110108 atrial heart septal defect 3 Disease_Ontology DOID:0110109 DOID:0110109 atrial heart septal defect 4 Disease_Ontology DOID:0110110 DOID:0110110 atrial heart septal defect 5 Disease_Ontology DOID:0110111 DOID:0110111 atrial heart septal defect 6 Disease_Ontology DOID:0110112 DOID:0110112 atrial heart septal defect 7 Disease_Ontology DOID:0110113 DOID:0110113 atrial heart septal defect 8 Disease_Ontology DOID:0110114 DOID:0110114 atrial heart septal defect 9 Disease_Ontology DOID:0110115 DOID:0110115 autoimmune lymphoproliferative syndrome type 2A Disease_Ontology DOID:0110116 DOID:0110116 autoimmune lymphoproliferative syndrome type 2B Disease_Ontology DOID:0110117 DOID:0110117 autoimmune lymphoproliferative syndrome type 4 Disease_Ontology DOID:0110118 DOID:0110118 Leber congenital amaurosis 16 Disease_Ontology DOID:0110119 DOID:0110119 autoimmune lymphoproliferative syndrome type 3 Disease_Ontology DOID:0110120 DOID:0110120 Axenfeld-Rieger syndrome type 1 Disease_Ontology DOID:0110121 DOID:0110121 Axenfeld-Rieger syndrome type 2 Disease_Ontology DOID:0110122 DOID:0110122 Axenfeld-Rieger syndrome type 3 Disease_Ontology DOID:0110123 DOID:0110123 Bardet-Biedl syndrome 1 Disease_Ontology DOID:0110124 DOID:0110124 Bardet-Biedl syndrome 2 Disease_Ontology DOID:0110125 DOID:0110125 Bardet-Biedl syndrome 3 Disease_Ontology DOID:0110126 DOID:0110126 Bardet-Biedl syndrome 4 Disease_Ontology DOID:0110127 DOID:0110127 Bardet-Biedl syndrome 5 Disease_Ontology DOID:0110128 DOID:0110128 Bardet-Biedl syndrome 6 Disease_Ontology DOID:0110129 DOID:0110129 Bardet-Biedl syndrome 7 Disease_Ontology DOID:0110130 DOID:0110130 Bardet-Biedl syndrome 8 Disease_Ontology DOID:0110131 DOID:0110131 Bardet-Biedl syndrome 9 Disease_Ontology DOID:0110132 DOID:0110132 Bardet-Biedl syndrome 10 Disease_Ontology DOID:0110133 DOID:0110133 Bardet-Biedl syndrome 11 Disease_Ontology DOID:0110134 DOID:0110134 Bardet-Biedl syndrome 12 Disease_Ontology DOID:0110135 DOID:0110135 Bardet-Biedl syndrome 13 Disease_Ontology DOID:0110136 DOID:0110136 Bardet-Biedl syndrome 14 Disease_Ontology DOID:0110137 DOID:0110137 Bardet-Biedl syndrome 15 Disease_Ontology DOID:0110138 DOID:0110138 Bardet-Biedl syndrome 16 Disease_Ontology DOID:0110139 DOID:0110139 Bardet-Biedl syndrome 17 Disease_Ontology DOID:0110140 DOID:0110140 Bardet-Biedl syndrome 18 Disease_Ontology DOID:0110141 DOID:0110141 Bardet-Biedl syndrome 19 Disease_Ontology DOID:0110142 DOID:0110142 Bartter disease type 1 Disease_Ontology DOID:0110143 DOID:0110143 Bartter disease type 2 Disease_Ontology DOID:0110144 DOID:0110144 Bartter disease type 3 Disease_Ontology DOID:0110145 DOID:0110145 Bartter disease type 4a Disease_Ontology DOID:0110146 DOID:0110146 Bartter disease type 4b Disease_Ontology DOID:0110147 DOID:0110147 Bartter disease type 5 Disease_Ontology DOID:0110148 DOID:0110148 Charcot-Marie-Tooth disease type 1A Disease_Ontology DOID:0110149 DOID:0110149 Charcot-Marie-Tooth disease type 1F Disease_Ontology DOID:0110150 DOID:0110150 Charcot-Marie-Tooth disease type 1D Disease_Ontology DOID:0110151 DOID:0110151 Charcot-Marie-Tooth disease type 1C Disease_Ontology DOID:0110152 DOID:0110152 Charcot-Marie-Tooth disease type 1B Disease_Ontology DOID:0110153 DOID:0110153 Charcot-Marie-Tooth disease type 1E Disease_Ontology DOID:0110154 DOID:0110154 Charcot-Marie-Tooth disease type 2A1 Disease_Ontology DOID:0110155 DOID:0110155 Charcot-Marie-Tooth disease type 2A2A Disease_Ontology DOID:0110156 DOID:0110156 Charcot-Marie-Tooth disease type 2B1 Disease_Ontology DOID:0110157 DOID:0110157 Charcot-Marie-Tooth disease type 2J Disease_Ontology DOID:0110158 DOID:0110158 Charcot-Marie-Tooth disease type 2I Disease_Ontology DOID:0110159 DOID:0110159 Charcot-Marie-Tooth disease type 2B Disease_Ontology DOID:0110160 DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T Disease_Ontology DOID:0110161 DOID:0110161 Charcot-Marie-Tooth disease type 2R Disease_Ontology DOID:0110162 DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W Disease_Ontology DOID:0110163 DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F Disease_Ontology DOID:0110164 DOID:0110164 Charcot-Marie-Tooth disease type 2D Disease_Ontology DOID:0110165 DOID:0110165 Charcot-Marie-Tooth disease type 2E Disease_Ontology DOID:0110166 DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H Disease_Ontology DOID:0110167 DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K Disease_Ontology DOID:0110168 DOID:0110168 Charcot-Marie-Tooth disease type 2Y Disease_Ontology DOID:0110169 DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P Disease_Ontology DOID:0110170 DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q Disease_Ontology DOID:0110171 DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S Disease_Ontology DOID:0110173 DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U Disease_Ontology DOID:0110174 DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L Disease_Ontology DOID:0110175 DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O Disease_Ontology DOID:0110176 DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X Disease_Ontology DOID:0110177 DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N Disease_Ontology DOID:0110178 DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V Disease_Ontology DOID:0110179 DOID:0110179 Charcot-Marie-Tooth disease type 2B2 Disease_Ontology DOID:0110180 DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC Disease_Ontology DOID:0110181 DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z Disease_Ontology DOID:0110182 DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C Disease_Ontology DOID:0110183 DOID:0110183 Charcot-Marie-Tooth disease type 4C Disease_Ontology DOID:0110184 DOID:0110184 Charcot-Marie-Tooth disease type 4J Disease_Ontology DOID:0110185 DOID:0110185 Charcot-Marie-Tooth disease type 4A Disease_Ontology DOID:0110186 DOID:0110186 Charcot-Marie-Tooth disease type 4D Disease_Ontology DOID:0110187 DOID:0110187 Charcot-Marie-Tooth disease type 4K Disease_Ontology DOID:0110188 DOID:0110188 Leber congenital amaurosis 14 Disease_Ontology DOID:0110189 DOID:0110189 Leber congenital amaurosis 15 Disease_Ontology DOID:0110190 DOID:0110190 Charcot-Marie-Tooth disease type 4B2 Disease_Ontology DOID:0110191 DOID:0110191 Charcot-Marie-Tooth disease type 4B1 Disease_Ontology DOID:0110192 DOID:0110192 Charcot-Marie-Tooth disease type 4H Disease_Ontology DOID:0110193 DOID:0110193 Charcot-Marie-Tooth disease type 4F Disease_Ontology DOID:0110194 DOID:0110194 Charcot-Marie-Tooth disease type 4B3 Disease_Ontology DOID:0110195 DOID:0110195 congenital hypomyelinating neuropathy 1 Disease_Ontology DOID:0110196 DOID:0110196 Charcot-Marie-Tooth disease type 4G Disease_Ontology DOID:0110197 DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B Disease_Ontology DOID:0110198 DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C Disease_Ontology DOID:0110199 DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C Disease_Ontology DOID:0110200 DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D Disease_Ontology DOID:0110201 DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A Disease_Ontology DOID:0110202 DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A Disease_Ontology DOID:0110203 DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D Disease_Ontology DOID:0110204 DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B Disease_Ontology DOID:0110205 DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E Disease_Ontology DOID:0110206 DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F Disease_Ontology DOID:0110207 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 Disease_Ontology DOID:0110208 DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 Disease_Ontology DOID:0110209 DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 Disease_Ontology DOID:0110210 DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 Disease_Ontology DOID:0110211 DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 Disease_Ontology DOID:0110212 DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 Disease_Ontology DOID:0110213 DOID:0110213 isolated cleft palate Disease_Ontology DOID:0110214 DOID:0110214 cleft soft palate Disease_Ontology DOID:0110215 DOID:0110215 Leber congenital amaurosis 5 Disease_Ontology DOID:0110216 DOID:0110216 Leber congenital amaurosis 11 Disease_Ontology DOID:0110217 DOID:0110217 Leber congenital amaurosis 17 Disease_Ontology DOID:0110218 DOID:0110218 Brugada syndrome 1 Disease_Ontology DOID:0110219 DOID:0110219 Brugada syndrome 2 Disease_Ontology DOID:0110220 DOID:0110220 Brugada syndrome 3 Disease_Ontology DOID:0110221 DOID:0110221 Brugada syndrome 4 Disease_Ontology DOID:0110222 DOID:0110222 Brugada syndrome 5 Disease_Ontology DOID:0110223 DOID:0110223 Brugada syndrome 6 Disease_Ontology DOID:0110224 DOID:0110224 Brugada syndrome 7 Disease_Ontology DOID:0110225 DOID:0110225 Brugada syndrome 8 Disease_Ontology DOID:0110226 DOID:0110226 Brugada syndrome 9 Disease_Ontology DOID:0110227 DOID:0110227 cataract 32 multiple types Disease_Ontology DOID:0110228 DOID:0110228 cataract 8 multiple types Disease_Ontology DOID:0110229 DOID:0110229 cataract 6 multiple types Disease_Ontology DOID:0110230 DOID:0110230 cataract 34 multiple types Disease_Ontology DOID:0110231 DOID:0110231 cataract 1 multiple types Disease_Ontology DOID:0110232 DOID:0110232 cataract 29 Disease_Ontology DOID:0110233 DOID:0110233 cataract 27 Disease_Ontology DOID:0110234 DOID:0110234 cataract 4 multiple types Disease_Ontology DOID:0110235 DOID:0110235 cataract 2 multiple types Disease_Ontology DOID:0110236 DOID:0110236 cataract 39 multiple types Disease_Ontology DOID:0110237 DOID:0110237 cataract 42 Disease_Ontology DOID:0110238 DOID:0110238 cataract 18 Disease_Ontology DOID:0110239 DOID:0110239 cataract 12 multiple types Disease_Ontology DOID:0110240 DOID:0110240 cataract 20 multiple types Disease_Ontology DOID:0110241 DOID:0110241 cataract 41 Disease_Ontology DOID:0110242 DOID:0110242 cataract 13 with adult i phenotype Disease_Ontology DOID:0110243 DOID:0110243 cataract 46 juvenile-onset Disease_Ontology DOID:0110244 DOID:0110244 cataract 28 Disease_Ontology DOID:0110245 DOID:0110245 cataract 38 Disease_Ontology DOID:0110246 DOID:0110246 cataract 26 multiple types Disease_Ontology DOID:0110247 DOID:0110247 cataract 36 Disease_Ontology DOID:0110248 DOID:0110248 cataract 30 Disease_Ontology DOID:0110249 DOID:0110249 cataract 11 multiple types Disease_Ontology DOID:0110250 DOID:0110250 cataract 16 multiple types Disease_Ontology DOID:0110251 DOID:0110251 cataract 15 multiple types Disease_Ontology DOID:0110252 DOID:0110252 cataract 37 Disease_Ontology DOID:0110253 DOID:0110253 cataract 14 multiple types Disease_Ontology DOID:0110254 DOID:0110254 cataract 25 Disease_Ontology DOID:0110255 DOID:0110255 cataract 5 multiple types Disease_Ontology DOID:0110256 DOID:0110256 cataract 21 multiple types Disease_Ontology DOID:0110257 DOID:0110257 cataract 24 Disease_Ontology DOID:0110258 DOID:0110258 cataract 10 multiple types Disease_Ontology DOID:0110259 DOID:0110259 cataract 43 Disease_Ontology DOID:0110260 DOID:0110260 cataract 7 Disease_Ontology DOID:0110261 DOID:0110261 cataract 35 Disease_Ontology DOID:0110262 DOID:0110262 cataract 45 Disease_Ontology DOID:0110263 DOID:0110263 cataract 19 multiple types Disease_Ontology DOID:0110264 DOID:0110264 cataract 33 Disease_Ontology DOID:0110265 DOID:0110265 cataract 31 multiple types Disease_Ontology DOID:0110266 DOID:0110266 cataract 9 multiple types Disease_Ontology DOID:0110267 DOID:0110267 cataract 44 Disease_Ontology DOID:0110268 DOID:0110268 cataract 22 multiple types Disease_Ontology DOID:0110269 DOID:0110269 cataract 3 multiple types Disease_Ontology DOID:0110270 DOID:0110270 cataract 17 multiple types Disease_Ontology DOID:0110271 DOID:0110271 cataract 23 Disease_Ontology DOID:0110272 DOID:0110272 cataract 40 Disease_Ontology DOID:0110273 DOID:0110273 autosomal dominant limb-girdle muscular dystrophy Disease_Ontology DOID:0110274 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy Disease_Ontology DOID:0110275 DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A Disease_Ontology DOID:0110276 DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B Disease_Ontology DOID:0110277 DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C Disease_Ontology DOID:0110278 DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D Disease_Ontology DOID:0110279 DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E Disease_Ontology DOID:0110280 DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F Disease_Ontology DOID:0110281 DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G Disease_Ontology DOID:0110282 DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H Disease_Ontology DOID:0110283 DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J Disease_Ontology DOID:0110284 DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L Disease_Ontology DOID:0110285 DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q Disease_Ontology DOID:0110287 DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S Disease_Ontology DOID:0110288 DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W Disease_Ontology DOID:0110289 DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y Disease_Ontology DOID:0110290 DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X Disease_Ontology DOID:0110291 DOID:0110291 Leber congenital amaurosis 10 Disease_Ontology DOID:0110292 DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O Disease_Ontology DOID:0110293 DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P Disease_Ontology DOID:0110294 DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T Disease_Ontology DOID:0110295 DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U Disease_Ontology DOID:0110296 DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M Disease_Ontology DOID:0110297 DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K Disease_Ontology DOID:0110298 DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N Disease_Ontology DOID:0110299 DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I Disease_Ontology DOID:0110303 DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H Disease_Ontology DOID:0110304 DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 Disease_Ontology DOID:0110305 DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 Disease_Ontology DOID:0110306 DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 Disease_Ontology DOID:0110307 DOID:0110307 hypertrophic cardiomyopathy 1 Disease_Ontology DOID:0110308 DOID:0110308 hypertrophic cardiomyopathy 2 Disease_Ontology DOID:0110309 DOID:0110309 hypertrophic cardiomyopathy 3 Disease_Ontology DOID:0110310 DOID:0110310 hypertrophic cardiomyopathy 4 Disease_Ontology DOID:0110311 DOID:0110311 hypertrophic cardiomyopathy 21 Disease_Ontology DOID:0110312 DOID:0110312 hypertrophic cardiomyopathy 6 Disease_Ontology DOID:0110313 DOID:0110313 hypertrophic cardiomyopathy 7 Disease_Ontology DOID:0110314 DOID:0110314 hypertrophic cardiomyopathy 8 Disease_Ontology DOID:0110315 DOID:0110315 hypertrophic cardiomyopathy 9 Disease_Ontology DOID:0110316 DOID:0110316 hypertrophic cardiomyopathy 10 Disease_Ontology DOID:0110317 DOID:0110317 hypertrophic cardiomyopathy 11 Disease_Ontology DOID:0110318 DOID:0110318 hypertrophic cardiomyopathy 12 Disease_Ontology DOID:0110319 DOID:0110319 hypertrophic cardiomyopathy 13 Disease_Ontology DOID:0110320 DOID:0110320 hypertrophic cardiomyopathy 14 Disease_Ontology DOID:0110321 DOID:0110321 hypertrophic cardiomyopathy 15 Disease_Ontology DOID:0110322 DOID:0110322 hypertrophic cardiomyopathy 16 Disease_Ontology DOID:0110323 DOID:0110323 hypertrophic cardiomyopathy 17 Disease_Ontology DOID:0110324 DOID:0110324 hypertrophic cardiomyopathy 18 Disease_Ontology DOID:0110326 DOID:0110326 hypertrophic cardiomyopathy 20 Disease_Ontology DOID:0110327 DOID:0110327 hypertrophic cardiomyopathy 26 Disease_Ontology DOID:0110328 DOID:0110328 hypertrophic cardiomyopathy 25 Disease_Ontology DOID:0110329 DOID:0110329 Leber congenital amaurosis 6 Disease_Ontology DOID:0110330 DOID:0110330 Leber congenital amaurosis 13 Disease_Ontology DOID:0110331 DOID:0110331 Leber congenital amaurosis 3 Disease_Ontology DOID:0110332 DOID:0110332 Leber congenital amaurosis 4 Disease_Ontology DOID:0110333 DOID:0110333 Leber congenital amaurosis 7 Disease_Ontology DOID:0110334 DOID:0110334 osteogenesis imperfecta type 1 Disease_Ontology DOID:0110335 DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures Disease_Ontology DOID:0110336 DOID:0110336 osteogenesis imperfecta type 8 Disease_Ontology DOID:0110337 DOID:0110337 osteogenesis imperfecta type 7 Disease_Ontology DOID:0110338 DOID:0110338 osteogenesis imperfecta type 17 Disease_Ontology DOID:0110339 DOID:0110339 osteogenesis imperfecta type 3 Disease_Ontology DOID:0110340 DOID:0110340 osteogenesis imperfecta type 4 Disease_Ontology DOID:0110341 DOID:0110341 osteogenesis imperfecta type 2 Disease_Ontology DOID:0110342 DOID:0110342 osteogenesis imperfecta type 13 Disease_Ontology DOID:0110343 DOID:0110343 osteogenesis imperfecta type 14 Disease_Ontology DOID:0110344 DOID:0110344 osteogenesis imperfecta type 5 Disease_Ontology DOID:0110345 DOID:0110345 osteogenesis imperfecta type 16 Disease_Ontology DOID:0110346 DOID:0110346 osteogenesis imperfecta type 10 Disease_Ontology DOID:0110347 DOID:0110347 osteogenesis imperfecta type 15 Disease_Ontology DOID:0110348 DOID:0110348 osteogenesis imperfecta type 12 Disease_Ontology DOID:0110349 DOID:0110349 osteogenesis imperfecta type 9 Disease_Ontology DOID:0110350 DOID:0110350 osteogenesis imperfecta type 6 Disease_Ontology DOID:0110351 DOID:0110351 osteogenesis imperfecta type 11 Disease_Ontology DOID:0110352 DOID:0110352 retinitis pigmentosa 59 Disease_Ontology DOID:0110353 DOID:0110353 retinitis pigmentosa 20 Disease_Ontology DOID:0110354 DOID:0110354 retinitis pigmentosa 19 Disease_Ontology DOID:0110355 DOID:0110355 retinitis pigmentosa 32 Disease_Ontology DOID:0110356 DOID:0110356 retinitis pigmentosa 18 Disease_Ontology DOID:0110357 DOID:0110357 retinitis pigmentosa 35 Disease_Ontology DOID:0110358 DOID:0110358 retinitis pigmentosa 12 Disease_Ontology DOID:0110359 DOID:0110359 retinitis pigmentosa 67 Disease_Ontology DOID:0110360 DOID:0110360 retinitis pigmentosa 39 Disease_Ontology DOID:0110361 DOID:0110361 retinitis pigmentosa 75 Disease_Ontology DOID:0110362 DOID:0110362 retinitis pigmentosa 58 Disease_Ontology DOID:0110363 DOID:0110363 retinitis pigmentosa 71 Disease_Ontology DOID:0110364 DOID:0110364 retinitis pigmentosa 54 Disease_Ontology DOID:0110365 DOID:0110365 retinitis pigmentosa 28 Disease_Ontology DOID:0110366 DOID:0110366 retinitis pigmentosa 33 Disease_Ontology DOID:0110367 DOID:0110367 retinitis pigmentosa 38 Disease_Ontology DOID:0110368 DOID:0110368 retinitis pigmentosa 26 Disease_Ontology DOID:0110369 DOID:0110369 retinitis pigmentosa 47 Disease_Ontology DOID:0110370 DOID:0110370 retinitis pigmentosa 55 Disease_Ontology DOID:0110371 DOID:0110371 retinitis pigmentosa 56 Disease_Ontology DOID:0110372 DOID:0110372 retinitis pigmentosa 4 Disease_Ontology DOID:0110373 DOID:0110373 retinitis pigmentosa 61 Disease_Ontology DOID:0110374 DOID:0110374 retinitis pigmentosa 68 Disease_Ontology DOID:0110375 DOID:0110375 retinitis pigmentosa 40 Disease_Ontology DOID:0110376 DOID:0110376 retinitis pigmentosa 41 Disease_Ontology DOID:0110377 DOID:0110377 retinitis pigmentosa 49 Disease_Ontology DOID:0110378 DOID:0110378 retinitis pigmentosa 29 Disease_Ontology DOID:0110379 DOID:0110379 retinitis pigmentosa 43 Disease_Ontology DOID:0110380 DOID:0110380 retinitis pigmentosa 62 Disease_Ontology DOID:0110381 DOID:0110381 retinitis pigmentosa 14 Disease_Ontology DOID:0110382 DOID:0110382 retinitis pigmentosa 48 Disease_Ontology DOID:0110383 DOID:0110383 retinitis pigmentosa 7 Disease_Ontology DOID:0110384 DOID:0110384 retinitis pigmentosa 25 Disease_Ontology DOID:0110385 DOID:0110385 retinitis pigmentosa 63 Disease_Ontology DOID:0110386 DOID:0110386 retinitis pigmentosa 42 Disease_Ontology DOID:0110387 DOID:0110387 retinitis pigmentosa 9 Disease_Ontology DOID:0110388 DOID:0110388 retinitis pigmentosa 10 Disease_Ontology DOID:0110389 DOID:0110389 retinitis pigmentosa 73 Disease_Ontology DOID:0110390 DOID:0110390 retinitis pigmentosa 1 Disease_Ontology DOID:0110391 DOID:0110391 retinitis pigmentosa 31 Disease_Ontology DOID:0110392 DOID:0110392 retinitis pigmentosa 70 Disease_Ontology DOID:0110393 DOID:0110393 retinitis pigmentosa 66 Disease_Ontology DOID:0110394 DOID:0110394 retinitis pigmentosa 44 Disease_Ontology DOID:0110395 DOID:0110395 retinitis pigmentosa 72 Disease_Ontology DOID:0110396 DOID:0110396 retinitis pigmentosa 50 Disease_Ontology DOID:0110397 DOID:0110397 retinitis pigmentosa 27 Disease_Ontology DOID:0110398 DOID:0110398 retinitis pigmentosa 51 Disease_Ontology DOID:0110399 DOID:0110399 retinitis pigmentosa 37 Disease_Ontology DOID:0110400 DOID:0110400 retinitis pigmentosa 22 Disease_Ontology DOID:0110401 DOID:0110401 retinitis pigmentosa 74 Disease_Ontology DOID:0110402 DOID:0110402 retinitis pigmentosa 45 Disease_Ontology DOID:0110403 DOID:0110403 retinitis pigmentosa 13 Disease_Ontology DOID:0110404 DOID:0110404 retinitis pigmentosa 17 Disease_Ontology DOID:0110405 DOID:0110405 retinitis pigmentosa 36 Disease_Ontology DOID:0110406 DOID:0110406 retinitis pigmentosa 30 Disease_Ontology DOID:0110407 DOID:0110407 retinitis pigmentosa 57 Disease_Ontology DOID:0110408 DOID:0110408 retinitis pigmentosa 11 Disease_Ontology DOID:0110409 DOID:0110409 retinitis pigmentosa 46 Disease_Ontology DOID:0110410 DOID:0110410 retinitis pigmentosa 69 Disease_Ontology DOID:0110411 DOID:0110411 retinitis pigmentosa 60 Disease_Ontology DOID:0110412 DOID:0110412 retinitis pigmentosa 23 Disease_Ontology DOID:0110413 DOID:0110413 retinitis pigmentosa 6 Disease_Ontology DOID:0110414 DOID:0110414 retinitis pigmentosa 3 Disease_Ontology DOID:0110415 DOID:0110415 retinitis pigmentosa 2 Disease_Ontology DOID:0110416 DOID:0110416 retinitis pigmentosa 24 Disease_Ontology DOID:0110417 DOID:0110417 retinitis pigmentosa 34 Disease_Ontology DOID:0110418 DOID:0110418 retinitis pigmentosa Y-linked Disease_Ontology DOID:0110419 DOID:0110419 retinitis pigmentosa with or without situs inversus Disease_Ontology DOID:0110420 DOID:0110420 dominant pericentral pigmentary retinopathy Disease_Ontology DOID:0110421 DOID:0110421 late-adult onset retinitis pigmentosa Disease_Ontology DOID:0110422 DOID:0110422 autosomal recessive pericentral pigmentary retinopathy Disease_Ontology DOID:0110423 DOID:0110423 dilated cardiomyopathy 1C Disease_Ontology DOID:0110424 DOID:0110424 dilated cardiomyopathy 1CC Disease_Ontology DOID:0110425 DOID:0110425 dilated cardiomyopathy 1A Disease_Ontology DOID:0110426 DOID:0110426 dilated cardiomyopathy 1D Disease_Ontology DOID:0110427 DOID:0110427 dilated cardiomyopathy 1V Disease_Ontology DOID:0110428 DOID:0110428 dilated cardiomyopathy 1AA Disease_Ontology DOID:0110429 DOID:0110429 dilated cardiomyopathy 1H Disease_Ontology DOID:0110430 DOID:0110430 dilated cardiomyopathy 1G Disease_Ontology DOID:0110431 DOID:0110431 dilated cardiomyopathy 1I Disease_Ontology DOID:0110432 DOID:0110432 dilated cardiomyopathy 1NN Disease_Ontology DOID:0110433 DOID:0110433 dilated cardiomyopathy 1E Disease_Ontology DOID:0110434 DOID:0110434 dilated cardiomyopathy 1Z Disease_Ontology DOID:0110435 DOID:0110435 dilated cardiomyopathy 1GG Disease_Ontology DOID:0110436 DOID:0110436 dilated cardiomyopathy 1L Disease_Ontology DOID:0110437 DOID:0110437 dilated cardiomyopathy 1K Disease_Ontology DOID:0110438 DOID:0110438 dilated cardiomyopathy 1JJ Disease_Ontology DOID:0110439 DOID:0110439 dilated cardiomyopathy 1P Disease_Ontology DOID:0110440 DOID:0110440 dilated cardiomyopathy 1J Disease_Ontology DOID:0110441 DOID:0110441 dilated cardiomyopathy 2B Disease_Ontology DOID:0110442 DOID:0110442 dilated cardiomyopathy 1Q Disease_Ontology DOID:0110443 DOID:0110443 dilated cardiomyopathy 1B Disease_Ontology DOID:0110444 DOID:0110444 dilated cardiomyopathy 1X Disease_Ontology DOID:0110445 DOID:0110445 dilated cardiomyopathy 1KK Disease_Ontology DOID:0110446 DOID:0110446 dilated cardiomyopathy 1W Disease_Ontology DOID:0110447 DOID:0110447 dilated cardiomyopathy 1DD Disease_Ontology DOID:0110448 DOID:0110448 dilated cardiomyopathy 1HH Disease_Ontology DOID:0110449 DOID:0110449 dilated cardiomyopathy 1M Disease_Ontology DOID:0110450 DOID:0110450 dilated cardiomyopathy 1II Disease_Ontology DOID:0110451 DOID:0110451 dilated cardiomyopathy 1O Disease_Ontology DOID:0110452 DOID:0110452 dilated cardiomyopathy 1T Disease_Ontology DOID:0110453 DOID:0110453 dilated cardiomyopathy 1EE Disease_Ontology DOID:0110454 DOID:0110454 dilated cardiomyopathy 1S Disease_Ontology DOID:0110455 DOID:0110455 dilated cardiomyopathy 1U Disease_Ontology DOID:0110456 DOID:0110456 dilated cardiomyopathy 1R Disease_Ontology DOID:0110457 DOID:0110457 dilated cardiomyopathy 1Y Disease_Ontology DOID:0110458 DOID:0110458 dilated cardiomyopathy 1BB Disease_Ontology DOID:0110459 DOID:0110459 dilated cardiomyopathy 1FF Disease_Ontology DOID:0110460 DOID:0110460 dilated cardiomyopathy 2A Disease_Ontology DOID:0110461 DOID:0110461 dilated cardiomyopathy 3B Disease_Ontology DOID:0110462 DOID:0110462 autosomal recessive nonsyndromic deafness 101 Disease_Ontology DOID:0110463 DOID:0110463 autosomal recessive nonsyndromic deafness 102 Disease_Ontology DOID:0110464 DOID:0110464 autosomal recessive nonsyndromic deafness 103 Disease_Ontology DOID:0110465 DOID:0110465 autosomal recessive nonsyndromic deafness 104 Disease_Ontology DOID:0110467 DOID:0110467 autosomal recessive nonsyndromic deafness 12 Disease_Ontology DOID:0110468 DOID:0110468 autosomal recessive nonsyndromic deafness 13 Disease_Ontology DOID:0110469 DOID:0110469 autosomal recessive nonsyndromic deafness 14 Disease_Ontology DOID:0110470 DOID:0110470 autosomal recessive nonsyndromic deafness 15 Disease_Ontology DOID:0110471 DOID:0110471 autosomal recessive nonsyndromic deafness 16 Disease_Ontology DOID:0110472 DOID:0110472 autosomal recessive nonsyndromic deafness 17 Disease_Ontology DOID:0110473 DOID:0110473 autosomal recessive nonsyndromic deafness 18A Disease_Ontology DOID:0110474 DOID:0110474 autosomal recessive nonsyndromic deafness 18B Disease_Ontology DOID:0110475 DOID:0110475 autosomal recessive nonsyndromic deafness 1A Disease_Ontology DOID:0110476 DOID:0110476 autosomal recessive nonsyndromic deafness 1B Disease_Ontology DOID:0110477 DOID:0110477 autosomal recessive nonsyndromic deafness 2 Disease_Ontology DOID:0110478 DOID:0110478 autosomal recessive nonsyndromic deafness 20 Disease_Ontology DOID:0110479 DOID:0110479 autosomal recessive nonsyndromic deafness 21 Disease_Ontology DOID:0110480 DOID:0110480 autosomal recessive nonsyndromic deafness 22 Disease_Ontology DOID:0110481 DOID:0110481 autosomal recessive nonsyndromic deafness 23 Disease_Ontology DOID:0110482 DOID:0110482 autosomal recessive nonsyndromic deafness 24 Disease_Ontology DOID:0110483 DOID:0110483 autosomal recessive nonsyndromic deafness 25 Disease_Ontology DOID:0110484 DOID:0110484 autosomal recessive nonsyndromic deafness 26 Disease_Ontology DOID:0110485 DOID:0110485 autosomal recessive nonsyndromic deafness 27 Disease_Ontology DOID:0110486 DOID:0110486 autosomal recessive nonsyndromic deafness 28 Disease_Ontology DOID:0110487 DOID:0110487 autosomal recessive nonsyndromic deafness 29 Disease_Ontology DOID:0110488 DOID:0110488 autosomal recessive nonsyndromic deafness 3 Disease_Ontology DOID:0110489 DOID:0110489 autosomal recessive nonsyndromic deafness 30 Disease_Ontology DOID:0110490 DOID:0110490 autosomal recessive nonsyndromic deafness 31 Disease_Ontology DOID:0110491 DOID:0110491 autosomal recessive nonsyndromic deafness 32 Disease_Ontology DOID:0110492 DOID:0110492 autosomal recessive nonsyndromic deafness 33 Disease_Ontology DOID:0110493 DOID:0110493 autosomal recessive nonsyndromic deafness 35 Disease_Ontology DOID:0110494 DOID:0110494 autosomal recessive nonsyndromic deafness 36 Disease_Ontology DOID:0110495 DOID:0110495 autosomal recessive nonsyndromic deafness 37 Disease_Ontology DOID:0110496 DOID:0110496 autosomal recessive nonsyndromic deafness 38 Disease_Ontology DOID:0110497 DOID:0110497 autosomal recessive nonsyndromic deafness 39 Disease_Ontology DOID:0110498 DOID:0110498 autosomal recessive nonsyndromic deafness 4 Disease_Ontology DOID:0110499 DOID:0110499 autosomal recessive nonsyndromic deafness 40 Disease_Ontology DOID:0110500 DOID:0110500 autosomal recessive nonsyndromic deafness 42 Disease_Ontology DOID:0110501 DOID:0110501 autosomal recessive nonsyndromic deafness 44 Disease_Ontology DOID:0110502 DOID:0110502 autosomal recessive nonsyndromic deafness 45 Disease_Ontology DOID:0110503 DOID:0110503 autosomal recessive nonsyndromic deafness 46 Disease_Ontology DOID:0110504 DOID:0110504 autosomal recessive nonsyndromic deafness 47 Disease_Ontology DOID:0110505 DOID:0110505 autosomal recessive nonsyndromic deafness 48 Disease_Ontology DOID:0110506 DOID:0110506 autosomal recessive nonsyndromic deafness 49 Disease_Ontology DOID:0110507 DOID:0110507 autosomal recessive nonsyndromic deafness 5 Disease_Ontology DOID:0110508 DOID:0110508 autosomal recessive nonsyndromic deafness 51 Disease_Ontology DOID:0110509 DOID:0110509 autosomal recessive nonsyndromic deafness 53 Disease_Ontology DOID:0110510 DOID:0110510 autosomal recessive nonsyndromic deafness 55 Disease_Ontology DOID:0110511 DOID:0110511 autosomal recessive nonsyndromic deafness 59 Disease_Ontology DOID:0110512 DOID:0110512 autosomal recessive nonsyndromic deafness 6 Disease_Ontology DOID:0110513 DOID:0110513 autosomal recessive nonsyndromic deafness 61 Disease_Ontology DOID:0110514 DOID:0110514 autosomal recessive nonsyndromic deafness 62 Disease_Ontology DOID:0110515 DOID:0110515 autosomal recessive nonsyndromic deafness 63 Disease_Ontology DOID:0110516 DOID:0110516 autosomal recessive nonsyndromic deafness 65 Disease_Ontology DOID:0110517 DOID:0110517 autosomal recessive nonsyndromic deafness 66 Disease_Ontology DOID:0110518 DOID:0110518 autosomal recessive nonsyndromic deafness 67 Disease_Ontology DOID:0110519 DOID:0110519 autosomal recessive nonsyndromic deafness 68 Disease_Ontology DOID:0110520 DOID:0110520 autosomal recessive nonsyndromic deafness 7 Disease_Ontology DOID:0110521 DOID:0110521 autosomal recessive nonsyndromic deafness 70 Disease_Ontology DOID:0110522 DOID:0110522 autosomal recessive nonsyndromic deafness 71 Disease_Ontology DOID:0110523 DOID:0110523 autosomal recessive nonsyndromic deafness 74 Disease_Ontology DOID:0110524 DOID:0110524 autosomal recessive nonsyndromic deafness 76 Disease_Ontology DOID:0110525 DOID:0110525 autosomal recessive nonsyndromic deafness 77 Disease_Ontology DOID:0110526 DOID:0110526 autosomal recessive nonsyndromic deafness 79 Disease_Ontology DOID:0110527 DOID:0110527 autosomal recessive nonsyndromic deafness 8 Disease_Ontology DOID:0110528 DOID:0110528 autosomal recessive nonsyndromic deafness 83 Disease_Ontology DOID:0110529 DOID:0110529 autosomal recessive nonsyndromic deafness 84A Disease_Ontology DOID:0110530 DOID:0110530 autosomal recessive nonsyndromic deafness 84B Disease_Ontology DOID:0110531 DOID:0110531 autosomal recessive nonsyndromic deafness 85 Disease_Ontology DOID:0110532 DOID:0110532 autosomal recessive nonsyndromic deafness 86 Disease_Ontology DOID:0110533 DOID:0110533 autosomal recessive nonsyndromic deafness 88 Disease_Ontology DOID:0110534 DOID:0110534 autosomal recessive nonsyndromic deafness 89 Disease_Ontology DOID:0110535 DOID:0110535 autosomal recessive nonsyndromic deafness 9 Disease_Ontology DOID:0110536 DOID:0110536 autosomal recessive nonsyndromic deafness 91 Disease_Ontology DOID:0110537 DOID:0110537 autosomal recessive nonsyndromic deafness 93 Disease_Ontology DOID:0110538 DOID:0110538 autosomal recessive nonsyndromic deafness 96 Disease_Ontology DOID:0110539 DOID:0110539 autosomal recessive nonsyndromic deafness 97 Disease_Ontology DOID:0110540 DOID:0110540 autosomal recessive nonsyndromic deafness 98 Disease_Ontology DOID:0110541 DOID:0110541 autosomal dominant nonsyndromic deafness 1 Disease_Ontology DOID:0110542 DOID:0110542 autosomal dominant nonsyndromic deafness 10 Disease_Ontology DOID:0110543 DOID:0110543 autosomal dominant nonsyndromic deafness 11 Disease_Ontology DOID:0110544 DOID:0110544 autosomal dominant nonsyndromic deafness 12 Disease_Ontology DOID:0110545 DOID:0110545 autosomal dominant nonsyndromic deafness 13 Disease_Ontology DOID:0110546 DOID:0110546 autosomal dominant nonsyndromic deafness 15 Disease_Ontology DOID:0110547 DOID:0110547 autosomal dominant nonsyndromic deafness 16 Disease_Ontology DOID:0110548 DOID:0110548 autosomal dominant nonsyndromic deafness 17 Disease_Ontology DOID:0110549 DOID:0110549 autosomal dominant nonsyndromic deafness 18 Disease_Ontology DOID:0110550 DOID:0110550 autosomal dominant nonsyndromic deafness 20 Disease_Ontology DOID:0110551 DOID:0110551 autosomal dominant nonsyndromic deafness 21 Disease_Ontology DOID:0110552 DOID:0110552 autosomal dominant nonsyndromic deafness 22 Disease_Ontology DOID:0110553 DOID:0110553 autosomal dominant nonsyndromic deafness 23 Disease_Ontology DOID:0110554 DOID:0110554 autosomal dominant nonsyndromic deafness 24 Disease_Ontology DOID:0110555 DOID:0110555 autosomal dominant nonsyndromic deafness 25 Disease_Ontology DOID:0110556 DOID:0110556 autosomal dominant nonsyndromic deafness 27 Disease_Ontology DOID:0110557 DOID:0110557 autosomal dominant nonsyndromic deafness 28 Disease_Ontology DOID:0110558 DOID:0110558 autosomal dominant nonsyndromic deafness 2A Disease_Ontology DOID:0110559 DOID:0110559 autosomal dominant nonsyndromic deafness 2B Disease_Ontology DOID:0110560 DOID:0110560 autosomal dominant nonsyndromic deafness 30 Disease_Ontology DOID:0110561 DOID:0110561 autosomal dominant nonsyndromic deafness 31 Disease_Ontology DOID:0110562 DOID:0110562 autosomal dominant nonsyndromic deafness 33 Disease_Ontology DOID:0110563 DOID:0110563 autosomal dominant nonsyndromic deafness 36 Disease_Ontology DOID:0110564 DOID:0110564 autosomal dominant nonsyndromic deafness 3A Disease_Ontology DOID:0110565 DOID:0110565 autosomal dominant nonsyndromic deafness 3B Disease_Ontology DOID:0110566 DOID:0110566 autosomal dominant nonsyndromic deafness 40 Disease_Ontology DOID:0110567 DOID:0110567 autosomal dominant nonsyndromic deafness 41 Disease_Ontology DOID:0110568 DOID:0110568 autosomal dominant nonsyndromic deafness 43 Disease_Ontology DOID:0110569 DOID:0110569 autosomal dominant nonsyndromic deafness 44 Disease_Ontology DOID:0110570 DOID:0110570 autosomal dominant nonsyndromic deafness 47 Disease_Ontology DOID:0110571 DOID:0110571 autosomal dominant nonsyndromic deafness 48 Disease_Ontology DOID:0110572 DOID:0110572 autosomal dominant nonsyndromic deafness 49 Disease_Ontology DOID:0110573 DOID:0110573 autosomal dominant nonsyndromic deafness 4A Disease_Ontology DOID:0110574 DOID:0110574 autosomal dominant nonsyndromic deafness 4B Disease_Ontology DOID:0110575 DOID:0110575 autosomal dominant nonsyndromic deafness 5 Disease_Ontology DOID:0110576 DOID:0110576 autosomal dominant nonsyndromic deafness 50 Disease_Ontology DOID:0110577 DOID:0110577 autosomal dominant nonsyndromic deafness 51 Disease_Ontology DOID:0110579 DOID:0110579 autosomal dominant nonsyndromic deafness 53 Disease_Ontology DOID:0110580 DOID:0110580 autosomal dominant nonsyndromic deafness 54 Disease_Ontology DOID:0110581 DOID:0110581 autosomal dominant nonsyndromic deafness 56 Disease_Ontology DOID:0110582 DOID:0110582 autosomal dominant nonsyndromic deafness 58 Disease_Ontology DOID:0110583 DOID:0110583 autosomal dominant nonsyndromic deafness 59 Disease_Ontology DOID:0110584 DOID:0110584 autosomal dominant nonsyndromic deafness 6 Disease_Ontology DOID:0110585 DOID:0110585 autosomal dominant nonsyndromic deafness 64 Disease_Ontology DOID:0110586 DOID:0110586 autosomal dominant nonsyndromic deafness 65 Disease_Ontology DOID:0110587 DOID:0110587 autosomal dominant nonsyndromic deafness 66 Disease_Ontology DOID:0110588 DOID:0110588 autosomal dominant nonsyndromic deafness 67 Disease_Ontology DOID:0110589 DOID:0110589 autosomal dominant nonsyndromic deafness 68 Disease_Ontology DOID:0110590 DOID:0110590 autosomal dominant nonsyndromic deafness 69 Disease_Ontology DOID:0110591 DOID:0110591 autosomal dominant nonsyndromic deafness 7 Disease_Ontology DOID:0110592 DOID:0110592 autosomal dominant nonsyndromic deafness 70 Disease_Ontology DOID:0110593 DOID:0110593 autosomal dominant nonsyndromic deafness 9 Disease_Ontology DOID:0110594 DOID:0110594 primary ciliary dyskinesia 1 Disease_Ontology DOID:0110595 DOID:0110595 Stromme syndrome Disease_Ontology DOID:0110596 DOID:0110596 primary ciliary dyskinesia 21 Disease_Ontology DOID:0110597 DOID:0110597 primary ciliary dyskinesia 22 Disease_Ontology DOID:0110598 DOID:0110598 primary ciliary dyskinesia 14 Disease_Ontology DOID:0110599 DOID:0110599 primary ciliary dyskinesia 3 Disease_Ontology DOID:0110600 DOID:0110600 primary ciliary dyskinesia 29 Disease_Ontology DOID:0110601 DOID:0110601 primary ciliary dyskinesia 12 Disease_Ontology DOID:0110602 DOID:0110602 primary ciliary dyskinesia 11 Disease_Ontology DOID:0110603 DOID:0110603 primary ciliary dyskinesia 32 Disease_Ontology DOID:0110604 DOID:0110604 primary ciliary dyskinesia 18 Disease_Ontology DOID:0110605 DOID:0110605 primary ciliary dyskinesia 7 Disease_Ontology DOID:0110606 DOID:0110606 primary ciliary dyskinesia 6 Disease_Ontology DOID:0110607 DOID:0110607 primary ciliary dyskinesia 28 Disease_Ontology DOID:0110608 DOID:0110608 primary ciliary dyskinesia 19 Disease_Ontology DOID:0110609 DOID:0110609 primary ciliary dyskinesia 23 Disease_Ontology DOID:0110610 DOID:0110610 primary ciliary dyskinesia 34 Disease_Ontology DOID:0110611 DOID:0110611 primary ciliary dyskinesia 27 Disease_Ontology DOID:0110612 DOID:0110612 primary ciliary dyskinesia 10 Disease_Ontology DOID:0110613 DOID:0110613 primary ciliary dyskinesia 16 Disease_Ontology DOID:0110614 DOID:0110614 primary ciliary dyskinesia 4 Disease_Ontology DOID:0110615 DOID:0110615 primary ciliary dyskinesia 25 Disease_Ontology DOID:0110616 DOID:0110616 primary ciliary dyskinesia 8 Disease_Ontology DOID:0110617 DOID:0110617 primary ciliary dyskinesia 5 Disease_Ontology DOID:0110618 DOID:0110618 primary ciliary dyskinesia 13 Disease_Ontology DOID:0110619 DOID:0110619 primary ciliary dyskinesia 33 Disease_Ontology DOID:0110620 DOID:0110620 primary ciliary dyskinesia 35 Disease_Ontology DOID:0110621 DOID:0110621 primary ciliary dyskinesia 17 Disease_Ontology DOID:0110622 DOID:0110622 primary ciliary dyskinesia 9 Disease_Ontology DOID:0110623 DOID:0110623 primary ciliary dyskinesia 15 Disease_Ontology DOID:0110624 DOID:0110624 primary ciliary dyskinesia 30 Disease_Ontology DOID:0110625 DOID:0110625 primary ciliary dyskinesia 20 Disease_Ontology DOID:0110626 DOID:0110626 primary ciliary dyskinesia 2 Disease_Ontology DOID:0110627 DOID:0110627 primary ciliary dyskinesia 26 Disease_Ontology DOID:0110628 DOID:0110628 primary ciliary dyskinesia 24 Disease_Ontology DOID:0110629 DOID:0110629 Wolfram syndrome 1 Disease_Ontology DOID:0110630 DOID:0110630 Wolfram syndrome 2 Disease_Ontology DOID:0110632 DOID:0110632 megaconial type congenital muscular dystrophy Disease_Ontology DOID:0110633 DOID:0110633 rigid spine muscular dystrophy 1 Disease_Ontology DOID:0110634 DOID:0110634 congenital muscular dystrophy 1B Disease_Ontology DOID:0110635 DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 Disease_Ontology DOID:0110636 DOID:0110636 congenital merosin-deficient muscular dystrophy 1A Disease_Ontology DOID:0110637 DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 Disease_Ontology DOID:0110639 DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency Disease_Ontology DOID:0110640 DOID:0110640 congenital muscular dystrophy due to LMNA mutation Disease_Ontology DOID:0110644 DOID:0110644 long QT syndrome 1 Disease_Ontology DOID:0110645 DOID:0110645 long QT syndrome 2 Disease_Ontology DOID:0110646 DOID:0110646 long QT syndrome 3 Disease_Ontology DOID:0110647 DOID:0110647 long QT syndrome 5 Disease_Ontology DOID:0110648 DOID:0110648 long QT syndrome 6 Disease_Ontology DOID:0110649 DOID:0110649 long QT syndrome 8 Disease_Ontology DOID:0110650 DOID:0110650 long QT syndrome 9 Disease_Ontology DOID:0110651 DOID:0110651 long QT syndrome 10 Disease_Ontology DOID:0110652 DOID:0110652 long QT syndrome 11 Disease_Ontology DOID:0110653 DOID:0110653 long QT syndrome 12 Disease_Ontology DOID:0110654 DOID:0110654 long QT syndrome 13 Disease_Ontology DOID:0110655 DOID:0110655 long QT syndrome 14 Disease_Ontology DOID:0110656 DOID:0110656 long QT syndrome 15 Disease_Ontology DOID:0110657 DOID:0110657 congenital myasthenic syndrome 8 Disease_Ontology DOID:0110658 DOID:0110658 congenital myasthenic syndrome 15 Disease_Ontology DOID:0110659 DOID:0110659 congenital myasthenic syndrome 7 Disease_Ontology DOID:0110660 DOID:0110660 congenital myasthenic syndrome 12 Disease_Ontology DOID:0110661 DOID:0110661 congenital myasthenic syndrome 20 Disease_Ontology DOID:0110662 DOID:0110662 congenital myasthenic syndrome 1B Disease_Ontology DOID:0110663 DOID:0110663 congenital myasthenic syndrome 1A Disease_Ontology DOID:0110664 DOID:0110664 congenital myasthenic syndrome 3C Disease_Ontology DOID:0110665 DOID:0110665 congenital myasthenic syndrome 3B Disease_Ontology DOID:0110666 DOID:0110666 congenital myasthenic syndrome 3A Disease_Ontology DOID:0110667 DOID:0110667 congenital myasthenic syndrome 5 Disease_Ontology DOID:0110668 DOID:0110668 congenital myasthenic syndrome 10 Disease_Ontology DOID:0110669 DOID:0110669 congenital myasthenic syndrome 14 Disease_Ontology DOID:0110670 DOID:0110670 congenital myasthenic syndrome 9 Disease_Ontology DOID:0110671 DOID:0110671 congenital myasthenic syndrome 6 Disease_Ontology DOID:0110672 DOID:0110672 congenital myasthenic syndrome 21 Disease_Ontology DOID:0110673 DOID:0110673 congenital myasthenic syndrome 19 Disease_Ontology DOID:0110674 DOID:0110674 congenital myasthenic syndrome 17 Disease_Ontology DOID:0110675 DOID:0110675 congenital myasthenic syndrome 11 Disease_Ontology DOID:0110676 DOID:0110676 congenital myasthenic syndrome 13 Disease_Ontology DOID:0110677 DOID:0110677 congenital myasthenic syndrome 4B Disease_Ontology DOID:0110678 DOID:0110678 congenital myasthenic syndrome 4A Disease_Ontology DOID:0110679 DOID:0110679 congenital myasthenic syndrome 4C Disease_Ontology DOID:0110680 DOID:0110680 congenital myasthenic syndrome 2C Disease_Ontology DOID:0110681 DOID:0110681 congenital myasthenic syndrome 2A Disease_Ontology DOID:0110682 DOID:0110682 congenital myasthenic syndrome 16 Disease_Ontology DOID:0110683 DOID:0110683 developmental and epileptic encephalopathy 117 Disease_Ontology DOID:0110698 DOID:0110698 hypotrichosis 1 Disease_Ontology DOID:0110699 DOID:0110699 hypotrichosis 2 Disease_Ontology DOID:0110700 DOID:0110700 hypotrichosis 3 Disease_Ontology DOID:0110701 DOID:0110701 hypotrichosis 4 Disease_Ontology DOID:0110702 DOID:0110702 hypotrichosis 5 Disease_Ontology DOID:0110703 DOID:0110703 hypotrichosis 6 Disease_Ontology DOID:0110704 DOID:0110704 hypotrichosis 7 Disease_Ontology DOID:0110705 DOID:0110705 hypotrichosis 8 Disease_Ontology DOID:0110706 DOID:0110706 hypotrichosis 9 Disease_Ontology DOID:0110707 DOID:0110707 hypotrichosis 10 Disease_Ontology DOID:0110708 DOID:0110708 hypotrichosis 11 Disease_Ontology DOID:0110709 DOID:0110709 hypotrichosis 12 Disease_Ontology DOID:0110710 DOID:0110710 hypotrichosis 13 Disease_Ontology DOID:0110711 DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy Disease_Ontology DOID:0110712 DOID:0110712 Oguchi disease-1 Disease_Ontology DOID:0110713 DOID:0110713 Oguchi disease-2 Disease_Ontology DOID:0110714 DOID:0110714 congenital stationary night blindness 1G Disease_Ontology DOID:0110715 DOID:0110715 congenital stationary night blindness autosomal dominant 3 Disease_Ontology DOID:0110716 DOID:0110716 Warburg micro syndrome 1 Disease_Ontology DOID:0110717 DOID:0110717 Warburg micro syndrome 2 Disease_Ontology DOID:0110718 DOID:0110718 Warburg micro syndrome 3 Disease_Ontology DOID:0110719 DOID:0110719 Warburg micro syndrome 4 Disease_Ontology DOID:0110720 DOID:0110720 neuronal ceroid lipofuscinosis 4 Disease_Ontology DOID:0110721 DOID:0110721 neuronal ceroid lipofuscinosis 1 Disease_Ontology DOID:0110722 DOID:0110722 neuronal ceroid lipofuscinosis 7 Disease_Ontology DOID:0110723 DOID:0110723 neuronal ceroid lipofuscinosis 8 Disease_Ontology DOID:0110724 DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant Disease_Ontology DOID:0110725 DOID:0110725 neuronal ceroid lipofuscinosis 10 Disease_Ontology DOID:0110726 DOID:0110726 neuronal ceroid lipofuscinosis 2 Disease_Ontology DOID:0110727 DOID:0110727 neuronal ceroid lipofuscinosis 13 Disease_Ontology DOID:0110728 DOID:0110728 neuronal ceroid lipofuscinosis 5 Disease_Ontology DOID:0110729 DOID:0110729 neuronal ceroid lipofuscinosis 6A Disease_Ontology DOID:0110730 DOID:0110730 neuronal ceroid lipofuscinosis 6B Disease_Ontology DOID:0110731 DOID:0110731 neuronal ceroid lipofuscinosis 3 Disease_Ontology DOID:0110732 DOID:0110732 neuronal ceroid lipofuscinosis 11 Disease_Ontology DOID:0110733 DOID:0110733 neuronal ceroid lipofuscinosis 9 Disease_Ontology DOID:0110734 DOID:0110734 neurodegeneration with brain iron accumulation Disease_Ontology DOID:0110735 DOID:0110735 neurodegeneration with brain iron accumulation 2a Disease_Ontology DOID:0110736 DOID:0110736 neurodegeneration with brain iron accumulation 2b Disease_Ontology DOID:0110737 DOID:0110737 neurodegeneration with brain iron accumulation 3 Disease_Ontology DOID:0110738 DOID:0110738 neurodegeneration with brain iron accumulation 4 Disease_Ontology DOID:0110739 DOID:0110739 neurodegeneration with brain iron accumulation 5 Disease_Ontology DOID:0110740 DOID:0110740 neurodegeneration with brain iron accumulation 6 Disease_Ontology DOID:0110741 DOID:0110741 type 1 diabetes mellitus 2 Disease_Ontology DOID:0110742 DOID:0110742 type 1 diabetes mellitus 3 Disease_Ontology DOID:0110743 DOID:0110743 type 1 diabetes mellitus 4 Disease_Ontology DOID:0110744 DOID:0110744 type 1 diabetes mellitus 5 Disease_Ontology DOID:0110745 DOID:0110745 type 1 diabetes mellitus 6 Disease_Ontology DOID:0110746 DOID:0110746 type 1 diabetes mellitus 7 Disease_Ontology DOID:0110747 DOID:0110747 type 1 diabetes mellitus 8 Disease_Ontology DOID:0110749 DOID:0110749 type 1 diabetes mellitus 10 Disease_Ontology DOID:0110750 DOID:0110750 type 1 diabetes mellitus 11 Disease_Ontology DOID:0110751 DOID:0110751 type 1 diabetes mellitus 12 Disease_Ontology DOID:0110752 DOID:0110752 type 1 diabetes mellitus 13 Disease_Ontology DOID:0110753 DOID:0110753 type 1 diabetes mellitus 15 Disease_Ontology DOID:0110754 DOID:0110754 type 1 diabetes mellitus 17 Disease_Ontology DOID:0110755 DOID:0110755 type 1 diabetes mellitus 18 Disease_Ontology DOID:0110756 DOID:0110756 type 1 diabetes mellitus 19 Disease_Ontology DOID:0110757 DOID:0110757 type 1 diabetes mellitus 20 Disease_Ontology DOID:0110758 DOID:0110758 type 1 diabetes mellitus 21 Disease_Ontology DOID:0110759 DOID:0110759 type 1 diabetes mellitus 22 Disease_Ontology DOID:0110760 DOID:0110760 type 1 diabetes mellitus 23 Disease_Ontology DOID:0110761 DOID:0110761 type 1 diabetes mellitus 24 Disease_Ontology DOID:0110763 DOID:0110763 hereditary spastic paraplegia 10 Disease_Ontology DOID:0110764 DOID:0110764 hereditary spastic paraplegia 11 Disease_Ontology DOID:0110765 DOID:0110765 hereditary spastic paraplegia 12 Disease_Ontology DOID:0110766 DOID:0110766 hereditary spastic paraplegia 13 Disease_Ontology DOID:0110767 DOID:0110767 hereditary spastic paraplegia 14 Disease_Ontology DOID:0110768 DOID:0110768 hereditary spastic paraplegia 15 Disease_Ontology DOID:0110769 DOID:0110769 hereditary spastic paraplegia 16 Disease_Ontology DOID:0110770 DOID:0110770 hereditary spastic paraplegia 17 Disease_Ontology DOID:0110771 DOID:0110771 hereditary spastic paraplegia 18 Disease_Ontology DOID:0110772 DOID:0110772 hereditary spastic paraplegia 19 Disease_Ontology DOID:0110773 DOID:0110773 hereditary spastic paraplegia 2 Disease_Ontology DOID:0110774 DOID:0110774 hereditary spastic paraplegia 23 Disease_Ontology DOID:0110775 DOID:0110775 hereditary spastic paraplegia 24 Disease_Ontology DOID:0110776 DOID:0110776 hereditary spastic paraplegia 25 Disease_Ontology DOID:0110777 DOID:0110777 hereditary spastic paraplegia 26 Disease_Ontology DOID:0110778 DOID:0110778 hereditary spastic paraplegia 27 Disease_Ontology DOID:0110779 DOID:0110779 hereditary spastic paraplegia 28 Disease_Ontology DOID:0110780 DOID:0110780 hereditary spastic paraplegia 29 Disease_Ontology DOID:0110781 DOID:0110781 hereditary spastic paraplegia 30 Disease_Ontology DOID:0110782 DOID:0110782 hereditary spastic paraplegia 31 Disease_Ontology DOID:0110783 DOID:0110783 hereditary spastic paraplegia 32 Disease_Ontology DOID:0110784 DOID:0110784 hereditary spastic paraplegia 33 Disease_Ontology DOID:0110785 DOID:0110785 hereditary spastic paraplegia 34 Disease_Ontology DOID:0110786 DOID:0110786 hereditary spastic paraplegia 35 Disease_Ontology DOID:0110787 DOID:0110787 hereditary spastic paraplegia 36 Disease_Ontology DOID:0110788 DOID:0110788 hereditary spastic paraplegia 37 Disease_Ontology DOID:0110789 DOID:0110789 hereditary spastic paraplegia 38 Disease_Ontology DOID:0110790 DOID:0110790 hereditary spastic paraplegia 39 Disease_Ontology DOID:0110791 DOID:0110791 hereditary spastic paraplegia 3A Disease_Ontology DOID:0110792 DOID:0110792 hereditary spastic paraplegia 4 Disease_Ontology DOID:0110793 DOID:0110793 hereditary spastic paraplegia 41 Disease_Ontology DOID:0110794 DOID:0110794 hereditary spastic paraplegia 42 Disease_Ontology DOID:0110795 DOID:0110795 hereditary spastic paraplegia 43 Disease_Ontology DOID:0110796 DOID:0110796 hereditary spastic paraplegia 44 Disease_Ontology DOID:0110797 DOID:0110797 hereditary spastic paraplegia 45 Disease_Ontology DOID:0110798 DOID:0110798 hereditary spastic paraplegia 46 Disease_Ontology DOID:0110799 DOID:0110799 hereditary spastic paraplegia 47 Disease_Ontology DOID:0110800 DOID:0110800 hereditary spastic paraplegia 48 Disease_Ontology DOID:0110801 DOID:0110801 hereditary sensory and autonomic neuropathy type 9 Disease_Ontology DOID:0110802 DOID:0110802 hereditary spastic paraplegia 50 Disease_Ontology DOID:0110803 DOID:0110803 hereditary spastic paraplegia 51 Disease_Ontology DOID:0110804 DOID:0110804 hereditary spastic paraplegia 52 Disease_Ontology DOID:0110805 DOID:0110805 hereditary spastic paraplegia 53 Disease_Ontology DOID:0110806 DOID:0110806 hereditary spastic paraplegia 54 Disease_Ontology DOID:0110807 DOID:0110807 hereditary spastic paraplegia 55 Disease_Ontology DOID:0110808 DOID:0110808 hereditary spastic paraplegia 56 Disease_Ontology DOID:0110809 DOID:0110809 hereditary spastic paraplegia 57 Disease_Ontology DOID:0110810 DOID:0110810 hereditary spastic paraplegia 5A Disease_Ontology DOID:0110811 DOID:0110811 hereditary spastic paraplegia 6 Disease_Ontology DOID:0110812 DOID:0110812 hereditary spastic paraplegia 61 Disease_Ontology DOID:0110813 DOID:0110813 hereditary spastic paraplegia 62 Disease_Ontology DOID:0110814 DOID:0110814 hereditary spastic paraplegia 63 Disease_Ontology DOID:0110815 DOID:0110815 hereditary spastic paraplegia 64 Disease_Ontology DOID:0110816 DOID:0110816 hereditary spastic paraplegia 7 Disease_Ontology DOID:0110817 DOID:0110817 hereditary spastic paraplegia 72A Disease_Ontology DOID:0110818 DOID:0110818 hereditary spastic paraplegia 73 Disease_Ontology DOID:0110819 DOID:0110819 hereditary spastic paraplegia 74 Disease_Ontology DOID:0110820 DOID:0110820 hereditary spastic paraplegia 75 Disease_Ontology DOID:0110821 DOID:0110821 hereditary spastic paraplegia 76 Disease_Ontology DOID:0110822 DOID:0110822 hereditary spastic paraplegia 77 Disease_Ontology DOID:0110823 DOID:0110823 hereditary spastic paraplegia 8 Disease_Ontology DOID:0110824 DOID:0110824 hereditary spastic paraplegia 9A Disease_Ontology DOID:0110825 DOID:0110825 hereditary spastic paraplegia 9B Disease_Ontology DOID:0110826 DOID:0110826 Usher syndrome type 1 Disease_Ontology DOID:0110827 DOID:0110827 Usher syndrome type 2 Disease_Ontology DOID:0110828 DOID:0110828 Usher syndrome type 3 Disease_Ontology DOID:0110829 DOID:0110829 retinitis pigmentosa-deafness syndrome Disease_Ontology DOID:0110830 DOID:0110830 Usher syndrome type 1C Disease_Ontology DOID:0110831 DOID:0110831 Usher syndrome type 1D Disease_Ontology DOID:0110832 DOID:0110832 Usher syndrome type 1F Disease_Ontology DOID:0110833 DOID:0110833 Usher syndrome type 1E Disease_Ontology DOID:0110834 DOID:0110834 Usher syndrome type 1G Disease_Ontology DOID:0110835 DOID:0110835 Usher syndrome type 1H Disease_Ontology DOID:0110837 DOID:0110837 Usher syndrome type 1K Disease_Ontology DOID:0110838 DOID:0110838 Usher syndrome type 2A Disease_Ontology DOID:0110839 DOID:0110839 Usher syndrome type 2C Disease_Ontology DOID:0110840 DOID:0110840 Usher syndrome type 2D Disease_Ontology DOID:0110841 DOID:0110841 Usher syndrome type 3A Disease_Ontology DOID:0110842 DOID:0110842 Usher syndrome type 3B Disease_Ontology DOID:0110843 DOID:0110843 xeroderma pigmentosum group A Disease_Ontology DOID:0110844 DOID:0110844 xeroderma pigmentosum group C Disease_Ontology DOID:0110845 DOID:0110845 xeroderma pigmentosum group D Disease_Ontology DOID:0110846 DOID:0110846 xeroderma pigmentosum group E Disease_Ontology DOID:0110847 DOID:0110847 xeroderma pigmentosum variant type Disease_Ontology DOID:0110848 DOID:0110848 xeroderma pigmentosum group F Disease_Ontology DOID:0110849 DOID:0110849 xeroderma pigmentosum group G Disease_Ontology DOID:0110850 DOID:0110850 xeroderma pigmentosum group B Disease_Ontology DOID:0110851 DOID:0110851 rhizomelic chondrodysplasia punctata type 1 Disease_Ontology DOID:0110852 DOID:0110852 rhizomelic chondrodysplasia punctata type 2 Disease_Ontology DOID:0110853 DOID:0110853 rhizomelic chondrodysplasia punctata type 3 Disease_Ontology DOID:0110854 DOID:0110854 rhizomelic chondrodysplasia punctata type 5 Disease_Ontology DOID:0110855 DOID:0110855 posterior polymorphous corneal dystrophy 1 Disease_Ontology DOID:0110856 DOID:0110856 posterior polymorphous corneal dystrophy 2 Disease_Ontology DOID:0110857 DOID:0110857 posterior polymorphous corneal dystrophy 3 Disease_Ontology DOID:0110858 DOID:0110858 polycystic kidney disease 1 Disease_Ontology DOID:0110859 DOID:0110859 polycystic kidney disease 2 Disease_Ontology DOID:0110860 DOID:0110860 polycystic kidney disease 3 Disease_Ontology DOID:0110861 DOID:0110861 autosomal recessive polycystic kidney disease Disease_Ontology DOID:0110862 DOID:0110862 congenital stationary night blindness autosomal dominant 1 Disease_Ontology DOID:0110863 DOID:0110863 congenital stationary night blindness autosomal dominant 2 Disease_Ontology DOID:0110864 DOID:0110864 congenital stationary night blindness 1F Disease_Ontology DOID:0110865 DOID:0110865 congenital stationary night blindness 1B Disease_Ontology DOID:0110866 DOID:0110866 congenital stationary night blindness 1H Disease_Ontology DOID:0110867 DOID:0110867 congenital stationary night blindness 1C Disease_Ontology DOID:0110868 DOID:0110868 congenital stationary night blindness 1D Disease_Ontology DOID:0110869 DOID:0110869 congenital stationary night blindness 1E Disease_Ontology DOID:0110870 DOID:0110870 congenital stationary night blindness 1A Disease_Ontology DOID:0110871 DOID:0110871 congenital stationary night blindness 2A Disease_Ontology DOID:0110872 DOID:0110872 holoprosencephaly 2 Disease_Ontology DOID:0110873 DOID:0110873 holoprosencephaly 9 Disease_Ontology DOID:0110874 DOID:0110874 holoprosencephaly 6 Disease_Ontology DOID:0110875 DOID:0110875 holoprosencephaly 3 Disease_Ontology DOID:0110876 DOID:0110876 holoprosencephaly 7 Disease_Ontology DOID:0110877 DOID:0110877 holoprosencephaly 11 Disease_Ontology DOID:0110878 DOID:0110878 holoprosencephaly 5 Disease_Ontology DOID:0110879 DOID:0110879 holoprosencephaly 8 Disease_Ontology DOID:0110880 DOID:0110880 holoprosencephaly 4 Disease_Ontology DOID:0110881 DOID:0110881 holoprosencephaly 1 Disease_Ontology DOID:0110882 DOID:0110882 inflammatory bowel disease 7 Disease_Ontology DOID:0110883 DOID:0110883 inflammatory bowel disease 17 Disease_Ontology DOID:0110884 DOID:0110884 inflammatory bowel disease 23 Disease_Ontology DOID:0110885 DOID:0110885 inflammatory bowel disease 10 Disease_Ontology DOID:0110886 DOID:0110886 inflammatory bowel disease 9 Disease_Ontology DOID:0110887 DOID:0110887 inflammatory bowel disease 12 Disease_Ontology DOID:0110888 DOID:0110888 inflammatory bowel disease 18 Disease_Ontology DOID:0110889 DOID:0110889 inflammatory bowel disease 5 Disease_Ontology DOID:0110890 DOID:0110890 inflammatory bowel disease 19 Disease_Ontology DOID:0110891 DOID:0110891 inflammatory bowel disease 3 Disease_Ontology DOID:0110892 DOID:0110892 inflammatory bowel disease 1 Disease_Ontology DOID:0110893 DOID:0110893 inflammatory bowel disease 13 Disease_Ontology DOID:0110894 DOID:0110894 inflammatory bowel disease 11 Disease_Ontology DOID:0110895 DOID:0110895 inflammatory bowel disease 14 Disease_Ontology DOID:0110896 DOID:0110896 inflammatory bowel disease 16 Disease_Ontology DOID:0110897 DOID:0110897 inflammatory bowel disease 15 Disease_Ontology DOID:0110898 DOID:0110898 inflammatory bowel disease 20 Disease_Ontology DOID:0110899 DOID:0110899 inflammatory bowel disease 28 Disease_Ontology DOID:0110900 DOID:0110900 inflammatory bowel disease 2 Disease_Ontology DOID:0110901 DOID:0110901 inflammatory bowel disease 26 Disease_Ontology DOID:0110902 DOID:0110902 inflammatory bowel disease 27 Disease_Ontology DOID:0110903 DOID:0110903 inflammatory bowel disease 4 Disease_Ontology DOID:0110904 DOID:0110904 inflammatory bowel disease 8 Disease_Ontology DOID:0110905 DOID:0110905 inflammatory bowel disease 22 Disease_Ontology DOID:0110906 DOID:0110906 inflammatory bowel disease 21 Disease_Ontology DOID:0110907 DOID:0110907 inflammatory bowel disease 6 Disease_Ontology DOID:0110908 DOID:0110908 inflammatory bowel disease 24 Disease_Ontology DOID:0110909 DOID:0110909 inflammatory bowel disease 25 Disease_Ontology DOID:0110910 DOID:0110910 leukocyte adhesion deficiency 1 Disease_Ontology DOID:0110912 DOID:0110912 leukocyte adhesion deficiency 3 Disease_Ontology DOID:0110913 DOID:0110913 adult hypophosphatasia Disease_Ontology DOID:0110914 DOID:0110914 infantile hypophosphatasia Disease_Ontology DOID:0110915 DOID:0110915 childhood hypophosphatasia Disease_Ontology DOID:0110916 DOID:0110916 hereditary spherocytosis type 1 Disease_Ontology DOID:0110917 DOID:0110917 hereditary spherocytosis type 2 Disease_Ontology DOID:0110918 DOID:0110918 hereditary spherocytosis type 3 Disease_Ontology DOID:0110919 DOID:0110919 hereditary spherocytosis type 4 Disease_Ontology DOID:0110920 DOID:0110920 hereditary spherocytosis type 5 Disease_Ontology DOID:0110921 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 Disease_Ontology DOID:0110922 DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 Disease_Ontology DOID:0110923 DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 Disease_Ontology DOID:0110924 DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 Disease_Ontology DOID:0110925 DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 Disease_Ontology DOID:0110926 DOID:0110926 congenital myopathy 4B Disease_Ontology DOID:0110927 DOID:0110927 nemaline myopathy 3 Disease_Ontology DOID:0110928 DOID:0110928 nemaline myopathy 2 Disease_Ontology DOID:0110929 DOID:0110929 nemaline myopathy 9 Disease_Ontology DOID:0110930 DOID:0110930 nemaline myopathy 8 Disease_Ontology DOID:0110931 DOID:0110931 nemaline myopathy 10 Disease_Ontology DOID:0110932 DOID:0110932 congenital myopathy 23 Disease_Ontology DOID:0110933 DOID:0110933 nemaline myopathy 11 Disease_Ontology DOID:0110934 DOID:0110934 nemaline myopathy 7 Disease_Ontology DOID:0110935 DOID:0110935 nemaline myopathy 6 Disease_Ontology DOID:0110936 DOID:0110936 nemaline myopathy 5A Disease_Ontology DOID:0110937 DOID:0110937 autosomal dominant osteopetrosis 1 Disease_Ontology DOID:0110938 DOID:0110938 autosomal dominant osteopetrosis 2 Disease_Ontology DOID:0110939 DOID:0110939 autosomal recessive osteopetrosis 5 Disease_Ontology DOID:0110940 DOID:0110940 autosomal recessive osteopetrosis 8 Disease_Ontology DOID:0110941 DOID:0110941 autosomal recessive osteopetrosis 3 Disease_Ontology DOID:0110942 DOID:0110942 autosomal recessive osteopetrosis 1 Disease_Ontology DOID:0110943 DOID:0110943 autosomal recessive osteopetrosis 2 Disease_Ontology DOID:0110944 DOID:0110944 autosomal recessive osteopetrosis 4 Disease_Ontology DOID:0110945 DOID:0110945 autosomal recessive osteopetrosis 6 Disease_Ontology DOID:0110946 DOID:0110946 autosomal recessive osteopetrosis 7 Disease_Ontology DOID:0110947 DOID:0110947 Waardenburg syndrome type 2B Disease_Ontology DOID:0110948 DOID:0110948 Waardenburg syndrome type 1 Disease_Ontology DOID:0110949 DOID:0110949 Waardenburg syndrome type 3 Disease_Ontology DOID:0110950 DOID:0110950 Waardenburg syndrome type 2A Disease_Ontology DOID:0110951 DOID:0110951 Waardenburg syndrome type 2C Disease_Ontology DOID:0110953 DOID:0110953 Waardenburg syndrome type 4A Disease_Ontology DOID:0110954 DOID:0110954 Waardenburg syndrome type 4B Disease_Ontology DOID:0110955 DOID:0110955 Waardenburg syndrome type 4C Disease_Ontology DOID:0110956 DOID:0110956 Waardenburg syndrome type 2E Disease_Ontology DOID:0110957 DOID:0110957 Gaucher's disease type I Disease_Ontology DOID:0110958 DOID:0110958 Gaucher's disease type II Disease_Ontology DOID:0110959 DOID:0110959 Gaucher's disease type III Disease_Ontology DOID:0110960 DOID:0110960 Gaucher's disease perinatal lethal Disease_Ontology DOID:0110961 DOID:0110961 atypical Gaucher's disease due to saposin c deficiency Disease_Ontology DOID:0110962 DOID:0110962 brachydactyly-preaxial hallux varus syndrome Disease_Ontology DOID:0110963 DOID:0110963 Ballard syndrome Disease_Ontology DOID:0110964 DOID:0110964 brachydactyly type A1 Disease_Ontology DOID:0110965 DOID:0110965 brachydactyly type A2 Disease_Ontology DOID:0110966 DOID:0110966 brachydactyly type A3 Disease_Ontology DOID:0110967 DOID:0110967 brachydactyly type A4 Disease_Ontology DOID:0110968 DOID:0110968 brachydactyly type A6 Disease_Ontology DOID:0110969 DOID:0110969 brachydactyly type B1 Disease_Ontology DOID:0110970 DOID:0110970 brachydactyly type C Disease_Ontology DOID:0110971 DOID:0110971 brachydactyly type D Disease_Ontology DOID:0110972 DOID:0110972 brachydactyly type E1 Disease_Ontology DOID:0110973 DOID:0110973 Mononen-Karnes-Senac syndrome Disease_Ontology DOID:0110974 DOID:0110974 brachydactyly type A1B Disease_Ontology DOID:0110975 DOID:0110975 brachydactyly type B2 Disease_Ontology DOID:0110976 DOID:0110976 brachydactyly type E2 Disease_Ontology DOID:0110977 DOID:0110977 brachydactyly type A1C Disease_Ontology DOID:0110978 DOID:0110978 brachydactyly type A1D Disease_Ontology DOID:0110979 DOID:0110979 Sugarman brachydactyly Disease_Ontology DOID:0110980 DOID:0110980 Joubert syndrome 1 Disease_Ontology DOID:0110981 DOID:0110981 Joubert syndrome 10 Disease_Ontology DOID:0110982 DOID:0110982 Joubert syndrome 13 Disease_Ontology DOID:0110983 DOID:0110983 Joubert syndrome 14 Disease_Ontology DOID:0110984 DOID:0110984 Joubert syndrome 15 Disease_Ontology DOID:0110985 DOID:0110985 Joubert syndrome 16 Disease_Ontology DOID:0110986 DOID:0110986 Joubert syndrome 17 Disease_Ontology DOID:0110987 DOID:0110987 Joubert syndrome 18 Disease_Ontology DOID:0110988 DOID:0110988 Joubert syndrome 2 Disease_Ontology DOID:0110989 DOID:0110989 Joubert syndrome 20 Disease_Ontology DOID:0110990 DOID:0110990 Joubert syndrome 21 Disease_Ontology DOID:0110991 DOID:0110991 Joubert syndrome 22 Disease_Ontology DOID:0110992 DOID:0110992 Joubert syndrome 23 Disease_Ontology DOID:0110993 DOID:0110993 Joubert syndrome 24 Disease_Ontology