node_id disease_id disease_name source DISEASE_NAME:11q_partial_monosomy_syndrome 11q partial monosomy syndrome Supplemental_disease_name DISEASE_NAME:13q12_3_microdeletion 13q12.3 microdeletion 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: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: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: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:2p14_microdeletion_syndrome 2p14 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:2q23_1_microdeletion_syndrome 2q23.1 microdeletion syndrome 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_viia 3-methylglutaconic aciduria, type VIIA Supplemental_disease_name DISEASE_NAME:3_methylglutaconic_aciduria_type_viib 3-methylglutaconic aciduria, type VIIB 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_3 3M syndrome 3 Supplemental_disease_name DISEASE_NAME:3p_syndrome 3p- 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_xy_differences_of_sex_development 46 XY differences of sex development 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_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_true_hermaphroditism 46,XY TRUE HERMAPHRODITISM Supplemental_disease_name DISEASE_NAME:4p_partial_monosomy_syndrome 4p partial monosomy 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_syndrome 5q14.3 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:5q35_microduplication_syndrome 5q35 microduplication syndrome Supplemental_disease_name DISEASE_NAME:6_pyruvoyl_tetrahydrobiopterin_synthase_deficiency 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Supplemental_disease_name DISEASE_NAME:7p21_3p21_2_microduplication 7p21.3p21.2 microduplication Supplemental_disease_name DISEASE_NAME:8q24_3_microdeletion_syndrome 8q24.3 microdeletion syndrome Supplemental_disease_name DISEASE_NAME:9p23_dn_microdeletion 9p23 dn microdeletion 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: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: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: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: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:abhd12_related_disorder ABHD12-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: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_aortic_valve_morphology Abnormal aortic valve morphology Supplemental_disease_name DISEASE_NAME:abnormal_bleeding Abnormal bleeding Supplemental_disease_name DISEASE_NAME:abnormal_blistering_of_the_skin Abnormal blistering of the skin Supplemental_disease_name DISEASE_NAME:abnormal_brain_morphology Abnormal brain morphology 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_cartilage_collagen Abnormal cartilage collagen 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_morphology Abnormal cerebral morphology Supplemental_disease_name DISEASE_NAME:abnormal_cerebral_vascular_morphology Abnormal cerebral vascular morphology Supplemental_disease_name DISEASE_NAME:abnormal_circulating_carbohydrate_concentration Abnormal circulating carbohydrate concentration Supplemental_disease_name DISEASE_NAME:abnormal_circulating_immunoglobulin_concentration Abnormal circulating immunoglobulin 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_corpus_callosum_morphology Abnormal corpus callosum morphology Supplemental_disease_name DISEASE_NAME:abnormal_cortical_gyration Abnormal cortical gyration 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_finger_morphology Abnormal finger morphology Supplemental_disease_name DISEASE_NAME:abnormal_heart_morphology Abnormal heart morphology 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_optic_nerve_morphology Abnormal optic nerve morphology Supplemental_disease_name DISEASE_NAME:abnormal_peripheral_nervous_system_morphology Abnormal peripheral nervous system morphology 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_pyramidal_sign Abnormal pyramidal sign Supplemental_disease_name DISEASE_NAME:abnormal_retinal_morphology Abnormal retinal morphology 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: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_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_immune_system Abnormality of the immune system 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_ovary Abnormality of the ovary 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_skin Abnormality of the skin 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:aborted_sudden_cardiac_death Aborted sudden cardiac death Supplemental_disease_name DISEASE_NAME:abortive_cerebellar_ataxia Abortive cerebellar ataxia 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:absent_radius Absent radius 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: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:achromatopsia_5 Achromatopsia 5 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:acne_inversa_familial_1 Acne inversa, familial, 1 Supplemental_disease_name DISEASE_NAME:acne_inversa_familial_3 Acne inversa, familial, 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: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_susceptibility_to_long_qt_syndrome_1 Acquired susceptibility to long QT syndrome 1 Supplemental_disease_name DISEASE_NAME:acrocephalosyndactyly_type_i Acrocephalosyndactyly type I 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_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:acrofrontofacionasal_dysostosis_3 ACROFRONTOFACIONASAL DYSOSTOSIS 3 Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_1_maroteaux_type Acromesomelic dysplasia 1, Maroteaux type Supplemental_disease_name DISEASE_NAME:acromesomelic_dysplasia_2c_hunter_thompson_type Acromesomelic dysplasia 2C, Hunter-Thompson type Supplemental_disease_name DISEASE_NAME:acroosteolysis_keloid_like_lesions_premature_aging_syndrome Acroosteolysis-keloid-like lesions-premature aging syndrome 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:acss2_related_disorder ACSS2-related disorder 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: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:actn4_related_disorder ACTN4-related disorder Supplemental_disease_name DISEASE_NAME:actrt1_related_disorder ACTRT1-related disorder 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_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_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_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_myeloid_leukemia_acute_myelogenous_leukemia Acute myeloid leukemia/acute myelogenous leukemia 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_refractory_chorea Acute refractory chorea Supplemental_disease_name DISEASE_NAME:acute_rhabdomyolysis Acute rhabdomyolysis Supplemental_disease_name DISEASE_NAME:acvr1_related_disorder ACVR1-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: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_5 Adams-Oliver syndrome 5 Supplemental_disease_name DISEASE_NAME:adams_oliver_syndrome_6 Adams-Oliver syndrome 6 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:adamts19_associated_congenital_heartdefect ADAMTS19-associated congenital heartdefect Supplemental_disease_name DISEASE_NAME:adamts19_related_disorder ADAMTS19-related disorder 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: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: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: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: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: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: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_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_nr5a1_related ADRENAL INSUFFICIENCY, NR5A1-RELATED 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_onset_autosomal_dominant_demyelinating_leukodystrophy Adult-onset autosomal dominant demyelinating leukodystrophy 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_polyglucosan_body_disease Adult polyglucosan body disease 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_8_autosomal_dominant Agammaglobulinemia 8, autosomal dominant Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_8b_autosomal_recessive Agammaglobulinemia 8b, autosomal recessive Supplemental_disease_name DISEASE_NAME:agammaglobulinemia_9_autosomal_recessive Agammaglobulinemia 9, autosomal recessive 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:agbl5_related_disorder AGBL5-related disorder 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: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: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: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_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_6 Aicardi-Goutieres syndrome 6 Supplemental_disease_name DISEASE_NAME:aicardi_goutieres_syndrome_7 Aicardi-Goutieres syndrome 7 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: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: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: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: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_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_notch2_point_mutation Alagille syndrome due to a NOTCH2 point mutation 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_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_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_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_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: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_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_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:alg8_congenital_disorder_of_glycosylation ALG8 congenital disorder of glycosylation 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_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: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:alox12b_related_disorder ALOX12B-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_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_thalassemia_dutch_type Alpha-thalassemia, Dutch 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: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: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: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_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_2 Alternating hemiplegia of childhood 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: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_19 Alzheimer disease 19 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:amacr_related_disorder AMACR-related disorder Supplemental_disease_name DISEASE_NAME:ambiguous_genitalia Ambiguous genitalia 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:amelia_cleft_lip_palate_hydrocephalus_iris_coloboma Amelia cleft lip palate hydrocephalus iris coloboma Supplemental_disease_name DISEASE_NAME:amelogenesis_imperfecta_hypoplastic_autosomal_dominant_local Amelogenesis imperfecta - hypoplastic autosomal dominant - local 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_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:aminoaciduria Aminoaciduria Supplemental_disease_name DISEASE_NAME:aminoacylase_1_deficiency Aminoacylase-1 deficiency 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:amyloidosis_hereditary_systemic_1 Amyloidosis, hereditary systemic 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_primary_localized_cutaneous_1 Amyloidosis, primary localized cutaneous, 1 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_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_25 Amyotrophic lateral sclerosis, susceptibility to, 25 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_with_sensory_neuropathy Amyotrophic Lateral Sclerosis with Sensory Neuropathy Supplemental_disease_name DISEASE_NAME:amyotrophy Amyotrophy 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:androgen_insensitivity_partial_with_breast_cancer Androgen insensitivity, partial, with breast cancer 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_perinatal_hemolytic_fatal_or_near_fatal ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL Supplemental_disease_name DISEASE_NAME:anemia_sideroblastic_5 Anemia, sideroblastic, 5 Supplemental_disease_name DISEASE_NAME:anencephaly_1 Anencephaly 1 Supplemental_disease_name DISEASE_NAME:anencephaly_2 Anencephaly 2 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_like Angelman syndrome-like Supplemental_disease_name DISEASE_NAME:angioedema_hereditary_4 Angioedema, hereditary, 4 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_7 Angioedema, hereditary, 7 Supplemental_disease_name DISEASE_NAME:angiofibroma_somatic Angiofibroma, somatic 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: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: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: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: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: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_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_microphthalmia_syndrome Anophthalmia-microphthalmia syndrome 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_multiple_subtypes ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES 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: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_without_genital_anomalies_or_disordered_steroidogenesis Antley-Bixler syndrome without genital anomalies or 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: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_6 Aortic aneurysm, familial thoracic 6 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_7 Aortic aneurysm, familial thoracic 7 Supplemental_disease_name DISEASE_NAME:aortic_aneurysm_familial_thoracic_8 Aortic aneurysm, familial thoracic 8 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: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: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_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_of_the_ovary Aplasia of the ovary 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: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: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: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_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: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:aqp4_related_disorder AQP4-related disorder Supplemental_disease_name DISEASE_NAME:aqp5_related_disorder AQP5-related disorder Supplemental_disease_name DISEASE_NAME:ar_related_disorder AR-related disorder 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: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:arhgap24_related_disorder ARHGAP24-related disorder Supplemental_disease_name DISEASE_NAME:arhgap26_related_disorder ARHGAP26-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_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: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: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_related_disorder ARMCX5-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:arpc1b_related_disorder ARPC1B-related disorder Supplemental_disease_name DISEASE_NAME:arrhinia_with_choanal_atresia_and_microphthalmia_syndrome Arrhinia with choanal atresia and microphthalmia syndrome 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_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_15 Arrhythmogenic right ventricular dysplasia, familial, 15 Supplemental_disease_name DISEASE_NAME:arrhythmogenic_ventricular_cardiomyopathy Arrhythmogenic ventricular cardiomyopathy 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:arsg_related_disorder ARSG-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_2 Arterial calcification, generalized, of infancy, 2 Supplemental_disease_name DISEASE_NAME:arterial_dissection Arterial dissection Supplemental_disease_name DISEASE_NAME:arterial_tortuosity Arterial tortuosity Supplemental_disease_name DISEASE_NAME:arterial_tortuosity_bone_fragility_syndrome Arterial tortuosity-bone fragility syndrome 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_distal_iia_11 Arthrogryposis, distal, IIa 11 Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_1a Arthrogryposis, distal, type 1A Supplemental_disease_name DISEASE_NAME:arthrogryposis_distal_type_1b Arthrogryposis, distal, type 1B 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_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_multiplex_congenita Arthrogryposis multiplex congenita 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_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_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_with_neutropenia_and_early_respiratory_failure arthrogryposis multiplex congenita with neutropenia and early respiratory failure 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_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: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:asah1_related_disorders ASAH1-related disorders Supplemental_disease_name DISEASE_NAME:asah1_related_sphingolipidosis ASAH1-related sphingolipidosis 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: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:asl_related_disorder ASL-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:aspergillosis_susceptibility_to Aspergillosis, susceptibility to Supplemental_disease_name DISEASE_NAME:asph_related_disorder ASPH-related disorder 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: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_related_traits_susceptibility_to_5 Asthma-related traits, susceptibility to, 5 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:atad3a_deficiency ATAD3A deficiency 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_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_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_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_pancytopenia_syndrome Ataxia-pancytopenia syndrome 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_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: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: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_ii Atelosteogenesis type II Supplemental_disease_name DISEASE_NAME:atelosteogenesis_type_iii Atelosteogenesis type III 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_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: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: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: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_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_11 Atrial fibrillation, familial, 11 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_12 Atrial fibrillation, familial, 12 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_13 Atrial fibrillation, familial, 13 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_4 Atrial fibrillation, familial, 4 Supplemental_disease_name DISEASE_NAME:atrial_fibrillation_familial_6 Atrial fibrillation, familial, 6 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_somatic Atrial fibrillation, somatic Supplemental_disease_name DISEASE_NAME:atrial_septal_defect_7 Atrial septal defect 7 Supplemental_disease_name DISEASE_NAME:atrial_standstill Atrial standstill Supplemental_disease_name DISEASE_NAME:atrial_standstill_1_digenic ATRIAL STANDSTILL 1, DIGENIC Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_4 Atrioventricular septal defect 4 Supplemental_disease_name DISEASE_NAME:atrioventricular_septal_defect_5 Atrioventricular septal defect 5 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: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_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_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:atxn7_related_disorder ATXN7-related disorder Supplemental_disease_name DISEASE_NAME:atypical_behavior Atypical behavior 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_glycine_encephalopathy Atypical glycine encephalopathy 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_c3_anomaly Atypical hemolytic-uremic syndrome with C3 anomaly 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_mcp_cd46_anomaly Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 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: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_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_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_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_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_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_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_3 Autism, susceptibility to, X-linked 3 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_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_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_with_susceptibility_to_mycobacterium_tuberculosis Autoimmune disease with susceptibility to mycobacterium tuberculosis 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_type_1 Autoimmune lymphoproliferative syndrome type 1 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: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_with_arthritis_and_dyskeratosis Autoinflammation with arthritis and dyskeratosis Supplemental_disease_name DISEASE_NAME:autoinflammation_with_arthritis_and_vasculitis Autoinflammation with arthritis and vasculitis 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_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_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_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_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_without_contractures Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 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_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_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_distal_renal_tubular_acidosis Autosomal dominant distal renal tubular acidosis 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_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_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_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_hypohidrotic_ectodermal_dysplasia Autosomal dominant hypohidrotic ectodermal dysplasia 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_keratitis_ichthyosis_hearing_loss_syndrome Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 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_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_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_non_syndromic_intellectual_disability Autosomal dominant non-syndromic intellectual disability 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_11 Autosomal dominant nonsyndromic hearing loss 11 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_17 Autosomal dominant nonsyndromic hearing loss 17 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_21 Autosomal dominant nonsyndromic hearing loss 21 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_23 Autosomal dominant nonsyndromic hearing loss 23 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_28 Autosomal dominant nonsyndromic hearing loss 28 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_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_3a Autosomal dominant nonsyndromic hearing loss 3A 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_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_5 Autosomal dominant nonsyndromic hearing loss 5 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_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_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_69 Autosomal dominant nonsyndromic hearing loss 69 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_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_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_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_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_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_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_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_sideroblastic_anemia Autosomal dominant sideroblastic anemia 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_paraplegia_type_9 Autosomal dominant spastic paraplegia type 9 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_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_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_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_amacr_related_disorders Autosomal recessive AMACR-related disorders Supplemental_disease_name DISEASE_NAME:autosomal_recessive_ano5_related_disorders Autosomal recessive ANO5-related disorders 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_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_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_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_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_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_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_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_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_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_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_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_hypophosphatemic_bone_disease Autosomal recessive hypophosphatemic bone disease Supplemental_disease_name DISEASE_NAME:autosomal_recessive_hypotrichosis_with_woolly_hair Autosomal Recessive Hypotrichosis with Woolly Hair 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_inherited_pseudoxanthoma_elasticum Autosomal recessive inherited pseudoxanthoma elasticum Supplemental_disease_name DISEASE_NAME:autosomal_recessive_isolated_fingernail_dysplasia autosomal recessive isolated fingernail dysplasia Supplemental_disease_name DISEASE_NAME:autosomal_recessive_kenny_caffey_syndrome Autosomal recessive Kenny-Caffey syndrome 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_2r1 Autosomal recessive limb-girdle muscular dystrophy type 2R1 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_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_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_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_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_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_18a Autosomal recessive nonsyndromic hearing loss 18A 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_2 Autosomal recessive nonsyndromic hearing loss 2 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_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_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_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_37 Autosomal recessive nonsyndromic hearing loss 37 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_49 Autosomal recessive nonsyndromic hearing loss 49 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_59 Autosomal recessive nonsyndromic hearing loss 59 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_66 Autosomal recessive nonsyndromic hearing loss 66 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_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_79 Autosomal recessive nonsyndromic hearing loss 79 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_86 Autosomal recessive nonsyndromic hearing loss 86 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_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_97 Autosomal recessive nonsyndromic hearing loss 97 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_and_deafness Autosomal Recessive Nonsyndromic Hearing Loss and Deafness 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_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_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_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_rnu4atac_related_disorders Autosomal recessive RNU4ATAC-related disorders 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_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_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_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_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_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_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: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:axial_myopathy_late_onset Axial myopathy, late-onset 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_disorder AXIN2-related disorder Supplemental_disease_name DISEASE_NAME:axl_related_disorder AXL-related disorder Supplemental_disease_name DISEASE_NAME:azathioprine_response Azathioprine response 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:b4gat1_related_disorder B4GAT1-related disorder Supplemental_disease_name DISEASE_NAME:b9d1_related_disorder B9D1-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_not_otherwise_specified B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified Supplemental_disease_name DISEASE_NAME:baat_related_disorder BAAT-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: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:band_heterotopia_of_brain Band heterotopia of brain 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: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_disorder BARD1-related disorder 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_14_modifier_of Bardet-Biedl syndrome 14, modifier of 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_modifier_of Bardet-Biedl syndrome 1, modifier of 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_6_10_digenic Bardet-biedl syndrome 6/10, digenic 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_2 Bartsocas-Papas syndrome 2 Supplemental_disease_name DISEASE_NAME:bartter_syndrome Bartter syndrome Supplemental_disease_name DISEASE_NAME:bartter_syndrome_type_4 Bartter syndrome type 4 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_7 Basal cell carcinoma, susceptibility to, 7 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_5 Basal ganglia calcification, idiopathic, 5 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_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: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: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: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_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_somatic_mosaic BECKER NEVUS SYNDROME, SOMATIC, MOSAIC 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_cystic_nephroma Benign cystic nephroma Supplemental_disease_name DISEASE_NAME:benign_familial_neonatal_infantile_seizures_1 Benign familial neonatal-infantile seizures 1 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_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_2 Benign recurrent 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: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_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_c Bernard-Soulier syndrome type C 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_1b_autosomal_recessive BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE Supplemental_disease_name DISEASE_NAME:bf_fa_s BF*FA/S Supplemental_disease_name DISEASE_NAME:bgn_related_disorder BGN-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:bifunctional_peroxisomal_enzyme_deficiency Bifunctional peroxisomal enzyme deficiency Supplemental_disease_name DISEASE_NAME:bilateral_cleft_lip Bilateral cleft lip 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_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_polymicrogyria Bilateral polymicrogyria 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_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:bin1_related_disorder BIN1-related disorder Supplemental_disease_name DISEASE_NAME:bipolar_affective_disorder_susceptibility_to Bipolar affective disorder, susceptibility to 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_2 Birt-Hogg-Dube syndrome 2 Supplemental_disease_name DISEASE_NAME:biventricular_noncompaction_cardiomyopathy Biventricular noncompaction cardiomyopathy 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: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_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: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_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: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:bloc1s5_related_disorder BLOC1S5-related disorder Supplemental_disease_name DISEASE_NAME:bloc1s6_related_disorder BLOC1S6-related disorder 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_er Blood group, ER 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_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: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:bmp6_related_disorder BMP6-related disorder Supplemental_disease_name DISEASE_NAME:bmp7_related_disorder BMP7-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:bnc2_related_disorder BNC2-related disorder 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_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:boerjeson_forssman_lehmann_syndrome Boerjeson-Forssman-Lehmann syndrome Supplemental_disease_name DISEASE_NAME:bohring_opitz_syndrome Bohring-Opitz syndrome 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_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_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_paget_disease Bone Paget disease 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: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:boudin_mortier_syndrome Boudin-Mortier syndrome 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: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_syndactyly_oligodactyly_syndrome Brachydactyly-syndactyly-oligodactyly syndrome 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_b1robinow_syndrome_autosomal_recessive Brachydactyly, type B1Robinow syndrome, autosomal recessive Supplemental_disease_name DISEASE_NAME:brachydactyly_type_e Brachydactyly type E Supplemental_disease_name DISEASE_NAME:brachymorphism_onychodysplasia_dysphalangism_syndrome Brachymorphism-onychodysplasia-dysphalangism syndrome 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_2 Braddock-carey syndrome 2 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_disorder Brain disorder 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_malformation_renal_syndrome Brain malformation renal syndrome 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_2a_autosomal_dominant Brain small vessel disease 2A, autosomal dominant 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_tumor brain tumor Supplemental_disease_name DISEASE_NAME:brain_tumor_polyposis_syndrome_2 BRAIN TUMOR-POLYPOSIS SYNDROME 2 Supplemental_disease_name DISEASE_NAME:branchial_cleft_anomaly Branchial cleft anomaly Supplemental_disease_name DISEASE_NAME:branchiootic_syndrome_2 Branchiootic syndrome 2 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: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_in_brca1_and_brca2_carriers Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers Supplemental_disease_name DISEASE_NAME:breast_cancer_tumor_carcinoma Breast cancer/tumor/carcinoma 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_2 Breast-ovarian cancer, familial, susceptibility to, 2 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_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_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: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_modifier_of Bronchiectasis with or without elevated sweat chloride 1, modifier of 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_3 Bronchiectasis with or without elevated sweat chloride 3 Supplemental_disease_name DISEASE_NAME:bronze_diabetes Bronze diabetes 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: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_2 Bruck syndrome 2 Supplemental_disease_name DISEASE_NAME:brugada_syndrome_lidocaine_induced Brugada syndrome, lidocaine-induced Supplemental_disease_name DISEASE_NAME:brugada_syndrome_shorter_than_normal_qt_interval Brugada syndrome (shorter-than-normal QT interval) 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: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: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: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:c19orf12_related_disorder C19orf12-related disorder Supplemental_disease_name DISEASE_NAME:c19orf44_related_disorder C19orf44-related disorder 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:c1qb_related_disorder C1QB-related disorder Supplemental_disease_name DISEASE_NAME:c1qbp_related_disorder C1QBP-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_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: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: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: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_spots_multiple Cafe au lait spots, multiple Supplemental_disease_name DISEASE_NAME:café_au_lait_macules_with_pulmonary_stenosis Café-au-lait macules with pulmonary stenosis 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:calf_muscle_atrophy Calf muscle atrophy 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: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_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: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_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_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_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_2 Capillary malformation-arteriovenous malformation 2 Supplemental_disease_name DISEASE_NAME:capillary_malformation_arteriovenous_malformation_syndrome Capillary malformation-arteriovenous malformation 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: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: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:carcinoma_adrenocortical_androgen_secreting Carcinoma, adrenocortical, androgen-secreting 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_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_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_arrhythmia Cardiac arrhythmia Supplemental_disease_name DISEASE_NAME:cardiac_arrhythmia_ankyrin_b_related Cardiac arrhythmia, ankyrin-B-related 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_urogenital_syndrome Cardiac-urogenital syndrome 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:cardioacrofacial_dysplasia Cardioacrofacial dysplasia Supplemental_disease_name DISEASE_NAME:cardioacrofacial_dysplasia_1 Cardioacrofacial dysplasia 1 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_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: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_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_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_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_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_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_3 Cardiomyopathy, familial restrictive, 3 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_hypertrophic_midventricular_digenic Cardiomyopathy, hypertrophic, midventricular, digenic Supplemental_disease_name DISEASE_NAME:cardiomyopathy_hypotonia_lactic_acidosis_syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome Supplemental_disease_name DISEASE_NAME:cardiomyopathy_mitochondrial Cardiomyopathy, mitochondrial 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:cardiovascular Cardiovascular Supplemental_disease_name DISEASE_NAME:cardiovascular_heart_disease Cardiovascular/heart disease 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_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_neonatal_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, severe infantile 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:cars1_related_disorder CARS1-related disorder Supplemental_disease_name DISEASE_NAME:cars2_related_disorder CARS2-related disorder 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: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_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_17 Cataract 17 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_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_microcornea_syndrome Cataract - microcornea syndrome 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_2 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 Supplemental_disease_name DISEASE_NAME:cataracts_spastic_paraplegia_and_speech_delay CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY 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:caudal_duplication Caudal duplication Supplemental_disease_name DISEASE_NAME:caused_by_mutation_in_the_tafazzin_gene Caused by mutation in the tafazzin gene 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: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: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:ccdc141_related_disorder CCDC141-related disorder 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: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: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:ccl11_related_disorder CCL11-related disorder Supplemental_disease_name DISEASE_NAME:ccm2_related_disorder CCM2-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: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: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: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: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: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: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: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: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: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:cdt1_related_disorder CDT1-related disorder Supplemental_disease_name DISEASE_NAME:cdx1_related_disorder CDX1-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: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: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: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_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_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: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: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: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: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: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_brain_abnormalities_and_cardiac_conduction_defects Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 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_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_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_with_neuropathy_and_bilateral_vestibular_areflexia_syndrome Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 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_with_variable_cognitive_and_behavioral_abnormalities Cerebellar dysfunction with variable cognitive and behavioral abnormalities 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:cerebral_amyloid_angiopathy_app_related Cerebral amyloid angiopathy, APP-related 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_2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 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_atrophy Cerebral atrophy Supplemental_disease_name DISEASE_NAME:cerebral_calcification Cerebral calcification 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_hypomyelination Cerebral hypomyelination 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_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: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: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_6b_kufs_type Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 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: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:cfap410_related_disorder CFAP410-related disorder Supplemental_disease_name DISEASE_NAME:cfap418_related_disorder CFAP418-related disorder Supplemental_disease_name DISEASE_NAME:cfap52_related_disorder CFAP52-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:cfap74_related_disorder CFAP74-related disorder 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:cfi_related_disorder CFI-related disorder Supplemental_disease_name DISEASE_NAME:cfl2_related_disorder CFL2-related disorder Supplemental_disease_name DISEASE_NAME:cftr_related_disorder CFTR-related disorder 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:charcot_marie_tooth_disease_axonal_iia_2ii Charcot-Marie-Tooth disease, axonal, IIa 2II 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_2hh Charcot-Marie-Tooth disease, axonal, Type 2HH 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_2ll Charcot-Marie-Tooth disease, axonal, type 2LL 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_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_demyelinating_iia_1h Charcot-Marie-Tooth disease, demyelinating, IIA 1H 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_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_with_neutropenia Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia 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_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_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_2a Charcot-Marie-Tooth disease, type 2A 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_2t Charcot-Marie-Tooth disease type 2T 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_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:chat_related_disorder CHAT-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_risk CHEK2-related cancer risk Supplemental_disease_name DISEASE_NAME:chek2_related_disorder CHEK2-related disorder 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_2 Chilblain lupus 2 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_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_onset_autosomal_recessive_myopathy_with_external_ophthalmoplegia Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Supplemental_disease_name DISEASE_NAME:childhood_onset_epilepsy_syndrome Childhood-onset epilepsy syndrome 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_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:chine1 CHINE1 Supplemental_disease_name DISEASE_NAME:chine2 CHINE2 Supplemental_disease_name DISEASE_NAME:chitayat_syndrome Chitayat syndrome 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: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_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_intrahepatic_of_pregnancy_1 Cholestasis, intrahepatic, of pregnancy, 1 Supplemental_disease_name DISEASE_NAME:cholestasis_intrahepatic_of_pregnancy_3 Cholestasis, intrahepatic, of pregnancy, 3 Supplemental_disease_name DISEASE_NAME:cholestasis_pigmentary_retinopathy_cleft_palate_syndrome Cholestasis-pigmentary retinopathy-cleft palate syndrome Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_10 Cholestasis, progressive familial intrahepatic, 10 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_12 Cholestasis, progressive familial intrahepatic, 12 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_4 Cholestasis, progressive familial intrahepatic, 4 Supplemental_disease_name DISEASE_NAME:cholestasis_progressive_familial_intrahepatic_5 Cholestasis, progressive familial intrahepatic, 5 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:chondrocalcinosis_2 Chondrocalcinosis 2 Supplemental_disease_name DISEASE_NAME:chondrocalcinosis_2_sporadic CHONDROCALCINOSIS 2, SPORADIC Supplemental_disease_name DISEASE_NAME:chondrodysplasia_punctata_brachytelephalangic_autosomal Chondrodysplasia punctata, brachytelephalangic, autosomal 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:choreoacanthocytosis Choreoacanthocytosis Supplemental_disease_name DISEASE_NAME:choreoathetosis Choreoathetosis Supplemental_disease_name DISEASE_NAME:chorioretinal_coloboma Chorioretinal coloboma Supplemental_disease_name DISEASE_NAME:choroidal_dystrophy_central_areolar_1 Choroidal dystrophy, central areolar, 1 Supplemental_disease_name DISEASE_NAME:choroidal_dystrophy_central_areolar_2 Choroidal dystrophy, central areolar 2 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: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:chrna3_related_disorder CHRNA3-related disorder Supplemental_disease_name DISEASE_NAME:chrna4_related_disorder CHRNA4-related disorder 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: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_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_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_19q13_11_deletion_syndrome_distal Chromosome 19q13.11 deletion syndrome, distal Supplemental_disease_name DISEASE_NAME:chromosome_2p16_3_deletion_syndrome Chromosome 2p16.3 deletion syndrome 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_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_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_intestinal_pseudoobstruction Chronic intestinal pseudoobstruction 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_obstructive_pulmonary_disease_biomass_related Chronic obstructive pulmonary disease, biomass related Supplemental_disease_name DISEASE_NAME:chronic_osteomyelitis Chronic osteomyelitis 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:chédiak_higashi_syndrome Chédiak-Higashi syndrome Supplemental_disease_name DISEASE_NAME:cib1_related_disorder CIB1-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:ciita_related_disorder CIITA-related disorder Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_37 Ciliary dyskinesia, primary, 37 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_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_54 Ciliary dyskinesia, primary, 54 Supplemental_disease_name DISEASE_NAME:ciliary_dyskinesia_primary_7_with_situs_inversus CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS 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: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: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:ciz1_related_disorder CIZ1-related disorder 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_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: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: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: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_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_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_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_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: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: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: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:cmip_related_disorder CMIP-related 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: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:cntn1_related_disorder CNTN1-related disorder Supplemental_disease_name DISEASE_NAME:cntn2_related_disorder CNTN2-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:coach_syndrome_1 COACH syndrome 1 Supplemental_disease_name DISEASE_NAME:coach_syndrome_2 COACH syndrome 2 Supplemental_disease_name DISEASE_NAME:coach_syndrome_3 COACH syndrome 3 Supplemental_disease_name DISEASE_NAME:coagulation_factor_deficiency_syndrome Coagulation factor deficiency syndrome 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_plus_syndrome Coats plus syndrome Supplemental_disease_name DISEASE_NAME:cobalamin_c_disease Cobalamin C disease 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_type_2 Cockayne syndrome type 2 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_9 Coenzyme q10 deficiency, primary, 9 Supplemental_disease_name DISEASE_NAME:coffin_siris_intellectual_disability Coffin Siris/Intellectual Disability 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_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_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_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_with_or_without_cerebellar_ataxia Cognitive impairment with or without cerebellar ataxia Supplemental_disease_name DISEASE_NAME:cognitive_impairment_without_cerebellar_ataxia COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA Supplemental_disease_name DISEASE_NAME:cohen_gibson_syndrome Cohen-Gibson syndrome 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:col15a1_related_disorder COL15A1-related disorder Supplemental_disease_name DISEASE_NAME:col17a1_related_disorder COL17A1-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_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: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:col9a1_related_disorder COL9A1-related disorder Supplemental_disease_name DISEASE_NAME:col9a2_related_disorder COL9A2-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: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_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: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: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: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:colorectal_adenomatous_polyposis_autosomal_recessive_with_pilomatricomas Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Supplemental_disease_name DISEASE_NAME:colorectal_cancer_early_onset Colorectal cancer, early onset 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_6 Colorectal cancer, hereditary nonpolyposis, type 6 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_hereditary_nonpolyposis_type_7 Colorectal cancer, hereditary nonpolyposis, type 7 Supplemental_disease_name DISEASE_NAME:colorectal_cancer_non_polyposis Colorectal cancer, non-polyposis Supplemental_disease_name DISEASE_NAME:colorectal_cancer_protection_against Colorectal cancer, protection against 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_12 Colorectal cancer, susceptibility to, 12 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_endometrial_cancer Colorectal / endometrial cancer Supplemental_disease_name DISEASE_NAME:colorectal_polyposis Colorectal polyposis Supplemental_disease_name DISEASE_NAME:colorectal_tumor Colorectal tumor Supplemental_disease_name DISEASE_NAME:colostrum_secretion Colostrum secretion Supplemental_disease_name DISEASE_NAME:colton_blood_group_polymorphism COLTON BLOOD GROUP POLYMORPHISM 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_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_partial_rag1_deficiency Combined immunodeficiency due to partial RAG1 deficiency Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_due_to_stk4_deficiency Combined immunodeficiency due to STK4 deficiency Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_with_faciooculoskeletal_anomalies Combined immunodeficiency with faciooculoskeletal anomalies Supplemental_disease_name DISEASE_NAME:combined_immunodeficiency_x_linked Combined immunodeficiency, X-linked 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_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_14 Combined oxidative phosphorylation defect type 14 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_17 Combined oxidative phosphorylation defect type 17 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_25 Combined oxidative phosphorylation defect type 25 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_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_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_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_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_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_8_alpha_subunit_a_b_polymorphism COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM Supplemental_disease_name DISEASE_NAME:complement_component_c1s_deficiency Complement component C1s deficiency Supplemental_disease_name DISEASE_NAME:complement_factor_b_deficiency Complement factor b deficiency 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_mediated_glomerular_disease Complement-mediated glomerular disease Supplemental_disease_name DISEASE_NAME:complete_achromatopsia Complete achromatopsia 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_neurodevelopmental_disorder Complex neurodevelopmental disorder 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: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_and_rod_monochromatism Cone dystrophy and rod monochromatism 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_rod_dystrophy_23 Cone-rod dystrophy 23 Supplemental_disease_name DISEASE_NAME:cone_rod_dystrophy_aipl1_related CONE-ROD DYSTROPHY, AIPL1-RELATED 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_with_or_without_extraocular_features Cone-rod dystrophy with or without extraocular features 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_adrenal_hyperplasia_due_to_cytochrome_p450_oxidoreductase_deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Supplemental_disease_name DISEASE_NAME:congenital_adrenal_hypoplasia_x_linked Congenital adrenal hypoplasia, X-linked Supplemental_disease_name DISEASE_NAME:congenital_alveolar_dysplasia_due_to_tbx4 Congenital alveolar dysplasia due to TBX4 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_aniridia Congenital aniridia 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_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_perisylvian_syndrome Congenital bilateral perisylvian syndrome 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_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_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_chromosomal_disease Congenital chromosomal disease Supplemental_disease_name DISEASE_NAME:congenital_contracture Congenital contracture 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_disorder_of_connective_tissue Congenital disorder of connective tissue 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_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_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_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_vii_deficiency Congenital factor VII deficiency 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_type_1 Congenital fibrosis of extraocular muscles type 1 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_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_7 Congenital heart defects, multiple types, 7 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_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_hyperammonemia Congenital hyperammonemia Supplemental_disease_name DISEASE_NAME:congenital_hyperammonemia_type_i Congenital hyperammonemia, type I 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_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_ichthyosiform_erythroderma Congenital ichthyosiform erythroderma 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_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_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_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_multicore_myopathy_with_external_ophthalmoplegia Congenital multicore myopathy with external ophthalmoplegia 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_partial_lama2_deficiency Congenital muscular dystrophy due to partial LAMA2 deficiency Supplemental_disease_name DISEASE_NAME:congenital_muscular_dystrophy_lama2_related Congenital Muscular Dystrophy, LAMA2-related 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_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_myasthenic_syndrome_4 Congenital myasthenic syndrome 4 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_10b_mild_variant Congenital myopathy 10b, mild variant Supplemental_disease_name DISEASE_NAME:congenital_myopathy_11 Congenital myopathy 11 Supplemental_disease_name DISEASE_NAME:congenital_myopathy_22a_classic Congenital myopathy 22A, classic Supplemental_disease_name DISEASE_NAME:congenital_myopathy_22b_severe_fetal Congenital myopathy 22B, severe fetal 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_2c_severe_infantile_autosomal_dominant Congenital myopathy 2c, severe infantile, autosomal dominant Supplemental_disease_name DISEASE_NAME:congenital_myopathy_4a_autosomal_dominant Congenital myopathy 4A, autosomal dominant Supplemental_disease_name DISEASE_NAME:congenital_myopathy_4b_autosomal_recessive Congenital myopathy 4B, autosomal recessive 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_reduced_type_2_muscle_fibers Congenital myopathy with reduced type 2 muscle fibers Supplemental_disease_name DISEASE_NAME:congenital_myotonia_autosomal_recessive_form Congenital myotonia, autosomal recessive 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_nuclear_cataract Congenital nuclear cataract Supplemental_disease_name DISEASE_NAME:congenital_omphalocele Congenital omphalocele 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_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_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_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_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_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_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_total_pulmonary_venous_return_anomaly Congenital total pulmonary venous return anomaly 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: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: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_variable_skeletal_fusions_syndrome_1b Contractures, pterygia, and variable skeletal fusions syndrome 1B 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:cornea_plana_2 Cornea plana 2 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_3 Corneal dystrophy, Fuchs endothelial, 3 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_4 Corneal dystrophy, Fuchs endothelial, 4 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_fuchs_endothelial_6 Corneal dystrophy, Fuchs endothelial, 6 Supplemental_disease_name DISEASE_NAME:corneal_dystrophy_lattice_type_3a Corneal dystrophy, lattice type 3A 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_posterior_polymorphous_4 Corneal dystrophy, posterior polymorphous, 4 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:cornelia_de_lange_like_syndrome Cornelia de Lange-like 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_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_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_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_sclerosis_medial_of_infancy Coronary sclerosis, medial, of infancy Supplemental_disease_name DISEASE_NAME:corpus_callosum_agenesis_of Corpus callosum, agenesis of 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_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_tubers Cortical tubers 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_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: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: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:cox5a_related_disorder COX5A-related disorder Supplemental_disease_name DISEASE_NAME:cox6a1_related_disorder COX6A1-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:cp_related_disorder CP-related disorder Supplemental_disease_name DISEASE_NAME:cpa1_related_disorder CPA1-related disorder Supplemental_disease_name DISEASE_NAME:cpa6_related_disorder CPA6-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: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:cr2_related_disorder CR2-related disorder Supplemental_disease_name DISEASE_NAME:cradd_related_disorder CRADD-related disorder 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:craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome Craniofacial anomalies and anterior segment dysgenesis syndrome 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_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_susceptibility_to CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 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_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: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_ii Crigler-Najjar syndrome, type II 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: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:cromer_blood_group_system Cromer blood group system Supplemental_disease_name DISEASE_NAME:crtap_related_disorder CRTAP-related disorder 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: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: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:crygb_related_disorder CRYGB-related disorder Supplemental_disease_name DISEASE_NAME:crygc_related_disorder CRYGC-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:cryopyrin_associated_periodic_syndrome Cryopyrin associated periodic syndrome 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: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: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: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: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_jones_syndrome Curry-Jones syndrome 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_2 Cutis laxa, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:cutis_laxa_autosomal_dominant_3 Cutis laxa, autosomal dominant 3 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_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_with_osteodystrophy Cutis laxa with osteodystrophy Supplemental_disease_name DISEASE_NAME:cutis_laxa_x_linked Cutis laxa, X-linked 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:cxcr4_related_disorder CXCR4-related disorder Supplemental_disease_name DISEASE_NAME:cyanosis_transient_neonatal Cyanosis transient neonatal 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: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: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:cyp26b1_related_disorder