DOID:0110994 DOID:0110994 Joubert syndrome 25 Disease_Ontology DOID:0110995 DOID:0110995 Joubert syndrome 26 Disease_Ontology DOID:0110996 DOID:0110996 Joubert syndrome 27 Disease_Ontology DOID:0110997 DOID:0110997 Joubert syndrome 28 Disease_Ontology DOID:0110998 DOID:0110998 Joubert syndrome 3 Disease_Ontology DOID:0110999 DOID:0110999 Joubert syndrome 4 Disease_Ontology DOID:0111000 DOID:0111000 Joubert syndrome 5 Disease_Ontology DOID:0111001 DOID:0111001 Joubert syndrome 6 Disease_Ontology DOID:0111002 DOID:0111002 Joubert syndrome 7 Disease_Ontology DOID:0111003 DOID:0111003 Joubert syndrome 8 Disease_Ontology DOID:0111004 DOID:0111004 Joubert syndrome 9 Disease_Ontology DOID:0111005 DOID:0111005 cone-rod dystrophy 2 Disease_Ontology DOID:0111006 DOID:0111006 X-linked cone-rod dystrophy 2 Disease_Ontology DOID:0111007 DOID:0111007 X-linked cone-rod dystrophy 3 Disease_Ontology DOID:0111008 DOID:0111008 X-linked cone-rod dystrophy 1 Disease_Ontology DOID:0111009 DOID:0111009 cone-rod dystrophy 1 Disease_Ontology DOID:0111010 DOID:0111010 cone-rod dystrophy 5 Disease_Ontology DOID:0111011 DOID:0111011 cone-rod dystrophy 6 Disease_Ontology DOID:0111012 DOID:0111012 cone-rod dystrophy 7 Disease_Ontology DOID:0111013 DOID:0111013 cone-rod dystrophy 3 Disease_Ontology DOID:0111014 DOID:0111014 cone-rod dystrophy 8 Disease_Ontology DOID:0111015 DOID:0111015 Newfoundland cone-rod dystrophy Disease_Ontology DOID:0111016 DOID:0111016 cone-rod dystrophy 13 Disease_Ontology DOID:0111017 DOID:0111017 cone-rod dystrophy 10 Disease_Ontology DOID:0111018 DOID:0111018 cone-rod dystrophy 11 Disease_Ontology DOID:0111019 DOID:0111019 cone-rod dystrophy 12 Disease_Ontology DOID:0111020 DOID:0111020 cone-rod dystrophy 9 Disease_Ontology DOID:0111021 DOID:0111021 cone-rod dystrophy 15 Disease_Ontology DOID:0111022 DOID:0111022 cone-rod dystrophy 16 Disease_Ontology DOID:0111023 DOID:0111023 cone-rod dystrophy 17 Disease_Ontology DOID:0111024 DOID:0111024 cone-rod dystrophy 18 Disease_Ontology DOID:0111025 DOID:0111025 cone-rod dystrophy 19 Disease_Ontology DOID:0111026 DOID:0111026 cone-rod dystrophy 20 Disease_Ontology DOID:0111027 DOID:0111027 hemochromatosis type 2A Disease_Ontology DOID:0111028 DOID:0111028 hemochromatosis type 4 Disease_Ontology DOID:0111029 DOID:0111029 hemochromatosis type 1 Disease_Ontology DOID:0111030 DOID:0111030 hemochromatosis type 3 Disease_Ontology DOID:0111031 DOID:0111031 hemochromatosis type 5 Disease_Ontology DOID:0111032 DOID:0111032 hemochromatosis type 2B Disease_Ontology DOID:0111033 DOID:0111033 African iron overload Disease_Ontology DOID:0111034 DOID:0111034 hemochromatosis type 2 Disease_Ontology DOID:0111035 DOID:0111035 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 Disease_Ontology DOID:0111036 DOID:0111036 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 Disease_Ontology DOID:0111037 DOID:0111037 glycine N-methyltransferase deficiency Disease_Ontology DOID:0111038 DOID:0111038 hypermethioninemia due to adenosine kinase deficiency Disease_Ontology DOID:0111039 DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Disease_Ontology DOID:0111040 DOID:0111040 glycogen storage disease IXd Disease_Ontology DOID:0111041 DOID:0111041 glycogen storage disease IXb Disease_Ontology DOID:0111042 DOID:0111042 glycogen storage disease IXa1 Disease_Ontology DOID:0111043 DOID:0111043 glycogen storage disease IXc Disease_Ontology DOID:0111044 DOID:0111044 gray platelet syndrome Disease_Ontology DOID:0111045 DOID:0111045 platelet-type bleeding disorder 9 Disease_Ontology DOID:0111046 DOID:0111046 platelet-type bleeding disorder 10 Disease_Ontology DOID:0111047 DOID:0111047 platelet-type bleeding disorder 14 Disease_Ontology DOID:0111048 DOID:0111048 platelet-type bleeding disorder 19 Disease_Ontology DOID:0111049 DOID:0111049 platelet-type bleeding disorder 17 Disease_Ontology DOID:0111050 DOID:0111050 Quebec platelet disorder Disease_Ontology DOID:0111051 DOID:0111051 platelet-type bleeding disorder 18 Disease_Ontology DOID:0111052 DOID:0111052 Scott syndrome Disease_Ontology DOID:0111053 DOID:0111053 platelet-type bleeding disorder 15 Disease_Ontology DOID:0111054 DOID:0111054 von Willebrand's disease 3 Disease_Ontology DOID:0111055 DOID:0111055 platelet-type bleeding disorder 20 Disease_Ontology DOID:0111056 DOID:0111056 platelet-type bleeding disorder 3 Disease_Ontology DOID:0111057 DOID:0111057 platelet-type bleeding disorder 11 Disease_Ontology DOID:0111058 DOID:0111058 platelet-type bleeding disorder 12 Disease_Ontology DOID:0111059 DOID:0111059 Bernard-Soulier syndrome type A2 Disease_Ontology DOID:0111060 DOID:0111060 Ambras type hypertrichosis universalis congenita Disease_Ontology DOID:0111061 DOID:0111061 familial hypobetalipoproteinemia 2 Disease_Ontology DOID:0111062 DOID:0111062 familial hypobetalipoproteinemia 1 Disease_Ontology DOID:0111063 DOID:0111063 hyperphosphatemic familial tumoral calcinosis Disease_Ontology DOID:0111064 DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 Disease_Ontology DOID:0111065 DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 Disease_Ontology DOID:0111066 DOID:0111066 congenital bile acid synthesis defect 5 Disease_Ontology DOID:0111067 DOID:0111067 congenital bile acid synthesis defect 6 Disease_Ontology DOID:0111068 DOID:0111068 congenital bile acid synthesis defect 4 Disease_Ontology DOID:0111069 DOID:0111069 congenital bile acid synthesis defect 2 Disease_Ontology DOID:0111070 DOID:0111070 congenital bile acid synthesis defect 3 Disease_Ontology DOID:0111071 DOID:0111071 congenital bile acid synthesis defect 1 Disease_Ontology DOID:0111072 DOID:0111072 myostatin-related muscle hypertrophy Disease_Ontology DOID:0111073 DOID:0111073 progressive familial heart block Disease_Ontology DOID:0111074 DOID:0111074 progressive familial heart block type IA Disease_Ontology DOID:0111075 DOID:0111075 progressive familial heart block type II Disease_Ontology DOID:0111076 DOID:0111076 progressive familial heart block type IB Disease_Ontology DOID:0111077 DOID:0111077 congenital nonspherocytic hemolytic anemia 2 Disease_Ontology DOID:0111078 DOID:0111078 tibial muscular dystrophy Disease_Ontology DOID:0111079 DOID:0111079 birdshot chorioretinopathy Disease_Ontology DOID:0111080 DOID:0111080 Fanconi anemia complementation group V Disease_Ontology DOID:0111081 DOID:0111081 Fanconi anemia complementation group T Disease_Ontology DOID:0111082 DOID:0111082 Fanconi anemia complementation group L Disease_Ontology DOID:0111083 DOID:0111083 Fanconi anemia complementation group D2 Disease_Ontology DOID:0111084 DOID:0111084 Fanconi anemia complementation group E Disease_Ontology DOID:0111085 DOID:0111085 Fanconi anemia complementation group U Disease_Ontology DOID:0111086 DOID:0111086 Fanconi anemia complementation group G Disease_Ontology DOID:0111087 DOID:0111087 Fanconi anemia complementation group C Disease_Ontology DOID:0111088 DOID:0111088 Fanconi anemia complementation group F Disease_Ontology DOID:0111089 DOID:0111089 Fanconi anemia complementation group D1 Disease_Ontology DOID:0111090 DOID:0111090 Fanconi anemia complementation group R Disease_Ontology DOID:0111091 DOID:0111091 Fanconi anemia complementation group I Disease_Ontology DOID:0111092 DOID:0111092 Fanconi anemia complementation group P Disease_Ontology DOID:0111093 DOID:0111093 Fanconi anemia complementation group Q Disease_Ontology DOID:0111094 DOID:0111094 Fanconi anemia complementation group N Disease_Ontology DOID:0111095 DOID:0111095 Fanconi anemia complementation group A Disease_Ontology DOID:0111096 DOID:0111096 Fanconi anemia complementation group O Disease_Ontology DOID:0111097 DOID:0111097 Fanconi anemia complementation group J Disease_Ontology DOID:0111098 DOID:0111098 Fanconi anemia complementation group B Disease_Ontology DOID:0111099 DOID:0111099 maturity-onset diabetes of the young type 1 Disease_Ontology DOID:0111100 DOID:0111100 maturity-onset diabetes of the young type 2 Disease_Ontology DOID:0111101 DOID:0111101 renal cysts and diabetes syndrome Disease_Ontology DOID:0111102 DOID:0111102 maturity-onset diabetes of the young type 3 Disease_Ontology DOID:0111103 DOID:0111103 maturity-onset diabetes of the young type 4 Disease_Ontology DOID:0111104 DOID:0111104 maturity-onset diabetes of the young type 6 Disease_Ontology DOID:0111105 DOID:0111105 maturity-onset diabetes of the young type 8 Disease_Ontology DOID:0111106 DOID:0111106 maturity-onset diabetes of the young type 7 Disease_Ontology DOID:0111107 DOID:0111107 maturity-onset diabetes of the young type 9 Disease_Ontology DOID:0111108 DOID:0111108 maturity-onset diabetes of the young type 10 Disease_Ontology DOID:0111109 DOID:0111109 maturity-onset diabetes of the young type 11 Disease_Ontology DOID:0111110 DOID:0111110 maturity-onset diabetes of the young type 13 Disease_Ontology DOID:0111111 DOID:0111111 maturity-onset diabetes of the young type 14 Disease_Ontology DOID:0111112 DOID:0111112 nephronophthisis 1 Disease_Ontology DOID:0111113 DOID:0111113 nephronophthisis 2 Disease_Ontology DOID:0111114 DOID:0111114 nephronophthisis 3 Disease_Ontology DOID:0111115 DOID:0111115 nephronophthisis 4 Disease_Ontology DOID:0111116 DOID:0111116 nephronophthisis 7 Disease_Ontology DOID:0111117 DOID:0111117 nephronophthisis-like nephropathy 1 Disease_Ontology DOID:0111118 DOID:0111118 nephronophthisis 11 Disease_Ontology DOID:0111119 DOID:0111119 nephronophthisis 12 Disease_Ontology DOID:0111120 DOID:0111120 nephronophthisis 9 Disease_Ontology DOID:0111121 DOID:0111121 nephronophthisis 13 Disease_Ontology DOID:0111122 DOID:0111122 nephronophthisis 14 Disease_Ontology DOID:0111123 DOID:0111123 nephronophthisis 15 Disease_Ontology DOID:0111124 DOID:0111124 nephronophthisis 16 Disease_Ontology DOID:0111125 DOID:0111125 nephronophthisis 18 Disease_Ontology DOID:0111126 DOID:0111126 nephronophthisis 19 Disease_Ontology DOID:0111127 DOID:0111127 nephronophthisis 20 Disease_Ontology DOID:0111128 DOID:0111128 focal segmental glomerulosclerosis 1 Disease_Ontology DOID:0111129 DOID:0111129 focal segmental glomerulosclerosis 2 Disease_Ontology DOID:0111130 DOID:0111130 focal segmental glomerulosclerosis 5 Disease_Ontology DOID:0111131 DOID:0111131 focal segmental glomerulosclerosis 6 Disease_Ontology DOID:0111132 DOID:0111132 focal segmental glomerulosclerosis 7 Disease_Ontology DOID:0111133 DOID:0111133 focal segmental glomerulosclerosis 8 Disease_Ontology DOID:0111134 DOID:0111134 focal segmental glomerulosclerosis 9 Disease_Ontology DOID:0111135 DOID:0111135 congenital generalized lipodystrophy type 1 Disease_Ontology DOID:0111136 DOID:0111136 congenital generalized lipodystrophy type 2 Disease_Ontology DOID:0111137 DOID:0111137 congenital generalized lipodystrophy type 3 Disease_Ontology DOID:0111138 DOID:0111138 congenital generalized lipodystrophy type 4 Disease_Ontology DOID:0111139 DOID:0111139 mitochondrial complex III deficiency Disease_Ontology DOID:0111140 DOID:0111140 IGSF1 deficiency syndrome Disease_Ontology DOID:0111141 DOID:0111141 delayed sleep phase syndrome Disease_Ontology DOID:0111142 DOID:0111142 oligomeganephronia Disease_Ontology DOID:0111143 DOID:0111143 mitochondrial complex V (ATP synthase) deficiency Disease_Ontology DOID:0111144 DOID:0111144 preterm premature rupture of the membranes Disease_Ontology DOID:0111145 DOID:0111145 ureteropelvic junction obstruction Disease_Ontology DOID:0111146 DOID:0111146 acquired von Willebrand syndrome Disease_Ontology DOID:0111147 DOID:0111147 angioimmunoblastic T-cell lymphoma Disease_Ontology DOID:0111148 DOID:0111148 isolated ectopia lentis Disease_Ontology DOID:0111149 DOID:0111149 autosomal recessive isolated ectopia lentis 2 Disease_Ontology DOID:0111150 DOID:0111150 autosomal dominant isolated ectopia lentis 1 Disease_Ontology DOID:0111151 DOID:0111151 Prinzmetal angina Disease_Ontology DOID:0111152 DOID:0111152 multicentric Castleman disease Disease_Ontology DOID:0111153 DOID:0111153 congenital mirror movement disorder Disease_Ontology DOID:0111154 DOID:0111154 postural orthostatic tachycardia syndrome Disease_Ontology DOID:0111155 DOID:0111155 autosomal recessive spinocerebellar ataxia 21 Disease_Ontology DOID:0111156 DOID:0111156 spermatogenic failure 9 Disease_Ontology DOID:0111157 DOID:0111157 Castleman disease Disease_Ontology DOID:0111158 DOID:0111158 SADDAN Disease_Ontology DOID:0111159 DOID:0111159 partial trisomy distal 4q Disease_Ontology DOID:0111160 DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome Disease_Ontology DOID:0111161 DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome Disease_Ontology DOID:0111162 DOID:0111162 epidermal nevus Disease_Ontology DOID:0111163 DOID:0111163 molybdenum cofactor deficiency type B Disease_Ontology DOID:0111164 DOID:0111164 molybdenum cofactor deficiency type A Disease_Ontology DOID:0111165 DOID:0111165 molybdenum cofactor deficiency Disease_Ontology DOID:0111166 DOID:0111166 molybdenum cofactor deficiency type C Disease_Ontology DOID:0111167 DOID:0111167 Dyggve-Melchior-Clausen disease Disease_Ontology DOID:0111168 DOID:0111168 sepiapterin reductase deficiency Disease_Ontology DOID:0111169 DOID:0111169 subcortical band heterotopia Disease_Ontology DOID:0111170 DOID:0111170 autosomal dominant sensory ataxia 1 Disease_Ontology DOID:0111180 DOID:0111180 French Canadian Leigh disease Disease_Ontology DOID:0111181 DOID:0111181 familial hemiplegic migraine 1 Disease_Ontology DOID:0111182 DOID:0111182 familial hemiplegic migraine 2 Disease_Ontology DOID:0111183 DOID:0111183 familial hemiplegic migraine 3 Disease_Ontology DOID:0111184 DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 Disease_Ontology DOID:0111185 DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 Disease_Ontology DOID:0111186 DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 Disease_Ontology DOID:0111187 DOID:0111187 distal myopathy with anterior tibial onset Disease_Ontology DOID:0111188 DOID:0111188 myofibrillar myopathy 9 Disease_Ontology DOID:0111189 DOID:0111189 distal myopathy 3 Disease_Ontology DOID:0111190 DOID:0111190 distal myopathy 4 Disease_Ontology DOID:0111191 DOID:0111191 distal myopathy Tateyama type Disease_Ontology DOID:0111192 DOID:0111192 facioscapulohumeral muscular dystrophy 1 Disease_Ontology DOID:0111193 DOID:0111193 facioscapulohumeral muscular dystrophy 2 Disease_Ontology DOID:0111194 DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy Disease_Ontology DOID:0111195 DOID:0111195 erythrokeratodermia variabilis et progressiva 1 Disease_Ontology DOID:0111196 DOID:0111196 X-linked distal spinal muscular atrophy 3 Disease_Ontology DOID:0111197 DOID:0111197 autosomal recessive distal hereditary motor neuronopathy Disease_Ontology DOID:0111198 DOID:0111198 autosomal dominant distal hereditary motor neuronopathy Disease_Ontology DOID:0111199 DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 Disease_Ontology DOID:0111200 DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 Disease_Ontology DOID:0111202 DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 Disease_Ontology DOID:0111203 DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 Disease_Ontology DOID:0111205 DOID:0111205 autosomal dominant distal hereditary motor neuronopathy 12 Disease_Ontology DOID:0111206 DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 Disease_Ontology DOID:0111207 DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 Disease_Ontology DOID:0111209 DOID:0111209 autosomal dominant distal hereditary motor neuronopathy 4 Disease_Ontology DOID:0111210 DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 Disease_Ontology DOID:0111211 DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 Disease_Ontology DOID:0111212 DOID:0111212 autosomal dominant distal hereditary motor neuronopathy 9 Disease_Ontology DOID:0111213 DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 Disease_Ontology DOID:0111214 DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 Disease_Ontology DOID:0111215 DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 Disease_Ontology DOID:0111216 DOID:0111216 autosomal recessive centronuclear myopathy Disease_Ontology DOID:0111217 DOID:0111217 autosomal dominant centronuclear myopathy Disease_Ontology DOID:0111218 DOID:0111218 Friedreich ataxia 1 Disease_Ontology DOID:0111219 DOID:0111219 Friedreich ataxia 2 Disease_Ontology DOID:0111220 DOID:0111220 centronuclear myopathy 2 Disease_Ontology DOID:0111221 DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion Disease_Ontology DOID:0111222 DOID:0111222 centronuclear myopathy 5 Disease_Ontology DOID:0111223 DOID:0111223 centronuclear myopathy 1 Disease_Ontology DOID:0111224 DOID:0111224 centronuclear myopathy 4 Disease_Ontology DOID:0111225 DOID:0111225 centronuclear myopathy X-linked Disease_Ontology DOID:0111226 DOID:0111226 X-linked congenital myopathy with fiber-type disproportion Disease_Ontology DOID:0111227 DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Disease_Ontology DOID:0111228 DOID:0111228 Sveinsson chorioretinal atrophy Disease_Ontology DOID:0111229 DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A Disease_Ontology DOID:0111230 DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 Disease_Ontology DOID:0111231 DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 Disease_Ontology DOID:0111232 DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 Disease_Ontology DOID:0111233 DOID:0111233 congenital muscular dystrophy-dystroglycanopathy type A14 Disease_Ontology DOID:0111234 DOID:0111234 congenital muscular dystrophy-dystroglycanopathy type A7 Disease_Ontology DOID:0111235 DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 Disease_Ontology DOID:0111236 DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 Disease_Ontology DOID:0111237 DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 Disease_Ontology DOID:0111238 DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 Disease_Ontology DOID:0111239 DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 Disease_Ontology DOID:0111240 DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 Disease_Ontology DOID:0111241 DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 Disease_Ontology DOID:0111242 DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 Disease_Ontology DOID:0111243 DOID:0111243 acromicric dysplasia Disease_Ontology DOID:0111244 DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 Disease_Ontology DOID:0111245 DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 Disease_Ontology DOID:0111246 DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 Disease_Ontology DOID:0111247 DOID:0111247 hypertension and brachydactyly syndrome Disease_Ontology DOID:0111248 DOID:0111248 cerebrocostomandibular syndrome Disease_Ontology DOID:0111249 DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability Disease_Ontology DOID:0111250 DOID:0111250 Parkinson's disease 3 Disease_Ontology DOID:0111251 DOID:0111251 Parkinson's disease 21 Disease_Ontology DOID:0111252 DOID:0111252 vestibular schwannomatosis Disease_Ontology DOID:0111253 DOID:0111253 neurofibromatosis 1 Disease_Ontology DOID:0111254 DOID:0111254 glutaric acidemia I Disease_Ontology DOID:0111255 DOID:0111255 McKusick-Kaufman syndrome Disease_Ontology DOID:0111256 DOID:0111256 hyperferritinemia-cataract syndrome Disease_Ontology DOID:0111257 DOID:0111257 gamma-glutamyl transpeptidase deficiency Disease_Ontology DOID:0111258 DOID:0111258 pentosuria Disease_Ontology DOID:0111259 DOID:0111259 postaxial acrofacial dysostosis Disease_Ontology DOID:0111260 DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity Disease_Ontology DOID:0111261 DOID:0111261 fumarase deficiency Disease_Ontology DOID:0111262 DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Disease_Ontology DOID:0111263 DOID:0111263 combined malonic and methylmalonic acidemia Disease_Ontology DOID:0111264 DOID:0111264 Ruijs-Aalfs syndrome Disease_Ontology DOID:0111265 DOID:0111265 Boucher-Neuhauser syndrome Disease_Ontology DOID:0111266 DOID:0111266 geroderma osteodysplasticum Disease_Ontology DOID:0111267 DOID:0111267 hyaline body myopathy Disease_Ontology DOID:0111268 DOID:0111268 autosomal recessive hyaline body myopathy Disease_Ontology DOID:0111269 DOID:0111269 autosomal dominant hyaline body myopathy Disease_Ontology DOID:0111270 DOID:0111270 isolated sulfite oxidase deficiency Disease_Ontology DOID:0111271 DOID:0111271 Oliver-McFarlane syndrome Disease_Ontology DOID:0111272 DOID:0111272 occipital horn syndrome Disease_Ontology DOID:0111273 DOID:0111273 NARP syndrome Disease_Ontology DOID:0111274 DOID:0111274 CODAS syndrome Disease_Ontology DOID:0111275 DOID:0111275 speech-language disorder-1 Disease_Ontology DOID:0111276 DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Disease_Ontology DOID:0111277 DOID:0111277 mitochondrial trifunctional protein deficiency Disease_Ontology DOID:0111278 DOID:0111278 histiocytosis-lymphadenopathy plus syndrome Disease_Ontology DOID:0111279 DOID:0111279 psoriasis 7 Disease_Ontology DOID:0111280 DOID:0111280 psoriasis 4 Disease_Ontology DOID:0111281 DOID:0111281 psoriasis 15 Disease_Ontology DOID:0111282 DOID:0111282 psoriasis 5 Disease_Ontology DOID:0111283 DOID:0111283 psoriasis 3 Disease_Ontology DOID:0111284 DOID:0111284 psoriasis 9 Disease_Ontology DOID:0111285 DOID:0111285 psoriasis 11 Disease_Ontology DOID:0111286 DOID:0111286 psoriasis 1 Disease_Ontology DOID:0111287 DOID:0111287 psoriasis 13 Disease_Ontology DOID:0111288 DOID:0111288 psoriasis 8 Disease_Ontology DOID:0111289 DOID:0111289 psoriasis 10 Disease_Ontology DOID:0111290 DOID:0111290 psoriasis 6 Disease_Ontology DOID:0111291 DOID:0111291 psoriasis 12 Disease_Ontology DOID:0111293 DOID:0111293 generalized epilepsy with febrile seizures plus 4 Disease_Ontology DOID:0111294 DOID:0111294 generalized epilepsy with febrile seizures plus 2 Disease_Ontology DOID:0111295 DOID:0111295 generalized epilepsy with febrile seizures plus 7 Disease_Ontology DOID:0111296 DOID:0111296 generalized epilepsy with febrile seizures plus 10 Disease_Ontology DOID:0111297 DOID:0111297 familial febrile seizures Disease_Ontology DOID:0111298 DOID:0111298 familial febrile seizures 8 Disease_Ontology DOID:0111299 DOID:0111299 generalized epilepsy with febrile seizures plus 8 Disease_Ontology DOID:0111300 DOID:0111300 generalized epilepsy with febrile seizures plus 6 Disease_Ontology DOID:0111301 DOID:0111301 generalized epilepsy with febrile seizures plus 9 Disease_Ontology DOID:0111302 DOID:0111302 generalized epilepsy with febrile seizures plus 1 Disease_Ontology DOID:0111303 DOID:0111303 familial febrile seizures 9 Disease_Ontology DOID:0111304 DOID:0111304 familial febrile seizures 10 Disease_Ontology DOID:0111305 DOID:0111305 familial febrile seizures 4 Disease_Ontology DOID:0111306 DOID:0111306 familial febrile seizures 5 Disease_Ontology DOID:0111307 DOID:0111307 familial febrile seizures 1 Disease_Ontology DOID:0111308 DOID:0111308 familial febrile seizures 11 Disease_Ontology DOID:0111309 DOID:0111309 familial febrile seizures 6 Disease_Ontology DOID:0111310 DOID:0111310 familial febrile seizures 2 Disease_Ontology DOID:0111311 DOID:0111311 familial febrile seizures 7 Disease_Ontology DOID:0111324 DOID:0111324 juvenile absence epilepsy 1 Disease_Ontology DOID:0111325 DOID:0111325 juvenile myoclonic epilepsy 10 Disease_Ontology DOID:0111326 DOID:0111326 juvenile myoclonic epilepsy 3 Disease_Ontology DOID:0111327 DOID:0111327 juvenile myoclonic epilepsy 4 Disease_Ontology DOID:0111328 DOID:0111328 juvenile myoclonic epilepsy 9 Disease_Ontology DOID:0111329 DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency Disease_Ontology DOID:0111330 DOID:0111330 combined saposin deficiency Disease_Ontology DOID:0111331 DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome Disease_Ontology DOID:0111332 DOID:0111332 Pitt-Hopkins-like syndrome 2 Disease_Ontology DOID:0111333 DOID:0111333 congenital myopathy 10A Disease_Ontology DOID:0111334 DOID:0111334 congenital leptin deficiency Disease_Ontology DOID:0111335 DOID:0111335 myopathy with extrapyramidal signs Disease_Ontology DOID:0111336 DOID:0111336 craniofacial-deafness-hand syndrome Disease_Ontology DOID:0111337 DOID:0111337 Jackson-Weiss syndrome Disease_Ontology DOID:0111338 DOID:0111338 isolated elevated serum creatine phosphokinase levels Disease_Ontology DOID:0111339 DOID:0111339 Vohwinkel syndrome Disease_Ontology DOID:0111340 DOID:0111340 dominant optic atrophy plus syndrome Disease_Ontology DOID:0111341 DOID:0111341 primary failure of tooth eruption Disease_Ontology DOID:0111342 DOID:0111342 dermatopathia pigmentosa reticularis Disease_Ontology DOID:0111343 DOID:0111343 lateral meningocele syndrome Disease_Ontology DOID:0111344 DOID:0111344 myeloproliferative disorder with eosinophilia Disease_Ontology DOID:0111345 DOID:0111345 transient bullous dermolysis of the newborn Disease_Ontology DOID:0111346 DOID:0111346 epidermolysis bullosa simplex 2F with mottled pigmentation Disease_Ontology DOID:0111347 DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails Disease_Ontology DOID:0111348 DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness Disease_Ontology DOID:0111349 DOID:0111349 hereditary desmoid disease Disease_Ontology DOID:0111350 DOID:0111350 Laurin-Sandrow syndrome Disease_Ontology DOID:0111351 DOID:0111351 D-2-hydroxyglutaric aciduria 1 Disease_Ontology DOID:0111352 DOID:0111352 D-2-hydroxyglutaric aciduria 2 Disease_Ontology DOID:0111353 DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 Disease_Ontology DOID:0111354 DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 Disease_Ontology DOID:0111355 DOID:0111355 hydrolethalus syndrome 1 Disease_Ontology DOID:0111356 DOID:0111356 hydrolethalus syndrome 2 Disease_Ontology DOID:0111357 DOID:0111357 adermatoglyphia Disease_Ontology DOID:0111358 DOID:0111358 Floating-Harbor syndrome Disease_Ontology DOID:0111359 DOID:0111359 large congenital melanocytic nevus Disease_Ontology DOID:0111360 DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Disease_Ontology DOID:0111361 DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome Disease_Ontology DOID:0111362 DOID:0111362 hawkinsinuria Disease_Ontology DOID:0111363 DOID:0111363 Heinz body anemia Disease_Ontology DOID:0111364 DOID:0111364 Alzheimer's disease 9 Disease_Ontology DOID:0111365 DOID:0111365 benign familial hematuria Disease_Ontology DOID:0111366 DOID:0111366 familial hepatic adenoma Disease_Ontology DOID:0111367 DOID:0111367 Beukes hip dysplasia Disease_Ontology DOID:0111368 DOID:0111368 cholesterol-ester transfer protein deficiency Disease_Ontology DOID:0111369 DOID:0111369 hyperalphalipoproteinemia 1 Disease_Ontology DOID:0111370 DOID:0111370 apolipoprotein C-III deficiency Disease_Ontology DOID:0111371 DOID:0111371 isolated hyperchlorhidrosis Disease_Ontology DOID:0111373 DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation Disease_Ontology DOID:0111374 DOID:0111374 selective pituitary thyroid hormone resistance Disease_Ontology DOID:0111375 DOID:0111375 fetal akinesia deformation sequence syndrome Disease_Ontology DOID:0111376 DOID:0111376 fetal akinesia deformation sequence syndrome 3 Disease_Ontology DOID:0111377 DOID:0111377 fetal akinesia deformation sequence syndrome 1 Disease_Ontology DOID:0111378 DOID:0111378 fetal akinesia deformation sequence syndrome 2 Disease_Ontology DOID:0111379 DOID:0111379 fetal akinesia deformation sequence syndrome 4 Disease_Ontology DOID:0111380 DOID:0111380 solitary median maxillary central incisor Disease_Ontology DOID:0111381 DOID:0111381 IVIC syndrome Disease_Ontology DOID:0111382 DOID:0111382 ischiocoxopodopatellar syndrome Disease_Ontology DOID:0111383 DOID:0111383 autosomal dominant keratitis Disease_Ontology DOID:0111384 DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Disease_Ontology DOID:0111385 DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Disease_Ontology DOID:0111386 DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Disease_Ontology DOID:0111387 DOID:0111387 familial isolated hypoparathyroidism Disease_Ontology DOID:0111388 DOID:0111388 X-linked hypoparathyroidism Disease_Ontology DOID:0111389 DOID:0111389 mucopolysaccharidosis Ih/s Disease_Ontology DOID:0111390 DOID:0111390 mucopolysaccharidosis Ih Disease_Ontology DOID:0111391 DOID:0111391 mucopolysaccharidosis IVA Disease_Ontology DOID:0111392 DOID:0111392 mucopolysaccharidosis type IVB Disease_Ontology DOID:0111393 DOID:0111393 mucopolysaccharidosis type IIIC Disease_Ontology DOID:0111394 DOID:0111394 mucopolysaccharidosis type IIIB Disease_Ontology DOID:0111395 DOID:0111395 mucopolysaccharidosis type IIIA Disease_Ontology DOID:0111396 DOID:0111396 congenital dyserythropoietic anemia type I Disease_Ontology DOID:0111397 DOID:0111397 congenital dyserythropoietic anemia type Ib Disease_Ontology DOID:0111398 DOID:0111398 congenital dyserythropoietic anemia type Ia Disease_Ontology DOID:0111399 DOID:0111399 congenital dyserythropoietic anemia type IIIa Disease_Ontology DOID:0111400 DOID:0111400 congenital dyserythropoietic anemia type IVa Disease_Ontology DOID:0111401 DOID:0111401 congenital dyserythropoietic anemia type II Disease_Ontology DOID:0111402 DOID:0111402 mucopolysaccharidosis type IIID Disease_Ontology DOID:0111403 DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Disease_Ontology DOID:0111404 DOID:0111404 Jalili syndrome Disease_Ontology DOID:0111405 DOID:0111405 Fraser syndrome 1 Disease_Ontology DOID:0111406 DOID:0111406 Fraser syndrome 3 Disease_Ontology DOID:0111407 DOID:0111407 Fraser syndrome 2 Disease_Ontology DOID:0111408 DOID:0111408 exudative vitreoretinopathy 5 Disease_Ontology DOID:0111409 DOID:0111409 exudative vitreoretinopathy 3 Disease_Ontology DOID:0111410 DOID:0111410 exudative vitreoretinopathy 6 Disease_Ontology DOID:0111411 DOID:0111411 exudative vitreoretinopathy 4 Disease_Ontology DOID:0111412 DOID:0111412 exudative vitreoretinopathy 1 Disease_Ontology DOID:0111413 DOID:0111413 X-linked exudative vitreoretinopathy 2 Disease_Ontology DOID:0111414 DOID:0111414 trichohepatoenteric syndrome Disease_Ontology DOID:0111415 DOID:0111415 trichohepatoenteric syndrome 1 Disease_Ontology DOID:0111416 DOID:0111416 trichohepatoenteric syndrome 2 Disease_Ontology DOID:0111417 DOID:0111417 familial chylomicronemia syndrome Disease_Ontology DOID:0111418 DOID:0111418 familial apolipoprotein C-II deficiency Disease_Ontology DOID:0111419 DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity Disease_Ontology DOID:0111420 DOID:0111420 familial GPIHBP1 deficiency Disease_Ontology DOID:0111421 DOID:0111421 familial apolipoprotein A5 deficiency Disease_Ontology DOID:0111422 DOID:0111422 familial lipase maturation factor 1 deficiency Disease_Ontology DOID:0111423 DOID:0111423 branchiootorenal syndrome 1 Disease_Ontology DOID:0111424 DOID:0111424 branchiootorenal syndrome 2 Disease_Ontology DOID:0111425 DOID:0111425 familial restrictive cardiomyopathy 1 Disease_Ontology DOID:0111426 DOID:0111426 familial restrictive cardiomyopathy 2 Disease_Ontology DOID:0111427 DOID:0111427 familial restrictive cardiomyopathy 3 Disease_Ontology DOID:0111428 DOID:0111428 essential tremor 1 Disease_Ontology DOID:0111429 DOID:0111429 essential tremor 2 Disease_Ontology DOID:0111430 DOID:0111430 essential tremor 3 Disease_Ontology DOID:0111431 DOID:0111431 essential tremor 4 Disease_Ontology DOID:0111432 DOID:0111432 essential tremor 5 Disease_Ontology DOID:0111433 DOID:0111433 optic atrophy 3 Disease_Ontology DOID:0111434 DOID:0111434 optic atrophy 10 Disease_Ontology DOID:0111435 DOID:0111435 optic atrophy 6 Disease_Ontology DOID:0111436 DOID:0111436 optic atrophy 11 Disease_Ontology DOID:0111437 DOID:0111437 optic atrophy 7 Disease_Ontology DOID:0111438 DOID:0111438 optic atrophy 5 Disease_Ontology DOID:0111439 DOID:0111439 optic atrophy 8 Disease_Ontology DOID:0111440 DOID:0111440 optic atrophy 4 Disease_Ontology DOID:0111441 DOID:0111441 optic atrophy 1 Disease_Ontology DOID:0111442 DOID:0111442 optic atrophy 9 Disease_Ontology DOID:0111443 DOID:0111443 optic atrophy 2 Disease_Ontology DOID:0111444 DOID:0111444 progressive myoclonus epilepsy 4 Disease_Ontology DOID:0111445 DOID:0111445 progressive myoclonus epilepsy 10 Disease_Ontology DOID:0111446 DOID:0111446 progressive myoclonus epilepsy 3 Disease_Ontology DOID:0111447 DOID:0111447 progressive myoclonus epilepsy 7 Disease_Ontology DOID:0111448 DOID:0111448 progressive myoclonus epilepsy 1B Disease_Ontology DOID:0111449 DOID:0111449 progressive myoclonus epilepsy 6 Disease_Ontology DOID:0111450 DOID:0111450 progressive myoclonus epilepsy 9 Disease_Ontology DOID:0111451 DOID:0111451 progressive myoclonus epilepsy 8 Disease_Ontology DOID:0111452 DOID:0111452 progressive myoclonus epilepsy 1A Disease_Ontology DOID:0111453 DOID:0111453 2-aminoadipic 2-oxoadipic aciduria Disease_Ontology DOID:0111454 DOID:0111454 SHORT syndrome Disease_Ontology DOID:0111455 DOID:0111455 GRACILE syndrome Disease_Ontology DOID:0111456 DOID:0111456 Kaufman oculocerebrofacial syndrome Disease_Ontology DOID:0111457 DOID:0111457 STING-associated vasculopathy with onset in infancy Disease_Ontology DOID:0111458 DOID:0111458 galactose epimerase deficiency Disease_Ontology DOID:0111459 DOID:0111459 classic galactosemia Disease_Ontology DOID:0111460 DOID:0111460 cardiofaciocutaneous syndrome 1 Disease_Ontology DOID:0111461 DOID:0111461 cardiofaciocutaneous syndrome 2 Disease_Ontology DOID:0111462 DOID:0111462 cardiofaciocutaneous syndrome 3 Disease_Ontology DOID:0111463 DOID:0111463 cardiofaciocutaneous syndrome 4 Disease_Ontology DOID:0111464 DOID:0111464 combined oxidative phosphorylation deficiency 35 Disease_Ontology DOID:0111465 DOID:0111465 combined oxidative phosphorylation deficiency 21 Disease_Ontology DOID:0111466 DOID:0111466 combined oxidative phosphorylation deficiency 38 Disease_Ontology DOID:0111467 DOID:0111467 combined oxidative phosphorylation deficiency 13 Disease_Ontology DOID:0111468 DOID:0111468 combined oxidative phosphorylation deficiency 25 Disease_Ontology DOID:0111469 DOID:0111469 combined oxidative phosphorylation deficiency 16 Disease_Ontology DOID:0111470 DOID:0111470 combined oxidative phosphorylation deficiency 28 Disease_Ontology DOID:0111471 DOID:0111471 combined oxidative phosphorylation deficiency 30 Disease_Ontology DOID:0111472 DOID:0111472 combined oxidative phosphorylation deficiency 9 Disease_Ontology DOID:0111473 DOID:0111473 combined oxidative phosphorylation deficiency 5 Disease_Ontology DOID:0111474 DOID:0111474 combined oxidative phosphorylation deficiency 1 Disease_Ontology DOID:0111475 DOID:0111475 combined oxidative phosphorylation deficiency 39 Disease_Ontology DOID:0111476 DOID:0111476 combined oxidative phosphorylation deficiency 19 Disease_Ontology DOID:0111477 DOID:0111477 combined oxidative phosphorylation deficiency 14 Disease_Ontology DOID:0111478 DOID:0111478 combined oxidative phosphorylation deficiency 20 Disease_Ontology DOID:0111479 DOID:0111479 combined oxidative phosphorylation deficiency 8 Disease_Ontology DOID:0111480 DOID:0111480 combined oxidative phosphorylation deficiency 10 Disease_Ontology DOID:0111481 DOID:0111481 combined oxidative phosphorylation deficiency 11 Disease_Ontology DOID:0111482 DOID:0111482 combined oxidative phosphorylation deficiency 36 Disease_Ontology DOID:0111483 DOID:0111483 combined oxidative phosphorylation deficiency 2 Disease_Ontology DOID:0111484 DOID:0111484 combined oxidative phosphorylation deficiency 18 Disease_Ontology DOID:0111485 DOID:0111485 combined oxidative phosphorylation deficiency 24 Disease_Ontology DOID:0111486 DOID:0111486 combined oxidative phosphorylation deficiency 3 Disease_Ontology DOID:0111487 DOID:0111487 combined oxidative phosphorylation deficiency 7 Disease_Ontology DOID:0111488 DOID:0111488 combined oxidative phosphorylation deficiency 31 Disease_Ontology DOID:0111489 DOID:0111489 combined oxidative phosphorylation deficiency 27 Disease_Ontology DOID:0111490 DOID:0111490 combined oxidative phosphorylation deficiency 26 Disease_Ontology DOID:0111491 DOID:0111491 combined oxidative phosphorylation deficiency 15 Disease_Ontology DOID:0111492 DOID:0111492 combined oxidative phosphorylation deficiency 32 Disease_Ontology DOID:0111493 DOID:0111493 combined oxidative phosphorylation deficiency 12 Disease_Ontology DOID:0111494 DOID:0111494 combined oxidative phosphorylation deficiency 4 Disease_Ontology DOID:0111495 DOID:0111495 combined oxidative phosphorylation deficiency 33 Disease_Ontology DOID:0111496 DOID:0111496 combined oxidative phosphorylation deficiency 17 Disease_Ontology DOID:0111497 DOID:0111497 combined oxidative phosphorylation deficiency 34 Disease_Ontology DOID:0111498 DOID:0111498 combined oxidative phosphorylation deficiency 22 Disease_Ontology DOID:0111499 DOID:0111499 combined oxidative phosphorylation deficiency 37 Disease_Ontology DOID:0111500 DOID:0111500 combined oxidative phosphorylation deficiency 23 Disease_Ontology DOID:0111501 DOID:0111501 combined oxidative phosphorylation deficiency 29 Disease_Ontology DOID:0111502 DOID:0111502 combined oxidative phosphorylation deficiency 6 Disease_Ontology DOID:0111503 DOID:0111503 Li-Fraumeni syndrome 1 Disease_Ontology DOID:0111504 DOID:0111504 Li-Fraumeni syndrome 2 Disease_Ontology DOID:0111505 DOID:0111505 palmoplantar keratoderma-deafness syndrome Disease_Ontology DOID:0111506 DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome Disease_Ontology DOID:0111507 DOID:0111507 Lenz-Majewski hyperostotic dwarfism Disease_Ontology DOID:0111508 DOID:0111508 Torrance type platyspondylic dysplasia Disease_Ontology DOID:0111509 DOID:0111509 lymphedema-distichiasis syndrome Disease_Ontology DOID:0111510 DOID:0111510 Marshall syndrome Disease_Ontology DOID:0111511 DOID:0111511 melanoma and neural system tumor syndrome Disease_Ontology DOID:0111512 DOID:0111512 metachondromatosis Disease_Ontology DOID:0111513 DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Disease_Ontology DOID:0111514 DOID:0111514 metatropic dysplasia Disease_Ontology DOID:0111515 DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Disease_Ontology DOID:0111516 DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 Disease_Ontology DOID:0111517 DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Disease_Ontology DOID:0111518 DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 Disease_Ontology DOID:0111519 DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 Disease_Ontology DOID:0111520 DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Disease_Ontology DOID:0111521 DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 Disease_Ontology DOID:0111522 DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 Disease_Ontology DOID:0111523 DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Disease_Ontology DOID:0111524 DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 Disease_Ontology DOID:0111525 DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 Disease_Ontology DOID:0111526 DOID:0111526 Mullerian aplasia and hyperandrogenism Disease_Ontology DOID:0111527 DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy Disease_Ontology DOID:0111528 DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome Disease_Ontology DOID:0111529 DOID:0111529 familial multiple nevi flammei Disease_Ontology DOID:0111530 DOID:0111530 linear nevus sebaceous syndrome Disease_Ontology DOID:0111531 DOID:0111531 bilateral optic nerve hypoplasia Disease_Ontology DOID:0111532 DOID:0111532 osteoglophonic dysplasia Disease_Ontology DOID:0111533 DOID:0111533 gnathodiaphyseal dysplasia Disease_Ontology DOID:0111534 DOID:0111534 multicentric carpotarsal osteolysis syndrome Disease_Ontology DOID:0111535 DOID:0111535 progressive osseous heteroplasia Disease_Ontology DOID:0111536 DOID:0111536 Buschke-Ollendorff syndrome Disease_Ontology DOID:0111537 DOID:0111537 paroxysmal extreme pain disorder Disease_Ontology DOID:0111538 DOID:0111538 paramyotonia congenita of Von Eulenburg Disease_Ontology DOID:0111539 DOID:0111539 parastremmatic dwarfism Disease_Ontology DOID:0111540 DOID:0111540 prolidase deficiency Disease_Ontology DOID:0111541 DOID:0111541 pigmented paravenous chorioretinal atrophy Disease_Ontology DOID:0111542 DOID:0111542 familial expansile osteolysis Disease_Ontology DOID:0111543 DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Disease_Ontology DOID:0111544 DOID:0111544 Guttmacher syndrome Disease_Ontology DOID:0111545 DOID:0111545 familial male-limited precocious puberty Disease_Ontology DOID:0111546 DOID:0111546 Currarino syndrome Disease_Ontology DOID:0111547 DOID:0111547 retinal arterial tortuosity Disease_Ontology DOID:0111548 DOID:0111548 ring dermoid of cornea Disease_Ontology DOID:0111549 DOID:0111549 aplasia of lacrimal and salivary glands Disease_Ontology DOID:0111550 DOID:0111550 scalp-ear-nipple syndrome Disease_Ontology DOID:0111551 DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type Disease_Ontology DOID:0111552 DOID:0111552 scapuloperoneal spinal muscular atrophy Disease_Ontology DOID:0111553 DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type Disease_Ontology DOID:0111554 DOID:0111554 spondylometaphyseal dysplasia Kozlowski type Disease_Ontology DOID:0111555 DOID:0111555 Alkuraya-Kucinskas syndrome Disease_Ontology DOID:0111556 DOID:0111556 steatocystoma multiplex Disease_Ontology DOID:0111557 DOID:0111557 Charcot-Marie-Tooth disease type 2A2B Disease_Ontology DOID:0111558 DOID:0111558 Charcot-Marie-Tooth disease type 2DD Disease_Ontology DOID:0111559 DOID:0111559 Charcot-Marie-Tooth disease type 2EE Disease_Ontology DOID:0111560 DOID:0111560 Charcot-Marie-Tooth disease type 1G Disease_Ontology DOID:0111561 DOID:0111561 stiff skin syndrome Disease_Ontology DOID:0111562 DOID:0111562 overhydrated hereditary stomatocytosis Disease_Ontology DOID:0111563 DOID:0111563 Sturge-Weber syndrome Disease_Ontology DOID:0111564 DOID:0111564 hypoplastic or aplastic tibia with polydactyly Disease_Ontology DOID:0111565 DOID:0111565 trichodontoosseous syndrome Disease_Ontology DOID:0111566 DOID:0111566 familial isolated trichomegaly Disease_Ontology DOID:0111567 DOID:0111567 retinal vasculopathy with cerebral leukodystrophy Disease_Ontology DOID:0111568 DOID:0111568 congenital vertical talus Disease_Ontology DOID:0111569 DOID:0111569 autosomal dominant vitreoretinochoroidopathy Disease_Ontology DOID:0111570 DOID:0111570 snowflake vitreoretinal degeneration Disease_Ontology DOID:0111571 DOID:0111571 Weyers acrofacial dysostosis Disease_Ontology DOID:0111572 DOID:0111572 familial woolly hair syndrome Disease_Ontology DOID:0111573 DOID:0111573 autosomal dominant woolly hair Disease_Ontology DOID:0111574 DOID:0111574 autosomal recessive woolly hair 3 Disease_Ontology DOID:0111575 DOID:0111575 dehydrated hereditary stomatocytosis Disease_Ontology DOID:0111576 DOID:0111576 dehydrated hereditary stomatocytosis 1 Disease_Ontology DOID:0111577 DOID:0111577 dehydrated hereditary stomatocytosis 2 Disease_Ontology DOID:0111578 DOID:0111578 Gillespie syndrome Disease_Ontology DOID:0111579 DOID:0111579 asthma, nasal polyps, and aspirin intolerance Disease_Ontology DOID:0111580 DOID:0111580 Behr syndrome Disease_Ontology DOID:0111581 DOID:0111581 C syndrome Disease_Ontology DOID:0111582 DOID:0111582 hereditary arterial and articular multiple calcification syndrome Disease_Ontology DOID:0111583 DOID:0111583 carboxypeptidase N deficiency Disease_Ontology DOID:0111584 DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Disease_Ontology DOID:0111585 DOID:0111585 carnitine-acylcarnitine translocase deficiency Disease_Ontology DOID:0111586 DOID:0111586 Martsolf syndrome Disease_Ontology DOID:0111587 DOID:0111587 Gordon Holmes syndrome Disease_Ontology DOID:0111588 DOID:0111588 Greenberg dysplasia Disease_Ontology DOID:0111589 DOID:0111589 COACH syndrome Disease_Ontology DOID:0111590 DOID:0111590 Cohen syndrome Disease_Ontology DOID:0111591 DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly Disease_Ontology DOID:0111592 DOID:0111592 plasminogen deficiency type I Disease_Ontology DOID:0111593 DOID:0111593 distal arthrogryposis type 10 Disease_Ontology DOID:0111594 DOID:0111594 distal arthrogryposis type 5D Disease_Ontology DOID:0111595 DOID:0111595 congenital contractural arachnodactyly Disease_Ontology DOID:0111596 DOID:0111596 distal arthrogryposis type 1 Disease_Ontology DOID:0111597 DOID:0111597 distal arthrogryposis type 1A Disease_Ontology DOID:0111598 DOID:0111598 distal arthrogryposis type 1B Disease_Ontology DOID:0111599 DOID:0111599 distal arthrogryposis type 2B Disease_Ontology DOID:0111600 DOID:0111600 distal arthrogryposis type 2B1 Disease_Ontology DOID:0111601 DOID:0111601 distal arthrogryposis type 2B2 Disease_Ontology DOID:0111602 DOID:0111602 distal arthrogryposis type 2B3 Disease_Ontology DOID:0111603 DOID:0111603 distal arthrogryposis type 7 Disease_Ontology DOID:0111604 DOID:0111604 Freeman-Sheldon syndrome Disease_Ontology DOID:0111605 DOID:0111605 distal arthrogryposis type 2A Disease_Ontology DOID:0111606 DOID:0111606 autosomal recessive Whistling face syndrome Disease_Ontology DOID:0111607 DOID:0111607 distal arthrogryposis type 3 Disease_Ontology DOID:0111608 DOID:0111608 distal arthrogryposis type 5 Disease_Ontology DOID:0111609 DOID:0111609 distal arthrogryposis type 6 Disease_Ontology DOID:0111610 DOID:0111610 distal arthrogryposis type 4 Disease_Ontology DOID:0111611 DOID:0111611 autosomal recessive spinocerebellar ataxia 4 Disease_Ontology DOID:0111613 DOID:0111613 autosomal recessive spinocerebellar ataxia 23 Disease_Ontology DOID:0111614 DOID:0111614 autosomal recessive spinocerebellar ataxia 22 Disease_Ontology DOID:0111615 DOID:0111615 autosomal recessive spinocerebellar ataxia 24 Disease_Ontology DOID:0111616 DOID:0111616 autosomal recessive spinocerebellar ataxia 27 Disease_Ontology DOID:0111617 DOID:0111617 autosomal recessive spinocerebellar ataxia 6 Disease_Ontology DOID:0111618 DOID:0111618 autosomal recessive spinocerebellar ataxia 8 Disease_Ontology DOID:0111619 DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria Disease_Ontology DOID:0111620 DOID:0111620 corneal dystrophy-perceptive deafness syndrome Disease_Ontology DOID:0111621 DOID:0111621 Temtamy syndrome Disease_Ontology DOID:0111622 DOID:0111622 ACTH-independent macronodular adrenal hyperplasia Disease_Ontology DOID:0111623 DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 Disease_Ontology DOID:0111624 DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 Disease_Ontology DOID:0111625 DOID:0111625 ventriculomegaly - cystic kidney disease Disease_Ontology DOID:0111626 DOID:0111626 D-glyceric aciduria Disease_Ontology DOID:0111627 DOID:0111627 DOORS syndrome Disease_Ontology DOID:0111628 DOID:0111628 high myopia-sensorineural deafness syndrome Disease_Ontology DOID:0111629 DOID:0111629 dihydropyrimidinase deficiency Disease_Ontology DOID:0111630 DOID:0111630 familial erythrocytosis 8 Disease_Ontology DOID:0111631 DOID:0111631 familial erythrocytosis 7 Disease_Ontology DOID:0111632 DOID:0111632 familial erythrocytosis 6 Disease_Ontology DOID:0111633 DOID:0111633 congenital sucrase-isomaltase deficiency Disease_Ontology DOID:0111634 DOID:0111634 autosomal recessive nonsyndromic deafness 99 Disease_Ontology DOID:0111635 DOID:0111635 autosomal recessive nonsyndromic deafness 57 Disease_Ontology DOID:0111636 DOID:0111636 autosomal recessive nonsyndromic deafness 113 Disease_Ontology DOID:0111637 DOID:0111637 autosomal recessive nonsyndromic deafness 112 Disease_Ontology DOID:0111638 DOID:0111638 autosomal recessive nonsyndromic deafness 100 Disease_Ontology DOID:0111639 DOID:0111639 autosomal recessive nonsyndromic deafness 109 Disease_Ontology DOID:0111640 DOID:0111640 autosomal recessive nonsyndromic deafness 111 Disease_Ontology DOID:0111641 DOID:0111641 autosomal recessive nonsyndromic deafness 94 Disease_Ontology DOID:0111642 DOID:0111642 autosomal recessive nonsyndromic deafness 114 Disease_Ontology DOID:0111643 DOID:0111643 autosomal recessive nonsyndromic deafness 115 Disease_Ontology DOID:0111644 DOID:0111644 autosomal recessive nonsyndromic deafness 110 Disease_Ontology DOID:0111645 DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Disease_Ontology DOID:0111646 DOID:0111646 congenital lactase deficiency Disease_Ontology DOID:0111647 DOID:0111647 Schopf-Schulz-Passarge syndrome Disease_Ontology DOID:0111648 DOID:0111648 ectopia lentis with ectopia of pupil Disease_Ontology DOID:0111649 DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Disease_Ontology DOID:0111650 DOID:0111650 ectodermal dysplasia 13 Disease_Ontology DOID:0111651 DOID:0111651 ectodermal dysplasia 15 Disease_Ontology DOID:0111652 DOID:0111652 ectodermal dysplasia 12 Disease_Ontology DOID:0111653 DOID:0111653 ectodermal dysplasia 11A Disease_Ontology DOID:0111654 DOID:0111654 ectodermal dysplasia 11B Disease_Ontology DOID:0111655 DOID:0111655 pure hair and nail ectodermal dysplasia Disease_Ontology DOID:0111656 DOID:0111656 ectodermal dysplasia 9 Disease_Ontology DOID:0111657 DOID:0111657 ectodermal dysplasia 5 Disease_Ontology DOID:0111658 DOID:0111658 ectodermal dysplasia 4 Disease_Ontology DOID:0111659 DOID:0111659 ectodermal dysplasia 6 Disease_Ontology DOID:0111660 DOID:0111660 ectodermal dysplasia 7 Disease_Ontology DOID:0111661 DOID:0111661 ectodermal dysplasia 8 Disease_Ontology DOID:0111662 DOID:0111662 ectodermal dysplasia 14 Disease_Ontology DOID:0111663 DOID:0111663 ectodermal dysplasia 10A Disease_Ontology DOID:0111664 DOID:0111664 ectodermal dysplasia 1 Disease_Ontology DOID:0111665 DOID:0111665 ectodermal dysplasia 10B Disease_Ontology DOID:0111666 DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Disease_Ontology DOID:0111667 DOID:0111667 enterokinase deficiency Disease_Ontology DOID:0111668 DOID:0111668 Kohlschutter-Tonz syndrome Disease_Ontology DOID:0111669 DOID:0111669 hyaline fibromatosis syndrome Disease_Ontology DOID:0111670 DOID:0111670 primary hyperoxaluria type 1 Disease_Ontology DOID:0111671 DOID:0111671 primary hyperoxaluria type 2 Disease_Ontology DOID:0111672 DOID:0111672 primary hyperoxaluria type 3 Disease_Ontology DOID:0111673 DOID:0111673 Saul-Wilson syndrome Disease_Ontology DOID:0111674 DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities Disease_Ontology DOID:0111675 DOID:0111675 neurooculocardiogenitourinary syndrome Disease_Ontology DOID:0111676 DOID:0111676 high molecular weight kininogen deficiency Disease_Ontology DOID:0111677 DOID:0111677 familial benign fleck retina Disease_Ontology DOID:0111678 DOID:0111678 hereditary folate malabsorption Disease_Ontology DOID:0111679 DOID:0111679 glutamate formiminotransferase deficiency Disease_Ontology DOID:0111680 DOID:0111680 essential fructosuria Disease_Ontology DOID:0111681 DOID:0111681 congenital nonspherocytic hemolytic anemia 7 Disease_Ontology DOID:0111682 DOID:0111682 cystic renal dysplasia Disease_Ontology DOID:0111683 DOID:0111683 neurofibromatosis-Noonan syndrome Disease_Ontology DOID:0111684 DOID:0111684 hereditary mixed polyposis syndrome Disease_Ontology DOID:0111685 DOID:0111685 hereditary mixed polyposis syndrome 1 Disease_Ontology DOID:0111686 DOID:0111686 hereditary mixed polyposis syndrome 2 Disease_Ontology DOID:0111687 DOID:0111687 Potocki-Shaffer syndrome Disease_Ontology DOID:0111688 DOID:0111688 Ayme-Gripp syndrome Disease_Ontology DOID:0111689 DOID:0111689 familial adult myoclonic epilepsy Disease_Ontology DOID:0111690 DOID:0111690 familial adult myoclonic epilepsy 1 Disease_Ontology DOID:0111691 DOID:0111691 familial adult myoclonic epilepsy 5 Disease_Ontology DOID:0111692 DOID:0111692 familial adult myoclonic epilepsy 2 Disease_Ontology DOID:0111693 DOID:0111693 familial adult myoclonic epilepsy 4 Disease_Ontology DOID:0111694 DOID:0111694 familial adult myoclonic epilepsy 7 Disease_Ontology DOID:0111695 DOID:0111695 familial adult myoclonic epilepsy 3 Disease_Ontology DOID:0111696 DOID:0111696 familial adult myoclonic epilepsy 6 Disease_Ontology DOID:0111697 DOID:0111697 cleft palate, cardiac defects, and intellectual disability Disease_Ontology DOID:0111698 DOID:0111698 proprotein convertase 1/3 deficiency Disease_Ontology DOID:0111699 DOID:0111699 Van den Ende-Gupta syndrome Disease_Ontology DOID:0111700 DOID:0111700 ankyrin-B-related cardiac arrhythmia Disease_Ontology DOID:0111701 DOID:0111701 long QT syndrome 4 Disease_Ontology DOID:0111702 DOID:0111702 loose anagen hair syndrome Disease_Ontology DOID:0111703 DOID:0111703 familial hypertryptophanemia Disease_Ontology DOID:0111704 DOID:0111704 chromosome 2q37 deletion syndrome Disease_Ontology DOID:0111705 DOID:0111705 oculoectodermal syndrome Disease_Ontology DOID:0111706 DOID:0111706 oblique facial clefting 1 Disease_Ontology DOID:0111707 DOID:0111707 Bothnian type palmoplantar keratoderma Disease_Ontology DOID:0111708 DOID:0111708 focal nonepidermolytic palmoplantar keratoderma Disease_Ontology DOID:0111709 DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 Disease_Ontology DOID:0111710 DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma Disease_Ontology DOID:0111711 DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 Disease_Ontology DOID:0111712 DOID:0111712 Kagami-Ogata syndrome Disease_Ontology DOID:0111713 DOID:0111713 Temple syndrome Disease_Ontology DOID:0111714 DOID:0111714 Mulchandani-Bhoj-Conlin syndrome Disease_Ontology DOID:0111715 DOID:0111715 Schaaf-Yang syndrome Disease_Ontology DOID:0111716 DOID:0111716 cryptophthalmia Disease_Ontology DOID:0111717 DOID:0111717 isolated cryptophthalmia Disease_Ontology DOID:0111718 DOID:0111718 partial cryptophthalmia Disease_Ontology DOID:0111719 DOID:0111719 complete cryptophthalmia Disease_Ontology DOID:0111720 DOID:0111720 congenital symblepharon Disease_Ontology DOID:0111721 DOID:0111721 amelogenesis imperfecta type 3 Disease_Ontology DOID:0111722 DOID:0111722 amelogenesis imperfecta type 3C Disease_Ontology DOID:0111723 DOID:0111723 Jacobsen Syndrome Disease_Ontology DOID:0111724 DOID:0111724 geleophysic dysplasia Disease_Ontology DOID:0111725 DOID:0111725 geleophysic dysplasia 1 Disease_Ontology DOID:0111726 DOID:0111726 geleophysic dysplasia 2 Disease_Ontology DOID:0111727 DOID:0111727 geleophysic dysplasia 3 Disease_Ontology DOID:0111728 DOID:0111728 familial episodic pain syndrome Disease_Ontology DOID:0111729 DOID:0111729 familial episodic pain syndrome 1 Disease_Ontology DOID:0111730 DOID:0111730 familial episodic pain syndrome 2 Disease_Ontology DOID:0111731 DOID:0111731 familial episodic pain syndrome 3 Disease_Ontology DOID:0111732 DOID:0111732 Eiken syndrome Disease_Ontology DOID:0111733 DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome Disease_Ontology DOID:0111734 DOID:0111734 aminoglycoside-induced deafness Disease_Ontology DOID:0111735 DOID:0111735 X-linked deafness 4 Disease_Ontology DOID:0111736 DOID:0111736 X-linked deafness 3 Disease_Ontology DOID:0111737 DOID:0111737 X-linked deafness 2 Disease_Ontology DOID:0111738 DOID:0111738 X-linked deafness 7 Disease_Ontology DOID:0111739 DOID:0111739 X-linked deafness 1 Disease_Ontology DOID:0111740 DOID:0111740 X-linked deafness 6 Disease_Ontology DOID:0111741 DOID:0111741 X-linked deafness 5 Disease_Ontology DOID:0111742 DOID:0111742 cerebellar ataxia type 42 Disease_Ontology DOID:0111743 DOID:0111743 cerebellar ataxia type 47 Disease_Ontology DOID:0111744 DOID:0111744 cerebellar ataxia type 41 Disease_Ontology DOID:0111745 DOID:0111745 cerebellar ataxia type 43 Disease_Ontology DOID:0111746 DOID:0111746 cerebellar ataxia type 48 Disease_Ontology DOID:0111747 DOID:0111747 cerebellar ataxia type 9 Disease_Ontology DOID:0111748 DOID:0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 Disease_Ontology DOID:0111749 DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 Disease_Ontology DOID:0111750 DOID:0111750 adult-onset ataxia and polyneuropathy Disease_Ontology DOID:0111751 DOID:0111751 mitochondrial nonsyndromic sensorineural deafness Disease_Ontology DOID:0111752 DOID:0111752 autosomal-mitochondrial sensorineural deafness Disease_Ontology DOID:0111753 DOID:0111753 infantile hypertrophic cardiomyopathy Disease_Ontology DOID:0111754 DOID:0111754 Leber plus disease Disease_Ontology DOID:0111755 DOID:0111755 Leber hereditary optic neuropathy and dystonia Disease_Ontology DOID:0111756 DOID:0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS Disease_Ontology DOID:0111757 DOID:0111757 Y-linked deafness Disease_Ontology DOID:0111758 DOID:0111758 Y-linked deafness 2 Disease_Ontology DOID:0111759 DOID:0111759 Y-linked deafness 1 Disease_Ontology DOID:0111760 DOID:0111760 46,XX sex reversal Disease_Ontology DOID:0111761 DOID:0111761 46,XX sex reversal 1 Disease_Ontology DOID:0111762 DOID:0111762 46,XX sex reversal 3 Disease_Ontology DOID:0111763 DOID:0111763 46,XX sex reversal 2 Disease_Ontology DOID:0111764 DOID:0111764 46,XX sex reversal 4 Disease_Ontology DOID:0111765 DOID:0111765 X-linked cardiac valvular dysplasia Disease_Ontology DOID:0111766 DOID:0111766 X-linked VACTERL association Disease_Ontology DOID:0111767 DOID:0111767 X-linked thrombocytopenia with beta-thalassemia Disease_Ontology DOID:0111768 DOID:0111768 X-linked properdin deficiency Disease_Ontology DOID:0111769 DOID:0111769 46,XY sex reversal 6 Disease_Ontology DOID:0111770 DOID:0111770 46,XY sex reversal 9 Disease_Ontology DOID:0111771 DOID:0111771 46,XY sex reversal 4 Disease_Ontology DOID:0111772 DOID:0111772 46,XY sex reversal 3 Disease_Ontology DOID:0111773 DOID:0111773 46,XY sex reversal 8 Disease_Ontology DOID:0111774 DOID:0111774 46,XY sex reversal 7 Disease_Ontology DOID:0111775 DOID:0111775 46,XY sex reversal 10 Disease_Ontology DOID:0111776 DOID:0111776 46,XY sex reversal 5 Disease_Ontology DOID:0111777 DOID:0111777 46,XY sex reversal 2 Disease_Ontology DOID:0111778 DOID:0111778 46,XY sex reversal 1 Disease_Ontology DOID:0111779 DOID:0111779 X-linked panhypopituitarism Disease_Ontology DOID:0111780 DOID:0111780 TARP syndrome Disease_Ontology DOID:0111781 DOID:0111781 Waisman syndrome Disease_Ontology DOID:0111782 DOID:0111782 otopalatodigital syndrome spectrum disorder Disease_Ontology DOID:0111783 DOID:0111783 otopalatodigital syndrome type 1 Disease_Ontology DOID:0111784 DOID:0111784 otopalatodigital syndrome type 2 Disease_Ontology DOID:0111785 DOID:0111785 frontometaphyseal dysplasia Disease_Ontology DOID:0111786 DOID:0111786 frontometaphyseal dysplasia 1 Disease_Ontology DOID:0111787 DOID:0111787 frontometaphyseal dysplasia 2 Disease_Ontology DOID:0111788 DOID:0111788 Melnick-Needles syndrome Disease_Ontology DOID:0111789 DOID:0111789 Frank-Ter Haar syndrome Disease_Ontology DOID:0111790 DOID:0111790 congenital nystagmus 1 Disease_Ontology DOID:0111791 DOID:0111791 congenital nystagmus 7 Disease_Ontology DOID:0111792 DOID:0111792 congenital nystagmus 2 Disease_Ontology DOID:0111793 DOID:0111793 congenital nystagmus 3 Disease_Ontology DOID:0111795 DOID:0111795 congenital nystagmus 6 Disease_Ontology DOID:0111796 DOID:0111796 congenital nystagmus 5 Disease_Ontology DOID:0111797 DOID:0111797 autosomal recessive congenital nystagmus Disease_Ontology DOID:0111798 DOID:0111798 X-linked nephrolithiasis type I Disease_Ontology DOID:0111799 DOID:0111799 syndromic microphthalmia 1 Disease_Ontology DOID:0111800 DOID:0111800 syndromic microphthalmia 12 Disease_Ontology DOID:0111801 DOID:0111801 syndromic microphthalmia 3 Disease_Ontology DOID:0111802 DOID:0111802 syndromic microphthalmia 14 Disease_Ontology DOID:0111803 DOID:0111803 syndromic microphthalmia 8 Disease_Ontology DOID:0111804 DOID:0111804 syndromic microphthalmia 11 Disease_Ontology DOID:0111805 DOID:0111805 syndromic microphthalmia 6 Disease_Ontology DOID:0111806 DOID:0111806 syndromic microphthalmia 5 Disease_Ontology DOID:0111807 DOID:0111807 syndromic microphthalmia 9 Disease_Ontology DOID:0111808 DOID:0111808 linear skin defects with multiple congenital anomalies 1 Disease_Ontology DOID:0111809 DOID:0111809 syndromic microphthalmia 2 Disease_Ontology DOID:0111811 DOID:0111811 syndromic microphthalmia 13 Disease_Ontology DOID:0111812 DOID:0111812 syndromic microphthalmia 10 Disease_Ontology DOID:0111813 DOID:0111813 syndactyly type 8 Disease_Ontology DOID:0111814 DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type Disease_Ontology DOID:0111815 DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis Disease_Ontology DOID:0111816 DOID:0111816 syndactyly type 1 Disease_Ontology DOID:0111817 DOID:0111817 syndactyly type 3 Disease_Ontology DOID:0111818 DOID:0111818 syndactyly type 4 Disease_Ontology DOID:0111819 DOID:0111819 syndactyly type 5 Disease_Ontology DOID:0111820 DOID:0111820 zygodactyly 1 Disease_Ontology DOID:0111821 DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 Disease_Ontology DOID:0111822 DOID:0111822 CHILD syndrome Disease_Ontology DOID:0111823 DOID:0111823 autosomal hemophilia A Disease_Ontology DOID:0111824 DOID:0111824 Aarskog syndrome Disease_Ontology DOID:0111825 DOID:0111825 autosomal dominant Aarskog syndrome Disease_Ontology DOID:0111826 DOID:0111826 Abruzzo-Erickson syndrome Disease_Ontology DOID:0111827 DOID:0111827 X-linked spinal muscular atrophy 2 Disease_Ontology DOID:0111828 DOID:0111828 X-linked cerebellar ataxia Disease_Ontology DOID:0111829 DOID:0111829 X-linked spinocerebellar ataxia 1 Disease_Ontology DOID:0111830 DOID:0111830 X-linked spinocerebellar ataxia 2 Disease_Ontology DOID:0111831 DOID:0111831 X-linked spinocerebellar ataxia 3 Disease_Ontology DOID:0111832 DOID:0111832 X-linked spinocerebellar ataxia 4 Disease_Ontology DOID:0111833 DOID:0111833 X-linked spinocerebellar ataxia 5 Disease_Ontology DOID:0111834 DOID:0111834 X-linked reticulate pigmentary disorder Disease_Ontology DOID:0111835 DOID:0111835 congenital nongoitrous hypothyroidism 9 Disease_Ontology DOID:0111836 DOID:0111836 congenital nongoitrous hypothyroidism 7 Disease_Ontology DOID:0111837 DOID:0111837 congenital nongoitrous hypothyroidism 8 Disease_Ontology DOID:0111838 DOID:0111838 Basilicata-Akhtar syndrome Disease_Ontology DOID:0111839 DOID:0111839 congenital disorder of glycosylation Icc Disease_Ontology DOID:0111840 DOID:0111840 Van Esch-O'Driscoll syndrome Disease_Ontology DOID:0111841 DOID:0111841 Shukla-Vernon syndrome Disease_Ontology DOID:0111842 DOID:0111842 Keipert syndrome Disease_Ontology DOID:0111843 DOID:0111843 Paganini-Miozzo syndrome Disease_Ontology DOID:0111844 DOID:0111844 X-linked intellectual developmental disorder 108 Disease_Ontology DOID:0111845 DOID:0111845 Mullegama-Klein-Martinez syndrome Disease_Ontology DOID:0111846 DOID:0111846 X-linked congenital hemolytic anemia Disease_Ontology DOID:0111847 DOID:0111847 osteogenesis imperfecta type 19 Disease_Ontology DOID:0111848 DOID:0111848 osteogenesis imperfecta type 18 Disease_Ontology DOID:0111849 DOID:0111849 osteogenesis imperfecta type 20 Disease_Ontology DOID:0111850 DOID:0111850 primary ciliary dyskinesia 36 Disease_Ontology DOID:0111851 DOID:0111851 primary ciliary dyskinesia 44 Disease_Ontology DOID:0111852 DOID:0111852 primary ciliary dyskinesia 38 Disease_Ontology DOID:0111853 DOID:0111853 primary ciliary dyskinesia 40 Disease_Ontology DOID:0111854 DOID:0111854 primary ciliary dyskinesia 39 Disease_Ontology DOID:0111855 DOID:0111855 primary ciliary dyskinesia 42 Disease_Ontology DOID:0111856 DOID:0111856 primary ciliary dyskinesia 43 Disease_Ontology DOID:0111857 DOID:0111857 primary ciliary dyskinesia 45 Disease_Ontology DOID:0111858 DOID:0111858 primary ciliary dyskinesia 41 Disease_Ontology DOID:0111859 DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Disease_Ontology DOID:0111860 DOID:0111860 AMME complex Disease_Ontology DOID:0111861 DOID:0111861 Meester-Loeys syndrome Disease_Ontology DOID:0111862 DOID:0111862 congenital bilateral absence of vas deferens Disease_Ontology DOID:0111863 DOID:0111863 X-linked congenital bilateral absence of vas deferens Disease_Ontology DOID:0111864 DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens Disease_Ontology DOID:0111865 DOID:0111865 MEND syndrome Disease_Ontology DOID:0111866 DOID:0111866 trichothiodystrophy Disease_Ontology DOID:0111867 DOID:0111867 nonphotosensitive trichothiodystrophy