CYP26B1-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: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: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_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_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: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:cytosolic_phospholipase_a2_alpha_deficiency_associated_bleeding_disorder Cytosolic phospholipase-A2 alpha deficiency associated bleeding 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: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:dalrd3_related_disorder DALRD3-related disorder Supplemental_disease_name DISEASE_NAME:dap3_related_disorder DAP3-related disorder 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: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: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:dcdc2_related_disorder DCDC2-related disorder 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: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: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: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: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_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_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_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_syndrome Deafness-infertility syndrome Supplemental_disease_name DISEASE_NAME:deafness_lymphedema_leukemia_syndrome Deafness-lymphedema-leukemia syndrome Supplemental_disease_name DISEASE_NAME:deafness_mitochondrial_modifier_of Deafness, mitochondrial, modifier of 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: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_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_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_immunoglobulin_concentration Decreased circulating immunoglobulin concentration 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_neutrophil_count Decreased total neutrophil count Supplemental_disease_name DISEASE_NAME:deeah_syndrome DEEAH syndrome 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:def6_related_disorder DEF6-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_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_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_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_17_alpha_monooxygenase Deficiency of steroid 17-alpha-monooxygenase 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:dejerine_sottas_disease Dejerine-Sottas disease 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_gross_motor_development Delayed gross motor development 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:deleterious_rad51d_gene_mutation Deleterious RAD51D Gene Mutation Supplemental_disease_name DISEASE_NAME:delpire_mcneill_syndrome Delpire-McNeill syndrome 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_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: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:dennd4b_related_disorder DENND4B-related disorder Supplemental_disease_name DISEASE_NAME:dennd5a_related_disorder DENND5A-related disorder 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_2 Dent disease type 2 Supplemental_disease_name DISEASE_NAME:dentici_novelli_neurodevelopmental_syndrome Dentici-Novelli neurodevelopmental syndrome Supplemental_disease_name DISEASE_NAME:dentinogenesis_imperfecta_type_2 Dentinogenesis imperfecta type 2 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_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_due_to_wac_point_mutation DeSanto-Shinawi syndrome due to WAC point mutation Supplemental_disease_name DISEASE_NAME:desbuquois_dysplasia_1 Desbuquois dysplasia 1 Supplemental_disease_name DISEASE_NAME:desbuquois_dysplasia_2 Desbuquois dysplasia 2 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:desmoid_disease_hereditary Desmoid disease, hereditary Supplemental_disease_name DISEASE_NAME:desmoid_tumor_caused_by_somatic_mutation Desmoid tumor caused by somatic mutation Supplemental_disease_name DISEASE_NAME:deutetrabenazine_response Deutetrabenazine response 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_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_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_defect_during_embryogenesis Developmental defect during embryogenesis Supplemental_disease_name DISEASE_NAME:developmental_delay Developmental delay 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_hypotonia_musculoskeletal_defects_and_behavioral_abnormalities Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 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_speech_and_behavioral_abnormalities Developmental delay, impaired speech, and behavioral abnormalities 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_language_impairment_and_ocular_abnormalities Developmental delay, language impairment, and ocular abnormalities 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_dysmorphic_facies_and_dental_anomalies Developmental delay with dysmorphic facies and dental anomalies 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_epilepsy Developmental delay with or without epilepsy 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_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_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_regression Developmental regression 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: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_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_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_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_permanent_neonatal_2 Diabetes mellitus, permanent neonatal 2 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_3 Diabetes mellitus, permanent neonatal 3 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_permanent_neonatal_4 Diabetes mellitus, permanent neonatal 4 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_3 Diabetes mellitus, transient neonatal, 3 Supplemental_disease_name DISEASE_NAME:diabetes_mellitus_type_1 Diabetes mellitus type 1 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_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_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:diaphragmatic_hernia_3 Diaphragmatic hernia 3 Supplemental_disease_name DISEASE_NAME:diaphragmatic_hernia_4_with_cardiovascular_defects Diaphragmatic hernia 4, with cardiovascular defects 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_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:diastolic_dysfunction Diastolic dysfunction Supplemental_disease_name DISEASE_NAME:diastrophic_dysplasia_broad_bone_platyspondylic_variant DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT 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: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:diets_jongmans_syndrome Diets-Jongmans syndrome Supplemental_disease_name DISEASE_NAME:differences_in_sex_development Differences in sex development 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_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: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: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_dominant Dilated Cardiomyopathy, Dominant 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_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:disproportionate_short_stature Disproportionate short stature Supplemental_disease_name DISEASE_NAME:disproportionate_tall_stature Disproportionate tall stature 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_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_muscle_weakness Distal lower limb muscle weakness Supplemental_disease_name DISEASE_NAME:distal_monosomy_10p Distal monosomy 10p 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: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:dkc1_related_disorder DKC1-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: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:dmap1_associated_disorder DMAP1-associated disorder Supplemental_disease_name DISEASE_NAME:dmap1_related_disorder DMAP1-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: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_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: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: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: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: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:dominant_beta_thalassemia Dominant 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:dopamine_agonists_response Dopamine agonists response 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:down_syndrome_susceptibility_to Down syndrome, susceptibility to Supplemental_disease_name DISEASE_NAME:dpagt1_congenital_disorder_of_glycosylation DPAGT1-congenital disorder of glycosylation 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:dpp10_related_disorder DPP10-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: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: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: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:dtna_related_disorder DTNA-related disorder Supplemental_disease_name DISEASE_NAME:dtnbp1_related_disorder DTNBP1-related disorder 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_syndrome_type_1 Duane syndrome type 1 Supplemental_disease_name DISEASE_NAME:duchenne_and_becker_muscular_dystrophy Duchenne and Becker muscular dystrophy Supplemental_disease_name DISEASE_NAME:duchenne_or_becker_muscular_dystrophy Duchenne or Becker muscular dystrophy 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: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: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:dyschromatosis_universalis_hereditaria_1 Dyschromatosis universalis hereditaria 1 Supplemental_disease_name DISEASE_NAME:dyschromatosis_universalis_hereditaria_3 Dyschromatosis universalis hereditaria 3 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_2 Dyskeratosis congenita, autosomal dominant 2 Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_autosomal_dominant_3 Dyskeratosis congenita, autosomal dominant 3 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_2 Dyskeratosis congenita, autosomal recessive 2 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_6 Dyskeratosis congenita, autosomal recessive 6 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_digenic Dyskeratosis congenita, digenic Supplemental_disease_name DISEASE_NAME:dyskeratosis_congenita_x_linked Dyskeratosis congenita, X-linked 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_recessive Dyskinesia with orofacial involvement, autosomal recessive Supplemental_disease_name DISEASE_NAME:dyslexia_susceptibility_to_1 Dyslexia, susceptibility to, 1 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:dysosteosclerosis Dysosteosclerosis 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_1_torsion_late_onset Dystonia 1, torsion, late-onset Supplemental_disease_name DISEASE_NAME:dystonia_34_myoclonic Dystonia 34, myoclonic Supplemental_disease_name DISEASE_NAME:dystonia_38_susceptibility_to Dystonia 38, susceptibility to 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_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_primary_cervical Dystonia, primary cervical Supplemental_disease_name DISEASE_NAME:dystonic_disorder Dystonic disorder Supplemental_disease_name DISEASE_NAME:dystrophin_deficiency Dystrophin deficiency 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_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_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_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_neurohypophyseal_diabetes_insipidus early-onset neurohypophyseal diabetes insipidus Supplemental_disease_name DISEASE_NAME:early_onset_non_syndromic_cataract Early-onset non-syndromic cataract 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_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: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: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_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_11b_hypohidrotic_hair_tooth_type_autosomal_dominant ECTODERMAL DYSPLASIA 11B, 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_17_with_or_without_limb_malformations Ectodermal dysplasia 17 with or without limb malformations 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_2_isolated_autosomal_recessive 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:eculizumab_poor_response_to Eculizumab, poor response to 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: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: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: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: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: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: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_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_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_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: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: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: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_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_serum_creatine_phosphokinase Elevated serum creatine phosphokinase 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_3 Elliptocytosis 3 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: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: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_6 Emery-Dreifuss muscular dystrophy 6 Supplemental_disease_name DISEASE_NAME:emg1_related_disorder EMG1-related disorder 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: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: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:encephalocraniocutaneous_lipomatosis Encephalocraniocutaneous lipomatosis 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_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_susceptibility_to_4 Encephalopathy, acute, infection-induced, susceptibility to, 4 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_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_mitochondrial_and_peroxisomal_fission_defect Encephalopathy due to mitochondrial and peroxisomal fission defect 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_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:enchondromatosis Enchondromatosis 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:endometrioid_adenocarcinoma Endometrioid adenocarcinoma Supplemental_disease_name DISEASE_NAME:endove_syndrome_limb_brain_type ENDOVE syndrome, limb-brain type 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:enhancement_of_the_c_reflex Enhancement of the C-reflex 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: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:epidermal_disease Epidermal disease 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_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_2b_severe Epidermolysis bullosa, junctional 2B, severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_3a_intermediate Epidermolysis bullosa, junctional 3A, intermediate Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_3b_severe Epidermolysis bullosa, junctional 3B, severe Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_4_intermediate Epidermolysis bullosa, junctional 4, intermediate Supplemental_disease_name DISEASE_NAME:epidermolysis_bullosa_junctional_5a_intermediate Epidermolysis bullosa, junctional 5A, intermediate 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_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_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_2a_generalized_severe Epidermolysis bullosa simplex 2A, generalized severe 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_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_5c_with_pyloric_atresia Epidermolysis bullosa simplex 5C, with pyloric atresia 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_due_to_plakophilin_deficiency Epidermolysis bullosa simplex due to plakophilin deficiency 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: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_nevus Epidermolytic nevus 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_childhood_absence_4 Epilepsy, childhood absence 4 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_2 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 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_6 Epilepsy, childhood absence, susceptibility to, 6 Supplemental_disease_name DISEASE_NAME:epilepsy_due_to_perinatal_stroke Epilepsy due to perinatal stroke 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_familial_adult_myoclonic_1 Epilepsy, familial adult myoclonic, 1 Supplemental_disease_name DISEASE_NAME:epilepsy_familial_adult_myoclonic_2 Epilepsy, familial adult myoclonic, 2 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_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_temporal_lobe_1 Epilepsy, familial temporal lobe, 1 Supplemental_disease_name DISEASE_NAME:epilepsy_focal_scn3a_related Epilepsy, focal, SCN3A related 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_12 Epilepsy, idiopathic generalized, susceptibility to, 12 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_14 Epilepsy, idiopathic generalized, susceptibility to, 14 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_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_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_9 Epilepsy, idiopathic generalized, susceptibility to, 9 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_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_of_infancy_with_migrating_focal_seizures Epilepsy of infancy with migrating focal seizures 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_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_6 Epiphyseal dysplasia, multiple, 6 Supplemental_disease_name DISEASE_NAME:epiphyseal_dysplasia_multiple_7 Epiphyseal dysplasia, multiple, 7 Supplemental_disease_name DISEASE_NAME:episodic_ataxia_type_2_and_epilepsy Episodic ataxia, type 2, and epilepsy Supplemental_disease_name DISEASE_NAME:episodic_coma Episodic coma Supplemental_disease_name DISEASE_NAME:episodic_kinesigenic_dyskinesia Episodic kinesigenic dyskinesia 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:epithelial_ovarian_cancer Epithelial ovarian cancer 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: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_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_jak2_related_somatic ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC Supplemental_disease_name DISEASE_NAME:erythrokeratodermia_variabilis_et_progressiva erythrokeratodermia variabilis et progressiva 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: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_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:esrrb_related_disorder ESRRB-related disorder Supplemental_disease_name DISEASE_NAME:essential_hypertension_genetic Essential hypertension, genetic 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: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: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:even_plus_syndrome Even-plus syndrome 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: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_malignant_hyperthermia Exercise-induced malignant hyperthermia Supplemental_disease_name DISEASE_NAME:exercise_intolerance Exercise intolerance Supplemental_disease_name DISEASE_NAME:exercise_intolerance_cardiomyopathy_and_septooptic_dysplasia Exercise intolerance, cardiomyopathy, and septooptic dysplasia 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_2 Exostoses, multiple, type 2 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:ext1_related_disorder EXT1-related disorder Supplemental_disease_name DISEASE_NAME:ext2_related_disorder EXT2-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_4_autosomal_dominant Exudative vitreoretinopathy 4, autosomal dominant 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_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:facial_asymmetry Facial asymmetry Supplemental_disease_name DISEASE_NAME:facial_dysmorphism Facial dysmorphism 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_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_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: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: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_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_hong_kong Factor V Hong Kong 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_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:fam111a_related_disorder FAM111A-related disorder Supplemental_disease_name DISEASE_NAME:fam111b_related_disorder FAM111B-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: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:familial_acute_necrotizing_encephalopathy Familial acute necrotizing encephalopathy 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_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_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_atrioventricular_septal_defect Familial atrioventricular septal defect 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_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_cardiofaciocutaneous_syndrome Familial cardiofaciocutaneous syndrome Supplemental_disease_name DISEASE_NAME:familial_cardiomyopathy Familial cardiomyopathy Supplemental_disease_name DISEASE_NAME:familial_chronic_mucocutaneous_candidiasis Familial chronic mucocutaneous candidiasis 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_colorectal_cancer Familial colorectal cancer Supplemental_disease_name DISEASE_NAME:familial_colorectal_cancer_type_x Familial colorectal cancer type X 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_cylindromatosis Familial cylindromatosis 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_dysfibrinogenemia Familial dysfibrinogenemia 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_upper_body_involvement Familial episodic pain syndrome with predominantly upper body involvement 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_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_iii Familial hyperaldosteronism type III 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_hyperparathyroidism_or_hypocalciuric_hypercalcaemia Familial hyperparathyroidism or Hypocalciuric hypercalcaemia Supplemental_disease_name DISEASE_NAME:familial_hyperprolactinemia Familial hyperprolactinemia 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_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_hypodysfibrinogenemia Familial hypodysfibrinogenemia Supplemental_disease_name DISEASE_NAME:familial_hypokalemia_hypomagnesemia Familial hypokalemia-hypomagnesemia 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_intrahepatic_cholestasis Familial intrahepatic cholestasis 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_mediterranean_fever_autosomal_dominant Familial Mediterranean fever, autosomal dominant 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_ovarian_cancer Familial ovarian cancer Supplemental_disease_name DISEASE_NAME:familial_pancreatic_carcinoma Familial pancreatic carcinoma 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_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_prostate_cancer Familial prostate cancer Supplemental_disease_name DISEASE_NAME:familial_pseudohyperkalemia Familial pseudohyperkalemia 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_spontaneous_pneumothorax Familial spontaneous pneumothorax 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_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_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_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: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_m Fanconi anemia, complementation group M Supplemental_disease_name DISEASE_NAME:fanconi_renotubular_syndrome Fanconi renotubular syndrome 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:far1_related_disorder FAR1-related disorder Supplemental_disease_name DISEASE_NAME:far1_related_neurodevelopmental_disorder FAR1-related neurodevelopmental disorder 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: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: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: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: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:fbxo31_related_disorder FBXO31-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: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: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: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_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_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_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_8 Febrile seizures, familial, 8 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:feingold_syndrome_type_1 Feingold syndrome type 1 Supplemental_disease_name DISEASE_NAME:fem1c_related_intellectual_disability FEM1C-related intellectual disability Supplemental_disease_name DISEASE_NAME:female_infertility Female infertility 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_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_2 Fetal akinesia deformation sequence 2 Supplemental_disease_name DISEASE_NAME:fetal_akinesia_deformation_sequence_3 Fetal akinesia deformation sequence 3 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_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: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_3 Fetomaternal alloimmune thrombocytopenia 3 Supplemental_disease_name DISEASE_NAME:fg_syndrome_1 FG syndrome 1 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: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:fgf13_related_disorder FGF13-related disorder Supplemental_disease_name DISEASE_NAME:fgf14_related_disorder FGF14-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:fgf8_related_disorder FGF8-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: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:fibromatosis_gingival_1 Fibromatosis, gingival, 1 Supplemental_disease_name DISEASE_NAME:fibromatosis_gingival_5 Fibromatosis, gingival, 5 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: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_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_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:filip1l_related_disorder FILIP1L-related disorder Supplemental_disease_name DISEASE_NAME:fine_lubinsky_syndrome Fine-Lubinsky syndrome 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:fkbp10_related_disorder FKBP10-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: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: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: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_clonic_seizure Focal clonic seizure 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_facial_dermal_dysplasia_type_iii Focal facial dermal dysplasia type III Supplemental_disease_name DISEASE_NAME:focal_impaired_awareness_seizure Focal impaired awareness seizure Supplemental_disease_name DISEASE_NAME:focal_onset_seizure Focal-onset seizure 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_and_neurodevelopmental_syndrome Focal segmental glomerulosclerosis and neurodevelopmental syndrome 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_3 Foveal hypoplasia 3 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:foxd2_associated_disorder FOXD2-associated disorder Supplemental_disease_name DISEASE_NAME:foxd3_related_disorder FOXD3-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:fpr1_polymorphism FPR1 POLYMORPHISM Supplemental_disease_name DISEASE_NAME:fpr1_related_disorder FPR1-related disorder 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: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: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:frmd7_related_disorder FRMD7-related disorder Supplemental_disease_name DISEASE_NAME:frmpd4_related_disorder FRMPD4-related disorder 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:frontotemporal_dementia Frontotemporal dementia 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_5 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 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_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_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:fructose_biphosphatase_deficiency Fructose-biphosphatase deficiency 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:fulminant_hepatic_failure Fulminant hepatic failure Supplemental_disease_name DISEASE_NAME:fumarylacetoacetase_pseudodeficiency Fumarylacetoacetase pseudodeficiency 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:fut8_related_disorder FUT8-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: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:fzd6_related_disorder FZD6-related disorder Supplemental_disease_name DISEASE_NAME:g6pc1_related_disorder G6PC1-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_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: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:gad1_related_disorder GAD1-related disorder Supplemental_disease_name DISEASE_NAME:gait_ataxia Gait ataxia 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: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:galloway_mowat_syndrome_2_x_linked Galloway-Mowat syndrome 2, X-linked 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: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:galnt9_related_disorder GALNT9-related disorder Supplemental_disease_name DISEASE_NAME:galntl5_related_disorder GALNTL5-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: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_growth_retardation_and_developmental_delay GARS-associated growth retardation and developmental delay 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: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_hemorrhage Gastrointestinal hemorrhage Supplemental_disease_name DISEASE_NAME:gastrointestinal_polyposis Gastrointestinal polyposis Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_familial Gastrointestinal stromal tumor, familial Supplemental_disease_name DISEASE_NAME:gastrointestinal_stromal_tumor_of_small_intestine Gastrointestinal stromal tumor of small intestine 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_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: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_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_ii Gaucher disease type II Supplemental_disease_name DISEASE_NAME:gaucher_disease_type_iii Gaucher disease type III 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: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: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:gdf5_related_disorder GDF5-related disorder 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: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_epilepsy_paroxysmal_dyskinesia_syndrome Generalized epilepsy-paroxysmal dyskinesia syndrome 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_type_12 Generalized epilepsy with febrile seizures plus, type 12 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_hypotonia Generalized hypotonia Supplemental_disease_name DISEASE_NAME:generalized_juvenile_polyposis_juvenile_polyposis_coli Generalized juvenile polyposis/juvenile polyposis coli 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_onset_seizure Generalized-onset seizure 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:genitopatellar_syndrome Genitopatellar syndrome Supplemental_disease_name DISEASE_NAME:genitourinary_and_or_brain_malformation_syndrome Genitourinary and/or brain malformation syndrome Supplemental_disease_name DISEASE_NAME:germ_cell_tumor Germ cell 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:ghr_related_disorder GHR-related disorder Supplemental_disease_name DISEASE_NAME:ghrelin_polymorphism GHRELIN POLYMORPHISM 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: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:gingival_disorder Gingival disorder Supplemental_disease_name DISEASE_NAME:gingival_fibromatosis_hypertrichosis_syndrome Gingival fibromatosis-hypertrichosis syndrome 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: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: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_2 Glanzmann thrombasthenia 2 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_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_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_e Glaucoma 3, primary congenital, E Supplemental_disease_name DISEASE_NAME:glaucoma_3_primary_infantile_b Glaucoma 3, primary infantile, B Supplemental_disease_name DISEASE_NAME:glaucoma_3a Glaucoma 3A 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_primary_open_angle_juvenile_onset Glaucoma, primary open angle, juvenile-onset 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: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_2 Glioma susceptibility 2 Supplemental_disease_name DISEASE_NAME:glioma_susceptibility_3 Glioma susceptibility 3 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_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_lung_cysts_overgrowth_wilms_tumor_syndrome Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 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_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_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:glomerular_sclerosis Glomerular sclerosis Supplemental_disease_name DISEASE_NAME:glomerulopathy_with_fibronectin_deposits Glomerulopathy with fibronectin deposits Supplemental_disease_name DISEASE_NAME:glomerulopathy_with_fibronectin_deposits_2 Glomerulopathy with fibronectin deposits 2 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_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: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_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:gluthathione_peroxidase_deficiency Gluthathione peroxidase deficiency Supplemental_disease_name DISEASE_NAME:glycemia_variation GLYCEMIA VARIATION 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_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_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_infantile Glycogen storage disease type II, infantile Supplemental_disease_name DISEASE_NAME:glycogen_storage_disease_type_x Glycogen storage disease type X 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_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_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: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_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: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:gnb4_related_disorder GNB4-related disorder Supplemental_disease_name DISEASE_NAME:gnb5_related_disorder GNB5-related disorder Supplemental_disease_name DISEASE_NAME:gnb5_reled_disorder GNB5-reled disorder 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: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: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:gorab_related_disorder GORAB-related disorder Supplemental_disease_name DISEASE_NAME:gorham_stout_disease Gorham-Stout disease 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: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: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: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: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:gpr68_related_disorder GPR68-related disorder 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:gracile_bone_dysplasia Gracile bone dysplasia 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: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: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: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: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_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_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_with_immune_dysregulation_1_autosomal_recessive Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 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:gsdme_related_disorder GSDME-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:gtf2e2_related_disorder GTF2E2-related disorder Supplemental_disease_name DISEASE_NAME:gtf2h5_related_disorder GTF2H5-related disorder 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_with_hyperphenylalaninemia GTP cyclohydrolase I deficiency with hyperphenylalaninemia 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: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: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:h1_4_related_disorder H1-4-related disorder Supplemental_disease_name DISEASE_NAME:h3_3a_related_disorder H3-3A-related disorder Supplemental_disease_name DISEASE_NAME:h3f3a_related_disorder H3F3A-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:hacd1_related_disorder HACD1-related 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:hair_morphology_1_hair_thickness Hair morphology 1, hair thickness 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_tumor_syndrome hamartoma tumor syndrome Supplemental_disease_name DISEASE_NAME:hamartomatous_polyposis Hamartomatous polyposis 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_muscle_atrophy Hand muscle atrophy Supplemental_disease_name DISEASE_NAME:hand_polydactyly Hand polydactyly 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: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: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_syndrome Hartsfield syndrome Supplemental_disease_name DISEASE_NAME:hashimoto_thyroiditis_susceptibility_to Hashimoto thyroiditis, susceptibility to 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: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: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: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: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:hdlbp_related_disorder HDLBP-related disorder Supplemental_disease_name DISEASE_NAME:hearing_impairment Hearing impairment 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_37 Hearing loss, autosomal dominant 37 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_71 Hearing loss, autosomal dominant 71 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_dominant_72 Hearing loss, autosomal dominant 72 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_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_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_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_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_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_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_114 Hearing loss, autosomal recessive 114 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_116 Hearing loss, autosomal recessive 116 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_119 Hearing loss, autosomal recessive 119 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_120 Hearing loss, autosomal recessive 120 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_94 Hearing loss, autosomal recessive 94 Supplemental_disease_name DISEASE_NAME:hearing_loss_autosomal_recessive_99 Hearing loss, autosomal recessive 99 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_dysfunction Heart dysfunction Supplemental_disease_name DISEASE_NAME:heart_failure Heart failure 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: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:helicobacter_pylori_infection_susceptibility_to Helicobacter pylori infection, susceptibility to Supplemental_disease_name DISEASE_NAME:hells_related_disorder HELLS-related disorder Supplemental_disease_name DISEASE_NAME:hemangiomatosis Hemangiomatosis 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_2 Hematuria, benign familial, 2 Supplemental_disease_name DISEASE_NAME:heme_oxygenase_1_deficiency Heme oxygenase 1 deficiency 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:hemiplegia_hemiparesis Hemiplegia/hemiparesis Supplemental_disease_name DISEASE_NAME:hemiplegic_migraine_developmental_and_epileptic_encephalopathy_spectrum Hemiplegic migraine-developmental and epileptic encephalopathy spectrum Supplemental_disease_name DISEASE_NAME:hemochromatosis_type_1_modifier_of Hemochromatosis, type 1, 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_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_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_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_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_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_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_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_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_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_complutense HEMOGLOBIN COMPLUTENSE 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_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_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_deaconess HEMOGLOBIN DEACONESS Supplemental_disease_name DISEASE_NAME:hemoglobin_debrousse HEMOGLOBIN DEBROUSSE 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_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_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_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_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_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_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_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_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_nondeletional Hemoglobin H disease, nondeletional 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_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_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_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_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_ilmenau HEMOGLOBIN ILMENAU Supplemental_disease_name DISEASE_NAME:hemoglobin_indianapolis HEMOGLOBIN INDIANAPOLIS 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_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_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_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_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_kurashiki HEMOGLOBIN KURASHIKI 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_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_manhattan HEMOGLOBIN MANHATTAN 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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_summer_hill HEMOGLOBIN SUMMER HILL 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_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_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_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: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_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_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_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_7 Hemolytic uremic syndrome, atypical, susceptibility to, 7 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: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_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_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:hepatitis_b_virus_susceptibility_to Hepatitis B virus, susceptibility to 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:hepatocellular_cancer Hepatocellular cancer Supplemental_disease_name DISEASE_NAME:hepatocellular_carcinoma_hepatocarcinoma_hepatoma Hepatocellular carcinoma/hepatocarcinoma/hepatoma Supplemental_disease_name DISEASE_NAME:hepatorenocardiac_degenerative_fibrosis Hepatorenocardiac degenerative fibrosis Supplemental_disease_name DISEASE_NAME:hepatosplenomegaly Hepatosplenomegaly 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_3 Hereditary angioedema type 3 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_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_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_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_cryohydrocytosis_with_reduced_stomatin Hereditary cryohydrocytosis with reduced stomatin 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_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_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_viii_deficiency_disease Hereditary factor VIII deficiency disease 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_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_hypercarotenemia_and_vitamin_a_deficiency Hereditary hypercarotenemia and vitamin A 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_leiomyomatosis_and_renal_cell_cancer Hereditary leiomyomatosis and renal cell cancer Supplemental_disease_name DISEASE_NAME:hereditary_liability_to_pressure_palsies Hereditary liability to pressure palsies Supplemental_disease_name DISEASE_NAME:hereditary_lipodystrophy Hereditary lipodystrophy 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_with_optic_atrophy Hereditary motor and sensory neuropathy with optic atrophy 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_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_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_gamborg_nielsen_type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type Supplemental_disease_name DISEASE_NAME:hereditary_pancreatitis Hereditary pancreatitis 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_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_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_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_49 Hereditary spastic paraplegia 49 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_72 Hereditary spastic paraplegia 72 Supplemental_disease_name DISEASE_NAME:hereditary_spastic_paraplegia_hsp Hereditary Spastic Paraplegia (HSP) 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_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_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: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_1_x_linked Heterotaxy, visceral, 1, X-linked 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_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: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: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: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: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: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_6 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 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_early_onset High myopia, early-onset Supplemental_disease_name DISEASE_NAME:high_palate High palate 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: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_2 Hirschsprung disease, susceptibility to, 2 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: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: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_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_b_related_disorder HLA-B-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: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: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:holoprosencephaly_10 Holoprosencephaly 10 Supplemental_disease_name DISEASE_NAME:holoprosencephaly_14 Holoprosencephaly 14 Supplemental_disease_name DISEASE_NAME:holoprosencephaly_hypokinesia_congenital_contractures_syndrome Holoprosencephaly-hypokinesia-congenital contractures syndrome Supplemental_disease_name DISEASE_NAME:holoprosencephaly_spectrum_disorder Holoprosencephaly spectrum disorder Supplemental_disease_name DISEASE_NAME:homocysteine_level_elevated Homocysteine level elevated 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_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_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: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:hoxd13_related_disorder HOXD13-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: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:hsd10_mitochondrial_disease HSD10 mitochondrial disease 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: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: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_increased_perinatal_transmission_of Human immunodeficiency virus type 1, increased perinatal transmission of 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:huntington_disease_like_syndrome Huntington disease-like syndrome Supplemental_disease_name DISEASE_NAME:huppke_brendel_syndrome Huppke-Brendel syndrome 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: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_4 Hydatidiform mole, recurrent, 4 Supplemental_disease_name DISEASE_NAME:hydin_related_disorder HYDIN-related disorder 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_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_nonsyndromic_autosomal_recessive_1 Hydrocephalus, nonsyndromic, autosomal recessive 1 Supplemental_disease_name DISEASE_NAME:hydrocephalus_nonsyndromic_autosomal_recessive_2 Hydrocephalus, nonsyndromic, autosomal recessive 2 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:hydrops_fetalis Hydrops fetalis 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: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_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_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:hyperaldosteronism_familial_type_iv Hyperaldosteronism, familial, type IV Supplemental_disease_name DISEASE_NAME:hyperalphalipoproteinemia Hyperalphalipoproteinemia Supplemental_disease_name DISEASE_NAME:hyperammonemia Hyperammonemia 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: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: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_familial_1 Hypercholesterolemia, familial, 1 Supplemental_disease_name DISEASE_NAME:hypercholesterolemia_familial_4 Hypercholesterolemia, familial, 4 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: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:hyperglycinuria Hyperglycinuria 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_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:hyperinsulinemic_hypoglycemia_familial_1 Hyperinsulinemic hypoglycemia, familial, 1 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_2 Hyperinsulinemic hypoglycemia, familial, 2 Supplemental_disease_name DISEASE_NAME:hyperinsulinemic_hypoglycemia_familial_3 Hyperinsulinemic hypoglycemia, familial, 3 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: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:hyperlipidemia Hyperlipidemia Supplemental_disease_name DISEASE_NAME:hyperlipidemia_familial_combined_lpl_related Hyperlipidemia, familial combined, LPL related 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_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_type_i HYPERLYSINEMIA, TYPE I 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_2_with_jaw_tumors Hyperparathyroidism 2 with jaw tumors Supplemental_disease_name DISEASE_NAME:hyperparathyroidism_4 Hyperparathyroidism 4 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: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_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: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:hyperplastic_polyposis_syndrome Hyperplastic polyposis syndrome Supplemental_disease_name DISEASE_NAME:hyperproinsulinemia Hyperproinsulinemia Supplemental_disease_name DISEASE_NAME:hypertelorism_and_tetralogy_of_fallot Hypertelorism and tetralogy of fallot 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_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_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_familial_dysalbuminemic Hyperthyroxinemia, familial dysalbuminemic Supplemental_disease_name DISEASE_NAME:hypertrichotic_osteochondrodysplasia Hypertrichotic osteochondrodysplasia Supplemental_disease_name DISEASE_NAME:hypertriglyceridemia Hypertriglyceridemia Supplemental_disease_name DISEASE_NAME:hypertriglyceridemia_1 Hypertriglyceridemia 1 Supplemental_disease_name DISEASE_NAME:hypertriglyceridemia_2 Hypertriglyceridemia 2 Supplemental_disease_name DISEASE_NAME:hypertrophic_cardiomyopathie hypertrophic cardiomyopathie Supplemental_disease_name DISEASE_NAME:hypertrophic_osteoarthropathy_primary_autosomal_dominant Hypertrophic osteoarthropathy, primary, autosomal dominant 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_2 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 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:hyperzincemia_and_hypercalprotectinemia Hyperzincemia and hypercalprotectinemia 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_2 Hypoalphalipoproteinemia, primary, 2 Supplemental_disease_name DISEASE_NAME:hypoalphalipoproteinemia_primary_2_intermediate Hypoalphalipoproteinemia, primary, 2, intermediate 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: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_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_21_with_anosmia_susceptibility_to HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 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_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_3_without_anosmia HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_5_without_anosmia HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA Supplemental_disease_name DISEASE_NAME:hypogonadotropic_hypogonadism_8_without_anosmia Hypogonadotropic hypogonadism 8 without anosmia 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: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:hypoinsulinemia Hypoinsulinemia Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_1 Hypokalemic periodic paralysis, type 1 Supplemental_disease_name DISEASE_NAME:hypokalemic_periodic_paralysis_type_2 Hypokalemic periodic paralysis, type 2 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_seizures_and_intellectual_disability_1 Hypomagnesemia, seizures, and intellectual disability 1 Supplemental_disease_name DISEASE_NAME:hypomagnesemia_seizures_and_intellectual_disability_2 Hypomagnesemia, seizures, and intellectual disability 2 Supplemental_disease_name DISEASE_NAME:hypomaturation_hypoplastic_amelogenesis_imperfecta_with_taurodontism Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 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:hypomyelination_and_congenital_cataract Hypomyelination and congenital cataract 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:hypophosphataemia_or_rickets Hypophosphataemia or rickets Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets Hypophosphatemic rickets Supplemental_disease_name DISEASE_NAME:hypophosphatemic_rickets_autosomal_recessive_2 Hypophosphatemic rickets, autosomal recessive, 2 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_punctate_palmoplantar_keratoderma_syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome 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_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_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:hypoproteinemia_hypercatabolic Hypoproteinemia, hypercatabolic Supplemental_disease_name DISEASE_NAME:hypospadias_1_x_linked Hypospadias 1, X-linked Supplemental_disease_name DISEASE_NAME:hypospadias_2_x_linked Hypospadias 2, X-linked 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:hypotension Hypotension 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_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: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_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_2 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Supplemental_disease_name DISEASE_NAME:hypotonic_infant Hypotonic infant Supplemental_disease_name DISEASE_NAME:hypotrichosis_16 Hypotrichosis 16 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: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: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_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_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_prematurity_syndrome Ichthyosis prematurity syndrome 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_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_growth_hormone_deficiency Idiopathic growth hormone deficiency Supplemental_disease_name DISEASE_NAME:idiopathic_hypereosinophilic_syndrome Idiopathic hypereosinophilic syndrome Supplemental_disease_name DISEASE_NAME:idiopathic_male_infertility Idiopathic male infertility 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_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:ier3ip1_related_disorder IER3IP1-related disorder Supplemental_disease_name DISEASE_NAME:ifap_syndrome_2 IFAP syndrome 2 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: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:ifngr1_related_disorder IFNGR1-related disorder Supplemental_disease_name DISEASE_NAME:ifngr2_related_disorder IFNGR2-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: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: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:igf1r_related_disorder IGF1R-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: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: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:il10ra_related_disorder IL10RA-related disorder Supplemental_disease_name DISEASE_NAME:il10rb_related_disorder IL10RB-related disorder Supplemental_disease_name DISEASE_NAME:il12b_related_disorder IL12B-related disorder Supplemental_disease_name DISEASE_NAME:il12rb2_related_disorder IL12RB2-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:il1rapl1_related_disorder IL1RAPL1-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: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: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: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_2 Imerslund-Grasbeck syndrome type 2 Supplemental_disease_name DISEASE_NAME:iminoglycinuria_digenic Iminoglycinuria, digenic 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_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_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_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_14b_autosomal_recessive Immunodeficiency 14b, autosomal recessive 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_33_male_restricted IMMUNODEFICIENCY 33, MALE-RESTRICTED 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_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_80_with_or_without_congenital_cardiomyopathy Immunodeficiency 80 with or without congenital cardiomyopathy 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_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_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_3 Immunodeficiency, common variable, 3 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_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_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_kappa_light_chain_deficiency Immunoglobulin kappa light chain deficiency 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:in_utero_death In utero death 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_glycerol_kinase_deficiency Inborn glycerol kinase deficiency Supplemental_disease_name DISEASE_NAME:inborn_mitochondrial_myopathy Inborn mitochondrial myopathy 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_3 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 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_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:increased_analgesia_from_kappa_opioid_receptor_agonist_female_specific Increased analgesia from kappa-opioid receptor agonist, female-specific 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_interleukin_6_concentration Increased circulating interleukin 6 concentration 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_nuchal_translucency Increased nuchal translucency 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_convulsions_and_choreoathetosis Infantile convulsions and choreoathetosis 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_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_3 Infantile liver failure syndrome 3 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_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_generalized_dyskinesia_with_orofacial_involvement Infantile-onset generalized dyskinesia with orofacial involvement 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: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:infiltrating_duct_carcinoma_of_breast Infiltrating duct carcinoma of breast 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_immunodeficiency_and_encephalopathy Inflammatory bowel disease, immunodeficiency, and encephalopathy 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: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_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_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_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: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_triphosphate_pyrophosphohydrolase_deficiency Inosine triphosphate pyrophosphohydrolase deficiency 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: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_like_growth_factor_1_resistance Insulin-like growth factor 1 resistance 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: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_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_autosomal_dominant_63_with_macrocephaly Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 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_68 Intellectual developmental disorder, autosomal dominant 68 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_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_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_78 Intellectual developmental disorder, autosomal recessive 78 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_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_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_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_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_disability_and_seizures Intellectual disability and seizures 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_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_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_16 Intellectual disability, autosomal dominant 16 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_29 Intellectual disability, autosomal dominant 29 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_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_39 Intellectual disability, autosomal dominant 39 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_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_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_6 Intellectual disability, autosomal dominant 6 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_dominant_9 Intellectual disability, autosomal dominant 9 Supplemental_disease_name DISEASE_NAME:intellectual_disability_autosomal_recessive_12 Intellectual disability, autosomal recessive 12 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_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_7 Intellectual disability, autosomal recessive 7 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_craniodigital_syndrome Intellectual disability-craniodigital syndrome Supplemental_disease_name DISEASE_NAME:intellectual_disability_epilepsy_extrapyramidal_syndrome Intellectual disability-epilepsy-extrapyramidal syndrome 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_fra12a_type Intellectual disability, FRA12A type 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_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_microcephaly_strabismus_behavioral_abnormalities_syndrome Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 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_obesity_brain_malformations_facial_dysmorphism_syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 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_short_stature_facial_anomalies_and_joint_dislocations Intellectual disability, short stature, facial anomalies, and joint dislocations 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_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_102 Intellectual disability, X-linked 102 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_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_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_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_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_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_syndromic_female_restricted Intellectual disability, X-linked 99, syndromic, female-restricted 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_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_panhypopituitarism Intellectual disability, X-linked, with panhypopituitarism 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: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_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_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_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: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_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:intracerebral_hemorrhage