Disease_Ontology DOID:0111868 DOID:0111868 nonphotosensitive trichothiodystrophy 5 Disease_Ontology DOID:0111869 DOID:0111869 photosensitive trichothiodystrophy 2 Disease_Ontology DOID:0111870 DOID:0111870 nonphotosensitive trichothiodystrophy 7 Disease_Ontology DOID:0111871 DOID:0111871 photosensitive trichothiodystrophy 3 Disease_Ontology DOID:0111872 DOID:0111872 nonphotosensitive trichothiodystrophy 6 Disease_Ontology DOID:0111873 DOID:0111873 photosensitive trichothiodystrophy 1 Disease_Ontology DOID:0111874 DOID:0111874 Sabinas brittle hair syndrome Disease_Ontology DOID:0111875 DOID:0111875 MLS syndrome Disease_Ontology DOID:0111876 DOID:0111876 linear skin defects with multiple congenital anomalies 3 Disease_Ontology DOID:0111877 DOID:0111877 linear skin defects with multiple congenital anomalies 2 Disease_Ontology DOID:0111878 DOID:0111878 Diamond-Blackfan anemia 7 Disease_Ontology DOID:0111879 DOID:0111879 Diamond-Blackfan anemia 6 Disease_Ontology DOID:0111880 DOID:0111880 Diamond-Blackfan anemia 17 Disease_Ontology DOID:0111881 DOID:0111881 Diamond-Blackfan anemia 8 Disease_Ontology DOID:0111882 DOID:0111882 Diamond-Blackfan anemia 12 Disease_Ontology DOID:0111883 DOID:0111883 Diamond-Blackfan anemia 5 Disease_Ontology DOID:0111884 DOID:0111884 Diamond-Blackfan anemia 9 Disease_Ontology DOID:0111885 DOID:0111885 Diamond-Blackfan anemia 2 Disease_Ontology DOID:0111886 DOID:0111886 Diamond-Blackfan anemia 19 Disease_Ontology DOID:0111887 DOID:0111887 Diamond-blackfan anemia 3 Disease_Ontology DOID:0111888 DOID:0111888 Diamond-Blackfan anemia 10 Disease_Ontology DOID:0111889 DOID:0111889 Diamond-Blackfan anemia 13 Disease_Ontology DOID:0111890 DOID:0111890 Diamond-Blackfan anemia 4 Disease_Ontology DOID:0111891 DOID:0111891 Diamond-Blackfan anemia 20 Disease_Ontology DOID:0111892 DOID:0111892 Diamond-Blackfan anemia 11 Disease_Ontology DOID:0111893 DOID:0111893 Diamond-Blackfan anemia 16 Disease_Ontology DOID:0111894 DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Disease_Ontology DOID:0111895 DOID:0111895 Diamond-Blackfan anemia 1 Disease_Ontology DOID:0111896 DOID:0111896 Diamond-Blackfan anemia 18 Disease_Ontology DOID:0111897 DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Disease_Ontology DOID:0111898 DOID:0111898 CK syndrome Disease_Ontology DOID:0111899 DOID:0111899 X-linked thrombophilia due to factor IX defect Disease_Ontology DOID:0111900 DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency Disease_Ontology DOID:0111901 DOID:0111901 heparin cofactor II deficiency Disease_Ontology DOID:0111902 DOID:0111902 thrombophilia due to activated protein C resistance Disease_Ontology DOID:0111903 DOID:0111903 thrombophilia due to HRG deficiency Disease_Ontology DOID:0111904 DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency Disease_Ontology DOID:0111905 DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency Disease_Ontology DOID:0111906 DOID:0111906 thrombophilia due to decreased release of PLAT Disease_Ontology DOID:0111907 DOID:0111907 thrombophilia due to thrombin defect Disease_Ontology DOID:0111908 DOID:0111908 thrombophilia due to thrombomodulin defect Disease_Ontology DOID:0111909 DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency Disease_Ontology DOID:0111910 DOID:0111910 spermatogenic failure Disease_Ontology DOID:0111911 DOID:0111911 spermatogenic failure 34 Disease_Ontology DOID:0111912 DOID:0111912 spermatogenic failure 41 Disease_Ontology DOID:0111913 DOID:0111913 spermatogenic failure 30 Disease_Ontology DOID:0111914 DOID:0111914 spermatogenic failure 35 Disease_Ontology DOID:0111915 DOID:0111915 spermatogenic failure 33 Disease_Ontology DOID:0111916 DOID:0111916 spermatogenic failure 28 Disease_Ontology DOID:0111917 DOID:0111917 spermatogenic failure 43 Disease_Ontology DOID:0111918 DOID:0111918 spermatogenic failure 40 Disease_Ontology DOID:0111919 DOID:0111919 spermatogenic failure 38 Disease_Ontology DOID:0111920 DOID:0111920 spermatogenic failure 25 Disease_Ontology DOID:0111921 DOID:0111921 spermatogenic failure 36 Disease_Ontology DOID:0111922 DOID:0111922 spermatogenic failure 31 Disease_Ontology DOID:0111923 DOID:0111923 spermatogenic failure 42 Disease_Ontology DOID:0111924 DOID:0111924 spermatogenic failure 26 Disease_Ontology DOID:0111925 DOID:0111925 spermatogenic failure 32 Disease_Ontology DOID:0111926 DOID:0111926 spermatogenic failure 39 Disease_Ontology DOID:0111927 DOID:0111927 spermatogenic failure 37 Disease_Ontology DOID:0111928 DOID:0111928 spermatogenic failure 27 Disease_Ontology DOID:0111929 DOID:0111929 spermatogenic failure 24 Disease_Ontology DOID:0111930 DOID:0111930 spermatogenic failure 29 Disease_Ontology DOID:0111931 DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome Disease_Ontology DOID:0111932 DOID:0111932 severe congenital encephalopathy due to MECP2 mutation Disease_Ontology DOID:0111933 DOID:0111933 phosphoglycerate kinase 1 deficiency Disease_Ontology DOID:0111934 DOID:0111934 immunodeficiency 38 Disease_Ontology DOID:0111935 DOID:0111935 immunodeficiency 16 Disease_Ontology DOID:0111936 DOID:0111936 immunodeficiency 14 Disease_Ontology DOID:0111937 DOID:0111937 immunodeficiency 22 Disease_Ontology DOID:0111938 DOID:0111938 immunodeficiency 24 Disease_Ontology DOID:0111939 DOID:0111939 immunodeficiency 37 Disease_Ontology DOID:0111940 DOID:0111940 immunodeficiency 42 Disease_Ontology DOID:0111941 DOID:0111941 immunodeficiency 20 Disease_Ontology DOID:0111942 DOID:0111942 immunodeficiency 25 Disease_Ontology DOID:0111943 DOID:0111943 immunodeficiency 48 Disease_Ontology DOID:0111944 DOID:0111944 immunodeficiency 31B Disease_Ontology DOID:0111945 DOID:0111945 immunodeficiency 31A Disease_Ontology DOID:0111946 DOID:0111946 immunodeficiency 31C Disease_Ontology DOID:0111947 DOID:0111947 immunodeficiency 21 Disease_Ontology DOID:0111948 DOID:0111948 immunodeficiency 46 Disease_Ontology DOID:0111949 DOID:0111949 immunodeficiency 36 Disease_Ontology DOID:0111950 DOID:0111950 immunodeficiency 29 Disease_Ontology DOID:0111951 DOID:0111951 immunodeficiency 40 Disease_Ontology DOID:0111952 DOID:0111952 immunodeficiency 57 Disease_Ontology DOID:0111953 DOID:0111953 immunodeficiency 23 Disease_Ontology DOID:0111954 DOID:0111954 immunodeficiency 60 Disease_Ontology DOID:0111955 DOID:0111955 immunodeficiency 27A Disease_Ontology DOID:0111956 DOID:0111956 immunodeficiency 27B Disease_Ontology DOID:0111957 DOID:0111957 immunodeficiency 11A Disease_Ontology DOID:0111958 DOID:0111958 immunodeficiency 11B Disease_Ontology DOID:0111959 DOID:0111959 immunodeficiency 15B Disease_Ontology DOID:0111960 DOID:0111960 immunodeficiency 15A Disease_Ontology DOID:0111961 DOID:0111961 immunodeficiency 26 Disease_Ontology DOID:0111962 DOID:0111962 combined immunodeficiency Disease_Ontology DOID:0111963 DOID:0111963 dendritic cell deficiency Disease_Ontology DOID:0111964 DOID:0111964 B cell and dendritic cell deficiency Disease_Ontology DOID:0111965 DOID:0111965 T cell, B cell, and NK cell deficiency Disease_Ontology DOID:0111966 DOID:0111966 monocyte, dendritic cell, and NK cell deficiency Disease_Ontology DOID:0111967 DOID:0111967 immunodeficiency 54 Disease_Ontology DOID:0111968 DOID:0111968 immunodeficiency 41 Disease_Ontology DOID:0111969 DOID:0111969 immunodeficiency 39 Disease_Ontology DOID:0111970 DOID:0111970 immunodeficiency 10 Disease_Ontology DOID:0111971 DOID:0111971 immunodeficiency 18 Disease_Ontology DOID:0111972 DOID:0111972 immunodeficiency 19 Disease_Ontology DOID:0111973 DOID:0111973 immunodeficiency 17 Disease_Ontology DOID:0111974 DOID:0111974 immunodeficiency 59 Disease_Ontology DOID:0111975 DOID:0111975 immunodeficiency 44 Disease_Ontology DOID:0111976 DOID:0111976 immunodeficiency 9 Disease_Ontology DOID:0111977 DOID:0111977 immunodeficiency 7 Disease_Ontology DOID:0111978 DOID:0111978 immunodeficiency 65 Disease_Ontology DOID:0111979 DOID:0111979 immunodeficiency 49 Disease_Ontology DOID:0111980 DOID:0111980 immunodeficiency 64 Disease_Ontology DOID:0111981 DOID:0111981 immunodeficiency 43 Disease_Ontology DOID:0111982 DOID:0111982 immunodeficiency 56 Disease_Ontology DOID:0111983 DOID:0111983 immunodeficiency 52 Disease_Ontology DOID:0111984 DOID:0111984 immunodeficiency 58 Disease_Ontology DOID:0111985 DOID:0111985 immunodeficiency 32B Disease_Ontology DOID:0111986 DOID:0111986 immunodeficiency 32A Disease_Ontology DOID:0111987 DOID:0111987 immunodeficiency 13 Disease_Ontology DOID:0111988 DOID:0111988 immunodeficiency 12 Disease_Ontology DOID:0111989 DOID:0111989 immunodeficiency 35 Disease_Ontology DOID:0111990 DOID:0111990 immunodeficiency 30 Disease_Ontology DOID:0111991 DOID:0111991 immunodeficiency 62 Disease_Ontology DOID:0111992 DOID:0111992 immunodeficiency 53 Disease_Ontology DOID:0111993 DOID:0111993 immunodeficiency 55 Disease_Ontology DOID:0111994 DOID:0111994 immunodeficiency 45 Disease_Ontology DOID:0111995 DOID:0111995 immunodeficiency 28 Disease_Ontology DOID:0111996 DOID:0111996 immunodeficiency 51 Disease_Ontology DOID:0111997 DOID:0111997 immunodeficiency 63 Disease_Ontology DOID:0111998 DOID:0111998 immunodeficiency 66 Disease_Ontology DOID:0111999 DOID:0111999 immunodeficiency 61 Disease_Ontology DOID:0112000 DOID:0112000 immunodeficiency 34 Disease_Ontology DOID:0112001 DOID:0112001 immunodeficiency 50 Disease_Ontology DOID:0112002 DOID:0112002 immunodeficiency 47 Disease_Ontology DOID:0112003 DOID:0112003 immunodeficiency 33 Disease_Ontology DOID:0112004 DOID:0112004 immunodeficiency 71 Disease_Ontology DOID:0112005 DOID:0112005 immunodeficiency 70 Disease_Ontology DOID:0112006 DOID:0112006 immunodeficiency 69 Disease_Ontology DOID:0112007 DOID:0112007 growth hormone secreting pituitary adenoma 2 Disease_Ontology DOID:0112008 DOID:0112008 pituitary adenoma 5 Disease_Ontology DOID:0112009 DOID:0112009 pituitary adenoma 1 Disease_Ontology DOID:0112010 DOID:0112010 pituitary adenoma 3 Disease_Ontology DOID:0112011 DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques Disease_Ontology DOID:0112012 DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Disease_Ontology DOID:0112013 DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques Disease_Ontology DOID:0112014 DOID:0112014 congenital megabladder Disease_Ontology DOID:0112015 DOID:0112015 immunodeficiency 72 Disease_Ontology DOID:0112016 DOID:0112016 non-syndromic X-linked intellectual disability 2 Disease_Ontology DOID:0112017 DOID:0112017 non-syndromic X-linked intellectual disability 73 Disease_Ontology DOID:0112018 DOID:0112018 non-syndromic X-linked intellectual disability 104 Disease_Ontology DOID:0112019 DOID:0112019 non-syndromic X-linked intellectual disability 19 Disease_Ontology DOID:0112020 DOID:0112020 non-syndromic X-linked intellectual disability 103 Disease_Ontology DOID:0112021 DOID:0112021 non-syndromic X-linked intellectual disability ARX-related Disease_Ontology DOID:0112022 DOID:0112022 non-syndromic X-linked intellectual disability 21 Disease_Ontology DOID:0112023 DOID:0112023 non-syndromic X-linked intellectual disability 20 Disease_Ontology DOID:0112024 DOID:0112024 non-syndromic X-linked intellectual disability 58 Disease_Ontology DOID:0112025 DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 Disease_Ontology DOID:0112026 DOID:0112026 non-syndromic X-linked intellectual disability 99 Disease_Ontology DOID:0112027 DOID:0112027 non-syndromic X-linked intellectual disability 14 Disease_Ontology DOID:0112028 DOID:0112028 non-syndromic X-linked intellectual disability 45 Disease_Ontology DOID:0112029 DOID:0112029 non-syndromic X-linked intellectual disability 50 Disease_Ontology DOID:0112030 DOID:0112030 non-syndromic X-linked intellectual disability 84 Disease_Ontology DOID:0112031 DOID:0112031 non-syndromic X-linked intellectual disability 89 Disease_Ontology DOID:0112032 DOID:0112032 non-syndromic X-linked intellectual disability 92 Disease_Ontology DOID:0112033 DOID:0112033 non-syndromic X-linked intellectual disability 81 Disease_Ontology DOID:0112034 DOID:0112034 non-syndromic X-linked intellectual disability 9 Disease_Ontology DOID:0112035 DOID:0112035 non-syndromic X-linked intellectual disability 96 Disease_Ontology DOID:0112036 DOID:0112036 non-syndromic X-linked intellectual disability 105 Disease_Ontology DOID:0112037 DOID:0112037 chromosome Xp11.22 duplication syndrome Disease_Ontology DOID:0112038 DOID:0112038 non-syndromic X-linked intellectual disability 1 Disease_Ontology DOID:0112039 DOID:0112039 non-syndromic X-linked intellectual disability 77 Disease_Ontology DOID:0112040 DOID:0112040 non-syndromic X-linked intellectual disability 100 Disease_Ontology DOID:0112041 DOID:0112041 non-syndromic X-linked intellectual disability 90 Disease_Ontology DOID:0112042 DOID:0112042 Tonne-Kalscheuer syndrome Disease_Ontology DOID:0112043 DOID:0112043 non-syndromic X-linked intellectual disability 91 Disease_Ontology DOID:0112044 DOID:0112044 non-syndromic X-linked intellectual disability 98 Disease_Ontology DOID:0112045 DOID:0112045 non-syndromic X-linked intellectual disability 93 Disease_Ontology DOID:0112046 DOID:0112046 non-syndromic X-linked intellectual disability 97 Disease_Ontology DOID:0112047 DOID:0112047 non-syndromic X-linked intellectual disability 53 Disease_Ontology DOID:0112048 DOID:0112048 non-syndromic X-linked intellectual disability 101 Disease_Ontology DOID:0112049 DOID:0112049 non-syndromic X-linked intellectual disability 23 Disease_Ontology DOID:0112050 DOID:0112050 non-syndromic X-linked intellectual disability 63 Disease_Ontology DOID:0112051 DOID:0112051 non-syndromic X-linked intellectual disability 30 Disease_Ontology DOID:0112052 DOID:0112052 non-syndromic X-linked intellectual disability 82 Disease_Ontology DOID:0112053 DOID:0112053 non-syndromic X-linked intellectual disability 88 Disease_Ontology DOID:0112054 DOID:0112054 non-syndromic X-linked intellectual disability 107 Disease_Ontology DOID:0112055 DOID:0112055 non-syndromic X-linked intellectual disability 46 Disease_Ontology DOID:0112056 DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome Disease_Ontology DOID:0112057 DOID:0112057 non-syndromic X-linked intellectual disability 42 Disease_Ontology DOID:0112058 DOID:0112058 non-syndromic X-linked intellectual disability 41 Disease_Ontology DOID:0112059 DOID:0112059 non-syndromic X-linked intellectual disability 72 Disease_Ontology DOID:0112060 DOID:0112060 Raynaud-Claes syndrome Disease_Ontology DOID:0112061 DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia Disease_Ontology DOID:0112062 DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Disease_Ontology DOID:0112063 DOID:0112063 X-Linked immunodeficiency 74 Disease_Ontology DOID:0112064 DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis Disease_Ontology DOID:0112065 DOID:0112065 nuclear type mitochondrial complex I deficiency Disease_Ontology DOID:0112066 DOID:0112066 nuclear type mitochondrial complex I deficiency 6 Disease_Ontology DOID:0112067 DOID:0112067 nuclear type mitochondrial complex I deficiency 25 Disease_Ontology DOID:0112068 DOID:0112068 nuclear type mitochondrial complex I deficiency 5 Disease_Ontology DOID:0112069 DOID:0112069 nuclear type mitochondrial complex I deficiency 22 Disease_Ontology DOID:0112070 DOID:0112070 nuclear type mitochondrial complex I deficiency 18 Disease_Ontology DOID:0112071 DOID:0112071 nuclear type mitochondrial complex I deficiency 31 Disease_Ontology DOID:0112072 DOID:0112072 nuclear type mitochondrial complex I deficiency 20 Disease_Ontology DOID:0112073 DOID:0112073 nuclear type mitochondrial complex I deficiency 9 Disease_Ontology DOID:0112074 DOID:0112074 nuclear type mitochondrial complex I deficiency 1 Disease_Ontology DOID:0112075 DOID:0112075 nuclear type mitochondrial complex I deficiency 10 Disease_Ontology DOID:0112076 DOID:0112076 nuclear type mitochondrial complex I deficiency 13 Disease_Ontology DOID:0112077 DOID:0112077 nuclear type mitochondrial complex I deficiency 15 Disease_Ontology DOID:0112078 DOID:0112078 nuclear type mitochondrial complex I deficiency 17 Disease_Ontology DOID:0112079 DOID:0112079 nuclear type mitochondrial complex I deficiency 24 Disease_Ontology DOID:0112080 DOID:0112080 nuclear type mitochondrial complex I deficiency 32 Disease_Ontology DOID:0112081 DOID:0112081 nuclear type mitochondrial complex I deficiency 8 Disease_Ontology DOID:0112082 DOID:0112082 nuclear type mitochondrial complex I deficiency 4 Disease_Ontology DOID:0112083 DOID:0112083 nuclear type mitochondrial complex I deficiency 2 Disease_Ontology DOID:0112084 DOID:0112084 nuclear type mitochondrial complex I deficiency 29 Disease_Ontology DOID:0112085 DOID:0112085 nuclear type mitochondrial complex I deficiency 19 Disease_Ontology DOID:0112086 DOID:0112086 nuclear type mitochondrial complex I deficiency 26 Disease_Ontology DOID:0112087 DOID:0112087 nuclear type mitochondrial complex I deficiency 23 Disease_Ontology DOID:0112088 DOID:0112088 nuclear type mitochondrial complex I deficiency 21 Disease_Ontology DOID:0112089 DOID:0112089 nuclear type mitochondrial complex I deficiency 11 Disease_Ontology DOID:0112090 DOID:0112090 nuclear type mitochondrial complex I deficiency 27 Disease_Ontology DOID:0112091 DOID:0112091 nuclear type mitochondrial complex I deficiency 34 Disease_Ontology DOID:0112092 DOID:0112092 nuclear type mitochondrial complex I deficiency 7 Disease_Ontology DOID:0112093 DOID:0112093 nuclear type mitochondrial complex I deficiency 3 Disease_Ontology DOID:0112094 DOID:0112094 nuclear type mitochondrial complex I deficiency 14 Disease_Ontology DOID:0112095 DOID:0112095 nuclear type mitochondrial complex I deficiency 28 Disease_Ontology DOID:0112096 DOID:0112096 nuclear type mitochondrial complex I deficiency 16 Disease_Ontology DOID:0112097 DOID:0112097 nuclear type mitochondrial complex I deficiency 33 Disease_Ontology DOID:0112098 DOID:0112098 nuclear type mitochondrial complex I deficiency 30 Disease_Ontology DOID:0112099 DOID:0112099 nuclear type mitochondrial complex I deficiency 12 Disease_Ontology DOID:0112100 DOID:0112100 mitochondrial type mitochondrial complex I deficiency Disease_Ontology DOID:0112101 DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 Disease_Ontology DOID:0112102 DOID:0112102 Sotos syndrome 2 Disease_Ontology DOID:0112103 DOID:0112103 Sotos syndrome 1 Disease_Ontology DOID:0112104 DOID:0112104 Sotos syndrome 3 Disease_Ontology DOID:0112105 DOID:0112105 X-linked parkinsonism-spasticity syndrome Disease_Ontology DOID:0112106 DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia Disease_Ontology DOID:0112107 DOID:0112107 McLeod syndrome Disease_Ontology DOID:0112108 DOID:0112108 myofibrillar myopathy 10 Disease_Ontology DOID:0112109 DOID:0112109 spermatogenic failure 44 Disease_Ontology DOID:0112110 DOID:0112110 combined oxidative phosphorylation deficiency 49 Disease_Ontology DOID:0112111 DOID:0112111 combined oxidative phosphorylation deficiency 50 Disease_Ontology DOID:0112112 DOID:0112112 combined oxidative phosphorylation deficiency 48 Disease_Ontology DOID:0112113 DOID:0112113 combined oxidative phosphorylation deficiency 45 Disease_Ontology DOID:0112114 DOID:0112114 combined oxidative phosphorylation deficiency 47 Disease_Ontology DOID:0112115 DOID:0112115 combined oxidative phosphorylation deficiency 46 Disease_Ontology DOID:0112116 DOID:0112116 combined oxidative phosphorylation deficiency 43 Disease_Ontology DOID:0112117 DOID:0112117 combined oxidative phosphorylation deficiency 40 Disease_Ontology DOID:0112118 DOID:0112118 combined oxidative phosphorylation deficiency 42 Disease_Ontology DOID:0112119 DOID:0112119 combined oxidative phosphorylation deficiency 41 Disease_Ontology DOID:0112120 DOID:0112120 SHOX-related short stature Disease_Ontology DOID:0112121 DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis Disease_Ontology DOID:0112122 DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders Disease_Ontology DOID:0112123 DOID:0112123 deafness, dystonia, and cerebral hypomyelination Disease_Ontology DOID:0112124 DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections Disease_Ontology DOID:0112125 DOID:0112125 alpha-thalassemia myelodysplasia syndrome Disease_Ontology DOID:0112126 DOID:0112126 Stocco Dos Santos type X-linked intellectual disability Disease_Ontology DOID:0112127 DOID:0112127 HRPT-related hyperuricemia Disease_Ontology DOID:0112128 DOID:0112128 X-linked severe congenital neutropenia Disease_Ontology DOID:0112129 DOID:0112129 severe congenital neutropenia 7 Disease_Ontology DOID:0112130 DOID:0112130 autosomal dominant severe congenital neutropenia Disease_Ontology DOID:0112131 DOID:0112131 severe congenital neutropenia 2 Disease_Ontology DOID:0112132 DOID:0112132 severe congenital neutropenia 5 Disease_Ontology DOID:0112133 DOID:0112133 severe congenital neutropenia 3 Disease_Ontology DOID:0112134 DOID:0112134 severe congenital neutropenia 6 Disease_Ontology DOID:0112135 DOID:0112135 severe congenital neutropenia 8 Disease_Ontology DOID:0112136 DOID:0112136 severe congenital neutropenia 4 Disease_Ontology DOID:0112137 DOID:0112137 combined oxidative phosphorylation deficiency 51 Disease_Ontology DOID:0112138 DOID:0112138 primary coenzyme Q10 deficiency 9 Disease_Ontology DOID:0112139 DOID:0112139 nuclear type mitochondrial complex I deficiency 35 Disease_Ontology DOID:0112140 DOID:0112140 retinitis pigmentosa 83 Disease_Ontology DOID:0112141 DOID:0112141 retinitis pigmentosa 84 Disease_Ontology DOID:0112142 DOID:0112142 retinitis pigmentosa 85 Disease_Ontology DOID:0112143 DOID:0112143 retinitis pigmentosa 86 Disease_Ontology DOID:0112144 DOID:0112144 retinitis pigmentosa 87 Disease_Ontology DOID:0112145 DOID:0112145 retinitis pigmentosa 88 Disease_Ontology DOID:0112146 DOID:0112146 retinitis pigmentosa 89 Disease_Ontology DOID:0112147 DOID:0112147 retinitis pigmentosa 90 Disease_Ontology DOID:0112148 DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome Disease_Ontology DOID:0112149 DOID:0112149 terminal osseous dysplasia Disease_Ontology DOID:0112150 DOID:0112150 X-linked spondyloepimetaphyseal dysplasia Disease_Ontology DOID:0112151 DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome Disease_Ontology DOID:0112152 DOID:0112152 CHIME syndrome Disease_Ontology DOID:0112153 DOID:0112153 hypomyelinating leukodystrophy 20 Disease_Ontology DOID:0112154 DOID:0112154 inflammatory bowel disease 30 Disease_Ontology DOID:0112155 DOID:0112155 inflammatory bowel disease 29 Disease_Ontology DOID:0112156 DOID:0112156 X-linked dyserythropoietic anemia Disease_Ontology DOID:0112157 DOID:0112157 X-linked atrophic macular degeneration Disease_Ontology DOID:0112158 DOID:0112158 De Sanctis-Cacchione syndrome Disease_Ontology DOID:0112159 DOID:0112159 autosomal dominant nonsyndromic deafness 78 Disease_Ontology DOID:0112160 DOID:0112160 autosomal dominant nonsyndromic deafness 79 Disease_Ontology DOID:0112161 DOID:0112161 Noonan syndrome 13 Disease_Ontology DOID:0112162 DOID:0112162 autosomal recessive nonsyndromic deafness 116 Disease_Ontology DOID:0112163 DOID:0112163 spermatogenic failure 45 Disease_Ontology DOID:0112164 DOID:0112164 spermatogenic failure 46 Disease_Ontology DOID:0112165 DOID:0112165 autosomal dominant nonsyndromic deafness 74 Disease_Ontology DOID:0112166 DOID:0112166 autosomal dominant nonsyndromic deafness 75 Disease_Ontology DOID:0112167 DOID:0112167 autosomal dominant nonsyndromic deafness 76 Disease_Ontology DOID:0112168 DOID:0112168 autosomal dominant nonsyndromic deafness 77 Disease_Ontology DOID:0112169 DOID:0112169 Noonan syndrome 11 Disease_Ontology DOID:0112170 DOID:0112170 Noonan syndrome 12 Disease_Ontology DOID:0112171 DOID:0112171 wrinkly skin syndrome Disease_Ontology DOID:0112172 DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors Disease_Ontology DOID:0112173 DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 Disease_Ontology DOID:0112174 DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 Disease_Ontology DOID:0112175 DOID:0112175 spermatogenic failure 47 Disease_Ontology DOID:0112176 DOID:0112176 spermatogenic failure 48 Disease_Ontology DOID:0112177 DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome Disease_Ontology DOID:0112178 DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Disease_Ontology DOID:0112179 DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 Disease_Ontology DOID:0112180 DOID:0112180 urocanase deficiency Disease_Ontology DOID:0112181 DOID:0112181 Schinzel type phocomelia Disease_Ontology DOID:0112182 DOID:0112182 mismatch repair cancer syndrome Disease_Ontology DOID:0112183 DOID:0112183 familial thyroid dyshormonogenesis Disease_Ontology DOID:0112184 DOID:0112184 thyroid dyshormonogenesis 5 Disease_Ontology DOID:0112185 DOID:0112185 thyroid dyshormonogenesis 1 Disease_Ontology DOID:0112186 DOID:0112186 thyroid dyshormonogenesis 2A Disease_Ontology DOID:0112187 DOID:0112187 thyroid dyshormonogenesis 3 Disease_Ontology DOID:0112188 DOID:0112188 thyroid dyshormonogenesis 4 Disease_Ontology DOID:0112189 DOID:0112189 thyroid dyshormonogenesis 6 Disease_Ontology DOID:0112190 DOID:0112190 distal arthrogryposis type 1C Disease_Ontology DOID:0112191 DOID:0112191 tetraamelia syndrome Disease_Ontology DOID:0112192 DOID:0112192 tetraamelia syndrome 1 Disease_Ontology DOID:0112193 DOID:0112193 tetraamelia syndrome 2 Disease_Ontology DOID:0112194 DOID:0112194 Filippi syndrome Disease_Ontology DOID:0112195 DOID:0112195 spondyloperipheral dysplasia Disease_Ontology DOID:0112196 DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type Disease_Ontology DOID:0112197 DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity Disease_Ontology DOID:0112198 DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 Disease_Ontology DOID:0112199 DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 Disease_Ontology DOID:0112200 DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 Disease_Ontology DOID:0112201 DOID:0112201 osteogenesis imperfecta type 21 Disease_Ontology DOID:0112202 DOID:0112202 developmental and epileptic encephalopathy Disease_Ontology DOID:0112203 DOID:0112203 developmental and epileptic encephalopathy 67 Disease_Ontology DOID:0112204 DOID:0112204 developmental and epileptic encephalopathy 68 Disease_Ontology DOID:0112205 DOID:0112205 developmental and epileptic encephalopathy 69 Disease_Ontology DOID:0112206 DOID:0112206 developmental and epileptic encephalopathy 70 Disease_Ontology DOID:0112207 DOID:0112207 developmental and epileptic encephalopathy 71 Disease_Ontology DOID:0112208 DOID:0112208 developmental and epileptic encephalopathy 72 Disease_Ontology DOID:0112209 DOID:0112209 developmental and epileptic encephalopathy 73 Disease_Ontology DOID:0112210 DOID:0112210 developmental and epileptic encephalopathy 74 Disease_Ontology DOID:0112211 DOID:0112211 developmental and epileptic encephalopathy 75 Disease_Ontology DOID:0112212 DOID:0112212 developmental and epileptic encephalopathy 76 Disease_Ontology DOID:0112213 DOID:0112213 multiple congenital anomalies-hypotonia-seizures syndrome 4 Disease_Ontology DOID:0112214 DOID:0112214 developmental and epileptic encephalopathy 78 Disease_Ontology DOID:0112215 DOID:0112215 developmental and epileptic encephalopathy 79 Disease_Ontology DOID:0112216 DOID:0112216 developmental and epileptic encephalopathy 80 Disease_Ontology DOID:0112217 DOID:0112217 developmental and epileptic encephalopathy 81 Disease_Ontology DOID:0112218 DOID:0112218 developmental and epileptic encephalopathy 83 Disease_Ontology DOID:0112219 DOID:0112219 developmental and epileptic encephalopathy 84 Disease_Ontology DOID:0112220 DOID:0112220 developmental and epileptic encephalopathy 86 Disease_Ontology DOID:0112221 DOID:0112221 developmental and epileptic encephalopathy 87 Disease_Ontology DOID:0112222 DOID:0112222 developmental and epileptic encephalopathy 88 Disease_Ontology DOID:0112223 DOID:0112223 developmental and epileptic encephalopathy 89 Disease_Ontology DOID:0112224 DOID:0112224 chondrodysplasia with joint dislocations gPAPP type Disease_Ontology DOID:0112225 DOID:0112225 BH4-deficient hyperphenylalaninemia B Disease_Ontology DOID:0112226 DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome Disease_Ontology DOID:0112227 DOID:0112227 tubulinopathy Disease_Ontology DOID:0112228 DOID:0112228 lissencephaly 9 with complex brainstem malformation Disease_Ontology DOID:0112229 DOID:0112229 lissencephaly 10 Disease_Ontology DOID:0112230 DOID:0112230 leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus Disease_Ontology DOID:0112231 DOID:0112231 lissencephaly 7 with cerebellar hypoplasia Disease_Ontology DOID:0112232 DOID:0112232 lissencephaly 3 Disease_Ontology DOID:0112233 DOID:0112233 lissencephaly 8 Disease_Ontology DOID:0112234 DOID:0112234 microlissencephaly Disease_Ontology DOID:0112235 DOID:0112235 lissencephaly 4 Disease_Ontology DOID:0112236 DOID:0112236 lissencephaly 6 Disease_Ontology DOID:0112237 DOID:0112237 lissencephaly 1 Disease_Ontology DOID:0112238 DOID:0112238 X-linked lissencephaly 2 Disease_Ontology DOID:0112239 DOID:0112239 X-linked lissencephaly 1 Disease_Ontology DOID:0112240 DOID:0112240 Leber congenital amaurosis with early-onset deafness Disease_Ontology DOID:0112241 DOID:0112241 multiple benign circumferential skin creases on limbs Disease_Ontology DOID:0112242 DOID:0112242 congenital symmetric circumferential skin creases 1 Disease_Ontology DOID:0112243 DOID:0112243 congenital symmetric circumferential skin creases 2 Disease_Ontology DOID:0112244 DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome Disease_Ontology DOID:0112245 DOID:0112245 focal segmental glomerulosclerosis 3 Disease_Ontology DOID:0112246 DOID:0112246 glutaric acidemia type 3 Disease_Ontology DOID:0112247 DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Disease_Ontology DOID:0112248 DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency Disease_Ontology DOID:0112249 DOID:0112249 GAPO syndrome Disease_Ontology DOID:0112250 DOID:0112250 Gaucher's disease type IIIC Disease_Ontology DOID:0112251 DOID:0112251 Ghosal hematodiaphyseal syndrome Disease_Ontology DOID:0112252 DOID:0112252 congenital nonspherocytic hemolytic anemia 6 Disease_Ontology DOID:0112253 DOID:0112253 combined cellular and humoral immune defects with granulomas Disease_Ontology DOID:0112254 DOID:0112254 hepatic venoocclusive disease with immunodeficiency Disease_Ontology DOID:0112255 DOID:0112255 homocystinuria-megaloblastic anemia cblE type Disease_Ontology DOID:0112256 DOID:0112256 homocystinuria-megaloblastic anemia cblG type Disease_Ontology DOID:0112257 DOID:0112257 hydroxykynureninuria Disease_Ontology DOID:0112258 DOID:0112258 N-acetylglutamate synthase deficiency Disease_Ontology DOID:0112259 DOID:0112259 Leydig cell hypoplasia Disease_Ontology DOID:0112260 DOID:0112260 Leydig cell hypoplasia type I Disease_Ontology DOID:0112261 DOID:0112261 Leydig cell hypoplasia type II Disease_Ontology DOID:0112262 DOID:0112262 leucine-sensitive hypoglycemia of infancy Disease_Ontology DOID:0112263 DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy Disease_Ontology DOID:0112264 DOID:0112264 Woodhouse-Sakati syndrome Disease_Ontology DOID:0112265 DOID:0112265 iminoglycinuria Disease_Ontology DOID:0112266 DOID:0112266 nephrotic syndrome type 23 Disease_Ontology DOID:0112267 DOID:0112267 nephrotic syndrome type 21 Disease_Ontology DOID:0112268 DOID:0112268 nephrotic syndrome type 22 Disease_Ontology DOID:0112269 DOID:0112269 primary ovarian insufficiency 18 Disease_Ontology DOID:0112270 DOID:0112270 spermatogenic failure 52 Disease_Ontology DOID:0112271 DOID:0112271 spermatogenic failure 49 Disease_Ontology DOID:0112272 DOID:0112272 spermatogenic failure 50 Disease_Ontology DOID:0112273 DOID:0112273 spermatogenic failure 51 Disease_Ontology DOID:0112274 DOID:0112274 X-linked spermatogenic failure 3 Disease_Ontology DOID:0112275 DOID:0112275 developmental and epileptic encephalopathy 93 Disease_Ontology DOID:0112276 DOID:0112276 neurodevelopmental disorder with involuntary movements Disease_Ontology DOID:0112277 DOID:0112277 immunodeficiency 79 Disease_Ontology DOID:0112278 DOID:0112278 primary ovarian insufficiency 19 Disease_Ontology DOID:0112279 DOID:0112279 spermatogenic failure 53 Disease_Ontology DOID:0112280 DOID:0112280 spondyloepiphyseal dysplasia Disease_Ontology DOID:0112281 DOID:0112281 spondyloepiphyseal dysplasia Stanescu type Disease_Ontology DOID:0112282 DOID:0112282 spondyloepiphyseal dysplasia Kimberley type Disease_Ontology DOID:0112283 DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type Disease_Ontology DOID:0112284 DOID:0112284 spondyloepiphyseal dysplasia tarda Disease_Ontology DOID:0112285 DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda Disease_Ontology DOID:0112286 DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy Disease_Ontology DOID:0112287 DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech Disease_Ontology DOID:0112288 DOID:0112288 spondyloepiphyseal dysplasia Nishimura type Disease_Ontology DOID:0112289 DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies Disease_Ontology DOID:0112290 DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis Disease_Ontology DOID:0112291 DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type Disease_Ontology DOID:0112292 DOID:0112292 spondyloepiphyseal dysplasia tarda with impaired intellectual development Disease_Ontology DOID:0112293 DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda Disease_Ontology DOID:0112294 DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development Disease_Ontology DOID:0112295 DOID:0112295 spondylometaphyseal dysplasia Disease_Ontology DOID:0112296 DOID:0112296 spondylometaphyseal dysplasia Algerian type Disease_Ontology DOID:0112297 DOID:0112297 spondylometaphyseal dysplasia corner fracture type Disease_Ontology DOID:0112298 DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type Disease_Ontology DOID:0112299 DOID:0112299 axial spondylometaphyseal dysplasia Disease_Ontology DOID:0112300 DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy Disease_Ontology DOID:0112301 DOID:0112301 spondylometaphyseal dysplasia type A4 Disease_Ontology DOID:0112302 DOID:0112302 spondylometaphyseal dysplasia East African type Disease_Ontology DOID:0112303 DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy Disease_Ontology DOID:0112304 DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type Disease_Ontology DOID:0112305 DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism Disease_Ontology DOID:0112306 DOID:0112306 Mahvash Disease Disease_Ontology DOID:0112307 DOID:0112307 sarcosinemia Disease_Ontology DOID:0112308 DOID:0112308 central precocious puberty Disease_Ontology DOID:0112309 DOID:0112309 central precocious puberty 2 Disease_Ontology DOID:0112310 DOID:0112310 central precocious puberty 1 Disease_Ontology DOID:0112311 DOID:0112311 male infertility due to acephalic spermatozoa Disease_Ontology DOID:0112312 DOID:0112312 male infertility due to globozoospermia Disease_Ontology DOID:0112313 DOID:0112313 brain small vessel disease Disease_Ontology DOID:0112314 DOID:0112314 autosomal dominant brain small vessel disease 2A Disease_Ontology DOID:0112315 DOID:0112315 brain small vessel disease 3 Disease_Ontology DOID:0112316 DOID:0112316 methemoglobinemia and ambiguous genitalia Disease_Ontology DOID:0112317 DOID:0112317 Schindler disease Disease_Ontology DOID:0112318 DOID:0112318 Schindler disease type 1 Disease_Ontology DOID:0112319 DOID:0112319 Kanzaki disease Disease_Ontology DOID:0112320 DOID:0112320 Schindler disease type 3 Disease_Ontology DOID:0112321 DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome Disease_Ontology DOID:0112322 DOID:0112322 pontocerebellar hypoplasia type 1 Disease_Ontology DOID:0112323 DOID:0112323 pontocerebellar hypoplasia type 1D Disease_Ontology DOID:0112324 DOID:0112324 pontocerebellar hypoplasia type 11 Disease_Ontology DOID:0112325 DOID:0112325 pontocerebellar hypoplasia type 14 Disease_Ontology DOID:0112326 DOID:0112326 pontocerebellar hypoplasia type 15 Disease_Ontology DOID:0112327 DOID:0112327 pontocerebellar hypoplasia type 12 Disease_Ontology DOID:0112328 DOID:0112328 pontocerebellar hypoplasia type 2 Disease_Ontology DOID:0112329 DOID:0112329 pontocerebellar hypoplasia type 2F Disease_Ontology DOID:0112330 DOID:0112330 pontocerebellar hypoplasia type 1E Disease_Ontology DOID:0112331 DOID:0112331 pontocerebellar hypoplasia type 1F Disease_Ontology DOID:0112332 DOID:0112332 pontocerebellar hypoplasia type 13 Disease_Ontology DOID:0112333 DOID:0112333 pontocerebellar hypoplasia type 16 Disease_Ontology DOID:0112334 DOID:0112334 pontocerebellar hypoplasia type 1C Disease_Ontology DOID:0112335 DOID:0112335 spermatogenic failure 54 Disease_Ontology DOID:0112336 DOID:0112336 spermatogenic failure 56 Disease_Ontology DOID:0112337 DOID:0112337 spermatogenic failure 55 Disease_Ontology DOID:0112338 DOID:0112338 spermatogenic failure 57 Disease_Ontology DOID:0112339 DOID:0112339 Tatton-Brown-Rahman syndrome Disease_Ontology DOID:0112340 DOID:0112340 craniotubular dysplasia Ikegawa type Disease_Ontology DOID:0112341 DOID:0112341 hereditary spastic paraplegia 80 Disease_Ontology DOID:0112342 DOID:0112342 hereditary spastic paraplegia 86 Disease_Ontology DOID:0112343 DOID:0112343 hereditary spastic paraplegia 82 Disease_Ontology DOID:0112344 DOID:0112344 hereditary spastic paraplegia 79B Disease_Ontology DOID:0112345 DOID:0112345 hereditary spastic paraplegia 85 Disease_Ontology DOID:0112346 DOID:0112346 hereditary spastic paraplegia 83 Disease_Ontology DOID:0112347 DOID:0112347 hereditary spastic paraplegia 84 Disease_Ontology DOID:0112348 DOID:0112348 hereditary spastic paraplegia 78 Disease_Ontology DOID:0112349 DOID:0112349 hereditary spastic paraplegia 81 Disease_Ontology DOID:0112350 DOID:0112350 spermatogenic failure 61 Disease_Ontology DOID:0112351 DOID:0112351 spermatogenic failure 62 Disease_Ontology DOID:0112352 DOID:0112352 spermatogenic failure 58 Disease_Ontology DOID:0112353 DOID:0112353 spermatogenic failure 64 Disease_Ontology DOID:0112354 DOID:0112354 spermatogenic failure 65 Disease_Ontology DOID:0112355 DOID:0112355 spermatogenic failure 60 Disease_Ontology DOID:0112356 DOID:0112356 spermatogenic failure 63 Disease_Ontology DOID:0112357 DOID:0112357 spermatogenic failure 59 Disease_Ontology DOID:0112358 DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 Disease_Ontology DOID:0112359 DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Disease_Ontology DOID:0112360 DOID:0112360 spondylocostal dysostosis 6 Disease_Ontology DOID:0112361 DOID:0112361 spondylocostal dysostosis 3 Disease_Ontology DOID:0112362 DOID:0112362 spondylocostal dysostosis 2 Disease_Ontology DOID:0112363 DOID:0112363 spondylocostal dysostosis 5 Disease_Ontology DOID:0112364 DOID:0112364 spondylocostal dysostosis 4 Disease_Ontology DOID:0112365 DOID:0112365 spondylocostal dysostosis 1 Disease_Ontology DOID:0112367 DOID:0112367 Coffin-Siris syndrome 8 Disease_Ontology DOID:0112368 DOID:0112368 Coffin-Siris syndrome 5 Disease_Ontology DOID:0112369 DOID:0112369 Coffin-Siris syndrome 7 Disease_Ontology DOID:0112370 DOID:0112370 Coffin-Siris syndrome 12 Disease_Ontology DOID:0112371 DOID:0112371 Coffin-Siris syndrome 10 Disease_Ontology DOID:0112372 DOID:0112372 Coffin-Siris syndrome 11 Disease_Ontology DOID:0112373 DOID:0112373 autosomal dominant auditory neuropathy 3 Disease_Ontology DOID:0112374 DOID:0112374 muscular dystrophy-dystroglycanopathy Disease_Ontology DOID:0112375 DOID:0112375 muscular dystrophy-dystroglycanopathy type B Disease_Ontology DOID:0112376 DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 Disease_Ontology DOID:0112377 DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 Disease_Ontology DOID:0112378 DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 Disease_Ontology DOID:0112379 DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 Disease_Ontology DOID:0112380 DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 Disease_Ontology DOID:0112381 DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 Disease_Ontology DOID:0112382 DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 Disease_Ontology DOID:0112383 DOID:0112383 KINSSHIP syndrome Disease_Ontology DOID:070355 DOID:070355 multisystem proteinopathy Disease_Ontology DOID:100 DOID:100 intestinal infectious disease Disease_Ontology DOID:10003 DOID:10003 sensorineural hearing loss Disease_Ontology DOID:10011 DOID:10011 thyroid lymphoma Disease_Ontology DOID:10016 DOID:10016 multiple endocrine neoplasia type 2B Disease_Ontology DOID:10017 DOID:10017 multiple endocrine neoplasia type 1 Disease_Ontology DOID:1002 DOID:1002 endometritis Disease_Ontology DOID:10020 DOID:10020 ampulla of Vater cancer Disease_Ontology DOID:10021 DOID:10021 duodenum cancer Disease_Ontology DOID:10022 DOID:10022 ampulla of Vater benign neoplasm Disease_Ontology DOID:10024 DOID:10024 migraine with aura Disease_Ontology DOID:10027 DOID:10027 tabes dorsalis Disease_Ontology DOID:1003 DOID:1003 pelvic inflammatory disease Disease_Ontology DOID:10030 DOID:10030 pulmonary interstitial emphysema Disease_Ontology DOID:10031 DOID:10031 compensatory emphysema Disease_Ontology DOID:10032 DOID:10032 hyperlucent lung Disease_Ontology DOID:10033 DOID:10033 cycloplegia Disease_Ontology DOID:10034 DOID:10034 eye accommodation disease Disease_Ontology DOID:10035 DOID:10035 asymptomatic neurosyphilis Disease_Ontology DOID:10039 DOID:10039 late congenital syphilis Disease_Ontology DOID:10040 DOID:10040 malignant eyelid melanoma Disease_Ontology DOID:10041 DOID:10041 dysplastic nevus syndrome Disease_Ontology DOID:10044 DOID:10044 balloon cell malignant melanoma Disease_Ontology DOID:10047 DOID:10047 nodular malignant melanoma Disease_Ontology DOID:1005 DOID:1005 endometrial disease Disease_Ontology DOID:10054 DOID:10054 skin amelanotic melanoma Disease_Ontology DOID:10069 DOID:10069 subglottis benign neoplasm Disease_Ontology DOID:10070 DOID:10070 larynx leiomyoma Disease_Ontology DOID:10071 DOID:10071 larynx squamous papilloma Disease_Ontology DOID:10073 DOID:10073 syphilitic meningitis Disease_Ontology DOID:10074 DOID:10074 hymenolepiasis Disease_Ontology DOID:10075 DOID:10075 diphyllobothriasis Disease_Ontology DOID:10079 DOID:10079 cysticercosis Disease_Ontology DOID:10080 DOID:10080 sparganosis Disease_Ontology DOID:10081 DOID:10081 syphilitic encephalitis Disease_Ontology DOID:10087 DOID:10087 gastric leiomyoma Disease_Ontology DOID:10095 DOID:10095 intracranial abscess Disease_Ontology DOID:10112 DOID:10112 sleeping sickness Disease_Ontology DOID:10113 DOID:10113 trypanosomiasis Disease_Ontology DOID:10122 DOID:10122 hyperpigmentation of eyelid Disease_Ontology DOID:10123 DOID:10123 pigmentation disease Disease_Ontology DOID:10124 DOID:10124 corneal disease Disease_Ontology DOID:10125 DOID:10125 acute hydrops keratoconus Disease_Ontology DOID:10126 DOID:10126 keratoconus Disease_Ontology DOID:10127 DOID:10127 cerebral artery occlusion Disease_Ontology DOID:10128 DOID:10128 venous insufficiency Disease_Ontology DOID:10131 DOID:10131 psychologic vaginismus Disease_Ontology DOID:10132 DOID:10132 psychosexual disorder Disease_Ontology DOID:10138 DOID:10138 xerophthalmia Disease_Ontology DOID:10139 DOID:10139 conjunctival degeneration Disease_Ontology DOID:10140 DOID:10140 dry eye syndrome Disease_Ontology DOID:10146 DOID:10146 thymus lymphoma Disease_Ontology DOID:10149 DOID:10149 long bones of lower limb cancer Disease_Ontology DOID:10151 DOID:10151 malignant neoplasm of short bones of lower limb Disease_Ontology DOID:10152 DOID:10152 Meckel's diverticulum cancer Disease_Ontology DOID:10153 DOID:10153 ileum cancer Disease_Ontology DOID:10154 DOID:10154 small intestine cancer Disease_Ontology DOID:10155 DOID:10155 intestinal cancer Disease_Ontology DOID:10156 DOID:10156 benign ileal neoplasm Disease_Ontology DOID:10159 DOID:10159 osteonecrosis Disease_Ontology DOID:10174 DOID:10174 lacrimal passage granuloma Disease_Ontology DOID:10175 DOID:10175 optic papillitis Disease_Ontology DOID:10176 DOID:10176 neuroretinitis Disease_Ontology DOID:10177 DOID:10177 malignant hypertensive renal disease Disease_Ontology DOID:10183 DOID:10183 endobronchial lipoma Disease_Ontology DOID:10184 DOID:10184 spindle cell lipoma Disease_Ontology DOID:10187 DOID:10187 esophageal lipoma Disease_Ontology DOID:10188 DOID:10188 skin lipoma Disease_Ontology DOID:1019 DOID:1019 osteomyelitis Disease_Ontology DOID:10190 DOID:10190 liver lipoma Disease_Ontology DOID:10192 DOID:10192 pleomorphic lipoma Disease_Ontology DOID:10193 DOID:10193 conventional lipoma Disease_Ontology DOID:10194 DOID:10194 kidney lipoma Disease_Ontology DOID:10195 DOID:10195 pleural lipoma Disease_Ontology DOID:10199 DOID:10199 breast lipoma Disease_Ontology DOID:10200 DOID:10200 chest wall lipoma Disease_Ontology DOID:10201 DOID:10201 gallbladder lipoma Disease_Ontology DOID:10203 DOID:10203 external ear lipoma Disease_Ontology DOID:10205 DOID:10205 axillary lipoma Disease_Ontology DOID:10206 DOID:10206 lipoma of spermatic cord Disease_Ontology DOID:10207 DOID:10207 paratesticular lipoma Disease_Ontology DOID:10208 DOID:10208 chondroid lipoma Disease_Ontology DOID:10209 DOID:10209 extrahepatic bile duct lipoma Disease_Ontology DOID:10211 DOID:10211 cholelithiasis Disease_Ontology DOID:1022 DOID:1022 pinta disease Disease_Ontology DOID:10223 DOID:10223 dermatomyositis Disease_Ontology DOID:1023 DOID:1023 borderline leprosy Disease_Ontology DOID:10230 DOID:10230 aortic atherosclerosis Disease_Ontology DOID:10234 DOID:10234 histoplasmosis pericarditis Disease_Ontology DOID:10235 DOID:10235 Brown's tendon sheath syndrome Disease_Ontology DOID:10236 DOID:10236 exhibitionism Disease_Ontology DOID:1024 DOID:1024 leprosy Disease_Ontology DOID:10241 DOID:10241 thalassemia Disease_Ontology DOID:10242 DOID:10242 ehrlichiosis Disease_Ontology DOID:10247 DOID:10247 pleurisy Disease_Ontology DOID:1025 DOID:1025 tuberculoid leprosy Disease_Ontology DOID:10250 DOID:10250 louping ill Disease_Ontology DOID:10254 DOID:10254 strawberry gallbladder Disease_Ontology DOID:10261 DOID:10261 otorrhea Disease_Ontology DOID:10264 DOID:10264 mumps Disease_Ontology DOID:10266 DOID:10266 subendocardial infarction acute myocardial infarction Disease_Ontology DOID:10272 DOID:10272 left bundle branch hemiblock Disease_Ontology DOID:10273 DOID:10273 heart conduction disease Disease_Ontology DOID:10283 DOID:10283 prostate cancer Disease_Ontology DOID:10286 DOID:10286 prostate carcinoma Disease_Ontology DOID:10287 DOID:10287 prostate squamous cell carcinoma Disease_Ontology DOID:10289 DOID:10289 prostate malignant phyllodes tumor Disease_Ontology DOID:1029 DOID:1029 familial periodic paralysis Disease_Ontology DOID:10290 DOID:10290 prostate lymphoma Disease_Ontology DOID:10293 DOID:10293 monocular esotropia Disease_Ontology DOID:10300 DOID:10300 Raynaud disease Disease_Ontology DOID:10301 DOID:10301 parotitis Disease_Ontology DOID:10302 DOID:10302 parotid disease Disease_Ontology DOID:10303 DOID:10303 sialadenitis Disease_Ontology DOID:10310 DOID:10310 viral meningitis Disease_Ontology DOID:10314 DOID:10314 endocarditis Disease_Ontology DOID:10316 DOID:10316 pneumoconiosis Disease_Ontology DOID:10319 DOID:10319 mixed mineral dust pneumoconiosis Disease_Ontology DOID:10320 DOID:10320 asbestosis Disease_Ontology DOID:10321 DOID:10321 baritosis Disease_Ontology DOID:10322 DOID:10322 berylliosis Disease_Ontology DOID:10323 DOID:10323 byssinosis Disease_Ontology DOID:10324 DOID:10324 anthracosilicosis Disease_Ontology DOID:10325 DOID:10325 silicosis Disease_Ontology DOID:10326 DOID:10326 Caplan's syndrome Disease_Ontology DOID:10327 DOID:10327 anthracosis Disease_Ontology DOID:10328 DOID:10328 siderosis Disease_Ontology DOID:10329 DOID:10329 pulmonary talcosis Disease_Ontology DOID:10330 DOID:10330 slate pneumoconiosis Disease_Ontology DOID:10331 DOID:10331 kaolin pneumoconiosis Disease_Ontology DOID:10337 DOID:10337 glaucomatous atrophy of optic disc Disease_Ontology DOID:10341 DOID:10341 chronic meningitis Disease_Ontology DOID:10348 DOID:10348 blepharophimosis Disease_Ontology DOID:10349 DOID:10349 solitary cyst of breast Disease_Ontology DOID:1035 DOID:1035 aggressive NK-cell leukemia Disease_Ontology DOID:10350 DOID:10350 breast cyst Disease_Ontology DOID:10352 DOID:10352 breast fibroadenosis Disease_Ontology DOID:10353 DOID:10353 fibrosclerosis of breast Disease_Ontology DOID:10354 DOID:10354 breast fibrocystic disease Disease_Ontology DOID:1036 DOID:1036 chronic leukemia Disease_Ontology DOID:10361 DOID:10361 eosinophilic meningitis Disease_Ontology DOID:10366 DOID:10366 epididymis cancer Disease_Ontology DOID:10368 DOID:10368 epididymis adenocarcinoma Disease_Ontology DOID:1037 DOID:1037 lymphoid leukemia Disease_Ontology DOID:10371 DOID:10371 yaws Disease_Ontology DOID:10375 DOID:10375 strabismic amblyopia Disease_Ontology DOID:10376 DOID:10376 amblyopia Disease_Ontology DOID:10377 DOID:10377 refractive amblyopia Disease_Ontology DOID:10378 DOID:10378 deprivation amblyopia Disease_Ontology DOID:10383 DOID:10383 amyotrophic neuralgia Disease_Ontology DOID:1039 DOID:1039 prolymphocytic leukemia Disease_Ontology DOID:10393 DOID:10393 secondary hypertrophic osteoarthropathy Disease_Ontology DOID:10398 DOID:10398 pneumonic plague Disease_Ontology DOID:10399 DOID:10399 seminal vesicle chronic gonorrhea Disease_Ontology DOID:104 DOID:104 bacterial infectious disease Disease_Ontology DOID:1040 DOID:1040 chronic lymphocytic leukemia Disease_Ontology DOID:10400 DOID:10400 gonococcal seminal vesiculitis Disease_Ontology DOID:10423 DOID:10423 acute pericementitis Disease_Ontology DOID:10426 DOID:10426 Klippel-Feil syndrome Disease_Ontology DOID:10428 DOID:10428 stable condition keratoconus Disease_Ontology DOID:10435 DOID:10435 purulent acute otitis media Disease_Ontology DOID:10439 DOID:10439 Mooren's ulcer Disease_Ontology DOID:10440 DOID:10440 mycotic corneal ulcer Disease_Ontology DOID:10441 DOID:10441 marginal corneal ulcer Disease_Ontology DOID:10442 DOID:10442 hypopyon ulcer Disease_Ontology DOID:10443 DOID:10443 hypopyon Disease_Ontology DOID:10444 DOID:10444 ring corneal ulcer Disease_Ontology DOID:10445 DOID:10445 perforated corneal ulcer Disease_Ontology DOID:10456 DOID:10456 tonsillitis Disease_Ontology DOID:10457 DOID:10457 Legionnaires' disease Disease_Ontology DOID:10458 DOID:10458 legionellosis Disease_Ontology DOID:10459 DOID:10459 common cold Disease_Ontology DOID:10460 DOID:10460 nasopharyngitis Disease_Ontology DOID:10461 DOID:10461 dentin caries Disease_Ontology DOID:10471 DOID:10471 patellar tendinitis Disease_Ontology DOID:10480 DOID:10480 diaphragmatic eventration Disease_Ontology DOID:10481 DOID:10481 diaphragm disease Disease_Ontology DOID:10485 DOID:10485 esophageal atresia Disease_Ontology DOID:10486 DOID:10486 intestinal atresia Disease_Ontology DOID:10487 DOID:10487 Hirschsprung's disease Disease_Ontology DOID:10488 DOID:10488 imperforate anus Disease_Ontology DOID:10493 DOID:10493 adrenal cortical hypofunction Disease_Ontology DOID:10499 DOID:10499 orbital granuloma Disease_Ontology DOID:10507 DOID:10507 Dressler's syndrome Disease_Ontology DOID:10516 DOID:10516 malignant otitis externa Disease_Ontology DOID:10518 DOID:10518 beach ear Disease_Ontology DOID:10519 DOID:10519 chronic fungal otitis externa Disease_Ontology DOID:10520 DOID:10520 acute infection of pinna Disease_Ontology DOID:10525 DOID:10525 double pterygium Disease_Ontology DOID:10526 DOID:10526 conjunctival pterygium Disease_Ontology DOID:10533 DOID:10533 viral pneumonia Disease_Ontology DOID:10534 DOID:10534 stomach cancer Disease_Ontology DOID:10536 DOID:10536 malignant gastric granular cell tumor Disease_Ontology DOID:10538 DOID:10538 gastric fundus cancer Disease_Ontology DOID:10540 DOID:10540 gastric lymphoma Disease_Ontology DOID:10541 DOID:10541 microinvasive gastric cancer Disease_Ontology DOID:10544 DOID:10544 pylorus cancer Disease_Ontology DOID:10547 DOID:10547 pyloric antrum cancer Disease_Ontology DOID:10548 DOID:10548 cardia cancer Disease_Ontology DOID:10550 DOID:10550 acute eustachian salpingitis Disease_Ontology DOID:10554 DOID:10554 meningoencephalitis Disease_Ontology DOID:10556 DOID:10556 supine hypotensive syndrome Disease_Ontology DOID:1056 DOID:1056 oculocerebrorenal syndrome Disease_Ontology DOID:10567 DOID:10567 late yaws Disease_Ontology DOID:10568 DOID:10568 early yaws Disease_Ontology DOID:10573 DOID:10573 osteomalacia Disease_Ontology DOID:10575 DOID:10575 calcium metabolism disease Disease_Ontology DOID:10579 DOID:10579 leukodystrophy Disease_Ontology DOID:10581 DOID:10581 metachromatic leukodystrophy Disease_Ontology DOID:10582 DOID:10582 Refsum disease Disease_Ontology DOID:10584 DOID:10584 retinitis pigmentosa Disease_Ontology DOID:10587 DOID:10587 Krabbe disease Disease_Ontology DOID:10588 DOID:10588 adrenoleukodystrophy Disease_Ontology DOID:1059 DOID:1059 intellectual disability Disease_Ontology DOID:10590 DOID:10590 mild pre-eclampsia Disease_Ontology DOID:10591 DOID:10591 pre-eclampsia Disease_Ontology DOID:10593 DOID:10593 idiopathic progressive polyneuropathy Disease_Ontology DOID:10595 DOID:10595 Charcot-Marie-Tooth disease Disease_Ontology DOID:106 DOID:106 pleural tuberculosis Disease_Ontology DOID:1060 DOID:1060 Hartnup disease Disease_Ontology DOID:10600 DOID:10600 chronic tic disorder Disease_Ontology DOID:10603 DOID:10603 glucose intolerance Disease_Ontology DOID:10604 DOID:10604 lactose intolerance Disease_Ontology DOID:10605 DOID:10605 short bowel syndrome Disease_Ontology DOID:10606 DOID:10606 blind loop syndrome Disease_Ontology DOID:10607 DOID:10607 tropical sprue Disease_Ontology DOID:10608 DOID:10608 celiac disease Disease_Ontology DOID:10609 DOID:10609 rickets Disease_Ontology DOID:10610 DOID:10610 pancreatic steatorrhea Disease_Ontology DOID:10611 DOID:10611 protein-losing enteropathy Disease_Ontology DOID:10612 DOID:10612 allergic urticaria Disease_Ontology DOID:10615 DOID:10615 acute gonococcal cervicitis Disease_Ontology DOID:10616 DOID:10616 acute cervicitis Disease_Ontology DOID:10619 DOID:10619 lymph node cancer Disease_Ontology DOID:1062 DOID:1062 Fanconi syndrome Disease_Ontology DOID:10627 DOID:10627 primary optic atrophy Disease_Ontology DOID:10629 DOID:10629 microphthalmia Disease_Ontology DOID:1063 DOID:1063 interstitial nephritis Disease_Ontology DOID:10631 DOID:10631 partial optic atrophy Disease_Ontology DOID:10632 DOID:10632 Wolfram syndrome Disease_Ontology DOID:1064 DOID:1064 cystinosis Disease_Ontology DOID:10646 DOID:10646 schizotypal personality disorder Disease_Ontology DOID:10648 DOID:10648 acute inferoposterior infarction Disease_Ontology DOID:10649 DOID:10649 acute inferolateral myocardial infarction Disease_Ontology DOID:10651 DOID:10651 acute anterolateral myocardial infarction Disease_Ontology DOID:10652 DOID:10652 Alzheimer's disease Disease_Ontology DOID:10655 DOID:10655 lipoma of colon Disease_Ontology DOID:10656 DOID:10656 colon leiomyoma Disease_Ontology DOID:10657 DOID:10657 colonic lymphangioma Disease_Ontology DOID:1066 DOID:1066 residual stage of open angle glaucoma Disease_Ontology DOID:10660 DOID:10660 mediastinum neuroblastoma Disease_Ontology DOID:10661 DOID:10661 mediastinum ganglioneuroblastoma Disease_Ontology DOID:1067 DOID:1067 open-angle glaucoma Disease_Ontology DOID:1068 DOID:1068 juvenile glaucoma Disease_Ontology DOID:10685 DOID:10685 separation anxiety disorder Disease_Ontology DOID:10686 DOID:10686 lactocele Disease_Ontology DOID:10688 DOID:10688 hypertrophy of breast Disease_Ontology DOID:10690 DOID:10690 mastitis Disease_Ontology DOID:10691 DOID:10691 fat necrosis of breast Disease_Ontology DOID:10697 DOID:10697 chronic endophthalmitis Disease_Ontology DOID:10699 DOID:10699 paragonimiasis Disease_Ontology DOID:1070 DOID:1070 primary open angle glaucoma Disease_Ontology DOID:10718 DOID:10718 giardiasis Disease_Ontology DOID:10719 DOID:10719 toxic diffuse goiter Disease_Ontology DOID:1073 DOID:1073 renal hypertension Disease_Ontology DOID:1074 DOID:1074 kidney failure Disease_Ontology DOID:10742 DOID:10742 cerebral lipidosis Disease_Ontology DOID:10744 DOID:10744 broad ligament malignant neoplasm Disease_Ontology DOID:10754 DOID:10754 otitis media Disease_Ontology DOID:10755 DOID:10755 petrositis Disease_Ontology DOID:1076 DOID:1076 chronic pyelonephritis Disease_Ontology DOID:10762 DOID:10762 portal hypertension Disease_Ontology DOID:10763 DOID:10763 hypertension Disease_Ontology DOID:10772 DOID:10772 thrombotic thrombocytopenic purpura Disease_Ontology DOID:10773 DOID:10773 bubonic plague Disease_Ontology DOID:10778 DOID:10778 fiedler's myocarditis Disease_Ontology DOID:10779 DOID:10779 septic myocarditis Disease_Ontology DOID:10780 DOID:10780 primary polycythemia Disease_Ontology DOID:10782 DOID:10782 mesenteric lymphadenitis Disease_Ontology DOID:10783 DOID:10783 methemoglobinemia Disease_Ontology DOID:10784 DOID:10784 Queensland tick typhus Disease_Ontology DOID:10787 DOID:10787 premature menopause Disease_Ontology DOID:1079 DOID:1079 setariasis Disease_Ontology DOID:10790 DOID:10790 chronic frontal sinusitis Disease_Ontology DOID:10791 DOID:10791 frontal sinusitis Disease_Ontology DOID:10792 DOID:10792 chronic maxillary sinusitis Disease_Ontology DOID:10793 DOID:10793 chronic sphenoidal sinusitis Disease_Ontology DOID:10794 DOID:10794 sphenoid sinusitis Disease_Ontology DOID:1080 DOID:1080 filariasis Disease_Ontology DOID:10802 DOID:10802 acute gonococcal epididymo-orchitis Disease_Ontology DOID:10808 DOID:10808 gastric ulcer Disease_Ontology DOID:1081 DOID:1081 mansonelliasis Disease_Ontology DOID:10810 DOID:10810 tibialis tendinitis Disease_Ontology DOID:10811 DOID:10811 nasal cavity cancer Disease_Ontology DOID:10812 DOID:10812 nasal cavity olfactory neuroblastoma Disease_Ontology DOID:10813 DOID:10813 nasal cavity lymphoma Disease_Ontology DOID:10816 DOID:10816 duodenum adenocarcinoma Disease_Ontology DOID:10817 DOID:10817 sexual sadism Disease_Ontology DOID:1082 DOID:1082 dirofilariasis Disease_Ontology DOID:10823 DOID:10823 malignant essential hypertension Disease_Ontology DOID:10824 DOID:10824 malignant hypertension Disease_Ontology DOID:10825 DOID:10825 essential hypertension Disease_Ontology DOID:10834 DOID:10834 voyeurism Disease_Ontology DOID:10835 DOID:10835 chylocele of tunica vaginalis Disease_Ontology DOID:10841 DOID:10841 Eastern equine encephalitis Disease_Ontology DOID:10842 DOID:10842 Murray Valley encephalitis Disease_Ontology DOID:10843 DOID:10843 Western equine encephalitis Disease_Ontology DOID:10844 DOID:10844 Japanese encephalitis Disease_Ontology DOID:10845 DOID:10845 St. Louis encephalitis Disease_Ontology DOID:10846 DOID:10846 angiodysplasia of intestine Disease_Ontology DOID:10849 DOID:10849 sexual masochism Disease_Ontology DOID:1085 DOID:1085 Edwards syndrome Disease_Ontology DOID:10852 DOID:10852 middle ear cholesterol granuloma Disease_Ontology DOID:10854 DOID:10854 salivary gland disease Disease_Ontology DOID:10863 DOID:10863 paralytic squint Disease_Ontology DOID:10864 DOID:10864 partial third-nerve palsy Disease_Ontology DOID:10865 DOID:10865 abducens nerve palsy Disease_Ontology DOID:10866 DOID:10866 total third-nerve palsy Disease_Ontology DOID:10869 DOID:10869 fourth cranial nerve palsy Disease_Ontology DOID:10871 DOID:10871 age related macular degeneration Disease_Ontology DOID:10873 DOID:10873 Kuhnt-Junius degeneration Disease_Ontology DOID:1088 DOID:1088 meningocele Disease_Ontology DOID:10880 DOID:10880 iliac vein thrombophlebitis Disease_Ontology DOID:10881 DOID:10881 hand, foot and mouth disease Disease_Ontology DOID:10882 DOID:10882 epidemic pleurodynia Disease_Ontology DOID:10883 DOID:10883 herpangina Disease_Ontology DOID:10887 DOID:10887 lepromatous leprosy Disease_Ontology DOID:1089 DOID:1089 tethered spinal cord syndrome Disease_Ontology DOID:10892 DOID:10892 hypospadias Disease_Ontology DOID:10907 DOID:10907 microcephaly Disease_Ontology DOID:10908 DOID:10908 hydrocephalus Disease_Ontology DOID:1091 DOID:1091 tooth disease Disease_Ontology DOID:10913 DOID:10913 benign essential hypertension Disease_Ontology DOID:10914 DOID:10914 amnestic disorder Disease_Ontology DOID:10915 DOID:10915 Wernicke-Korsakoff syndrome Disease_Ontology DOID:10921 DOID:10921 Siberian tick typhus Disease_Ontology DOID:10923 DOID:10923 sickle cell anemia Disease_Ontology DOID:10927 DOID:10927 gastrojejunal ulcer Disease_Ontology DOID:10930 DOID:10930 borderline personality disorder Disease_Ontology DOID:10931 DOID:10931 dependent personality disorder Disease_Ontology DOID:10932 DOID:10932 obsessive-compulsive personality disorder Disease_Ontology DOID:10933 DOID:10933 obsessive-compulsive disorder Disease_Ontology DOID:10934 DOID:10934 multiple personality disorder Disease_Ontology DOID:10935 DOID:10935 dissociative disorder Disease_Ontology DOID:10936 DOID:10936 schizoid personality disorder Disease_Ontology DOID:10937 DOID:10937 impulse control disorder Disease_Ontology DOID:10938 DOID:10938 paranoid personality disorder Disease_Ontology DOID:10939 DOID:10939 antisocial personality disorder Disease_Ontology DOID:1094 DOID:1094 attention deficit hyperactivity disorder Disease_Ontology DOID:10941 DOID:10941 intracranial aneurysm Disease_Ontology DOID:10944 DOID:10944 tongue disease Disease_Ontology DOID:10952 DOID:10952 nephritis Disease_Ontology DOID:10955 DOID:10955 strongyloidiasis Disease_Ontology DOID:10963 DOID:10963 cholesteatoma of attic Disease_Ontology DOID:10964 DOID:10964 cholesteatoma of middle ear Disease_Ontology DOID:10965 DOID:10965 spastic diplegia Disease_Ontology DOID:10966 DOID:10966 lipoid nephrosis Disease_Ontology DOID:10967 DOID:10967 spastic hemiplegia Disease_Ontology DOID:10968 DOID:10968 spastic monoplegia Disease_Ontology DOID:10969 DOID:10969 hemiplegia Disease_Ontology DOID:10970 DOID:10970 spastic quadriplegic cerebral palsy Disease_Ontology DOID:10971 DOID:10971 acute salpingo-oophoritis Disease_Ontology DOID:10972 DOID:10972 salpingo-oophoritis Disease_Ontology DOID:10973 DOID:10973 acute salpingitis Disease_Ontology DOID:10974 DOID:10974 oophoritis Disease_Ontology DOID:10976 DOID:10976 membranous glomerulonephritis Disease_Ontology DOID:1098 DOID:1098 hemolytic disease of the fetus Disease_Ontology DOID:10983 DOID:10983 Alport syndrome Disease_Ontology DOID:10986 DOID:10986 discitis Disease_Ontology DOID:10989 DOID:10989 conjunctival vascular disease Disease_Ontology DOID:1099 DOID:1099 alpha thalassemia Disease_Ontology DOID:10991 DOID:10991 basal ganglia cerebrovascular disease Disease_Ontology DOID:10992 DOID:10992 acute hemorrhagic leukoencephalitis Disease_Ontology DOID:10993 DOID:10993 postinfectious encephalitis Disease_Ontology DOID:10997 DOID:10997 immature cataract Disease_Ontology DOID:110 DOID:110 lens disease Disease_Ontology DOID:1100 DOID:1100 ovarian disease Disease_Ontology DOID:11014 DOID:11014 anorectal stricture Disease_Ontology DOID:11028 DOID:11028 pseudopterygium Disease_Ontology DOID:11029 DOID:11029 pinguecula Disease_Ontology DOID:11030 DOID:11030 corneal edema Disease_Ontology DOID:11031 DOID:11031 bullous keratopathy Disease_Ontology DOID:11032 DOID:11032 secondary corneal edema Disease_Ontology DOID:11033 DOID:11033 idiopathic corneal edema Disease_Ontology DOID:11034 DOID:11034 contact lens corneal edema Disease_Ontology DOID:11036 DOID:11036 chronic rapidly progressive glomerulonephritis Disease_Ontology DOID:11037 DOID:11037 dissociative amnesia Disease_Ontology DOID:11038 DOID:11038 depersonalization disorder Disease_Ontology DOID:11042 DOID:11042 Felty's syndrome Disease_Ontology DOID:11044 DOID:11044 gastroschisis Disease_Ontology DOID:11049 DOID:11049 meconium aspiration syndrome Disease_Ontology DOID:11054 DOID:11054 urinary bladder cancer Disease_Ontology DOID:11055 DOID:11055 pasteurellosis Disease_Ontology DOID:1106 DOID:1106 esophagus lymphoma Disease_Ontology DOID:11060 DOID:11060 placenta praevia Disease_Ontology DOID:1107 DOID:1107 esophageal carcinoma Disease_Ontology DOID:11076 DOID:11076 Brucella suis brucellosis Disease_Ontology DOID:11077 DOID:11077 brucellosis Disease_Ontology DOID:11079 