Intracerebral hemorrhage Supplemental_disease_name DISEASE_NAME:intracranial_hemorrhage Intracranial hemorrhage 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: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:intraventricular_hemorrhage Intraventricular hemorrhage 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: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: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: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: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:irido_corneo_trabecular_dysgenesis Irido-corneo-trabecular dysgenesis 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_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:ischemic_myocardium Ischemic myocardium 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: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_coronal_synostosis Isolated Coronal Synostosis Supplemental_disease_name DISEASE_NAME:isolated_focal_cortical_dysplasia_type_ii Isolated focal cortical dysplasia type II Supplemental_disease_name DISEASE_NAME:isolated_growth_hormone_deficiency_type_5 Isolated growth hormone deficiency, type 5 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_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_neonatal_sclerosing_cholangitis Isolated neonatal sclerosing cholangitis 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_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: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: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: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: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:jawad_syndrome Jawad syndrome 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_2 Jervell and Lange-Nielsen syndrome 2 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: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:joint_contractures_osteochondromas_and_b_cell_lymphoma Joint contractures, osteochondromas, and B-cell lymphoma Supplemental_disease_name DISEASE_NAME:joint_hypermobility Joint hypermobility Supplemental_disease_name DISEASE_NAME:joubert_orofaciodigital_syndrome Joubert-orofaciodigital syndrome 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_19 Joubert syndrome 19 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_35 Joubert syndrome 35 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_40 Joubert syndrome 40 Supplemental_disease_name DISEASE_NAME:joubert_syndrome_9_15_digenic Joubert syndrome 9/15, digenic Supplemental_disease_name DISEASE_NAME:joubert_syndrome_and_related_disorders Joubert syndrome and related disorders 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: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:junctional_epidermolysis_bullosa_gravis_of_herlitz Junctional epidermolysis bullosa gravis of Herlitz 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_arthritis_due_to_defect_in_lacc1 Juvenile arthritis due to defect in LACC1 Supplemental_disease_name DISEASE_NAME:juvenile_hyaline_fibromatosis Juvenile hyaline fibromatosis 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_onset_diabetes_mellitus_central_and_peripheral_neurodegeneration_syndrome Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Supplemental_disease_name DISEASE_NAME:juvenile_onset_psychosis Juvenile onset psychosis Supplemental_disease_name DISEASE_NAME:juvenile_polyposis Juvenile Polyposis 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_polyps Juvenile polyps Supplemental_disease_name DISEASE_NAME:juvenile_primary_lateral_sclerosis Juvenile primary lateral sclerosis 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: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_2 Kabuki syndrome 2 Supplemental_disease_name DISEASE_NAME:kabuki_syndrome_kdm6a Kabuki Syndrome - KDM6A 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: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: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: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: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: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:kcne2_related_disorder KCNE2-related disorder Supplemental_disease_name DISEASE_NAME:kcne3_related_disorder KCNE3-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: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: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: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: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: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:kcnq5_related_disorder KCNQ5-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: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_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: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:keloid_formation Keloid formation 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_ichthyosis_deafness_syndrome Keratitis-ichthyosis-deafness syndrome Supplemental_disease_name DISEASE_NAME:keratoconus_1 Keratoconus 1 Supplemental_disease_name DISEASE_NAME:keratoconus_5 Keratoconus 5 Supplemental_disease_name DISEASE_NAME:keratoderma_ichthyosis_deafness_syndrome_autosomal_recessive Keratoderma-ichthyosis-deafness syndrome, autosomal recessive 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_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_pilaris Keratosis pilaris 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: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:kiaa0586_related_disorder KIAA0586-related disorder Supplemental_disease_name DISEASE_NAME:kiaa0753_related_disorder KIAA0753-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_disorder Kidney disorder 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: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: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: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: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_trenaunay_like_syndrome Klippel-Trenaunay-like-Syndrome Supplemental_disease_name DISEASE_NAME:klk3_related_disorder KLK3-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_2 Knobloch syndrome 2 Supplemental_disease_name DISEASE_NAME:knuckle_pads_deafness_and_leukonychia_syndrome Knuckle pads, deafness AND leukonychia syndrome Supplemental_disease_name DISEASE_NAME:kohlschutter_tonz_syndrome_like Kohlschutter-Tonz syndrome-like 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: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:kras_related_disorder KRAS-related disorder Supplemental_disease_name DISEASE_NAME:kras_related_rasopathy KRAS-related RASopathy 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: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:kuru_protection_against Kuru, protection against Supplemental_disease_name DISEASE_NAME:kury_isidor_syndrome Kury-Isidor syndrome 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: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:lacrimo_auriculo_dento_digital_syndrome Lacrimo-auriculo-dento-digital syndrome 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: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: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: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: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:lamtor2_related_disorder LAMTOR2-related disorder 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: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_retardation Language retardation Supplemental_disease_name DISEASE_NAME:large_for_gestational_age Large for gestational age 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: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:laryngeal_cancer Laryngeal cancer Supplemental_disease_name DISEASE_NAME:laryngo_onycho_cutaneous_syndrome Laryngo-onycho-cutaneous syndrome 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: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: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: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:leber_congenital_amaurosis_18 Leber congenital amaurosis 18 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_susceptibility_to Leber optic atrophy, susceptibility to 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_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_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: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_due_to_mitochondrial_complex_i_deficiency Leigh syndrome due to mitochondrial complex I deficiency 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: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: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:leprosy_susceptibility_to_1 Leprosy, susceptibility to, 1 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:lesch_nyhan_syndrome_neurologic_variant Lesch-nyhan syndrome, neurologic variant 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:lethal_acantholytic_epidermolysis_bullosa Lethal acantholytic epidermolysis bullosa 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_congenital_contractural_syndrome_finnish_type Lethal congenital contractural syndrome Finnish type Supplemental_disease_name DISEASE_NAME:lethal_fetal_cerebrorenogenitourinary_agenesis_hypoplasia_syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Supplemental_disease_name DISEASE_NAME:lethal_kniest_like_syndrome Lethal Kniest-like syndrome Supplemental_disease_name DISEASE_NAME:lethal_multiple_pterygium_syndrome Lethal multiple pterygium syndrome 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: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: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_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_childhood_onset_remitting Leukodystrophy, childhood-onset, remitting 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_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: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_diffuse_hereditary_with_spheroids_1 Leukoencephalopathy, diffuse hereditary, with spheroids 1 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_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_without_lacunae_adult_onset Leukoencephalopathy without lacunae, adult-onset Supplemental_disease_name DISEASE_NAME:levothyroxine_response Levothyroxine response 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:lgr4_related_disorder LGR4-related disorder Supplemental_disease_name DISEASE_NAME:lhx1_related_disorder LHX1-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_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: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_2 Liddle syndrome 2 Supplemental_disease_name DISEASE_NAME:liddle_syndrome_3 Liddle syndrome 3 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_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: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:linear_porokeratosis Linear porokeratosis 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: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: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_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: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_glomerulopathy Lipoprotein glomerulopathy 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: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_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:lmo7_related_disorder LMO7-related disorder 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: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: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_olsen_distelmaier_syndrome Long-Olsen-Distelmaier syndrome 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_recessive Long QT syndrome 1, recessive 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_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_5_acquired_susceptibility_to Long QT syndrome 5, acquired, susceptibility to 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_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_drug_associated Long QT syndrome, drug-associated 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: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_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_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_renin_low_aldosterone_hypertension Low renin, low aldosterone hypertension Supplemental_disease_name DISEASE_NAME:lower_limb_muscle_weakness Lower limb muscle weakness Supplemental_disease_name DISEASE_NAME:lower_limb_spasticity Lower limb spasticity 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: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: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: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: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: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: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: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:luc7l_related_disorder LUC7L-related disorder Supplemental_disease_name DISEASE_NAME:lucey_driscoll_syndrome Lucey-Driscoll syndrome Supplemental_disease_name DISEASE_NAME:lui_jee_baron_syndrome Lui-Jee-Baron syndrome 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:lung_bronchoalveolar_carcinoma lung bronchoalveolar carcinoma Supplemental_disease_name DISEASE_NAME:lung_cancer_adenocarcinoma lung cancer adenocarcinoma Supplemental_disease_name DISEASE_NAME:lung_cancer_carcinoma Lung cancer/carcinoma 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_damage_immunodeficiency_and_chromosome_breakage_syndrome Lung damage, 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_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: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: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_6 Lymphatic malformation 6 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_diffuse_large_b_cell_somatic LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC Supplemental_disease_name DISEASE_NAME:lymphoma_non_hodgkin_familial Lymphoma, non-Hodgkin, familial 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_4 Lynch syndrome 4 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_5 Lynch syndrome 5 Supplemental_disease_name DISEASE_NAME:lynch_syndrome_8 Lynch syndrome 8 Supplemental_disease_name DISEASE_NAME:lyrm7_related_disorder LYRM7-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:lzts1_related_disorder LZTS1-related disorder 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_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_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_intellectual_disability_neurodevelopmental_disorder_small_thorax_syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 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_neurodevelopmental_delay_lymphoid_hyperplasia_and_persistent_fetal_hemoglobin Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 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: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_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_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_x_linked_atrophic Macular degeneration, X-linked atrophic Supplemental_disease_name DISEASE_NAME:macular_dystrophy Macular dystrophy 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_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_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_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_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: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_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_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_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_5 Malignant hyperthermia, susceptibility to, 5 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_esophagus Malignant tumor of esophagus Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_pancreas Malignant tumor of pancreas Supplemental_disease_name DISEASE_NAME:malignant_tumor_of_testis Malignant tumor of testis 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: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_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_b_lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy 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_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: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:marden_walker_syndrome Marden-Walker 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_incomplete Marfan syndrome, incomplete 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_mild MARFAN SYNDROME, MILD Supplemental_disease_name DISEASE_NAME:marfan_syndrome_mild_variable MARFAN SYNDROME, MILD VARIABLE 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: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_stickler_syndrome Marshall/Stickler syndrome Supplemental_disease_name DISEASE_NAME:martsolf_syndrome_1 Martsolf syndrome 1 Supplemental_disease_name DISEASE_NAME:martsolf_syndrome_2 Martsolf syndrome 2 Supplemental_disease_name DISEASE_NAME:marveld2_related_disorder MARVELD2-related disorder 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: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_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: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_type_12 Maturity-onset diabetes of the young, type 12 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_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: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: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:mccc1_related_disorder MCCC1-related disorder Supplemental_disease_name DISEASE_NAME:mccc2_related_disorder MCCC2-related disorder Supplemental_disease_name DISEASE_NAME:mcfd2_related_disorder MCFD2-related disorder Supplemental_disease_name DISEASE_NAME:mcidas_related_disorder MCIDAS-related disorder 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: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:meckel_gruber_like_syndrome Meckel-Gruber-like syndrome Supplemental_disease_name DISEASE_NAME:meckel_like_syndrome Meckel-like syndrome 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_3 Meckel syndrome, type 3 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_4 Meckel syndrome, type 4 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_5 Meckel syndrome, type 5 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_6 Meckel syndrome, type 6 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_8 Meckel syndrome, type 8 Supplemental_disease_name DISEASE_NAME:meckel_syndrome_type_9 Meckel syndrome, type 9 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_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:med17_related_disorder MED17-related disorder 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:medium_chain_acyl_coenzyme_a_dehydrogenase_deficiency Medium-chain acyl-coenzyme a dehydrogenase deficiency 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:mega_corpus_callosum_syndrome Mega-corpus-callosum syndrome Supplemental_disease_name DISEASE_NAME:megabladder_congenital Megabladder, congenital 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_intestinal_hypoperistalsis_syndrome_1 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 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_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: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_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_polydactyly_syndrome Megalencephaly-polydactyly syndrome 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:megf8_related_carpenter_syndrome MEGF8-related Carpenter syndrome Supplemental_disease_name DISEASE_NAME:megf8_related_disorder MEGF8-related disorder Supplemental_disease_name DISEASE_NAME:meiob_related_disorder MEIOB-related disorder Supplemental_disease_name DISEASE_NAME:meis2_related_disorder MEIS2-related disorder Supplemental_disease_name DISEASE_NAME:melanocytic_nevus_syndrome Melanocytic nevus syndrome 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_2 Melanoma, cutaneous malignant, susceptibility to, 2 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_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_9 Melanoma, cutaneous malignant, susceptibility to, 9 Supplemental_disease_name DISEASE_NAME:melanoma_pancreatic_cancer_syndrome Melanoma-pancreatic cancer 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_2 Melanoma, uveal, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:melioidosis_resistance_to Melioidosis, resistance to Supplemental_disease_name DISEASE_NAME:melorheostosis_with_osteopoikilosis Melorheostosis with osteopoikilosis 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: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_2 Menke-Hennekam syndrome 2 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:menstrual_cycle_dependent_periodic_fever Menstrual cycle-dependent periodic fever Supplemental_disease_name DISEASE_NAME:mental_disorder Mental 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:meretoja_syndrome Meretoja syndrome Supplemental_disease_name DISEASE_NAME:merosin_deficient_congenital_muscular_dystrophy Merosin deficient congenital muscular dystrophy 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:mesd_related_disorder MESD-related disorder 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:met_related_disorder MET-related disorder 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_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: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_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_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_without_hypotrichosis Metaphyseal dysplasia without hypotrichosis 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: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_cblg Methylcobalamin deficiency type cblG 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_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:mettl23_related_disorder METTL23-related disorder Supplemental_disease_name DISEASE_NAME:mettl5_related_disorder METTL5-related disorder Supplemental_disease_name DISEASE_NAME:mf5d8_related_disorder MF5D8-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:mfsd12_polymorphism MFSD12 POLYMORPHISM 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_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_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: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:microangiopathy_and_leukoencephalopathy_pontine_autosomal_dominant Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 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_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_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_27_primary_autosomal_dominant Microcephaly 27, primary, autosomal dominant 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_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_and_chorioretinopathy_with_or_without_intellectual_disability Microcephaly and chorioretinopathy with or without intellectual disability 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_congenital_cataract_psoriasiform_dermatitis_syndrome Microcephaly-congenital cataract-psoriasiform dermatitis syndrome 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_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_facial_dysmorphism_renal_agenesis_and_ambiguous_genitalia_syndrome Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 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_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_polymicrogyria_corpus_callosum_agenesis_syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome 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_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_polymicrogyria_with_seizures MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES 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_mclid Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) 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_with_liver_iron_overload Microcytic anemia with liver iron overload Supplemental_disease_name DISEASE_NAME:microform_holoprosencephaly Microform holoprosencephaly Supplemental_disease_name DISEASE_NAME:micrognathia Micrognathia 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:micromelia Micromelia Supplemental_disease_name DISEASE_NAME:micropenis Micropenis Supplemental_disease_name DISEASE_NAME:microphthalmia_and_cataract Microphthalmia and cataract Supplemental_disease_name DISEASE_NAME:microphthalmia_cataracts_and_iris_abnormalities Microphthalmia, cataracts, and iris abnormalities Supplemental_disease_name DISEASE_NAME:microphthalmia_coloboma_13 Microphthalmia/coloboma 13 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_10 Microphthalmia, isolated, with coloboma 10 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_3 Microphthalmia, isolated, with coloboma 3 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_5 Microphthalmia, isolated, with coloboma 5 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_6 Microphthalmia, isolated, with coloboma 6 Supplemental_disease_name DISEASE_NAME:microphthalmia_isolated_with_coloboma_7 Microphthalmia, isolated, with coloboma 7 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_syndromic Microphthalmia syndromic Supplemental_disease_name DISEASE_NAME:microphthalmia_syndromic_1 Microphthalmia, syndromic 1 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: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: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: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_2 Microvascular complications of diabetes, susceptibility to, 2 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: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_2 Migraine, familial hemiplegic, 2 Supplemental_disease_name DISEASE_NAME:migraine_familial_hemiplegic_3 Migraine, familial hemiplegic, 3 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_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: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_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_ndd Mild NDD Supplemental_disease_name DISEASE_NAME:mild_non_pku_hyperphenylalanemia Mild non-PKU hyperphenylalanemia 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: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:mirage_syndrome MIRAGE syndrome 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:mismatch_repair_cancer_syndrome_1 Mismatch repair cancer 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_3 Mismatch repair cancer syndrome 3 Supplemental_disease_name DISEASE_NAME:mismatch_repair_cancer_syndrome_4 Mismatch repair cancer syndrome 4 Supplemental_disease_name DISEASE_NAME:missed_abortion MISSED ABORTION Supplemental_disease_name DISEASE_NAME:mitf_related_disorder MITF-related disorder Supplemental_disease_name DISEASE_NAME:mitochondrial_cardiomyopathy_and_sudden_cardiac_failure mitochondrial cardiomyopathy and sudden cardiac failure 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_4 Mitochondrial complex 2 deficiency, nuclear type 4 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_mitochondrial_type_1 Mitochondrial complex I deficiency, mitochondrial type 1 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_19 Mitochondrial complex I deficiency, nuclear type 19 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_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_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_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_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_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_v_deficiency Mitochondrial complex V 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_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_12b_cardiomyopathic_type_autosomal_recessive Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 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_15_hepatocerebral_type Mitochondrial DNA depletion syndrome 15 (hepatocerebral 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_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_6_hepatocerebral_type Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 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_maintenance_disorder Mitochondrial DNA maintenance disorder Supplemental_disease_name DISEASE_NAME:mitochondrial_encephalopathy Mitochondrial 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_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_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_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_trifunctional_protein_deficiency_2_with_myopathy_and_neuropathy Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy 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_valve_prolapse_myxomatous_2 Mitral valve prolapse, myxomatous 2 Supplemental_disease_name DISEASE_NAME:mitral_valve_prolapse_myxomatous_3 Mitral valve prolapse, myxomatous 3 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: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: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: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_global_developmental_delay Moderate global developmental delay 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_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: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: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_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_2 Monosomy 7 myelodysplasia and leukemia syndrome 2 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: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: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_development_delay Motor development delay Supplemental_disease_name DISEASE_NAME:motor_tics Motor tics 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: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_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: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: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:mrap2_related_disorder MRAP2-related disorder Supplemental_disease_name DISEASE_NAME:mre11_related_disorder MRE11-related disorder 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: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: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: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:msto1_related_disorder MSTO1-related disorder Supplemental_disease_name DISEASE_NAME:msx1_related_disorder MSX1-related disorder 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:mtap_related_disorder MTAP-related disorder 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: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: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: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_c Mucopolysaccharidosis, MPS-III-C 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_plus_syndrome Mucopolysaccharidosis-plus syndrome Supplemental_disease_name DISEASE_NAME:mucopolysaccharidosis_type_10 Mucopolysaccharidosis, type 10 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:mulibrey_nanism_syndrome Mulibrey nanism 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_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: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: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_cancers Multiple cancers Supplemental_disease_name DISEASE_NAME:multiple_congenital_anomalies Multiple congenital anomalies 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_neurodevelopmental_syndrome_x_linked Multiple congenital anomalies-neurodevelopmental syndrome, X-linked Supplemental_disease_name DISEASE_NAME:multiple_endocrine_neoplasia_type_2 Multiple endocrine neoplasia, type 2 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_type_1 Multiple epiphyseal dysplasia type 1 Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_4 Multiple epiphyseal dysplasia type 4 Supplemental_disease_name DISEASE_NAME:multiple_epiphyseal_dysplasia_type_5 Multiple epiphyseal dysplasia type 5 Supplemental_disease_name DISEASE_NAME:multiple_fibroadenoma_of_the_breast Multiple fibroadenoma of the breast 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_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_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_predisposition Multiple Myeloma Predisposition Supplemental_disease_name DISEASE_NAME:multiple_myeloma_resistance_to Multiple myeloma, resistance to Supplemental_disease_name DISEASE_NAME:multiple_neoplasia Multiple neoplasia 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_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_self_healing_squamous_epithelioma Multiple self-healing squamous epithelioma Supplemental_disease_name DISEASE_NAME:multiple_sulfatase_deficiency Multiple sulfatase deficiency 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_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:mungan_syndrome Mungan syndrome Supplemental_disease_name DISEASE_NAME:muscle_amp_deaminase_deficiency Muscle AMP deaminase deficiency 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_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: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_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_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_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_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_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_4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 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_b3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 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_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_recessive_23 Muscular dystrophy, limb-girdle, autosomal recessive 23 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:musk_related_disorder MUSK-related disorder Supplemental_disease_name DISEASE_NAME:mutilating_keratoderma Mutilating keratoderma 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: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_22 Myasthenic syndrome, congenital, 22 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:myb_related_disorder MYB-related disorder 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_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:myelodysplasia Myelodysplasia 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_progressed_to_acute_myeloid_leukemia Myelodysplastic syndrome progressed to acute myeloid leukemia 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_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: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: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: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:mylk_related_disorder MYLK-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_ischemia_reperfusion_injury Myocardial ischemia/reperfusion injury 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_of_lafora_1 Myoclonic epilepsy of Lafora 1 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_intractable_neonatal Myoclonus, intractable, neonatal 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:myofibromatosis_infantile_1 Myofibromatosis, infantile, 1 Supplemental_disease_name DISEASE_NAME:myofibromatosis_infantile_2 Myofibromatosis, infantile, 2 Supplemental_disease_name DISEASE_NAME:myoglobinuria_acute_recurrent_autosomal_recessive Myoglobinuria, acute recurrent, autosomal recessive 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_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_centronuclear_2 Myopathy, centronuclear, 2 Supplemental_disease_name DISEASE_NAME:myopathy_centronuclear_5 Myopathy, centronuclear, 5 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_autosomal_dominant_modifier_of MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF 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_structured_cores_and_z_line_abnormalities Myopathy, congenital, with structured cores and z-line abnormalities Supplemental_disease_name DISEASE_NAME:myopathy_congenital_with_tremor Myopathy, congenital, with tremor 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_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_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_myofibrillar_12_infantile_onset_with_cardiomyopathy Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 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_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_early_onset_severe Myopathy, reducing body, X-linked, early-onset, severe 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_tubular_aggregate_1 Myopathy, tubular aggregate, 1 Supplemental_disease_name DISEASE_NAME:myopathy_tubular_aggregate_2 Myopathy, tubular aggregate, 2 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: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_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_high_with_cataract_and_vitreoretinal_degeneration Myopia, high, with cataract and vitreoretinal degeneration Supplemental_disease_name DISEASE_NAME:myorg_related_disorder MYORG-related disorder Supplemental_disease_name DISEASE_NAME:myosclerosis Myosclerosis 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_permanens Myotonia permanens Supplemental_disease_name DISEASE_NAME:myotonic_dystrophy Myotonic dystrophy 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: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: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_disorder Nail disorder Supplemental_disease_name DISEASE_NAME:nail_patella_like_renal_disease 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:nanophthalmos_1 Nanophthalmos 1 Supplemental_disease_name DISEASE_NAME:nanophthalmos_4 Nanophthalmos 4 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_7 Narcolepsy 7 Supplemental_disease_name DISEASE_NAME:narg2_related_intellectual_disability NARG2-related Intellectual disability 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: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: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: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: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:ndn_related_disorder NDN-related disorder 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: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: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_5 Nemaline myopathy 5 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_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_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_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_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_pseudo_hydrocephalic_progeroid_syndrome Neonatal pseudo-hydrocephalic progeroid syndrome 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:neoplasm_of_ovary Neoplasm of ovary Supplemental_disease_name DISEASE_NAME:neoplasm_of_stomach Neoplasm of stomach 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_skin Neoplasm of the skin 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_uric_acid_susceptibility_to Nephrolithiasis, uric acid, susceptibility to Supplemental_disease_name DISEASE_NAME:nephronophthisis_8 Nephronophthisis 8 Supplemental_disease_name DISEASE_NAME:nephronophthisis_like_nephropathy_2 Nephronophthisis-like nephropathy 2 Supplemental_disease_name DISEASE_NAME:nephropathic_cystinosis Nephropathic cystinosis Supplemental_disease_name DISEASE_NAME:nephrotic_range_proteinuria Nephrotic range proteinuria 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_iia_26 Nephrotic syndrome, IIa 26 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:neural_tube_defects_folate_sensitive Neural tube defects, folate-sensitive 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_susceptibility_to Neural tube defects, susceptibility to Supplemental_disease_name DISEASE_NAME:neurl4_related_disorder NEURL4-related disorder Supplemental_disease_name DISEASE_NAME:neuroblastoma_susceptibility_to_1 Neuroblastoma, susceptibility to, 1 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_3 Neuroblastoma, susceptibility to, 3 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:neurodegeneration Neurodegeneration 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_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_with_optic_atrophy_and_brain_abnormalities Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 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_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:neurodevelopmental_abnormality Neurodevelopmental abnormality 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_with_neutropenia Neurodevelopmental delay with neutropenia 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_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_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_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_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_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_and_cerebellar_hypoplasia Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 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_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_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_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_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_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_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_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_intracranial_hemorrhage_seizures_and_spasticity Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity 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_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_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_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_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_recessive Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 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_movement_or_behavioral_abnormalities Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 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_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_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_seizures_and_brain_abnormalities Neurodevelopmental disorder with seizures 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_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_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:neurofibrmatosis_type_1 Neurofibrmatosis type 1 Supplemental_disease_name DISEASE_NAME:neurofibromatosis_familial_spinal Neurofibromatosis, familial spinal Supplemental_disease_name DISEASE_NAME:neurofibromatosis_type_1 Neurofibromatosis, type 1 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_2 Neurofibromatosis, type 2 Supplemental_disease_name DISEASE_NAME:neurog3_related_disorder NEUROG3-related disorder Supplemental_disease_name DISEASE_NAME:neurogenic_scapuloperoneal_syndrome Neurogenic scapuloperoneal syndrome 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_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: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_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_congenital_with_uniform_type_1_fiber Neuromuscular disease, congenital, with uniform type 1 fiber 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_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_15 Neuronopathy, distal hereditary motor, autosomal dominant 15 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_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_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_5 Neuronopathy, distal hereditary motor, autosomal recessive 5 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_type_2a Neuronopathy, distal hereditary motor, type 2A 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_2c Neuronopathy, distal hereditary motor, type 2C 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_5b Neuronopathy, distal hereditary motor, type 5B 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_7a Neuronopathy, distal hereditary motor, type 7A 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_9 Neuronopathy, distal hereditary motor, type 9 Supplemental_disease_name DISEASE_NAME:neurooculorenal_syndrome Neurooculorenal syndrome 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_hereditary_motor_and_sensory_type_6a Neuropathy, hereditary motor and sensory, type 6A 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_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_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_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_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:neuropsychiatric_disorder Neuropsychiatric disorder 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_2_autosomal_dominant Neutropenia, severe congenital, 2, autosomal dominant 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_9_autosomal_dominant Neutropenia, severe congenital, 9, autosomal dominant 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: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: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: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: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_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_congenital_stationary_type1i Night blindness, congenital stationary, type1i Supplemental_disease_name DISEASE_NAME:nijmegen_breakage_syndrome_like_disorder Nijmegen breakage syndrome-like disorder 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:nipal3_related_disorder NIPAL3-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: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: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:nme7_related_disorder NME7-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_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_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_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_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_male_infertility_due_to_sperm_motility_disorder Non-syndromic male infertility due to sperm motility disorder 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:noncompaction_cardiomyopathy Noncompaction 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:nono_related_disorder NONO-related disorder 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_hearing_impairment Nonsyndromic hearing impairment 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_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_14 Noonan syndrome 14 Supplemental_disease_name DISEASE_NAME:noonan_syndrome_and_noonan_related_syndrome Noonan syndrome and Noonan-related syndrome 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: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:normokalemic_periodic_paralysis_potassium_sensitive Normokalemic periodic paralysis, potassium-sensitive 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: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: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: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: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: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: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: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: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:nrxn_related_disorder NRXN-related disorder Supplemental_disease_name DISEASE_NAME:nsd1_related_disorder NSD1-related disorder 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: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: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:nxn_related_disorder NXN-related disorder 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_6_congenital_x_linked Nystagmus 6, congenital, X-linked Supplemental_disease_name DISEASE_NAME:nystagmus_congenital_autosomal_recessive Nystagmus, congenital, autosomal recessive 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_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_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_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_mild_early_onset Obesity, mild, early-onset Supplemental_disease_name DISEASE_NAME:obesity_resistance_to OBESITY, RESISTANCE TO 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: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_pachygyria_and_polymicrogyria Occipital pachygyria and polymicrogyria Supplemental_disease_name DISEASE_NAME:occular_surface_disease Occular surface disease 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_type_i Ocular albinism, type I 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_cystinosis Ocular 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_1b Oculocutaneous albinism type 1B Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_4 Oculocutaneous albinism type 4 Supplemental_disease_name DISEASE_NAME:oculocutaneous_albinism_type_7 Oculocutaneous albinism type 7 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_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: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: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:oculopharyngodistal_myopathy_5 Oculopharyngodistal myopathy 5 Supplemental_disease_name DISEASE_NAME:oculotrichoanal_syndrome Oculotrichoanal 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: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: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_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: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:okt4_epitope_deficiency Okt4 epitope deficiency 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_cancer_predisposition_syndrome Oligodontia-cancer predisposition syndrome Supplemental_disease_name DISEASE_NAME:oligodontia_colorectal_cancer_syndrome Oligodontia-colorectal cancer syndrome 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_607463 OMIM:607463 Supplemental_disease_name DISEASE_NAME:onset_encephalopathy Onset encephalopathy 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_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: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: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: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:opsismodysplasia Opsismodysplasia Supplemental_disease_name DISEASE_NAME:opsoclonus_myoclonus_syndrome Opsoclonus-myoclonus syndrome 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_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_9_autosomal_recessive OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE 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_nerve_aplasia_bilateral Optic nerve aplasia, bilateral 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:opticusatrophia opticusatrophia Supplemental_disease_name DISEASE_NAME:optn_related_disorder OPTN-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_6_susceptibility_to Orofacial cleft 6, susceptibility to Supplemental_disease_name DISEASE_NAME:orofacial_digital_syndrome_iii Orofacial-digital syndrome III Supplemental_disease_name DISEASE_NAME:orofacial_digital_syndrome_iv Orofacial-digital syndrome IV 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_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_xv Orofaciodigital syndrome XV Supplemental_disease_name DISEASE_NAME:oroticaciduria Oroticaciduria 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_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:osteodysplastic_primordial_dwarfism_type_1 Osteodysplastic primordial dwarfism, type 1 Supplemental_disease_name DISEASE_NAME:osteofibrous_dysplasia Osteofibrous dysplasia Supplemental_disease_name DISEASE_NAME:osteogenesis_imperfecta_iia_22 Osteogenesis imperfecta, IIA 22 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_recessive Osteogenesis Imperfecta, Recessive 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_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_with_normal_sclerae_dominant_form Osteogenesis imperfecta with normal sclerae, dominant form 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:osteopetrosis_autosomal_dominant_3 Osteopetrosis, autosomal dominant 3 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_susceptibility_to Osteoporosis, susceptibility to Supplemental_disease_name DISEASE_NAME:osteoporosis_with_pseudoglioma Osteoporosis with pseudoglioma 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_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_ii Oto-palato-digital syndrome, type II 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_2 Otofaciocervical syndrome 2 Supplemental_disease_name DISEASE_NAME:otopalatodigital_syndrome Otopalatodigital syndrome Supplemental_disease_name DISEASE_NAME:otosclerosis_12 Otosclerosis 12 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: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_susceptibility_to_1 Ovarian cancer, susceptibility to, 1 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_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_mucinous_carcinoma Ovarian mucinous carcinoma 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_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: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:p2rx1_related_disorder P2RX1-related disorder Supplemental_disease_name DISEASE_NAME:p2rx7_related_disorder P2RX7-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: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_2 Pachyonychia congenita 2 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_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_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: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:palmoplantar_keratoderma_bothnian_type Palmoplantar keratoderma, Bothnian type 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_nonepidermolytic_focal_1 Palmoplantar keratoderma, nonepidermolytic, focal 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_keratodermas Palmoplantar keratodermas 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_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_3 Pancreatic cancer, susceptibility to, 3 Supplemental_disease_name DISEASE_NAME:pancreatic_cancer_susceptibility_to_4 Pancreatic cancer, susceptibility to, 4 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:pancreatitis_chronic_susceptibility_to Pancreatitis, chronic, susceptibility to 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: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_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: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: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: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_gland_adenoma Parathyroid gland adenoma 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_2 Parietal foramina 2 Supplemental_disease_name DISEASE_NAME:parietal_foramina_with_cleidocranial_dysplasia Parietal foramina with cleidocranial dysplasia Supplemental_disease_name DISEASE_NAME:paris_trousseau_thrombocytopenia Paris-Trousseau thrombocytopenia 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_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_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_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_mitochondrial Parkinson disease, mitochondrial Supplemental_disease_name DISEASE_NAME:parkinson_disease_resistance_to Parkinson disease, resistance to 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: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_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_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_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_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_hypoxanthine_guanine_phosphoribosyltransferase_deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Supplemental_disease_name DISEASE_NAME:partial_lipodystrophy_congenital_cataracts_and_neurodegeneration_syndrome Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Supplemental_disease_name DISEASE_NAME:pask_related_disorder PASK-related disorder Supplemental_disease_name DISEASE_NAME:patent_ductus_arteriosus_2 Patent ductus arteriosus 2 Supplemental_disease_name DISEASE_NAME:patent_ductus_arteriosus_3 Patent ductus arteriosus 3 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: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: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: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: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:pcsk5_related_disorder PCSK5-related disorder Supplemental_disease_name DISEASE_NAME:pcsk9_related_disorder PCSK9-related disorder 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: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: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: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_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_2b_and_ribavirin_response_toxicity peginterferon alfa-2b and ribavirin response - Toxicity 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: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_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: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: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_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: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_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_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_myopathy_hoarseness_hearing_loss_syndrome Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 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:peritoneal_gliomatosis Peritoneal Gliomatosis 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_and_epilepsy Periventricular nodular heterotopia and epilepsy 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_pancreatic_and_cerebellar_agenesis_syndrome Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 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_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:perp_related_disorder PERP-related disorder Supplemental_disease_name DISEASE_NAME:perrault_syndrome_1 Perrault syndrome 1 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_5 Perrault syndrome 5 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:pes_cavus Pes cavus 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_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:pgbd3_related_disorder PGBD3-related disorder Supplemental_disease_name DISEASE_NAME:pgk1_related_disorder PGK1-related disorder 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:phenprocoumon_response_dosage phenprocoumon response - Dosage Supplemental_disease_name DISEASE_NAME:phenprocoumon_response_toxicity phenprocoumon response - Toxicity 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_susceptibility_to Pheochromocytoma, susceptibility to 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:phf8_related_disorder PHF8-related disorder 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: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: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: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_of_the_brain Pick disease of the brain 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_progressive Piebaldism, progressive Supplemental_disease_name DISEASE_NAME:piebaldism_with_sensorineural_deafness Piebaldism with sensorineural deafness Supplemental_disease_name DISEASE_NAME:pierre_robin_like_syndrome Pierre Robin-like 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: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: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_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:pign_related_disorder PIGN-related disorder Supplemental_disease_name DISEASE_NAME:pigo_related_disorder PIGO-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: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_developmental_delay_neurological_abnormalities_syndrome Pili torti-developmental delay-neurological abnormalities syndrome 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: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:pituitary_adenoma_growth_hormone_secreting_2 Pituitary adenoma, growth hormone-secreting, 2 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_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_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: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:plag1_related_disorder PLAG1-related disorder Supplemental_disease_name DISEASE_NAME:plasma_factor_xi_deficiency Plasma factor XI deficiency Supplemental_disease_name DISEASE_NAME:plasminogen_deficiency Plasminogen deficiency 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: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: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: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:pml_related_disorder PML-related disorder Supplemental_disease_name DISEASE_NAME:pmm2_related_disorder PMM2-related disorder 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: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: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: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: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: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: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_9_susceptibility_to Polycystic kidney disease 9, susceptibility to 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_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_1 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 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_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_macrocephaly_syndrome Polydactyly-macrocephaly syndrome Supplemental_disease_name DISEASE_NAME:polydactyly_of_a_biphalangeal_thumb Polydactyly of a biphalangeal thumb Supplemental_disease_name DISEASE_NAME:polydactyly_postaxial_type_a1 Polydactyly, postaxial, type A1 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:polyendocrine_polyneuropathy_syndrome Polyendocrine-polyneuropathy syndrome 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:polyglucosanbody_myopathy_typ_1 Polyglucosanbody Myopathy Typ 1 Supplemental_disease_name DISEASE_NAME:polymerase_proofreading_related_adenomatous_polyposis Polymerase proofreading-related adenomatous polyposis Supplemental_disease_name DISEASE_NAME:polymicrogyria_bilateral_perisylvian_autosomal_recessive Polymicrogyria, bilateral perisylvian, autosomal recessive 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_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_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:polyps_multiple_and_recurrent_inflammatory_fibroid_gastrointestinal Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 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:pomc_related_disorder POMC-related disorder Supplemental_disease_name DISEASE_NAME:pomgnt1_related_disorder POMGNT1-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: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_iia_17 Pontocerebellar hypoplasia, IIA 17 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:pop1_related_disorder POP1-related disorder 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_7_multiple_types Porokeratosis 7, multiple types 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: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_2 Portal hypertension, noncirrhotic, 2 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_polydactyly_anterior_pituitary_anomalies_facial_dysmorphism_syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:postaxial_polydactyly_type_a1_b Postaxial polydactyly, type A1/B Supplemental_disease_name DISEASE_NAME:postaxial_polydactyly_type_b Postaxial polydactyly type B 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:pot1_related_disorder POT1-related disorder Supplemental_disease_name DISEASE_NAME:potassium_aggravated_myotonia Potassium-aggravated myotonia 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:pou6f2_related_disorder POU6F2-related disorder Supplemental_disease_name DISEASE_NAME:ppa2_related_disorder PPA2-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: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_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: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:pravastatin_response_efficacy pravastatin response - Efficacy Supplemental_disease_name DISEASE_NAME:pravastatin_response_toxicity pravastatin response - Toxicity 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:prdm6_related_disorder PRDM6-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: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_4 Preeclampsia/eclampsia 4 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_2 Pregnancy loss, recurrent, susceptibility to, 2 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:prelingual_sensorineural_hearing_impairment Prelingual sensorineural hearing impairment 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_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_13 Premature ovarian failure 13 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_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_20 Premature ovarian failure 20 