DOID:11079 leech infestation Disease_Ontology DOID:1108 DOID:1108 esophagus melanoma Disease_Ontology DOID:11080 DOID:11080 myiasis Disease_Ontology DOID:11086 DOID:11086 chorioretinal scar Disease_Ontology DOID:11088 DOID:11088 asphyxia neonatorum Disease_Ontology DOID:11100 DOID:11100 Q fever Disease_Ontology DOID:11101 DOID:11101 trench fever Disease_Ontology DOID:11102 DOID:11102 bartonellosis Disease_Ontology DOID:11103 DOID:11103 rickettsialpox Disease_Ontology DOID:11104 DOID:11104 spotted fever Disease_Ontology DOID:11105 DOID:11105 fundus albipunctatus Disease_Ontology DOID:11111 DOID:11111 hydronephrosis Disease_Ontology DOID:11119 DOID:11119 Gilles de la Tourette syndrome Disease_Ontology DOID:11120 DOID:11120 psychologic dyspareunia Disease_Ontology DOID:11121 DOID:11121 pulpitis Disease_Ontology DOID:11123 DOID:11123 IgA vasculitis Disease_Ontology DOID:11125 DOID:11125 qualitative platelet defect Disease_Ontology DOID:11126 DOID:11126 acquired thrombocytopenia Disease_Ontology DOID:11129 DOID:11129 dislocation of ear ossicle Disease_Ontology DOID:11130 DOID:11130 secondary hypertension Disease_Ontology DOID:11132 DOID:11132 prostatic hypertrophy Disease_Ontology DOID:11133 DOID:11133 prostatic cyst Disease_Ontology DOID:11134 DOID:11134 prolapse of lacrimal gland Disease_Ontology DOID:1114 DOID:1114 esophagus sarcoma Disease_Ontology DOID:11148 DOID:11148 hypersecretion glaucoma Disease_Ontology DOID:11149 DOID:11149 aqueous misdirection Disease_Ontology DOID:1115 DOID:1115 sarcoma Disease_Ontology DOID:11151 DOID:11151 cholecystolithiasis Disease_Ontology DOID:11153 DOID:11153 miliaria rubra Disease_Ontology DOID:11155 DOID:11155 hypohidrosis Disease_Ontology DOID:11156 DOID:11156 anhidrosis Disease_Ontology DOID:1116 DOID:1116 pertussis Disease_Ontology DOID:11161 DOID:11161 neonatal respiratory failure Disease_Ontology DOID:11162 DOID:11162 respiratory failure Disease_Ontology DOID:11164 DOID:11164 band keratopathy Disease_Ontology DOID:11165 DOID:11165 common wart Disease_Ontology DOID:11166 DOID:11166 Human papillomavirus infectious disease Disease_Ontology DOID:11168 DOID:11168 anogenital venereal wart Disease_Ontology DOID:11175 DOID:11175 enophthalmos Disease_Ontology DOID:11177 DOID:11177 total internal ophthalmoplegia Disease_Ontology DOID:11180 DOID:11180 non-suppurative otitis media Disease_Ontology DOID:11181 DOID:11181 serous glue ear Disease_Ontology DOID:11184 DOID:11184 acute conjunctivitis Disease_Ontology DOID:11186 DOID:11186 allescheriosis Disease_Ontology DOID:11189 DOID:11189 pulp degeneration Disease_Ontology DOID:11190 DOID:11190 pseudomembranous conjunctivitis Disease_Ontology DOID:11193 DOID:11193 syndactyly Disease_Ontology DOID:11195 DOID:11195 acute laryngopharyngitis Disease_Ontology DOID:11197 DOID:11197 serous conjunctivitis except viral Disease_Ontology DOID:11198 DOID:11198 DiGeorge syndrome Disease_Ontology DOID:11199 DOID:11199 hypoparathyroidism Disease_Ontology DOID:112 DOID:112 esophageal varix Disease_Ontology DOID:11200 DOID:11200 T cell deficiency Disease_Ontology DOID:11201 DOID:11201 parathyroid gland disease Disease_Ontology DOID:11202 DOID:11202 primary hyperparathyroidism Disease_Ontology DOID:11203 DOID:11203 Angelucci's syndrome Disease_Ontology DOID:11204 DOID:11204 allergic conjunctivitis Disease_Ontology DOID:11206 DOID:11206 opioid abuse Disease_Ontology DOID:11211 DOID:11211 buphthalmos Disease_Ontology DOID:11212 DOID:11212 hydrophthalmos Disease_Ontology DOID:11213 DOID:11213 acute contagious conjunctivitis Disease_Ontology DOID:11217 DOID:11217 chronic tympanitis Disease_Ontology DOID:11219 DOID:11219 conjunctival folliculosis Disease_Ontology DOID:11223 DOID:11223 small intestine diverticulitis Disease_Ontology DOID:11227 DOID:11227 acute hemorrhagic conjunctivitis Disease_Ontology DOID:1123 DOID:1123 spondyloarthropathy Disease_Ontology DOID:11230 DOID:11230 acute orbital inflammation Disease_Ontology DOID:11231 DOID:11231 orbital periostitis Disease_Ontology DOID:11232 DOID:11232 orbital osteomyelitis Disease_Ontology DOID:11233 DOID:11233 orbital tenonitis Disease_Ontology DOID:11234 DOID:11234 orbital cellulitis Disease_Ontology DOID:11235 DOID:11235 adhesive otitis media Disease_Ontology DOID:11239 DOID:11239 appendix cancer Disease_Ontology DOID:11240 DOID:11240 appendiceal neoplasm Disease_Ontology DOID:11241 DOID:11241 appendix lymphoma Disease_Ontology DOID:11242 DOID:11242 plethora of newborn Disease_Ontology DOID:11243 DOID:11243 anemia of prematurity Disease_Ontology DOID:11244 DOID:11244 neonatal anemia Disease_Ontology DOID:11245 DOID:11245 transient neonatal neutropenia Disease_Ontology DOID:11246 DOID:11246 DIC in newborn Disease_Ontology DOID:11247 DOID:11247 disseminated intravascular coagulation Disease_Ontology DOID:11249 DOID:11249 vitamin K deficiency bleeding Disease_Ontology DOID:11252 DOID:11252 microcytic anemia Disease_Ontology DOID:11254 DOID:11254 Brill-Zinsser disease Disease_Ontology DOID:11256 DOID:11256 typhus Disease_Ontology DOID:11257 DOID:11257 social phobia Disease_Ontology DOID:11258 DOID:11258 cat-scratch disease Disease_Ontology DOID:11260 DOID:11260 rabies Disease_Ontology DOID:11262 DOID:11262 ornithosis Disease_Ontology DOID:11263 DOID:11263 chlamydia Disease_Ontology DOID:11265 DOID:11265 trachoma Disease_Ontology DOID:11266 DOID:11266 Hantavirus hemorrhagic fever with renal syndrome Disease_Ontology DOID:11267 DOID:11267 keratomalacia Disease_Ontology DOID:11269 DOID:11269 chronic apical periodontitis Disease_Ontology DOID:11277 DOID:11277 Plummer's disease Disease_Ontology DOID:11282 DOID:11282 solar retinopathy Disease_Ontology DOID:11283 DOID:11283 peripheral scars of retina Disease_Ontology DOID:11285 DOID:11285 tick paralysis Disease_Ontology DOID:11289 DOID:11289 ventilation pneumonitis Disease_Ontology DOID:1129 DOID:1129 pituitary apoplexy Disease_Ontology DOID:11294 DOID:11294 arteriovenous malformation Disease_Ontology DOID:11295 DOID:11295 retinal microaneurysm Disease_Ontology DOID:11299 DOID:11299 vertebral artery occlusion Disease_Ontology DOID:1130 DOID:1130 pituitary infarct Disease_Ontology DOID:11302 DOID:11302 cercarial dermatitis Disease_Ontology DOID:11312 DOID:11312 Mobitz type II atrioventricular block Disease_Ontology DOID:11315 DOID:11315 African histoplasmosis Disease_Ontology DOID:11316 DOID:11316 histoplasmosis retinitis Disease_Ontology DOID:11320 DOID:11320 Kyasanur forest disease Disease_Ontology DOID:11328 DOID:11328 schizophreniform disorder Disease_Ontology DOID:11329 DOID:11329 ainhum Disease_Ontology DOID:11330 DOID:11330 erysipelas Disease_Ontology DOID:11335 DOID:11335 sarcoidosis Disease_Ontology DOID:11336 DOID:11336 rhinoscleroma Disease_Ontology DOID:11337 DOID:11337 Lemierre's syndrome Disease_Ontology DOID:11338 DOID:11338 tetanus Disease_Ontology DOID:11339 DOID:11339 pneumocystosis Disease_Ontology DOID:1134 DOID:1134 gingival recession Disease_Ontology DOID:11342 DOID:11342 arcus senilis Disease_Ontology DOID:11343 DOID:11343 scleral disease Disease_Ontology DOID:11353 DOID:11353 bladder diverticulum Disease_Ontology DOID:11354 DOID:11354 stone in bladder diverticulum Disease_Ontology DOID:11355 DOID:11355 bladder calculus Disease_Ontology DOID:11360 DOID:11360 phlebotomus fever Disease_Ontology DOID:11364 DOID:11364 lens subluxation Disease_Ontology DOID:11367 DOID:11367 congenital aphakia Disease_Ontology DOID:11371 DOID:11371 functional diarrhea Disease_Ontology DOID:11372 DOID:11372 megacolon Disease_Ontology DOID:11374 DOID:11374 anal spasm Disease_Ontology DOID:11379 DOID:11379 gnathomiasis Disease_Ontology DOID:1138 DOID:1138 spinal meningioma Disease_Ontology DOID:11382 DOID:11382 corneal neovascularization Disease_Ontology DOID:11383 DOID:11383 cryptorchidism Disease_Ontology DOID:11385 DOID:11385 expressive language disorder Disease_Ontology DOID:11387 DOID:11387 epidural abscess Disease_Ontology DOID:11389 DOID:11389 subdural empyema Disease_Ontology DOID:11390 DOID:11390 cerebral arteritis Disease_Ontology DOID:11394 DOID:11394 adult respiratory distress syndrome Disease_Ontology DOID:11396 DOID:11396 pulmonary edema Disease_Ontology DOID:114 DOID:114 heart disease Disease_Ontology DOID:1140 DOID:1140 spinal canal and spinal cord meningioma Disease_Ontology DOID:11400 DOID:11400 pyelonephritis Disease_Ontology DOID:11401 DOID:11401 xanthogranulomatous pyelonephritis Disease_Ontology DOID:11405 DOID:11405 diphtheria Disease_Ontology DOID:11406 DOID:11406 choroiditis Disease_Ontology DOID:1142 DOID:1142 alternating exotropia Disease_Ontology DOID:11424 DOID:11424 fallopian tube endometriosis Disease_Ontology DOID:11427 DOID:11427 endosalpingiosis Disease_Ontology DOID:11428 DOID:11428 endometriosis of intestine Disease_Ontology DOID:11429 DOID:11429 endometriosis of pelvic peritoneum Disease_Ontology DOID:1143 DOID:1143 exotropia Disease_Ontology DOID:11430 DOID:11430 endometriosis in scar of skin Disease_Ontology DOID:11431 DOID:11431 endometriosis of rectovaginal septum and vagina Disease_Ontology DOID:11432 DOID:11432 endometriosis of ovary Disease_Ontology DOID:11446 DOID:11446 sciatic neuropathy Disease_Ontology DOID:11450 DOID:11450 allergic cutaneous vasculitis Disease_Ontology DOID:11452 DOID:11452 perinatal jaundice due to hepatocellular damage Disease_Ontology DOID:11457 DOID:11457 brain compression Disease_Ontology DOID:11459 DOID:11459 pseudotumor cerebri Disease_Ontology DOID:11465 DOID:11465 autonomic nervous system disease Disease_Ontology DOID:11472 DOID:11472 subglottis cancer Disease_Ontology DOID:11476 DOID:11476 osteoporosis Disease_Ontology DOID:1148 DOID:1148 polydactyly Disease_Ontology DOID:11481 DOID:11481 constrictive pericarditis Disease_Ontology DOID:11482 DOID:11482 hemopericardium Disease_Ontology DOID:11486 DOID:11486 Horner's syndrome Disease_Ontology DOID:11488 DOID:11488 idiopathic peripheral autonomic neuropathy Disease_Ontology DOID:11491 DOID:11491 acquired night blindness Disease_Ontology DOID:115 DOID:115 cardiac tamponade Disease_Ontology DOID:11502 DOID:11502 mitral valve insufficiency Disease_Ontology DOID:11503 DOID:11503 diabetic autonomic neuropathy Disease_Ontology DOID:11504 DOID:11504 autonomic neuropathy Disease_Ontology DOID:11506 DOID:11506 suppurative otitis media Disease_Ontology DOID:11507 DOID:11507 rumination disorder Disease_Ontology DOID:11512 DOID:11512 Budd-Chiari syndrome Disease_Ontology DOID:11514 DOID:11514 fissured tongue Disease_Ontology DOID:11516 DOID:11516 hypertensive heart disease Disease_Ontology DOID:11518 DOID:11518 abnormal pupillary function Disease_Ontology DOID:11520 DOID:11520 benign hypertensive renal disease Disease_Ontology DOID:11527 DOID:11527 laryngostenosis Disease_Ontology DOID:11541 DOID:11541 recurrent corneal erosion Disease_Ontology DOID:11543 DOID:11543 corneal abscess Disease_Ontology DOID:11547 DOID:11547 corneal deposit Disease_Ontology DOID:11549 DOID:11549 Adie syndrome Disease_Ontology DOID:11550 DOID:11550 oculomotor nerve paralysis Disease_Ontology DOID:11552 DOID:11552 Bowman's membrane folds or rupture Disease_Ontology DOID:11554 DOID:11554 Chandler syndrome Disease_Ontology DOID:11555 DOID:11555 Fuchs' endothelial dystrophy Disease_Ontology DOID:11557 DOID:11557 acute serous otitis media Disease_Ontology DOID:11558 DOID:11558 acute allergic serous otitis media Disease_Ontology DOID:1156 DOID:1156 chondrocalcinosis Disease_Ontology DOID:11561 DOID:11561 hypertensive retinopathy Disease_Ontology DOID:11563 DOID:11563 retinal vasculitis Disease_Ontology DOID:11569 DOID:11569 neurocirculatory asthenia Disease_Ontology DOID:11572 DOID:11572 Listeria meningitis Disease_Ontology DOID:11573 DOID:11573 listeriosis Disease_Ontology DOID:11574 DOID:11574 streptococcal meningitis Disease_Ontology DOID:11577 DOID:11577 Cauda equina syndrome Disease_Ontology DOID:11581 DOID:11581 phlyctenulosis Disease_Ontology DOID:11589 DOID:11589 familial dysautonomia Disease_Ontology DOID:1159 DOID:1159 functional gastric disease Disease_Ontology DOID:11593 DOID:11593 bladder lateral wall cancer Disease_Ontology DOID:11594 DOID:11594 ring staphyloma Disease_Ontology DOID:11595 DOID:11595 scleral staphyloma Disease_Ontology DOID:11599 DOID:11599 Frey syndrome Disease_Ontology DOID:116 DOID:116 pericardium cancer Disease_Ontology DOID:11603 DOID:11603 infant gynecomastia Disease_Ontology DOID:11608 DOID:11608 fungal meningitis Disease_Ontology DOID:11612 DOID:11612 polycystic ovary syndrome Disease_Ontology DOID:11613 DOID:11613 hyperandrogenism Disease_Ontology DOID:11615 DOID:11615 penile cancer Disease_Ontology DOID:11623 DOID:11623 dental pulp necrosis Disease_Ontology DOID:11624 DOID:11624 penile benign neoplasm Disease_Ontology DOID:11629 DOID:11629 pelvic muscle wasting Disease_Ontology DOID:11633 DOID:11633 thyroid hormone resistance syndrome Disease_Ontology DOID:11634 DOID:11634 myxedema Disease_Ontology DOID:11637 DOID:11637 accommodative spasm Disease_Ontology DOID:11638 DOID:11638 presbyopia Disease_Ontology DOID:11650 DOID:11650 bronchopulmonary dysplasia Disease_Ontology DOID:11653 DOID:11653 conjunctival deposit Disease_Ontology DOID:11656 DOID:11656 cicatricial pemphigoid Disease_Ontology DOID:1166 DOID:1166 palindromic rheumatism Disease_Ontology DOID:11661 DOID:11661 blue color blindness Disease_Ontology DOID:11664 DOID:11664 nephrosclerosis Disease_Ontology DOID:11665 DOID:11665 Patau syndrome Disease_Ontology DOID:11668 DOID:11668 hypopigmentation of eyelid Disease_Ontology DOID:11669 DOID:11669 hypertrichosis of eyelid Disease_Ontology DOID:11671 DOID:11671 hypotrichosis of eyelid Disease_Ontology DOID:11678 DOID:11678 onchocerciasis Disease_Ontology DOID:1168 DOID:1168 familial hyperlipidemia Disease_Ontology DOID:11684 DOID:11684 melanoacanthoma Disease_Ontology DOID:11685 DOID:11685 inflamed seborrheic keratosis Disease_Ontology DOID:11693 DOID:11693 acute apical periodontitis Disease_Ontology DOID:11695 DOID:11695 portal vein thrombosis Disease_Ontology DOID:117 DOID:117 heart cancer Disease_Ontology DOID:11701 DOID:11701 selective IgA deficiency disease Disease_Ontology DOID:11702 DOID:11702 dysgammaglobulinemia Disease_Ontology DOID:1171 DOID:1171 hyperlipoproteinemia type V Disease_Ontology DOID:11712 DOID:11712 lipoatrophic diabetes mellitus Disease_Ontology DOID:11713 DOID:11713 diabetic angiopathy Disease_Ontology DOID:11714 DOID:11714 gestational diabetes Disease_Ontology DOID:11716 DOID:11716 prediabetes syndrome Disease_Ontology DOID:11717 DOID:11717 neonatal diabetes mellitus Disease_Ontology DOID:11718 DOID:11718 antidepressant type abuse Disease_Ontology DOID:11719 DOID:11719 oculopharyngeal muscular dystrophy Disease_Ontology DOID:1172 DOID:1172 hyperlipoproteinemia type IV Disease_Ontology DOID:11720 DOID:11720 distal myopathy Disease_Ontology DOID:11721 DOID:11721 glycogen storage disease VII Disease_Ontology DOID:11722 DOID:11722 myotonic dystrophy type 1 Disease_Ontology DOID:11723 DOID:11723 Duchenne muscular dystrophy Disease_Ontology DOID:11724 DOID:11724 limb-girdle muscular dystrophy Disease_Ontology DOID:11725 DOID:11725 Cornelia de Lange syndrome Disease_Ontology DOID:11726 DOID:11726 Emery-Dreifuss muscular dystrophy Disease_Ontology DOID:11727 DOID:11727 facioscapulohumeral muscular dystrophy Disease_Ontology DOID:11729 DOID:11729 Lyme disease Disease_Ontology DOID:11736 DOID:11736 odontoclasia Disease_Ontology DOID:11746 DOID:11746 parametrium malignant neoplasm Disease_Ontology DOID:11747 DOID:11747 uterine adnexa cancer Disease_Ontology DOID:11748 DOID:11748 round ligament malignant neoplasm Disease_Ontology DOID:11750 DOID:11750 Bordetella parapertussis whooping cough Disease_Ontology DOID:11752 DOID:11752 acute endophthalmitis Disease_Ontology DOID:11754 DOID:11754 siderosis of eye Disease_Ontology DOID:11755 DOID:11755 choledocholithiasis Disease_Ontology DOID:11758 DOID:11758 iron deficiency anemia Disease_Ontology DOID:11759 DOID:11759 hypochromic anemia Disease_Ontology DOID:1176 DOID:1176 bronchial disease Disease_Ontology DOID:11760 DOID:11760 Kohler's disease Disease_Ontology DOID:11766 DOID:11766 blind hypotensive eye Disease_Ontology DOID:11771 DOID:11771 spontaneous ocular nystagmus Disease_Ontology DOID:11772 DOID:11772 leukocoria Disease_Ontology DOID:11776 DOID:11776 absolute glaucoma Disease_Ontology DOID:11781 DOID:11781 regular astigmatism Disease_Ontology DOID:11782 DOID:11782 astigmatism Disease_Ontology DOID:11783 DOID:11783 necrosis of ear ossicle Disease_Ontology DOID:11786 DOID:11786 splenic sequestration Disease_Ontology DOID:11787 DOID:11787 chronic congestive splenomegaly Disease_Ontology DOID:11793 DOID:11793 phthisical cornea Disease_Ontology DOID:11797 DOID:11797 chronic laryngitis Disease_Ontology DOID:118 DOID:118 pericardial effusion Disease_Ontology DOID:11801 DOID:11801 protein-energy malnutrition Disease_Ontology DOID:11809 DOID:11809 bladder neck cancer Disease_Ontology DOID:11811 DOID:11811 urinary bladder posterior wall cancer Disease_Ontology DOID:11812 DOID:11812 bladder sarcoma Disease_Ontology DOID:11813 DOID:11813 bladder trigone cancer Disease_Ontology DOID:11814 DOID:11814 urinary bladder anterior wall cancer Disease_Ontology DOID:11816 DOID:11816 vitreous syneresis Disease_Ontology DOID:11817 DOID:11817 urachus cancer Disease_Ontology DOID:11818 DOID:11818 ureteral orifice cancer Disease_Ontology DOID:11819 DOID:11819 ureter cancer Disease_Ontology DOID:11820 DOID:11820 bladder dome cancer Disease_Ontology DOID:11821 DOID:11821 bladder lymphoma Disease_Ontology DOID:11823 DOID:11823 hepatorenal syndrome Disease_Ontology DOID:11824 DOID:11824 multicentric reticulohistiocytosis Disease_Ontology DOID:11829 DOID:11829 degenerative myopia Disease_Ontology DOID:11830 DOID:11830 myopia Disease_Ontology DOID:11831 DOID:11831 cortical blindness Disease_Ontology DOID:11832 DOID:11832 visual epilepsy Disease_Ontology DOID:11836 DOID:11836 clubfoot Disease_Ontology DOID:11838 DOID:11838 penis sarcoma Disease_Ontology DOID:11839 DOID:11839 glans penis cancer Disease_Ontology DOID:1184 DOID:1184 nephrotic syndrome Disease_Ontology DOID:11840 DOID:11840 coronary artery vasospasm Disease_Ontology DOID:11843 DOID:11843 coronary artery anomaly Disease_Ontology DOID:11847 DOID:11847 coronary thrombosis Disease_Ontology DOID:11850 DOID:11850 transient refractive change Disease_Ontology DOID:11851 DOID:11851 indeterminate leprosy Disease_Ontology DOID:11853 DOID:11853 monocular exotropia Disease_Ontology DOID:11864 DOID:11864 peripheral focal chorioretinitis Disease_Ontology DOID:1187 DOID:1187 tibial neuropathy Disease_Ontology DOID:11870 DOID:11870 Pick's disease Disease_Ontology DOID:11871 DOID:11871 macular keratitis Disease_Ontology DOID:11874 DOID:11874 abnormal threshold of rods Disease_Ontology DOID:11875 DOID:11875 denture stomatitis Disease_Ontology DOID:1188 DOID:1188 mononeuropathy Disease_Ontology DOID:11885 DOID:11885 ureteral benign neoplasm Disease_Ontology DOID:11887 DOID:11887 ureter leiomyoma Disease_Ontology DOID:11888 DOID:11888 schwannoma of ureter Disease_Ontology DOID:11889 DOID:11889 female breast nipple and areola cancer Disease_Ontology DOID:119 DOID:119 vaginal cancer Disease_Ontology DOID:11905 DOID:11905 labium majus cancer Disease_Ontology DOID:11907 DOID:11907 ecthyma Disease_Ontology DOID:11914 DOID:11914 gastroparesis Disease_Ontology DOID:11917 DOID:11917 tinea cruris Disease_Ontology DOID:1192 DOID:1192 peripheral nervous system neoplasm Disease_Ontology DOID:11920 DOID:11920 tracheal cancer Disease_Ontology DOID:11934 DOID:11934 head and neck cancer Disease_Ontology DOID:11949 DOID:11949 Creutzfeldt-Jakob disease Disease_Ontology DOID:1195 DOID:1195 ischemic neuropathy Disease_Ontology DOID:11963 DOID:11963 esophagitis Disease_Ontology DOID:11968 DOID:11968 postmenopausal atrophic vaginitis Disease_Ontology DOID:11971 DOID:11971 synostosis Disease_Ontology DOID:11975 DOID:11975 coloboma of optic nerve Disease_Ontology DOID:11976 DOID:11976 botulism Disease_Ontology DOID:11981 DOID:11981 morbid obesity Disease_Ontology DOID:11983 DOID:11983 Prader-Willi syndrome Disease_Ontology DOID:11984 DOID:11984 hypertrophic cardiomyopathy Disease_Ontology DOID:11988 DOID:11988 conjunctival concretion Disease_Ontology DOID:11990 DOID:11990 ulceroglandular tularemia Disease_Ontology DOID:11991 DOID:11991 osteopoikilosis Disease_Ontology DOID:11994 DOID:11994 atrophy of testis Disease_Ontology DOID:11996 DOID:11996 spermatic cord torsion Disease_Ontology DOID:11997 DOID:11997 spermatocele Disease_Ontology DOID:120 DOID:120 female reproductive organ cancer Disease_Ontology DOID:12001 DOID:12001 tracheal lymphoma Disease_Ontology DOID:12002 DOID:12002 trachea sarcoma Disease_Ontology DOID:12003 DOID:12003 trachea squamous cell carcinoma Disease_Ontology DOID:1201 DOID:1201 trigeminal nerve neoplasm Disease_Ontology DOID:12010 DOID:12010 anterior ischemic optic neuropathy Disease_Ontology DOID:12016 DOID:12016 frontal lobe neoplasm Disease_Ontology DOID:12028 DOID:12028 Conn's syndrome Disease_Ontology DOID:12029 DOID:12029 sympathetic ophthalmia Disease_Ontology DOID:1203 DOID:1203 drug-induced mental disorder Disease_Ontology DOID:12030 DOID:12030 panuveitis Disease_Ontology DOID:12043 DOID:12043 kernicterus due to isoimmunization Disease_Ontology DOID:1205 DOID:1205 allergic disease Disease_Ontology DOID:12053 DOID:12053 cryptococcosis Disease_Ontology DOID:12055 DOID:12055 sarcoid meningitis Disease_Ontology DOID:1206 DOID:1206 Rett syndrome Disease_Ontology DOID:12064 DOID:12064 mediastinum neurofibroma Disease_Ontology DOID:12070 DOID:12070 Dieulafoy lesion Disease_Ontology DOID:12072 DOID:12072 pylorospasm Disease_Ontology DOID:12084 DOID:12084 transient arthropathy Disease_Ontology DOID:12087 DOID:12087 deep corneal vascularisation Disease_Ontology DOID:1209 DOID:1209 nutritional optic neuropathy Disease_Ontology DOID:12096 DOID:12096 sodoku disease Disease_Ontology DOID:12098 DOID:12098 trigeminal neuralgia Disease_Ontology DOID:121 DOID:121 vaginal disease Disease_Ontology DOID:1210 DOID:1210 optic neuritis Disease_Ontology DOID:12105 DOID:12105 inflammatory spondylopathy Disease_Ontology DOID:12108 DOID:12108 bullous retinoschisis Disease_Ontology DOID:12117 DOID:12117 pulmonary alveolar microlithiasis Disease_Ontology DOID:12118 DOID:12118 pulmonary hemosiderosis Disease_Ontology DOID:12119 DOID:12119 hemosiderosis Disease_Ontology DOID:12120 DOID:12120 pulmonary alveolar proteinosis Disease_Ontology DOID:12123 DOID:12123 postinflammatory pulmonary fibrosis Disease_Ontology DOID:12124 DOID:12124 episcleritis periodica fugax Disease_Ontology DOID:12125 DOID:12125 neurotrophic keratoconjunctivitis Disease_Ontology DOID:12128 DOID:12128 pica disease Disease_Ontology DOID:12129 DOID:12129 bulimia nervosa Disease_Ontology DOID:12132 DOID:12132 granulomatosis with polyangiitis Disease_Ontology DOID:12134 DOID:12134 factor VIII deficiency Disease_Ontology DOID:12139 DOID:12139 dysthymic disorder Disease_Ontology DOID:1214 DOID:1214 tympanosclerosis Disease_Ontology DOID:12140 DOID:12140 Chagas disease Disease_Ontology DOID:12143 DOID:12143 neurogenic bladder Disease_Ontology DOID:12144 DOID:12144 low compliance bladder Disease_Ontology DOID:12145 DOID:12145 detrusor sphincter dyssynergia Disease_Ontology DOID:12148 DOID:12148 alveolar echinococcosis Disease_Ontology DOID:12155 DOID:12155 lymphocytic choriomeningitis Disease_Ontology DOID:12156 DOID:12156 arachnoiditis Disease_Ontology DOID:12157 DOID:12157 aseptic meningitis Disease_Ontology DOID:12161 DOID:12161 peripheral retinal degeneration Disease_Ontology DOID:12162 DOID:12162 pseudoretinitis pigmentosa Disease_Ontology DOID:12163 DOID:12163 senile reticular retinal degeneration Disease_Ontology DOID:12164 DOID:12164 Blessig's cysts Disease_Ontology DOID:12165 DOID:12165 retinal lattice degeneration Disease_Ontology DOID:12166 DOID:12166 cobblestone retinal degeneration Disease_Ontology DOID:12167 DOID:12167 secondary vitreoretinal degeneration Disease_Ontology DOID:12168 DOID:12168 ulnar nerve lesion Disease_Ontology DOID:12169 DOID:12169 carpal tunnel syndrome Disease_Ontology DOID:1217 DOID:1217 fascioloidiasis Disease_Ontology DOID:12170 DOID:12170 radial nerve lesion Disease_Ontology DOID:12171 DOID:12171 radial neuropathy Disease_Ontology DOID:12175 DOID:12175 dyshormonogenic goiter Disease_Ontology DOID:12176 DOID:12176 goiter Disease_Ontology DOID:12177 DOID:12177 common variable immunodeficiency Disease_Ontology DOID:12179 DOID:12179 tinea corporis Disease_Ontology DOID:1218 DOID:1218 echinostomiasis Disease_Ontology DOID:12185 DOID:12185 otosclerosis Disease_Ontology DOID:1219 DOID:1219 dicrocoeliasis Disease_Ontology DOID:12190 DOID:12190 descending colon cancer Disease_Ontology DOID:12191 DOID:12191 splenic flexure cancer Disease_Ontology DOID:12192 DOID:12192 sigmoid colon cancer Disease_Ontology DOID:12196 DOID:12196 superficial keratitis Disease_Ontology DOID:12197 DOID:12197 punctate epithelial keratoconjunctivitis Disease_Ontology DOID:12205 DOID:12205 dengue disease Disease_Ontology DOID:12206 DOID:12206 dengue hemorrhagic fever Disease_Ontology DOID:12211 DOID:12211 filarial elephantiasis Disease_Ontology DOID:12215 DOID:12215 oligohydramnios Disease_Ontology DOID:12217 DOID:12217 Lewy body dementia Disease_Ontology DOID:1222 DOID:1222 cartilage disease Disease_Ontology DOID:12225 DOID:12225 Plica syndrome Disease_Ontology DOID:12234 DOID:12234 cascade stomach Disease_Ontology DOID:12236 DOID:12236 primary biliary cholangitis Disease_Ontology DOID:12237 DOID:12237 bile reflux Disease_Ontology DOID:12239 DOID:12239 anal margin squamous cell carcinoma Disease_Ontology DOID:12241 DOID:12241 beta thalassemia Disease_Ontology DOID:12246 DOID:12246 histoplasmosis meningitis Disease_Ontology DOID:12253 DOID:12253 testicular lymphoma Disease_Ontology DOID:12257 DOID:12257 medulloadrenal hyperfunction Disease_Ontology DOID:12259 DOID:12259 hemophilia B Disease_Ontology DOID:12265 DOID:12265 chronic salpingo-oophoritis Disease_Ontology DOID:1227 DOID:1227 neutropenia Disease_Ontology DOID:12270 DOID:12270 coloboma Disease_Ontology DOID:12271 DOID:12271 aniridia Disease_Ontology DOID:12273 DOID:12273 anisometropia Disease_Ontology DOID:12275 DOID:12275 cutaneous diphtheria Disease_Ontology DOID:12276 DOID:12276 malignant tumor of undescended testis Disease_Ontology DOID:12282 DOID:12282 femoral vein thrombophlebitis Disease_Ontology DOID:12286 DOID:12286 testicular leukemia Disease_Ontology DOID:12287 DOID:12287 Crimean-Congo hemorrhagic fever Disease_Ontology DOID:1229 DOID:1229 paranoid schizophrenia Disease_Ontology DOID:12294 DOID:12294 atypical depressive disorder Disease_Ontology DOID:12297 DOID:12297 Vogt-Koyanagi-Harada disease Disease_Ontology DOID:12298 DOID:12298 intrahepatic gall duct cancer Disease_Ontology DOID:12304 DOID:12304 conjunctival pigmentation Disease_Ontology DOID:12305 DOID:12305 Bloch-Sulzberger syndrome Disease_Ontology DOID:12306 DOID:12306 vitiligo Disease_Ontology DOID:12307 DOID:12307 anterior corneal pigmentation Disease_Ontology DOID:12308 DOID:12308 Dubin-Johnson syndrome Disease_Ontology DOID:12309 DOID:12309 urticaria pigmentosa Disease_Ontology DOID:12311 DOID:12311 stromal corneal pigmentation Disease_Ontology DOID:12318 DOID:12318 granular corneal dystrophy Disease_Ontology DOID:12323 DOID:12323 cough variant asthma Disease_Ontology DOID:12325 DOID:12325 kyphoscoliotic heart disease Disease_Ontology DOID:12326 DOID:12326 chronic pulmonary heart disease Disease_Ontology DOID:12328 DOID:12328 marasmus Disease_Ontology DOID:1233 DOID:1233 transvestism Disease_Ontology DOID:12332 DOID:12332 hematocele of tunica vaginalis testis Disease_Ontology DOID:12333 DOID:12333 male genital organ stricture Disease_Ontology DOID:12335 DOID:12335 male genital organ vascular disease Disease_Ontology DOID:12336 DOID:12336 male infertility Disease_Ontology DOID:12337 DOID:12337 varicocele Disease_Ontology DOID:12339 DOID:12339 retroperitoneal lymphoma Disease_Ontology DOID:1234 DOID:1234 gender incongruence Disease_Ontology DOID:12341 DOID:12341 retroperitoneal sarcoma Disease_Ontology DOID:12342 DOID:12342 retroperitoneum carcinoma Disease_Ontology DOID:12347 DOID:12347 osteogenesis imperfecta Disease_Ontology DOID:12349 DOID:12349 primary eye hypotony Disease_Ontology DOID:1235 DOID:1235 fetishism Disease_Ontology DOID:12351 DOID:12351 alcoholic hepatitis Disease_Ontology DOID:12355 DOID:12355 prostatocystitis Disease_Ontology DOID:12357 DOID:12357 viral labyrinthitis Disease_Ontology DOID:12358 DOID:12358 patulous eustachian tube Disease_Ontology DOID:12359 DOID:12359 endocrine exophthalmos Disease_Ontology DOID:12360 DOID:12360 lateral displacement of eye Disease_Ontology DOID:12361 DOID:12361 Graves' disease Disease_Ontology DOID:12362 DOID:12362 thyrotoxic exophthalmos Disease_Ontology DOID:12363 DOID:12363 intermittent proptosis Disease_Ontology DOID:12364 DOID:12364 pulsating exophthalmos Disease_Ontology DOID:12365 DOID:12365 malaria Disease_Ontology DOID:12369 DOID:12369 prolapse of urethra Disease_Ontology DOID:1237 DOID:1237 corneal degeneration Disease_Ontology DOID:12375 DOID:12375 bronchopneumonia Disease_Ontology DOID:12376 DOID:12376 juvenile spinal muscular atrophy Disease_Ontology DOID:12377 DOID:12377 spinal muscular atrophy Disease_Ontology DOID:12382 DOID:12382 complex partial epilepsy Disease_Ontology DOID:12384 DOID:12384 dysentery Disease_Ontology DOID:12385 DOID:12385 shigellosis Disease_Ontology DOID:12386 DOID:12386 balantidiasis Disease_Ontology DOID:12387 DOID:12387 nephrogenic diabetes insipidus Disease_Ontology DOID:12388 DOID:12388 neurohypophyseal diabetes insipidus Disease_Ontology DOID:12395 DOID:12395 spastic entropion Disease_Ontology DOID:12397 DOID:12397 entropion Disease_Ontology DOID:12399 DOID:12399 pathological gambling Disease_Ontology DOID:1240 DOID:1240 leukemia Disease_Ontology DOID:12400 DOID:12400 kleptomania Disease_Ontology DOID:12401 DOID:12401 intermittent explosive disorder Disease_Ontology DOID:12402 DOID:12402 pyromania Disease_Ontology DOID:12403 DOID:12403 tinea pedis Disease_Ontology DOID:1241 DOID:1241 luxation of globe Disease_Ontology DOID:1242 DOID:1242 globe disease Disease_Ontology DOID:12424 DOID:12424 thyrocalcitonin secretion disease Disease_Ontology DOID:1243 DOID:1243 labia minora cancer Disease_Ontology DOID:12445 DOID:12445 conjugate gaze palsy Disease_Ontology DOID:12449 DOID:12449 aplastic anemia Disease_Ontology DOID:1245 DOID:1245 vulva cancer Disease_Ontology DOID:12450 DOID:12450 pancytopenia Disease_Ontology DOID:12451 DOID:12451 sulfhemoglobinemia Disease_Ontology DOID:12465 DOID:12465 secondary hyperparathyroidism of renal origin Disease_Ontology DOID:12466 DOID:12466 secondary hyperparathyroidism Disease_Ontology DOID:1247 DOID:1247 blood coagulation disease Disease_Ontology DOID:12474 DOID:12474 capillariasis Disease_Ontology DOID:12475 DOID:12475 pes anserinus bursitis Disease_Ontology DOID:1248 DOID:1248 ocular hyperemia Disease_Ontology DOID:12491 DOID:12491 Vagus nerve disease Disease_Ontology DOID:125 DOID:125 vagina leiomyoma Disease_Ontology DOID:12506 DOID:12506 Bell's palsy Disease_Ontology DOID:1251 DOID:1251 tuberculous epididymitis Disease_Ontology DOID:12510 DOID:12510 retinal ischemia Disease_Ontology DOID:12514 DOID:12514 retinal perforation Disease_Ontology DOID:1252 DOID:1252 trichuriasis Disease_Ontology DOID:12522 DOID:12522 bagassosis Disease_Ontology DOID:12524 DOID:12524 plantar nerve lesion Disease_Ontology DOID:12526 DOID:12526 tarsal tunnel syndrome Disease_Ontology DOID:12527 DOID:12527 common peroneal nerve lesion Disease_Ontology DOID:12528 DOID:12528 lesion of sciatic nerve Disease_Ontology DOID:12529 DOID:12529 tibial nerve palsy Disease_Ontology DOID:12531 DOID:12531 von Willebrand's disease Disease_Ontology DOID:12537 DOID:12537 hypermobility of coccyx Disease_Ontology DOID:1254 DOID:1254 trichostrongylosis Disease_Ontology DOID:12546 DOID:12546 atrophic nonflaccid tympanic membrane Disease_Ontology DOID:12549 DOID:12549 hepatitis A Disease_Ontology DOID:1255 DOID:1255 trichostrongyloidiasis Disease_Ontology DOID:12550 DOID:12550 hepatic coma Disease_Ontology DOID:12554 DOID:12554 hemolytic-uremic syndrome Disease_Ontology DOID:12556 DOID:12556 acute kidney tubular necrosis Disease_Ontology DOID:12557 DOID:12557 Duane retraction syndrome Disease_Ontology DOID:12558 DOID:12558 chronic progressive external ophthalmoplegia Disease_Ontology DOID:12559 DOID:12559 idiopathic juvenile osteoporosis Disease_Ontology DOID:12566 DOID:12566 ulceration of vulva Disease_Ontology DOID:12568 DOID:12568 dyscalculia Disease_Ontology DOID:12570 DOID:12570 phacolytic glaucoma Disease_Ontology DOID:12571 DOID:12571 phacogenic glaucoma Disease_Ontology DOID:12573 DOID:12573 neonatal thyrotoxicosis Disease_Ontology DOID:12574 DOID:12574 posterior uveitis Disease_Ontology DOID:12577 DOID:12577 urethral obstruction Disease_Ontology DOID:12580 DOID:12580 Cri-Du-Chat syndrome Disease_Ontology DOID:12581 DOID:12581 olecranon bursitis Disease_Ontology DOID:12583 DOID:12583 velocardiofacial syndrome Disease_Ontology DOID:12594 DOID:12594 Potter's syndrome Disease_Ontology DOID:1260 DOID:1260 parametritis Disease_Ontology DOID:12603 DOID:12603 acute leukemia Disease_Ontology DOID:12637 DOID:12637 perineocele Disease_Ontology DOID:12638 DOID:12638 hypertrophic pyloric stenosis Disease_Ontology DOID:12639 DOID:12639 pyloric stenosis Disease_Ontology DOID:12641 DOID:12641 displacement of cardia through esophageal hiatus Disease_Ontology DOID:12642 DOID:12642 hiatus hernia Disease_Ontology DOID:12657 DOID:12657 vestibulocochlear nerve disease Disease_Ontology DOID:12661 DOID:12661 tooth ankylosis Disease_Ontology DOID:12662 DOID:12662 paracoccidioidomycosis Disease_Ontology DOID:12663 DOID:12663 blastomycosis Disease_Ontology DOID:12667 DOID:12667 binocular vision disease Disease_Ontology DOID:12668 DOID:12668 abnormal retinal correspondence Disease_Ontology DOID:12678 DOID:12678 hypercalcemia Disease_Ontology DOID:12679 DOID:12679 nephrocalcinosis Disease_Ontology DOID:12680 DOID:12680 pseudobulbar palsy Disease_Ontology DOID:12683 DOID:12683 vestibular neuronitis Disease_Ontology DOID:12685 DOID:12685 mixed receptive-expressive language disorder Disease_Ontology DOID:12689 DOID:12689 acoustic neuroma Disease_Ontology DOID:12697 DOID:12697 locked-in syndrome Disease_Ontology DOID:12698 DOID:12698 gynecomastia Disease_Ontology DOID:127 DOID:127 leiomyoma Disease_Ontology DOID:1270 DOID:1270 hereditary hemorrhagic telangiectasia Disease_Ontology DOID:12700 DOID:12700 hyperprolactinemia Disease_Ontology DOID:12704 DOID:12704 ataxia telangiectasia Disease_Ontology DOID:12705 DOID:12705 Friedreich ataxia Disease_Ontology DOID:12707 DOID:12707 myoclonic cerebellar dyssynergia Disease_Ontology DOID:1271 DOID:1271 capillary disease Disease_Ontology DOID:12711 DOID:12711 black piedra Disease_Ontology DOID:12712 DOID:12712 nephronophthisis Disease_Ontology DOID:12714 DOID:12714 Ellis-Van Creveld syndrome Disease_Ontology DOID:12716 DOID:12716 newborn respiratory distress syndrome Disease_Ontology DOID:12718 DOID:12718 chronic gonococcal salpingitis Disease_Ontology DOID:1272 DOID:1272 telangiectasis Disease_Ontology DOID:12720 DOID:12720 cerebral atherosclerosis Disease_Ontology DOID:12721 DOID:12721 multiple epiphyseal dysplasia Disease_Ontology DOID:1273 DOID:1273 respiratory syncytial virus infectious disease Disease_Ontology DOID:12731 DOID:12731 pars planitis Disease_Ontology DOID:12732 DOID:12732 intermediate uveitis Disease_Ontology DOID:12733 DOID:12733 hypercementosis Disease_Ontology DOID:12735 DOID:12735 hernia of ovary and fallopian tube Disease_Ontology DOID:12750 DOID:12750 cyclosporiasis Disease_Ontology DOID:12753 DOID:12753 corneal staphyloma Disease_Ontology DOID:12756 DOID:12756 lacrimal duct cancer Disease_Ontology DOID:12759 DOID:12759 choroid cancer Disease_Ontology DOID:1278 DOID:1278 tolosa-hunt syndrome Disease_Ontology DOID:12782 DOID:12782 cicatricial ectropion Disease_Ontology DOID:12783 DOID:12783 migraine without aura Disease_Ontology DOID:12785 DOID:12785 diabetic polyneuropathy Disease_Ontology DOID:1279 DOID:1279 ocular motility disease Disease_Ontology DOID:12797 DOID:12797 hallucinogen abuse Disease_Ontology DOID:12798 DOID:12798 mucopolysaccharidosis Disease_Ontology DOID:12799 DOID:12799 mucopolysaccharidosis II Disease_Ontology DOID:12800 DOID:12800 mucopolysaccharidosis VI Disease_Ontology DOID:12801 DOID:12801 mucopolysaccharidosis III Disease_Ontology DOID:12802 DOID:12802 mucopolysaccharidosis I Disease_Ontology DOID:12803 DOID:12803 mucopolysaccharidosis type VII Disease_Ontology DOID:12804 DOID:12804 mucopolysaccharidosis IV Disease_Ontology DOID:12809 DOID:12809 chronic lacrimal gland enlargement Disease_Ontology DOID:1283 DOID:1283 enterocele Disease_Ontology DOID:12835 DOID:12835 quadriplegia Disease_Ontology DOID:12836 DOID:12836 senile entropion Disease_Ontology DOID:12837 DOID:12837 thyroid crisis Disease_Ontology DOID:1284 DOID:1284 prolapse of female genital organ Disease_Ontology DOID:12841 DOID:12841 ancylostomiasis Disease_Ontology DOID:12842 DOID:12842 Guillain-Barre syndrome Disease_Ontology DOID:12849 DOID:12849 autistic disorder Disease_Ontology DOID:1285 DOID:1285 rectal disease Disease_Ontology DOID:12857 DOID:12857 retrocalcaneal bursitis Disease_Ontology DOID:12858 DOID:12858 Huntington's disease Disease_Ontology DOID:12859 DOID:12859 choreatic disease Disease_Ontology DOID:1287 DOID:1287 cardiovascular system disease Disease_Ontology DOID:12883 DOID:12883 hypochondriasis Disease_Ontology DOID:12889 DOID:12889 Miller Fisher syndrome Disease_Ontology DOID:1289 DOID:1289 neurodegenerative disease Disease_Ontology DOID:12894 DOID:12894 Sjogren's syndrome Disease_Ontology DOID:12895 DOID:12895 keratoconjunctivitis sicca Disease_Ontology DOID:12897 DOID:12897 submandibular gland disease Disease_Ontology DOID:12899 DOID:12899 benign lymphoepithelial lesion of salivary gland Disease_Ontology DOID:12900 DOID:12900 Mikulicz disease Disease_Ontology DOID:12901 DOID:12901 necrotizing sialometaplasia Disease_Ontology DOID:12904 DOID:12904 mucocele of salivary gland Disease_Ontology DOID:12905 DOID:12905 sialolithiasis Disease_Ontology DOID:12918 DOID:12918 thromboangiitis obliterans Disease_Ontology DOID:12919 DOID:12919 Plasmodium ovale malaria Disease_Ontology DOID:12926 DOID:12926 hypodermyiasis Disease_Ontology DOID:12927 DOID:12927 screw worm infectious disease Disease_Ontology DOID:12929 DOID:12929 endocardial fibroelastosis Disease_Ontology DOID:1293 DOID:1293 labia minora carcinoma Disease_Ontology DOID:12930 DOID:12930 dilated cardiomyopathy Disease_Ontology DOID:12932 DOID:12932 endomyocardial fibrosis Disease_Ontology DOID:12934 DOID:12934 Kearns-Sayre syndrome Disease_Ontology DOID:12935 DOID:12935 alcoholic cardiomyopathy Disease_Ontology DOID:1294 DOID:1294 vulva carcinoma Disease_Ontology DOID:12958 DOID:12958 paralytic lagophthalmos Disease_Ontology DOID:12959 DOID:12959 lagophthalmos Disease_Ontology DOID:12960 DOID:12960 acrocephalosyndactylia Disease_Ontology DOID:12961 DOID:12961 Poland syndrome Disease_Ontology DOID:12965 DOID:12965 subleukemic leukemia Disease_Ontology DOID:12969 DOID:12969 central nervous system leukemia Disease_Ontology DOID:12971 DOID:12971 hereditary spherocytosis Disease_Ontology DOID:12972 DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis Disease_Ontology DOID:12978 DOID:12978 Plasmodium vivax malaria Disease_Ontology DOID:12984 DOID:12984 vagus nerve neoplasm Disease_Ontology DOID:12986 DOID:12986 leukostasis Disease_Ontology DOID:12987 DOID:12987 agranulocytosis Disease_Ontology DOID:12995 DOID:12995 conduct disorder Disease_Ontology DOID:12996 DOID:12996 acute dacryocystitis Disease_Ontology DOID:12997 DOID:12997 Phlegmonous dacryocystitis Disease_Ontology DOID:13001 DOID:13001 carotid stenosis Disease_Ontology DOID:13002 DOID:13002 subclavian steal syndrome Disease_Ontology DOID:13003 DOID:13003 vertebrobasilar insufficiency Disease_Ontology DOID:13005 DOID:13005 intra-abdominal lymph node mast cell malignancy Disease_Ontology DOID:13014 DOID:13014 shipyard eye Disease_Ontology DOID:13025 DOID:13025 retinopathy of prematurity Disease_Ontology DOID:13026 DOID:13026 lobomycosis Disease_Ontology DOID:13027 DOID:13027 transient global amnesia Disease_Ontology DOID:13031 DOID:13031 balanoposthitis Disease_Ontology DOID:13033 DOID:13033 balanitis Disease_Ontology DOID:13034 DOID:13034 relapsing fever Disease_Ontology DOID:13035 DOID:13035 louse-borne relapsing fever Disease_Ontology DOID:13036 DOID:13036 tick-borne relapsing fever Disease_Ontology DOID:13037 DOID:13037 mechanical lagophthalmos Disease_Ontology DOID:13038 DOID:13038 cicatricial lagophthalmos Disease_Ontology DOID:13042 DOID:13042 persistent fetal circulation syndrome Disease_Ontology DOID:13046 DOID:13046 acute sphenoidal sinusitis Disease_Ontology DOID:13050 DOID:13050 corpus luteum cyst Disease_Ontology DOID:13060 DOID:13060 traumatic glaucoma Disease_Ontology DOID:13068 DOID:13068 renal osteodystrophy Disease_Ontology DOID:1307 DOID:1307 dementia Disease_Ontology DOID:13072 DOID:13072 acquired hyperkeratosis Disease_Ontology DOID:13074 DOID:13074 tinea unguium Disease_Ontology DOID:13078 DOID:13078 eumycotic mycetoma Disease_Ontology DOID:13080 DOID:13080 Jaccoud's syndrome Disease_Ontology DOID:13081 DOID:13081 hemangioma of subcutaneous tissue Disease_Ontology DOID:13087 DOID:13087 Lown-Ganong-Levine syndrome Disease_Ontology DOID:13088 DOID:13088 periventricular leukomalacia Disease_Ontology DOID:13089 DOID:13089 intracranial arterial disease Disease_Ontology DOID:13094 DOID:13094 branch retinal artery occlusion Disease_Ontology DOID:13095 DOID:13095 vertebral artery insufficiency Disease_Ontology DOID:13096 DOID:13096 Sneddon syndrome Disease_Ontology DOID:13097 DOID:13097 intracranial arteriosclerosis Disease_Ontology DOID:13098 DOID:13098 central retinal artery occlusion Disease_Ontology DOID:13099 DOID:13099 Moyamoya disease Disease_Ontology DOID:13100 DOID:13100 intracranial vasospasm Disease_Ontology DOID:13109 DOID:13109 bladder leiomyoma Disease_Ontology DOID:13110 DOID:13110 bladder squamous papilloma Disease_Ontology DOID:13112 DOID:13112 mechanical entropion Disease_Ontology DOID:13113 DOID:13113 cicatricial entropion Disease_Ontology DOID:13117 DOID:13117 paronychia Disease_Ontology DOID:1312 DOID:1312 focal segmental glomerulosclerosis Disease_Ontology DOID:13120 DOID:13120 protein-deficiency anemia Disease_Ontology DOID:13127 DOID:13127 gonococcal spondylitis Disease_Ontology DOID:13129 DOID:13129 severe pre-eclampsia Disease_Ontology DOID:13133 DOID:13133 HELLP syndrome Disease_Ontology DOID:13134 DOID:13134 hordeolum externum Disease_Ontology DOID:13135 DOID:13135 exophthalmic ophthalmoplegia Disease_Ontology DOID:13137 DOID:13137 Werdnig-Hoffmann disease Disease_Ontology DOID:13138 DOID:13138 acute proliferative glomerulonephritis Disease_Ontology DOID:13139 DOID:13139 crescentic glomerulonephritis Disease_Ontology DOID:13140 DOID:13140 suppurative uveitis Disease_Ontology DOID:13141 DOID:13141 uveitis Disease_Ontology DOID:13143 DOID:13143 benign secondary hypertension Disease_Ontology DOID:13145 DOID:13145 benign renovascular hypertension Disease_Ontology DOID:13146 DOID:13146 esophageal candidiasis Disease_Ontology DOID:13147 DOID:13147 fungal esophagitis Disease_Ontology DOID:13148 DOID:13148 acute cystitis Disease_Ontology DOID:13159 DOID:13159 scrotum squamous cell carcinoma Disease_Ontology DOID:13160 DOID:13160 scrotum melanoma Disease_Ontology DOID:13166 DOID:13166 allergic bronchopulmonary aspergillosis Disease_Ontology DOID:13168 DOID:13168 prepuce cancer Disease_Ontology DOID:13169 DOID:13169 spermatic cord cancer Disease_Ontology DOID:13174 DOID:13174 dissociated nystagmus Disease_Ontology DOID:13185 DOID:13185 esophageal diverticulosis Disease_Ontology DOID:13186 DOID:13186 megaesophagus Disease_Ontology DOID:13189 DOID:13189 gout Disease_Ontology DOID:1319 DOID:1319 brain cancer Disease_Ontology DOID:13195 DOID:13195 nontoxic goiter Disease_Ontology DOID:13196 DOID:13196 lingual goiter Disease_Ontology DOID:13197 DOID:13197 nodular goiter Disease_Ontology DOID:13198 DOID:13198 endemic goiter Disease_Ontology DOID:13200 DOID:13200 substernal goiter Disease_Ontology DOID:13206 DOID:13206 nodular prostate Disease_Ontology DOID:13207 DOID:13207 proliferative diabetic retinopathy Disease_Ontology DOID:13208 DOID:13208 background diabetic retinopathy Disease_Ontology DOID:13209 DOID:13209 right bundle branch block Disease_Ontology DOID:13214 DOID:13214 hole retinal cyst Disease_Ontology DOID:13222 DOID:13222 submucous uterine fibroid Disease_Ontology DOID:13223 DOID:13223 uterine fibroid Disease_Ontology DOID:13226 DOID:13226 oculoglandular tularemia Disease_Ontology DOID:13227 DOID:13227 retinal dystrophies primarily involving Bruch's membrane Disease_Ontology DOID:13238 DOID:13238 Haverhill fever Disease_Ontology DOID:13239 DOID:13239 internal pathological resorption Disease_Ontology DOID:1324 DOID:1324 lung cancer Disease_Ontology DOID:13240 DOID:13240 tooth resorption Disease_Ontology DOID:13241 DOID:13241 Behcet's disease Disease_Ontology DOID:13248 DOID:13248 mucocele of appendix Disease_Ontology DOID:13249 DOID:13249 pneumatosis cystoides intestinalis Disease_Ontology DOID:1325 DOID:1325 bronchus cancer Disease_Ontology DOID:13250 DOID:13250 diarrhea Disease_Ontology DOID:13252 DOID:13252 mesenteric vascular occlusion Disease_Ontology DOID:13254 DOID:13254 diverticulitis of colon Disease_Ontology DOID:13258 DOID:13258 typhoid fever Disease_Ontology DOID:13268 DOID:13268 porphyria Disease_Ontology DOID:13269 DOID:13269 hereditary coproporphyria Disease_Ontology DOID:13270 DOID:13270 erythropoietic protoporphyria Disease_Ontology DOID:13271 DOID:13271 cutaneous porphyria Disease_Ontology DOID:13272 DOID:13272 Klebsiella pneumonia Disease_Ontology DOID:13276 DOID:13276 Mycoplasma pneumoniae pneumonia Disease_Ontology DOID:1328 DOID:1328 Rift Valley fever Disease_Ontology DOID:13282 DOID:13282 intestinal tuberculosis Disease_Ontology DOID:13295 DOID:13295 crater-like holes of optic disc Disease_Ontology DOID:133 DOID:133 vaginal Mullerian papilloma Disease_Ontology DOID:13300 DOID:13300 Scheuermann's disease Disease_Ontology DOID:13306 DOID:13306 diphtheritic cystitis Disease_Ontology DOID:13310 DOID:13310 diphtheritic peritonitis Disease_Ontology DOID:13313 DOID:13313 pancreatic mucinous ductal ectasia Disease_Ontology DOID:13316 DOID:13316 exocrine pancreatic insufficiency Disease_Ontology DOID:13317 DOID:13317 hyperinsulinemic hypoglycemia Disease_Ontology DOID:13326 DOID:13326 chronic follicular conjunctivitis Disease_Ontology DOID:13327 DOID:13327 anatomical narrow angle borderline glaucoma Disease_Ontology DOID:13328 DOID:13328 diabetic cataract Disease_Ontology DOID:13329 DOID:13329 toxic optic neuropathy Disease_Ontology DOID:13333 DOID:13333 hypertrophy of tongue papillae Disease_Ontology DOID:13336 DOID:13336 congenital toxoplasmosis Disease_Ontology DOID:13341 DOID:13341 parasitic conjunctivitis Disease_Ontology DOID:13348 DOID:13348 laryngeal cartilage cancer Disease_Ontology DOID:13351 DOID:13351 pedophilia Disease_Ontology DOID:13352 DOID:13352 ego-dystonic sexual orientation Disease_Ontology DOID:13353 DOID:13353 diffuse interstitial keratitis Disease_Ontology DOID:13356 DOID:13356 senile ectropion Disease_Ontology DOID:13357 DOID:13357 chondromalacia patellae Disease_Ontology DOID:13359 DOID:13359 Ehlers-Danlos syndrome Disease_Ontology DOID:13365 DOID:13365 reading disorder Disease_Ontology DOID:13366 DOID:13366 Stiff-Person syndrome Disease_Ontology DOID:13368 DOID:13368 tinea profunda Disease_Ontology DOID:13369 DOID:13369 tinea manuum Disease_Ontology DOID:13371 DOID:13371 scrub typhus Disease_Ontology DOID:13372 DOID:13372 alpha 1-antitrypsin deficiency Disease_Ontology DOID:13374 DOID:13374 fibrodysplasia ossificans progressiva Disease_Ontology DOID:13375 DOID:13375 temporal arteritis Disease_Ontology DOID:13378 DOID:13378 Kawasaki disease Disease_Ontology DOID:1338 DOID:1338 congenital dyserythropoietic anemia Disease_Ontology DOID:13381 DOID:13381 pernicious anemia Disease_Ontology DOID:13382 DOID:13382 megaloblastic anemia Disease_Ontology DOID:13386 DOID:13386 gastrointestinal anthrax Disease_Ontology DOID:13389 DOID:13389 labia majora carcinoma Disease_Ontology DOID:1339 DOID:1339 Diamond-Blackfan anemia Disease_Ontology DOID:13399 DOID:13399 color blindness Disease_Ontology DOID:134 DOID:134 vaginal glandular tumor Disease_Ontology DOID:1340 DOID:1340 pure red-cell aplasia Disease_Ontology DOID:13401 DOID:13401 angioid streaks Disease_Ontology DOID:13402 DOID:13402 skin sarcoidosis Disease_Ontology DOID:13403 DOID:13403 neurosarcoidosis Disease_Ontology DOID:13404 DOID:13404 uveoparotid fever Disease_Ontology DOID:13405 DOID:13405 cardiac sarcoidosis Disease_Ontology DOID:13406 DOID:13406 pulmonary sarcoidosis Disease_Ontology DOID:13407 DOID:13407 hypercalcemic sarcoidosis Disease_Ontology DOID:13409 DOID:13409 perforation of bile duct Disease_Ontology DOID:13413 DOID:13413 hepatic encephalopathy Disease_Ontology DOID:13417 DOID:13417 alexia Disease_Ontology DOID:13419 DOID:13419 neurogenic bowel Disease_Ontology DOID:1342 DOID:1342 congenital hypoplastic anemia Disease_Ontology DOID:1343 DOID:1343 urethritis Disease_Ontology DOID:13431 DOID:13431 bejel Disease_Ontology DOID:13444 DOID:13444 glanders Disease_Ontology DOID:13446 DOID:13446 basilar artery occlusion Disease_Ontology DOID:13447 DOID:13447 corneal argyrosis Disease_Ontology DOID:13448 DOID:13448 posterior corneal pigmentation Disease_Ontology DOID:13450 DOID:13450 coccidioidomycosis Disease_Ontology DOID:13452 DOID:13452 scleritis Disease_Ontology DOID:13453 DOID:13453 gonococcal bursitis Disease_Ontology DOID:13454 DOID:13454 gonococcal synovitis Disease_Ontology DOID:13461 DOID:13461 urethral intrinsic sphincter deficiency Disease_Ontology DOID:13473 DOID:13473 central pterygium Disease_Ontology DOID:13474 DOID:13474 progressive peripheral pterygium Disease_Ontology DOID:13476 DOID:13476 supraglottis cancer Disease_Ontology DOID:13477 DOID:13477 balanitis xerotica obliterans Disease_Ontology DOID:13481 DOID:13481 thanatophoric dysplasia Disease_Ontology DOID:13482 DOID:13482 Proteus syndrome Disease_Ontology DOID:13487 DOID:13487 childhood disintegrative disease Disease_Ontology DOID:13490 DOID:13490 active cochleovestibular Meniere's disease Disease_Ontology DOID:13491 DOID:13491 active vestibular Meniere's disease Disease_Ontology DOID:13492 DOID:13492 active cochlear Meniere's disease Disease_Ontology DOID:13498 DOID:13498 urethral syndrome Disease_Ontology DOID:13499 DOID:13499 jejunal cancer Disease_Ontology DOID:135 DOID:135 benign vaginal carcinosarcoma Disease_Ontology DOID:1350 DOID:1350 paranasal sinus benign neoplasm Disease_Ontology DOID:13500 DOID:13500 hairy tongue Disease_Ontology DOID:13501 DOID:13501 Moebius syndrome Disease_Ontology DOID:13507 DOID:13507 trigonitis Disease_Ontology DOID:13514 DOID:13514 venous tributary occlusion of retina Disease_Ontology DOID:13515 DOID:13515 tuberous sclerosis Disease_Ontology DOID:1352 DOID:1352 paranasal sinus disease Disease_Ontology DOID:13520 DOID:13520 neonatal infective mastitis Disease_Ontology DOID:13521 DOID:13521 tetanus neonatorum Disease_Ontology DOID:13523 DOID:13523 loiasis Disease_Ontology DOID:13533 DOID:13533 osteopetrosis Disease_Ontology DOID:13534 DOID:13534 purulent labyrinthitis Disease_Ontology DOID:13538 DOID:13538 cornea squamous cell carcinoma Disease_Ontology DOID:13543 DOID:13543 hyperparathyroidism Disease_Ontology DOID:13544 DOID:13544 low tension glaucoma Disease_Ontology DOID:13548 DOID:13548 secondary Parkinson disease Disease_Ontology DOID:13549 DOID:13549 interval angle-closure glaucoma Disease_Ontology DOID:1355 DOID:1355 paranasal sinus lymphoma Disease_Ontology DOID:13550 DOID:13550 angle-closure glaucoma Disease_Ontology DOID:13560 DOID:13560 subserous uterine fibroid Disease_Ontology DOID:13561 DOID:13561 optic disk drusen Disease_Ontology DOID:13564 DOID:13564 aspergillosis Disease_Ontology DOID:13565 DOID:13565 neuroaspergillosis Disease_Ontology DOID:13566 DOID:13566 tibial collateral ligament bursitis Disease_Ontology DOID:1357 DOID:1357 maxillary sinus cancer Disease_Ontology DOID:13574 DOID:13574 cortical senile cataract Disease_Ontology DOID:13575 DOID:13575 non-renal secondary hyperparathyroidism Disease_Ontology DOID:13576 DOID:13576 twin-to-twin transfusion syndrome Disease_Ontology DOID:13579 DOID:13579 kwashiorkor Disease_Ontology DOID:1358 DOID:1358 maxillary sinus benign neoplasm Disease_Ontology DOID:13580 DOID:13580 cholestasis Disease_Ontology DOID:13585 DOID:13585 alveolar periostitis Disease_Ontology DOID:13589 DOID:13589 female infertility of uterine origin Disease_Ontology DOID:13593 DOID:13593 eclampsia Disease_Ontology DOID:136 DOID:136 vaginal carcinosarcoma Disease_Ontology DOID:1360 DOID:1360 frontal sinus cancer Disease_Ontology DOID:13603 DOID:13603 obstructive jaundice Disease_Ontology DOID:13608 DOID:13608 biliary atresia Disease_Ontology DOID:1361 DOID:1361 frontal sinus benign neoplasm Disease_Ontology DOID:13619 DOID:13619 extrahepatic cholestasis Disease_Ontology DOID:1362 DOID:1362 paranasal sinus sarcoma Disease_Ontology DOID:13620 DOID:13620 patent foramen ovale Disease_Ontology DOID:13622 DOID:13622 campylobacteriosis Disease_Ontology DOID:13626 DOID:13626 photokeratitis Disease_Ontology DOID:13628 DOID:13628 favism Disease_Ontology DOID:13629 DOID:13629 dentine erosion Disease_Ontology DOID:1363 DOID:1363 ethmoid sinus cancer Disease_Ontology DOID:13636 DOID:13636 Fanconi anemia Disease_Ontology DOID:1364 DOID:1364 ethmoidal sinus benign neoplasm Disease_Ontology DOID:13641 DOID:13641 exfoliation syndrome Disease_Ontology DOID:13649 DOID:13649 polyneuropathy in collagen vascular disease Disease_Ontology DOID:13651 DOID:13651 eversion of lacrimal punctum Disease_Ontology DOID:13653 DOID:13653 stenosis of lacrimal punctum Disease_Ontology DOID:13654 DOID:13654 stenosis of lacrimal passage Disease_Ontology DOID:13655 DOID:13655 acquired tear duct stenosis Disease_Ontology DOID:13656 DOID:13656 gastrin secretion abnormality Disease_Ontology DOID:13658 DOID:13658 infective urethral stricture Disease_Ontology DOID:13662 DOID:13662 ulcer of anus and rectum Disease_Ontology DOID:13664 DOID:13664 post-vaccinal encephalitis Disease_Ontology DOID:13676 DOID:13676 posterior scleritis Disease_Ontology DOID:13677 DOID:13677 SAPHO syndrome Disease_Ontology DOID:13687 DOID:13687 chronic duodenal ileus Disease_Ontology DOID:13689 DOID:13689 prostate calculus Disease_Ontology DOID:13690 DOID:13690 acute gonococcal cystitis Disease_Ontology DOID:13691 DOID:13691 dermoid cyst of skin Disease_Ontology DOID:137 DOID:137 vaginal squamous papilloma Disease_Ontology DOID:13709 DOID:13709 premature ejaculation Disease_Ontology DOID:1371 DOID:1371 uterine corpus adenomatoid tumor Disease_Ontology DOID:13711 DOID:13711 dental fluorosis Disease_Ontology DOID:13714 DOID:13714 anodontia Disease_Ontology DOID:13717 DOID:13717 mature cataract Disease_Ontology DOID:13722 DOID:13722 neuroschistosomiasis Disease_Ontology DOID:13724 DOID:13724 scurvy Disease_Ontology DOID:13725 DOID:13725 beriberi Disease_Ontology DOID:1373 DOID:1373 endometrial stromal nodule Disease_Ontology DOID:13730 DOID:13730 malignant renovascular hypertension Disease_Ontology DOID:13731 DOID:13731 malignant secondary hypertension Disease_Ontology DOID:13732 DOID:13732 panophthalmitis Disease_Ontology DOID:13736 DOID:13736 uterine inflammatory disease Disease_Ontology DOID:13738 DOID:13738 hepatic infarction Disease_Ontology DOID:13739 DOID:13739 nutmeg liver Disease_Ontology DOID:13742 DOID:13742 neurofibroma of spinal cord Disease_Ontology DOID:13743 DOID:13743 spinal cord lipoma Disease_Ontology DOID:1375 DOID:1375 neonatal urinary tract infectious disease Disease_Ontology DOID:13756 DOID:13756 epiphora due to insufficient drainage Disease_Ontology DOID:13757 DOID:13757 excessive tearing Disease_Ontology DOID:13760 DOID:13760 Pthirus pubis infestation Disease_Ontology DOID:13767 DOID:13767 clonorchiasis Disease_Ontology DOID:13768 DOID:13768 opisthorchiasis Disease_Ontology DOID:13774 DOID:13774 Addison's disease Disease_Ontology DOID:13775 DOID:13775 plantar wart Disease_Ontology DOID:13777 DOID:13777 epidermodysplasia verruciformis Disease_Ontology DOID:13778 DOID:13778 chancroid Disease_Ontology DOID:13781 DOID:13781 hypermobility syndrome Disease_Ontology DOID:13787 DOID:13787 localized anterior staphyloma Disease_Ontology DOID:13788 DOID:13788 equatorial staphyloma Disease_Ontology DOID:13789 DOID:13789 staphyloma posticum Disease_Ontology DOID:13790 DOID:13790 acute tympanitis Disease_Ontology DOID:13791 DOID:13791 myringitis bullosa hemorrhagica Disease_Ontology DOID:13794 DOID:13794 anterior scleritis Disease_Ontology DOID:13799 DOID:13799 female breast central part cancer Disease_Ontology DOID:138 DOID:138 vaginal squamous tumor Disease_Ontology DOID:1380 DOID:1380 endometrial cancer Disease_Ontology DOID:13800 DOID:13800 inclusion conjunctivitis Disease_Ontology DOID:13801 DOID:13801 pharyngoconjunctival fever Disease_Ontology DOID:13809 DOID:13809 familial combined hyperlipidemia Disease_Ontology DOID:1381 DOID:1381 Fox-Fordyce disease Disease_Ontology DOID:13810 DOID:13810 familial hypercholesterolemia Disease_Ontology DOID:13811 DOID:13811 chronic subinvolution of uterus Disease_Ontology DOID:13812 DOID:13812 adhesions of uterus Disease_Ontology DOID:13814 DOID:13814 hypoglossal nerve disease Disease_Ontology DOID:13819 DOID:13819 lymphogranuloma venereum Disease_Ontology DOID:1382 DOID:1382 miliaria Disease_Ontology DOID:13822 DOID:13822 tetanic cataract Disease_Ontology DOID:13823 DOID:13823 parasitic eyelid infestation Disease_Ontology DOID:13825 DOID:13825 squamous blepharitis Disease_Ontology DOID:1383 DOID:1383 sweat gland disease Disease_Ontology DOID:13832 DOID:13832 patent ductus arteriosus Disease_Ontology DOID:13839 DOID:13839 extrapyramidal and movement disease Disease_Ontology DOID:1386 DOID:1386 abetalipoproteinemia Disease_Ontology DOID:13861 DOID:13861 scleroperikeratitis Disease_Ontology DOID:13862 DOID:13862 acute closed-angle glaucoma Disease_Ontology DOID:13864 DOID:13864 trochlear nerve disease Disease_Ontology DOID:13865 DOID:13865 facial neuralgia Disease_Ontology DOID:13866 DOID:13866 multiple cranial nerve palsy Disease_Ontology DOID:13867 DOID:13867 focal labyrinthitis Disease_Ontology DOID:13868 DOID:13868 hypoactive sexual desire disorder Disease_Ontology DOID:1387 DOID:1387 hypolipoproteinemia Disease_Ontology DOID:1388 DOID:1388 Tangier disease Disease_Ontology DOID:13884 DOID:13884 sick sinus syndrome Disease_Ontology DOID:1389 DOID:1389 polyneuropathy Disease_Ontology DOID:13891 DOID:13891 bird fancier's lung Disease_Ontology DOID:139 DOID:139 squamous cell papilloma Disease_Ontology DOID:1390 DOID:1390 hypobetalipoproteinemia Disease_Ontology DOID:13902 DOID:13902 white piedra Disease_Ontology DOID:13909 DOID:13909 red-green color blindness Disease_Ontology DOID:1391 DOID:1391 Norum disease Disease_Ontology DOID:13910 DOID:13910 red color blindness Disease_Ontology DOID:13911 DOID:13911 achromatopsia Disease_Ontology DOID:13912 DOID:13912 acquired color blindness Disease_Ontology DOID:13913 DOID:13913 lumbosacral plexus lesion Disease_Ontology DOID:13918 DOID:13918 somatization disorder Disease_Ontology DOID:13919 DOID:13919 irregular astigmatism Disease_Ontology DOID:1392 DOID:1392 pseudopapilledema Disease_Ontology DOID:13921 DOID:13921 bacterial esophagitis Disease_Ontology DOID:13922 DOID:13922 eosinophilic esophagitis Disease_Ontology DOID:13924 DOID:13924 necrotizing ulcerative gingivitis Disease_Ontology DOID:13929 DOID:13929 lacrimal duct obstruction Disease_Ontology DOID:1393 DOID:1393 visual pathway disease Disease_Ontology DOID:13934 DOID:13934 facial paralysis Disease_Ontology DOID:13938 DOID:13938 amenorrhea Disease_Ontology DOID:1394 DOID:1394 urinary schistosomiasis Disease_Ontology DOID:13941 DOID:13941 benign paroxysmal positional vertigo Disease_Ontology DOID:13942 DOID:13942 acute gonococcal salpingitis Disease_Ontology DOID:13943 DOID:13943 acute gonococcal prostatitis Disease_Ontology DOID:13945 DOID:13945 CADASIL Disease_Ontology DOID:13948 DOID:13948 bladder neck obstruction Disease_Ontology DOID:13949 DOID:13949 interstitial cystitis Disease_Ontology DOID:1395 DOID:1395 schistosomiasis Disease_Ontology DOID:13951 DOID:13951 uterine corpus epithelioid leiomyoma Disease_Ontology DOID:13953 DOID:13953 uterine corpus dissecting leiomyoma Disease_Ontology DOID:13955 DOID:13955 uterus interstitial leiomyoma Disease_Ontology DOID:13956 DOID:13956 uterine corpus myxoid leiomyoma Disease_Ontology DOID:13957 DOID:13957 uterine corpus lipoleiomyoma Disease_Ontology DOID:13958 DOID:13958 uterine corpus bizarre leiomyoma Disease_Ontology DOID:13963 DOID:13963 nuclear senile cataract Disease_Ontology DOID:13964 DOID:13964 Morgagni cataract Disease_Ontology DOID:1397 DOID:1397 chronic orbital inflammation Disease_Ontology DOID:13972 DOID:13972 female breast lower-outer quadrant cancer Disease_Ontology DOID:13976 DOID:13976 peptic esophagitis Disease_Ontology DOID:1398 DOID:1398 parasitic infectious disease Disease_Ontology DOID:1399 DOID:1399 primary lacrimal atrophy Disease_Ontology DOID:13994 DOID:13994 cleidocranial dysplasia Disease_Ontology DOID:13996 DOID:13996 small intestine lymphoma Disease_Ontology DOID:13999 DOID:13999 contact blepharoconjunctivitis Disease_Ontology DOID:1400 DOID:1400 lacrimal apparatus disease Disease_Ontology DOID:14000 DOID:14000 rubeosis iridis Disease_Ontology DOID:14004 DOID:14004 thoracic aortic aneurysm Disease_Ontology DOID:14006 DOID:14006 splenic artery aneurysm Disease_Ontology DOID:14018 DOID:14018 alcoholic liver cirrhosis Disease_Ontology DOID:14019 DOID:14019 Brucella canis brucellosis Disease_Ontology DOID:14021 DOID:14021 Tietze's syndrome Disease_Ontology DOID:14022 DOID:14022 algoneurodystrophy Disease_Ontology DOID:14026 DOID:14026 folic acid deficiency anemia Disease_Ontology DOID:14032 DOID:14032 malignant parietal pleura tumor Disease_Ontology DOID:14033 DOID:14033 malignant visceral pleura tumor Disease_Ontology DOID:14037 DOID:14037 aorta atresia Disease_Ontology DOID:14039 DOID:14039 POEMS syndrome Disease_Ontology DOID:1404 DOID:1404 residual stage angle-closure glaucoma Disease_Ontology DOID:14040 DOID:14040 autoimmune polyendocrine syndrome Disease_Ontology DOID:14042 DOID:14042 bipolar I disorder Disease_Ontology DOID:14043 DOID:14043 neonatal myasthenia gravis Disease_Ontology DOID:14049 DOID:14049 phaeohyphomycosis Disease_Ontology DOID:1405 DOID:1405 primary angle-closure glaucoma Disease_Ontology DOID:14059 DOID:14059 paraurethral gland cancer Disease_Ontology DOID:1406 DOID:1406 iritis Disease_Ontology DOID:14064 DOID:14064 acute poststreptococcal glomerulonephritis Disease_Ontology DOID:14066 DOID:14066 acute diffuse nephritis Disease_Ontology DOID:14067 DOID:14067 Plasmodium falciparum malaria Disease_Ontology DOID:14068 DOID:14068 blackwater fever Disease_Ontology DOID:14069 DOID:14069 cerebral malaria Disease_Ontology DOID:1407 DOID:1407 anterior uveitis Disease_Ontology DOID:14070 DOID:14070 vestibular nystagmus Disease_Ontology DOID:14075 DOID:14075 geniculate ganglionitis Disease_Ontology DOID:14080 DOID:14080 glucocorticoid-remediable aldosteronism Disease_Ontology DOID:14081 DOID:14081 toxic labyrinthitis Disease_Ontology DOID:14087 DOID:14087 epicondylitis Disease_Ontology DOID:14089 DOID:14089 root caries Disease_Ontology DOID:14092 DOID:14092 renal artery atheroma Disease_Ontology DOID:14095 DOID:14095 boutonneuse fever Disease_Ontology DOID:14096 DOID:14096 infertility due to extratesticular cause Disease_Ontology DOID:14099 DOID:14099 acquired gastric outlet stenosis Disease_Ontology DOID:14107 DOID:14107 De Quervain