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_21 Premature ovarian failure 21 Supplemental_disease_name DISEASE_NAME:premature_ovarian_failure_23 Premature ovarian failure 23 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_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_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_9 Premature ovarian failure 9 Supplemental_disease_name DISEASE_NAME:premature_ventricular_contraction Premature ventricular contraction 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:prex1_related_disorder PREX1-related disorder Supplemental_disease_name DISEASE_NAME:prex2_related_disorder PREX2-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_dnah5_related Primary Ciliary Dyskinesia (DNAH5-related) 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_dysautonomia Primary dysautonomia Supplemental_disease_name DISEASE_NAME:primary_erythromelalgia Primary erythromelalgia Supplemental_disease_name DISEASE_NAME:primary_familial_dilated_cardiomyopathy Primary familial dilated cardiomyopathy Supplemental_disease_name DISEASE_NAME:primary_familial_hypertrophic_cardiomyopathy Primary familial hypertrophic cardiomyopathy 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_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_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_type_2 Primary microcephaly type 2 Supplemental_disease_name DISEASE_NAME:primary_mitochondrial_disorders Primary Mitochondrial Disorders Supplemental_disease_name DISEASE_NAME:primary_ovarian_failure_8 PRIMARY OVARIAN FAILURE 8 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: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_hearing_impairment Profound hearing impairment Supplemental_disease_name DISEASE_NAME:profound_intellectual_disability Profound intellectual disability Supplemental_disease_name DISEASE_NAME:progeroid_and_marfanoid_aspect_lipodystrophy_syndrome Progeroid and marfanoid aspect-lipodystrophy 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_bulbar_palsy_of_childhood Progressive bulbar palsy of childhood 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_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_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_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_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_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_5 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 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_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_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_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_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_familial_heart_block_type_1a Progressive familial heart block, type 1A 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_2 Progressive familial 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_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_muscle_weakness Progressive muscle weakness 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_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_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_scapulohumeroperoneal_distal_myopathy Progressive scapulohumeroperoneal distal myopathy 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_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:proline_dehydrogenase_deficiency Proline dehydrogenase deficiency 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:prom1_related_disorder PROM1-related disorder 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: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_brain_cancer_susceptibility Prostate cancer/brain cancer susceptibility Supplemental_disease_name DISEASE_NAME:prostate_cancer_carcinoma_adenocarcinoma Prostate cancer/carcinoma/adenocarcinoma 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_2 Prostate cancer, hereditary, 2 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_somatic Prostate cancer, somatic Supplemental_disease_name DISEASE_NAME:prostate_cancer_susceptibility Prostate cancer susceptibility 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_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: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_muscle_weakness Proximal 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: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:prss1_related_disorder PRSS1-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: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:pseudo_fractures Pseudo-fractures 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:pseudoachondroplasia_severe Pseudoachondroplasia, severe Supplemental_disease_name DISEASE_NAME:pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 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:pseudohyperkalemia Pseudohyperkalemia 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_2d Pseudohypoaldosteronism type 2D Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_2e Pseudohypoaldosteronism type 2E Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib1_autosomal_recessive Pseudohypoaldosteronism, type IB1, autosomal recessive Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib2_autosomal_recessive Pseudohypoaldosteronism, type IB2, autosomal recessive Supplemental_disease_name DISEASE_NAME:pseudohypoaldosteronism_type_ib3_autosomal_recessive Pseudohypoaldosteronism, type IB3, autosomal recessive Supplemental_disease_name DISEASE_NAME:pseudohypoparathyroidism_type_i_a Pseudohypoparathyroidism type I A 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: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_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: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_2_pustular PSORIASIS 2, PUSTULAR Supplemental_disease_name DISEASE_NAME:psoriatic_arthritis_susceptibility_to Psoriatic arthritis, susceptibility to 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_epilepsy_and_craniofacial_dysmorphism Psychomotor retardation, epilepsy, and craniofacial dysmorphism 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_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: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_hereditary_congenital_1 Ptosis, hereditary congenital, 1 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: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_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_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_9 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 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_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_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_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_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_primary_1 Pulmonary hypertension, primary, 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_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:pulmonic_stenosis Pulmonic stenosis 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_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_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_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_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: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:pyroxd1_related_disorder PYROXD1-related disorder Supplemental_disease_name DISEASE_NAME:pyruvate_carboxylase_deficiency Pyruvate carboxylase deficiency 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_hyperactivity Pyruvate kinase hyperactivity 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:qrsl1_related_disorder QRSL1-related disorder 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: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_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:rabl3_related_disorder RABL3-related disorder Supplemental_disease_name DISEASE_NAME:rabson_mendenhall_syndrome Rabson-Mendenhall syndrome 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: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_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_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: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: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_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_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: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: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: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_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: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_fever Recurrent fever 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_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_spontaneous_abortion Recurrent spontaneous abortion Supplemental_disease_name DISEASE_NAME:recurrent_subcortical_infarcts Recurrent subcortical infarcts 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_von_willebrand_factor_activity Reduced von Willebrand factor activity 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: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: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:rel_related_disorder REL-related disorder Supplemental_disease_name DISEASE_NAME:rela_related_disorder RELA-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:renal_agenesis_and_hypodysplasia Renal agenesis and hypodysplasia 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_cortical_hyperechogenicity Renal cortical hyperechogenicity 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_cystic_susceptibility_to Renal dysplasia, cystic, susceptibility to Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_1 Renal-hepatic-pancreatic dysplasia 1 Supplemental_disease_name DISEASE_NAME:renal_hepatic_pancreatic_dysplasia_2 Renal-hepatic-pancreatic dysplasia 2 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_3 Renal hypodysplasia/aplasia 3 Supplemental_disease_name DISEASE_NAME:renal_hypodysplasia_aplasia_4 Renal hypodysplasia/aplasia 4 Supplemental_disease_name DISEASE_NAME:renal_hypoplasia_aplasia Renal hypoplasia/aplasia 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_with_normal_red_cell_morphology Renal tubular acidosis, distal, with normal red cell morphology 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_dysgenesis Renal tubular dysgenesis Supplemental_disease_name DISEASE_NAME:renal_tubular_dysgenesis_of_genetic_origin Renal tubular dysgenesis of genetic origin 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: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_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: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:ret_related_disorder RET-related disorder 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_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_disorder Retinal disorder 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_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_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_macular_dystrophy_type_2 Retinal macular dystrophy type 2 Supplemental_disease_name DISEASE_NAME:retinal_vascular_dystrophy Retinal vascular dystrophy Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_108 RETINITIS PIGMENTOSA 108 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_4_autosomal_recessive Retinitis pigmentosa 4, autosomal recessive Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_53 Retinitis pigmentosa 53 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_64 Retinitis pigmentosa 64 Supplemental_disease_name DISEASE_NAME:retinitis_pigmentosa_7_digenic Retinitis pigmentosa 7, digenic 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_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_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_recessive Retinitis Pigmentosa, Recessive 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_punctata_albescens_autosomal_dominant Retinitis punctata albescens, autosomal dominant Supplemental_disease_name DISEASE_NAME:retreg1_related_disorder RETREG1-related disorder 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:reynolds_syndrome Reynolds syndrome 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: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:rh_e_e_polymorphism RH E/e POLYMORPHISM 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:rhabdomyolysis Rhabdomyolysis 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_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:rheb_related_disorder RHEB-related disorder Supplemental_disease_name DISEASE_NAME:rhex_related_disorder RHEX-related disorder 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: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: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: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: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: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: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_3 Ritscher-Schinzel syndrome 3 Supplemental_disease_name DISEASE_NAME:ritscher_schinzel_syndrome_4 Ritscher-Schinzel syndrome 4 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: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:rnf113a_related_disorder RNF113A-related disorder Supplemental_disease_name DISEASE_NAME:rnf125_related_disorder RNF125-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: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:rnu4atac_related_disorder RNU4ATAC-related disorder Supplemental_disease_name DISEASE_NAME:rnu4atac_spectrum_disorder RNU4ATAC spectrum disorder Supplemental_disease_name DISEASE_NAME:robinow_sorauf_syndrome Robinow-Sorauf 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_sensorineural_deafness_and_fanconi_type_renal_dysfunction Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 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: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: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_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_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: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: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: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:rpl35_related_disorder RPL35-related disorder Supplemental_disease_name DISEASE_NAME:rpl35a_related_disorder RPL35A-related disorder Supplemental_disease_name DISEASE_NAME:rpl5_related_disorder RPL5-related disorder 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:rps15_related_disorder RPS15-related disorder 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: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_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: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: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_crebbp_mutations Rubinstein-Taybi syndrome due to CREBBP mutations Supplemental_disease_name DISEASE_NAME:rubinstein_taybi_syndrome_due_to_ep300_haploinsufficiency Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 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: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: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:sacs_related_disorder SACS-related disorder 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: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: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: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_2 Sarcoidosis, susceptibility to, 2 Supplemental_disease_name DISEASE_NAME:sarcosine_dehydrogenase_deficiency Sarcosine dehydrogenase deficiency 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: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: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:schizencephaly Schizencephaly Supplemental_disease_name DISEASE_NAME:schizoaffective_depressive_disorder Schizoaffective depressive disorder Supplemental_disease_name DISEASE_NAME:schizophrenia_17 Schizophrenia 17 Supplemental_disease_name DISEASE_NAME:schizophrenia_susceptibility_to Schizophrenia, susceptibility to 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:schwartz_jampel_syndrome Schwartz-Jampel syndrome Supplemental_disease_name DISEASE_NAME:schöpf_schulz_passarge_syndrome Schöpf-Schulz-Passarge syndrome 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: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_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_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: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: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: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: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: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:seizures Seizures Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_2 Seizures, benign familial infantile, 2 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_3 Seizures, benign familial infantile, 3 Supplemental_disease_name DISEASE_NAME:seizures_benign_familial_infantile_5 Seizures, benign familial infantile, 5 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_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:selenbp1_related_disorder SELENBP1-related disorder 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: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: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: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_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: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:sephs1_related_developmental_delay SEPHS1-related developmental delay Supplemental_disease_name DISEASE_NAME:sephs1_related_disorder SEPHS1-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: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: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:serpina1_related_disorder SERPINA1-related disorder Supplemental_disease_name DISEASE_NAME:serpina3_related_disorder SERPINA3-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: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_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_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_ikk2_deficiency Severe combined immunodeficiency due to IKK2 deficiency 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_dermatitis_multiple_allergies_metabolic_wasting_syndrome Severe dermatitis-multiple allergies-metabolic wasting syndrome Supplemental_disease_name DISEASE_NAME:severe_early_childhood_onset_retinal_dystrophy Severe early-childhood-onset retinal dystrophy 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_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_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_hemophilia_a Severe hemophilia A Supplemental_disease_name DISEASE_NAME:severe_hydrocephalus Severe hydrocephalus 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_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_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_short_stature_behavioral_abnormalities_facial_dysmorphism_syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Supplemental_disease_name DISEASE_NAME:severe_lactic_acidosis Severe lactic acidosis 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_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_neurodegenerative_syndrome_with_lipodystrophy Severe neurodegenerative syndrome with lipodystrophy 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_postnatal_growth_retardation Severe postnatal growth retardation 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_short_limb_dwarfism Severe short-limb dwarfism 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_myotubular_myopathy Severe X-linked myotubular myopathy 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:sftpc_related_disorder SFTPC-related disorder Supplemental_disease_name DISEASE_NAME:sfxn4_related_disorder SFXN4-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: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: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_nose Short nose 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_2 Short QT syndrome type 2 Supplemental_disease_name DISEASE_NAME:short_qt_syndrome_type_3 Short QT syndrome type 3 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_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_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_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_21_without_polydactyly Short-rib thoracic dysplasia 21 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_7_20_with_polydactyly_digenic Short-rib thoracic dysplasia 7/20 with polydactyly, digenic 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_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_stature Short stature 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_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_microcephaly_with_genital_anomalies Short stature and microcephaly with genital anomalies 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_dauber_argente_type Short stature, Dauber-Argente type 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_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_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_and_endocrine_dysfunction Short stature, microcephaly, and endocrine dysfunction 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_rhizomelic_with_microcephaly_micrognathia_and_developmental_delay Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 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:shoulder_girdle_muscle_weakness Shoulder 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: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_2 Shwachman-Diamond syndrome 2 Supplemental_disease_name DISEASE_NAME:si_related_disorder SI-related disorder 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: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:sick_sinus_syndrome_1 Sick sinus syndrome 1 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_3_susceptibility_to Sick sinus syndrome 3, susceptibility to 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: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_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: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: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_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: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: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_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_myopathy Skeletal myopathy 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: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_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_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_5_black_nonblack_hair SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR 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_2 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Supplemental_disease_name DISEASE_NAME:skin_hair_eye_pigmentation_variation_in_8 Skin/hair/eye pigmentation, variation in, 8 Supplemental_disease_name DISEASE_NAME:skraban_deardorff_syndrome Skraban-Deardorff syndrome Supplemental_disease_name DISEASE_NAME:slc10a2_related_disorder SLC10A2-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:slc16a1_related_disorder SLC16A1-related disorder Supplemental_disease_name DISEASE_NAME:slc16a2_related_disorder SLC16A2-related disorder Supplemental_disease_name DISEASE_NAME:slc17a5_related_disorder SLC17A5-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:slc22a18_related_disorder SLC22A18-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: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: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:slc25a22_related_disorder SLC25A22-related disorder Supplemental_disease_name DISEASE_NAME:slc25a24_related_disorder SLC25A24-related disorder Supplemental_disease_name DISEASE_NAME:slc25a32_related_disorder SLC25A32-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: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: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: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: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: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:slc35b1_related_disorder SLC35B1-related disorder Supplemental_disease_name DISEASE_NAME:slc35c1_related_disorder SLC35C1-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: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: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:slc51b_related_disorder SLC51B-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:slc6a14_related_disorder SLC6A14-related disorder Supplemental_disease_name DISEASE_NAME:slc6a17_related_disorder SLC6A17-related disorder 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: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: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: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: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_cell_carcinoma_of_the_ovary_hypercalcemic_type Small cell carcinoma of the ovary, hypercalcemic type 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_for_gestational_age Small for gestational age 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: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_like Smith-Magenis Syndrome-like 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:smoking_as_a_quantitative_trait_locus_3 SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 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: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: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: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:snta1_related_disorder SNTA1-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: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: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: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: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: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: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:sparc_related_disorder SPARC-related disorder Supplemental_disease_name DISEASE_NAME:sparcl1_related_disorder SPARCL1-related 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_11_autosomal_dominant Spastic ataxia 11, autosomal dominant Supplemental_disease_name DISEASE_NAME:spastic_ataxia_9_autosomal_recessive Spastic ataxia 9, autosomal recessive 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_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_30b_autosomal_recessive Spastic paraplegia 30B, autosomal recessive 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_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_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_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_intellectual_disability_nystagmus_and_obesity Spastic paraplegia, intellectual disability, nystagmus, and obesity 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_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_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: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_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: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_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:spermatocyte_maturation_arrest Spermatocyte maturation arrest Supplemental_disease_name DISEASE_NAME:spermatogenesis_maturation_arrest Spermatogenesis maturation arrest Supplemental_disease_name DISEASE_NAME:spermatogenic_failure_x_linked_2 Spermatogenic failure, X-linked, 2 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:sphingomyelin_cholesterol_lipidosis Sphingomyelin/cholesterol lipidosis 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: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_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_progressive_myoclonic_epilepsy_syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 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_neurofibroma Spinal neurofibroma Supplemental_disease_name DISEASE_NAME:spink1_related_disorder SPINK1-related disorder 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_43 Spinocerebellar ataxia 43 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_47 Spinocerebellar ataxia 47 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_48 Spinocerebellar ataxia 48 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_49 Spinocerebellar ataxia 49 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_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_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_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_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_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_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_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_42 Spinocerebellar ataxia type 42 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_5 Spinocerebellar ataxia type 5 Supplemental_disease_name DISEASE_NAME:spinocerebellar_ataxia_type_6 Spinocerebellar ataxia type 6 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: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:spn_related_disorder SPN-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:spondylocostal_dysostosis_1_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_7_autosomal_recessive Spondylocostal dysostosis 7, autosomal recessive Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_aggrecan_type Spondyloepimetaphyseal dysplasia, aggrecan type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_bieganski_type Spondyloepimetaphyseal dysplasia, Bieganski type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_di_rocco_type Spondyloepimetaphyseal dysplasia, di rocco type Supplemental_disease_name DISEASE_NAME:spondyloepimetaphyseal_dysplasia_guo_campeau_type Spondyloepimetaphyseal dysplasia, Guo-Campeau type 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_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_with_joint_laxity_type_1_with_fractures Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures 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_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_tarda_x_linked Spondyloepiphyseal dysplasia tarda, X-linked Supplemental_disease_name DISEASE_NAME:spondyloepiphyseal_dysplasia_with_metatarsal_shortening Spondyloepiphyseal dysplasia with metatarsal shortening Supplemental_disease_name DISEASE_NAME:spondylometaphyseal_dysplasia_pagnamenta_type Spondylometaphyseal dysplasia, pagnamenta type 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:spr_related_disorder SPR-related disorder Supplemental_disease_name DISEASE_NAME:spred1_related_disorder SPRED1-related disorder 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: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_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: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:srrm2_related_disorder SRRM2-related disorder Supplemental_disease_name DISEASE_NAME:srrm2_related_neurodevelopmental_disorder SRRM2-related Neurodevelopmental disorder 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: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: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_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_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: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: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:steel_syndrome Steel syndrome Supplemental_disease_name DISEASE_NAME:steinert_myotonic_dystrophy_syndrome Steinert myotonic dystrophy syndrome Supplemental_disease_name DISEASE_NAME:steroid_resistant_nephrotic_syndrome Steroid-resistant nephrotic syndrome 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_4 Stickler syndrome, type 4 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_5 Stickler syndrome, type 5 Supplemental_disease_name DISEASE_NAME:stickler_syndrome_type_i_nonsyndromic_ocular Stickler syndrome, type I, nonsyndromic ocular 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:stn1_related_disorder STN1-related disorder Supplemental_disease_name DISEASE_NAME:storage_pool_disease_of_platelets Storage pool disease of platelets 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_susceptibility_to Strabismus, susceptibility to Supplemental_disease_name DISEASE_NAME:strada_related_disorder STRADA-related disorder 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:striatonigral_degeneration_childhood_onset Striatonigral degeneration, childhood-onset Supplemental_disease_name DISEASE_NAME:stroke_disorder Stroke disorder 