disease Disease_Ontology DOID:14110 DOID:14110 anus cancer Disease_Ontology DOID:14111 DOID:14111 median rhomboid glossitis Disease_Ontology DOID:14115 DOID:14115 toxic shock syndrome Disease_Ontology DOID:14116 DOID:14116 multiple symmetric lipomatosis Disease_Ontology DOID:14118 DOID:14118 familial lipoprotein lipase deficiency Disease_Ontology DOID:1412 DOID:1412 bacteriuria Disease_Ontology DOID:14121 DOID:14121 blue toe syndrome Disease_Ontology DOID:14125 DOID:14125 abducens nerve neoplasm Disease_Ontology DOID:14130 DOID:14130 lateral cystocele Disease_Ontology DOID:14131 DOID:14131 midline cystocele Disease_Ontology DOID:14133 DOID:14133 Masters-Allen syndrome Disease_Ontology DOID:14139 DOID:14139 anus lymphoma Disease_Ontology DOID:1414 DOID:1414 ovarian dysfunction Disease_Ontology DOID:14140 DOID:14140 pulp erosion Disease_Ontology DOID:14145 DOID:14145 malignant anus melanoma Disease_Ontology DOID:14146 DOID:14146 ureterolithiasis Disease_Ontology DOID:1415 DOID:1415 gyrate atrophy Disease_Ontology DOID:14150 DOID:14150 spinal cord lymphoma Disease_Ontology DOID:14151 DOID:14151 spinal cord melanoma Disease_Ontology DOID:14152 DOID:14152 spinal cord sarcoma Disease_Ontology DOID:14155 DOID:14155 acute retrobulbar neuritis Disease_Ontology DOID:14159 DOID:14159 obstructive hydrocephalus Disease_Ontology DOID:14165 DOID:14165 bilateral hyperactive labyrinth Disease_Ontology DOID:1417 DOID:1417 choroid disease Disease_Ontology DOID:14172 DOID:14172 rheumatic congestive heart failure Disease_Ontology DOID:14174 DOID:14174 central neurocytoma Disease_Ontology DOID:14175 DOID:14175 von Hippel-Lindau disease Disease_Ontology DOID:14176 DOID:14176 selective IgG deficiency disease Disease_Ontology DOID:14177 DOID:14177 congenital hypogammaglobulinemia Disease_Ontology DOID:14179 DOID:14179 X-linked agammaglobulinemia Disease_Ontology DOID:14181 DOID:14181 calcific tendinitis Disease_Ontology DOID:14183 DOID:14183 alcoholic neuropathy Disease_Ontology DOID:14184 DOID:14184 polyneuropathy due to drug Disease_Ontology DOID:14188 DOID:14188 frozen shoulder Disease_Ontology DOID:14192 DOID:14192 bicipital tenosynovitis Disease_Ontology DOID:14199 DOID:14199 posterior dislocation of lens Disease_Ontology DOID:14202 DOID:14202 adult dermatomyositis Disease_Ontology DOID:14203 DOID:14203 childhood type dermatomyositis Disease_Ontology DOID:14213 DOID:14213 hypophosphatasia Disease_Ontology DOID:14218 DOID:14218 dihydropyrimidine dehydrogenase deficiency Disease_Ontology DOID:14219 DOID:14219 renal tubular acidosis Disease_Ontology DOID:14221 DOID:14221 abdominal obesity-metabolic syndrome 1 Disease_Ontology DOID:14223 DOID:14223 ochronosis Disease_Ontology DOID:14224 DOID:14224 tracheal calcification Disease_Ontology DOID:14225 DOID:14225 acute frontal sinusitis Disease_Ontology DOID:14227 DOID:14227 azoospermia Disease_Ontology DOID:14228 DOID:14228 oligospermia Disease_Ontology DOID:14230 DOID:14230 scleromalacia perforans Disease_Ontology DOID:14233 DOID:14233 orbital cyst Disease_Ontology DOID:14239 DOID:14239 gastrointestinal tularemia Disease_Ontology DOID:14243 DOID:14243 chronic perichondritis of pinna Disease_Ontology DOID:14244 DOID:14244 epiphora due to excess lacrimation Disease_Ontology DOID:14245 DOID:14245 cystoid macular retinal degeneration Disease_Ontology DOID:14247 DOID:14247 chronic purulent otitis media Disease_Ontology DOID:14248 DOID:14248 chronic atticoantral disease Disease_Ontology DOID:1425 DOID:1425 pyoureter Disease_Ontology DOID:14250 DOID:14250 Down syndrome Disease_Ontology DOID:14251 DOID:14251 vitreoretinal dystrophy Disease_Ontology DOID:14252 DOID:14252 dystrophies primarily involving the retinal pigment epithelium Disease_Ontology DOID:14253 DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses Disease_Ontology DOID:14256 DOID:14256 adult-onset Still's disease Disease_Ontology DOID:1426 DOID:1426 ureteral disease Disease_Ontology DOID:14261 DOID:14261 fragile X syndrome Disease_Ontology DOID:14262 DOID:14262 oral candidiasis Disease_Ontology DOID:14264 DOID:14264 benign neonatal seizures Disease_Ontology DOID:14265 DOID:14265 pulmonary valve insufficiency Disease_Ontology DOID:14268 DOID:14268 sclerosing cholangitis Disease_Ontology DOID:14269 DOID:14269 suppurative cholangitis Disease_Ontology DOID:14270 DOID:14270 ascending cholangitis Disease_Ontology DOID:14271 DOID:14271 acute cholangitis Disease_Ontology DOID:14272 DOID:14272 pericholangitis Disease_Ontology DOID:14275 DOID:14275 atrophic vulva Disease_Ontology DOID:14276 DOID:14276 shoulder impingement syndrome Disease_Ontology DOID:1428 DOID:1428 endocrine pancreas disease Disease_Ontology DOID:14283 DOID:14283 primary hypertrophic osteoarthropathy Disease_Ontology DOID:14284 DOID:14284 patellofemoral pain syndrome Disease_Ontology DOID:14286 DOID:14286 neurogenic arthropathy Disease_Ontology DOID:14287 DOID:14287 brawny scleritis Disease_Ontology DOID:14289 DOID:14289 Ebstein anomaly Disease_Ontology DOID:14291 DOID:14291 Noonan syndrome with multiple lentigines Disease_Ontology DOID:14292 DOID:14292 vulvar dystrophy Disease_Ontology DOID:14305 DOID:14305 tuberculous empyema Disease_Ontology DOID:14308 DOID:14308 skin epithelioid hemangioma Disease_Ontology DOID:14319 DOID:14319 pleuropneumonia Disease_Ontology DOID:1432 DOID:1432 blindness Disease_Ontology DOID:14320 DOID:14320 generalized anxiety disorder Disease_Ontology DOID:14323 DOID:14323 Marfan syndrome Disease_Ontology DOID:14324 DOID:14324 Plasmodium malariae malaria Disease_Ontology DOID:14325 DOID:14325 mixed malaria Disease_Ontology DOID:14330 DOID:14330 Parkinson's disease Disease_Ontology DOID:14332 DOID:14332 postencephalitic Parkinson disease Disease_Ontology DOID:14336 DOID:14336 estrogen excess Disease_Ontology DOID:14350 DOID:14350 suppurative thyroiditis Disease_Ontology DOID:14351 DOID:14351 Riedel's fibrosing thyroiditis Disease_Ontology DOID:14353 DOID:14353 acute thyroiditis Disease_Ontology DOID:1436 DOID:1436 corneal ectasia Disease_Ontology DOID:14365 DOID:14365 systemic primary carnitine deficiency disease Disease_Ontology DOID:14374 DOID:14374 norwegian scabies Disease_Ontology DOID:14384 DOID:14384 parietal lobe neoplasm Disease_Ontology DOID:1439 DOID:1439 pyuria Disease_Ontology DOID:14392 DOID:14392 thrombophlebitis migrans Disease_Ontology DOID:14397 DOID:14397 protozoal dysentery Disease_Ontology DOID:1440 DOID:1440 Machado-Joseph disease Disease_Ontology DOID:14400 DOID:14400 capillary leak syndrome Disease_Ontology DOID:14402 DOID:14402 critical illness polyneuropathy Disease_Ontology DOID:1441 DOID:1441 autosomal dominant cerebellar ataxia Disease_Ontology DOID:14413 DOID:14413 labyrinthine bilateral reactive loss Disease_Ontology DOID:14415 DOID:14415 Legg-Calve-Perthes disease Disease_Ontology DOID:14418 DOID:14418 dracunculiasis Disease_Ontology DOID:14422 DOID:14422 dipetalonemiasis Disease_Ontology DOID:14423 DOID:14423 glossopharyngeal neuralgia Disease_Ontology DOID:14427 DOID:14427 abnormality of glucagon secretion Disease_Ontology DOID:1443 DOID:1443 cerebral degeneration Disease_Ontology DOID:14435 DOID:14435 chronic tubotympanic suppurative otitis media Disease_Ontology DOID:14443 DOID:14443 cholinergic urticaria Disease_Ontology DOID:14444 DOID:14444 sclerosing keratitis Disease_Ontology DOID:14445 DOID:14445 chronic closed-angle glaucoma Disease_Ontology DOID:14447 DOID:14447 gonadal dysgenesis Disease_Ontology DOID:14448 DOID:14448 46,XY complete gonadal dysgenesis Disease_Ontology DOID:14449 DOID:14449 mixed gonadal dysgenesis Disease_Ontology DOID:14450 DOID:14450 46 XX gonadal dysgenesis Disease_Ontology DOID:14451 DOID:14451 hyperkalemic periodic paralysis Disease_Ontology DOID:14452 DOID:14452 hypokalemic periodic paralysis Disease_Ontology DOID:14453 DOID:14453 farmer's lung Disease_Ontology DOID:14456 DOID:14456 Brucella melitensis brucellosis Disease_Ontology DOID:14457 DOID:14457 Brucella abortus brucellosis Disease_Ontology DOID:14459 DOID:14459 hemangioma of orbit Disease_Ontology DOID:14463 DOID:14463 cavernous hemangioma of orbit Disease_Ontology DOID:14464 DOID:14464 neuroleptic malignant syndrome Disease_Ontology DOID:14472 DOID:14472 hantavirus pulmonary syndrome Disease_Ontology DOID:14482 DOID:14482 pemphigoid gestationis Disease_Ontology DOID:14483 DOID:14483 chorea gravidarum Disease_Ontology DOID:14484 DOID:14484 sporotrichosis Disease_Ontology DOID:14489 DOID:14489 ureteral lymphoma Disease_Ontology DOID:14491 DOID:14491 regional ureteric cancer Disease_Ontology DOID:14495 DOID:14495 dumping syndrome Disease_Ontology DOID:14497 DOID:14497 Wolman disease Disease_Ontology DOID:14498 DOID:14498 lipoid proteinosis Disease_Ontology DOID:14499 DOID:14499 Fabry disease Disease_Ontology DOID:14500 DOID:14500 fucosidosis Disease_Ontology DOID:14501 DOID:14501 Sjogren-Larsson syndrome Disease_Ontology DOID:14502 DOID:14502 cholesterol ester storage disease Disease_Ontology DOID:14503 DOID:14503 neuronal ceroid lipofuscinosis Disease_Ontology DOID:14504 DOID:14504 Niemann-Pick disease Disease_Ontology DOID:14507 DOID:14507 peripheral degeneration of cornea Disease_Ontology DOID:14512 DOID:14512 candidal paronychia Disease_Ontology DOID:14515 DOID:14515 WAGR syndrome Disease_Ontology DOID:14522 DOID:14522 partial arterial retinal occlusion Disease_Ontology DOID:14523 DOID:14523 Argyll Robertson pupil Disease_Ontology DOID:14524 DOID:14524 senile degeneration of brain Disease_Ontology DOID:14525 DOID:14525 Reye syndrome Disease_Ontology DOID:14529 DOID:14529 external pathological resorption Disease_Ontology DOID:1453 DOID:1453 atrophic glossitis Disease_Ontology DOID:14534 DOID:14534 malignant cardiac peripheral nerve sheath neoplasm Disease_Ontology DOID:14535 DOID:14535 malignant cardiac germ cell tumor Disease_Ontology DOID:14544 DOID:14544 rete testis adenocarcinoma Disease_Ontology DOID:14545 DOID:14545 seminal vesicle adenocarcinoma Disease_Ontology DOID:14546 DOID:14546 sphenoidal sinus cancer Disease_Ontology DOID:14547 DOID:14547 sphenoid sinus squamous cell carcinoma Disease_Ontology DOID:14548 DOID:14548 steroid-induced glaucoma - borderline Disease_Ontology DOID:1455 DOID:1455 geographic tongue Disease_Ontology DOID:14550 DOID:14550 root resorption Disease_Ontology DOID:14555 DOID:14555 Foster-Kennedy syndrome Disease_Ontology DOID:14557 DOID:14557 primary pulmonary hypertension Disease_Ontology DOID:14559 DOID:14559 anaerobic meningitis Disease_Ontology DOID:1456 DOID:1456 glossitis Disease_Ontology DOID:14566 DOID:14566 disease of cellular proliferation Disease_Ontology DOID:1458 DOID:1458 postsurgical hypothyroidism Disease_Ontology DOID:1459 DOID:1459 hypothyroidism Disease_Ontology DOID:146 DOID:146 papilledema Disease_Ontology DOID:1460 DOID:1460 atheroembolism of kidney Disease_Ontology DOID:1461 DOID:1461 cholesterol embolism Disease_Ontology DOID:14654 DOID:14654 prostatitis Disease_Ontology DOID:14669 DOID:14669 acrodysostosis Disease_Ontology DOID:1467 DOID:1467 serous labyrinthitis Disease_Ontology DOID:14670 DOID:14670 hypertelorism, microtia, facial clefting syndrome Disease_Ontology DOID:14671 DOID:14671 multiple intestinal atresia Disease_Ontology DOID:14679 DOID:14679 VACTERL association Disease_Ontology DOID:1468 DOID:1468 labyrinthitis Disease_Ontology DOID:14681 DOID:14681 Silver-Russell syndrome Disease_Ontology DOID:14683 DOID:14683 Binder syndrome Disease_Ontology DOID:14686 DOID:14686 Axenfeld-Rieger syndrome Disease_Ontology DOID:14687 DOID:14687 diastrophic dysplasia Disease_Ontology DOID:14692 DOID:14692 Smith-Lemli-Opitz syndrome Disease_Ontology DOID:14693 DOID:14693 Clouston syndrome Disease_Ontology DOID:14694 DOID:14694 Johanson-Blizzard syndrome Disease_Ontology DOID:14695 DOID:14695 galactokinase deficiency Disease_Ontology DOID:14699 DOID:14699 thrombocytopenia-absent radius syndrome Disease_Ontology DOID:1470 DOID:1470 major depressive disorder Disease_Ontology DOID:14701 DOID:14701 propionic acidemia Disease_Ontology DOID:14702 DOID:14702 branchiootorenal syndrome Disease_Ontology DOID:14705 DOID:14705 Pfeiffer syndrome Disease_Ontology DOID:14711 DOID:14711 FG syndrome Disease_Ontology DOID:14717 DOID:14717 centronuclear myopathy Disease_Ontology DOID:14720 DOID:14720 Ehlers-Danlos syndrome classic type 1 Disease_Ontology DOID:14723 DOID:14723 beta-ketothiolase deficiency Disease_Ontology DOID:14725 DOID:14725 autosomal dominant microcephaly Disease_Ontology DOID:14731 DOID:14731 Weaver syndrome Disease_Ontology DOID:14735 DOID:14735 hereditary angioedema Disease_Ontology DOID:14737 DOID:14737 craniofrontonasal syndrome Disease_Ontology DOID:1474 DOID:1474 aggressive periodontitis Disease_Ontology DOID:14743 DOID:14743 trichorhinophalangeal syndrome type I Disease_Ontology DOID:14744 DOID:14744 Partington syndrome Disease_Ontology DOID:14748 DOID:14748 Sotos syndrome Disease_Ontology DOID:14749 DOID:14749 methylmalonic acidemia Disease_Ontology DOID:1475 DOID:1475 lymphangioma Disease_Ontology DOID:14753 DOID:14753 isovaleric acidemia Disease_Ontology DOID:14755 DOID:14755 argininosuccinic aciduria Disease_Ontology DOID:14756 DOID:14756 vascular type Ehlers-Danlos syndrome Disease_Ontology DOID:14757 DOID:14757 Ehlers-Danlos syndrome hypermobility type Disease_Ontology DOID:14759 DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome Disease_Ontology DOID:14761 DOID:14761 Greig cephalopolysyndactyly syndrome Disease_Ontology DOID:14762 DOID:14762 calcaneonavicular coalition Disease_Ontology DOID:14764 DOID:14764 Larsen syndrome Disease_Ontology DOID:14766 DOID:14766 renal agenesis Disease_Ontology DOID:14768 DOID:14768 Saethre-Chotzen syndrome Disease_Ontology DOID:14773 DOID:14773 cartilage-hair hypoplasia Disease_Ontology DOID:14775 DOID:14775 brittle cornea syndrome 1 Disease_Ontology DOID:14777 DOID:14777 benign familial neonatal epilepsy Disease_Ontology DOID:14778 DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome Disease_Ontology DOID:14780 DOID:14780 KBG syndrome Disease_Ontology DOID:14784 DOID:14784 olivopontocerebellar atrophy Disease_Ontology DOID:14789 DOID:14789 spondyloepiphyseal dysplasia congenita Disease_Ontology DOID:14791 DOID:14791 Leber congenital amaurosis Disease_Ontology DOID:14793 DOID:14793 hypohidrotic ectodermal dysplasia Disease_Ontology DOID:14796 DOID:14796 Dubowitz syndrome Disease_Ontology DOID:14798 DOID:14798 Blount's disease Disease_Ontology DOID:1483 DOID:1483 gingival disease Disease_Ontology DOID:1485 DOID:1485 cystic fibrosis Disease_Ontology DOID:1495 DOID:1495 cystic echinococcosis Disease_Ontology DOID:1496 DOID:1496 echinococcosis Disease_Ontology DOID:1498 DOID:1498 cholera Disease_Ontology DOID:15 DOID:15 reproductive system disease Disease_Ontology DOID:150 DOID:150 disease of mental health Disease_Ontology DOID:1508 DOID:1508 candidiasis Disease_Ontology DOID:1509 DOID:1509 avoidant personality disorder Disease_Ontology DOID:1510 DOID:1510 personality disorder Disease_Ontology DOID:1512 DOID:1512 chronic gonorrhea of cervix Disease_Ontology DOID:1513 DOID:1513 chronic cervicitis Disease_Ontology DOID:1517 DOID:1517 cecal benign neoplasm Disease_Ontology DOID:1518 DOID:1518 cecal disease Disease_Ontology DOID:1519 DOID:1519 cecum carcinoma Disease_Ontology DOID:1520 DOID:1520 colon carcinoma Disease_Ontology DOID:1521 DOID:1521 cecum cancer Disease_Ontology DOID:1522 DOID:1522 cecum lymphoma Disease_Ontology DOID:1523 DOID:1523 colon lymphoma Disease_Ontology DOID:1525 DOID:1525 nodular nonsuppurative panniculitis Disease_Ontology DOID:1526 DOID:1526 panniculitis Disease_Ontology DOID:1529 DOID:1529 penile disease Disease_Ontology DOID:1532 DOID:1532 pleural disease Disease_Ontology DOID:154 DOID:154 mixed cell type cancer Disease_Ontology DOID:1540 DOID:1540 parathyroid carcinoma Disease_Ontology DOID:1542 DOID:1542 head and neck carcinoma Disease_Ontology DOID:1554 DOID:1554 vibratory urticaria Disease_Ontology DOID:1555 DOID:1555 urticaria Disease_Ontology DOID:1556 DOID:1556 arthus reaction Disease_Ontology DOID:1557 DOID:1557 hypersensitivity reaction type III disease Disease_Ontology DOID:1558 DOID:1558 angioedema Disease_Ontology DOID:1561 DOID:1561 cognitive disorder Disease_Ontology DOID:1562 DOID:1562 chromoblastomycosis Disease_Ontology DOID:1563 DOID:1563 dermatomycosis Disease_Ontology DOID:1564 DOID:1564 fungal infectious disease Disease_Ontology DOID:1569 DOID:1569 mechanical ectropion Disease_Ontology DOID:1570 DOID:1570 ectropion Disease_Ontology DOID:1571 DOID:1571 spastic ectropion Disease_Ontology DOID:1572 DOID:1572 normal pressure hydrocephalus Disease_Ontology DOID:1573 DOID:1573 communicating hydrocephalus Disease_Ontology DOID:1574 DOID:1574 alcohol use disorder Disease_Ontology DOID:1575 DOID:1575 rheumatic disease Disease_Ontology DOID:1577 DOID:1577 limited scleroderma Disease_Ontology DOID:1578 DOID:1578 pulmonary systemic sclerosis Disease_Ontology DOID:1579 DOID:1579 respiratory system disease Disease_Ontology DOID:1580 DOID:1580 diffuse scleroderma Disease_Ontology DOID:1583 DOID:1583 laryngeal tuberculosis Disease_Ontology DOID:1584 DOID:1584 acute chest syndrome Disease_Ontology DOID:1586 DOID:1586 rheumatic fever Disease_Ontology DOID:1587 DOID:1587 thrombocytopenia due to platelet alloimmunization Disease_Ontology DOID:1588 DOID:1588 thrombocytopenia Disease_Ontology DOID:1591 DOID:1591 renovascular hypertension Disease_Ontology DOID:1595 DOID:1595 melancholic depression Disease_Ontology DOID:1596 DOID:1596 depressive disorder Disease_Ontology DOID:16 DOID:16 integumentary system disease Disease_Ontology DOID:1602 DOID:1602 lymphadenitis Disease_Ontology DOID:1607 DOID:1607 hypoglycemic coma Disease_Ontology DOID:161 DOID:161 keratosis Disease_Ontology DOID:1612 DOID:1612 breast cancer Disease_Ontology DOID:1614 DOID:1614 male breast cancer Disease_Ontology DOID:1616 DOID:1616 benign eccrine breast spiradenoma Disease_Ontology DOID:1618 DOID:1618 breast fibroadenoma Disease_Ontology DOID:162 DOID:162 cancer Disease_Ontology DOID:1623 DOID:1623 breast leiomyoma Disease_Ontology DOID:1625 DOID:1625 breast adenoma Disease_Ontology DOID:1626 DOID:1626 breast duct papilloma Disease_Ontology DOID:1627 DOID:1627 intraductal papilloma Disease_Ontology DOID:1628 DOID:1628 intraductal papillary breast neoplasm Disease_Ontology DOID:1629 DOID:1629 breast myofibroblastoma Disease_Ontology DOID:1631 DOID:1631 benign breast phyllodes tumor Disease_Ontology DOID:1637 DOID:1637 breast angiomatosis Disease_Ontology DOID:1638 DOID:1638 central nervous system tuberculosis Disease_Ontology DOID:1639 DOID:1639 skeletal tuberculosis Disease_Ontology DOID:1641 DOID:1641 benign breast adenomyoepithelioma Disease_Ontology DOID:1642 DOID:1642 breast adenomyoepithelioma Disease_Ontology DOID:1647 DOID:1647 female breast upper-inner quadrant cancer Disease_Ontology DOID:1649 DOID:1649 female breast lower-inner quadrant cancer Disease_Ontology DOID:1650 DOID:1650 female breast axillary tail cancer Disease_Ontology DOID:1657 DOID:1657 ventricular septal defect Disease_Ontology DOID:1659 DOID:1659 supratentorial cancer Disease_Ontology DOID:166 DOID:166 melanotic neuroectodermal tumor Disease_Ontology DOID:1660 DOID:1660 malignant pineal area germ cell neoplasm Disease_Ontology DOID:1664 DOID:1664 pineoblastoma Disease_Ontology DOID:1670 DOID:1670 Behcet's syndrome arthropathy Disease_Ontology DOID:1672 DOID:1672 spontaneous tension pneumothorax Disease_Ontology DOID:1673 DOID:1673 pneumothorax Disease_Ontology DOID:1677 DOID:1677 low implantation of placenta Disease_Ontology DOID:1678 DOID:1678 chronic interstitial cystitis Disease_Ontology DOID:1679 DOID:1679 cystitis Disease_Ontology DOID:1680 DOID:1680 chronic cystitis Disease_Ontology DOID:1681 DOID:1681 heart septal defect Disease_Ontology DOID:1682 DOID:1682 congenital heart disease Disease_Ontology DOID:1686 DOID:1686 glaucoma Disease_Ontology DOID:1687 DOID:1687 neovascular glaucoma Disease_Ontology DOID:169 DOID:169 neuroendocrine tumor Disease_Ontology DOID:1697 DOID:1697 ichthyosis Disease_Ontology DOID:17 DOID:17 musculoskeletal system disease Disease_Ontology DOID:170 DOID:170 endocrine gland cancer Disease_Ontology DOID:1700 DOID:1700 X-linked ichthyosis Disease_Ontology DOID:1701 DOID:1701 steroid inherited metabolic disorder Disease_Ontology DOID:1702 DOID:1702 ichthyosis vulgaris Disease_Ontology DOID:1703 DOID:1703 Richter's syndrome Disease_Ontology DOID:171 DOID:171 neuroectodermal tumor Disease_Ontology DOID:1712 DOID:1712 aortic valve stenosis Disease_Ontology DOID:1713 DOID:1713 benign shuddering attacks Disease_Ontology DOID:172 DOID:172 clear cell acanthoma Disease_Ontology DOID:1724 DOID:1724 duodenal ulcer Disease_Ontology DOID:1725 DOID:1725 peritoneum cancer Disease_Ontology DOID:1726 DOID:1726 partial of retinal vein occlusion Disease_Ontology DOID:1727 DOID:1727 retinal vein occlusion Disease_Ontology DOID:1729 DOID:1729 retinal vascular occlusion Disease_Ontology DOID:173 DOID:173 eccrine sweat gland neoplasm Disease_Ontology DOID:1731 DOID:1731 histoplasmosis Disease_Ontology DOID:1733 DOID:1733 cryptosporidiosis Disease_Ontology DOID:1737 DOID:1737 duodenal benign neoplasm Disease_Ontology DOID:1738 DOID:1738 small intestine leiomyoma Disease_Ontology DOID:174 DOID:174 acanthoma Disease_Ontology DOID:1742 DOID:1742 drug psychosis Disease_Ontology DOID:1748 DOID:1748 conjunctival squamous cell carcinoma Disease_Ontology DOID:1749 DOID:1749 squamous cell carcinoma Disease_Ontology DOID:175 DOID:175 vascular cancer Disease_Ontology DOID:1751 DOID:1751 malignant conjunctival melanoma Disease_Ontology DOID:1752 DOID:1752 ocular melanoma Disease_Ontology DOID:1754 DOID:1754 mitral valve stenosis Disease_Ontology DOID:1756 DOID:1756 facial nerve disease Disease_Ontology DOID:1757 DOID:1757 facial hemiatrophy Disease_Ontology DOID:1759 DOID:1759 American histoplasmosis Disease_Ontology DOID:176 DOID:176 cardiovascular cancer Disease_Ontology DOID:1760 DOID:1760 facial nerve neoplasm Disease_Ontology DOID:1761 DOID:1761 Melkersson-Rosenthal syndrome Disease_Ontology DOID:1762 DOID:1762 cheilitis Disease_Ontology DOID:1766 DOID:1766 factitious disorder Disease_Ontology DOID:1768 DOID:1768 conversion disorder Disease_Ontology DOID:1770 DOID:1770 toxic megacolon Disease_Ontology DOID:1776 DOID:1776 labyrinthine unilateral reactive loss Disease_Ontology DOID:1777 DOID:1777 unilateral hyperactive labyrinth Disease_Ontology DOID:178 DOID:178 vascular disease Disease_Ontology DOID:1781 DOID:1781 thyroid cancer Disease_Ontology DOID:1785 DOID:1785 pituitary cancer Disease_Ontology DOID:1786 DOID:1786 adrenal rest tumor Disease_Ontology DOID:1787 DOID:1787 pericarditis Disease_Ontology DOID:1788 DOID:1788 peritoneal mesothelioma Disease_Ontology DOID:1789 DOID:1789 benign peritoneal mesothelioma Disease_Ontology DOID:1790 DOID:1790 malignant mesothelioma Disease_Ontology DOID:1791 DOID:1791 peritoneal carcinoma Disease_Ontology DOID:1792 DOID:1792 pancreas lymphoma Disease_Ontology DOID:1793 DOID:1793 pancreatic cancer Disease_Ontology DOID:1795 DOID:1795 malignant exocrine pancreas neoplasm Disease_Ontology DOID:1796 DOID:1796 pancreas sarcoma Disease_Ontology DOID:1798 DOID:1798 pancreatic endocrine carcinoma Disease_Ontology DOID:1799 DOID:1799 islet cell tumor Disease_Ontology DOID:18 DOID:18 urinary system disease Disease_Ontology DOID:180 DOID:180 ossifying fibroma Disease_Ontology DOID:1800 DOID:1800 neuroendocrine carcinoma Disease_Ontology DOID:1802 DOID:1802 mononeuritis Disease_Ontology DOID:1803 DOID:1803 neuritis Disease_Ontology DOID:1811 DOID:1811 reflex sympathetic dystrophy Disease_Ontology DOID:182 DOID:182 calcinosis Disease_Ontology DOID:1822 DOID:1822 secondary lacrimal atrophy Disease_Ontology DOID:1824 DOID:1824 status epilepticus Disease_Ontology DOID:1825 DOID:1825 childhood absence epilepsy Disease_Ontology DOID:1826 DOID:1826 epilepsy Disease_Ontology DOID:1827 DOID:1827 generalized epilepsy Disease_Ontology DOID:1829 DOID:1829 urethral stricture Disease_Ontology DOID:1835 DOID:1835 mononeuritis multiplex Disease_Ontology DOID:1837 DOID:1837 diabetic ketoacidosis Disease_Ontology DOID:1838 DOID:1838 Menkes disease Disease_Ontology DOID:184 DOID:184 bone cancer Disease_Ontology DOID:1844 DOID:1844 mononeuritis of upper limb Disease_Ontology DOID:1849 DOID:1849 cannabis dependence Disease_Ontology DOID:1852 DOID:1852 intrahepatic cholestasis Disease_Ontology DOID:1856 DOID:1856 cherubism 1 Disease_Ontology DOID:1858 DOID:1858 McCune Albright syndrome Disease_Ontology DOID:1862 DOID:1862 jaw cancer Disease_Ontology DOID:1863 DOID:1863 skull cancer Disease_Ontology DOID:1866 DOID:1866 giant cell reparative granuloma Disease_Ontology DOID:1869 DOID:1869 chronic rheumatic pericarditis Disease_Ontology DOID:1875 DOID:1875 impotence Disease_Ontology DOID:1876 DOID:1876 sexual dysfunction Disease_Ontology DOID:1882 DOID:1882 atrial heart septal defect Disease_Ontology DOID:1883 DOID:1883 hepatitis C Disease_Ontology DOID:1884 DOID:1884 viral hepatitis Disease_Ontology DOID:1891 DOID:1891 optic nerve disease Disease_Ontology DOID:1893 DOID:1893 eczematous dermatitis of eyelid Disease_Ontology DOID:1894 DOID:1894 noninfectious dermatoses of eyelid Disease_Ontology DOID:1895 DOID:1895 allergic contact dermatitis of eyelid Disease_Ontology DOID:1896 DOID:1896 sigmoid neoplasm Disease_Ontology DOID:1897 DOID:1897 sigmoid disease Disease_Ontology DOID:1901 DOID:1901 vagina sarcoma Disease_Ontology DOID:1906 DOID:1906 malignant skin fibrous histiocytoma Disease_Ontology DOID:1907 DOID:1907 malignant fibrous histiocytoma Disease_Ontology DOID:1909 DOID:1909 melanoma Disease_Ontology DOID:1910 DOID:1910 vaginal yolk sac tumor Disease_Ontology DOID:1911 DOID:1911 endodermal sinus tumor Disease_Ontology DOID:1919 DOID:1919 Lesch-Nyhan syndrome Disease_Ontology DOID:192 DOID:192 sex cord-gonadal stromal tumor Disease_Ontology DOID:1920 DOID:1920 hyperuricemia Disease_Ontology DOID:1921 DOID:1921 Klinefelter syndrome Disease_Ontology DOID:1923 DOID:1923 disorder of sexual development Disease_Ontology DOID:1924 DOID:1924 hypogonadism Disease_Ontology DOID:1925 DOID:1925 Coffin-Siris syndrome Disease_Ontology DOID:1926 DOID:1926 Gaucher's disease Disease_Ontology DOID:1927 DOID:1927 sphingolipidosis Disease_Ontology DOID:1928 DOID:1928 Williams-Beuren syndrome Disease_Ontology DOID:1929 DOID:1929 supravalvular aortic stenosis Disease_Ontology DOID:193 DOID:193 reproductive organ cancer Disease_Ontology DOID:1930 DOID:1930 Laurence-Moon syndrome Disease_Ontology DOID:1931 DOID:1931 hypothalamic disease Disease_Ontology DOID:1932 DOID:1932 Angelman syndrome Disease_Ontology DOID:1933 DOID:1933 Rubinstein-Taybi syndrome Disease_Ontology DOID:1934 DOID:1934 dysostosis Disease_Ontology DOID:1935 DOID:1935 Bardet-Biedl syndrome Disease_Ontology DOID:1936 DOID:1936 atherosclerosis Disease_Ontology DOID:1942 DOID:1942 intermittent squint Disease_Ontology DOID:1943 DOID:1943 telogen effluvium Disease_Ontology DOID:1947 DOID:1947 trichomoniasis Disease_Ontology DOID:1949 DOID:1949 cholecystitis Disease_Ontology DOID:1962 DOID:1962 fallopian tube disease Disease_Ontology DOID:1963 DOID:1963 fallopian tube carcinoma Disease_Ontology DOID:1964 DOID:1964 fallopian tube cancer Disease_Ontology DOID:1965 DOID:1965 fallopian tube leiomyosarcoma Disease_Ontology DOID:1967 DOID:1967 leiomyosarcoma Disease_Ontology DOID:1969 DOID:1969 cerebral palsy Disease_Ontology DOID:1970 DOID:1970 fallopian tube carcinosarcoma Disease_Ontology DOID:1973 DOID:1973 fallopian tube adenosarcoma Disease_Ontology DOID:1974 DOID:1974 adenosarcoma Disease_Ontology DOID:1975 DOID:1975 thymus lipoma Disease_Ontology DOID:1979 DOID:1979 focal chorioretinitis Disease_Ontology DOID:1984 DOID:1984 rectal benign neoplasm Disease_Ontology DOID:1988 DOID:1988 rectum lymphoma Disease_Ontology DOID:1992 DOID:1992 rectum malignant melanoma Disease_Ontology DOID:1993 DOID:1993 rectum cancer Disease_Ontology DOID:1995 DOID:1995 rectum sarcoma Disease_Ontology DOID:1996 DOID:1996 rectum adenocarcinoma Disease_Ontology DOID:1998 DOID:1998 Lutembacher's syndrome Disease_Ontology DOID:1999 DOID:1999 chronic eustachian salpingitis Disease_Ontology DOID:200 DOID:200 benign giant cell tumor Disease_Ontology DOID:2000 DOID:2000 otosalpingitis Disease_Ontology DOID:2001 DOID:2001 neuroma Disease_Ontology DOID:2006 DOID:2006 preretinal fibrosis Disease_Ontology DOID:2007 DOID:2007 degeneration of macula and posterior pole Disease_Ontology DOID:201 DOID:201 connective tissue cancer Disease_Ontology DOID:2012 DOID:2012 Nezelof syndrome Disease_Ontology DOID:2018 DOID:2018 hyperinsulinism Disease_Ontology DOID:2021 DOID:2021 placenta cancer Disease_Ontology DOID:2024 DOID:2024 placental choriocarcinoma Disease_Ontology DOID:2025 DOID:2025 gestational choriocarcinoma Disease_Ontology DOID:203 DOID:203 exostosis Disease_Ontology DOID:2030 DOID:2030 anxiety disorder Disease_Ontology DOID:2033 DOID:2033 communication disorder Disease_Ontology DOID:2034 DOID:2034 encephalomalacia Disease_Ontology DOID:204 DOID:204 enthesopathy Disease_Ontology DOID:2043 DOID:2043 hepatitis B Disease_Ontology DOID:2044 DOID:2044 drug-induced hepatitis Disease_Ontology DOID:2047 DOID:2047 hepatitis D Disease_Ontology DOID:2048 DOID:2048 autoimmune hepatitis Disease_Ontology DOID:205 DOID:205 hyperostosis Disease_Ontology DOID:2050 DOID:2050 acute maxillary sinusitis Disease_Ontology DOID:2051 DOID:2051 maxillary sinusitis Disease_Ontology DOID:2053 DOID:2053 reactive cutaneous fibrous lesion Disease_Ontology DOID:2055 DOID:2055 post-traumatic stress disorder Disease_Ontology DOID:2058 DOID:2058 chronic mucocutaneous candidiasis Disease_Ontology DOID:2059 DOID:2059 vulvar disease Disease_Ontology DOID:206 DOID:206 hereditary multiple exostoses Disease_Ontology DOID:2060 DOID:2060 vulvar nodular hidradenoma Disease_Ontology DOID:2061 DOID:2061 nodular hidradenoma Disease_Ontology DOID:2064 DOID:2064 vulvar syringoma Disease_Ontology DOID:2065 DOID:2065 syringoma Disease_Ontology DOID:2066 DOID:2066 vulvar angiokeratoma Disease_Ontology DOID:2068 DOID:2068 Bartholin's gland benign neoplasm Disease_Ontology DOID:2071 DOID:2071 vulvar squamous papilloma Disease_Ontology DOID:2072 DOID:2072 vulvar squamous tumor Disease_Ontology DOID:2073 DOID:2073 perinatal intestinal perforation Disease_Ontology DOID:2074 DOID:2074 intestinal perforation Disease_Ontology DOID:2075 DOID:2075 minor vestibular glands adenoma Disease_Ontology DOID:2076 DOID:2076 vulvar glandular tumor Disease_Ontology DOID:2078 DOID:2078 chondroid syringoma of the vulva Disease_Ontology DOID:2079 DOID:2079 eccrine mixed tumor of skin Disease_Ontology DOID:2080 DOID:2080 vulvar trichoepithelioma Disease_Ontology DOID:2092 DOID:2092 transient arthritis Disease_Ontology DOID:2093 DOID:2093 vulvar melanoma Disease_Ontology DOID:2095 DOID:2095 sweat gland cancer Disease_Ontology DOID:2096 DOID:2096 vulvar sarcoma Disease_Ontology DOID:2097 DOID:2097 vulval Paget's disease Disease_Ontology DOID:2098 DOID:2098 vulva adenocarcinoma Disease_Ontology DOID:210 DOID:210 heel spur Disease_Ontology DOID:2101 DOID:2101 vulva squamous cell carcinoma Disease_Ontology DOID:2106 DOID:2106 myotonia congenita Disease_Ontology DOID:2112 DOID:2112 cystoisosporiasis Disease_Ontology DOID:2113 DOID:2113 coccidiosis Disease_Ontology DOID:2115 DOID:2115 B cell deficiency Disease_Ontology DOID:2120 DOID:2120 focal dermal hypoplasia Disease_Ontology DOID:2121 DOID:2121 ectodermal dysplasia Disease_Ontology DOID:2122 DOID:2122 pneumonic tularemia Disease_Ontology DOID:2123 DOID:2123 tularemia Disease_Ontology DOID:2127 DOID:2127 brain germinoma Disease_Ontology DOID:2129 DOID:2129 atypical teratoid rhabdoid tumor Disease_Ontology DOID:2132 DOID:2132 brain sarcoma Disease_Ontology DOID:2133 DOID:2133 central nervous system sarcoma Disease_Ontology DOID:2135 DOID:2135 temporal lobe neoplasm Disease_Ontology DOID:2139 DOID:2139 paraurethral gland neoplasm Disease_Ontology DOID:214 DOID:214 teeth hard tissue disease Disease_Ontology DOID:2140 DOID:2140 urethral urothelial papilloma Disease_Ontology DOID:2142 DOID:2142 urethra leiomyoma Disease_Ontology DOID:2143 DOID:2143 ovarian malignant mesothelioma Disease_Ontology DOID:2145 DOID:2145 malignant ovarian cyst Disease_Ontology DOID:2146 DOID:2146 ovary sarcoma Disease_Ontology DOID:2148 DOID:2148 tuberculous oophoritis Disease_Ontology DOID:2149 DOID:2149 urogenital tuberculosis Disease_Ontology DOID:2150 DOID:2150 ovarian lymphoma Disease_Ontology DOID:2151 DOID:2151 malignant ovarian surface epithelial-stromal neoplasm Disease_Ontology DOID:2152 DOID:2152 ovary epithelial cancer Disease_Ontology DOID:2153 DOID:2153 ovarian Wilms' cancer Disease_Ontology DOID:2154 DOID:2154 nephroblastoma Disease_Ontology DOID:2155 DOID:2155 malignant ovarian germ cell neoplasm Disease_Ontology DOID:2156 DOID:2156 ovarian germ cell cancer Disease_Ontology DOID:216 DOID:216 dental caries Disease_Ontology DOID:2163 DOID:2163 nasal cavity disease Disease_Ontology DOID:217 DOID:217 enamel caries Disease_Ontology DOID:2170 DOID:2170 vaginitis Disease_Ontology DOID:2173 DOID:2173 eyelid benign neoplasm Disease_Ontology DOID:2174 DOID:2174 ocular cancer Disease_Ontology DOID:2176 DOID:2176 carbuncle Disease_Ontology DOID:218 DOID:218 ascending colon cancer Disease_Ontology DOID:2181 DOID:2181 post-surgical hypoinsulinemia Disease_Ontology DOID:2187 DOID:2187 amelogenesis imperfecta Disease_Ontology DOID:219 DOID:219 colon cancer Disease_Ontology DOID:221 DOID:221 acute perichondritis of pinna Disease_Ontology DOID:2211 DOID:2211 factor XIII deficiency Disease_Ontology DOID:2213 DOID:2213 hemorrhagic disease Disease_Ontology DOID:2215 DOID:2215 factor VII deficiency Disease_Ontology DOID:2216 DOID:2216 factor V deficiency Disease_Ontology DOID:2217 DOID:2217 Bernard-Soulier syndrome Disease_Ontology DOID:2218 DOID:2218 blood platelet disease Disease_Ontology DOID:2219 DOID:2219 Glanzmann's thrombasthenia Disease_Ontology DOID:222 DOID:222 perichondritis of auricle Disease_Ontology DOID:2222 DOID:2222 factor X deficiency Disease_Ontology DOID:2223 DOID:2223 platelet storage pool deficiency Disease_Ontology DOID:2224 DOID:2224 essential thrombocythemia Disease_Ontology DOID:2226 DOID:2226 myeloproliferative neoplasm Disease_Ontology DOID:2228 DOID:2228 thrombocytosis Disease_Ontology DOID:2229 DOID:2229 factor XI deficiency Disease_Ontology DOID:223 DOID:223 basilar artery insufficiency Disease_Ontology DOID:2231 DOID:2231 factor XII deficiency Disease_Ontology DOID:2234 DOID:2234 focal epilepsy Disease_Ontology DOID:2235 DOID:2235 prothrombin deficiency Disease_Ontology DOID:2236 DOID:2236 congenital afibrinogenemia Disease_Ontology DOID:2237 DOID:2237 hepatitis Disease_Ontology DOID:2239 DOID:2239 granulomatous hepatitis Disease_Ontology DOID:224 DOID:224 transient cerebral ischemia Disease_Ontology DOID:2247 DOID:2247 spondylosis Disease_Ontology DOID:225 DOID:225 syndrome Disease_Ontology DOID:2251 DOID:2251 hypertrophic elongation of cervix Disease_Ontology DOID:2253 DOID:2253 cervix disease Disease_Ontology DOID:2256 DOID:2256 osteochondrodysplasia Disease_Ontology DOID:227 DOID:227 ankylosis Disease_Ontology DOID:2272 DOID:2272 vulvovaginal candidiasis Disease_Ontology DOID:2273 DOID:2273 vulvovaginitis Disease_Ontology DOID:2275 DOID:2275 pharyngitis Disease_Ontology DOID:2277 DOID:2277 gonadal disease Disease_Ontology DOID:2280 DOID:2280 hidradenitis suppurativa Disease_Ontology DOID:2282 DOID:2282 hidradenitis Disease_Ontology DOID:2283 DOID:2283 keratopathy Disease_Ontology DOID:2286 DOID:2286 capillary lymphangioma Disease_Ontology DOID:229 DOID:229 female reproductive system disease Disease_Ontology DOID:2297 DOID:2297 leptospirosis Disease_Ontology DOID:230 DOID:230 lateral sclerosis Disease_Ontology DOID:2300 DOID:2300 spondylolysis Disease_Ontology DOID:2301 DOID:2301 atrophy of prostate Disease_Ontology DOID:2303 DOID:2303 stereotypic movement disorder Disease_Ontology DOID:231 DOID:231 motor neuron disease Disease_Ontology DOID:2312 DOID:2312 nocardiosis Disease_Ontology DOID:2314 DOID:2314 malt worker's lung Disease_Ontology DOID:2316 DOID:2316 brain ischemia Disease_Ontology DOID:2320 DOID:2320 obstructive lung disease Disease_Ontology DOID:2326 DOID:2326 gastroenteritis Disease_Ontology DOID:2327 DOID:2327 viral gastritis Disease_Ontology DOID:2338 DOID:2338 mandibular cancer Disease_Ontology DOID:2339 DOID:2339 Crouzon syndrome Disease_Ontology DOID:234 DOID:234 colon adenocarcinoma Disease_Ontology DOID:2340 DOID:2340 craniosynostosis Disease_Ontology DOID:2344 DOID:2344 polyclonal hypergammaglobulinemia Disease_Ontology DOID:2345 DOID:2345 plasma protein metabolism disease Disease_Ontology DOID:2346 DOID:2346 monoclonal paraproteinemia Disease_Ontology DOID:2347 DOID:2347 generalized atherosclerosis Disease_Ontology DOID:2348 DOID:2348 arteriosclerotic cardiovascular disease Disease_Ontology DOID:2349 DOID:2349 arteriosclerosis Disease_Ontology DOID:235 DOID:235 colonic benign neoplasm Disease_Ontology DOID:2351 DOID:2351 iron metabolism disease Disease_Ontology DOID:2352 DOID:2352 hemochromatosis Disease_Ontology DOID:2354 DOID:2354 myelophthisic anemia Disease_Ontology DOID:2355 DOID:2355 anemia Disease_Ontology DOID:2361 DOID:2361 macrocytic anemia Disease_Ontology DOID:2364 DOID:2364 post-thrombotic syndrome Disease_Ontology DOID:2365 DOID:2365 West Nile encephalitis Disease_Ontology DOID:2366 DOID:2366 West Nile fever Disease_Ontology DOID:2367 DOID:2367 neuroaxonal dystrophy Disease_Ontology DOID:2368 DOID:2368 gangliosidosis Disease_Ontology DOID:2373 DOID:2373 hereditary elliptocytosis Disease_Ontology DOID:2377 DOID:2377 multiple sclerosis Disease_Ontology DOID:2378 DOID:2378 relapsing-remitting multiple sclerosis Disease_Ontology DOID:238 DOID:238 pupil disease Disease_Ontology DOID:2382 DOID:2382 kernicterus Disease_Ontology DOID:2383 DOID:2383 neonatal jaundice Disease_Ontology DOID:2384 DOID:2384 Wernicke encephalopathy Disease_Ontology DOID:2388 DOID:2388 renal artery disease Disease_Ontology DOID:2392 DOID:2392 glandular cystitis Disease_Ontology DOID:2394 DOID:2394 ovarian cancer Disease_Ontology DOID:240 DOID:240 iris disease Disease_Ontology DOID:2401 DOID:2401 clitoris cancer Disease_Ontology DOID:2409 DOID:2409 rhinosporidiosis Disease_Ontology DOID:2410 DOID:2410 skin granular cell tumor Disease_Ontology DOID:2411 DOID:2411 granular cell tumor Disease_Ontology DOID:2425 DOID:2425 cutaneous ganglioneuroma Disease_Ontology DOID:2426 DOID:2426 gangliocytoma Disease_Ontology DOID:2430 DOID:2430 skin glomus tumor Disease_Ontology DOID:2431 DOID:2431 glomus tumor Disease_Ontology DOID:2433 DOID:2433 epidermal appendage tumor Disease_Ontology DOID:2435 DOID:2435 skin glomangioma Disease_Ontology DOID:2436 DOID:2436 glomangioma Disease_Ontology DOID:2438 DOID:2438 dermis tumor Disease_Ontology DOID:2441 DOID:2441 frontal sinus squamous cell carcinoma Disease_Ontology DOID:2442 DOID:2442 paranasal sinus squamous cell carcinoma Disease_Ontology DOID:2444 DOID:2444 hyperpituitarism Disease_Ontology DOID:2449 DOID:2449 acromegaly Disease_Ontology DOID:2450 DOID:2450 central retinal vein occlusion Disease_Ontology DOID:2451 DOID:2451 protein S deficiency Disease_Ontology DOID:2452 DOID:2452 thrombophilia Disease_Ontology DOID:2455 DOID:2455 angular blepharoconjunctivitis Disease_Ontology DOID:2456 DOID:2456 blepharoconjunctivitis Disease_Ontology DOID:2457 DOID:2457 giant papillary conjunctivitis Disease_Ontology DOID:2458 DOID:2458 papillary conjunctivitis Disease_Ontology DOID:2460 DOID:2460 anterior dislocation of lens Disease_Ontology DOID:2462 DOID:2462 retinal vascular disease Disease_Ontology DOID:2468 DOID:2468 psychotic disorder Disease_Ontology DOID:2473 DOID:2473 opportunistic mycosis Disease_Ontology DOID:2474 DOID:2474 vernal conjunctivitis Disease_Ontology DOID:2475 DOID:2475 chronic conjunctivitis Disease_Ontology DOID:2476 DOID:2476 hereditary spastic paraplegia Disease_Ontology DOID:2477 DOID:2477 motor peripheral neuropathy Disease_Ontology DOID:2479 DOID:2479 central nervous system origin vertigo Disease_Ontology DOID:248 DOID:248 trachea leiomyoma Disease_Ontology DOID:2485 DOID:2485 phosphorus metabolism disease Disease_Ontology DOID:2490 DOID:2490 congenital nervous system abnormality Disease_Ontology DOID:2491 DOID:2491 sensory peripheral neuropathy Disease_Ontology DOID:2493 DOID:2493 gastric antral vascular ectasia Disease_Ontology DOID:2494 DOID:2494 angiodysplasia Disease_Ontology DOID:2495 DOID:2495 senile angioma Disease_Ontology DOID:2497 DOID:2497 enamel erosion Disease_Ontology DOID:2498 DOID:2498 tooth erosion Disease_Ontology DOID:2508 DOID:2508 Takayasu's arteritis Disease_Ontology DOID:251 DOID:251 alcohol-induced mental disorder Disease_Ontology DOID:2510 DOID:2510 Kluver-Bucy syndrome Disease_Ontology DOID:2512 DOID:2512 nevoid basal cell carcinoma syndrome Disease_Ontology DOID:2513 DOID:2513 basal cell carcinoma Disease_Ontology DOID:2516 DOID:2516 intracranial cavernous angioma Disease_Ontology DOID:2517 DOID:2517 intracranial structure hemangioma Disease_Ontology DOID:2518 DOID:2518 orchitis Disease_Ontology DOID:2519 DOID:2519 testicular disease Disease_Ontology DOID:252 DOID:252 alcoholic psychosis Disease_Ontology DOID:2526 DOID:2526 prostate adenocarcinoma Disease_Ontology DOID:2527 DOID:2527 nephrosis Disease_Ontology DOID:2529 DOID:2529 splenic disease Disease_Ontology DOID:2530 DOID:2530 splenic abscess Disease_Ontology DOID:2531 DOID:2531 hematologic cancer Disease_Ontology DOID:2533 DOID:2533 splenic infarction Disease_Ontology DOID:2536 DOID:2536 chronic inflammatory demyelinating polyneuritis Disease_Ontology DOID:2537 DOID:2537 inflammatory and toxic neuropathy Disease_Ontology DOID:2538 DOID:2538 Landau-Kleffner syndrome Disease_Ontology DOID:254 DOID:254 hemangioma of intra-abdominal structure Disease_Ontology DOID:2544 DOID:2544 extratemporal epilepsy Disease_Ontology DOID:2548 DOID:2548 reflex epilepsy Disease_Ontology DOID:255 DOID:255 hemangioma Disease_Ontology DOID:2550 DOID:2550 tactile epilepsy Disease_Ontology DOID:2555 DOID:2555 granulomatous angiitis Disease_Ontology DOID:2556 DOID:2556 relapsing polychondritis Disease_Ontology DOID:2557 DOID:2557 chondromalacia Disease_Ontology DOID:2559 DOID:2559 opiate dependence Disease_Ontology DOID:256 DOID:256 hemangioma of spleen Disease_Ontology DOID:2560 DOID:2560 morphine dependence Disease_Ontology DOID:2562 DOID:2562 suppurative periapical periodontitis Disease_Ontology DOID:2565 DOID:2565 macular corneal dystrophy Disease_Ontology DOID:2566 DOID:2566 corneal dystrophy Disease_Ontology DOID:2568 DOID:2568 cervicitis Disease_Ontology DOID:2569 DOID:2569 retinal drusen Disease_Ontology DOID:2570 DOID:2570 malignant histiocytic disease Disease_Ontology DOID:2571 DOID:2571 Langerhans-cell histiocytosis Disease_Ontology DOID:2575 DOID:2575 barbiturate dependence Disease_Ontology DOID:2580 DOID:2580 rhizomelic chondrodysplasia punctata Disease_Ontology DOID:2581 DOID:2581 chondrodysplasia punctata Disease_Ontology DOID:2582 DOID:2582 acatalasia Disease_Ontology DOID:2583 DOID:2583 agammaglobulinemia Disease_Ontology DOID:2590 DOID:2590 familial nephrotic syndrome Disease_Ontology DOID:2595 DOID:2595 glottis cancer Disease_Ontology DOID:2596 DOID:2596 larynx cancer Disease_Ontology DOID:2597 DOID:2597 glottis neoplasm Disease_Ontology DOID:2598 DOID:2598 laryngeal benign neoplasm Disease_Ontology DOID:2599 DOID:2599 glottis carcinoma Disease_Ontology DOID:26 DOID:26 pancreas disease Disease_Ontology DOID:260 DOID:260 hepatic flexure cancer Disease_Ontology DOID:2600 DOID:2600 laryngeal carcinoma Disease_Ontology DOID:2601 DOID:2601 juxtacortical chondroma Disease_Ontology DOID:2602 DOID:2602 chondroma Disease_Ontology DOID:2609 DOID:2609 adenomyoma Disease_Ontology DOID:261 DOID:261 transverse colon cancer Disease_Ontology DOID:2614 DOID:2614 serous surface papilloma Disease_Ontology DOID:2615 DOID:2615 papilloma Disease_Ontology DOID:2616 DOID:2616 Wolffian duct adenoma Disease_Ontology DOID:262 DOID:262 kidney hemangiopericytoma Disease_Ontology DOID:2621 DOID:2621 autonomic nervous system neoplasm Disease_Ontology DOID:2626 DOID:2626 choroid plexus papilloma Disease_Ontology DOID:263 DOID:263 kidney cancer Disease_Ontology DOID:2632 DOID:2632 papillary serous adenocarcinoma Disease_Ontology DOID:2634 DOID:2634 cystadenoma Disease_Ontology DOID:2636 DOID:2636 ovarian Brenner tumor Disease_Ontology DOID:2639 DOID:2639 breast pericanalicular fibroadenoma Disease_Ontology DOID:264 DOID:264 hemangiopericytoma Disease_Ontology DOID:2640 DOID:2640 struma ovarii Disease_Ontology DOID:2641 DOID:2641 ovarian germ cell monodermal and highly specialized teratoma Disease_Ontology DOID:2643 DOID:2643 perivascular epithelioid cell tumor Disease_Ontology DOID:2645 DOID:2645 benign mesothelioma Disease_Ontology DOID:2647 DOID:2647 parachordoma Disease_Ontology DOID:2648 DOID:2648 sebaceous adenoma Disease_Ontology DOID:2649 DOID:2649 chondroblastoma Disease_Ontology DOID:265 DOID:265 spleen angiosarcoma Disease_Ontology DOID:2653 DOID:2653 benign fibrous mesothelioma Disease_Ontology DOID:2656 DOID:2656 breast intracanalicular fibroadenoma Disease_Ontology DOID:2658 DOID:2658 dermoid cyst Disease_Ontology DOID:2660 DOID:2660 cystic teratoma Disease_Ontology DOID:2661 DOID:2661 myoepithelioma Disease_Ontology DOID:2664 DOID:2664 sweat gland benign neoplasm Disease_Ontology DOID:2668 DOID:2668 mesenchymoma Disease_Ontology DOID:2669 DOID:2669 Pacinian tumor Disease_Ontology DOID:2670 DOID:2670 transitional papilloma Disease_Ontology DOID:2671 DOID:2671 transitional cell carcinoma Disease_Ontology DOID:2673 DOID:2673 adult cystic nephroma Disease_Ontology DOID:2679 DOID:2679 dysembryoplastic neuroepithelial tumor Disease_Ontology DOID:268 DOID:268 liver angiosarcoma Disease_Ontology DOID:2682 DOID:2682 intracystic papillary adenoma Disease_Ontology DOID:2683 DOID:2683 adenofibroma Disease_Ontology DOID:2685 DOID:2685 ossifying fibromyxoid tumor Disease_Ontology DOID:2687 DOID:2687 skin sarcoma Disease_Ontology DOID:2689 DOID:2689 lymphangiosarcoma Disease_Ontology DOID:2691 DOID:2691 myoma Disease_Ontology DOID:2696 DOID:2696 Leydig cell tumor Disease_Ontology DOID:2697 DOID:2697 renal adenoma Disease_Ontology DOID:2698 DOID:2698 nephrogenic adenofibroma Disease_Ontology DOID:270 DOID:270 liver sarcoma Disease_Ontology DOID:2700 DOID:2700 mucinous adenofibroma Disease_Ontology DOID:2701 DOID:2701 nodular tenosynovitis Disease_Ontology DOID:2702 DOID:2702 pigmented villonodular synovitis Disease_Ontology DOID:2703 DOID:2703 synovitis Disease_Ontology DOID:2704 DOID:2704 malignant giant cell tumor of the tendon sheath Disease_Ontology DOID:2705 DOID:2705 malignant giant cell tumor Disease_Ontology DOID:2706 DOID:2706 synovium cancer Disease_Ontology DOID:2708 DOID:2708 mushroom workers' lung Disease_Ontology DOID:271 DOID:271 hemangioma of liver Disease_Ontology DOID:2710 DOID:2710 sick building syndrome Disease_Ontology DOID:2712 DOID:2712 phimosis Disease_Ontology DOID:2717 DOID:2717 Bloom syndrome Disease_Ontology DOID:2718 DOID:2718 hemopneumothorax Disease_Ontology DOID:272 DOID:272 hepatic vascular disease Disease_Ontology DOID:2722 DOID:2722 acrodermatitis Disease_Ontology DOID:2723 DOID:2723 dermatitis Disease_Ontology DOID:2725 DOID:2725 capillary hemangioma Disease_Ontology DOID:2729 DOID:2729 dyskeratosis congenita Disease_Ontology DOID:2730 DOID:2730 epidermolysis bullosa Disease_Ontology DOID:2731 DOID:2731 vesiculobullous skin disease Disease_Ontology DOID:2732 DOID:2732 Rothmund-Thomson syndrome Disease_Ontology DOID:2733 DOID:2733 skin atrophy Disease_Ontology DOID:2734 DOID:2734 keratosis follicularis Disease_Ontology DOID:2736 DOID:2736 Hajdu-Cheney syndrome Disease_Ontology DOID:2738 DOID:2738 pseudoxanthoma elasticum Disease_Ontology DOID:2739 DOID:2739 Gilbert syndrome Disease_Ontology DOID:2741 DOID:2741 bilirubin metabolic disorder Disease_Ontology DOID:2742 DOID:2742 auditory system disease Disease_Ontology DOID:2743 DOID:2743 pyeloureteritis cystica Disease_Ontology DOID:2744 DOID:2744 pyelitis Disease_Ontology DOID:2745 DOID:2745 narcissistic personality disorder Disease_Ontology DOID:2746 DOID:2746 glycogen storage disease V Disease_Ontology DOID:2747 DOID:2747 glycogen storage disease Disease_Ontology DOID:2748 DOID:2748 glycogen storage disease III Disease_Ontology DOID:2749 DOID:2749 glycogen storage disease Ia Disease_Ontology DOID:275 DOID:275 gastric hemangioma Disease_Ontology DOID:2750 DOID:2750 glycogen storage disease IV Disease_Ontology DOID:2751 DOID:2751 glycogen storage disease VIII Disease_Ontology DOID:2752 DOID:2752 glycogen storage disease II Disease_Ontology DOID:2754 DOID:2754 glycogen storage disease VI Disease_Ontology DOID:2755 DOID:2755 Mycobacterium avium complex disease Disease_Ontology DOID:2762 DOID:2762 bone carcinoma Disease_Ontology DOID:2763 DOID:2763 ethmoid sinus squamous cell carcinoma Disease_Ontology DOID:2764 DOID:2764 ethmoid sinus adenoid cystic carcinoma Disease_Ontology DOID:2766 DOID:2766 ethmoid sinus adenocarcinoma Disease_Ontology DOID:2768 DOID:2768 transient tic disorder Disease_Ontology DOID:2769 DOID:2769 tic disorder Disease_Ontology DOID:277 DOID:277 chorioangioma Disease_Ontology DOID:2772 DOID:2772 irritant dermatitis Disease_Ontology DOID:2773 DOID:2773 contact dermatitis Disease_Ontology DOID:2775 DOID:2775 long bone adamantinoma Disease_Ontology DOID:2776 DOID:2776 adamantinoma Disease_Ontology DOID:2780 DOID:2780 rectosigmoid junction neoplasm Disease_Ontology DOID:2781 DOID:2781 rectosigmoid cancer Disease_Ontology DOID:2782 DOID:2782 rectosigmoid junction cancer Disease_Ontology DOID:2784 DOID:2784 lung sarcoma Disease_Ontology DOID:2785 DOID:2785 Dandy-Walker syndrome Disease_Ontology DOID:2786 DOID:2786 cerebellar disease Disease_Ontology DOID:2789 DOID:2789 parasitic protozoa infectious disease Disease_Ontology DOID:2790 DOID:2790 necatoriasis Disease_Ontology DOID:2797 DOID:2797 idiopathic interstitial pneumonia Disease_Ontology DOID:2799 DOID:2799 bronchiolitis obliterans Disease_Ontology DOID:28 DOID:28 endocrine system disease Disease_Ontology DOID:2800 DOID:2800 acute interstitial pneumonia Disease_Ontology DOID:2801 DOID:2801 nonspecific interstitial pneumonia Disease_Ontology DOID:2810 DOID:2810 middle lobe syndrome Disease_Ontology DOID:2814 DOID:2814 malignant neoplasm of acoustic nerve Disease_Ontology DOID:2815 DOID:2815 cranial nerve malignant neoplasm Disease_Ontology DOID:2816 DOID:2816 malignant oculomotor nerve tumor Disease_Ontology DOID:2817 DOID:2817 cranial nerve III tumor Disease_Ontology DOID:2825 DOID:2825 nose disease Disease_Ontology DOID:2828 DOID:2828 acalculous cholecystitis Disease_Ontology DOID:2832 DOID:2832 geotrichosis Disease_Ontology DOID:2833 DOID:2833 dehydration polycythemia Disease_Ontology DOID:2834 DOID:2834 acquired polycythemia Disease_Ontology DOID:2835 DOID:2835 polycythemia due to hypoxia Disease_Ontology DOID:2838 DOID:2838 stress polycythemia Disease_Ontology DOID:2839 DOID:2839 erythropoietin polycythemia Disease_Ontology DOID:2841 DOID:2841 asthma Disease_Ontology DOID:2842 DOID:2842 Jervell-Lange Nielsen syndrome Disease_Ontology DOID:2843 DOID:2843 long QT syndrome Disease_Ontology DOID:2846 DOID:2846 bruxism Disease_Ontology DOID:285 DOID:285 hairy cell leukemia Disease_Ontology DOID:2855 DOID:2855 hyperthyroxinemia Disease_Ontology DOID:2856 DOID:2856 euthyroid sick syndrome Disease_Ontology DOID:2859 DOID:2859 hemoglobin C disease Disease_Ontology DOID:2860 DOID:2860 hemoglobinopathy Disease_Ontology DOID:2861 DOID:2861 congenital nonspherocytic hemolytic anemia Disease_Ontology DOID:2862 DOID:2862 glucosephosphate dehydrogenase deficiency Disease_Ontology DOID:2870 DOID:2870 endometrial adenocarcinoma Disease_Ontology DOID:2871 DOID:2871 endometrial carcinoma Disease_Ontology DOID:2876 DOID:2876 laryngeal squamous cell carcinoma Disease_Ontology DOID:2877 DOID:2877 larynx sarcoma Disease_Ontology DOID:2879 DOID:2879 nodular degeneration of cornea Disease_Ontology DOID:288 DOID:288 endometriosis of uterus Disease_Ontology DOID:2883 DOID:2883 prostatic adenoma Disease_Ontology DOID:2885 DOID:2885 benign prostate phyllodes tumor Disease_Ontology DOID:2887 DOID:2887 prostate leiomyoma Disease_Ontology DOID:2889 DOID:2889 retrocochlear disease Disease_Ontology DOID:289 DOID:289 endometriosis Disease_Ontology DOID:2891 DOID:2891 thyroid adenoma Disease_Ontology DOID:2892 DOID:2892 exocervical carcinoma Disease_Ontology DOID:2893 DOID:2893 cervix carcinoma Disease_Ontology DOID:2907 DOID:2907 Goldenhar syndrome Disease_Ontology DOID:2908 DOID:2908 Treacher Collins syndrome Disease_Ontology DOID:2913 DOID:2913 acute pancreatitis Disease_Ontology DOID:2914 DOID:2914 immune system disease Disease_Ontology DOID:2916 DOID:2916 hypersensitivity reaction type IV disease Disease_Ontology DOID:2917 DOID:2917 cryoglobulinemia Disease_Ontology DOID:292 DOID:292 lacrimal system cancer Disease_Ontology DOID:2920 DOID:2920 membranoproliferative glomerulonephritis Disease_Ontology DOID:2921 DOID:2921 glomerulonephritis Disease_Ontology DOID:2926 DOID:2926 Klippel-Trenaunay syndrome Disease_Ontology DOID:2929 DOID:2929 Newcastle disease Disease_Ontology DOID:293 DOID:293 lacrimal gland carcinoma Disease_Ontology DOID:2934 DOID:2934 aleutian mink disease Disease_Ontology DOID:2935 DOID:2935 Chediak-Higashi syndrome Disease_Ontology DOID:2938 DOID:2938 Epstein-Barr virus infectious disease Disease_Ontology DOID:294 DOID:294 lacrimal gland cancer Disease_Ontology DOID:2942 DOID:2942 bronchiolitis Disease_Ontology DOID:2945 DOID:2945 severe acute respiratory syndrome Disease_Ontology DOID:295 DOID:295 eye carcinoma Disease_Ontology DOID:2951 DOID:2951 motion sickness Disease_Ontology DOID:2952 DOID:2952 inner ear disease Disease_Ontology DOID:2957 DOID:2957 pulmonary tuberculosis Disease_Ontology DOID:2959 DOID:2959 hyperimmunoglobulin syndrome Disease_Ontology DOID:296 DOID:296 mixed lacrimal gland cancer Disease_Ontology DOID:2960 DOID:2960 photosensitive trichothiodystrophy Disease_Ontology DOID:2962 DOID:2962 Cockayne syndrome Disease_Ontology DOID:2964 DOID:2964 periarthritis Disease_Ontology DOID:2965 DOID:2965 bursitis Disease_Ontology DOID:297 DOID:297 pleomorphic adenoma carcinoma Disease_Ontology DOID:2972 DOID:2972 renal artery obstruction Disease_Ontology DOID:2973 DOID:2973 kidney cortex necrosis Disease_Ontology DOID:2975 DOID:2975 cystic kidney disease Disease_Ontology DOID:2977 DOID:2977 primary hyperoxaluria Disease_Ontology DOID:2978 DOID:2978 carbohydrate metabolic disorder Disease_Ontology DOID:298 DOID:298 lacrimal gland adenocarcinoma Disease_Ontology DOID:2981 DOID:2981 kidney papillary necrosis Disease_Ontology DOID:2982 DOID:2982 perinephritis Disease_Ontology DOID:2983 DOID:2983 anuria Disease_Ontology DOID:2986 DOID:2986 IgA glomerulonephritis Disease_Ontology DOID:2987 DOID:2987 familial Mediterranean fever Disease_Ontology DOID:2988 DOID:2988 antiphospholipid syndrome Disease_Ontology DOID:299 DOID:299 adenocarcinoma Disease_Ontology DOID:2992 DOID:2992 prostate neuroendocrine neoplasm Disease_Ontology DOID:2994 DOID:2994 germ cell cancer Disease_Ontology DOID:2996 DOID:2996 mixed germ cell-sex cord neoplasm Disease_Ontology DOID:2997 DOID:2997 Sertoli-Leydig cell tumor Disease_Ontology DOID:2998 DOID:2998 testicular cancer Disease_Ontology DOID:2999 DOID:2999 granulosa cell tumor Disease_Ontology DOID:3001 DOID:3001 female reproductive endometrioid cancer Disease_Ontology DOID:3002 DOID:3002 ovary neuroendocrine neoplasm Disease_Ontology DOID:3003 DOID:3003 nipple benign neoplasm Disease_Ontology DOID:3004 DOID:3004 breast myoepithelial neoplasm Disease_Ontology DOID:3007 DOID:3007 breast ductal carcinoma Disease_Ontology DOID:3008 DOID:3008 invasive ductal carcinoma Disease_Ontology DOID:3009 DOID:3009 breast neuroendocrine neoplasm Disease_Ontology DOID:3010 DOID:3010 lobular neoplasia Disease_Ontology DOID:3011 DOID:3011 breast granular cell tumor Disease_Ontology DOID:3012 DOID:3012 Li-Fraumeni syndrome Disease_Ontology DOID:3013 DOID:3013 intraductal breast benign neoplasm Disease_Ontology DOID:3016 DOID:3016 breast malignant phyllodes tumor Disease_Ontology DOID:3017 DOID:3017 breast sarcoma Disease_Ontology DOID:302 DOID:302 substance abuse Disease_Ontology DOID:3021 DOID:3021 acute kidney failure Disease_Ontology DOID:3024 DOID:3024 prostatic acinar adenocarcinoma Disease_Ontology DOID:3025 DOID:3025 acinar cell carcinoma Disease_Ontology DOID:3029 DOID:3029 colon mucinous adenocarcinoma Disease_Ontology DOID:303 DOID:303 substance-related disorder Disease_Ontology DOID:3030 DOID:3030 mucinous adenocarcinoma Disease_Ontology DOID:3033 DOID:3033 colon signet ring adenocarcinoma Disease_Ontology DOID:3038 DOID:3038 submucosal invasive colon adenocarcinoma Disease_Ontology DOID:3039 DOID:3039 cecum adenocarcinoma Disease_Ontology DOID:3042 DOID:3042 allergic contact dermatitis Disease_Ontology DOID:3044 DOID:3044 food allergy Disease_Ontology DOID:3047 DOID:3047 Wissler-Fanconi syndrome Disease_Ontology DOID:3049 DOID:3049 Churg-Strauss syndrome Disease_Ontology DOID:305 DOID:305 carcinoma Disease_Ontology DOID:3052 DOID:3052 Balkan nephropathy Disease_Ontology DOID:3055 DOID:3055 paratyphoid fever Disease_Ontology DOID:3068 DOID:3068 glioblastoma Disease_Ontology DOID:3069 DOID:3069 malignant astrocytoma Disease_Ontology DOID:3070 DOID:3070 high grade glioma Disease_Ontology DOID:3071 DOID:3071 gliosarcoma Disease_Ontology DOID:3073 DOID:3073 brain glioblastoma multiforme Disease_Ontology DOID:3074 DOID:3074 giant cell glioblastoma Disease_Ontology DOID:3076 DOID:3076 adult astrocytic tumor Disease_Ontology DOID:3078 DOID:3078 anaplastic astrocytoma Disease_Ontology DOID:3079 DOID:3079 childhood astrocytic tumor Disease_Ontology DOID:308 DOID:308 early myoclonic encephalopathy Disease_Ontology DOID:3081 DOID:3081 cystic lymphangioma Disease_Ontology DOID:3082 DOID:3082 interstitial lung disease Disease_Ontology DOID:3083 DOID:3083 chronic obstructive pulmonary disease Disease_Ontology DOID:3086 DOID:3086 gingival overgrowth Disease_Ontology DOID:3087 DOID:3087 gingivitis Disease_Ontology DOID:3089 DOID:3089 granulomatous orchitis Disease_Ontology DOID:3091 DOID:3091 Acinetobacter infectious disease Disease_Ontology DOID:3093 DOID:3093 nervous system cancer Disease_Ontology DOID:3095 DOID:3095 germ cell and embryonal cancer Disease_Ontology DOID:3096 DOID:3096 stenosis of lacrimal sac Disease_Ontology DOID:3098 DOID:3098 small cell sarcoma Disease_Ontology DOID:310 DOID:310 MERRF syndrome Disease_Ontology DOID:3103 DOID:3103 thoracic outlet syndrome Disease_Ontology DOID:3107 DOID:3107 toxascariasis Disease_Ontology DOID:3108 DOID:3108 ascaridiasis Disease_Ontology DOID:3109 DOID:3109 idiopathic CD4-positive T-lymphocytopenia Disease_Ontology DOID:3110 DOID:3110 papillary cystadenocarcinoma Disease_Ontology DOID:3111 DOID:3111 cystadenocarcinoma Disease_Ontology DOID:3112 DOID:3112 papillary adenocarcinoma Disease_Ontology DOID:3113 DOID:3113 papillary carcinoma Disease_Ontology DOID:3114 DOID:3114 serous cystadenocarcinoma Disease_Ontology DOID:3116 DOID:3116 kidney benign neoplasm Disease_Ontology DOID:3117 DOID:3117 hepatobiliary benign neoplasm Disease_Ontology DOID:3118 DOID:3118 hepatobiliary disease Disease_Ontology DOID:3119 DOID:3119 gastrointestinal system cancer Disease_Ontology DOID:312 DOID:312 tenosynovitis of foot and ankle Disease_Ontology DOID:3120 DOID:3120 gallbladder papillomatosis Disease_Ontology DOID:3121 DOID:3121 gallbladder cancer Disease_Ontology DOID:3122 DOID:3122 gastric outlet obstruction Disease_Ontology DOID:3125 DOID:3125 multiple endocrine neoplasia Disease_Ontology DOID:3127 DOID:3127 proctitis Disease_Ontology DOID:3128 DOID:3128 anus disease Disease_Ontology DOID:3132 DOID:3132 porphyria cutanea tarda Disease_Ontology DOID:3133 DOID:3133 acute porphyria Disease_Ontology DOID:3134 DOID:3134 facial dermatosis Disease_Ontology DOID:3136 DOID:3136 scalp dermatosis Disease_Ontology DOID:3138 DOID:3138 acanthosis nigricans Disease_Ontology DOID:314 DOID:314 tenosynovial giant cell tumor Disease_Ontology DOID:3140 DOID:3140 scleredema adultorum Disease_Ontology DOID:3141 DOID:3141 mucinoses Disease_Ontology DOID:3142 DOID:3142 leg dermatosis Disease_Ontology DOID:3144 DOID:3144 cutis laxa Disease_Ontology DOID:3145 DOID:3145 hyperlipoproteinemia type III Disease_Ontology DOID:3146 DOID:3146 lipid metabolism disorder Disease_Ontology DOID:3148 DOID:3148 dermal unilateral segmental cavernous angioma Disease_Ontology DOID:3149 DOID:3149 keratoacanthoma Disease_Ontology DOID:315 DOID:315 synovium neoplasm Disease_Ontology DOID:3151 DOID:3151 skin squamous cell carcinoma Disease_Ontology DOID:3153 DOID:3153 lipomatosis Disease_Ontology DOID:3156 DOID:3156 hypomelanosis of Ito Disease_Ontology DOID:3158 DOID:3158 hand dermatosis Disease_Ontology DOID:3159 DOID:3159 photosensitivity disease Disease_Ontology DOID:3162 DOID:3162 malignant spindle cell melanoma Disease_Ontology DOID:3165 DOID:3165 skin benign neoplasm Disease_Ontology DOID:3168 DOID:3168 squamous cell neoplasm Disease_Ontology DOID:3172 DOID:3172 papillary adenoma Disease_Ontology DOID:3173 DOID:3173 fallopian tube serous papilloma Disease_Ontology DOID:3177 DOID:3177 verrucous papilloma Disease_Ontology DOID:3178 DOID:3178 skin papilloma Disease_Ontology DOID:3179 DOID:3179 inverted papilloma Disease_Ontology DOID:318 DOID:318 progressive muscular atrophy Disease_Ontology DOID:3181 DOID:3181 oligodendroglioma Disease_Ontology DOID:3183 DOID:3183 childhood oligodendroglioma Disease_Ontology DOID:3184 DOID:3184 spinal cord oligodendroglioma Disease_Ontology DOID:3185 DOID:3185 spinal cord glioma Disease_Ontology DOID:3186 DOID:3186 adult oligodendroglioma Disease_Ontology DOID:3187 DOID:3187 brain oligodendroglioma Disease_Ontology DOID:319 DOID:319 spinal cord disease Disease_Ontology DOID:3191 DOID:3191 nemaline myopathy Disease_Ontology DOID:3192 DOID:3192 neurilemmoma Disease_Ontology DOID:3193 DOID:3193 peripheral nerve sheath neoplasm Disease_Ontology DOID:3196 DOID:3196 cellular schwannoma Disease_Ontology DOID:3197 DOID:3197 schwannoma of twelfth cranial nerve Disease_Ontology DOID:3198 DOID:3198 hypoglossal nerve neoplasm Disease_Ontology DOID:3199 DOID:3199 C-P angle neurinoma Disease_Ontology DOID:320 DOID:320 vascular myelopathy Disease_Ontology DOID:3200 DOID:3200 cerebellopontine angle tumor Disease_Ontology DOID:3201 DOID:3201 sympathetic neurilemmoma Disease_Ontology DOID:3202 DOID:3202 neurilemmoma of the fifth cranial nerve Disease_Ontology DOID:3203 DOID:3203 macrocystic neurilemmoma Disease_Ontology DOID:3204 DOID:3204 schwannomatosis Disease_Ontology DOID:3205 DOID:3205 melanotic neurilemmoma Disease_Ontology DOID:3206 DOID:3206 plexiform schwannoma Disease_Ontology DOID:3209 DOID:3209 junctional epidermolysis bullosa Disease_Ontology DOID:321 DOID:321 HTLV-1-associated myelopathy/tropical spastic paraparesis Disease_Ontology DOID:3210 DOID:3210 Pelizaeus-Merzbacher disease Disease_Ontology DOID:3211 DOID:3211 lysosomal storage disease Disease_Ontology DOID:3213 DOID:3213 demyelinating disease Disease_Ontology DOID:3216 DOID:3216 jejunal somatostatinoma Disease_Ontology DOID:3218 DOID:3218 jejunal neoplasm Disease_Ontology DOID:322 DOID:322 myelitis Disease_Ontology DOID:3222 DOID:3222 causalgia Disease_Ontology DOID:3223 DOID:3223 complex regional pain syndrome Disease_Ontology DOID:3225 DOID:3225 tracheal disease Disease_Ontology DOID:3227 DOID:3227 tracheal stenosis Disease_Ontology DOID:3229 DOID:3229 gastric dilatation Disease_Ontology DOID:3230 DOID:3230 high pressure neurological syndrome Disease_Ontology DOID:3234 DOID:3234 central nervous system lymphoma Disease_Ontology DOID:3240 DOID:3240 aspiration pneumonitis Disease_Ontology DOID:3241 DOID:3241 lipid pneumonia Disease_Ontology DOID:3246 DOID:3246 embryonal rhabdomyosarcoma Disease_Ontology DOID:3247 DOID:3247 rhabdomyosarcoma Disease_Ontology DOID:3250 DOID:3250 pleomorphic rhabdomyosarcoma Disease_Ontology DOID:3251 DOID:3251 prostate embryonal rhabdomyosarcoma Disease_Ontology DOID:3252 DOID:3252 prostate rhabdomyosarcoma Disease_Ontology DOID:3253 DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma Disease_Ontology DOID:3254 DOID:3254 bile duct rhabdomyosarcoma Disease_Ontology DOID:3255 DOID:3255 botryoid rhabdomyosarcoma Disease_Ontology DOID:3258 DOID:3258 orbit embryonal rhabdomyosarcoma Disease_Ontology DOID:3259 DOID:3259 orbit rhabdomyosarcoma Disease_Ontology DOID:326 DOID:326 ischemia Disease_Ontology DOID:3260 DOID:3260 spindle cell rhabdomyosarcoma Disease_Ontology DOID:3261 DOID:3261 autosomal dominant hyper-IgE syndrome 1 with recurrent infections Disease_Ontology DOID:3262 DOID:3262 phagocyte bactericidal dysfunction Disease_Ontology DOID:3263 DOID:3263 piebaldism Disease_Ontology DOID:3264 DOID:3264 subacute leukemia Disease_Ontology DOID:3265 DOID:3265 chronic granulomatous disease Disease_Ontology DOID:3267 DOID:3267 mucinous ovarian cystadenoma Disease_Ontology DOID:3269 DOID:3269 ovarian cystadenoma Disease_Ontology DOID:327 DOID:327 syringomyelia Disease_Ontology DOID:3274 DOID:3274 proliferative type fibrocystic change of breast Disease_Ontology DOID:3275 DOID:3275 thymoma Disease_Ontology DOID:3277 DOID:3277 thymus cancer Disease_Ontology DOID:3278 DOID:3278 encapsulated thymoma Disease_Ontology DOID:3279 DOID:3279 spindle cell thymoma Disease_Ontology DOID:3280 DOID:3280 mixed type thymoma Disease_Ontology DOID:3281 DOID:3281 combined thymoma Disease_Ontology DOID:3282 DOID:3282 thymoma type B Disease_Ontology DOID:3283 DOID:3283 invasive malignant thymoma Disease_Ontology DOID:3284 DOID:3284 thymic carcinoma Disease_Ontology DOID:3292 DOID:3292 mpox Disease_Ontology DOID:3298 DOID:3298 vaccinia Disease_Ontology DOID:3301 DOID:3301 gonadoblastoma Disease_Ontology DOID:3302 DOID:3302 chordoma Disease_Ontology DOID:3303 DOID:3303 notochordal cancer Disease_Ontology DOID:3304 DOID:3304 germinoma Disease_Ontology DOID:3305 DOID:3305 teratocarcinoma Disease_Ontology DOID:3306 DOID:3306 mixed germ cell cancer Disease_Ontology DOID:3307 DOID:3307 teratoma Disease_Ontology DOID:3308 DOID:3308 embryonal carcinoma Disease_Ontology DOID:3309 DOID:3309 neurodermatitis Disease_Ontology DOID:331 DOID:331 central nervous system disease Disease_Ontology DOID:3310 DOID:3310 atopic dermatitis Disease_Ontology DOID:3312 DOID:3312 bipolar disorder Disease_Ontology DOID:3314 DOID:3314 angiomyolipoma Disease_Ontology DOID:3315 DOID:3315 lipoma Disease_Ontology DOID:3316 DOID:3316 perivascular tumor Disease_Ontology DOID:3317 DOID:3317 hepatic angiomyolipoma Disease_Ontology DOID:3318 DOID:3318 epithelioid type angiomyolipoma Disease_Ontology DOID:3319 DOID:3319 lymphangioleiomyomatosis Disease_Ontology DOID:332 DOID:332 amyotrophic lateral sclerosis Disease_Ontology DOID:3320 DOID:3320 Tay-Sachs disease Disease_Ontology DOID:3321 DOID:3321 GM2 gangliosidosis Disease_Ontology DOID:3322 DOID:3322 GM1 gangliosidosis Disease_Ontology DOID:3323 DOID:3323 Sandhoff disease Disease_Ontology DOID:3324 DOID:3324 mood disorder Disease_Ontology DOID:3325 DOID:3325 hyperglobulinemic purpura Disease_Ontology DOID:3326 DOID:3326 purpura Disease_Ontology DOID:3327 DOID:3327 partial motor epilepsy Disease_Ontology DOID:3328 DOID:3328 temporal lobe epilepsy Disease_Ontology DOID:3329 DOID:3329 benign epilepsy with centrotemporal spikes Disease_Ontology DOID:3330 DOID:3330 partial sensory epilepsy Disease_Ontology DOID:3331 DOID:3331 frontal lobe epilepsy Disease_Ontology DOID:3332 DOID:3332 haemonchiasis Disease_Ontology DOID:334 DOID:334 histrionic personality disorder Disease_Ontology DOID:3341 DOID:3341 osteitis fibrosa Disease_Ontology DOID:3342 DOID:3342 bone inflammation disease Disease_Ontology DOID:3343 DOID:3343 glycoproteinosis Disease_Ontology DOID:3345 DOID:3345 xanthomatosis Disease_Ontology DOID:3347 DOID:3347 osteosarcoma Disease_Ontology DOID:3350 DOID:3350 mesenchymal cell neoplasm Disease_Ontology DOID:3351 DOID:3351 bone angioendothelial sarcoma Disease_Ontology DOID:3352 DOID:3352 malignant fibrous histiocytoma of bone Disease_Ontology DOID:3354 DOID:3354 fibrosarcoma of bone Disease_Ontology DOID:3355 DOID:3355 fibrosarcoma Disease_Ontology DOID:3356 DOID:3356 localized osteosarcoma Disease_Ontology DOID:3357 DOID:3357 extraosseous osteosarcoma Disease_Ontology DOID:3360 DOID:3360 multifocal osteogenic sarcoma Disease_Ontology DOID:3361 DOID:3361 childhood osteosarcoma Disease_Ontology DOID:3362 DOID:3362 coronary aneurysm Disease_Ontology DOID:3367 DOID:3367 bone leiomyosarcoma Disease_Ontology DOID:3368 DOID:3368 Ewing sarcoma of bone Disease_Ontology DOID:3369 DOID:3369 Ewing sarcoma Disease_Ontology DOID:337 DOID:337 spinal accessory nerve neoplasm Disease_Ontology DOID:3371 DOID:3371 chondrosarcoma Disease_Ontology DOID:3372 DOID:3372 chondroblastic osteosarcoma Disease_Ontology DOID:3373 DOID:3373 parosteal osteosarcoma Disease_Ontology DOID:3374 DOID:3374 peripheral osteosarcoma Disease_Ontology DOID:3376 DOID:3376 bone osteosarcoma Disease_Ontology DOID:3377 DOID:3377 small cell osteogenic sarcoma Disease_Ontology DOID:3379 DOID:3379 metachronous osteosarcoma of the bone Disease_Ontology DOID:3381 DOID:3381 liposarcoma of bone Disease_Ontology DOID:3382 DOID:3382 liposarcoma Disease_Ontology DOID:3385 DOID:3385 bacterial vaginosis Disease_Ontology DOID:3388 DOID:3388 periodontal disease Disease_Ontology DOID:3389 DOID:3389 Papillon-Lefevre disease Disease_Ontology DOID:339 DOID:339 accessory nerve disease Disease_Ontology DOID:3390 DOID:3390 palmoplantar keratosis Disease_Ontology DOID:3393 DOID:3393 coronary artery disease Disease_Ontology DOID:3401 DOID:3401 inappropriate ADH syndrome Disease_Ontology DOID:3405 DOID:3405 histiocytosis Disease_Ontology DOID:3407 DOID:3407 carotid artery disease Disease_Ontology DOID:341 DOID:341 peripheral vascular disease Disease_Ontology DOID:3410 DOID:3410 carotid artery thrombosis Disease_Ontology DOID:3413 DOID:3413 alpha-mannosidosis Disease_Ontology DOID:3417 DOID:3417 glossopharyngeal nerve neoplasm Disease_Ontology DOID:3418 DOID:3418 glossopharyngeal nerve disease Disease_Ontology DOID:3419 DOID:3419 optic nerve neoplasm Disease_Ontology DOID:342 DOID:342 subclavian artery aneurysm Disease_Ontology DOID:3421 DOID:3421 trochlear nerve neoplasm Disease_Ontology DOID:3426 DOID:3426 vestibular disease Disease_Ontology DOID:3428 DOID:3428 granulomatous myositis Disease_Ontology DOID:3429 DOID:3429 inclusion body myositis Disease_Ontology DOID:3431 DOID:3431 cerebritis Disease_Ontology DOID:3436 DOID:3436 viral laryngitis Disease_Ontology DOID:3437 DOID:3437 laryngitis Disease_Ontology DOID:3443 DOID:3443 mammary Paget's disease Disease_Ontology DOID:3444 DOID:3444 scrotum Paget's disease Disease_Ontology DOID:3445 DOID:3445 scrotal carcinoma Disease_Ontology DOID:3446 DOID:3446 anal Paget's disease Disease_Ontology DOID:3447 DOID:3447 anus adenocarcinoma Disease_Ontology DOID:3448 DOID:3448 penis Paget's disease Disease_Ontology DOID:3449 DOID:3449 penis carcinoma Disease_Ontology DOID:345 DOID:345 uterine disease Disease_Ontology DOID:3450 DOID:3450 cutaneous Paget's disease Disease_Ontology DOID:3451 DOID:3451 skin carcinoma Disease_Ontology DOID:3454 DOID:3454 brain infarction Disease_Ontology DOID:3456 DOID:3456 cervix erosion Disease_Ontology DOID:3457 DOID:3457 invasive lobular carcinoma Disease_Ontology DOID:3458 DOID:3458 breast adenocarcinoma Disease_Ontology DOID:3459 DOID:3459 breast carcinoma Disease_Ontology DOID:3462 DOID:3462 hamartoma Disease_Ontology DOID:3463 DOID:3463 breast disease Disease_Ontology DOID:3478 DOID:3478 iris cancer Disease_Ontology DOID:3479 DOID:3479 uveal cancer Disease_Ontology DOID:348 DOID:348 blepharochalasis Disease_Ontology DOID:3480 DOID:3480 uveal disease Disease_Ontology DOID:3481 DOID:3481 septicemic plague Disease_Ontology DOID:3482 DOID:3482 plague Disease_Ontology DOID:3486 DOID:3486 necrobiosis lipoidica Disease_Ontology DOID:3488 DOID:3488 cellulitis Disease_Ontology DOID:349 DOID:349 systemic mastocytosis Disease_Ontology DOID:3490 DOID:3490 Noonan syndrome Disease_Ontology DOID:3491 DOID:3491 Turner syndrome Disease_Ontology DOID:3492 DOID:3492 mixed connective tissue disease Disease_Ontology DOID:3493 DOID:3493 signet ring cell adenocarcinoma Disease_Ontology DOID:3494 DOID:3494 bile duct signet ring cell carcinoma Disease_Ontology DOID:3495 DOID:3495 extrahepatic bile duct adenocarcinoma Disease_Ontology DOID:3497 DOID:3497 pancreatic signet ring cell adenocarcinoma Disease_Ontology DOID:3498 DOID:3498 pancreatic ductal adenocarcinoma Disease_Ontology DOID:3499 DOID:3499 gallbladder signet ring cell adenocarcinoma Disease_Ontology DOID:350 DOID:350 mastocytosis Disease_Ontology DOID:3500 DOID:3500 gallbladder adenocarcinoma Disease_Ontology DOID:3501 DOID:3501 ampullary signet ring cell adenocarcinoma Disease_Ontology DOID:3502 DOID:3502 ampulla of Vater adenocarcinoma Disease_Ontology DOID:3503 DOID:3503 breast signet ring cell adenocarcinoma Disease_Ontology DOID:3504 DOID:3504 prostate signet ring cell adenocarcinoma Disease_Ontology DOID:3507 DOID:3507 dermatofibrosarcoma protuberans Disease_Ontology DOID:3508 DOID:3508 stricture or kinking of ureter Disease_Ontology DOID:3512 DOID:3512 neurofibrosarcoma Disease_Ontology DOID:3516 DOID:3516 adult fibrosarcoma Disease_Ontology DOID:3517 DOID:3517 conventional fibrosarcoma Disease_Ontology DOID:3520 DOID:3520 childhood fibrosarcoma Disease_Ontology DOID:3522 DOID:3522 lateral medullary syndrome Disease_Ontology DOID:3523 DOID:3523 brain stem infarction Disease_Ontology DOID:3525 DOID:3525 middle cerebral artery infarction Disease_Ontology DOID:3526 DOID:3526 cerebral infarction Disease_Ontology DOID:3527 DOID:3527 cerebral arterial disease Disease_Ontology DOID:3528 DOID:3528 anterior cerebral artery infarction Disease_Ontology DOID:3529 DOID:3529 congenital myopathy 1A Disease_Ontology DOID:3530 DOID:3530 chronic wasting disease Disease_Ontology DOID:3534 DOID:3534 Lafora disease Disease_Ontology DOID:3535 DOID:3535 Unverricht-Lundborg syndrome Disease_Ontology DOID:3540 DOID:3540 choroid plexus cancer Disease_Ontology DOID:3541 DOID:3541 cerebral ventricle cancer Disease_Ontology DOID:3542 DOID:3542 adult choroid plexus cancer Disease_Ontology DOID:3544 DOID:3544 atypical choroid plexus papilloma Disease_Ontology DOID:3545 DOID:3545 childhood choroid plexus cancer Disease_Ontology DOID:355 DOID:355 mast-cell sarcoma Disease_Ontology DOID:3557 DOID:3557 superior mesenteric artery syndrome Disease_Ontology DOID:3558 DOID:3558 duodenal obstruction Disease_Ontology DOID:3559 DOID:3559 pseudomyxoma peritonei Disease_Ontology DOID:3565 DOID:3565 meningioma Disease_Ontology DOID:3571 DOID:3571 liver cancer Disease_Ontology DOID:3572 DOID:3572 intracranial sinus thrombosis Disease_Ontology DOID:3574 DOID:3574 lateral sinus thrombosis Disease_Ontology DOID:3575 DOID:3575 cavernous sinus thrombosis Disease_Ontology DOID:3576 DOID:3576 sagittal sinus thrombosis Disease_Ontology DOID:3577 DOID:3577 Sertoli cell tumor Disease_Ontology DOID:3578 DOID:3578 ovarian gonadoblastoma Disease_Ontology DOID:3579 DOID:3579 testicular gonadoblastoma Disease_Ontology DOID:3587 DOID:3587 pancreatic ductal carcinoma Disease_Ontology DOID:3590 DOID:3590 gestational trophoblastic neoplasm Disease_Ontology DOID:3593 DOID:3593 epithelioid trophoblastic tumor Disease_Ontology DOID:3594 DOID:3594 choriocarcinoma Disease_Ontology DOID:3596 DOID:3596 placental site trophoblastic tumor Disease_Ontology DOID:3602 DOID:3602 toxic encephalopathy Disease_Ontology DOID:3603 DOID:3603 mucinous cystadenocarcinoma Disease_Ontology DOID:3604 DOID:3604 ovarian mucinous cystadenocarcinoma Disease_Ontology DOID:3605 DOID:3605 ovarian cystadenocarcinoma Disease_Ontology DOID:3606 DOID:3606 ovarian mucinous adenocarcinoma Disease_Ontology DOID:3607 DOID:3607 appendix mucinous cystadenocarcinoma Disease_Ontology DOID:3608 DOID:3608 appendix adenocarcinoma Disease_Ontology DOID:3609 DOID:3609 breast mucinous cystadenocarcinoma Disease_Ontology DOID:361 DOID:361 cervix endometriosis Disease_Ontology DOID:3610 DOID:3610 breast mucinous carcinoma Disease_Ontology DOID:3611 DOID:3611 acute retinal necrosis syndrome Disease_Ontology DOID:3612 DOID:3612 retinitis Disease_Ontology DOID:3613 DOID:3613 Canavan disease Disease_Ontology DOID:3614 DOID:3614 Kallmann syndrome Disease_Ontology DOID:3615 DOID:3615 infiltrating angiolipoma Disease_Ontology DOID:3616 DOID:3616 angiolipoma Disease_Ontology DOID:3617 DOID:3617 epidural spinal canal angiolipoma Disease_Ontology DOID:3618 DOID:3618 epidural spinal canal neoplasm Disease_Ontology DOID:3620 DOID:3620 central nervous system cancer Disease_Ontology DOID:3627 DOID:3627 aortic aneurysm Disease_Ontology DOID:363 DOID:363 uterine cancer Disease_Ontology DOID:3633 DOID:3633 beta-mannosidosis Disease_Ontology DOID:3635 DOID:3635 congenital myasthenic syndrome Disease_Ontology DOID:3637 DOID:3637 childhood spinal cord tumor Disease_Ontology DOID:3639 DOID:3639 spinal cord intramedullary teratoma Disease_Ontology DOID:3640 DOID:3640 central nervous system teratoma Disease_Ontology DOID:3641 DOID:3641 conus medullaris neoplasm Disease_Ontology DOID:3642 DOID:3642 empty sella syndrome Disease_Ontology DOID:3643 DOID:3643 sella turcica neoplasm Disease_Ontology DOID:3644 DOID:3644 hypothalamic neoplasm Disease_Ontology DOID:3646 DOID:3646 necrosis of pituitary Disease_Ontology DOID:3649 DOID:3649 pyruvate decarboxylase deficiency Disease_Ontology DOID:365 DOID:365 bladder disease Disease_Ontology DOID:3650 DOID:3650 lactic acidosis Disease_Ontology DOID:3651 DOID:3651 pyruvate carboxylase deficiency disease Disease_Ontology DOID:3652 DOID:3652 Leigh disease Disease_Ontology DOID:3659 DOID:3659 sialuria Disease_Ontology DOID:3660 DOID:3660 wheat allergy Disease_Ontology DOID:3663 DOID:3663 cutaneous mastocytosis Disease_Ontology DOID:3664 DOID:3664 mast cell neoplasm Disease_Ontology DOID:3665 DOID:3665 diffuse cutaneous mastocytosis Disease_Ontology DOID:3666 DOID:3666 solitary mastocytoma of the skin Disease_Ontology DOID:3669 DOID:3669 intermittent claudication Disease_Ontology DOID:367 DOID:367 olfactory nerve disease Disease_Ontology DOID:3671 DOID:3671 pericoronitis Disease_Ontology DOID:3672 DOID:3672 rhabdoid cancer Disease_Ontology DOID:3674 DOID:3674 kidney rhabdoid cancer Disease_Ontology DOID:3675 DOID:3675 childhood kidney cancer Disease_Ontology DOID:3677 DOID:3677 pulmonary plasma cell granuloma Disease_Ontology DOID:368 DOID:368 cerebrum cancer Disease_Ontology DOID:3683 DOID:3683 lung benign neoplasm Disease_Ontology DOID:3687 DOID:3687 MELAS syndrome Disease_Ontology DOID:3688 DOID:3688 plexopathy Disease_Ontology DOID:3689 DOID:3689 brachial plexus neuritis Disease_Ontology DOID:369 DOID:369 olfactory neuroblastoma Disease_Ontology DOID:3690 DOID:3690 brachial plexus neuropathy Disease_Ontology DOID:3691 DOID:3691 anal colloid adenocarcinoma Disease_Ontology DOID:3692 DOID:3692 anal canal adenocarcinoma Disease_Ontology DOID:3693 DOID:3693 ampulla of Vater mucinous adenocarcinoma Disease_Ontology DOID:3696 DOID:3696 acute sanguinous otitis media Disease_Ontology DOID:3697 DOID:3697 acute transudative otitis media Disease_Ontology DOID:3698 DOID:3698 bile duct mucinous adenocarcinoma Disease_Ontology DOID:3699 DOID:3699 uterine ligament mucinous adenocarcinoma Disease_Ontology DOID:37 DOID:37 skin disease Disease_Ontology DOID:370 DOID:370 malignant olfactory nerve neoplasm Disease_Ontology DOID:3700 DOID:3700 uterine ligament adenocarcinoma Disease_Ontology DOID:3701 DOID:3701 cervical mucinous adenocarcinoma Disease_Ontology DOID:3702 DOID:3702 cervical adenocarcinoma Disease_Ontology DOID:3703 DOID:3703 prostate colloid adenocarcinoma Disease_Ontology DOID:3704 DOID:3704 fallopian tube mucinous adenocarcinoma Disease_Ontology DOID:3705 DOID:3705 fallopian tube mucinous tumor Disease_Ontology DOID:3706 DOID:3706 fallopian tube adenocarcinoma Disease_Ontology DOID:3707 DOID:3707 endometrial mucinous adenocarcinoma Disease_Ontology DOID:3709 DOID:3709 rectum mucinous adenocarcinoma Disease_Ontology DOID:371 DOID:371 extracranial neuroblastoma Disease_Ontology DOID:3710 DOID:3710 bladder colloid adenocarcinoma Disease_Ontology DOID:3711 DOID:3711 bladder adenocarcinoma Disease_Ontology DOID:3713 DOID:3713 ovary adenocarcinoma Disease_Ontology DOID:3716 DOID:3716 mucinous stomach adenocarcinoma Disease_Ontology DOID:3717 DOID:3717 gastric adenocarcinoma Disease_Ontology DOID:3720 DOID:3720 extramedullary plasmacytoma Disease_Ontology DOID:3721 DOID:3721 plasmacytoma Disease_Ontology DOID:3722 DOID:3722 solitary osseous plasmacytoma Disease_Ontology DOID:3723 DOID:3723 solitary plasmacytoma of chest wall Disease_Ontology DOID:3728 DOID:3728 acute allergic sanguinous otitis media Disease_Ontology DOID:3733 DOID:3733 theileriasis Disease_Ontology DOID:3737 DOID:3737 verrucous carcinoma Disease_Ontology DOID:374 DOID:374 nutrition disease Disease_Ontology DOID:3740 DOID:3740 vulva verrucous carcinoma Disease_Ontology DOID:3741 DOID:3741 bladder verrucous squamous cell carcinoma Disease_Ontology DOID:3742 DOID:3742 bladder squamous cell carcinoma Disease_Ontology DOID:3743 DOID:3743 cervical verrucous carcinoma Disease_Ontology DOID:3744 DOID:3744 cervical squamous cell carcinoma Disease_Ontology DOID:3747 DOID:3747 esophagus verrucous carcinoma Disease_Ontology DOID:3748 DOID:3748 esophagus squamous cell carcinoma Disease_Ontology DOID:3749 DOID:3749 urethral verrucous carcinoma Disease_Ontology DOID:3750 DOID:3750 urethra squamous cell carcinoma Disease_Ontology DOID:3751 DOID:3751 plantar verrucous skin carcinoma Disease_Ontology DOID:3752 DOID:3752 larynx verrucous carcinoma Disease_Ontology DOID:3753 DOID:3753 Hermansky-Pudlak syndrome Disease_Ontology DOID:3755 DOID:3755 antithrombin III deficiency Disease_Ontology DOID:3756 DOID:3756 protein C deficiency Disease_Ontology DOID:3762 DOID:3762 cytochrome-c oxidase deficiency disease Disease_Ontology DOID:3763 DOID:3763 hermaphroditism Disease_Ontology DOID:3764 DOID:3764 Denys-Drash syndrome Disease_Ontology DOID:3765 DOID:3765 pseudohermaphroditism Disease_Ontology DOID:3766 DOID:3766 leukorrhea Disease_Ontology DOID:3767 DOID:3767 vaginal discharge Disease_Ontology DOID:3770 DOID:3770 pulmonary fibrosis Disease_Ontology DOID:3772 DOID:3772 intraventricular meningioma Disease_Ontology DOID:3774 DOID:3774 chordoid glioma Disease_Ontology DOID:3777 DOID:3777 granuloma annulare Disease_Ontology DOID:3781 DOID:3781 anovulation Disease_Ontology DOID:3783 DOID:3783 Coffin-Lowry syndrome Disease_Ontology DOID:379 DOID:379 external ear disease Disease_Ontology DOID:3798 DOID:3798 pleural empyema Disease_Ontology DOID:3803 DOID:3803 Crigler-Najjar syndrome Disease_Ontology DOID:3805 DOID:3805 porokeratosis Disease_Ontology DOID:3809 DOID:3809 epidural spinal canal meningioma Disease_Ontology DOID:381 DOID:381 arthropathy Disease_Ontology DOID:3813 DOID:3813 central nervous system chondroma Disease_Ontology DOID:3814 DOID:3814 soft tissue chondroma Disease_Ontology DOID:3816 DOID:3816 glossopharyngeal nerve paralysis Disease_Ontology DOID:3817 DOID:3817 cranial nerve palsy Disease_Ontology DOID:3818 DOID:3818 photoallergic dermatitis Disease_Ontology DOID:3819 DOID:3819 toxicodendron dermatitis Disease_Ontology DOID:3821 DOID:3821 posterior cerebral artery infarction Disease_Ontology DOID:3825 DOID:3825 Shwartzman phenomenon Disease_Ontology DOID:3827 DOID:3827 congenital diaphragmatic hernia Disease_Ontology DOID:3828 DOID:3828 chromophobe adenoma Disease_Ontology DOID:3829 DOID:3829 pituitary adenoma Disease_Ontology DOID:384 DOID:384 Wolff-Parkinson-White syndrome Disease_Ontology DOID:3840 DOID:3840 craniopharyngioma Disease_Ontology DOID:3842 DOID:3842 skull base cancer Disease_Ontology DOID:3843 DOID:3843 diencephalic neoplasm Disease_Ontology DOID:3846 DOID:3846 adamantinous craniopharyngioma Disease_Ontology DOID:3847 DOID:3847 papillary craniopharyngioma Disease_Ontology DOID:3850 DOID:3850 hemangiopericytic tumor Disease_Ontology DOID:3852 DOID:3852 Peutz-Jeghers syndrome Disease_Ontology DOID:3855 DOID:3855 seminal vesicle tumor Disease_Ontology DOID:3856 DOID:3856 male reproductive organ cancer Disease_Ontology DOID:3857 DOID:3857 large cell medulloblastoma Disease_Ontology DOID:3860 DOID:3860 cerebellar vermis medulloblastoma Disease_Ontology DOID:3861 DOID:3861 medullomyoblastoma Disease_Ontology DOID:3864 DOID:3864 adult medulloblastoma Disease_Ontology DOID:3865 DOID:3865 adult central nervous system embryonal tumor Disease_Ontology DOID:3868 DOID:3868 melanotic medulloblastoma Disease_Ontology DOID:3869 DOID:3869 childhood medulloblastoma Disease_Ontology DOID:3870 DOID:3870 childhood central nervous system embryonal tumor Disease_Ontology DOID:3873 DOID:3873 desmoplastic/nodular medulloblastoma Disease_Ontology DOID:3875 DOID:3875 thrombophlebitis Disease_Ontology DOID:3876 DOID:3876 colonic pseudo-obstruction Disease_Ontology DOID:3877 DOID:3877 functional colonic disease Disease_Ontology DOID:3883 DOID:3883 Lynch syndrome Disease_Ontology DOID:3890 DOID:3890 acute intermittent porphyria Disease_Ontology DOID:3891 DOID:3891 placental insufficiency Disease_Ontology DOID:3892 DOID:3892 insulinoma Disease_Ontology DOID:3893 DOID:3893 hidrocystoma Disease_Ontology DOID:3895 DOID:3895 apocrine adenoma Disease_Ontology DOID:3896 DOID:3896 hidradenoma Disease_Ontology DOID:3901 DOID:3901 vulvitis Disease_Ontology DOID:3904 DOID:3904 bronchus carcinoma Disease_Ontology DOID:3905 DOID:3905 lung carcinoma Disease_Ontology DOID:3906 DOID:3906 bronchial benign neoplasm Disease_Ontology DOID:3907 DOID:3907 lung squamous cell carcinoma Disease_Ontology DOID:3908 DOID:3908 lung non-small cell carcinoma Disease_Ontology DOID:3910 DOID:3910 lung adenocarcinoma Disease_Ontology DOID:3911 DOID:3911 progeria Disease_Ontology DOID:3917 DOID:3917 pancreatic serous cystadenoma Disease_Ontology DOID:3918 DOID:3918 pancreatic cystadenoma Disease_Ontology DOID:3919 DOID:3919 pancreatic serous cystic neoplasm Disease_Ontology DOID:3923 DOID:3923 diffuse lipomatosis Disease_Ontology DOID:3924 DOID:3924 main bronchus cancer Disease_Ontology DOID:3925 DOID:3925 steroid lipomatosis Disease_Ontology DOID:3926 DOID:3926 mediastinal lipomatosis Disease_Ontology DOID:3927 DOID:3927 pelvic lipomatosis Disease_Ontology DOID:3928 DOID:3928 adiposis dolorosa Disease_Ontology DOID:3930 DOID:3930 otitis interna Disease_Ontology DOID:3933 DOID:3933 anterior compartment syndrome Disease_Ontology DOID:3944 DOID:3944 Arenaviridae infectious disease Disease_Ontology DOID:3946 DOID:3946 pituitary-dependent Cushing's disease Disease_Ontology DOID:3947 DOID:3947 adrenal gland hyperfunction Disease_Ontology DOID:3948 DOID:3948 adrenocortical carcinoma Disease_Ontology DOID:3950 DOID:3950 adrenal carcinoma Disease_Ontology DOID:3951 DOID:3951 acute myocarditis Disease_Ontology DOID:3952 DOID:3952 adrenal cortex disease Disease_Ontology DOID:3953 DOID:3953 adrenal gland cancer Disease_Ontology DOID:3959 DOID:3959 adrenal cortical adenocarcinoma Disease_Ontology DOID:396 DOID:396 Loeffler endocarditis Disease_Ontology DOID:3962 DOID:3962 follicular thyroid carcinoma Disease_Ontology DOID:3963 DOID:3963 thyroid gland carcinoma Disease_Ontology DOID:3964 DOID:3964 trabecular follicular adenocarcinoma Disease_Ontology DOID:3965 DOID:3965 Merkel cell carcinoma Disease_Ontology DOID:3969 DOID:3969 papillary thyroid carcinoma Disease_Ontology DOID:397 DOID:397 restrictive cardiomyopathy Disease_Ontology DOID:3972 DOID:3972 poorly differentiated thyroid carcinoma Disease_Ontology DOID:3973 DOID:3973 medullary thyroid carcinoma Disease_Ontology DOID:3978 DOID:3978 extrinsic cardiomyopathy Disease_Ontology DOID:3981 DOID:3981 pantothenate kinase-associated neurodegeneration Disease_Ontology DOID:3982 DOID:3982 Meige syndrome Disease_Ontology DOID:3983 DOID:3983 oesophagostomiasis Disease_Ontology DOID:3985 DOID:3985 ostertagiasis Disease_Ontology DOID:399 DOID:399 tuberculosis Disease_Ontology DOID:3996 DOID:3996 urinary system cancer Disease_Ontology DOID:3998 DOID:3998 Bartholin's gland transitional cell carcinoma Disease_Ontology DOID:3999 DOID:3999 Bartholin's gland carcinoma Disease_Ontology DOID:4 DOID:4 disease Disease_Ontology DOID:4000 DOID:4000 ovary transitional cell carcinoma Disease_Ontology DOID:4001 DOID:4001 ovarian carcinoma Disease_Ontology DOID:4003 DOID:4003 Schneiderian carcinoma Disease_Ontology DOID:4005 DOID:4005 endometrial transitional cell carcinoma Disease_Ontology DOID:4006 DOID:4006 bladder urothelial carcinoma Disease_Ontology DOID:4007 DOID:4007 bladder carcinoma Disease_Ontology DOID:4008 DOID:4008 fallopian tube transitional cell carcinoma Disease_Ontology DOID:401 DOID:401 multidrug-resistant tuberculosis Disease_Ontology DOID:4011 DOID:4011 prostate transitional cell carcinoma Disease_Ontology DOID:4012 DOID:4012 papillary transitional carcinoma Disease_Ontology DOID:4013 DOID:4013 urethra transitional cell carcinoma Disease_Ontology DOID:4014 DOID:4014 sarcomatoid transitional cell carcinoma Disease_Ontology DOID:4015 DOID:4015 sarcomatoid carcinoma Disease_Ontology DOID:402 DOID:402 oral tuberculosis Disease_Ontology DOID:4022 DOID:4022 ureterocele Disease_Ontology DOID:4023 DOID:4023 linitis plastica Disease_Ontology DOID:4024 DOID:4024 scirrhous adenocarcinoma Disease_Ontology DOID:4028 DOID:4028 angioma serpiginosum Disease_Ontology DOID:4029 DOID:4029 gastritis Disease_Ontology DOID:403 DOID:403 mouth disease Disease_Ontology DOID:4030 DOID:4030 eosinophilic gastritis Disease_Ontology DOID:4031 DOID:4031 eosinophilic gastroenteritis Disease_Ontology DOID:4033 DOID:4033 bacterial gastritis Disease_Ontology DOID:4034 DOID:4034 fungal gastritis Disease_Ontology DOID:4035 DOID:4035 lymphocytic gastritis Disease_Ontology DOID:4037 DOID:4037 necrotizing gastritis Disease_Ontology DOID:4038 DOID:4038 granulomatous gastritis Disease_Ontology DOID:404 DOID:404 gastrointestinal tuberculosis Disease_Ontology DOID:4043 DOID:4043 skeletal muscle cancer Disease_Ontology DOID:4044 DOID:4044 skeletal muscle neoplasm Disease_Ontology DOID:4045 DOID:4045 muscle cancer Disease_Ontology DOID:4047 DOID:4047 liver rhabdomyosarcoma Disease_Ontology DOID:4048 DOID:4048 central nervous system rhabdomyosarcoma Disease_Ontology DOID:4049 DOID:4049 mediastinum rhabdomyosarcoma Disease_Ontology DOID:4050 DOID:4050 mediastinum sarcoma Disease_Ontology DOID:4051 DOID:4051 alveolar rhabdomyosarcoma Disease_Ontology DOID:4053 DOID:4053 rectum rhabdomyosarcoma Disease_Ontology DOID:4054 DOID:4054 prostate sarcoma Disease_Ontology DOID:4055 DOID:4055 ectomesenchymoma Disease_Ontology DOID:4057 DOID:4057 gallbladder rhabdomyosarcoma Disease_Ontology DOID:4058 DOID:4058 gallbladder sarcoma Disease_Ontology DOID:4059 DOID:4059 ovary rhabdomyosarcoma Disease_Ontology DOID:4060 DOID:4060 breast rhabdomyosarcoma Disease_Ontology DOID:4061 DOID:4061 testis rhabdomyosarcoma Disease_Ontology DOID:4062 DOID:4062 testis sarcoma Disease_Ontology DOID:4064 DOID:4064 bile duct sarcoma Disease_Ontology DOID:4065 DOID:4065 mixed type rhabdomyosarcoma Disease_Ontology DOID:4066 DOID:4066 anus rhabdomyosarcoma Disease_Ontology DOID:4067 DOID:4067 anus sarcoma Disease_Ontology DOID:407 DOID:407 hepatic tuberculosis Disease_Ontology DOID:4071 DOID:4071 duodenogastric reflux Disease_Ontology DOID:4072 DOID:4072 duodenum disease Disease_Ontology DOID:4073 DOID:4073 pancreatic cystadenocarcinoma Disease_Ontology DOID:4074 DOID:4074 pancreatic adenocarcinoma Disease_Ontology DOID:4075 DOID:4075 bile duct cystadenocarcinoma Disease_Ontology DOID:4078 DOID:4078 tricuspid valve stenosis Disease_Ontology DOID:4079 DOID:4079 heart valve disease Disease_Ontology DOID:4080 DOID:4080 tricuspid valve insufficiency Disease_Ontology DOID:4084 DOID:4084 testicular trophoblastic tumor Disease_Ontology DOID:4085 DOID:4085 trophoblastic neoplasm Disease_Ontology DOID:4087 DOID:4087 testicular pure germ cell tumor Disease_Ontology DOID:409 DOID:409 liver disease Disease_Ontology DOID:4090 DOID:4090 agnosia Disease_Ontology DOID:4109 DOID:4109 tick infestation Disease_Ontology DOID:4110 DOID:4110 parasitic ectoparasitic infectious disease Disease_Ontology DOID:4111 DOID:4111 cervical adenosarcoma Disease_Ontology DOID:4112 DOID:4112 cervical carcinosarcoma Disease_Ontology DOID:4113 DOID:4113 uterine corpus adenosarcoma Disease_Ontology DOID:4114 DOID:4114 uterine body mixed cancer Disease_Ontology DOID:4115 DOID:4115 ovarian mesodermal adenosarcoma Disease_Ontology DOID:4117 DOID:4117 vaginal adenosarcoma Disease_Ontology DOID:4118 DOID:4118 colon neuroendocrine neoplasm Disease_Ontology DOID:4119 DOID:4119 intestinal neuroendocrine benign tumor Disease_Ontology DOID:4123 DOID:4123 nail disease Disease_Ontology DOID:4131 DOID:4131 erythrasma Disease_Ontology DOID:4136 DOID:4136 myxosarcoma Disease_Ontology DOID:4137 DOID:4137 common bile duct disease Disease_Ontology DOID:4138 DOID:4138 bile duct disease Disease_Ontology DOID:4140 DOID:4140 biliary dyskinesia Disease_Ontology DOID:4141 DOID:4141 intraorbital meningioma Disease_Ontology DOID:4143 DOID:4143 orbital cancer Disease_Ontology DOID:4147 DOID:4147 gastrointestinal adenoma Disease_Ontology DOID:4148 DOID:4148 gastrointestinal neuroendocrine benign tumor Disease_Ontology DOID:4151 DOID:4151 skull base chordoma Disease_Ontology DOID:4152 DOID:4152 chondroid chordoma Disease_Ontology DOID:4153 DOID:4153 spinal chordoma Disease_Ontology DOID:4154 DOID:4154 dentinogenesis imperfecta Disease_Ontology DOID:4156 DOID:4156 primary syphilis Disease_Ontology DOID:4157 DOID:4157 secondary syphilis Disease_Ontology DOID:4159 DOID:4159 skin cancer Disease_Ontology DOID:4160 DOID:4160 differentiating neuroblastoma Disease_Ontology DOID:4163 DOID:4163 ganglioneuroblastoma Disease_Ontology DOID:4164 DOID:4164 cerebral neuroblastoma Disease_Ontology DOID:4166 DOID:4166 syphilis Disease_Ontology DOID:417 DOID:417 autoimmune disease Disease_Ontology DOID:4175 DOID:4175 Rh isoimmunization Disease_Ontology DOID:4176 DOID:4176 blood group incompatibility Disease_Ontology DOID:418 DOID:418 systemic scleroderma Disease_Ontology DOID:4183 DOID:4183 pseudopseudohypoparathyroidism Disease_Ontology DOID:4184 DOID:4184 pseudohypoparathyroidism Disease_Ontology DOID:4186 DOID:4186 articulation disorder Disease_Ontology DOID:4188 DOID:4188 echolalia Disease_Ontology DOID:4189 DOID:4189 mutism Disease_Ontology DOID:419 DOID:419 scleroderma Disease_Ontology DOID:4193 DOID:4193 intracranial thrombosis Disease_Ontology DOID:4194 DOID:4194 glucose metabolism disease Disease_Ontology DOID:4195 DOID:4195 hyperglycemia Disease_Ontology DOID:4196 DOID:4196 femoral neuropathy Disease_Ontology DOID:420 DOID:420 hypertrichosis Disease_Ontology DOID:4201 DOID:4201 peroneal neuropathy Disease_Ontology DOID:4202 DOID:4202 brain stem glioma Disease_Ontology DOID:4203 DOID:4203 brain stem cancer Disease_Ontology DOID:4205 DOID:4205 cerebellum cancer Disease_Ontology DOID:4206 DOID:4206 childhood brain stem neoplasm Disease_Ontology DOID:4207 DOID:4207 childhood infratentorial neoplasm Disease_Ontology DOID:4209 DOID:4209 brainstem intraparenchymal clear cell meningioma Disease_Ontology DOID:421 DOID:421 hair disease Disease_Ontology DOID:4210 DOID:4210 clear cell meningioma Disease_Ontology DOID:4211 DOID:4211 posterior fossa meningioma Disease_Ontology DOID:4217 DOID:4217 malignant ovarian Brenner tumor Disease_Ontology DOID:422 DOID:422 congenital structural myopathy Disease_Ontology DOID:4223 DOID:4223 pyoderma Disease_Ontology DOID:4226 DOID:4226 endometrial stromal sarcoma Disease_Ontology DOID:4227 DOID:4227 uterine corpus endometrial stromal sarcoma Disease_Ontology DOID:423 DOID:423 myopathy Disease_Ontology DOID:4230 DOID:4230 smooth muscle cancer Disease_Ontology DOID:4231 DOID:4231 histiocytoma Disease_Ontology DOID:4232 DOID:4232 extraosseous Ewing sarcoma Disease_Ontology DOID:4233 DOID:4233 clear cell sarcoma Disease_Ontology DOID:4235 DOID:4235 spindle cell sarcoma Disease_Ontology DOID:4236 DOID:4236 carcinosarcoma Disease_Ontology DOID:4239 DOID:4239 alveolar soft part sarcoma Disease_Ontology DOID:424 DOID:424 pulmonary immaturity Disease_Ontology DOID:4242 DOID:4242 kidney sarcoma Disease_Ontology DOID:4247 DOID:4247 coronary restenosis Disease_Ontology DOID:4248 DOID:4248 coronary stenosis Disease_Ontology DOID:4249 DOID:4249 Gerstmann-Straussler-Scheinker syndrome Disease_Ontology DOID:4250 DOID:4250 conjunctivochalasis Disease_Ontology DOID:4251 DOID:4251 conjunctival disease Disease_Ontology DOID:4252 DOID:4252 Alexander disease Disease_Ontology DOID:4253 DOID:4253 melorheostosis Disease_Ontology DOID:4254 DOID:4254 osteosclerosis Disease_Ontology DOID:4257 DOID:4257 Caffey disease Disease_Ontology DOID:4258 DOID:4258 Weissenbacher-Zweymuller syndrome Disease_Ontology DOID:4260 DOID:4260 gait apraxia Disease_Ontology DOID:4265 DOID:4265 angiomyoma Disease_Ontology DOID:4266 DOID:4266 intravascular angioleiomyoma Disease_Ontology DOID:4267 DOID:4267 akinetic mutism Disease_Ontology DOID:4270 DOID:4270 encephalitozoonosis Disease_Ontology DOID:4271 DOID:4271 microsporidiosis Disease_Ontology DOID:4277 DOID:4277 penis basal cell carcinoma Disease_Ontology DOID:4278 DOID:4278 scrotum basal cell carcinoma Disease_Ontology DOID:4279 DOID:4279 infundibulocystic basal cell carcinoma Disease_Ontology DOID:4280 DOID:4280 nodular basal cell carcinoma Disease_Ontology DOID:4281 DOID:4281 metatypical basal cell carcinoma Disease_Ontology DOID:4282 DOID:4282 pigmented basal cell carcinoma Disease_Ontology DOID:4283 DOID:4283 anal margin basal cell carcinoma Disease_Ontology DOID:4284 DOID:4284 anal margin carcinoma Disease_Ontology DOID:4286 DOID:4286 skin nasal cell carcinoma with sebaceous differentiation Disease_Ontology DOID:4287 DOID:4287 external ear basal cell carcinoma Disease_Ontology DOID:4288 DOID:4288 external ear carcinoma Disease_Ontology DOID:4289 DOID:4289 micronodular basal cell carcinoma Disease_Ontology DOID:429 DOID:429 gynatresia Disease_Ontology DOID:4290 DOID:4290 adamantinoid basal cell epithelioma Disease_Ontology DOID:4291 DOID:4291 fibroepithelial basal cell carcinoma Disease_Ontology DOID:4292 DOID:4292 morpheaform basal cell carcinoma Disease_Ontology DOID:4293 DOID:4293 clear cell basal cell carcinoma Disease_Ontology DOID:4294 DOID:4294 adenoid basal cell carcinoma Disease_Ontology DOID:4295 DOID:4295 follicular basal cell carcinoma Disease_Ontology DOID:4297 DOID:4297 scimitar syndrome Disease_Ontology DOID:4299 DOID:4299 infiltrative basal cell carcinoma Disease_Ontology DOID:4300 DOID:4300 superficial basal cell carcinoma Disease_Ontology DOID:4301 DOID:4301 vulva basal cell carcinoma Disease_Ontology DOID:4302 DOID:4302 cystic basal cell carcinoma Disease_Ontology DOID:4303 DOID:4303 sarcomatoid basal cell carcinoma Disease_Ontology DOID:4304 DOID:4304 signet ring basal cell carcinoma Disease_Ontology DOID:4305 DOID:4305 bone giant cell tumor Disease_Ontology DOID:4306 DOID:4306 radiculopathy Disease_Ontology DOID:4307 DOID:4307 polyradiculopathy Disease_Ontology DOID:4308 DOID:4308 polyradiculoneuropathy Disease_Ontology DOID:431 DOID:431 myofascial pain syndrome Disease_Ontology DOID:4310 DOID:4310 smooth muscle tumor Disease_Ontology DOID:4313 DOID:4313 epidermolysis bullosa acquisita Disease_Ontology DOID:4320 DOID:4320 non-gestational choriocarcinoma Disease_Ontology DOID:4321 DOID:4321 large cell acanthoma Disease_Ontology DOID:4322 DOID:4322 pilar sheath acanthoma Disease_Ontology DOID:4323 DOID:4323 epidermolytic acanthoma Disease_Ontology DOID:4324 DOID:4324 acantholytic acanthoma Disease_Ontology DOID:4325 DOID:4325 Ebola virus disease Disease_Ontology DOID:4327 DOID:4327 Marburg hemorrhagic fever Disease_Ontology DOID:4329 DOID:4329 Erdheim-Chester disease Disease_Ontology DOID:4330 DOID:4330 non-Langerhans-cell histiocytosis Disease_Ontology DOID:4331 DOID:4331 burning mouth syndrome Disease_Ontology DOID:4333 DOID:4333 parovarian cyst Disease_Ontology DOID:4334 DOID:4334 splenic manifestation of prolymphocytic leukemia Disease_Ontology DOID:4336 DOID:4336 tinea favosa Disease_Ontology DOID:4337 DOID:4337 tinea capitis Disease_Ontology DOID:4346 DOID:4346 variegate porphyria Disease_Ontology DOID:4347 DOID:4347 lymphocele Disease_Ontology DOID:4352 DOID:4352 ciliary body cancer Disease_Ontology DOID:4353 DOID:4353 ciliary body disease Disease_Ontology DOID:4359 DOID:4359 amelanotic melanoma Disease_Ontology DOID:436 DOID:436 posterior mediastinum cancer Disease_Ontology DOID:4360 DOID:4360 epithelioid cell melanoma Disease_Ontology DOID:4362 DOID:4362 cervical cancer Disease_Ontology DOID:4364 DOID:4364 malignant breast melanoma Disease_Ontology DOID:4367 DOID:4367 apparent mineralocorticoid excess syndrome Disease_Ontology DOID:437 DOID:437 myasthenia gravis Disease_Ontology DOID:4370 DOID:4370 stomach diverticulosis Disease_Ontology DOID:4371 DOID:4371 Schnitzler syndrome Disease_Ontology DOID:4372 DOID:4372 intracranial embolism Disease_Ontology DOID:4374 DOID:4374 Silo filler's disease Disease_Ontology DOID:4376 DOID:4376 milk allergy Disease_Ontology DOID:4377 DOID:4377 egg allergy Disease_Ontology DOID:4378 DOID:4378 peanut allergy Disease_Ontology DOID:4379 DOID:4379 nut allergy Disease_Ontology DOID:438 DOID:438 autoimmune disease of the nervous system Disease_Ontology DOID:4384 DOID:4384 orbit alveolar rhabdomyosarcoma Disease_Ontology DOID:4385 DOID:4385 papillary squamous carcinoma Disease_Ontology DOID:4386 DOID:4386 myofibroma Disease_Ontology DOID:4388 DOID:4388 bone peripheral neuroepithelioma Disease_Ontology DOID:4389 DOID:4389 soft tissue peripheral neuroepithelioma Disease_Ontology DOID:439 DOID:439 neuromuscular junction disease Disease_Ontology DOID:4394 DOID:4394 reticulohistiocytic granuloma Disease_Ontology DOID:4397 DOID:4397 granulomatous dermatitis Disease_Ontology DOID:4398 DOID:4398 pustulosis of palm and sole Disease_Ontology DOID:4399 DOID:4399 acneiform dermatitis Disease_Ontology DOID:440 DOID:440 neuromuscular disease Disease_Ontology DOID:4400 DOID:4400 dermatosis papulosa nigra Disease_Ontology DOID:4404 DOID:4404 occupational dermatitis Disease_Ontology DOID:4406 DOID:4406 spongiotic dermatitis Disease_Ontology DOID:4407 DOID:4407 phototoxic dermatitis Disease_Ontology DOID:4409 DOID:4409 folliculitis Disease_Ontology DOID:4411 DOID:4411 hepatitis E Disease_Ontology DOID:4413 DOID:4413 cervix melanoma Disease_Ontology DOID:4415 DOID:4415 fibrous histiocytoma Disease_Ontology DOID:4418 DOID:4418 cutaneous fibrous histiocytoma Disease_Ontology DOID:4419 DOID:4419 benign deep fibrous histiocytoma Disease_Ontology DOID:4422 DOID:4422 malignant adenofibroma Disease_Ontology DOID:4423 DOID:4423 sea-blue histiocytosis Disease_Ontology DOID:4424 DOID:4424 juvenile xanthogranuloma Disease_Ontology DOID:4428 DOID:4428 dyslexia Disease_Ontology DOID:4430 DOID:4430 somatostatinoma Disease_Ontology DOID:4432 DOID:4432 pancreatic somatostatinoma Disease_Ontology DOID:4433 DOID:4433 pancreatic delta cell neoplasm Disease_Ontology DOID:4434 DOID:4434 small intestine neuroendocrine neoplasm Disease_Ontology DOID:4435 DOID:4435 cavernous sinus meningioma Disease_Ontology DOID:4436 DOID:4436 anterior cranial fossa meningioma Disease_Ontology DOID:4437 DOID:4437 skull base meningioma Disease_Ontology DOID:4438 DOID:4438 central nervous system germinoma Disease_Ontology DOID:4439 DOID:4439 central nervous system germ cell tumor Disease_Ontology DOID:4440 DOID:4440 seminoma Disease_Ontology DOID:4441 DOID:4441 dysgerminoma Disease_Ontology DOID:4442 DOID:4442 cervical alveolar soft part sarcoma Disease_Ontology DOID:4447 DOID:4447 cystoid macular edema Disease_Ontology DOID:4448 DOID:4448 macular degeneration Disease_Ontology DOID:4449 DOID:4449 macular retinal edema Disease_Ontology DOID:445 DOID:445 Bartter disease Disease_Ontology DOID:4450 DOID:4450 renal cell carcinoma Disease_Ontology DOID:4451 DOID:4451 renal carcinoma Disease_Ontology DOID:4454 DOID:4454 childhood kidney cell carcinoma Disease_Ontology DOID:4455 DOID:4455 hereditary renal cell carcinoma Disease_Ontology DOID:446 DOID:446 primary hyperaldosteronism Disease_Ontology DOID:4463 DOID:4463 multilocular clear cell renal cell carcinoma Disease_Ontology DOID:4464 DOID:4464 collecting duct carcinoma Disease_Ontology DOID:4465 DOID:4465 papillary renal cell carcinoma Disease_Ontology DOID:4467 DOID:4467 clear cell renal cell carcinoma Disease_Ontology DOID:4468 DOID:4468 clear cell adenocarcinoma Disease_Ontology DOID:447 DOID:447 renal tubular transport disease Disease_Ontology DOID:4471 DOID:4471 chromophobe renal cell carcinoma Disease_Ontology DOID:4472 DOID:4472 mucinous tubular and spindle renal cell carcinoma Disease_Ontology DOID:4473 DOID:4473 sarcomatoid renal cell carcinoma Disease_Ontology DOID:4479 DOID:4479 pseudohypoaldosteronism Disease_Ontology DOID:4480 DOID:4480 achondroplasia Disease_Ontology DOID:4481 DOID:4481 allergic rhinitis Disease_Ontology DOID:4483 DOID:4483 rhinitis Disease_Ontology DOID:4486 DOID:4486 malignant biphasic mesothelioma Disease_Ontology DOID:4488 DOID:4488 sarcomatoid mesothelioma Disease_Ontology DOID:4489 DOID:4489 malignant epithelial mesothelioma Disease_Ontology DOID:4490 DOID:4490 malignant peritoneal solitary fibrous tumor Disease_Ontology DOID:4491 DOID:4491 persian gulf syndrome Disease_Ontology DOID:4492 DOID:4492 avian influenza Disease_Ontology DOID:450 DOID:450 myotonic disease Disease_Ontology DOID:4500 DOID:4500 hypokalemia Disease_Ontology DOID:4501 DOID:4501 orofaciodigital syndrome Disease_Ontology DOID:4504 DOID:4504 central nervous system angiosarcoma Disease_Ontology DOID:4505 DOID:4505 childhood angiosarcoma Disease_Ontology DOID:4510 DOID:4510 aorta angiosarcoma Disease_Ontology DOID:4511 DOID:4511 breast angiosarcoma Disease_Ontology DOID:4512 DOID:4512 conventional angiosarcoma Disease_Ontology DOID:4513 DOID:4513 gallbladder angiosarcoma Disease_Ontology DOID:4514 DOID:4514 thyroid angiosarcoma Disease_Ontology DOID:4515 DOID:4515 thyroid sarcoma Disease_Ontology DOID:4517 DOID:4517 skin angiosarcoma Disease_Ontology DOID:452 DOID:452 pleomorphic adenoma Disease_Ontology DOID:4520 DOID:4520 cervical endometrial stromal sarcoma Disease_Ontology DOID:4521 DOID:4521 cervix endometrial stromal tumor Disease_Ontology DOID:4522 DOID:4522 superior vena cava angiosarcoma Disease_Ontology DOID:4524 DOID:4524 prostate angiosarcoma Disease_Ontology DOID:4525 DOID:4525 mediastinum angiosarcoma Disease_Ontology DOID:4527 DOID:4527 ovarian angiosarcoma Disease_Ontology DOID:4531 DOID:4531 mucoepidermoid carcinoma Disease_Ontology DOID:4534 DOID:4534 Hallermann-Streiff syndrome Disease_Ontology DOID:4535 DOID:4535 hypotrichosis Disease_Ontology DOID:4540 DOID:4540 dysgraphia Disease_Ontology DOID:4541 DOID:4541 nominal aphasia Disease_Ontology DOID:4542 DOID:4542 basophil adenoma Disease_Ontology DOID:4543 DOID:4543 retrograde amnesia Disease_Ontology DOID:4545 DOID:4545 mesenchymal chondrosarcoma Disease_Ontology DOID:4546 DOID:4546 childhood mesenchymal chondrosarcoma Disease_Ontology DOID:4547 DOID:4547 adult mesenchymal chondrosarcoma Disease_Ontology DOID:4548 DOID:4548 extraskeletal mesenchymal chondrosarcoma Disease_Ontology DOID:4549 DOID:4549 extraskeletal myxoid chondrosarcoma Disease_Ontology DOID:4550 DOID:4550 anal gland neoplasm Disease_Ontology DOID:4551 DOID:4551 anus benign neoplasm Disease_Ontology DOID:4552 DOID:4552 large cell carcinoma Disease_Ontology DOID:4553 DOID:4553 thymus large cell carcinoma Disease_Ontology DOID:4554 DOID:4554 type C thymoma Disease_Ontology DOID:4555 DOID:4555 ovarian large-cell neuroendocrine carcinoma Disease_Ontology DOID:4556 DOID:4556 lung large cell carcinoma Disease_Ontology DOID:4557 DOID:4557 oral leukoedema Disease_Ontology DOID:4558 DOID:4558 Ludwig's angina Disease_Ontology DOID:456 DOID:456 ascariasis Disease_Ontology DOID:4560 DOID:4560 non specific chronic endometritis Disease_Ontology DOID:4561 DOID:4561 granulomatous endometritis Disease_Ontology DOID:4562 DOID:4562 subacute bacterial endocarditis Disease_Ontology DOID:4584 DOID:4584 choroid plexus meningioma Disease_Ontology DOID:4586 DOID:4586 familial meningioma Disease_Ontology DOID:4587 DOID:4587 benign meningioma Disease_Ontology DOID:4588 DOID:4588 secretory meningioma Disease_Ontology DOID:4591 DOID:4591 lymphoplasmacyte-rich meningioma Disease_Ontology DOID:4593 DOID:4593 childhood meningioma Disease_Ontology DOID:4594 DOID:4594 microcystic meningioma Disease_Ontology DOID:4603 DOID:4603 epidermolytic hyperkeratosis Disease_Ontology DOID:4606 DOID:4606 bile duct cancer Disease_Ontology DOID:4607 DOID:4607 biliary tract cancer Disease_Ontology DOID:4608 DOID:4608 common bile duct neoplasm Disease_Ontology DOID:461 DOID:461 muscle benign neoplasm Disease_Ontology DOID:4610 DOID:4610 intestinal benign neoplasm Disease_Ontology DOID:4613 DOID:4613 ulnar neuropathy Disease_Ontology DOID:4617 DOID:4617 periapical granuloma Disease_Ontology DOID:4618 DOID:4618 maxillary cancer Disease_Ontology DOID:4621 DOID:4621 holoprosencephaly Disease_Ontology DOID:4624 DOID:4624 Ollier disease Disease_Ontology DOID:4626 DOID:4626 hydranencephaly Disease_Ontology DOID:4627 DOID:4627 ideomotor apraxia Disease_Ontology DOID:4630 DOID:4630 inverted transitional papilloma Disease_Ontology DOID:4633 DOID:4633 nasal cavity inverting papilloma Disease_Ontology DOID:4636 DOID:4636 submandibular adenitis Disease_Ontology DOID:4637 DOID:4637 cervical adenitis Disease_Ontology DOID:4638 DOID:4638 postauricular lymphadenitis Disease_Ontology DOID:4639 DOID:4639 suppurative lymphadenitis Disease_Ontology DOID:4640 DOID:4640 axillary adenitis Disease_Ontology DOID:4644 DOID:4644 epidermolysis bullosa simplex Disease_Ontology DOID:4645 DOID:4645 retinal cancer Disease_Ontology DOID:4647 DOID:4647 trilateral retinoblastoma Disease_Ontology DOID:4648 DOID:4648 familial retinoblastoma Disease_Ontology DOID:4650 DOID:4650 bilateral retinoblastoma Disease_Ontology DOID:4651 DOID:4651 unilateral retinoblastoma Disease_Ontology DOID:4653 DOID:4653 intraocular retinoblastoma Disease_Ontology DOID:4656 DOID:4656 extraocular retinoblastoma Disease_Ontology DOID:4658 DOID:4658 benign mastocytoma Disease_Ontology DOID:4659 DOID:4659 extracutaneous mastocytoma Disease_Ontology DOID:4660 DOID:4660 indolent systemic mastocytosis Disease_Ontology DOID:4661 DOID:4661 multiple chemical sensitivity Disease_Ontology DOID:4662 DOID:4662 thalamic disease Disease_Ontology DOID:4664 DOID:4664 filamentary keratitis Disease_Ontology DOID:4667 DOID:4667 kyphosis Disease_Ontology DOID:4668 DOID:4668 congenital kyphosis Disease_Ontology DOID:467 DOID:467 venous hemangioma Disease_Ontology DOID:4671 DOID:4671 freemartinism Disease_Ontology DOID:4674 DOID:4674 androgen insensitivity syndrome Disease_Ontology DOID:4675 DOID:4675 uremic neuropathy Disease_Ontology DOID:4676 DOID:4676 uremia Disease_Ontology DOID:4677 DOID:4677 keratitis Disease_Ontology DOID:4678 DOID:4678 thymus mucoepidermoid carcinoma Disease_Ontology DOID:4679 DOID:4679 breast mucoepidermoid carcinoma Disease_Ontology DOID:468 DOID:468 intramuscular hemangioma Disease_Ontology DOID:4680 DOID:4680 breast metaplastic carcinoma Disease_Ontology DOID:4681 DOID:4681 bile duct mucoepidermoid carcinoma Disease_Ontology DOID:4682 DOID:4682 extrahepatic bile duct carcinoma Disease_Ontology DOID:4683 DOID:4683 cutaneous mucoepidermoid carcinoma Disease_Ontology DOID:4685 DOID:4685 lacrimal gland mucoepidermoid carcinoma Disease_Ontology DOID:4686 DOID:4686 mucoepidermoid esophageal carcinoma Disease_Ontology DOID:4687 DOID:4687 thyroid gland mucoepidermoid carcinoma Disease_Ontology DOID:4688 DOID:4688 laryngeal mucoepidermoid carcinoma Disease_Ontology DOID:469 DOID:469 deep angioma Disease_Ontology DOID:4690 DOID:4690 childhood mediastinal neurogenic tumor Disease_Ontology DOID:4691 DOID:4691 malignant mediastinal neurogenic neoplasm Disease_Ontology DOID:4692 DOID:4692 endophthalmitis Disease_Ontology DOID:4693 DOID:4693 nerve plexus neoplasm Disease_Ontology DOID:4696 DOID:4696 intraneural perineurioma Disease_Ontology DOID:4697 DOID:4697 perineurioma Disease_Ontology DOID:4698 DOID:4698 nerve root neoplasm Disease_Ontology DOID:4699 DOID:4699 epicardium cancer Disease_Ontology DOID:47 DOID:47 prostate disease Disease_Ontology DOID:470 DOID:470 verrucous keratotic hemangioma Disease_Ontology DOID:4702 DOID:4702 mongolian spot Disease_Ontology DOID:4706 DOID:4706 infratentorial cancer Disease_Ontology DOID:4707 DOID:4707 cervicomedullary junction neoplasm Disease_Ontology DOID:4708 DOID:4708 foramen magnum meningioma Disease_Ontology DOID:471 DOID:471 skin hemangioma Disease_Ontology DOID:4715 DOID:4715 gastric neuroendocrine neoplasm Disease_Ontology DOID:4716 DOID:4716 malignant gastric germ cell tumor Disease_Ontology DOID:4717 DOID:4717 extragonadal germ cell cancer Disease_Ontology DOID:4719 DOID:4719 bone giant cell sarcoma Disease_Ontology DOID:472 DOID:472 subglottic angioma Disease_Ontology DOID:4723 DOID:4723 intracranial hypotension Disease_Ontology DOID:4724 DOID:4724 brain edema Disease_Ontology DOID:4730 DOID:4730 vasomotor rhinitis Disease_Ontology DOID:4731 DOID:4731 atrophic rhinitis Disease_Ontology DOID:4734 DOID:4734 calciphylaxis Disease_Ontology DOID:4737 DOID:4737 somatoform disorder Disease_Ontology DOID:4739 DOID:4739 testicular Brenner tumor Disease_Ontology DOID:474 DOID:474 histiocytoid hemangioma Disease_Ontology DOID:4743 DOID:4743 mixed testicular germ cell tumor Disease_Ontology DOID:4744 DOID:4744 placenta accreta Disease_Ontology DOID:4749 DOID:4749 middle cranial fossa meningioma Disease_Ontology DOID:4751 DOID:4751 striatonigral degeneration Disease_Ontology DOID:4752 DOID:4752 multiple system atrophy Disease_Ontology DOID:4756 DOID:4756 testicular Leydig cell tumor Disease_Ontology DOID:4757 DOID:4757 testicular sex cord-stromal neoplasm Disease_Ontology DOID:476 DOID:476 breast hemangioma Disease_Ontology DOID:4762 DOID:4762 vasculogenic impotence Disease_Ontology DOID:4765 DOID:4765 pulmonary blastoma Disease_Ontology DOID:4766 DOID:4766 embryoma Disease_Ontology DOID:4767 DOID:4767 classic pulmonary blastoma Disease_Ontology DOID:4768 DOID:4768 epithelial predominant pulmonary blastoma Disease_Ontology DOID:4769 DOID:4769 pleuropulmonary blastoma Disease_Ontology DOID:4773 DOID:4773 congenital mesoblastic nephroma Disease_Ontology DOID:4776 DOID:4776 rapidly progressive glomerulonephritis Disease_Ontology DOID:4777 DOID:4777 exudative glomerulonephritis Disease_Ontology DOID:4778 DOID:4778 proliferative glomerulonephritis Disease_Ontology DOID:4779 DOID:4779 focal embolic glomerulonephritis Disease_Ontology DOID:4780 DOID:4780 anti-basement membrane glomerulonephritis Disease_Ontology DOID:4781 DOID:4781 diffuse glomerulonephritis Disease_Ontology DOID:4782 DOID:4782 subacute glomerulonephritis Disease_Ontology DOID:4783 DOID:4783 mesangial proliferative glomerulonephritis Disease_Ontology DOID:4784 DOID:4784 immune-complex glomerulonephritis Disease_Ontology DOID:4787 DOID:4787 cerebellopontine angle primitive neuroectodermal tumor Disease_Ontology DOID:4788 DOID:4788 intracranial primitive neuroectodermal tumor Disease_Ontology DOID:479 DOID:479 angiokeratoma Disease_Ontology DOID:4790 DOID:4790 medulloepithelioma Disease_Ontology DOID:4791 DOID:4791 supratentorial primitive neuroectodermal tumor Disease_Ontology DOID:4795 DOID:4795 GM2 gangliosidosis, AB variant Disease_Ontology DOID:4796 DOID:4796 space motion sickness Disease_Ontology DOID:4797 DOID:4797 SM-AHNMD Disease_Ontology DOID:4798 DOID:4798 aggressive systemic mastocytosis Disease_Ontology DOID:48 DOID:48 male reproductive system disease Disease_Ontology DOID:480 DOID:480 movement disease Disease_Ontology DOID:4810 DOID:4810 cerebrotendinous xanthomatosis Disease_Ontology DOID:4812 DOID:4812 adult brainstem gliosarcoma Disease_Ontology DOID:4813 DOID:4813 adult brain stem glioma Disease_Ontology DOID:4817 DOID:4817 ganglioneuroma Disease_Ontology DOID:482 DOID:482 hemangioma of peripheral nerve Disease_Ontology DOID:4829 DOID:4829 adenosquamous lung carcinoma Disease_Ontology DOID:483 DOID:483 cavernous hemangioma Disease_Ontology DOID:4830 DOID:4830 adenosquamous carcinoma Disease_Ontology DOID:4837 DOID:4837 Gorham's disease Disease_Ontology DOID:4838 DOID:4838 myoepithelial carcinoma Disease_Ontology DOID:4839 DOID:4839 sebaceous adenocarcinoma Disease_Ontology DOID:484 DOID:484 vascular hemostatic disease Disease_Ontology DOID:4840 DOID:4840 sebaceous carcinoma Disease_Ontology DOID:4843 DOID:4843 subependymal glioma Disease_Ontology DOID:4844 DOID:4844 benign ependymoma Disease_Ontology DOID:4845 DOID:4845 pilomyxoid astrocytoma Disease_Ontology DOID:4846 DOID:4846 cauda equina intradural extramedullary astrocytoma Disease_Ontology DOID:4847 DOID:4847 cauda equina neoplasm Disease_Ontology DOID:4848 DOID:4848 cerebellar astrocytoma Disease_Ontology DOID:4851 DOID:4851 pilocytic astrocytoma Disease_Ontology DOID:4852 DOID:4852 pleomorphic xanthoastrocytoma Disease_Ontology DOID:4853 DOID:4853 pilocytic astrocytoma of cerebellum Disease_Ontology DOID:4855 DOID:4855 diencephalic astrocytoma Disease_Ontology DOID:4856 DOID:4856 gliofibroma Disease_Ontology DOID:4857 DOID:4857 diffuse astrocytoma Disease_Ontology DOID:4858 DOID:4858 pineal gland astrocytoma Disease_Ontology DOID:486 DOID:486 glomeruloid hemangioma Disease_Ontology DOID:4860 DOID:4860 brain stem astrocytic neoplasm Disease_Ontology DOID:4863 DOID:4863 spinal cord astrocytoma Disease_Ontology DOID:4866 DOID:4866 salivary gland adenoid cystic carcinoma Disease_Ontology DOID:4867 DOID:4867 cervical adenoid cystic carcinoma Disease_Ontology DOID:4868 DOID:4868 prostate adenoid cystic carcinoma Disease_Ontology DOID:4869 DOID:4869 laryngeal adenoid cystic carcinoma Disease_Ontology DOID:4870 DOID:4870 lacrimal gland adenoid cystic carcinoma Disease_Ontology DOID:4871 DOID:4871 cutaneous adenocystic carcinoma Disease_Ontology DOID:4872 DOID:4872 lung adenoid cystic carcinoma Disease_Ontology DOID:4873 DOID:4873 anterior horn cell disease Disease_Ontology DOID:4875 DOID:4875 trachea adenoid cystic carcinoma Disease_Ontology DOID:4876 DOID:4876 trachea carcinoma Disease_Ontology DOID:4877 DOID:4877 breast adenoid cystic carcinoma Disease_Ontology DOID:4878 DOID:4878 esophageal adenoid cystic carcinoma Disease_Ontology DOID:4879 DOID:4879 Bartholin's gland adenoid cystic carcinoma Disease_Ontology DOID:4880 DOID:4880 kidney clear cell sarcoma Disease_Ontology DOID:4885 DOID:4885 Colorado tick fever Disease_Ontology DOID:4889 DOID:4889 lymph node tuberculosis Disease_Ontology DOID:4890 DOID:4890 juvenile myoclonic epilepsy Disease_Ontology DOID:4892 DOID:4892 middle ear adenocarcinoma Disease_Ontology DOID:4893 DOID:4893 middle ear carcinoma Disease_Ontology DOID:4894 DOID:4894 rete ovarii adenocarcinoma Disease_Ontology DOID:4895 DOID:4895 rete ovarii benign neoplasm Disease_Ontology DOID:4896 DOID:4896 bile duct adenocarcinoma Disease_Ontology DOID:4897 DOID:4897 bile duct carcinoma Disease_Ontology DOID:490 DOID:490 hemangioma of lung Disease_Ontology DOID:4901 DOID:4901 peritoneal serous adenocarcinoma Disease_Ontology DOID:4902 DOID:4902 appendix carcinoma Disease_Ontology DOID:4903 DOID:4903 granular cell carcinoma Disease_Ontology DOID:4905 DOID:4905 pancreatic carcinoma Disease_Ontology DOID:4906 DOID:4906 small intestine adenocarcinoma Disease_Ontology DOID:4907 DOID:4907 small intestine carcinoma Disease_Ontology DOID:4908 DOID:4908 anal carcinoma Disease_Ontology DOID:4910 DOID:4910 urethra adenocarcinoma Disease_Ontology DOID:4914 DOID:4914 esophagus adenocarcinoma Disease_Ontology DOID:4915 DOID:4915 basophilic adenocarcinoma Disease_Ontology DOID:4916 DOID:4916 pituitary carcinoma Disease_Ontology DOID:4917 DOID:4917 villous adenocarcinoma Disease_Ontology DOID:4918 DOID:4918 renal pelvis adenocarcinoma Disease_Ontology DOID:4919 DOID:4919 renal pelvis carcinoma Disease_Ontology DOID:492 DOID:492 acquired hemangioma Disease_Ontology DOID:4920 DOID:4920 eccrine adenocarcinoma Disease_Ontology DOID:4921 DOID:4921 eccrine sweat gland cancer Disease_Ontology DOID:4922 DOID:4922 breast secretory carcinoma Disease_Ontology DOID:4923 DOID:4923 thymus adenocarcinoma Disease_Ontology DOID:4926 DOID:4926 bronchiolo-alveolar adenocarcinoma Disease_Ontology DOID:4927 DOID:4927 Klatskin's tumor Disease_Ontology DOID:4928 DOID:4928 intrahepatic cholangiocarcinoma Disease_Ontology DOID:4929 DOID:4929 tubular adenocarcinoma Disease_Ontology DOID:4930 DOID:4930 nasal cavity adenocarcinoma Disease_Ontology DOID:4931 DOID:4931 nasal cavity carcinoma Disease_Ontology DOID:4932 DOID:4932 ampulla of Vater carcinoma Disease_Ontology DOID:4933 DOID:4933 apocrine carcinoma Disease_Ontology DOID:4934 DOID:4934 apocrine sweat gland cancer Disease_Ontology DOID:4938 DOID:4938 ureter adenocarcinoma Disease_Ontology DOID:4939 DOID:4939 ureter carcinoma Disease_Ontology DOID:4943 DOID:4943 adenocarcinoma in situ Disease_Ontology DOID:4944 DOID:4944 gastroesophageal junction adenocarcinoma Disease_Ontology DOID:4947 DOID:4947 cholangiocarcinoma Disease_Ontology DOID:4948 DOID:4948 gallbladder carcinoma Disease_Ontology DOID:495 DOID:495 sclerosing hemangioma Disease_Ontology DOID:4952 DOID:4952 postpoliomyelitis syndrome Disease_Ontology DOID:4953 DOID:4953 poliomyelitis Disease_Ontology DOID:4955 DOID:4955 central nervous system melanocytic neoplasm Disease_Ontology DOID:4957 DOID:4957 meninges hemangiopericytoma Disease_Ontology DOID:4959 DOID:4959 epidermolysis bullosa dystrophica Disease_Ontology DOID:496 DOID:496 spindle cell hemangioma Disease_Ontology DOID:4960 DOID:4960 bone marrow cancer Disease_Ontology DOID:4961 DOID:4961 bone marrow disease Disease_Ontology DOID:4962 DOID:4962 pericardial tuberculosis Disease_Ontology DOID:4964 DOID:4964 neurotic disorder Disease_Ontology DOID:4968 DOID:4968 Nelson syndrome Disease_Ontology DOID:4969 DOID:4969 Gerstmann syndrome Disease_Ontology DOID:4970 DOID:4970 prosopagnosia Disease_Ontology DOID:4971 DOID:4971 myelofibrosis Disease_Ontology DOID:4972 DOID:4972 myelodysplastic/myeloproliferative neoplasm Disease_Ontology DOID:4974 DOID:4974 actinobacillosis Disease_Ontology DOID:4976 DOID:4976 elephantiasis Disease_Ontology DOID:4977 DOID:4977 lymphedema Disease_Ontology DOID:4985 DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor Disease_Ontology DOID:4986 DOID:4986 nonparalytic poliomyelitis Disease_Ontology DOID:4988 DOID:4988 alcoholic pancreatitis Disease_Ontology DOID:4989 DOID:4989 pancreatitis Disease_Ontology DOID:4990 DOID:4990 essential tremor Disease_Ontology DOID:4991 DOID:4991 optic nerve astrocytoma Disease_Ontology DOID:4992 DOID:4992 optic nerve glioma Disease_Ontology DOID:4993 DOID:4993 atypical polypoid adenomyoma Disease_Ontology DOID:4994 DOID:4994 adenomyoma of uterine corpus Disease_Ontology DOID:4995 DOID:4995 cervical adenomyoma Disease_Ontology DOID:4997 DOID:4997 Camurati-Engelmann disease Disease_Ontology DOID:4998 DOID:4998 trichorhinophalangeal syndrome type II Disease_Ontology DOID:50 DOID:50 thyroid gland disease Disease_Ontology DOID:5003 DOID:5003 eunuchism Disease_Ontology DOID:501 DOID:501 central nervous system hemangioma Disease_Ontology DOID:5015 DOID:5015 fibrolamellar carcinoma Disease_Ontology DOID:5016 DOID:5016 hepatocellular clear cell carcinoma Disease_Ontology DOID:502 DOID:502 central nervous system mesenchymal non-meningothelial tumor Disease_Ontology DOID:5022 DOID:5022 aflatoxins-related hepatocellular carcinoma Disease_Ontology DOID:5026 DOID:5026 sclerosing hepatic carcinoma Disease_Ontology DOID:5030 DOID:5030 pineal parenchymal tumor of intermediate differentiation Disease_Ontology DOID:5031 DOID:5031 adult pineal parenchymal tumor Disease_Ontology DOID:5032 DOID:5032 pineal gland cancer Disease_Ontology DOID:5039 DOID:5039 myoblastoma Disease_Ontology DOID:5040 DOID:5040 malignant granular cell esophageal tumor Disease_Ontology DOID:5041 DOID:5041 esophageal cancer Disease_Ontology DOID:5042 DOID:5042 malignant granular cell myoblastoma Disease_Ontology DOID:5043 DOID:5043 vulvar granular cell tumor Disease_Ontology DOID:5044 DOID:5044 cardiac granular cell neoplasm Disease_Ontology DOID:5046 DOID:5046 mediastinal granular cell myoblastoma Disease_Ontology DOID:5047 DOID:5047 granular cell tumor of the sellar region Disease_Ontology DOID:5048 DOID:5048 posterior pituitary gland neoplasm Disease_Ontology DOID:505 DOID:505 hobnail hemangioma Disease_Ontology DOID:5050 DOID:5050 Ehrlich tumor carcinoma Disease_Ontology DOID:5052 DOID:5052 melioidosis Disease_Ontology DOID:5056 DOID:5056 adult cerebellar neoplasm Disease_Ontology DOID:5057 DOID:5057 papillary meningioma of the cerebellum Disease_Ontology DOID:5058 DOID:5058 rhabdoid meningioma Disease_Ontology DOID:5059 DOID:5059 childhood cerebellar neoplasm Disease_Ontology DOID:5062 DOID:5062 phencyclidine abuse Disease_Ontology DOID:5063 DOID:5063 basosquamous carcinoma Disease_Ontology DOID:507 DOID:507 adjustment disorder Disease_Ontology DOID:5074 DOID:5074 high grade ependymoma Disease_Ontology DOID:5075 DOID:5075 myxopapillary ependymoma Disease_Ontology DOID:5076 DOID:5076 mixed glioma Disease_Ontology DOID:5077 DOID:5077 subependymal giant cell astrocytoma Disease_Ontology DOID:5078 DOID:5078 ganglioglioma Disease_Ontology DOID:5082 DOID:5082 liver cirrhosis Disease_Ontology DOID:5083 DOID:5083 iodine hypothyroidism Disease_Ontology DOID:5088 DOID:5088 mixed epithelial stromal tumour Disease_Ontology DOID:5090 DOID:5090 sternum cancer Disease_Ontology DOID:5093 DOID:5093 thoracic cancer Disease_Ontology DOID:5099 DOID:5099 middle ear cancer Disease_Ontology DOID:5100 DOID:5100 middle ear disease Disease_Ontology DOID:5101 DOID:5101 ear cancer Disease_Ontology DOID:5102 DOID:5102 inner ear cancer Disease_Ontology DOID:5104 DOID:5104 testicular infarct Disease_Ontology DOID:5112 DOID:5112 copper deficiency myelopathy Disease_Ontology DOID:5113 DOID:5113 nutritional deficiency disease Disease_Ontology DOID:5117 DOID:5117 dermoid cyst of ovary Disease_Ontology DOID:5118 DOID:5118 ovarian cystic teratoma Disease_Ontology DOID:5119 DOID:5119 ovarian cyst Disease_Ontology DOID:512 DOID:512 epididymal neoplasm Disease_Ontology DOID:5123 DOID:5123 mediastinum leiomyoma Disease_Ontology DOID:5124 DOID:5124 fallopian tube leiomyoma Disease_Ontology DOID:5125 DOID:5125 extrahepatic bile duct leiomyoma Disease_Ontology DOID:5126 DOID:5126 central nervous system leiomyoma Disease_Ontology DOID:5127 DOID:5127 bizarre leiomyoma Disease_Ontology DOID:5128 DOID:5128 deep leiomyoma Disease_Ontology DOID:5129 DOID:5129 simple partial epilepsy Disease_Ontology DOID:5132 DOID:5132 leiomyoma cutis Disease_Ontology DOID:5134 DOID:5134 anus leiomyoma Disease_Ontology DOID:5136 DOID:5136 lung leiomyoma Disease_Ontology DOID:5137 DOID:5137 pericardium leiomyoma Disease_Ontology DOID:5138 DOID:5138 leiomyomatosis Disease_Ontology DOID:5139 DOID:5139 cellular leiomyoma Disease_Ontology DOID:5140 DOID:5140 gallbladder leiomyoma Disease_Ontology DOID:5142 DOID:5142 vulvar leiomyoma Disease_Ontology DOID:5143 DOID:5143 large bowel leiomyoma Disease_Ontology DOID:5146 DOID:5146 appendix leiomyoma Disease_Ontology DOID:5147 DOID:5147 dartoic leiomyoma Disease_Ontology DOID:5149 DOID:5149 epithelioid neurofibroma Disease_Ontology DOID:5150 DOID:5150 neurofibroma of gallbladder Disease_Ontology DOID:5151 DOID:5151 plexiform neurofibroma Disease_Ontology DOID:5152 DOID:5152 cellular neurofibroma Disease_Ontology DOID:5153 DOID:5153 atypical neurofibroma Disease_Ontology DOID:5154 DOID:5154 borna disease Disease_Ontology DOID:5155 DOID:5155 multiple mucosal neuroma Disease_Ontology DOID:5157 DOID:5157 benign pleural mesothelioma Disease_Ontology DOID:5158 DOID:5158 pleural cancer Disease_Ontology DOID:5160 DOID:5160 arteriosclerosis obliterans Disease_Ontology DOID:5161 DOID:5161 Monckeberg arteriosclerosis Disease_Ontology DOID:5162 DOID:5162 arteriolosclerosis Disease_Ontology DOID:5165 DOID:5165 uterine corpus sarcoma Disease_Ontology DOID:5166 DOID:5166 endometrial stromal tumor Disease_Ontology DOID:5169 DOID:5169 ovarian endometrioid stromal sarcoma Disease_Ontology DOID:5170 DOID:5170 vaginal endometrial stromal sarcoma Disease_Ontology DOID:5171 DOID:5171 vaginal endometrial stromal tumor Disease_Ontology DOID:5172 DOID:5172 endometrium carcinoma in situ Disease_Ontology DOID:5176 DOID:5176 renal Wilms' tumor Disease_Ontology DOID:5178 DOID:5178 metachronous kidney Wilms' tumor Disease_Ontology DOID:5179 DOID:5179 mixed cell type kidney Wilms' tumor Disease_Ontology DOID:518 DOID:518 scrotum neoplasm Disease_Ontology DOID:5182 DOID:5182 blastema predominant kidney Wilms' tumor Disease_Ontology DOID:5183 DOID:5183 hereditary Wilms' tumor Disease_Ontology DOID:5189 DOID:5189 epithelial predominant Wilms' tumor Disease_Ontology DOID:519 DOID:519 aortitis Disease_Ontology DOID:5190 DOID:5190 cervical Wilms' tumor Disease_Ontology DOID:5191 DOID:5191 stromal predominant kidney Wilms' tumor Disease_Ontology DOID:5193 DOID:5193 nodular ganglioneuroblastoma Disease_Ontology DOID:5194 DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma Disease_Ontology DOID:5195 DOID:5195 peripheral nervous system ganglioneuroblastoma Disease_Ontology DOID:5196 DOID:5196 fallopian tube adenomatoid tumor Disease_Ontology DOID:5199 DOID:5199 ureteral obstruction Disease_Ontology DOID:520 DOID:520 aortic disease Disease_Ontology DOID:5200 DOID:5200 urinary tract obstruction Disease_Ontology DOID:5204 DOID:5204 fructose-1,6-bisphosphatase deficiency Disease_Ontology DOID:5207 DOID:5207 monodermal teratoma Disease_Ontology DOID:5208 DOID:5208 malignant struma ovarii Disease_Ontology DOID:5212 DOID:5212 congenital disorder of glycosylation Disease_Ontology DOID:5213 DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy Disease_Ontology DOID:5214 DOID:5214 demyelinating polyneuropathy Disease_Ontology DOID:5221 DOID:5221 chronic polyneuropathy Disease_Ontology DOID:5222 DOID:5222 acute necrotizing encephalitis Disease_Ontology DOID:5223 DOID:5223 infertility Disease_Ontology DOID:5224 DOID:5224 acute hemorrhagic encephalitis Disease_Ontology DOID:5225 DOID:5225 von Economo's disease Disease_Ontology DOID:5230 DOID:5230 hepatoerythropoietic porphyria Disease_Ontology DOID:5232 DOID:5232 aortic valve prolapse Disease_Ontology DOID:5233 DOID:5233 glomangiosarcoma Disease_Ontology DOID:5236 DOID:5236 subungual glomus tumor Disease_Ontology DOID:5238 DOID:5238 benign perivascular tumor Disease_Ontology DOID:5240 DOID:5240 retinal hemangioblastoma Disease_Ontology DOID:5241 DOID:5241 hemangioblastoma Disease_Ontology DOID:525 DOID:525 central nervous system vasculitis Disease_Ontology DOID:5251 DOID:5251 inflammatory leiomyosarcoma Disease_Ontology DOID:5253 DOID:5253 conventional leiomyosarcoma Disease_Ontology DOID:5254 DOID:5254 central nervous system leiomyosarcoma Disease_Ontology DOID:5258 DOID:5258 granular cell leiomyosarcoma Disease_Ontology DOID:5259 DOID:5259 colon leiomyosarcoma Disease_Ontology DOID:526 DOID:526 human immunodeficiency virus infectious disease Disease_Ontology DOID:5260 DOID:5260 colon sarcoma Disease_Ontology DOID:5261 DOID:5261 heart leiomyosarcoma Disease_Ontology DOID:5262 DOID:5262 heart sarcoma Disease_Ontology DOID:5263 DOID:5263 ovary leiomyosarcoma Disease_Ontology DOID:5264 DOID:5264 epithelioid leiomyosarcoma Disease_Ontology DOID:5265 DOID:5265 lung leiomyosarcoma Disease_Ontology DOID:5267 DOID:5267 anus leiomyosarcoma Disease_Ontology DOID:5268 DOID:5268 myxoid leiomyosarcoma Disease_Ontology DOID:5271 DOID:5271 small intestine leiomyosarcoma Disease_Ontology DOID:5272 DOID:5272 small intestinal sarcoma Disease_Ontology DOID:5273 DOID:5273 cutaneous leiomyosarcoma Disease_Ontology DOID:5274 DOID:5274 malignant dermis tumor Disease_Ontology DOID:5275 DOID:5275 gallbladder leiomyosarcoma Disease_Ontology DOID:5276 DOID:5276 esophagus leiomyosarcoma Disease_Ontology DOID:528 DOID:528 hydrarthrosis Disease_Ontology DOID:5280 DOID:5280 gastric leiomyosarcoma Disease_Ontology DOID:5282 DOID:5282 prostate leiomyosarcoma Disease_Ontology DOID:5283 DOID:5283 vagina leiomyosarcoma Disease_Ontology DOID:5284 DOID:5284 retroperitoneal leiomyosarcoma Disease_Ontology DOID:5285 DOID:5285 breast leiomyosarcoma Disease_Ontology DOID:5286 DOID:5286 vulvar leiomyosarcoma Disease_Ontology DOID:5287 DOID:5287 kidney leiomyosarcoma Disease_Ontology DOID:5288 DOID:5288 larynx leiomyosarcoma Disease_Ontology DOID:5289 DOID:5289 uterus leiomyosarcoma Disease_Ontology DOID:529 DOID:529 blepharospasm Disease_Ontology DOID:5292 DOID:5292 mediastinum leiomyosarcoma Disease_Ontology DOID:5293 DOID:5293 extrahepatic bile duct leiomyosarcoma Disease_Ontology DOID:5295 DOID:5295 intestinal disease Disease_Ontology DOID:5296 DOID:5296 liver leiomyosarcoma Disease_Ontology DOID:5297 DOID:5297 rectum leiomyosarcoma Disease_Ontology DOID:5299 DOID:5299 endometrial clear cell adenocarcinoma Disease_Ontology DOID:53 DOID:53 pituitary gland disease Disease_Ontology DOID:530 DOID:530 eyelid disease Disease_Ontology DOID:5301 DOID:5301 fallopian tube clear cell adenocarcinoma Disease_Ontology DOID:5302 DOID:5302 uterine ligament clear cell adenocarcinoma Disease_Ontology DOID:5303 DOID:5303 cervical clear cell adenocarcinoma Disease_Ontology DOID:5304 DOID:5304 ovarian clear cell adenocarcinoma Disease_Ontology DOID:5306 DOID:5306 bladder clear cell adenocarcinoma Disease_Ontology DOID:5307 DOID:5307 urethra clear cell adenocarcinoma Disease_Ontology DOID:5308 DOID:5308 ampulla of Vater clear cell adenocarcinoma Disease_Ontology DOID:5309 DOID:5309 epithelial-myoepithelial carcinoma Disease_Ontology DOID:5310 DOID:5310 glycogen-rich clear cell breast carcinoma Disease_Ontology DOID:5313 DOID:5313 vulvar alveolar soft part sarcoma Disease_Ontology DOID:5324 DOID:5324 fallopian tube germ cell cancer Disease_Ontology DOID:5325 DOID:5325 Roberts syndrome Disease_Ontology DOID:5327 DOID:5327 retinal detachment Disease_Ontology DOID:533 DOID:533 thymus gland disease Disease_Ontology DOID:5330 DOID:5330 dental pulp disease Disease_Ontology DOID:5331 DOID:5331 testicular granulosa cell tumor Disease_Ontology DOID:5334 DOID:5334 paraphimosis Disease_Ontology DOID:5337 DOID:5337 epulis Disease_Ontology DOID:5338 DOID:5338 gingival hypertrophy Disease_Ontology DOID:5339 DOID:5339 cyclic hematopoiesis Disease_Ontology DOID:5340 DOID:5340 anterograde amnesia Disease_Ontology DOID:5341 DOID:5341 pineal region yolk sac tumor Disease_Ontology DOID:5342 DOID:5342 childhood endodermal sinus tumor Disease_Ontology DOID:5343 DOID:5343 central nervous system endodermal sinus tumor Disease_Ontology DOID:5344 DOID:5344 testicular yolk sac tumor Disease_Ontology DOID:5345 DOID:5345 testicular non-seminomatous germ cell cancer Disease_Ontology DOID:5348 DOID:5348 adult endodermal sinus tumor Disease_Ontology DOID:5349 DOID:5349 central nervous system adult germ cell tumor Disease_Ontology DOID:535 DOID:535 sleep disorder Disease_Ontology DOID:5350 DOID:5350 ovarian endodermal sinus tumor Disease_Ontology DOID:5351 DOID:5351 ovarian primitive germ cell tumor Disease_Ontology DOID:5353 DOID:5353 colonic disease Disease_Ontology DOID:5362 DOID:5362 focal epithelial hyperplasia Disease_Ontology DOID:5363 DOID:5363 myxoid liposarcoma Disease_Ontology DOID:5364 DOID:5364 pulmonary coin lesion Disease_Ontology DOID:5368 DOID:5368 Wolffian duct adenocarcinoma Disease_Ontology DOID:5370 DOID:5370 breast hemangiopericytoma Disease_Ontology DOID:5373 DOID:5373 retroperitoneal hemangiopericytoma Disease_Ontology DOID:5374 DOID:5374 pilomatrixoma Disease_Ontology DOID:5375 DOID:5375 hair follicle neoplasm Disease_Ontology DOID:5376 DOID:5376 skin pilomatrix carcinoma Disease_Ontology DOID:5378 DOID:5378 hemoglobin D disease Disease_Ontology DOID:5379 DOID:5379 hemoglobin E disease Disease_Ontology DOID:538 DOID:538 internuclear ophthalmoplegia Disease_Ontology DOID:5381 DOID:5381 bile duct adenoma Disease_Ontology DOID:5382 DOID:5382 Bartholin's gland adenoma Disease_Ontology DOID:5384 DOID:5384 bile duct cystadenoma Disease_Ontology DOID:5385 DOID:5385 mixed cell adenoma Disease_Ontology DOID:5386 DOID:5386 lung adenoma Disease_Ontology DOID:5387 DOID:5387 middle ear adenoma Disease_Ontology DOID:5389 DOID:5389 oxyphilic adenoma Disease_Ontology DOID:539 DOID:539 ophthalmoplegia Disease_Ontology DOID:5390 DOID:5390 clear cell adenoma Disease_Ontology DOID:5391 DOID:5391 bronchus adenoma Disease_Ontology DOID:5392 DOID:5392 acidophil adenoma Disease_Ontology DOID:5393 DOID:5393 brain angioma Disease_Ontology DOID:5394 DOID:5394 prolactinoma Disease_Ontology DOID:5395 DOID:5395 functioning pituitary adenoma Disease_Ontology DOID:5396 DOID:5396 prolactin producing pituitary tumor Disease_Ontology DOID:5398 DOID:5398 lipoadenoma Disease_Ontology DOID:540 DOID:540 strabismus Disease_Ontology DOID:5401 DOID:5401 water-clear cell adenoma Disease_Ontology DOID:5402 DOID:5402 vaginal adenoma Disease_Ontology DOID:5403 DOID:5403 microcystic adenoma Disease_Ontology DOID:5408 DOID:5408 Paget disease of bone Disease_Ontology DOID:5409 DOID:5409 lung small cell carcinoma Disease_Ontology DOID:5410 DOID:5410 pulmonary neuroendocrine tumor Disease_Ontology DOID:5411 DOID:5411 lung oat cell carcinoma Disease_Ontology DOID:5414 DOID:5414 lung occult small cell carcinoma Disease_Ontology DOID:5418 DOID:5418 schizoaffective disorder Disease_Ontology DOID:5419 DOID:5419 schizophrenia Disease_Ontology DOID:5421 DOID:5421 lung combined type small cell carcinoma Disease_Ontology DOID:5425 DOID:5425 ovarian hyperstimulation syndrome Disease_Ontology DOID:5426 DOID:5426 primary ovarian insufficiency Disease_Ontology DOID:5427 DOID:5427 urinary bladder villous adenoma Disease_Ontology DOID:5429 DOID:5429 bladder flat intraepithelial lesion Disease_Ontology DOID:543 DOID:543 dystonia Disease_Ontology DOID:5432 DOID:5432 bladder papillary transitional cell neoplasm Disease_Ontology DOID:5433 DOID:5433 urinary tract papillary transitional cell benign neoplasm Disease_Ontology DOID:5434 DOID:5434 scrapie Disease_Ontology DOID:5435 DOID:5435 variant Creutzfeldt-Jakob disease Disease_Ontology DOID:5437 DOID:5437 intrahepatic bile duct adenoma Disease_Ontology DOID:5438 DOID:5438 extrahepatic bile duct adenoma Disease_Ontology DOID:5439 DOID:5439 papillary hidradenoma Disease_Ontology DOID:5442 DOID:5442 eccrine acrospiroma Disease_Ontology DOID:5443 DOID:5443 clear cell hidradenoma Disease_Ontology DOID:5444 DOID:5444 spiradenoma Disease_Ontology DOID:5445 DOID:5445 syringocystadenoma papilliferum Disease_Ontology DOID:5446 DOID:5446 eccrine papillary adenoma Disease_Ontology DOID:5453 DOID:5453 pulmonary venoocclusive disease Disease_Ontology DOID:5457 DOID:5457 laryngeal neuroendocrine tumor Disease_Ontology DOID:5463 DOID:5463 cochlear disease Disease_Ontology DOID:5465 DOID:5465 conjunctival intraepithelial neoplasm Disease_Ontology DOID:5467 DOID:5467 conjunctival cancer Disease_Ontology DOID:5468 DOID:5468 biliary papillomatosis Disease_Ontology DOID:5469 DOID:5469 biliary tract intraductal papillary mucinous neoplasm Disease_Ontology DOID:5474 DOID:5474 ovarian serous adenofibroma Disease_Ontology DOID:5475 DOID:5475 uterine corpus adenofibroma Disease_Ontology DOID:5476 DOID:5476 cervical adenofibroma Disease_Ontology DOID:5477 DOID:5477 clear cell adenofibroma Disease_Ontology DOID:5478 DOID:5478 fallopian tube adenofibroma Disease_Ontology DOID:5479 DOID:5479 papillary adenofibroma Disease_Ontology DOID:5480 DOID:5480 ovarian endometrioid adenofibroma Disease_Ontology DOID:5482 DOID:5482 cystadenofibroma Disease_Ontology DOID:5484 DOID:5484 fibrous synovial sarcoma Disease_Ontology DOID:5485 DOID:5485 synovial sarcoma Disease_Ontology DOID:5487 DOID:5487 spindle cell synovial sarcoma Disease_Ontology DOID:5488 DOID:5488 mediastinum synovial sarcoma Disease_Ontology DOID:5492 DOID:5492 biphasic synovial sarcoma Disease_Ontology DOID:5494 DOID:5494 epithelioid cell synovial sarcoma Disease_Ontology DOID:5495 DOID:5495 monophasic synovial sarcoma Disease_Ontology DOID:5500 DOID:5500 cellular ependymoma Disease_Ontology DOID:5501 DOID:5501 Pediculus humanus capitis infestation Disease_Ontology DOID:5502 DOID:5502 lice infestation Disease_Ontology DOID:5503 DOID:5503 spinal cord ependymoma Disease_Ontology DOID:5504 DOID:5504 tanycytic ependymoma Disease_Ontology DOID:5505 DOID:5505 papillary ependymoma Disease_Ontology DOID:5507 DOID:5507 clear cell ependymoma Disease_Ontology DOID:5508 DOID:5508 brain stem ependymoma Disease_Ontology DOID:5509 DOID:5509 childhood ependymoma Disease_Ontology DOID:551 DOID:551 toxic pneumonitis Disease_Ontology DOID:5510 DOID:5510 pineal dysgerminoma Disease_Ontology DOID:5511 DOID:5511 dysgerminoma of ovary Disease_Ontology DOID:5513 DOID:5513 Pediculus humanus corporis infestation Disease_Ontology DOID:5514 DOID:5514 breast squamous cell carcinoma Disease_Ontology DOID:5515 DOID:5515 nasal cavity squamous cell carcinoma Disease_Ontology DOID:5516 DOID:5516 gastric squamous cell carcinoma Disease_Ontology DOID:5517 DOID:5517 stomach carcinoma Disease_Ontology DOID:5518 DOID:5518 penis squamous cell carcinoma Disease_Ontology DOID:5519 DOID:5519 colon squamous cell carcinoma Disease_Ontology DOID:552 DOID:552 pneumonia Disease_Ontology DOID:5520 DOID:5520 head and neck squamous cell carcinoma Disease_Ontology DOID:5521 DOID:5521 keratinizing squamous cell carcinoma Disease_Ontology DOID:5522 DOID:5522 basaloid squamous cell carcinoma Disease_Ontology DOID:5524 DOID:5524 adenoid squamous cell carcinoma Disease_Ontology DOID:5525 DOID:5525 anal squamous cell carcinoma Disease_Ontology DOID:5526 DOID:5526 middle ear squamous cell carcinoma Disease_Ontology DOID:5527 DOID:5527 ampulla of Vater squamous cell carcinoma Disease_Ontology DOID:5528 DOID:5528 rectum squamous cell carcinoma Disease_Ontology DOID:5529 DOID:5529 lacrimal gland squamous cell carcinoma Disease_Ontology DOID:5530 DOID:5530 thymus squamous cell carcinoma Disease_Ontology DOID:5531 DOID:5531 ovarian squamous cell carcinoma Disease_Ontology DOID:5533 DOID:5533 endometrial squamous cell carcinoma Disease_Ontology DOID:5534 DOID:5534 renal pelvis squamous cell carcinoma Disease_Ontology DOID:5535 DOID:5535 gallbladder squamous cell carcinoma Disease_Ontology DOID:5536 DOID:5536 sarcomatoid squamous cell skin carcinoma Disease_Ontology DOID:5537 DOID:5537 squamous cell bile duct carcinoma Disease_Ontology DOID:5538 DOID:5538 external ear squamous cell carcinoma Disease_Ontology DOID:5539 DOID:5539 ureter squamous cell carcinoma Disease_Ontology DOID:5540 DOID:5540 fallopian tube squamous cell carcinoma Disease_Ontology DOID:5545 DOID:5545 anal neuroendocrine tumor Disease_Ontology DOID:5546 DOID:5546 femoral cancer Disease_Ontology DOID:5547 DOID:5547 pulmonary artery choriocarcinoma Disease_Ontology DOID:5550 DOID:5550 choriocarcinoma of ovary Disease_Ontology DOID:5551 DOID:5551 choriocarcinoma of the testis Disease_Ontology DOID:5553 DOID:5553 pineal region choriocarcinoma Disease_Ontology DOID:5556 DOID:5556 testicular malignant germ cell cancer Disease_Ontology DOID:5557 DOID:5557 testicular germ cell cancer Disease_Ontology DOID:5559 DOID:5559 mediastinal cancer Disease_Ontology DOID:5560 DOID:5560 mediastinal mesenchymal tumor Disease_Ontology DOID:5561 DOID:5561 gastric teratoma Disease_Ontology DOID:5563 DOID:5563 malignant teratoma Disease_Ontology DOID:5564 DOID:5564 fallopian tube teratoma Disease_Ontology DOID:5565 DOID:5565 adult teratoma Disease_Ontology DOID:5566 DOID:5566 mature teratoma Disease_Ontology DOID:5567 DOID:5567 ovarian germ cell teratoma Disease_Ontology DOID:5568 DOID:5568 mediastinum teratoma Disease_Ontology DOID:5569 DOID:5569 malignant syringoma Disease_Ontology DOID:557 DOID:557 kidney disease Disease_Ontology DOID:5570 DOID:5570 malignant acrospiroma Disease_Ontology DOID:5572 DOID:5572 Beckwith-Wiedemann syndrome Disease_Ontology DOID:5574 DOID:5574 VIPoma Disease_Ontology DOID:5576 DOID:5576 inhibited male orgasm Disease_Ontology DOID:5577 DOID:5577 gastrinoma Disease_Ontology DOID:5579 DOID:5579 gastric gastrinoma Disease_Ontology DOID:5580 DOID:5580 pancreatic gastrinoma Disease_Ontology DOID:5583 DOID:5583 lung giant cell carcinoma Disease_Ontology DOID:5585 DOID:5585 Ferguson-Smith tumor Disease_Ontology DOID:5587 DOID:5587 Volkmann contracture Disease_Ontology DOID:5588 DOID:5588 lung papillary adenocarcinoma Disease_Ontology DOID:559 DOID:559 acute pyelonephritis Disease_Ontology DOID:5590 DOID:5590 aggressive digital papillary adenocarcinoma Disease_Ontology DOID:5591 DOID:5591 eccrine papillary adenocarcinoma Disease_Ontology DOID:5592 DOID:5592 breast papillary carcinoma Disease_Ontology DOID:5593 DOID:5593 gastric papillary adenocarcinoma Disease_Ontology DOID:5595 DOID:5595 papillary thymic adenocarcinoma Disease_Ontology DOID:5597 DOID:5597 fallopian tube papillary adenocarcinoma Disease_Ontology DOID:5598 DOID:5598 fallopian tube serous adenocarcinoma Disease_Ontology DOID:560 DOID:560 jaw-winking syndrome Disease_Ontology DOID:5602 DOID:5602 T-cell adult acute lymphocytic leukemia Disease_Ontology DOID:5603 DOID:5603 T-cell acute lymphoblastic leukemia Disease_Ontology DOID:5604 DOID:5604 adult acute lymphocytic leukemia Disease_Ontology DOID:5605 DOID:5605 breast medullary carcinoma Disease_Ontology DOID:5608 DOID:5608 dental pulp calcification Disease_Ontology DOID:561 DOID:561 trigeminal nerve disease Disease_Ontology DOID:5612 DOID:5612 spinal cancer Disease_Ontology DOID:5614 DOID:5614 eye disease Disease_Ontology DOID:5615 DOID:5615 spinal canal intradural extramedullary neoplasm Disease_Ontology DOID:562 DOID:562 third cranial nerve disease Disease_Ontology DOID:5621 DOID:5621 histiocytic and dendritic cell cancer Disease_Ontology DOID:5623 DOID:5623 adenosquamous breast carcinoma Disease_Ontology DOID:5624 DOID:5624 adenosquamous bile duct carcinoma Disease_Ontology DOID:5625 DOID:5625 esophageal adenosquamous carcinoma Disease_Ontology DOID:5626 DOID:5626 thymus adenosquamous carcinoma Disease_Ontology DOID:5627 DOID:5627 adenosquamous gallbladder carcinoma Disease_Ontology DOID:5628 DOID:5628 ampulla of Vater adenosquamous carcinoma Disease_Ontology DOID:5629 DOID:5629 adenosquamous colon carcinoma Disease_Ontology DOID:5630 DOID:5630 Bartholin's gland adenosquamous carcinoma Disease_Ontology DOID:5631 DOID:5631 endometrial adenosquamous carcinoma Disease_Ontology DOID:5632 DOID:5632 optic nerve sheath meningioma Disease_Ontology DOID:5634 DOID:5634 adenosquamous prostate carcinoma Disease_Ontology DOID:5635 DOID:5635 gastric adenosquamous carcinoma Disease_Ontology DOID:5636 DOID:5636 cervical adenosquamous carcinoma Disease_Ontology DOID:5637 DOID:5637 pancreatic adenosquamous carcinoma Disease_Ontology DOID:5638 DOID:5638 malignant giant cell tumor of soft parts Disease_Ontology DOID:5639 DOID:5639 rete testis neoplasm Disease_Ontology DOID:5641 DOID:5641 diffuse pulmonary fibrosis Disease_Ontology DOID:5642 DOID:5642 localized pulmonary fibrosis Disease_Ontology DOID:5643 DOID:5643 urethral villous adenoma Disease_Ontology DOID:5644 DOID:5644 tricuspid valve prolapse Disease_Ontology DOID:5648 DOID:5648 choroid plexus carcinoma Disease_Ontology DOID:565 DOID:565 bilateral hypoactive labyrinth Disease_Ontology DOID:5655 DOID:5655 chiasmal syndrome Disease_Ontology DOID:5656 DOID:5656 cranial nerve disease Disease_Ontology DOID:5658 DOID:5658 lipid-rich carcinoma Disease_Ontology DOID:566 DOID:566 labyrinthine dysfunction Disease_Ontology DOID:5660 DOID:5660 lymphoepithelioma-like carcinoma Disease_Ontology DOID:5662 DOID:5662 pleomorphic carcinoma Disease_Ontology DOID:5665 DOID:5665 external ear cancer Disease_Ontology DOID:5667 DOID:5667 sweat gland carcinoma Disease_Ontology DOID:5670 DOID:5670 comedo carcinoma Disease_Ontology DOID:5672 DOID:5672 large intestine cancer Disease_Ontology DOID:5675 DOID:5675 cribriform carcinoma Disease_Ontology DOID:5677 DOID:5677 malignant extragonadal nonseminomatous germ cell tumor Disease_Ontology DOID:5678 DOID:5678 nerve fibre bundle defect Disease_Ontology DOID:5679 DOID:5679 retinal disease Disease_Ontology DOID:5680 DOID:5680 embryonal testis carcinoma Disease_Ontology DOID:5681 DOID:5681 ovarian embryonal carcinoma Disease_Ontology DOID:5683 DOID:5683 hereditary breast ovarian cancer syndrome Disease_Ontology DOID:5684 DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type Disease_Ontology DOID:5688 DOID:5688 Werner syndrome Disease_Ontology DOID:5690 DOID:5690 well-differentiated liposarcoma Disease_Ontology DOID:5691 DOID:5691 visual cortex disease Disease_Ontology DOID:5692 DOID:5692 cellular myxoid liposarcoma Disease_Ontology DOID:5693 DOID:5693 adult liposarcoma Disease_Ontology DOID:5694 DOID:5694 esophagus liposarcoma Disease_Ontology DOID:5695 DOID:5695 childhood liposarcoma Disease_Ontology DOID:5696 DOID:5696 larynx liposarcoma Disease_Ontology DOID:5697 DOID:5697 liposarcoma of the ovary Disease_Ontology DOID:5698 DOID:5698 fibroblastic liposarcoma Disease_Ontology DOID:5699 DOID:5699 kidney liposarcoma Disease_Ontology DOID:57 DOID:57 aortic valve insufficiency Disease_Ontology DOID:5700 DOID:5700 gastric liposarcoma Disease_Ontology DOID:5701 DOID:5701 breast liposarcoma Disease_Ontology DOID:5702 DOID:5702 pleomorphic liposarcoma Disease_Ontology DOID:5703 DOID:5703 mixed liposarcoma Disease_Ontology DOID:5704 DOID:5704 sclerosing liposarcoma Disease_Ontology DOID:5705 DOID:5705 spindle cell liposarcoma Disease_Ontology DOID:571 DOID:571 median neuropathy Disease_Ontology DOID:5711 DOID:5711 vulvar liposarcoma Disease_Ontology DOID:5712 DOID:5712 cutaneous liposarcoma Disease_Ontology DOID:5713 DOID:5713 mediastinum liposarcoma Disease_Ontology DOID:5714 DOID:5714 intracranial liposarcoma Disease_Ontology DOID:5715 DOID:5715 functionless pituitary adenoma Disease_Ontology DOID:5716 DOID:5716 hormone producing pituitary cancer Disease_Ontology DOID:5718 DOID:5718 adrenal neuroblastoma Disease_Ontology DOID:5719 DOID:5719 adrenal medulla cancer Disease_Ontology DOID:572 DOID:572 mononeuritis of upper limb and mononeuritis multiplex Disease_Ontology DOID:5723 DOID:5723 optic atrophy Disease_Ontology DOID:5724 DOID:5724 seminal vesicle cystadenoma Disease_Ontology DOID:5725 DOID:5725 rete ovarii cystadenoma Disease_Ontology DOID:5726 DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease Disease_Ontology DOID:5727 DOID:5727 uterine ligament cancer Disease_Ontology DOID:5728 DOID:5728 diffuse peritoneal leiomyomatosis Disease_Ontology DOID:5729 DOID:5729 intravenous leiomyomatosis Disease_Ontology DOID:573 DOID:573 nerve compression syndrome Disease_Ontology DOID:5730 DOID:5730 salpingitis isthmica nodosa Disease_Ontology DOID:5731 DOID:5731 chronic salpingitis Disease_Ontology DOID:5732 DOID:5732 pyosalpinx Disease_Ontology DOID:5733 DOID:5733 salpingitis Disease_Ontology DOID:574 DOID:574 peripheral nervous system disease Disease_Ontology DOID:5740 DOID:5740 small intestinal vasoactive intestinal peptide producing tumor Disease_Ontology DOID:5741 DOID:5741 pancreatic vasoactive intestinal peptide producing tumor Disease_Ontology DOID:5742 DOID:5742 pancreatic acinar cell adenocarcinoma Disease_Ontology DOID:5743 DOID:5743 acinic cell breast carcinoma Disease_Ontology DOID:5744 DOID:5744 ovary serous adenocarcinoma Disease_Ontology DOID:5746 DOID:5746 ovarian serous cystadenocarcinoma Disease_Ontology DOID:5747 DOID:5747 uterine ligament serous adenocarcinoma Disease_Ontology DOID:5748 DOID:5748 rheumatic pulmonary valve disease Disease_Ontology DOID:5749 DOID:5749 pulmonary valve disease Disease_Ontology DOID:5750 DOID:5750 endometrial serous adenocarcinoma Disease_Ontology DOID:5751 DOID:5751 pancreatic serous cystadenocarcinoma Disease_Ontology DOID:5752 DOID:5752 cervical serous adenocarcinoma Disease_Ontology DOID:5757 DOID:5757 endocervicitis Disease_Ontology DOID:5758 DOID:5758 malignant mesenchymoma Disease_Ontology DOID:5759 DOID:5759 sebaceous gland neoplasm Disease_Ontology DOID:576 DOID:576 proteinuria Disease_Ontology DOID:5760 DOID:5760 sebaceous breast carcinoma Disease_Ontology DOID:5761 DOID:5761 vulvar sebaceous carcinoma Disease_Ontology DOID:5763 DOID:5763 lung clear cell-sugar-tumor Disease_Ontology DOID:5764 DOID:5764 lung meningioma Disease_Ontology DOID:5766 DOID:5766 pulmonary sclerosing hemangioma Disease_Ontology DOID:5767 DOID:5767 hilar lung neoplasm Disease_Ontology DOID:5768 DOID:5768 Nager acrofacial dysostosis Disease_Ontology DOID:5769 DOID:5769 verruciform xanthoma of skin Disease_Ontology DOID:5772 DOID:5772 central nervous system hematologic cancer Disease_Ontology DOID:5773 DOID:5773 oral submucous fibrosis Disease_Ontology DOID:5774 DOID:5774 giant hemangioma Disease_Ontology DOID:5775 DOID:5775 cavernous hemangioma of colon Disease_Ontology DOID:5776 DOID:5776 cavernous hemangioma of face Disease_Ontology DOID:5777 DOID:5777 rectum neuroendocrine neoplasm Disease_Ontology DOID:5781 DOID:5781 atrophic flaccid tympanic membrane Disease_Ontology DOID:5782 DOID:5782 tympanic membrane disease Disease_Ontology DOID:5784 DOID:5784 esophageal neuroendocrine tumor Disease_Ontology DOID:5789 DOID:5789 mixed hepatoblastoma Disease_Ontology DOID:5798 DOID:5798 macrotrabecular hepatoblastoma Disease_Ontology DOID:580 DOID:580 uric acid nephrolithiasis Disease_Ontology DOID:5804 DOID:5804 discrete subaortic stenosis Disease_Ontology DOID:5805 DOID:5805 subvalvular aortic stenosis Disease_Ontology DOID:5806 DOID:5806 stork bite Disease_Ontology DOID:5809 DOID:5809 childhood parosteal osteogenic sarcoma Disease_Ontology DOID:5810 DOID:5810 adenosine deaminase deficiency Disease_Ontology DOID:5812 DOID:5812 MHC class II deficiency Disease_Ontology DOID:5813 DOID:5813 purine nucleoside phosphorylase deficiency Disease_Ontology DOID:5815 DOID:5815 cerebral lymphoma Disease_Ontology DOID:582 DOID:582 hemoglobinuria Disease_Ontology DOID:5820 DOID:5820 composite lymphoma Disease_Ontology DOID:5821 DOID:5821 methotrexate-associated lymphoproliferation Disease_Ontology DOID:5822 DOID:5822 gray zone lymphoma Disease_Ontology DOID:5823 DOID:5823 childhood lymphoma Disease_Ontology DOID:5825 DOID:5825 adult lymphoma Disease_Ontology DOID:5826 DOID:5826 breast lymphoma Disease_Ontology DOID:5828 DOID:5828 endometrioid ovary carcinoma Disease_Ontology DOID:5829 DOID:5829 uterine ligament endometrioid adenocarcinoma Disease_Ontology DOID:583 DOID:583 hemolytic anemia Disease_Ontology DOID:5830 DOID:5830 cervical endometrioid adenocarcinoma Disease_Ontology DOID:5831 DOID:5831 fallopian tube endometrioid adenocarcinoma Disease_Ontology DOID:5834 DOID:5834 spermatocytoma Disease_Ontology DOID:5838 DOID:5838 extragonadal seminoma Disease_Ontology DOID:5842 DOID:5842 testis seminoma Disease_Ontology DOID:5843 DOID:5843 posteroinferior myocardial infarction Disease_Ontology DOID:5844 DOID:5844 myocardial infarction Disease_Ontology DOID:5845 DOID:5845 anterolateral myocardial infarction Disease_Ontology DOID:5846 DOID:5846 septal myocardial infarction Disease_Ontology DOID:5847 DOID:5847 posterior myocardial infarction Disease_Ontology DOID:5848 DOID:5848 apical myocardial infarction Disease_Ontology DOID:5849 DOID:5849 subendocardial myocardial infarction Disease_Ontology DOID:585 DOID:585 nephrolithiasis Disease_Ontology DOID:5850 DOID:5850 inferior myocardial infarction Disease_Ontology DOID:5851 DOID:5851 posterolateral myocardial infarction Disease_Ontology DOID:5852 DOID:5852 inferolateral myocardial infarct Disease_Ontology DOID:5853 DOID:5853 lateral myocardial infarction Disease_Ontology DOID:5854 DOID:5854 silent myocardial infarction Disease_Ontology DOID:5855 DOID:5855 anteroseptal myocardial infarction Disease_Ontology DOID:5859 DOID:5859 periosteal chondrosarcoma Disease_Ontology DOID:5861 DOID:5861 myxoid chondrosarcoma Disease_Ontology DOID:5862 DOID:5862 localized chondrosarcoma Disease_Ontology DOID:5866 DOID:5866 juxtacortical chondrosarcoma Disease_Ontology DOID:5867 DOID:5867 clear cell chondrosarcoma Disease_Ontology DOID:5870 DOID:5870 eosinophilic pneumonia Disease_Ontology DOID:5874 DOID:5874 retroperitoneal germ cell neoplasm Disease_Ontology DOID:5875 DOID:5875 retroperitoneal cancer Disease_Ontology DOID:5876 DOID:5876 apocrine sweat gland neoplasm Disease_Ontology DOID:5877 DOID:5877 endocardium cancer Disease_Ontology DOID:5884 DOID:5884 benign intermediate mesothelioma Disease_Ontology DOID:5889 DOID:5889 anaplastic ependymoma Disease_Ontology DOID:589 DOID:589 congenital hemolytic anemia Disease_Ontology DOID:5890 DOID:5890 malignant adult ependymoma Disease_Ontology DOID:5893 DOID:5893 childhood malignant mesenchymoma Disease_Ontology DOID:5894 DOID:5894 adult malignant mesenchymoma Disease_Ontology DOID:5895 DOID:5895 clear cell cystadenofibroma Disease_Ontology DOID:5896 DOID:5896 ovarian clear cell cystadenofibroma Disease_Ontology DOID:5897 DOID:5897 ovarian clear cell adenofibroma Disease_Ontology DOID:5900 DOID:5900 meningeal melanocytoma Disease_Ontology DOID:5907 DOID:5907 penis non-invasive verrucous carcinoma Disease_Ontology DOID:5908 DOID:5908 penis verrucous carcinoma Disease_Ontology DOID:591 DOID:591 phobic disorder Disease_Ontology DOID:5913 DOID:5913 brachial plexus neoplasm Disease_Ontology DOID:5914 DOID:5914 diffuse sclerosing papillary thyroid carcinoma Disease_Ontology DOID:5915 DOID:5915 uterus intravascular leiomyomatosis Disease_Ontology DOID:5916 DOID:5916 uterine corpus leiomyomatosis Disease_Ontology DOID:5917 DOID:5917 uterine corpus diffuse leiomyomatosis Disease_Ontology DOID:5921 DOID:5921 adult brainstem mixed glioma Disease_Ontology DOID:5922 DOID:5922 adult brainstem astrocytoma Disease_Ontology DOID:5923 DOID:5923 distal biliary tract carcinoma Disease_Ontology DOID:5926 DOID:5926 extrahepatic bile duct small cell adenocarcinoma Disease_Ontology DOID:593 DOID:593 agoraphobia Disease_Ontology DOID:5936 DOID:5936 ovarian mixed germ cell neoplasm Disease_Ontology DOID:594 DOID:594 panic disorder Disease_Ontology DOID:5940 DOID:5940 malignant peripheral nerve sheath tumor Disease_Ontology DOID:5948 DOID:5948 angiokeratoma of mibelli Disease_Ontology DOID:5949 DOID:5949 angiokeratoma circumscriptum Disease_Ontology DOID:5957 DOID:5957 bladder urachal squamous cell carcinoma Disease_Ontology DOID:5958 DOID:5958 bladder urachal carcinoma Disease_Ontology DOID:5973 DOID:5973 kidney pelvis papillary carcinoma Disease_Ontology DOID:5974 DOID:5974 renal pelvis transitional cell carcinoma Disease_Ontology DOID:5975 DOID:5975 renal pelvis papillary tumor Disease_Ontology DOID:5976 DOID:5976 occlusion precerebral artery Disease_Ontology DOID:5977 DOID:5977 renal pelvis benign neoplasm Disease_Ontology DOID:5982 DOID:5982 kidney fibrosarcoma Disease_Ontology DOID:5983 DOID:5983 kidney osteogenic sarcoma Disease_Ontology DOID:599 DOID:599 specific phobia Disease_Ontology DOID:5990 DOID:5990 internal auditory canal meningioma Disease_Ontology DOID:5997 DOID:5997 non-proliferative fibrocystic change of the breast Disease_Ontology DOID:5998 DOID:5998 microglandular adenosis Disease_Ontology DOID:5999 DOID:5999 apocrine adenosis of breast Disease_Ontology DOID:600 DOID:600 animal phobia Disease_Ontology DOID:6000 DOID:6000 congestive heart failure Disease_Ontology DOID:60000 DOID:60000 appendix disease Disease_Ontology DOID:60001 DOID:60001 pulmonary artery disease Disease_Ontology DOID:60002 DOID:60002 Bartholin's gland disease Disease_Ontology DOID:60003 DOID:60003 Bartholin's gland cancer Disease_Ontology DOID:60004 DOID:60004 malignant cystadenoma Disease_Ontology DOID:60006 DOID:60006 benign vascular tumor Disease_Ontology DOID:60007 DOID:60007 cerebrovascular benign neoplasm Disease_Ontology DOID:60008 DOID:60008 parathyroid gland benign neoplasm Disease_Ontology DOID:60009 DOID:60009 pituitary gland benign neoplasm Disease_Ontology DOID:6001 DOID:6001 breast fibrosarcoma Disease_Ontology DOID:6003 DOID:6003 aleukemic leukemia cutis Disease_Ontology DOID:6004 DOID:6004 aleukemic leukemia Disease_Ontology DOID:6015 DOID:6015 adult central nervous system teratoma Disease_Ontology DOID:6016 DOID:6016 adult central nervous system mature teratoma Disease_Ontology DOID:6017 DOID:6017 central nervous system mature teratoma Disease_Ontology DOID:6018 DOID:6018 adult central nervous system immature teratoma Disease_Ontology DOID:6019 DOID:6019 central nervous system immature teratoma Disease_Ontology DOID:602 DOID:602 cancerophobia Disease_Ontology DOID:6024 DOID:6024 selective IgE deficiency disease Disease_Ontology DOID:6025 DOID:6025 selective immunoglobulin deficiency disease Disease_Ontology DOID:603 DOID:603 AIDS phobia Disease_Ontology DOID:6032 DOID:6032 juvenile type testicular granulosa cell tumor Disease_Ontology DOID:6033 DOID:6033 heart fibrosarcoma Disease_Ontology DOID:6034 DOID:6034 heart malignant hemangiopericytoma Disease_Ontology DOID:6037 DOID:6037 spindle cell intraocular melanoma Disease_Ontology DOID:6039 DOID:6039 uveal melanoma Disease_Ontology DOID:6041 DOID:6041 choroid spindle cell melanoma Disease_Ontology DOID:6043 DOID:6043 ciliary body spindle cell melanoma Disease_Ontology DOID:6048 DOID:6048 telangiectatic glomangioma Disease_Ontology DOID:605 DOID:605 flying phobia Disease_Ontology DOID:6050 DOID:6050 esophageal disease Disease_Ontology DOID:6052 DOID:6052 central nervous system childhood germ cell tumor Disease_Ontology DOID:6053 DOID:6053 childhood germ cell cancer Disease_Ontology DOID:6054 DOID:6054 frontal sinus Schneiderian papilloma Disease_Ontology DOID:6059 DOID:6059 nasal vestibule papilloma Disease_Ontology DOID:606 DOID:606 Brown-Sequard syndrome Disease_Ontology DOID:6065 DOID:6065 urinary tract non-invasive transitional cell neoplasm Disease_Ontology DOID:6067 DOID:6067 ovarian mucinous neoplasm Disease_Ontology DOID:607 DOID:607 paraplegia Disease_Ontology DOID:6082 DOID:6082 childhood testicular germ cell tumor Disease_Ontology DOID:6083 DOID:6083 childhood ovarian endodermal sinus tumor Disease_Ontology DOID:6084 DOID:6084 childhood ovarian germ cell tumor Disease_Ontology DOID:6085 DOID:6085 meningeal melanoma Disease_Ontology DOID:6086 DOID:6086 malignant leptomeningeal neoplasm Disease_Ontology DOID:6088 DOID:6088 acute stress disorder Disease_Ontology DOID:6089 DOID:6089 childhood leptomeningeal melanoma Disease_Ontology DOID:6090 DOID:6090 adult leptomeningeal melanoma Disease_Ontology DOID:6098 DOID:6098 thalamic neoplasm Disease_Ontology DOID:61 DOID:61 mitral valve disease Disease_Ontology DOID:6101 DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma Disease_Ontology DOID:6102 DOID:6102 herpetic gastritis Disease_Ontology DOID:6103 DOID:6103 thoracic spinal canal and spinal cord meningioma Disease_Ontology DOID:6110 DOID:6110 jugular foramen meningioma Disease_Ontology DOID:6112 DOID:6112 cerebral meningioma Disease_Ontology DOID:6113 DOID:6113 intracerebral cystic meningioma Disease_Ontology DOID:6114 DOID:6114 cerebral convexity meningioma Disease_Ontology DOID:6115 DOID:6115 lateral ventricle meningioma Disease_Ontology DOID:6118 DOID:6118 renal pelvis inverted papilloma Disease_Ontology DOID:6119 DOID:6119 renal pelvis urothelial papilloma Disease_Ontology DOID:612 DOID:612 primary immunodeficiency disease Disease_Ontology DOID:6126 DOID:6126 anal canal carcinoma Disease_Ontology DOID:6128 DOID:6128 gliomatosis cerebri Disease_Ontology DOID:6132 DOID:6132 bronchitis Disease_Ontology DOID:6139 DOID:6139 uterine corpus epithelioid leiomyosarcoma Disease_Ontology DOID:614 DOID:614 lymphopenia Disease_Ontology DOID:6148 DOID:6148 nasal cavity carcinoma in situ Disease_Ontology DOID:615 DOID:615 leukopenia Disease_Ontology DOID:6160 DOID:6160 childhood choriocarcinoma of the testis Disease_Ontology DOID:6161 DOID:6161 childhood testicular mixed germ cell tumor Disease_Ontology DOID:6162 DOID:6162 childhood embryonal testis carcinoma Disease_Ontology DOID:6163 DOID:6163 familial renal papillary carcinoma Disease_Ontology DOID:6166 DOID:6166 prostatic urethra urothelial carcinoma Disease_Ontology DOID:6167 DOID:6167 prostatic urethral cancer Disease_Ontology DOID:6170 DOID:6170 ovarian carcinosarcoma Disease_Ontology DOID:6171 DOID:6171 uterine carcinosarcoma Disease_Ontology DOID:6175 DOID:6175 mediastinal neurilemmoma Disease_Ontology DOID:6179 DOID:6179 ovarian small cell carcinoma Disease_Ontology DOID:6190 DOID:6190 rectum Kaposi's sarcoma Disease_Ontology DOID:6192 DOID:6192 malignant inflammatory fibrous histiocytoma Disease_Ontology DOID:6193 DOID:6193 epithelioid sarcoma Disease_Ontology DOID:6195 DOID:6195 conjunctivitis Disease_Ontology DOID:6196 DOID:6196 reactive arthritis Disease_Ontology DOID:6197 DOID:6197 conventional malignant hemangiopericytoma Disease_Ontology DOID:6198 DOID:6198 corneal intraepithelial neoplasm Disease_Ontology DOID:6199 DOID:6199 cornea cancer Disease_Ontology DOID:62 DOID:62 aortic valve disease Disease_Ontology DOID:620 DOID:620 blood protein disease Disease_Ontology DOID:6201 DOID:6201 pericardial mesothelioma Disease_Ontology DOID:6203 DOID:6203 thyroid hyalinizing trabecular adenoma Disease_Ontology DOID:6204 DOID:6204 follicular adenoma Disease_Ontology DOID:6208 DOID:6208 mediastinal osteogenic sarcoma Disease_Ontology DOID:6209 DOID:6209 malignant mediastinum hemangiopericytoma Disease_Ontology DOID:6210 DOID:6210 bladder diffuse clear cell adenocarcinoma Disease_Ontology DOID:6211 DOID:6211 mixed epithelial tumor of ovary Disease_Ontology DOID:6212 DOID:6212 ovarian endometrial cancer Disease_Ontology DOID:6214 DOID:6214 ovarian papillary neoplasm Disease_Ontology DOID:6217 DOID:6217 gastric diffuse adenocarcinoma Disease_Ontology DOID:6225 DOID:6225 Cronkhite-Canada syndrome Disease_Ontology DOID:6227 DOID:6227 articular cartilage disease Disease_Ontology DOID:6228 DOID:6228 peritoneal serous papillary adenocarcinoma Disease_Ontology DOID:6229 DOID:6229 childhood mature teratoma of the ovary Disease_Ontology DOID:6230 DOID:6230 childhood teratoma of the ovary Disease_Ontology DOID:6231 DOID:6231 mature teratoma of the ovary Disease_Ontology DOID:6232 DOID:6232 ovarian biphasic or triphasic teratoma Disease_Ontology DOID:6239 DOID:6239 non-invasive bladder papillary urothelial neoplasm Disease_Ontology DOID:624 DOID:624 transient hypogammaglobulinemia of infancy Disease_Ontology DOID:6244 DOID:6244 familial renal oncocytoma Disease_Ontology DOID:6245 DOID:6245 renal oncocytoma Disease_Ontology DOID:6249 DOID:6249 mediastinum seminoma Disease_Ontology DOID:6255 DOID:6255 growth hormone secreting pituitary adenoma Disease_Ontology DOID:6256 DOID:6256 malignant growth hormone secreting neoplasm of pituitary Disease_Ontology DOID:6257 DOID:6257 chromophil adenoma of the kidney Disease_Ontology DOID:6258 DOID:6258 type 1 papillary adenoma of the kidney Disease_Ontology DOID:6259 DOID:6259 type 2 papillary adenoma of the kidney Disease_Ontology DOID:626 DOID:626 complement deficiency Disease_Ontology DOID:6262 DOID:6262 follicular dendritic cell sarcoma Disease_Ontology DOID:6263 DOID:6263 inflammatory breast carcinoma Disease_Ontology DOID:627 DOID:627 severe combined immunodeficiency Disease_Ontology DOID:6270 DOID:6270 gastric cardia carcinoma Disease_Ontology DOID:6271 DOID:6271 gastric cardia adenocarcinoma Disease_Ontology DOID:6274 DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland Disease_Ontology DOID:6275 DOID:6275 TSH producing pituitary tumor Disease_Ontology DOID:6276 DOID:6276 malignant ACTH producing neoplasm of pituitary gland Disease_Ontology DOID:6278 DOID:6278 ovarian mucinous malignant adenofibroma Disease_Ontology DOID:628 DOID:628 combined T cell and B cell immunodeficiency Disease_Ontology DOID:6284 DOID:6284 epicardium lipoma Disease_Ontology DOID:6285 DOID:6285 heart lipoma Disease_Ontology DOID:6286 DOID:6286 childhood cerebellar astrocytic neoplasm Disease_Ontology DOID:6291 DOID:6291 cerebral hemisphere lipoma Disease_Ontology DOID:6293 DOID:6293 central nervous system lipoma Disease_Ontology DOID:6294 DOID:6294 corpus callosum lipoma Disease_Ontology DOID:6297 DOID:6297 viral esophagitis Disease_Ontology DOID:630 DOID:630 genetic disease Disease_Ontology DOID:6307 DOID:6307 ectopic thymus Disease_Ontology DOID:631 DOID:631 fibromyalgia Disease_Ontology DOID:6312 DOID:6312 clivus chordoma Disease_Ontology DOID:6313 DOID:6313 clivus chondroid chordoma Disease_Ontology DOID:6314 DOID:6314 ovarian fetiform teratoma Disease_Ontology DOID:6315 DOID:6315 ovarian solid teratoma Disease_Ontology DOID:6316 DOID:6316 Bartholin's gland adenocarcinoma Disease_Ontology DOID:6322 DOID:6322 tibial adamantinoma Disease_Ontology DOID:633 DOID:633 myositis Disease_Ontology DOID:6331 DOID:6331 immature teratoma of ovary Disease_Ontology DOID:6332 DOID:6332 adult malignant hemangiopericytoma Disease_Ontology DOID:6333 DOID:6333 adult intracranial malignant hemangiopericytoma Disease_Ontology DOID:6334 DOID:6334 anterior optic tract meningioma Disease_Ontology DOID:6335 DOID:6335 bilateral meningioma of optic nerve Disease_Ontology DOID:6337 DOID:6337 cerebellopontine angle meningioma Disease_Ontology DOID:6339 DOID:6339 vulvar eccrine adenocarcinoma Disease_Ontology DOID:6344 DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor Disease_Ontology DOID:6345 DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath Disease_Ontology DOID:635 DOID:635 acquired immunodeficiency syndrome Disease_Ontology DOID:6354 DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma Disease_Ontology DOID:636 DOID:636 central pontine myelinolysis Disease_Ontology DOID:6364 DOID:6364 migraine Disease_Ontology DOID:6367 DOID:6367 acral lentiginous melanoma Disease_Ontology DOID:6370 DOID:6370 hepatic osteogenic sarcoma Disease_Ontology DOID:6376 DOID:6376 hypersplenism Disease_Ontology DOID:6379 DOID:6379 diffuse meningeal melanocytosis Disease_Ontology DOID:6381 DOID:6381 anterior foramen magnum meningioma Disease_Ontology DOID:6383 DOID:6383 childhood brain stem glioma Disease_Ontology DOID:6386 DOID:6386 childhood brainstem astrocytoma Disease_Ontology DOID:639 DOID:639 acute disseminated encephalomyelitis Disease_Ontology DOID:640 DOID:640 encephalomyelitis Disease_Ontology DOID:6404 DOID:6404 metanephric adenoma Disease_Ontology DOID:6405 DOID:6405 ovarian papillary cystadenoma Disease_Ontology DOID:6406 DOID:6406 double outlet right ventricle Disease_Ontology DOID:6407 DOID:6407 ovarian surface papilloma Disease_Ontology DOID:6408 DOID:6408 ovary papillary carcinoma Disease_Ontology DOID:6419 DOID:6419 tetralogy of Fallot Disease_Ontology DOID:6420 DOID:6420 pulmonary valve stenosis Disease_Ontology DOID:6423 DOID:6423 childhood central nervous system mature teratoma Disease_Ontology DOID:6425 DOID:6425 eyelid carcinoma Disease_Ontology DOID:6428 DOID:6428 cervical adenoid basal carcinoma Disease_Ontology DOID:643 DOID:643 progressive multifocal leukoencephalopathy Disease_Ontology DOID:6432 DOID:6432 pulmonary hypertension Disease_Ontology DOID:6438 DOID:6438 malignant choroid melanoma Disease_Ontology DOID:6445 DOID:6445 ovarian endometrioid malignant adenofibroma Disease_Ontology DOID:6446 DOID:6446 ceruminous adenocarcinoma Disease_Ontology DOID:6448 DOID:6448 vulvar apocrine adenocarcinoma Disease_Ontology DOID:6451 DOID:6451 central nervous system fibrosarcoma Disease_Ontology DOID:6457 DOID:6457 Cowden syndrome Disease_Ontology DOID:6458 DOID:6458 cerebellar liponeurocytoma Disease_Ontology DOID:6459 DOID:6459 rectal lipoma Disease_Ontology DOID:646 DOID:646 viral encephalitis Disease_Ontology DOID:6460 DOID:6460 large intestine lipoma Disease_Ontology DOID:6468 DOID:6468 mucinous cystadenofibroma Disease_Ontology DOID:6469 DOID:6469 ovarian mucinous adenofibroma Disease_Ontology DOID:6474 DOID:6474 childhood teratocarcinoma of the testis Disease_Ontology DOID:6476 DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma Disease_Ontology DOID:6477 DOID:6477 invasive bladder transitional cell carcinoma Disease_Ontology DOID:648 DOID:648 kuru Disease_Ontology DOID:6481 DOID:6481 bladder signet ring cell adenocarcinoma Disease_Ontology DOID:6482 DOID:6482 lung acinar adenocarcinoma Disease_Ontology DOID:6483 DOID:6483 rete testis adenoma Disease_Ontology DOID:6484 DOID:6484 mediastinal melanocytic neurilemmoma Disease_Ontology DOID:6489 DOID:6489 periosteal osteogenic sarcoma Disease_Ontology DOID:649 DOID:649 prion disease Disease_Ontology DOID:6491 DOID:6491 breast capillary hemangioma Disease_Ontology DOID:6492 DOID:6492 breast epithelioid hemangioma Disease_Ontology DOID:6494 DOID:6494 childhood myxoid chondrosarcoma Disease_Ontology DOID:6498 DOID:6498 seborrheic keratosis Disease_Ontology DOID:65 DOID:65 connective tissue disease Disease_Ontology DOID:6500 DOID:6500 cerebellar angioblastoma Disease_Ontology DOID:6501 DOID:6501 brain stem angioblastoma Disease_Ontology DOID:6505 DOID:6505 vaginal spindle cell epithelioma Disease_Ontology DOID:6510 DOID:6510 lung occult squamous cell carcinoma Disease_Ontology DOID:6511 DOID:6511 glandular pattern ovarian yolk sac tumor Disease_Ontology DOID:6512 DOID:6512 hepatoid pattern ovarian yolk sac tumor Disease_Ontology DOID:6514 DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor Disease_Ontology DOID:6517 DOID:6517 clivus meningioma Disease_Ontology DOID:6518 DOID:6518 Bartholin's gland adenomyoma Disease_Ontology DOID:6522 DOID:6522 mixed cell uveal melanoma Disease_Ontology DOID:6523 DOID:6523 ciliary body mixed cell melanoma Disease_Ontology DOID:6524 DOID:6524 malignant ciliary body melanoma Disease_Ontology DOID:6525 DOID:6525 choroid mixed cell melanoma Disease_Ontology DOID:653 DOID:653 purine-pyrimidine metabolic disorder Disease_Ontology DOID:6530 DOID:6530 thymoma type B2 Disease_Ontology DOID:6536 DOID:6536 plasma cell neoplasm Disease_Ontology DOID:654 DOID:654 overnutrition Disease_Ontology DOID:6543 DOID:6543 acne Disease_Ontology DOID:6547 DOID:6547 heart lymphoma Disease_Ontology DOID:6548 DOID:6548 angiomatous meningioma Disease_Ontology DOID:655 DOID:655 inherited metabolic disorder Disease_Ontology DOID:6552 DOID:6552 gastric small cell carcinoma Disease_Ontology DOID:6553 DOID:6553 posterior foramen magnum meningioma Disease_Ontology DOID:6554 DOID:6554 ovarian clear cell malignant adenofibroma Disease_Ontology DOID:6559 DOID:6559 ethmoid sinus Schneiderian papilloma Disease_Ontology DOID:656 DOID:656 adrenal adenoma Disease_Ontology DOID:6562 DOID:6562 ethmoid sinus inverted papilloma Disease_Ontology DOID:6564 DOID:6564 neurilemmoma of the pleura Disease_Ontology DOID:6566 DOID:6566 posterior uveal melanoma Disease_Ontology DOID:6567 DOID:6567 uterine corpus myxoid leiomyosarcoma Disease_Ontology DOID:6569 DOID:6569 micropapillomatosis labialis Disease_Ontology DOID:657 DOID:657 adenoma Disease_Ontology DOID:6571 DOID:6571 non-invasive bladder urothelial carcinoma Disease_Ontology DOID:6575 DOID:6575 childhood optic tract astrocytoma Disease_Ontology DOID:6576 DOID:6576 childhood optic nerve glioma Disease_Ontology DOID:6579 DOID:6579 chest wall bone cancer Disease_Ontology DOID:6581 DOID:6581 breast apocrine carcinoma Disease_Ontology DOID:6585 DOID:6585 breast oncocytic carcinoma Disease_Ontology DOID:6587 DOID:6587 breast tubular carcinoma Disease_Ontology DOID:6590 DOID:6590 spondylitis Disease_Ontology DOID:6594 DOID:6594 bladder colonic type adenocarcinoma Disease_Ontology DOID:6595 DOID:6595 gastric tubular adenocarcinoma Disease_Ontology DOID:66 DOID:66 muscle tissue disease Disease_Ontology DOID:660 DOID:660 adrenal cortex cancer Disease_Ontology DOID:6603 DOID:6603 Kummell's disease Disease_Ontology DOID:6605 DOID:6605 classic variant of chromophobe renal cell carcinoma Disease_Ontology DOID:6606 DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma Disease_Ontology DOID:6607 DOID:6607 nervous system hibernoma Disease_Ontology DOID:6608 DOID:6608 endobronchial leiomyoma Disease_Ontology DOID:6610 DOID:6610 bone epithelioid hemangioma Disease_Ontology DOID:6612 DOID:6612 leukocyte adhesion deficiency Disease_Ontology DOID:6613 DOID:6613 vaginal villous adenoma Disease_Ontology DOID:6620 DOID:6620 X-linked hyper IgM syndrome Disease_Ontology DOID:6621 DOID:6621 cerebral angioma Disease_Ontology DOID:6627 DOID:6627 cervical adenoma malignum Disease_Ontology DOID:6629 DOID:6629 nipple carcinoma Disease_Ontology DOID:663 DOID:663 scrotal angioma Disease_Ontology DOID:6634 DOID:6634 adult central nervous system choriocarcinoma Disease_Ontology DOID:6639 DOID:6639 childhood CNS choriocarcinoma Disease_Ontology DOID:664 DOID:664 angiokeratoma of Fordyce Disease_Ontology DOID:6641 DOID:6641 breast juvenile papillomatosis Disease_Ontology DOID:6643 DOID:6643 Baastrup's syndrome Disease_Ontology DOID:6648 DOID:6648 adult pineoblastoma Disease_Ontology DOID:6652 DOID:6652 diffuse idiopathic skeletal hyperostosis Disease_Ontology DOID:6654 DOID:6654 childhood central nervous system immature teratoma Disease_Ontology DOID:6657 DOID:6657 breast large cell neuroendocrine carcinoma Disease_Ontology DOID:6658 DOID:6658 pulmonary large cell neuroendocrine carcinoma Disease_Ontology DOID:6659 DOID:6659 cervical large cell neuroendocrine carcinoma Disease_Ontology DOID:6676 DOID:6676 Froelich syndrome Disease_Ontology DOID:6677 DOID:6677 diffuse infiltrative lymphocytosis syndrome Disease_Ontology DOID:6678 DOID:6678 tooth and nail syndrome Disease_Ontology DOID:668 DOID:668 myositis ossificans Disease_Ontology DOID:6680 DOID:6680 Capgras syndrome Disease_Ontology DOID:6682 DOID:6682 spondylolisthesis Disease_Ontology DOID:6683 DOID:6683 X-linked Aarskog syndrome Disease_Ontology DOID:6686 DOID:6686 Achard syndrome Disease_Ontology DOID:6687 DOID:6687 Achenbach syndrome Disease_Ontology DOID:6688 DOID:6688 autoimmune lymphoproliferative syndrome Disease_Ontology DOID:6691 DOID:6691 Aagenaes syndrome Disease_Ontology DOID:6692 DOID:6692 Barre-Lieou syndrome Disease_Ontology DOID:6693 DOID:6693 testicular monophasic choriocarcinoma Disease_Ontology DOID:6696 DOID:6696 synchronous multifocal osteogenic sarcoma Disease_Ontology DOID:6697 DOID:6697 asynchronous multifocal osteogenic sarcoma Disease_Ontology DOID:670 DOID:670 amphetamine abuse Disease_Ontology DOID:6700 DOID:6700 gastric fundus carcinoma Disease_Ontology DOID:6703 DOID:6703 gastric pylorus carcinoma Disease_Ontology DOID:6705 DOID:6705 gastric body carcinoma Disease_Ontology DOID:6706 DOID:6706 tubular variant testicular seminoma Disease_Ontology DOID:6707 DOID:6707 malignant triton tumor Disease_Ontology DOID:6712 DOID:6712 anterior spinal artery syndrome Disease_Ontology DOID:6713 DOID:6713 cerebrovascular disease Disease_Ontology DOID:672 DOID:672 spleen cancer Disease_Ontology DOID:6721 DOID:6721 Littre gland carcinoma Disease_Ontology DOID:6723 DOID:6723 malignant type AB thymoma Disease_Ontology DOID:6725 DOID:6725 spinal stenosis Disease_Ontology DOID:6726 DOID:6726 fibrillary astrocytoma Disease_Ontology DOID:6727 DOID:6727 colon small cell carcinoma Disease_Ontology DOID:6733 DOID:6733 intrahepatic bile duct cystadenoma Disease_Ontology DOID:6735 DOID:6735 schwannoma of jugular foramen Disease_Ontology DOID:674 DOID:674 cleft palate Disease_Ontology DOID:6740 DOID:6740 cervix small cell carcinoma Disease_Ontology DOID:6741 DOID:6741 bilateral breast cancer Disease_Ontology DOID:6742 DOID:6742 synchronous bilateral breast carcinoma Disease_Ontology DOID:6752 DOID:6752 internal auditory canal lipoma Disease_Ontology DOID:6755 DOID:6755 amyloid tumor Disease_Ontology DOID:6758 DOID:6758 chest wall lymphoma Disease_Ontology DOID:6759 DOID:6759 bone lymphoma Disease_Ontology DOID:676 DOID:676 systemic juvenile rheumatoid arthritis Disease_Ontology DOID:6760 DOID:6760 lung lymphoma Disease_Ontology DOID:6762 DOID:6762 sternum lymphoma Disease_Ontology DOID:6774 DOID:6774 polyembryoma of the ovary Disease_Ontology DOID:6776 DOID:6776 breast myoepithelial carcinoma Disease_Ontology DOID:6777 DOID:6777 villoglandular endometrial endometrioid adenocarcinoma Disease_Ontology DOID:678 DOID:678 progressive supranuclear palsy Disease_Ontology DOID:6785 DOID:6785 desmoplastic small round cell tumor Disease_Ontology DOID:6786 DOID:6786 childhood botryoid rhabdomyosarcoma Disease_Ontology DOID:6787 DOID:6787 childhood vagina botryoid rhabdomyosarcoma Disease_Ontology DOID:6788 DOID:6788 vagina botryoid rhabdomyosarcoma Disease_Ontology DOID:6789 DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma Disease_Ontology DOID:679 DOID:679 basal ganglia disease Disease_Ontology DOID:680 DOID:680 tauopathy Disease_Ontology DOID:6804 DOID:6804 colon Kaposi sarcoma Disease_Ontology DOID:681 DOID:681 progressive bulbar palsy Disease_Ontology DOID:6811 DOID:6811 juvenile pilocytic astrocytoma Disease_Ontology DOID:6812 DOID:6812 childhood pilocytic astrocytoma Disease_Ontology DOID:682 DOID:682 compartment syndrome Disease_Ontology DOID:6823 DOID:6823 pancreatoblastoma Disease_Ontology DOID:6827 DOID:6827 pancreatic solid pseudopapillary carcinoma Disease_Ontology DOID:683 DOID:683 motor neuritis Disease_Ontology DOID:6837 DOID:6837 rete ovarii adenoma Disease_Ontology DOID:6838 DOID:6838 rete ovarii cystadenofibroma Disease_Ontology DOID:6839 DOID:6839 breast intraductal proliferative lesion Disease_Ontology DOID:684 DOID:684 hepatocellular carcinoma Disease_Ontology DOID:6841 DOID:6841 flat ductal epithelial atypia Disease_Ontology DOID:6844 DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma Disease_Ontology DOID:6845 DOID:6845 infiltrating ureter transitional cell carcinoma Disease_Ontology DOID:6846 DOID:6846 familial melanoma Disease_Ontology DOID:6847 DOID:6847 adult botryoid rhabdomyosarcoma Disease_Ontology DOID:6848 DOID:6848 adult vagina botryoid rhabdomyosarcoma Disease_Ontology DOID:6854 DOID:6854 ethmoid sinus ectopic meningioma Disease_Ontology DOID:6856 DOID:6856 pineal region teratoma Disease_Ontology DOID:6857 DOID:6857 pineal region mature teratoma Disease_Ontology DOID:6858 DOID:6858 pineal region immature teratoma Disease_Ontology DOID:686 DOID:686 liver carcinoma Disease_Ontology DOID:6865 DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma Disease_Ontology DOID:6867 DOID:6867 mediastinal gray zone lymphoma Disease_Ontology DOID:6868 DOID:6868 mediastinal malignant lymphoma Disease_Ontology DOID:6869 DOID:6869 parasagittal meningioma Disease_Ontology DOID:687 DOID:687 hepatoblastoma Disease_Ontology DOID:6871 DOID:6871 spinal cord neuroblastoma Disease_Ontology DOID:6872 DOID:6872 spinal cord primitive neuroectodermal neoplasm Disease_Ontology DOID:6873 DOID:6873 skin tag Disease_Ontology DOID:688 DOID:688 embryonal cancer Disease_Ontology DOID:6880 DOID:6880 small bowel fibrosarcoma Disease_Ontology DOID:6886 DOID:6886 ureter small cell carcinoma Disease_Ontology DOID:6888 DOID:6888 ureter transitional cell carcinoma Disease_Ontology DOID:6898 DOID:6898 ovarian seromucinous carcinoma Disease_Ontology DOID:6901 DOID:6901 hereditary ovarian carcinoma Disease_Ontology DOID:6903 DOID:6903 eye lymphoma Disease_Ontology DOID:6906 DOID:6906 glomangiomatosis Disease_Ontology DOID:6917 DOID:6917 predominantly cortical thymoma Disease_Ontology DOID:6925 DOID:6925 peroneal nerve paralysis Disease_Ontology DOID:6929 DOID:6929 retinal edema Disease_Ontology DOID:693 DOID:693 dental enamel hypoplasia Disease_Ontology DOID:6931 DOID:6931 papillary extrahepatic bile duct adenocarcinoma Disease_Ontology DOID:6932 DOID:6932 urinary bladder inverted papilloma Disease_Ontology DOID:6933 DOID:6933 bladder transitional cell papilloma Disease_Ontology DOID:6934 DOID:6934 urethra inverted papilloma Disease_Ontology DOID:6935 DOID:6935 ureter inverted papilloma Disease_Ontology DOID:6936 DOID:6936 ureter urothelial papilloma Disease_Ontology DOID:6938 DOID:6938 childhood intraocular retinoblastoma Disease_Ontology DOID:6939 DOID:6939 childhood brain meningioma Disease_Ontology DOID:6943 DOID:6943 vulvar inverted follicular keratosis Disease_Ontology DOID:6944 DOID:6944 vulvar seborrheic keratosis Disease_Ontology DOID:6945 DOID:6945 inverted follicular keratosis Disease_Ontology DOID:6947 DOID:6947 sphenoidal sinus benign neoplasm Disease_Ontology DOID:6948 DOID:6948 malignant gastric teratoma Disease_Ontology DOID:6950 DOID:6950 combat disorder Disease_Ontology DOID:6951 DOID:6951 telangiectatic osteogenic sarcoma Disease_Ontology DOID:6958 DOID:6958 aleukemic monocytic leukemia cutis Disease_Ontology DOID:6959 DOID:6959 rectal cloacogenic carcinoma Disease_Ontology DOID:6961 DOID:6961 Bartholin's gland squamous cell carcinoma Disease_Ontology DOID:6969 DOID:6969 acute canaliculitis Disease_Ontology DOID:6970 DOID:6970 acute inflammation of lacrimal passage Disease_Ontology DOID:6975 DOID:6975 bladder urothelial papillary carcinoma Disease_Ontology DOID:6976 DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma Disease_Ontology DOID:6977 DOID:6977 pancreatic cholera Disease_Ontology DOID:698 DOID:698 dentin sensitivity Disease_Ontology DOID:6988 DOID:6988 peripheral epithelioid sarcoma Disease_Ontology DOID:699 DOID:699 mitochondrial myopathy Disease_Ontology DOID:6992 DOID:6992 intraocular mixed cell type melanoma Disease_Ontology DOID:6993 DOID:6993 iris mixed cell melanoma Disease_Ontology DOID:6994 DOID:6994 malignant iris melanoma Disease_Ontology DOID:6996 DOID:6996 intermediate cell type choroid melanoma Disease_Ontology DOID:6997 DOID:6997 intermediate cell type ciliary body melanoma Disease_Ontology DOID:6998 DOID:6998 gallbladder mucinous carcinoma Disease_Ontology DOID:7 DOID:7 disease of anatomical entity Disease_Ontology DOID:700 DOID:700 mitochondrial metabolism disease Disease_Ontology DOID:7004 DOID:7004 ACTH-secreting pituitary adenoma Disease_Ontology DOID:7005 DOID:7005 gemistocytic astrocytoma Disease_Ontology DOID:7007 DOID:7007 childhood cerebral astrocytoma Disease_Ontology DOID:7008 DOID:7008 protoplasmic astrocytoma Disease_Ontology DOID:701 DOID:701 dentin dysplasia Disease_Ontology DOID:7013 DOID:7013 ovarian mucinous cystadenofibroma Disease_Ontology DOID:7014 DOID:7014 infiltrating lipoma Disease_Ontology DOID:7016 DOID:7016 tendon sheath lipoma Disease_Ontology DOID:7017 DOID:7017 lumbosacral lipoma Disease_Ontology DOID:7024 DOID:7024 mucinous intrahepatic cholangiocarcinoma Disease_Ontology DOID:7030 DOID:7030 bronchial mucus gland adenoma Disease_Ontology DOID:7031 DOID:7031 glottis squamous cell carcinoma Disease_Ontology DOID:7032 DOID:7032 bile duct clear cell adenocarcinoma Disease_Ontology DOID:7033 DOID:7033 anisakiasis Disease_Ontology DOID:7037 DOID:7037 childhood immature teratoma of ovary Disease_Ontology DOID:7039 DOID:7039 Borst-Jadassohn intraepidermal carcinoma Disease_Ontology DOID:7040 DOID:7040 uveal epithelioid cell melanoma Disease_Ontology DOID:7041 DOID:7041 choroid epithelioid cell melanoma Disease_Ontology DOID:7042 DOID:7042 ciliary body epithelioid cell melanoma Disease_Ontology DOID:7045 DOID:7045 basaloid lung carcinoma Disease_Ontology DOID:7046 DOID:7046 cervical basaloid squamous cell carcinoma Disease_Ontology DOID:7047 DOID:7047 penis basaloid carcinoma Disease_Ontology DOID:7048 DOID:7048 vulvar basaloid squamous cell carcinoma Disease_Ontology DOID:7049 DOID:7049 basaloid squamous cell skin carcinoma Disease_Ontology DOID:705 DOID:705 Leber hereditary optic neuropathy Disease_Ontology DOID:7050 DOID:7050 thymus basaloid carcinoma Disease_Ontology DOID:7051 DOID:7051 esophageal basaloid squamous cell carcinoma Disease_Ontology DOID:7054 DOID:7054 multiple skull base meningioma Disease_Ontology DOID:706 DOID:706 mature B-cell neoplasm Disease_Ontology DOID:707 DOID:707 B-cell lymphoma Disease_Ontology DOID:7071 DOID:7071 spinal cord dermoid cyst Disease_Ontology DOID:7076 DOID:7076 breast lipid-rich carcinoma Disease_Ontology DOID:7077 DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum Disease_Ontology DOID:7079 DOID:7079 adult cystic teratoma Disease_Ontology DOID:7081 DOID:7081 lung mixed small cell and squamous cell carcinoma Disease_Ontology DOID:7086 DOID:7086 multicentric papillary thyroid carcinoma Disease_Ontology DOID:7088 DOID:7088 columnar cell papillary thyroid carcinoma Disease_Ontology DOID:7089 DOID:7089 tall cell papillary thyroid carcinoma Disease_Ontology DOID:709 DOID:709 splenic manifestation of hairy cell leukemia Disease_Ontology DOID:7095 DOID:7095 childhood epithelioid sarcoma Disease_Ontology DOID:7097 DOID:7097 macrocystic pattern testicular yolk sac tumor Disease_Ontology DOID:710 DOID:710 splenic manifestation of leukemia Disease_Ontology DOID:7103 DOID:7103 diaphragma sellae meningioma Disease_Ontology DOID:7105 DOID:7105 epiglottis neoplasm Disease_Ontology DOID:711 DOID:711 refractory hairy cell leukemia Disease_Ontology DOID:712 DOID:712 refractory hematologic cancer Disease_Ontology DOID:7127 DOID:7127 radiation cystitis Disease_Ontology DOID:713 DOID:713 HCL-V Disease_Ontology DOID:7132 DOID:7132 urinary bladder small cell neuroendocrine carcinoma Disease_Ontology DOID:7133 DOID:7133 gallbladder small cell carcinoma Disease_Ontology DOID:7134 DOID:7134 esophagus small cell carcinoma Disease_Ontology DOID:7136 DOID:7136 ampulla of Vater small cell carcinoma Disease_Ontology DOID:7138 DOID:7138 cystitis cystica Disease_Ontology DOID:7139 DOID:7139 endometrial small cell carcinoma Disease_Ontology DOID:7140 DOID:7140 Bartholin's gland small cell carcinoma Disease_Ontology DOID:7141 DOID:7141 prostate small cell carcinoma Disease_Ontology DOID:7142 DOID:7142 thymus small cell carcinoma Disease_Ontology DOID:7144 DOID:7144 laryngeal small cell carcinoma Disease_Ontology DOID:7146 DOID:7146 Langerhans cell sarcoma Disease_Ontology DOID:7147 DOID:7147 ankylosing spondylitis Disease_Ontology DOID:7148 DOID:7148 rheumatoid arthritis Disease_Ontology DOID:7152 DOID:7152 prostate stromal sarcoma Disease_Ontology DOID:7154 DOID:7154 anaplastic oligodendroglioma Disease_Ontology DOID:7160 DOID:7160 rectal leiomyoma Disease_Ontology DOID:7165 DOID:7165 subacute thyroiditis Disease_Ontology DOID:7166 DOID:7166 thyroiditis Disease_Ontology DOID:7168 DOID:7168 lung occult adenocarcinoma Disease_Ontology DOID:7169 DOID:7169 lung occult large cell carcinoma Disease_Ontology DOID:7173 DOID:7173 cloacogenic carcinoma Disease_Ontology DOID:7174 DOID:7174 anus basaloid carcinoma Disease_Ontology DOID:7175 DOID:7175 anal Buschke-Lowenstein tumor Disease_Ontology DOID:7177 DOID:7177 anal canal squamous cell carcinoma Disease_Ontology DOID:7179 DOID:7179 mixed eosinophil-basophil adenoma Disease_Ontology DOID:718 DOID:718 autoimmune hemolytic anemia Disease_Ontology DOID:7181 DOID:7181 benign dermal neurilemmoma Disease_Ontology DOID:7187 DOID:7187 subacute lymphocytic thyroiditis Disease_Ontology DOID:7188 DOID:7188 autoimmune thyroiditis Disease_Ontology DOID:7191 DOID:7191 ovarian endometrioid cystadenoma Disease_Ontology DOID:7192 DOID:7192 hereditary conventional renal cell carcinoma Disease_Ontology DOID:7198 DOID:7198 maxillary sinus adenoid cystic carcinoma Disease_Ontology DOID:720 DOID:720 normocytic anemia Disease_Ontology DOID:7202 DOID:7202 intermediate malignant teratoma Disease_Ontology DOID:7206 DOID:7206 melanomatosis Disease_Ontology DOID:7207 DOID:7207 lung combined large cell neuroendocrine carcinoma Disease_Ontology DOID:7210 DOID:7210 psammomatous meningioma Disease_Ontology DOID:7211 DOID:7211 fibrous meningioma Disease_Ontology DOID:7212 DOID:7212 meningothelial meningioma Disease_Ontology DOID:7213 DOID:7213 transitional meningioma Disease_Ontology DOID:7214 DOID:7214 noninvasive malignant thymoma Disease_Ontology DOID:7221 DOID:7221 gallbladder papillary carcinoma Disease_Ontology DOID:7222 DOID:7222 gallbladder pleomorphic giant cell adenocarcinoma Disease_Ontology DOID:7223 DOID:7223 breast giant fibroadenoma Disease_Ontology DOID:7224 DOID:7224 spinal meninges cancer Disease_Ontology DOID:7230 DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma Disease_Ontology DOID:7231 DOID:7231 childhood CNS embryonal cell carcinoma Disease_Ontology DOID:7232 DOID:7232 central nervous system embryonal carcinoma Disease_Ontology DOID:7233 DOID:7233 adult central nervous system embryonal carcinoma Disease_Ontology DOID:7234 DOID:7234 mucinous cystadenocarcinoma of pancreas Disease_Ontology DOID:7235 DOID:7235 pancreatic mucinous cystadenoma Disease_Ontology DOID:7236 DOID:7236 pancreatic invasive mucinous cystadenocarcinoma Disease_Ontology DOID:7237 DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma Disease_Ontology DOID:724 DOID:724 female stress incontinence Disease_Ontology DOID:7241 DOID:7241 uterine corpus apoplectic leiomyoma Disease_Ontology DOID:7242 DOID:7242 uterine corpus cellular leiomyoma Disease_Ontology DOID:7244 DOID:7244 bladder urachal urothelial carcinoma Disease_Ontology DOID:7246 DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma Disease_Ontology DOID:7263 DOID:7263 selective IgD deficiency disease Disease_Ontology DOID:7266 DOID:7266 hereditary fallopian tube carcinoma Disease_Ontology DOID:7267 DOID:7267 lung clear cell carcinoma Disease_Ontology DOID:7269 DOID:7269 cribriform variant testicular seminoma Disease_Ontology DOID:727 DOID:727 premenstrual tension Disease_Ontology DOID:728 DOID:728 nodular episcleritis Disease_Ontology DOID:7280 DOID:7280 congenital epulis Disease_Ontology DOID:7281 DOID:7281 uterine corpus adenocarcinofibroma Disease_Ontology DOID:7284 DOID:7284 Skene gland carcinoma Disease_Ontology DOID:7289 DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant Disease_Ontology DOID:7293 DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma Disease_Ontology DOID:7297 DOID:7297 childhood extraosseous osteosarcoma Disease_Ontology DOID:730 DOID:730 urethral benign neoplasm Disease_Ontology DOID:7302 DOID:7302 endodermal sinus pattern testicular yolk sac tumor Disease_Ontology DOID:7305 DOID:7305 astroblastoma Disease_Ontology DOID:731 DOID:731 urinary system benign neoplasm Disease_Ontology DOID:7312 DOID:7312 breast adenomyoepithelial adenosis Disease_Ontology DOID:7315 DOID:7315 Jewett-Marshall bladder cancer Disease_Ontology DOID:7319 DOID:7319 axonal neuropathy Disease_Ontology DOID:732 DOID:732 urethral disease Disease_Ontology DOID:7320 DOID:7320 ovarian serous cystadenofibroma Disease_Ontology DOID:7326 DOID:7326 cranial pseudosarcomatous fasciitis Disease_Ontology DOID:7327 DOID:7327 pseudosarcomatous fibromatosis Disease_Ontology DOID:7328 DOID:7328 iris spindle cell melanoma Disease_Ontology DOID:7332 DOID:7332 esophageal tuberculosis Disease_Ontology DOID:7333 DOID:7333 nephrogenic adenoma of urinary bladder Disease_Ontology DOID:7334 DOID:7334 nephrogenic adenoma Disease_Ontology DOID:734 DOID:734 urethra cancer Disease_Ontology DOID:7340 DOID:7340 childhood ovarian dysgerminoma Disease_Ontology DOID:7347 DOID:7347 ovarian stromal hyperthecosis Disease_Ontology DOID:7350 DOID:7350 thymic dysplasia Disease_Ontology DOID:7356 DOID:7356 rectum sarcomatoid carcinoma Disease_Ontology DOID:736 DOID:736 male urethral cancer Disease_Ontology DOID:7360 DOID:7360 solid pattern testicular yolk sac tumor Disease_Ontology DOID:7363 DOID:7363 vulvar keratinizing squamous cell carcinoma Disease_Ontology DOID:7365 DOID:7365 Kimura disease Disease_Ontology DOID:7371 DOID:7371 superficial urinary bladder cancer Disease_Ontology DOID:7378 DOID:7378 pituitary hypoplasia Disease_Ontology DOID:7379 DOID:7379 adrenal medulla carcinoma Disease_Ontology DOID:738 DOID:738 female urethral cancer Disease_Ontology DOID:7380 DOID:7380 squamous cell papilloma of skin Disease_Ontology DOID:7381 DOID:7381 lymphohistiocytoid mesothelioma Disease_Ontology DOID:7388 DOID:7388 pulmonary vein leiomyosarcoma Disease_Ontology DOID:7389 DOID:7389 pulmonary artery leiomyosarcoma Disease_Ontology DOID:7390 DOID:7390 superior vena cava leiomyosarcoma Disease_Ontology DOID:7398 DOID:7398 cerebral primitive neuroectodermal tumor Disease_Ontology DOID:74 DOID:74 hematopoietic system disease Disease_Ontology DOID:7400 DOID:7400 Nijmegen breakage syndrome Disease_Ontology DOID:7401 DOID:7401 colonic L-cell glucagon-like peptide producing tumor Disease_Ontology DOID:7402 DOID:7402 L-cell glucagon-like peptide producing tumor Disease_Ontology DOID:7408 DOID:7408 vulvar keratoacanthoma Disease_Ontology DOID:7409 DOID:7409 vulvar non-keratinizing squamous cell carcinoma Disease_Ontology DOID:7411 DOID:7411 ovarian endometrioid cystadenofibroma Disease_Ontology DOID:7426 DOID:7426 cutaneous anthrax Disease_Ontology DOID:7427 DOID:7427 anthrax disease Disease_Ontology DOID:7428 DOID:7428 pineal region germinoma Disease_Ontology DOID:7429 DOID:7429 childhood brain germinoma Disease_Ontology DOID:743 DOID:743 dermatographia Disease_Ontology DOID:7430 DOID:7430 childhood germ cell brain tumor Disease_Ontology DOID:7435 DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor Disease_Ontology DOID:7436 DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma Disease_Ontology DOID:7437 DOID:7437 uterus perivascular epithelioid cell tumor Disease_Ontology DOID:7438 DOID:7438 ovarian clear cell cystadenocarcinoma Disease_Ontology DOID:7439 DOID:7439 polyp of middle ear Disease_Ontology DOID:7441 DOID:7441 chronic metabolic polyneuropathy Disease_Ontology DOID:7442 DOID:7442 monoclonal gammopathy of uncertain significance Disease_Ontology DOID:745 DOID:745 epididymis adenomatoid tumor Disease_Ontology DOID:7457 DOID:7457 enterobiasis Disease_Ontology DOID:7459 DOID:7459 acantholytic variant squamous cell breast carcinoma Disease_Ontology DOID:746 DOID:746 adenomatoid tumor Disease_Ontology DOID:7460 DOID:7460 spindle cell variant squamous cell breast carcinoma Disease_Ontology DOID:7461 DOID:7461 large cell keratinizing variant squamous cell breast carcinoma Disease_Ontology DOID:7463 DOID:7463 childhood pleomorphic rhabdomyosarcoma Disease_Ontology DOID:7465 DOID:7465 chronic NK-cell lymphocytosis Disease_Ontology DOID:7474 DOID:7474 malignant pleural mesothelioma Disease_Ontology DOID:7475 DOID:7475 diverticulitis Disease_Ontology DOID:7479 DOID:7479 duodenal somatostatinoma Disease_Ontology DOID:7480 DOID:7480 large cell carcinoma with rhabdoid phenotype Disease_Ontology DOID:7482 DOID:7482 petrous apex meningioma Disease_Ontology DOID:7483 DOID:7483 cervical keratinizing squamous cell carcinoma Disease_Ontology DOID:7488 DOID:7488 posterior urethra cancer Disease_Ontology DOID:7489 DOID:7489 Osgood-Schlatter's disease Disease_Ontology DOID:749 DOID:749 active peptic ulcer disease Disease_Ontology DOID:7491 DOID:7491 vulvar proximal-type epithelioid sarcoma Disease_Ontology DOID:7492 DOID:7492 central epithelioid sarcoma Disease_Ontology DOID:7497 DOID:7497 brain ependymoma Disease_Ontology DOID:75 DOID:75 lymphatic system disease Disease_Ontology DOID:750 DOID:750 peptic ulcer disease Disease_Ontology DOID:7501 DOID:7501 childhood infratentorial ependymoma Disease_Ontology DOID:7502 DOID:7502 childhood supratentorial ependymoma Disease_Ontology DOID:7503 DOID:7503 extrahepatic bile duct papillary adenoma Disease_Ontology DOID:7505 DOID:7505 small intestine benign neoplasm Disease_Ontology DOID:7506 DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor Disease_Ontology DOID:7511 DOID:7511 breast intraductal papillomatosis Disease_Ontology DOID:7514 DOID:7514 Wolffian adnexal neoplasm Disease_Ontology DOID:7515 DOID:7515 lumbar spinal canal and spinal cord meningioma Disease_Ontology DOID:7516 DOID:7516 childhood central nervous system mixed germ cell tumor Disease_Ontology DOID:7518 DOID:7518 inhibited female orgasm Disease_Ontology DOID:7519 DOID:7519 endocervical carcinoma Disease_Ontology DOID:752 DOID:752 peptic ulcer perforation Disease_Ontology DOID:7520 DOID:7520 periductal breast myoepitheliosis Disease_Ontology DOID:7521 DOID:7521 breast myoepitheliosis Disease_Ontology DOID:7522 DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered Disease_Ontology DOID:7527 DOID:7527 acute gonococcal endometritis Disease_Ontology DOID:7528 DOID:7528 acute endometritis Disease_Ontology DOID:7531 DOID:7531 anal gland adenocarcinoma Disease_Ontology DOID:7532 DOID:7532 squamous papillomatosis Disease_Ontology DOID:7533 DOID:7533 subareolar duct papillomatosis Disease_Ontology DOID:7537 DOID:7537 breast cystic hypersecretory carcinoma Disease_Ontology DOID:7538 DOID:7538 breast ductal adenoma Disease_Ontology DOID:7539 DOID:7539 pregnancy adenoma Disease_Ontology DOID:754 DOID:754 bladder tuberculosis Disease_Ontology DOID:7540 DOID:7540 breast apocrine adenoma Disease_Ontology DOID:7541 DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma Disease_Ontology DOID:7542 DOID:7542 osteosarcoma arising in bone Paget's disease Disease_Ontology DOID:7549 DOID:7549 ceruminoma Disease_Ontology DOID:7551 DOID:7551 gonorrhea Disease_Ontology DOID:7553 DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant Disease_Ontology DOID:7558 DOID:7558 glossopharyngeal motor neuropathy Disease_Ontology DOID:7559 DOID:7559 asymmetric motor neuropathy Disease_Ontology DOID:7565 DOID:7565 vulvar eccrine porocarcinoma Disease_Ontology DOID:7566 DOID:7566 eccrine porocarcinoma Disease_Ontology DOID:7567 DOID:7567 vulvar clear cell hidradenocarcinoma Disease_Ontology DOID:7571 DOID:7571 malignant cystic nephroma Disease_Ontology DOID:7574 DOID:7574 pancreatic intraductal papillary-colloid carcinoma Disease_Ontology DOID:7575 DOID:7575 pancreatic intraductal papillary-mucinous neoplasm Disease_Ontology DOID:7577 DOID:7577 pancreatic foamy gland adenocarcinoma Disease_Ontology DOID:7578 DOID:7578 breast scirrhous carcinoma Disease_Ontology DOID:758 DOID:758 visceral heterotaxy 5 Disease_Ontology DOID:7583 DOID:7583 glottis verrucous carcinoma Disease_Ontology DOID:7584 DOID:7584 subglottis verrucous carcinoma Disease_Ontology DOID:7585 DOID:7585 subglottis squamous cell carcinoma Disease_Ontology DOID:7586 DOID:7586 supraglottis verrucous carcinoma Disease_Ontology DOID:7587 DOID:7587 supraglottis squamous cell carcinoma Disease_Ontology DOID:7591 DOID:7591 gestational ovarian choriocarcinoma Disease_Ontology DOID:7596 DOID:7596 asbestos-related lung carcinoma Disease_Ontology DOID:7598 DOID:7598 cervical lymphoepithelioma-like carcinoma Disease_Ontology DOID:7599 DOID:7599 lymphoepithelioma-like thymic carcinoma Disease_Ontology DOID:76 DOID:76 stomach disease Disease_Ontology DOID:7600 DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma Disease_Ontology DOID:7602 DOID:7602 conventional osteosarcoma Disease_Ontology DOID:7603 DOID:7603 fibrosarcomatous osteosarcoma Disease_Ontology DOID:7607 DOID:7607 chief cell adenoma Disease_Ontology DOID:7608 DOID:7608 parathyroid adenoma Disease_Ontology DOID:7609 DOID:7609 parathyroid transitional clear cell adenoma Disease_Ontology DOID:7610 DOID:7610 mixed cell type adenoma of parathyroid Disease_Ontology DOID:7611 DOID:7611 parathyroid oncocytic adenoma Disease_Ontology DOID:7612 DOID:7612 childhood intracortical osteosarcoma Disease_Ontology DOID:7613 DOID:7613 sarcomatosis of the meninges Disease_Ontology DOID:7614 DOID:7614 meninges sarcoma Disease_Ontology DOID:7615 DOID:7615 sarcomatosis Disease_Ontology DOID:7631 DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered Disease_Ontology DOID:7632 DOID:7632 Cowper gland carcinoma Disease_Ontology DOID:7633 DOID:7633 macular holes Disease_Ontology DOID:7634 DOID:7634 suprasellar meningioma Disease_Ontology DOID:7635 DOID:7635 Gasserian ganglion meningioma Disease_Ontology DOID:7639 DOID:7639 malignant granular cell skin tumor Disease_Ontology DOID:7642 DOID:7642 cholangiolocellular carcinoma Disease_Ontology DOID:7643 DOID:7643 acantholytic squamous cell skin carcinoma Disease_Ontology DOID:7646 DOID:7646 multiple spinal canal and spinal cord meningioma Disease_Ontology DOID:7650 DOID:7650 pulmonary type ovarian small cell carcinoma Disease_Ontology DOID:7651 DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type Disease_Ontology DOID:7656 DOID:7656 adult infiltrating astrocytic neoplasm Disease_Ontology DOID:7664 DOID:7664 endometrial mixed adenocarcinoma Disease_Ontology DOID:7665 DOID:7665 non-gestational ovarian choriocarcinoma Disease_Ontology DOID:767 DOID:767 muscular atrophy Disease_Ontology DOID:7675 DOID:7675 testicular fibroma Disease_Ontology DOID:7676 DOID:7676 testicular thecoma Disease_Ontology DOID:7678 DOID:7678 sphenoid sinus inverted papilloma Disease_Ontology DOID:7679 DOID:7679 sphenoid sinus Schneiderian papilloma Disease_Ontology DOID:768 DOID:768 retinoblastoma Disease_Ontology DOID:7684 DOID:7684 maxillary sinus adenocarcinoma Disease_Ontology DOID:7685 DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma Disease_Ontology DOID:7689 DOID:7689 leptomeninges sarcoma Disease_Ontology DOID:769 DOID:769 neuroblastoma Disease_Ontology DOID:7693 DOID:7693 abdominal aortic aneurysm Disease_Ontology DOID:7694 DOID:7694 bladder urachal adenocarcinoma Disease_Ontology DOID:7696 DOID:7696 lung hilum cancer Disease_Ontology DOID:7697 DOID:7697 pancreatic ACTH hormone producing tumor Disease_Ontology DOID:7698 DOID:7698 non-functioning pancreatic endocrine tumor Disease_Ontology DOID:77 DOID:77 gastrointestinal system disease Disease_Ontology DOID:7707 DOID:7707 rectum signet ring adenocarcinoma Disease_Ontology DOID:7708 DOID:7708 perianal skin Paget's disease Disease_Ontology DOID:771 DOID:771 retinal cell cancer Disease_Ontology DOID:7713 DOID:7713 tuberculum sellae meningioma Disease_Ontology DOID:7716 DOID:7716 mixed ductal-endocrine carcinoma Disease_Ontology DOID:7717 DOID:7717 colloid carcinoma of the pancreas Disease_Ontology DOID:7718 DOID:7718 osteoclast-like giant cell neoplasm of the pancreas Disease_Ontology DOID:7725 DOID:7725 epilepsy with generalized tonic-clonic seizures Disease_Ontology DOID:7729 DOID:7729 acinar cell cystadenocarcinoma Disease_Ontology DOID:7731 DOID:7731 childhood malignant hemangiopericytoma Disease_Ontology DOID:7732 DOID:7732 childhood malignant schwannoma Disease_Ontology DOID:7733 DOID:7733 signet ring cell intrahepatic cholangiocarcinoma Disease_Ontology DOID:7735 DOID:7735 pancreatic colloid cystadenoma Disease_Ontology DOID:7736 DOID:7736 retinal telangiectasia Disease_Ontology DOID:774 DOID:774 retina lymphoma Disease_Ontology DOID:7747 DOID:7747 childhood extraocular retinoblastoma Disease_Ontology DOID:775 DOID:775 intraocular lymphoma Disease_Ontology DOID:7750 DOID:7750 adult brain ependymoma Disease_Ontology DOID:7752 DOID:7752 extrahepatic biliary papillomatosis Disease_Ontology DOID:7756 DOID:7756 neonatal leukemia Disease_Ontology DOID:7757 DOID:7757 childhood leukemia Disease_Ontology DOID:7762 DOID:7762 childhood multilocular cystic kidney neoplasm Disease_Ontology DOID:7763 DOID:7763 carcinoma of supraglottis Disease_Ontology DOID:7764 DOID:7764 subglottis carcinoma Disease_Ontology DOID:7765 DOID:7765 Coats disease Disease_Ontology DOID:778 DOID:778 delusional disorder Disease_Ontology DOID:7787 DOID:7787 breast osteosarcoma Disease_Ontology DOID:7788 DOID:7788 adult spinal cord ependymoma Disease_Ontology DOID:780 DOID:780 placenta disease Disease_Ontology DOID:7806 DOID:7806 adult spinal cord glioblastoma multiforme Disease_Ontology DOID:7807 DOID:7807 choroid necrotic melanoma Disease_Ontology DOID:7808 DOID:7808 necrotic uveal melanoma Disease_Ontology DOID:7817 DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma Disease_Ontology DOID:7818 DOID:7818 petroclival meningioma Disease_Ontology DOID:7819 DOID:7819 sphenoorbital meningioma Disease_Ontology DOID:782 DOID:782 renal infectious disease Disease_Ontology DOID:7820 DOID:7820 sphenocavernous meningioma Disease_Ontology DOID:7824 DOID:7824 spinal multifocal clear cell meningioma Disease_Ontology DOID:7825 DOID:7825 chronic toxic polyneuropathy Disease_Ontology DOID:7826 DOID:7826 adult papillary meningioma Disease_Ontology DOID:7827 DOID:7827 adult extraosseous osteosarcoma Disease_Ontology DOID:783 DOID:783 end stage renal disease Disease_Ontology DOID:7839 DOID:7839 infiltrating nipple syringomatous adenoma Disease_Ontology DOID:784 DOID:784 chronic kidney disease Disease_Ontology DOID:7840 DOID:7840 pancreatic non-functioning delta cell tumor Disease_Ontology DOID:7841 DOID:7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered Disease_Ontology DOID:7843 DOID:7843 female breast carcinoma Disease_Ontology DOID:7848 DOID:7848 interdigitating dendritic cell sarcoma Disease_Ontology DOID:7849 DOID:7849 dendritic cell sarcoma Disease_Ontology DOID:7851 DOID:7851 pancreatic intraductal papillary-mucinous adenoma Disease_Ontology DOID:786 DOID:786 laryngeal disease Disease_Ontology DOID:7867 DOID:7867 adult central nervous system germinoma Disease_Ontology DOID:7868 DOID:7868 maxillary sinus inverted papilloma Disease_Ontology DOID:7875 DOID:7875 adult xanthogranuloma Disease_Ontology DOID:7878 DOID:7878 uterine corpus atypical polypoid adenomyoma Disease_Ontology DOID:7880 DOID:7880 luteoma Disease_Ontology DOID:7891 DOID:7891 testicular spermatocytic seminoma Disease_Ontology DOID:7894 DOID:7894 mite infestation Disease_Ontology DOID:790 DOID:790 ocular hypotension Disease_Ontology DOID:7902 DOID:7902 adult extraskeletal myxoid chondrosarcoma Disease_Ontology DOID:7903 DOID:7903 intracranial chondrosarcoma Disease_Ontology DOID:7907 DOID:7907 mixed astrocytoma-ependymoma Disease_Ontology DOID:7910 DOID:7910 maxillary sinus squamous cell carcinoma Disease_Ontology DOID:7912 DOID:7912 mixed oligodendroglioma-astrocytoma Disease_Ontology DOID:7915 DOID:7915 cervical spinal canal and spinal cord meningioma Disease_Ontology DOID:7921 DOID:7921 mediastinal psammomatous neurilemmoma Disease_Ontology DOID:7926 DOID:7926 epithelial malignant thymoma Disease_Ontology DOID:7927 DOID:7927 malignant type A thymoma Disease_Ontology DOID:7928 DOID:7928 testis refractory cancer Disease_Ontology DOID:7930 DOID:7930 glandular-alveolar pattern testicular yolk sac tumor Disease_Ontology DOID:7936 DOID:7936 refractory T lymphoblastic leukemia/lymphoma Disease_Ontology DOID:7941 DOID:7941 Barrett's adenocarcinoma Disease_Ontology DOID:7945 DOID:7945 adult central nervous system mixed germ cell tumor Disease_Ontology DOID:7949 DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma Disease_Ontology DOID:7951 DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma Disease_Ontology DOID:7953 DOID:7953 nipple duct carcinoma Disease_Ontology DOID:7958 DOID:7958 sarcomatoid penile squamous cell carcinoma Disease_Ontology DOID:7959 DOID:7959 duodenal gastrinoma Disease_Ontology DOID:7960 DOID:7960 malignant spiradenoma Disease_Ontology DOID:7961 DOID:7961 cervical non-keratinizing squamous cell carcinoma Disease_Ontology DOID:7962 DOID:7962 tamoxifen-related endometrial lesion Disease_Ontology DOID:7967 DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma Disease_Ontology DOID:7968 DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma Disease_Ontology DOID:7969 DOID:7969 nested variant infiltrating bladder urothelial carcinoma Disease_Ontology DOID:7971 DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma Disease_Ontology DOID:7972 DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma Disease_Ontology DOID:7983 DOID:7983 breast malignant eccrine spiradenoma Disease_Ontology DOID:7984 DOID:7984 sclerosing breast papilloma Disease_Ontology DOID:7986 DOID:7986 cerebral falx meningioma Disease_Ontology DOID:799 DOID:799 varicose veins Disease_Ontology DOID:7994 DOID:7994 central nervous system osteosarcoma Disease_Ontology DOID:7996 DOID:7996 familial glomangioma Disease_Ontology DOID:7997 DOID:7997 thyrotoxicosis Disease_Ontology DOID:7998 DOID:7998 hyperthyroidism Disease_Ontology DOID:8000 DOID:8000 frontal convexity meningioma Disease_Ontology DOID:8002 DOID:8002 supraglottis neoplasm Disease_Ontology DOID:8003 DOID:8003 alveoli adenoma Disease_Ontology DOID:8006 DOID:8006 skin meningioma Disease_Ontology DOID:8007 DOID:8007 Pancoast tumor Disease_Ontology DOID:8009 DOID:8009 penis mixed squamous cell carcinoma Disease_Ontology DOID:801 DOID:801 hemarthrosis Disease_Ontology DOID:8012 DOID:8012 benign pericardial teratoma Disease_Ontology DOID:8013 DOID:8013 penis papillary carcinoma Disease_Ontology DOID:8020 DOID:8020 glomangiomyoma Disease_Ontology DOID:8022 DOID:8022 liver fibrosarcoma Disease_Ontology DOID:8023 DOID:8023 myxoid liposarcoma of the ovary Disease_Ontology DOID:8025 DOID:8025 gastric signet ring cell adenocarcinoma Disease_Ontology DOID:8029 DOID:8029 sporadic breast cancer Disease_Ontology DOID:8030 DOID:8030 periocular meningioma Disease_Ontology DOID:8031 DOID:8031 pineal region meningioma Disease_Ontology DOID:8036 DOID:8036 childhood ovarian embryonal carcinoma Disease_Ontology DOID:8042 DOID:8042 testis polyembryoma Disease_Ontology DOID:8043 DOID:8043 chest wall parachordoma Disease_Ontology DOID:8050 DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma Disease_Ontology DOID:8051 DOID:8051 bladder papillary clear cell adenocarcinoma Disease_Ontology DOID:8057 DOID:8057 olfactory groove meningioma Disease_Ontology DOID:8058 DOID:8058 pituitary stalk meningioma Disease_Ontology DOID:8060 DOID:8060 frontal sinus inverted papilloma Disease_Ontology DOID:8068 DOID:8068 intraductal breast myoepitheliosis Disease_Ontology DOID:807 DOID:807 carotid artery occlusion Disease_Ontology DOID:8072 DOID:8072 sarcomatous intrahepatic cholangiocarcinoma Disease_Ontology DOID:8078 DOID:8078 childhood central nervous system germinoma Disease_Ontology DOID:8081 DOID:8081 myxomatous pattern testicular yolk sac tumor Disease_Ontology DOID:8082 DOID:8082 cellular congenital mesoblastic nephroma Disease_Ontology DOID:8083 DOID:8083 classic congenital mesoblastic nephroma Disease_Ontology DOID:809 DOID:809 cocaine abuse Disease_Ontology DOID:8093 DOID:8093 maxillary sinus Schneiderian papilloma Disease_Ontology DOID:8096 DOID:8096 bladder mixed adenocarcinoma Disease_Ontology DOID:8097 DOID:8097 bladder hepatoid adenocarcinoma Disease_Ontology DOID:8102 DOID:8102 fetal adenoma Disease_Ontology DOID:8104 DOID:8104 vaginal tubulovillous adenoma Disease_Ontology DOID:8105 DOID:8105 extrahepatic bile duct cystadenoma Disease_Ontology DOID:8106 DOID:8106 cellular phase chronic idiopathic myelofibrosis Disease_Ontology DOID:8108 DOID:8108 fibroepithelial polyp of urethra Disease_Ontology DOID:8109 DOID:8109 nephrogenic adenoma of the urethra Disease_Ontology DOID:811 DOID:811 lipodystrophy Disease_Ontology DOID:8110 DOID:8110 periampullary adenocarcinoma Disease_Ontology DOID:8117 DOID:8117 neuronitis Disease_Ontology DOID:8118 DOID:8118 mature gastric teratoma Disease_Ontology DOID:8119 DOID:8119 anal canal Paget's disease Disease_Ontology DOID:8122 DOID:8122 pseudovascular skin squamous cell carcinoma Disease_Ontology DOID:8125 DOID:8125 osteochondrosis Disease_Ontology DOID:813 DOID:813 septic arthritis Disease_Ontology DOID:8130 DOID:8130 breast columnar cell mucinous carcinoma Disease_Ontology DOID:8133 DOID:8133 epiglottis cancer Disease_Ontology DOID:8135 DOID:8135 gallbladder lymphoma Disease_Ontology DOID:8137 DOID:8137 thymus clear cell carcinoma Disease_Ontology DOID:8138 DOID:8138 thymus sarcomatoid carcinoma Disease_Ontology DOID:8140 DOID:8140 adrenal gland ganglioneuroblastoma Disease_Ontology DOID:8144 DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma Disease_Ontology DOID:8149 DOID:8149 malignant childhood germ cell neoplasm Disease_Ontology DOID:8150 DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma Disease_Ontology DOID:8151 DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor Disease_Ontology DOID:8153 DOID:8153 fibroosseous pseudotumor of digits Disease_Ontology DOID:8158 DOID:8158 complement component 5 deficiency Disease_Ontology DOID:8161 DOID:8161 oncocytic carcinoma of the thyroid Disease_Ontology DOID:8162 DOID:8162 thyroid Hurthle cell adenoma Disease_Ontology DOID:8167 DOID:8167 gallbladder melanoma Disease_Ontology DOID:817 DOID:817 interstitial myocarditis Disease_Ontology DOID:8170 DOID:8170 fibroepithelial polyp of the anus Disease_Ontology DOID:8177 DOID:8177 endocervical type cervical adenomyoma Disease_Ontology DOID:8178 DOID:8178 endometrial type cervical adenomyoma Disease_Ontology DOID:8179 DOID:8179 cervical atypical polypoid adenomyoma Disease_Ontology DOID:8186 DOID:8186 fallopian tube gestational choriocarcinoma Disease_Ontology DOID:8187 DOID:8187 gestational uterine corpus choriocarcinoma Disease_Ontology DOID:8188 DOID:8188 uterine corpus choriocarcinoma Disease_Ontology DOID:819 DOID:819 mediastinitis Disease_Ontology DOID:8193 DOID:8193 papillary pattern testicular yolk sac tumor Disease_Ontology DOID:8195 DOID:8195 hepatoid pattern testicular yolk sac tumor Disease_Ontology DOID:82 DOID:82 myotonic cataract Disease_Ontology DOID:820 DOID:820 myocarditis Disease_Ontology DOID:8200 DOID:8200 tertiary syphilis Disease_Ontology DOID:8203 DOID:8203 sacral spinal canal and spinal cord meningioma Disease_Ontology DOID:8207 DOID:8207 hilar lung carcinoma Disease_Ontology DOID:8208 DOID:8208 lung superior sulcus carcinoma Disease_Ontology DOID:8211 DOID:8211 fallopian tube cystadenofibroma Disease_Ontology DOID:8216 DOID:8216 parapharyngeal meningioma Disease_Ontology DOID:8221 DOID:8221 upper clivus meningioma Disease_Ontology DOID:8223 DOID:8223 penile urethral cancer Disease_Ontology DOID:8224 DOID:8224 central breast papilloma Disease_Ontology DOID:8225 DOID:8225 microscopic breast papilloma Disease_Ontology DOID:8227 DOID:8227 atypical breast papilloma Disease_Ontology DOID:823 DOID:823 periapical periodontitis Disease_Ontology DOID:8230 DOID:8230 intrahepatic biliary papillomatosis Disease_Ontology DOID:8233 DOID:8233 inflammatory liposarcoma Disease_Ontology DOID:8239 DOID:8239 lower clivus meningioma Disease_Ontology DOID:824 DOID:824 periodontitis Disease_Ontology DOID:8243 DOID:8243 meningeal melanomatosis Disease_Ontology DOID:8251 DOID:8251 adult pleomorphic rhabdomyosarcoma Disease_Ontology DOID:8252 DOID:8252 chronic rhinitis Disease_Ontology DOID:8255 DOID:8255 vulva fibroepithelial polyp Disease_Ontology DOID:8256 DOID:8256 olfactory neural tumor Disease_Ontology DOID:8259 DOID:8259 bulbomembranous urethral cancer Disease_Ontology DOID:827 DOID:827 ureter tuberculosis Disease_Ontology DOID:8272 DOID:8272 anterior urethra cancer Disease_Ontology DOID:8274 DOID:8274 synovial angioma Disease_Ontology DOID:8275 DOID:8275 intratubular embryonal carcinoma Disease_Ontology DOID:8282 DOID:8282 adult epithelioid sarcoma Disease_Ontology DOID:8283 DOID:8283 peritonitis Disease_Ontology DOID:8288 DOID:8288 clear cell squamous cell skin carcinoma Disease_Ontology DOID:8292 DOID:8292 atypical follicular adenoma Disease_Ontology DOID:8295 DOID:8295 scabies Disease_Ontology DOID:83 DOID:83 cataract Disease_Ontology DOID:8302 DOID:8302 mixed endometrial stromal and smooth muscle tumor Disease_Ontology DOID:8303 DOID:8303 congenital granular cell tumor Disease_Ontology DOID:8304 DOID:8304 lymph node palisaded myofibroblastoma Disease_Ontology DOID:8305 DOID:8305 nonossifying fibromyxoid tumor Disease_Ontology DOID:8307 DOID:8307 early invasive cervical adenocarcinoma Disease_Ontology DOID:8310 DOID:8310 sclerosing adenosis of breast Disease_Ontology DOID:833 DOID:833 auditory system cancer Disease_Ontology DOID:8331 DOID:8331 perineural angioma Disease_Ontology DOID:8335 DOID:8335 microglandular adenosis of breast Disease_Ontology DOID:8336 DOID:8336 childhood choriocarcinoma of the ovary Disease_Ontology DOID:8337 DOID:8337 appendicitis Disease_Ontology DOID:8338 DOID:8338 villoglandular variant cervical mucinous adenocarcinoma Disease_Ontology DOID:8339 DOID:8339 intestinal variant cervical mucinous adenocarcinoma Disease_Ontology DOID:8340 DOID:8340 endocervical type cervical mucinous adenocarcinoma Disease_Ontology DOID:8352 DOID:8352 aortic malignant tumor Disease_Ontology DOID:8353 DOID:8353 epithelioid malignant peripheral nerve sheath tumor Disease_Ontology DOID:8354 DOID:8354 complement component 3 deficiency Disease_Ontology DOID:8358 DOID:8358 pseudoglandular variant testicular seminoma Disease_Ontology DOID:8361 DOID:8361 glassy cell variant cervical adenosquamous carcinoma Disease_Ontology DOID:8362 DOID:8362 enteric pattern testicular yolk sac tumor Disease_Ontology DOID:8368 DOID:8368 chordoid meningioma Disease_Ontology DOID:8369 DOID:8369 adult malignant schwannoma Disease_Ontology DOID:8389 DOID:8389 lumbar plexus neoplasm Disease_Ontology DOID:8392 DOID:8392 reticular pattern testicular yolk sac tumor Disease_Ontology DOID:8394 DOID:8394 adult type testicular granulosa cell tumor Disease_Ontology DOID:8398 DOID:8398 osteoarthritis Disease_Ontology DOID:8399 DOID:8399 trombiculiasis Disease_Ontology DOID:84 DOID:84 osteochondritis dissecans Disease_Ontology DOID:840 DOID:840 cork-handlers' disease Disease_Ontology DOID:8400 DOID:8400 malignant cornea melanoma Disease_Ontology DOID:8408 DOID:8408 Meckel's diverticulitis Disease_Ontology DOID:8409 DOID:8409 microinvasive cervical squamous cell carcinoma Disease_Ontology DOID:841 DOID:841 extrinsic allergic alveolitis Disease_Ontology DOID:8410 DOID:8410 childhood kidney angiomyolipoma Disease_Ontology DOID:8411 DOID:8411 kidney angiomyolipoma Disease_Ontology DOID:8415 DOID:8415 carcinoma arising in nasal papillomatosis Disease_Ontology DOID:8418 DOID:8418 congenital fibrosarcoma Disease_Ontology DOID:8419 DOID:8419 colloid adenoma Disease_Ontology DOID:8420 DOID:8420 malignant glandular tumor of peripheral nerve sheath Disease_Ontology DOID:8426 DOID:8426 follicular infundibulum tumor Disease_Ontology DOID:8427 DOID:8427 retinal melanoma Disease_Ontology DOID:8428 DOID:8428 breast apocrine carcinoma in situ Disease_Ontology DOID:8431 DOID:8431 physiological polycythemia Disease_Ontology DOID:8432 DOID:8432 polycythemia Disease_Ontology DOID:8433 DOID:8433 thyroid malformation Disease_Ontology DOID:8437 DOID:8437 intestinal obstruction Disease_Ontology DOID:8438 DOID:8438 afferent loop syndrome Disease_Ontology DOID:8439 DOID:8439 postgastrectomy syndrome Disease_Ontology DOID:8440 DOID:8440 ileus Disease_Ontology DOID:8442 DOID:8442 paralytic ileus Disease_Ontology DOID:8443 DOID:8443 brachial plexus lesion Disease_Ontology DOID:8445 DOID:8445 intestinal volvulus Disease_Ontology DOID:8446 DOID:8446 intussusception Disease_Ontology DOID:8448 DOID:8448 intestinal impaction Disease_Ontology DOID:845 DOID:845 cyclothymic disorder Disease_Ontology DOID:8454 DOID:8454 riboflavin deficiency Disease_Ontology DOID:8455 DOID:8455 pyridoxine deficiency anemia Disease_Ontology DOID:8456 DOID:8456 choline deficiency disease Disease_Ontology DOID:8457 DOID:8457 pellagra Disease_Ontology DOID:8461 DOID:8461 Aicardi syndrome Disease_Ontology DOID:8463 DOID:8463 corneal ulcer Disease_Ontology DOID:8464 DOID:8464 flat retinoschisis Disease_Ontology DOID:8465 DOID:8465 retinoschisis Disease_Ontology DOID:8466 DOID:8466 retinal degeneration Disease_Ontology DOID:8469 DOID:8469 influenza Disease_Ontology DOID:8472 DOID:8472 localized scleroderma Disease_Ontology DOID:8476 DOID:8476 Whipple disease Disease_Ontology DOID:8478 DOID:8478 actinomycosis Disease_Ontology DOID:848 DOID:848 arthritis Disease_Ontology DOID:8481 DOID:8481 rheumatic myocarditis Disease_Ontology DOID:8482 DOID:8482 transient retinal arterial occlusion Disease_Ontology DOID:8483 DOID:8483 retinal artery occlusion Disease_Ontology DOID:8484 DOID:8484 maple bark strippers' lung Disease_Ontology DOID:8485 DOID:8485 mucormycosis Disease_Ontology DOID:8488 DOID:8488 polyhydramnios Disease_Ontology DOID:849 DOID:849 rheumatoid arthritis interstitial lung disease Disease_Ontology DOID:8498 DOID:8498 hereditary night blindness Disease_Ontology DOID:8499 DOID:8499 night blindness Disease_Ontology DOID:850 DOID:850 lung disease Disease_Ontology DOID:8500 DOID:8500 hereditary retinal dystrophy Disease_Ontology DOID:8501 DOID:8501 fundus dystrophy Disease_Ontology DOID:8502 DOID:8502 bullous skin disease Disease_Ontology DOID:8503 DOID:8503 impetigo herpetiformis Disease_Ontology DOID:8504 DOID:8504 impetigo Disease_Ontology DOID:8505 DOID:8505 dermatitis herpetiformis Disease_Ontology DOID:8506 DOID:8506 bullous pemphigoid Disease_Ontology DOID:8507 DOID:8507 juvenile dermatitis herpetiformis Disease_Ontology DOID:8508 DOID:8508 subcorneal pustular dermatosis Disease_Ontology DOID:851 DOID:851 Bartholin's duct cyst Disease_Ontology DOID:8512 DOID:8512 puerperal pulmonary embolism Disease_Ontology DOID:8514 DOID:8514 acute pulmonary heart disease Disease_Ontology DOID:8515 DOID:8515 Cor pulmonale Disease_Ontology DOID:8516 DOID:8516 pulmonary embolism and infarction Disease_Ontology DOID:8517 DOID:8517 acute cor pulmonale Disease_Ontology DOID:8519 DOID:8519 barbiturate abuse Disease_Ontology DOID:8527 DOID:8527 monocytic leukemia Disease_Ontology DOID:8529 DOID:8529 ulcer of lower limbs Disease_Ontology DOID:853 DOID:853 polymyalgia rheumatica Disease_Ontology DOID:8533 DOID:8533 hypopharynx cancer Disease_Ontology DOID:8534 DOID:8534 gastroesophageal reflux disease Disease_Ontology DOID:8536 DOID:8536 herpes zoster Disease_Ontology DOID:8538 DOID:8538 reticulosarcoma Disease_Ontology DOID:854 DOID:854 collagen disease Disease_Ontology DOID:8541 DOID:8541 Sezary's disease Disease_Ontology DOID:8543 DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance Disease_Ontology DOID:8544 DOID:8544 chronic fatigue syndrome Disease_Ontology DOID:8545 DOID:8545 malignant hyperthermia Disease_Ontology DOID:8549 DOID:8549 chronic ulcer of skin Disease_Ontology DOID:8552 DOID:8552 chronic myeloid leukemia Disease_Ontology DOID:8553 DOID:8553 pyoderma gangrenosum Disease_Ontology DOID:8556 DOID:8556 vallecula cancer Disease_Ontology DOID:8557 DOID:8557 oropharynx cancer Disease_Ontology DOID:856 DOID:856 biotinidase deficiency Disease_Ontology DOID:8564 DOID:8564 lip cancer Disease_Ontology DOID:8566 DOID:8566 herpes simplex Disease_Ontology DOID:8567 DOID:8567 Hodgkin's lymphoma Disease_Ontology DOID:8568 DOID:8568 infectious mononucleosis Disease_Ontology DOID:857 DOID:857 multiple carboxylase deficiency Disease_Ontology DOID:8573 DOID:8573 lichen nitidus Disease_Ontology DOID:8574 DOID:8574 lichen disease Disease_Ontology DOID:8577 DOID:8577 ulcerative colitis Disease_Ontology DOID:8578 DOID:8578 soft palate cancer Disease_Ontology DOID:8584 DOID:8584 Burkitt lymphoma Disease_Ontology DOID:859 DOID:859 holocarboxylase synthetase deficiency Disease_Ontology DOID:8590 DOID:8590 acute vascular insufficiency of intestine Disease_Ontology DOID:8593 DOID:8593 chronic monocytic leukemia Disease_Ontology DOID:8596 DOID:8596 scarlet fever Disease_Ontology DOID:8601 DOID:8601 upper gum cancer Disease_Ontology DOID:8602 DOID:8602 gum cancer Disease_Ontology DOID:8607 DOID:8607 herpetic whitlow Disease_Ontology DOID:8616 DOID:8616 Peyronie's disease Disease_Ontology DOID:8618 DOID:8618 oral cavity cancer Disease_Ontology DOID:8619 DOID:8619 recurrent hypersomnia Disease_Ontology DOID:862 DOID:862 diplegia of upper limb Disease_Ontology DOID:8622 DOID:8622 measles Disease_Ontology DOID:8628 DOID:8628 Hodgkin's lymphoma, lymphocytic depletion Disease_Ontology DOID:863 DOID:863 nervous system disease Disease_Ontology DOID:8630 DOID:8630 upper lip cancer Disease_Ontology DOID:8632 DOID:8632 Kaposi's sarcoma Disease_Ontology DOID:8633 DOID:8633 chronic intestinal vascular insufficiency Disease_Ontology DOID:8634 DOID:8634 prostate carcinoma in situ Disease_Ontology DOID:8635 DOID:8635 uvula cancer Disease_Ontology DOID:864 DOID:864 phlebitis Disease_Ontology DOID:8642 DOID:8642 Hodgkin's paragranuloma Disease_Ontology DOID:8643 DOID:8643 duodenitis Disease_Ontology DOID:8644 DOID:8644 gastroduodenitis Disease_Ontology DOID:8645 DOID:8645 subacute delirium Disease_Ontology DOID:8646 DOID:8646 substance-induced psychosis Disease_Ontology DOID:8649 DOID:8649 tongue cancer Disease_Ontology DOID:865 DOID:865 vasculitis Disease_Ontology DOID:8651 DOID:8651 Hodgkin's granuloma Disease_Ontology DOID:8654 DOID:8654 Hodgkin's lymphoma, mixed cellularity Disease_Ontology DOID:8659 DOID:8659 chickenpox Disease_Ontology DOID:866 DOID:866 vein disease Disease_Ontology DOID:8660 DOID:8660 postcricoid region cancer Disease_Ontology DOID:8661 DOID:8661 lip carcinoma in situ Disease_Ontology DOID:8663 DOID:8663 aryepiglottic fold cancer Disease_Ontology DOID:867 DOID:867 maxillary sinus cholesteatoma Disease_Ontology DOID:8670 DOID:8670 eating disorder Disease_Ontology DOID:8672 DOID:8672 viral exanthem Disease_Ontology DOID:8677 DOID:8677 perinatal necrotizing enterocolitis Disease_Ontology DOID:8680 DOID:8680 alcoholic gastritis Disease_Ontology DOID:8681 DOID:8681 paraneoplastic polyneuropathy Disease_Ontology DOID:8683 DOID:8683 myeloid sarcoma Disease_Ontology DOID:8687 DOID:8687 skin carcinoma in situ Disease_Ontology DOID:8688 DOID:8688 tonsillar pillar cancer Disease_Ontology DOID:8689 DOID:8689 anorexia nervosa Disease_Ontology DOID:869 DOID:869 cholesteatoma Disease_Ontology DOID:8691 DOID:8691 mycosis fungoides Disease_Ontology DOID:8692 DOID:8692 myeloid leukemia Disease_Ontology DOID:8696 DOID:8696 subacute monocytic leukemia Disease_Ontology DOID:870 DOID:870 neuropathy Disease_Ontology DOID:8702 DOID:8702 cheek mucosa cancer Disease_Ontology DOID:8704 DOID:8704 genital herpes Disease_Ontology DOID:8712 DOID:8712 neurofibromatosis Disease_Ontology DOID:8717 DOID:8717 decubitus ulcer Disease_Ontology DOID:8719 DOID:8719 in situ carcinoma Disease_Ontology DOID:8725 DOID:8725 vascular dementia Disease_Ontology DOID:8729 DOID:8729 milker's nodule Disease_Ontology DOID:873 DOID:873 anaerobic pneumonia Disease_Ontology DOID:8731 DOID:8731 carotid body cancer Disease_Ontology DOID:8736 DOID:8736 smallpox Disease_Ontology DOID:8738 DOID:8738 leukoplakia of penis Disease_Ontology DOID:874 DOID:874 bacterial pneumonia Disease_Ontology DOID:8741 DOID:8741 seborrheic dermatitis Disease_Ontology DOID:8743 DOID:8743 erythema infectiosum Disease_Ontology DOID:8757 DOID:8757 gastric mucosal hypertrophy Disease_Ontology DOID:876 DOID:876 pyomyositis Disease_Ontology DOID:8761 DOID:8761 acute megakaryocytic leukemia Disease_Ontology DOID:8771 DOID:8771 contagious pustular dermatitis Disease_Ontology DOID:8778 DOID:8778 Crohn's disease Disease_Ontology DOID:8781 DOID:8781 rubella Disease_Ontology DOID:8787 DOID:8787 disseminated chorioretinitis Disease_Ontology DOID:8791 DOID:8791 breast carcinoma in situ Disease_Ontology DOID:8792 DOID:8792 eye carcinoma in situ Disease_Ontology DOID:8800 DOID:8800 lung carcinoma in situ Disease_Ontology DOID:8802 DOID:8802 trachea carcinoma in situ Disease_Ontology DOID:8805 DOID:8805 intermediate coronary syndrome Disease_Ontology DOID:882 DOID:882 heterophyiasis Disease_Ontology DOID:8826 DOID:8826 colon carcinoma in situ Disease_Ontology DOID:883 DOID:883 parasitic helminthiasis infectious disease Disease_Ontology DOID:8838 DOID:8838 Hodgkin's lymphoma, nodular sclerosis Disease_Ontology DOID:884 DOID:884 metagonimiasis Disease_Ontology DOID:8849 DOID:8849 sublingual gland cancer Disease_Ontology DOID:885 DOID:885 fascioliasis Disease_Ontology DOID:8850 DOID:8850 salivary gland cancer Disease_Ontology DOID:8857 DOID:8857 lupus erythematosus Disease_Ontology DOID:8858 DOID:8858 tonsil cancer Disease_Ontology DOID:8861 DOID:8861 pulmonary subvalvular stenosis Disease_Ontology DOID:8864 DOID:8864 acute monocytic leukemia Disease_Ontology DOID:8866 DOID:8866 actinic keratosis Disease_Ontology DOID:8867 DOID:8867 molluscum contagiosum Disease_Ontology DOID:8869 DOID:8869 neuromyelitis optica Disease_Ontology DOID:8872 DOID:8872 penis carcinoma in situ Disease_Ontology DOID:888 DOID:888 fasciolopsiasis Disease_Ontology DOID:8881 DOID:8881 rosacea Disease_Ontology DOID:8883 DOID:8883 lower lip cancer Disease_Ontology DOID:8886 DOID:8886 chorioretinitis Disease_Ontology DOID:8892 DOID:8892 pityriasis rosea Disease_Ontology DOID:8893 DOID:8893 psoriasis Disease_Ontology DOID:890 DOID:890 mitochondrial encephalomyopathy Disease_Ontology DOID:891 DOID:891 progressive myoclonus epilepsy Disease_Ontology DOID:8912 DOID:8912 tinea nigra Disease_Ontology DOID:8913 DOID:8913 dermatophytosis Disease_Ontology DOID:8920 DOID:8920 leukoplakia of vagina Disease_Ontology DOID:8923 DOID:8923 skin melanoma Disease_Ontology DOID:8924 DOID:8924 autoimmune thrombocytopenic purpura Disease_Ontology DOID:8925 DOID:8925 primary thrombocytopenia Disease_Ontology DOID:8927 DOID:8927 learning disability Disease_Ontology DOID:8929 DOID:8929 atrophic gastritis Disease_Ontology DOID:893 DOID:893 Wilson disease Disease_Ontology DOID:8930 DOID:8930 retromolar area cancer Disease_Ontology DOID:8931 DOID:8931 Evans' syndrome Disease_Ontology DOID:8936 DOID:8936 plantar fascial fibromatosis Disease_Ontology DOID:8937 DOID:8937 Waldeyer's ring cancer Disease_Ontology DOID:8941 DOID:8941 seborrheic infantile dermatitis Disease_Ontology DOID:8943 DOID:8943 lattice corneal dystrophy Disease_Ontology DOID:8946 DOID:8946 severe nonproliferative diabetic retinopathy Disease_Ontology DOID:8947 DOID:8947 diabetic retinopathy Disease_Ontology DOID:8955 DOID:8955 sideroblastic anemia Disease_Ontology DOID:8956 DOID:8956 cowpox Disease_Ontology DOID:896 DOID:896 metal metabolism disorder Disease_Ontology DOID:8969 DOID:8969 tonsillar fossa cancer Disease_Ontology DOID:8970 DOID:8970 subacute sclerosing panencephalitis Disease_Ontology DOID:898 DOID:898 autosomal dominant polycystic kidney disease Disease_Ontology DOID:8986 DOID:8986 narcolepsy Disease_Ontology DOID:899 DOID:899 choledochal cyst Disease_Ontology DOID:8991 DOID:8991 cervix uteri carcinoma in situ Disease_Ontology DOID:8997 DOID:8997 polycythemia vera Disease_Ontology DOID:90 DOID:90 degenerative disc disease Disease_Ontology DOID:900 DOID:900 hepatopulmonary syndrome Disease_Ontology DOID:9007 DOID:9007 sudden infant death syndrome Disease_Ontology DOID:9008 DOID:9008 psoriatic arthritis Disease_Ontology DOID:901 DOID:901 liver lymphoma Disease_Ontology DOID:9011 DOID:9011 larynx carcinoma in situ Disease_Ontology DOID:9021 DOID:9021 esophageal leukoplakia Disease_Ontology DOID:9024 DOID:9024 intestine carcinoma in situ Disease_Ontology DOID:903 DOID:903 gastrointestinal lymphoma Disease_Ontology DOID:9036 DOID:9036 parotid gland cancer Disease_Ontology DOID:9042 DOID:9042 polyp of corpus uteri Disease_Ontology DOID:9043 DOID:9043 uterine cervix leukoplakia Disease_Ontology DOID:905 DOID:905 Zellweger syndrome Disease_Ontology DOID:9053 DOID:9053 bladder carcinoma in situ Disease_Ontology DOID:906 DOID:906 peroxisomal disease Disease_Ontology DOID:9060 DOID:9060 pityriasis versicolor Disease_Ontology DOID:9063 DOID:9063 Ritter's disease Disease_Ontology DOID:9065 DOID:9065 leishmaniasis Disease_Ontology DOID:907 DOID:907 liver fibroma Disease_Ontology DOID:9072 DOID:9072 lethal midline granuloma Disease_Ontology DOID:9074 DOID:9074 systemic lupus erythematosus Disease_Ontology DOID:9076 DOID:9076 discoid lupus erythematosus of eyelid Disease_Ontology DOID:9080 DOID:9080 macroglobulinemia Disease_Ontology DOID:9087 DOID:9087 anal carcinoma in situ Disease_Ontology DOID:9088 DOID:9088 parapsoriasis Disease_Ontology DOID:9091 DOID:9091 REM sleep behavior disorder Disease_Ontology DOID:9095 DOID:9095 esophagus carcinoma in situ Disease_Ontology DOID:9097 DOID:9097 erythematosquamous dermatosis Disease_Ontology DOID:9098 DOID:9098 sebaceous gland disease Disease_Ontology DOID:910 DOID:910 occipital lobe neoplasm Disease_Ontology DOID:9108 DOID:9108 uterus carcinoma in situ Disease_Ontology DOID:9111 DOID:9111 cutaneous leishmaniasis Disease_Ontology DOID:9113 DOID:9113 granuloma inguinale Disease_Ontology DOID:9119 DOID:9119 acute myeloid leukemia Disease_Ontology DOID:9120 DOID:9120 amyloidosis Disease_Ontology DOID:9123 DOID:9123 eczema herpeticum Disease_Ontology DOID:9125 DOID:9125 lower gum cancer Disease_Ontology DOID:913 DOID:913 atrophic muscular disease Disease_Ontology DOID:9132 DOID:9132 liver carcinoma in situ Disease_Ontology DOID:9138 DOID:9138 stomach carcinoma in situ Disease_Ontology DOID:914 DOID:914 peliosis hepatis Disease_Ontology DOID:9140 DOID:9140 xeroderma of eyelid Disease_Ontology DOID:9146 DOID:9146 visceral leishmaniasis Disease_Ontology DOID:9149 DOID:9149 hard palate cancer Disease_Ontology DOID:9153 DOID:9153 variola minor Disease_Ontology DOID:9155 DOID:9155 mucocutaneous leishmaniasis Disease_Ontology DOID:9159 DOID:9159 gas gangrene Disease_Ontology DOID:916 DOID:916 liver benign neoplasm Disease_Ontology DOID:9164 DOID:9164 achalasia Disease_Ontology DOID:9165 DOID:9165 neurotic excoriation Disease_Ontology DOID:9169 DOID:9169 Wiskott-Aldrich syndrome Disease_Ontology DOID:917 DOID:917 liver leiomyoma Disease_Ontology DOID:9173 DOID:9173 submandibular gland cancer Disease_Ontology DOID:9174 DOID:9174 rectum carcinoma in situ Disease_Ontology DOID:918 DOID:918 liver inflammatory pseudotumor Disease_Ontology DOID:9181 DOID:9181 amebiasis Disease_Ontology DOID:9182 DOID:9182 pemphigus Disease_Ontology DOID:9188 DOID:9188 vestibule of mouth cancer Disease_Ontology DOID:9191 DOID:9191 diabetic macular edema Disease_Ontology DOID:9192 DOID:9192 dyskinesia of esophagus Disease_Ontology DOID:92 DOID:92 speech disorder Disease_Ontology DOID:9201 DOID:9201 lichen planus Disease_Ontology DOID:9206 DOID:9206 Barrett's esophagus Disease_Ontology DOID:9207 DOID:9207 periodic limb movement disorder Disease_Ontology DOID:9210 DOID:9210 Ramsay Hunt syndrome Disease_Ontology DOID:9212 DOID:9212 pityriasis rubra pilaris Disease_Ontology DOID:9220 DOID:9220 central sleep apnea Disease_Ontology DOID:9230 DOID:9230 pompholyx Disease_Ontology DOID:9234 DOID:9234 kidney carcinoma in situ Disease_Ontology DOID:9235 DOID:9235 pyriform sinus cancer Disease_Ontology DOID:9240 DOID:9240 erythromelalgia Disease_Ontology DOID:9245 DOID:9245 Alagille syndrome Disease_Ontology DOID:9246 DOID:9246 cerebral amyloid angiopathy Disease_Ontology DOID:9248 DOID:9248 Pallister-Hall syndrome Disease_Ontology DOID:9249 DOID:9249 Beemer-Langer syndrome Disease_Ontology DOID:9250 DOID:9250 acrocallosal syndrome Disease_Ontology DOID:9252 DOID:9252 amino acid metabolic disorder Disease_Ontology DOID:9253 DOID:9253 gastrointestinal stromal tumor Disease_Ontology DOID:9254 DOID:9254 mast-cell leukemia Disease_Ontology DOID:9255 DOID:9255 frontotemporal dementia Disease_Ontology DOID:9256 DOID:9256 colorectal cancer Disease_Ontology DOID:9258 DOID:9258 Waardenburg syndrome Disease_Ontology DOID:9261 DOID:9261 nasopharynx carcinoma Disease_Ontology DOID:9263 DOID:9263 homocystinuria Disease_Ontology DOID:9265 DOID:9265 histidine metabolism disease Disease_Ontology DOID:9266 DOID:9266 cystinuria Disease_Ontology DOID:9267 DOID:9267 urea cycle disorder Disease_Ontology DOID:9268 DOID:9268 glycine encephalopathy Disease_Ontology DOID:9269 DOID:9269 maple syrup urine disease Disease_Ontology DOID:9270 DOID:9270 alkaptonuria Disease_Ontology DOID:9271 DOID:9271 ornithine carbamoyltransferase deficiency Disease_Ontology DOID:9273 DOID:9273 citrullinemia Disease_Ontology DOID:9274 DOID:9274 hyperlysinemia Disease_Ontology DOID:9275 DOID:9275 tyrosinemia Disease_Ontology DOID:9277 DOID:9277 primary cerebellar degeneration Disease_Ontology DOID:9278 DOID:9278 hyperargininemia Disease_Ontology DOID:9279 DOID:9279 hyperhomocysteinemia Disease_Ontology DOID:9280 DOID:9280 carbamoyl phosphate synthetase I deficiency disease Disease_Ontology DOID:9281 DOID:9281 phenylketonuria Disease_Ontology DOID:9282 DOID:9282 ocular hypertension Disease_Ontology DOID:9283 DOID:9283 borderline glaucoma Disease_Ontology DOID:9286 DOID:9286 priapism Disease_Ontology DOID:929 DOID:929 myopathy of extraocular muscle Disease_Ontology DOID:9296 DOID:9296 cleft lip Disease_Ontology DOID:9297 DOID:9297 lip disease Disease_Ontology DOID:9299 DOID:9299 myocardium cancer Disease_Ontology DOID:93 DOID:93 language disorder Disease_Ontology DOID:930 DOID:930 orbital disease Disease_Ontology DOID:9300 DOID:9300 neurofibroma of the heart Disease_Ontology DOID:9305 DOID:9305 splenic tuberculosis Disease_Ontology DOID:9306 DOID:9306 mechanical strabismus Disease_Ontology DOID:9307 DOID:9307 rectal prolapse Disease_Ontology DOID:931 DOID:931 monieziasis Disease_Ontology DOID:9310 DOID:9310 nasal cavity benign neoplasm Disease_Ontology DOID:9312 DOID:9312 chronic ethmoiditis Disease_Ontology DOID:9317 DOID:9317 lymphangitis Disease_Ontology DOID:9335 DOID:9335 scotoma Disease_Ontology DOID:9336 DOID:9336 bestiality Disease_Ontology DOID:9339 DOID:9339 urethral false passage Disease_Ontology DOID:934 DOID:934 viral infectious disease Disease_Ontology DOID:9341 DOID:9341 urethral diverticulum Disease_Ontology DOID:9346 DOID:9346 Taylor's syndrome Disease_Ontology DOID:9348 DOID:9348 carotid artery dissection Disease_Ontology DOID:9351 DOID:9351 diabetes mellitus Disease_Ontology DOID:9352 DOID:9352 type 2 diabetes mellitus Disease_Ontology DOID:9358 DOID:9358 fibular collateral ligament bursitis Disease_Ontology DOID:936 DOID:936 brain disease Disease_Ontology DOID:9360 DOID:9360 intrinsic asthma Disease_Ontology DOID:9362 DOID:9362 status asthmaticus Disease_Ontology DOID:9365 DOID:9365 vesiculitis Disease_Ontology DOID:9368 DOID:9368 keratoconjunctivitis Disease_Ontology DOID:9369 DOID:9369 orbital plasma cell granuloma Disease_Ontology DOID:9373 DOID:9373 postural kyphosis Disease_Ontology DOID:9375 DOID:9375 Fuchs' heterochromic uveitis Disease_Ontology DOID:9378 DOID:9378 glaucomatocyclitic crisis Disease_Ontology DOID:9383 DOID:9383 iridocyclitis Disease_Ontology DOID:9384 DOID:9384 gonococcal iridocyclitis Disease_Ontology DOID:9388 DOID:9388 lens-induced iridocyclitis Disease_Ontology DOID:9389 DOID:9389 infectious anterior uveitis Disease_Ontology DOID:9392 DOID:9392 tracheitis Disease_Ontology DOID:9395 DOID:9395 croup Disease_Ontology DOID:9396 DOID:9396 acute laryngitis Disease_Ontology DOID:9398 DOID:9398 epiglottitis Disease_Ontology DOID:9401 DOID:9401 epididymo-orchitis Disease_Ontology DOID:9402 DOID:9402 epididymitis Disease_Ontology DOID:9406 DOID:9406 hypopituitarism Disease_Ontology DOID:9407 DOID:9407 strictly posterior acute myocardial infarction Disease_Ontology DOID:9408 DOID:9408 acute myocardial infarction Disease_Ontology DOID:9409 DOID:9409 diabetes insipidus Disease_Ontology DOID:9410 DOID:9410 combined pituitary hormone deficiency Disease_Ontology DOID:9415 DOID:9415 allergic asthma Disease_Ontology DOID:9423 DOID:9423 blepharitis Disease_Ontology DOID:9427 DOID:9427 hypertensive encephalopathy Disease_Ontology DOID:9428 DOID:9428 intracranial hypertension Disease_Ontology DOID:9432 DOID:9432 renal glycosuria Disease_Ontology DOID:9439 DOID:9439 chronic cholangitis Disease_Ontology DOID:9442 DOID:9442 cervical Mullerian papilloma Disease_Ontology DOID:9445 DOID:9445 cervix squamous papilloma Disease_Ontology DOID:9446 DOID:9446 cholangitis Disease_Ontology DOID:9452 DOID:9452 steatotic liver disease Disease_Ontology DOID:9455 DOID:9455 lipid storage disease Disease_Ontology DOID:9459 DOID:9459 isthmus cancer Disease_Ontology DOID:946 DOID:946 dientamoebiasis Disease_Ontology DOID:9460 DOID:9460 uterine corpus cancer Disease_Ontology DOID:9461 DOID:9461 exposure keratitis Disease_Ontology DOID:9462 DOID:9462 cholesteatoma of external ear Disease_Ontology DOID:9463 DOID:9463 otitis externa Disease_Ontology DOID:9467 DOID:9467 nail-patella syndrome Disease_Ontology DOID:9470 DOID:9470 bacterial meningitis Disease_Ontology DOID:9471 DOID:9471 meningitis Disease_Ontology DOID:9473 DOID:9473 mononeuritis of lower limb Disease_Ontology DOID:9476 DOID:9476 Sheehan syndrome Disease_Ontology DOID:9477 DOID:9477 pulmonary embolism Disease_Ontology DOID:9478 DOID:9478 postpartum depression Disease_Ontology DOID:9483 DOID:9483 ulcerative blepharitis Disease_Ontology DOID:9487 DOID:9487 Meckel's diverticulum Disease_Ontology DOID:949 DOID:949 chronic dacryoadenitis Disease_Ontology DOID:9496 DOID:9496 unilateral hypoactive labyrinth Disease_Ontology DOID:9498 DOID:9498 pulmonary eosinophilia Disease_Ontology DOID:9499 DOID:9499 disseminated eosinophilic collagen disease Disease_Ontology DOID:950 DOID:950 dacryoadenitis Disease_Ontology DOID:9500 DOID:9500 leukocyte disease Disease_Ontology DOID:9502 DOID:9502 chronic eosinophilic pneumonia Disease_Ontology DOID:9503 DOID:9503 Loeffler syndrome Disease_Ontology DOID:9504 DOID:9504 benign mammary dysplasia Disease_Ontology DOID:9505 DOID:9505 cannabis abuse Disease_Ontology DOID:9506 DOID:9506 acute ethmoiditis Disease_Ontology DOID:9507 DOID:9507 ethmoid sinusitis Disease_Ontology DOID:9512 DOID:9512 simple chronic conjunctivitis Disease_Ontology DOID:9513 DOID:9513 plasma cell leukemia Disease_Ontology DOID:952 DOID:952 acute dacryoadenitis Disease_Ontology DOID:9521 DOID:9521 Laron syndrome Disease_Ontology DOID:9531 DOID:9531 latent syphilis Disease_Ontology DOID:9534 DOID:9534 tuberculous pneumothorax Disease_Ontology DOID:9537 DOID:9537 Lassa fever Disease_Ontology DOID:9538 DOID:9538 multiple myeloma Disease_Ontology DOID:9540 DOID:9540 vascular skin disease Disease_Ontology DOID:9541 DOID:9541 osteosclerotic myeloma Disease_Ontology DOID:9544 DOID:9544 refractory plasma cell neoplasm Disease_Ontology DOID:9547 DOID:9547 non-secretory myeloma Disease_Ontology DOID:9550 DOID:9550 indolent plasma cell myeloma Disease_Ontology DOID:9551 DOID:9551 smoldering myeloma Disease_Ontology DOID:9553 DOID:9553 adrenal gland disease Disease_Ontology DOID:956 DOID:956 peripheral nerve schwannoma Disease_Ontology DOID:9561 DOID:9561 nasopharyngeal disease Disease_Ontology DOID:9562 DOID:9562 primary ciliary dyskinesia Disease_Ontology DOID:9563 DOID:9563 bronchiectasis Disease_Ontology DOID:9565 DOID:9565 dextrocardia Disease_Ontology DOID:9574 DOID:9574 choanal atresia Disease_Ontology DOID:9577 DOID:9577 neonatal candidiasis Disease_Ontology DOID:9584 DOID:9584 Venezuelan equine encephalitis Disease_Ontology DOID:9588 DOID:9588 encephalitis Disease_Ontology DOID:9589 DOID:9589 urethral calculus Disease_Ontology DOID:959 DOID:959 esophagus squamous cell papilloma Disease_Ontology DOID:9590 DOID:9590 lower urinary tract calculus Disease_Ontology DOID:9597 DOID:9597 Krukenberg carcinoma Disease_Ontology DOID:9598 DOID:9598 fasciitis Disease_Ontology DOID:9599 DOID:9599 proliferative fasciitis Disease_Ontology DOID:96 DOID:96 staphyloenterotoxemia Disease_Ontology DOID:960 DOID:960 esophagus leiomyoma Disease_Ontology DOID:9600 DOID:9600 plantar fasciitis Disease_Ontology DOID:9601 DOID:9601 ischemic fasciitis Disease_Ontology DOID:9602 DOID:9602 necrotizing fasciitis Disease_Ontology DOID:9603 DOID:9603 intravascular fasciitis Disease_Ontology DOID:961 DOID:961 neurofibroma of the esophagus Disease_Ontology DOID:9617 DOID:9617 orthostatic proteinuria Disease_Ontology DOID:962 DOID:962 neurofibroma Disease_Ontology DOID:9620 DOID:9620 vesicoureteral reflux Disease_Ontology DOID:9621 DOID:9621 non-congenital cyst of kidney Disease_Ontology DOID:9622 DOID:9622 kidney hypertrophy Disease_Ontology DOID:963 DOID:963 episodic ataxia Disease_Ontology DOID:9631 DOID:9631 Pelger-Huet anomaly Disease_Ontology DOID:9637 DOID:9637 stomatitis Disease_Ontology DOID:9640 DOID:9640 sarcocystosis Disease_Ontology DOID:9643 DOID:9643 babesiosis Disease_Ontology DOID:9649 DOID:9649 congenital nystagmus Disease_Ontology DOID:9650 DOID:9650 pathologic nystagmus Disease_Ontology DOID:9651 DOID:9651 systolic heart failure Disease_Ontology DOID:9655 DOID:9655 oral mucosa leukoplakia Disease_Ontology DOID:9663 DOID:9663 aphthous stomatitis Disease_Ontology DOID:9667 DOID:9667 placental abruption Disease_Ontology DOID:9669 DOID:9669 senile cataract Disease_Ontology DOID:9672 DOID:9672 noma Disease_Ontology DOID:9673 DOID:9673 ulcerative stomatitis Disease_Ontology DOID:9675 DOID:9675 pulmonary emphysema Disease_Ontology DOID:9681 DOID:9681 cervical incompetence Disease_Ontology DOID:9682 DOID:9682 yellow fever Disease_Ontology DOID:9694 DOID:9694 toxic myocarditis Disease_Ontology DOID:9697 DOID:9697 gonococcal keratitis Disease_Ontology DOID:9698 DOID:9698 gonococcal endophthalmia Disease_Ontology DOID:9699 DOID:9699 ophthalmia neonatorum Disease_Ontology DOID:970 DOID:970 tenosynovitis Disease_Ontology DOID:9700 DOID:9700 bacterial conjunctivitis Disease_Ontology DOID:9709 DOID:9709 rosacea conjunctivitis Disease_Ontology DOID:971 DOID:971 tendinitis Disease_Ontology DOID:9714 DOID:9714 occlusion of gallbladder Disease_Ontology DOID:9717 DOID:9717 hydrops of gallbladder Disease_Ontology DOID:9719 DOID:9719 neovascular inflammatory vitreoretinopathy Disease_Ontology DOID:9720 DOID:9720 vitreous disease Disease_Ontology DOID:9722 DOID:9722 ophthalmia nodosa Disease_Ontology DOID:9723 DOID:9723 vitreous abscess Disease_Ontology DOID:9724 DOID:9724 purulent endophthalmitis Disease_Ontology DOID:9726 DOID:9726 vitreous detachment Disease_Ontology DOID:9733 DOID:9733 renal tuberculosis Disease_Ontology DOID:9735 DOID:9735 acute allergic mucoid otitis media Disease_Ontology DOID:9736 DOID:9736 blue drum syndrome Disease_Ontology DOID:9739 DOID:9739 eustachian tube disease Disease_Ontology DOID:974 DOID:974 upper respiratory tract disease Disease_Ontology DOID:9740 DOID:9740 postcholecystectomy syndrome Disease_Ontology DOID:9741 DOID:9741 biliary tract disease Disease_Ontology DOID:9742 DOID:9742 pelvic varices Disease_Ontology DOID:9743 DOID:9743 diabetic neuropathy Disease_Ontology DOID:9744 DOID:9744 type 1 diabetes mellitus Disease_Ontology DOID:9745 DOID:9745 perianal hematoma Disease_Ontology DOID:9746 DOID:9746 hemorrhoid Disease_Ontology DOID:9749 DOID:9749 internal hemorrhoid Disease_Ontology DOID:9754 DOID:9754 ganglion or cyst of synovium/tendon/bursa Disease_Ontology DOID:9765 DOID:9765 emphysematous cholecystitis Disease_Ontology DOID:9766 DOID:9766 xanthogranulomatous cholecystitis Disease_Ontology DOID:9767 DOID:9767 myocardial stunning Disease_Ontology DOID:9768 DOID:9768 heart aneurysm Disease_Ontology DOID:9771 DOID:9771 transient neonatal thrombocytopenia Disease_Ontology DOID:9773 DOID:9773 female breast upper-outer quadrant cancer Disease_Ontology DOID:9775 DOID:9775 diastolic heart failure Disease_Ontology DOID:9776 DOID:9776 Senile atrophy of choroid Disease_Ontology DOID:9778 DOID:9778 irritable bowel syndrome Disease_Ontology DOID:9779 DOID:9779 bowel dysfunction Disease_Ontology DOID:9784 DOID:9784 trichinosis Disease_Ontology DOID:9786 DOID:9786 bulbar polio Disease_Ontology DOID:9788 DOID:9788 myositis fibrosa Disease_Ontology DOID:979 DOID:979 angioid streaks of choroid Disease_Ontology DOID:9790 DOID:9790 toxocariasis Disease_Ontology DOID:9794 DOID:9794 hereditary choroidal atrophy Disease_Ontology DOID:9799 DOID:9799 eye degenerative disease Disease_Ontology DOID:980 DOID:980 choroidal sclerosis Disease_Ontology DOID:9801 DOID:9801 tuberculous peritonitis Disease_Ontology DOID:9808 DOID:9808 Goodpasture syndrome Disease_Ontology DOID:9809 DOID:9809 hypersensitivity vasculitis Disease_Ontology DOID:981 DOID:981 diffuse secondary choroid atrophy Disease_Ontology DOID:9810 DOID:9810 polyarteritis nodosa Disease_Ontology DOID:9811 DOID:9811 partial circumpapillary choroid dystrophy Disease_Ontology DOID:9820 DOID:9820 central gyrate choroidal dystrophy Disease_Ontology DOID:9821 DOID:9821 choroideremia Disease_Ontology DOID:9822 DOID:9822 partial central choroid dystrophy Disease_Ontology DOID:9827 DOID:9827 radioulnar synostosis Disease_Ontology DOID:9828 DOID:9828 neonatal abstinence syndrome Disease_Ontology DOID:9834 DOID:9834 hyperopia Disease_Ontology DOID:9835 DOID:9835 refractive error Disease_Ontology DOID:9837 DOID:9837 hypertropia Disease_Ontology DOID:9838 DOID:9838 cyclotropia Disease_Ontology DOID:9839 DOID:9839 accommodative esotropia Disease_Ontology DOID:9840 DOID:9840 esotropia Disease_Ontology DOID:9841 DOID:9841 hypotropia Disease_Ontology DOID:9842 DOID:9842 total circumpapillary dystrophy of choroid Disease_Ontology DOID:9843 DOID:9843 monofixation syndrome Disease_Ontology DOID:9847 DOID:9847 peripheral vertigo Disease_Ontology DOID:9848 DOID:9848 endolymphatic hydrops Disease_Ontology DOID:9849 DOID:9849 Meniere's disease Disease_Ontology DOID:9854 DOID:9854 lingual-facial-buccal dyskinesia Disease_Ontology DOID:9856 DOID:9856 congenital syphilis Disease_Ontology DOID:9857 DOID:9857 interstitial keratitis Disease_Ontology DOID:9858 DOID:9858 deep keratitis Disease_Ontology DOID:986 DOID:986 alopecia areata Disease_Ontology DOID:9861 DOID:9861 miliary tuberculosis Disease_Ontology DOID:9867 DOID:9867 toxic maculopathy Disease_Ontology DOID:9868 DOID:9868 intestinal disaccharidase deficiency Disease_Ontology DOID:9869 DOID:9869 hereditary fructose intolerance syndrome Disease_Ontology DOID:987 DOID:987 alopecia Disease_Ontology DOID:9870 DOID:9870 galactosemia Disease_Ontology DOID:9877 DOID:9877 urethral gland abscess Disease_Ontology DOID:988 DOID:988 mitral valve prolapse Disease_Ontology DOID:9880 DOID:9880 cardiovascular syphilis Disease_Ontology DOID:9883 DOID:9883 Becker muscular dystrophy Disease_Ontology DOID:9884 DOID:9884 muscular dystrophy Disease_Ontology DOID:9888 DOID:9888 alternating esotropia Disease_Ontology DOID:9892 DOID:9892 median arcuate ligament syndrome Disease_Ontology DOID:9893 DOID:9893 periodontosis Disease_Ontology DOID:9898 DOID:9898 villonodular synovitis Disease_Ontology DOID:990 DOID:990 congenital heart block Disease_Ontology DOID:9903 DOID:9903 meibomian cyst Disease_Ontology DOID:9905 DOID:9905 follicular mucinosis Disease_Ontology DOID:9908 DOID:9908 internal hordeolum Disease_Ontology DOID:9909 DOID:9909 hordeolum Disease_Ontology DOID:9910 DOID:9910 central corneal ulcer Disease_Ontology DOID:9911 DOID:9911 infected hydrocele Disease_Ontology DOID:9912 DOID:9912 hydrocele Disease_Ontology DOID:992 DOID:992 Omsk hemorrhagic fever Disease_Ontology DOID:9923 DOID:9923 developmental coordination disorder Disease_Ontology DOID:9931 DOID:9931 Waterhouse-Friderichsen syndrome Disease_Ontology DOID:9935 DOID:9935 chronic inflammation of lacrimal passage Disease_Ontology DOID:9936 DOID:9936 chronic canaliculitis Disease_Ontology DOID:9937 DOID:9937 chronic dacryocystitis Disease_Ontology DOID:9938 DOID:9938 dacryocystitis Disease_Ontology DOID:9939 DOID:9939 dacryocystocele Disease_Ontology DOID:9942 DOID:9942 lymph node disease Disease_Ontology DOID:9945 DOID:9945 constant exophthalmos Disease_Ontology DOID:9946 DOID:9946 steroid-induced glaucoma Disease_Ontology DOID:9948 DOID:9948 residual stage corticosteroid-induced glaucoma Disease_Ontology DOID:9952 DOID:9952 acute lymphoblastic leukemia Disease_Ontology DOID:9953 DOID:9953 acute biphenotypic leukemia Disease_Ontology DOID:9954 DOID:9954 null-cell leukemia Disease_Ontology DOID:9955 DOID:9955 hypoplastic left heart syndrome Disease_Ontology DOID:9957 DOID:9957 periostitis Disease_Ontology DOID:9958 DOID:9958 hemometra Disease_Ontology DOID:9965 DOID:9965 toxoplasmosis Disease_Ontology DOID:9969 DOID:9969 carotenemia Disease_Ontology DOID:997 DOID:997 uterine inversion Disease_Ontology DOID:9970 DOID:9970 obesity Disease_Ontology DOID:9971 DOID:9971 hypervitaminosis D Disease_Ontology DOID:9972 DOID:9972 hypervitaminosis A Disease_Ontology DOID:9973 DOID:9973 substance dependence Disease_Ontology DOID:9974 DOID:9974 drug dependence Disease_Ontology DOID:9975 DOID:9975 cocaine dependence Disease_Ontology DOID:9976 DOID:9976 heroin dependence Disease_Ontology DOID:9977 DOID:9977 hallucinogen dependence Disease_Ontology DOID:9978 DOID:9978 acute female pelvic peritonitis Disease_Ontology DOID:998 DOID:998 eosinophilia-myalgia syndrome Disease_Ontology DOID:9986 DOID:9986 orbit lymphoma Disease_Ontology DOID:9987 DOID:9987 orbit sarcoma Disease_Ontology DOID:9988 DOID:9988 tertiary neurosyphilis Disease_Ontology DOID:999 DOID:999 hypereosinophilic syndrome Disease_Ontology DOID:9993 DOID:9993 hypoglycemia Disease_Ontology DOID:9997 DOID:9997 peripartum cardiomyopathy Disease_Ontology