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_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_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: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_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_infantile Sudden cardiac failure, infantile 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_unexplained_death Sudden unexplained death 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: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:sun5_related_disorder SUN5-related disorder Supplemental_disease_name DISEASE_NAME:suox_related_disorder SUOX-related disorder 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:supraventricular_tachycardia Supraventricular tachycardia Supplemental_disease_name DISEASE_NAME:supt16h_related_disorder SUPT16H-related disorder 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_mononeuropathy_of_the_median_nerve_mild Susceptibility to mononeuropathy of the median nerve, mild 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: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: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: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:syn3_related_disorder SYN3-related disorder Supplemental_disease_name DISEASE_NAME:sync_related_disorder SYNC-related disorder Supplemental_disease_name DISEASE_NAME:syncope Syncope 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: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_infantile_encephalopathy Syndromic Infantile Encephalopathy Supplemental_disease_name DISEASE_NAME:syndromic_inherited_retinal_disease Syndromic inherited retinal disease 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: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: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_association_with_susceptibility_to_10 SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10 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_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: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_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_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: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: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: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_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: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: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: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: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:tbx15_related_disorder TBX15-related disorder Supplemental_disease_name DISEASE_NAME:tbx18_related_disorder TBX18-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:tbx5_related_disorder TBX5-related disorder Supplemental_disease_name DISEASE_NAME:tbxa2r_related_disorder TBXA2R-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_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:tcof1_related_disorder TCOF1-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: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: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:telecanthus Telecanthus 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: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:teratoid_tumor_atypical Teratoid tumor, atypical 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: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_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: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_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_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: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:thiopurine_response Thiopurine response 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: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_2 Thrombocythemia 2 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_13_syndromic Thrombocytopenia 13, syndromic 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_anemia_and_myelofibrosis Thrombocytopenia, anemia, and myelofibrosis 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_without_dyserythropoietic_anemia Thrombocytopenia, X-linked, without dyserythropoietic anemia Supplemental_disease_name DISEASE_NAME:thromboembolism Thromboembolism 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_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_recessive Thrombophilia due to protein C deficiency, autosomal recessive 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_recessive Thrombophilia due to protein S deficiency, autosomal recessive 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_9_defect Thrombophilia, X-linked, due to factor 9 defect Supplemental_disease_name DISEASE_NAME:thrombotic_microangiopathy Thrombotic microangiopathy Supplemental_disease_name DISEASE_NAME:thrombotic_stroke Thrombotic stroke 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_2 Thyroid cancer, nonmedullary, 2 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_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_resistance_generalized_autosomal_dominant Thyroid hormone resistance, generalized, autosomal dominant Supplemental_disease_name DISEASE_NAME:thyroid_hormone_resistance_generalized_autosomal_recessive Thyroid hormone resistance, generalized, autosomal recessive 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_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_pseudarthrosis Tibial pseudarthrosis 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: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_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: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_related_disorder TKFC-related disorder Supplemental_disease_name DISEASE_NAME:tkt_related_disorder TKT-related disorder 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: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:tm2d3_related_disorder TM2D3-related disorder Supplemental_disease_name DISEASE_NAME:tm9sf4_related_disorder TM9SF4-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:tmem106b_related_disorder TMEM106B-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:tmem222_related_disorder TMEM222-related disorder Supplemental_disease_name DISEASE_NAME:tmem230_related_disorder TMEM230-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:tmem38b_related_disorder TMEM38B-related disorder Supplemental_disease_name DISEASE_NAME:tmem43_related_disorder TMEM43-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_neurodevelopmental_disorder TMEM63B-related Neurodevelopmental 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: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:tmprss6_related_disorder TMPRSS6-related 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_binding_altered TNF receptor binding, altered Supplemental_disease_name DISEASE_NAME:tnfaip3_related_disorder TNFAIP3-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf11a_related_disorder TNFRSF11A-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf13b_related_disorder TNFRSF13B-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf1a_related_disorder TNFRSF1A-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf21_related_disorder TNFRSF21-related disorder Supplemental_disease_name DISEASE_NAME:tnfrsf9_related_disorder TNFRSF9-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: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: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: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_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_7 Tooth agenesis, selective, 7 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: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: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: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: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_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_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: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_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:trap1_related_disorder TRAP1-related disorder 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:tremor Tremor 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_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: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: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:trichothiodystrophy_1_photosensitive Trichothiodystrophy 1, photosensitive Supplemental_disease_name DISEASE_NAME:trichothiodystrophy_2_photosensitive Trichothiodystrophy 2, photosensitive 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_9_nonphotosensitive Trichothiodystrophy 9, nonphotosensitive 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_1 Trigonocephaly 1 Supplemental_disease_name DISEASE_NAME:trigonocephaly_2 Trigonocephaly 2 Supplemental_disease_name DISEASE_NAME:trigonocephaly_short_stature_developmental_delay_syndrome Trigonocephaly-short stature-developmental delay syndrome 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: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: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: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:trpa1_related_disorder TRPA1-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: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:tspan12_related_disorder TSPAN12-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:ttc21b_related_disorder TTC21B-related disorder Supplemental_disease_name DISEASE_NAME:ttc28_related_disorder TTC28-related disorder 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: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:tuberous_sclerosis_and_lymphangiomyomatosis Tuberous sclerosis and 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: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_3 Tumor predisposition syndrome 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_3 Tumoral calcinosis, hyperphosphatemic, familial, 3 Supplemental_disease_name DISEASE_NAME:turcot_syndrome_with_polyposis Turcot syndrome with polyposis Supplemental_disease_name DISEASE_NAME:turnpenny_fry_syndrome Turnpenny-fry syndrome 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_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: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_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_a2_brachydactyly Type A2 brachydactyly Supplemental_disease_name DISEASE_NAME:type_i_truncus_arteriosus Type I truncus arteriosus 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:tyrosine_hydroxylase_deficiency Tyrosine hydroxylase deficiency Supplemental_disease_name DISEASE_NAME:tyrosine_kinase_inhibitor_response Tyrosine kinase inhibitor response Supplemental_disease_name DISEASE_NAME:u2af1_related_disorder U2AF1-related disorder 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:ubash3a_related_disorder UBASH3A-related disorder Supplemental_disease_name DISEASE_NAME:ube2a_related_disorder UBE2A-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:udpglucose_4_epimerase_deficiency UDPglucose-4-epimerase deficiency 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: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:ulnar_deviation_of_the_wrist Ulnar deviation of the wrist 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: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: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: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: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: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_2 Uric acid concentration, serum, quantitative trait locus 2 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: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:uros_related_disorder UROS-related disorder Supplemental_disease_name DISEASE_NAME:ush1c_related_disorder USH1C-related disorder Supplemental_disease_name DISEASE_NAME:ush2a_related_disorder USH2A-related disorder Supplemental_disease_name DISEASE_NAME:usher_syndrome_type_1m Usher syndrome, type 1M 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: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_recessive Usmani-Riazuddin syndrome, autosomal recessive 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: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:uterus_adenocarcinoma Uterus adenocarcinoma 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_3 UV-sensitive syndrome 3 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_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_2 Van der Woude 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:vapb_related_disorder VAPB-related 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: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_dilatation Vascular dilatation 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_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: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: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: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: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_fibrillation Ventricular fibrillation Supplemental_disease_name DISEASE_NAME:ventricular_fibrillation_paroxysmal_familial_type_1 Ventricular fibrillation, paroxysmal familial, type 1 Supplemental_disease_name DISEASE_NAME:ventricular_septal_defect_1 Ventricular septal defect 1 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_tachycardia Ventricular tachycardia Supplemental_disease_name DISEASE_NAME:ventricular_tachycardia_somatic Ventricular tachycardia, somatic Supplemental_disease_name DISEASE_NAME:ventriculomegaly Ventriculomegaly Supplemental_disease_name DISEASE_NAME:ventriculomegaly_and_arthrogryposis Ventriculomegaly and arthrogryposis 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_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: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:vestibular_schwannomas Vestibular schwannomas Supplemental_disease_name DISEASE_NAME:vexas VEXAS 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_myopathy_1 Visceral myopathy 1 Supplemental_disease_name DISEASE_NAME:visceral_myopathy_2 Visceral myopathy 2 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_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: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_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_2 Vitelliform macular dystrophy 2 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_3 Vitelliform macular dystrophy 3 Supplemental_disease_name DISEASE_NAME:vitelliform_macular_dystrophy_4 Vitelliform macular dystrophy 4 Supplemental_disease_name DISEASE_NAME:vitiligo_associated_multiple_autoimmune_disease_susceptibility_1 Vitiligo-associated multiple autoimmune disease susceptibility 1 Supplemental_disease_name DISEASE_NAME:vitreoretinochoroidopathy Vitreoretinochoroidopathy Supplemental_disease_name DISEASE_NAME:vitreoretinopathy Vitreoretinopathy 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:von_hippel_lindau_syndrome_modifier_of VON HIPPEL-LINDAU SYNDROME, MODIFIER OF Supplemental_disease_name DISEASE_NAME:von_willebrand_disease_type_2a Von Willebrand disease type 2A 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_factor_vicenza von Willebrand factor Vicenza 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: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: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: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: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_type_2 Waardenburg syndrome type 2 Supplemental_disease_name DISEASE_NAME:waardenburg_syndrome_type_2d Waardenburg syndrome type 2D 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:wac_related_disorder WAC-related disorder Supplemental_disease_name DISEASE_NAME:wac_related_neurodevelopmental_disorder WAC-related neurodevelopmental disorder Supplemental_disease_name DISEASE_NAME:wagner_disease Wagner disease 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:wapl_related_disorder WAPL-related disorder Supplemental_disease_name DISEASE_NAME:warburg_cinotti_syndrome Warburg-Cinotti syndrome 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: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: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:weiss_kruszka_syndrome Weiss-Kruszka syndrome Supplemental_disease_name DISEASE_NAME:welander_distal_myopathy Welander distal myopathy Supplemental_disease_name DISEASE_NAME:west_nile_virus_susceptibility_to West Nile virus, susceptibility to 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_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: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_spectrum Wieacker-Wolff syndrome (spectrum) 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:williams_syndrome Williams syndrome Supplemental_disease_name DISEASE_NAME:wilms_tumor_1 Wilms tumor 1 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_7 Wilms tumor 7 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: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: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: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:wnt4_related_disorder WNT4-related disorder Supplemental_disease_name DISEASE_NAME:wnt5a_related_disorder WNT5A-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_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: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: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:wrn_related_disorder WRN-related disorder Supplemental_disease_name DISEASE_NAME:wrnip1_related_disorder WRNIP1-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:wwox_related_diosrder WWOX-related diosrder Supplemental_disease_name DISEASE_NAME:wwox_related_disorder WWOX-related disorder 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_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_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_cone_rod_dystrophy X-linked cone-rod dystrophy 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_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_dyserythropoietic_anemia_and_thrombocytopenia X-linked dyserythropoietic anemia and thrombocytopenia 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_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_ichthyosis_with_steryl_sulfatase_deficiency X-linked ichthyosis with steryl-sulfatase deficiency 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_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_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_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_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_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_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_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_phka2_related_disorders X-linked PHKA2-related disorders 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_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_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_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: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_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: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:xk_related_disorder XK-related disorder Supplemental_disease_name DISEASE_NAME:xk_related_neurodegenerative_disease XK-related neurodegenerative disease 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:xq25_microduplication_syndrome Xq25 microduplication syndrome 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: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: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:yrdc_related_disorder YRDC-related disorder 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:yuksel_vogel_bauer_syndrome Yuksel-Vogel-Bauer syndrome 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:zbtb40_related_disorder ZBTB40-related disorder Supplemental_disease_name DISEASE_NAME:zbtb42_related_disorder ZBTB42-related disorder 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: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_2 Zimmermann-Laband syndrome 2 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: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: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: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: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:0014667 DOID:0014667 disease of metabolism Disease_Ontology DOID:0050120 DOID:0050120 hemophagocytic lymphohistiocytosis Disease_Ontology DOID:0050144 DOID:0050144 Kartagener syndrome Disease_Ontology DOID:0050145 DOID:0050145 adenoiditis Disease_Ontology DOID:0050156 DOID:0050156 idiopathic pulmonary fibrosis Disease_Ontology DOID:0050328 DOID:0050328 congenital hypothyroidism Disease_Ontology DOID:0050331 DOID:0050331 lacrimoauriculodentodigital syndrome 1 Disease_Ontology DOID:0050335 DOID:0050335 bradyopsia Disease_Ontology DOID:0050336 DOID:0050336 hypophosphatemia Disease_Ontology DOID:0050387 DOID:0050387 nonpapillary renal cell carcinoma Disease_Ontology DOID:0050419 DOID:0050419 complement factor I deficiency Disease_Ontology DOID:0050424 DOID:0050424 familial adenomatous polyposis Disease_Ontology DOID:0050427 DOID:0050427 xeroderma pigmentosum 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:0050433 DOID:0050433 fatal familial insomnia Disease_Ontology DOID:0050434 DOID:0050434 Andersen-Tawil syndrome 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: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:0050458 DOID:0050458 juvenile myelomonocytic leukemia Disease_Ontology DOID:0050461 DOID:0050461 aspartylglucosaminuria Disease_Ontology DOID:0050463 DOID:0050463 campomelic dysplasia Disease_Ontology DOID:0050464 DOID:0050464 Farber lipogranulomatosis 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: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:0050523 DOID:0050523 adult T-cell leukemia/lymphoma Disease_Ontology DOID:0050524 DOID:0050524 maturity-onset diabetes of the young 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: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:0050544 DOID:0050544 hypermethioninemia Disease_Ontology DOID:0050545 DOID:0050545 visceral heterotaxy 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: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:0050566 DOID:0050566 X-linked nonsyndromic deafness Disease_Ontology DOID:0050567 DOID:0050567 orofacial cleft Disease_Ontology DOID:0050569 DOID:0050569 Seckel syndrome Disease_Ontology DOID:0050570 DOID:0050570 congenital disorder of glycosylation type I 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:0050581 DOID:0050581 brachydactyly Disease_Ontology DOID:0050585 DOID:0050585 congenital generalized lipodystrophy Disease_Ontology DOID:0050587 DOID:0050587 trichotillomania 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:0050593 DOID:0050593 primary congenital glaucoma Disease_Ontology DOID:0050600 DOID:0050600 ABCD syndrome Disease_Ontology DOID:0050601 DOID:0050601 ADULT syndrome Disease_Ontology DOID:0050603 DOID:0050603 acheiropody Disease_Ontology DOID:0050604 DOID:0050604 acrocapitofemoral dysplasia Disease_Ontology DOID:0050606 DOID:0050606 acrokeratosis verruciformis 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:0050641 DOID:0050641 Rh deficiency syndrome 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:0050656 DOID:0050656 pseudo-TORCH syndrome 1 Disease_Ontology DOID:0050657 DOID:0050657 Cowden syndrome 1 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:0050669 DOID:0050669 spastic 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:0050678 DOID:0050678 Blau syndrome Disease_Ontology DOID:0050680 DOID:0050680 Boomerang dysplasia Disease_Ontology DOID:0050681 DOID:0050681 Borjeson-Forssman-Lehmann syndrome Disease_Ontology DOID:0050684 DOID:0050684 Bowen-Conradi syndrome 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:0050699 DOID:0050699 Dent disease Disease_Ontology DOID:0050700 DOID:0050700 cardiomyopathy Disease_Ontology DOID:0050709 DOID:0050709 early infantile epileptic encephalopathy Disease_Ontology DOID:0050710 DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency Disease_Ontology DOID:0050712 DOID:0050712 AGAT deficiency 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:0050722 DOID:0050722 PHGDH deficiency Disease_Ontology DOID:0050723 DOID:0050723 PSAT 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:0050729 DOID:0050729 Chanarin-Dorfman syndrome Disease_Ontology DOID:0050737 DOID:0050737 autosomal recessive disease Disease_Ontology DOID:0050741 DOID:0050741 alcohol dependence Disease_Ontology DOID:0050742 DOID:0050742 nicotine dependence 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: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:0050757 DOID:0050757 deafness-dystonia-optic neuronopathy syndrome 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:0050764 DOID:0050764 Armfield syndrome Disease_Ontology DOID:0050768 DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 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: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: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:0050798 DOID:0050798 cerebral creatine deficiency syndrome Disease_Ontology DOID:0050800 DOID:0050800 cerebral creatine deficiency syndrome 1 Disease_Ontology DOID:0050802 DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 Disease_Ontology DOID:0050807 DOID:0050807 Kahrizi syndrome Disease_Ontology DOID:0050811 DOID:0050811 congenital adrenal hyperplasia 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:0050820 DOID:0050820 atrioventricular block Disease_Ontology DOID:0050821 DOID:0050821 first-degree atrioventricular block Disease_Ontology DOID:0050823 DOID:0050823 third-degree atrioventricular block Disease_Ontology DOID:0050831 DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies 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:0050840 DOID:0050840 cervical dystonia Disease_Ontology DOID:0050849 DOID:0050849 periampullary adenoma Disease_Ontology DOID:0050854 DOID:0050854 Muckle-Wells syndrome Disease_Ontology DOID:0050855 DOID:0050855 renal fibrosis Disease_Ontology DOID:0050857 DOID:0050857 Perrault syndrome Disease_Ontology DOID:0050858 DOID:0050858 Marshall-Smith syndrome Disease_Ontology DOID:0050860 DOID:0050860 colorectal adenoma Disease_Ontology DOID:0050861 DOID:0050861 colorectal adenocarcinoma Disease_Ontology DOID:0050866 DOID:0050866 oral squamous cell carcinoma Disease_Ontology DOID:0050873 DOID:0050873 follicular lymphoma Disease_Ontology DOID:0050876 DOID:0050876 Caroli disease 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: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:0050894 DOID:0050894 ameloblastoma Disease_Ontology DOID:0050902 DOID:0050902 medulloblastoma Disease_Ontology DOID:0050905 DOID:0050905 inflammatory myofibroblastic tumor Disease_Ontology DOID:0050908 DOID:0050908 myelodysplastic syndrome Disease_Ontology DOID:0050933 DOID:0050933 ovarian serous carcinoma Disease_Ontology DOID:0050934 DOID:0050934 ovarian clear cell carcinoma Disease_Ontology DOID:0050938 DOID:0050938 breast lobular carcinoma Disease_Ontology DOID:0050939 DOID:0050939 uterine corpus endometrial carcinoma 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: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:0050958 DOID:0050958 spinocerebellar ataxia 7 Disease_Ontology DOID:0050968 DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy Disease_Ontology DOID:0050976 DOID:0050976 spinocerebellar ataxia 27A Disease_Ontology DOID:0050989 DOID:0050989 episodic ataxia type 1 Disease_Ontology DOID:0050990 DOID:0050990 episodic ataxia type 2 Disease_Ontology DOID:0050993 DOID:0050993 episodic ataxia type 5 Disease_Ontology DOID:0050994 DOID:0050994 episodic ataxia type 6 Disease_Ontology DOID:0050999 DOID:0050999 autosomal recessive spinocerebellar ataxia 10 Disease_Ontology DOID:0051011 DOID:0051011 Bryant-Li-Bhoj neurodevelopmental syndrome 1 Disease_Ontology DOID:0051013 DOID:0051013 pseudohypoparathyroidism type 1C 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:0051043 DOID:0051043 Charcot-Marie-Tooth disease axonal type 2JJ 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: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:0051059 DOID:0051059 autosomal recessive Segawa syndrome Disease_Ontology DOID:0051061 DOID:0051061 stroke Disease_Ontology DOID:0051062 DOID:0051062 ischemic stroke Disease_Ontology DOID:0051065 DOID:0051065 chronic pancreatitis Disease_Ontology DOID:0051067 DOID:0051067 Fontaine progeroid syndrome 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:0051076 DOID:0051076 neurodevelopmental disorder with parkinsonism or other movement abnormalities Disease_Ontology DOID:0051078 DOID:0051078 congenital anomalies of the kidney and urinary tract 3 Disease_Ontology DOID:0051081 DOID:0051081 polycystic kidney disease 8 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: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:0051098 DOID:0051098 retinitis pigmentosa 107 Disease_Ontology DOID:0060002 DOID:0060002 C1 inhibitor 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:0060020 DOID:0060020 reticular dysgenesis Disease_Ontology DOID:0060021 DOID:0060021 DNA ligase IV deficiency Disease_Ontology DOID:0060036 DOID:0060036 intrinsic cardiomyopathy Disease_Ontology DOID:0060040 DOID:0060040 pervasive developmental disorder Disease_Ontology DOID:0060041 DOID:0060041 autism spectrum disorder Disease_Ontology DOID:0060055 DOID:0060055 popliteal pterygium syndrome Disease_Ontology DOID:0060058 DOID:0060058 lymphoma Disease_Ontology DOID:0060060 DOID:0060060 non-Hodgkin lymphoma Disease_Ontology DOID:0060067 DOID:0060067 Pearson syndrome Disease_Ontology DOID:0060074 DOID:0060074 ductal carcinoma in situ Disease_Ontology DOID:0060079 DOID:0060079 HER2 positive breast cancer Disease_Ontology DOID:0060081 DOID:0060081 triple-negative breast cancer Disease_Ontology DOID:0060104 DOID:0060104 cerebellar medulloblastoma Disease_Ontology DOID:0060119 DOID:0060119 pharynx cancer Disease_Ontology DOID:0060161 DOID:0060161 Kennedy's disease Disease_Ontology DOID:0060162 DOID:0060162 dentatorubral-pallidoluysian atrophy Disease_Ontology DOID:0060165 DOID:0060165 Kleine-Levin syndrome 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: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:0060178 DOID:0060178 familial hemiplegic migraine Disease_Ontology DOID:0060179 DOID:0060179 Renpenning syndrome Disease_Ontology DOID:0060180 DOID:0060180 colitis Disease_Ontology DOID:0060193 DOID:0060193 amyotrophic lateral sclerosis type 1 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: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: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: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:0060221 DOID:0060221 Maffucci syndrome Disease_Ontology DOID:0060224 DOID:0060224 atrial fibrillation Disease_Ontology DOID:0060225 DOID:0060225 3MC syndrome Disease_Ontology DOID:0060227 DOID:0060227 Adams-Oliver syndrome 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: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:0060241 DOID:0060241 3-M syndrome Disease_Ontology DOID:0060242 DOID:0060242 synpolydactyly Disease_Ontology DOID:0060243 DOID:0060243 stuttering 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: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:0060257 DOID:0060257 dyschromatosis symmetrica hereditaria Disease_Ontology DOID:0060258 DOID:0060258 reticulate acropigmentation of Kitamura 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: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:0060282 DOID:0060282 persistent hyperplastic primary vitreous 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: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:0060294 DOID:0060294 cold-induced sweating syndrome Disease_Ontology DOID:0060295 DOID:0060295 complement component 2 deficiency 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:0060306 DOID:0060306 Meier-Gorlin syndrome Disease_Ontology DOID:0060316 DOID:0060316 orofaciodigital syndrome I Disease_Ontology DOID:0060318 DOID:0060318 acute promyelocytic leukemia Disease_Ontology DOID:0060319 DOID:0060319 cardiac arrest 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:0060334 DOID:0060334 transient neonatal diabetes mellitus Disease_Ontology DOID:0060336 DOID:0060336 3-methylglutaconic aciduria Disease_Ontology DOID:0060337 DOID:0060337 CEDNIK syndrome 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:0060346 DOID:0060346 congenital myopathy 13 Disease_Ontology DOID:0060348 DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome 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: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:0060375 DOID:0060375 orofaciodigital syndrome V Disease_Ontology DOID:0060382 DOID:0060382 orofaciodigital syndrome IX Disease_Ontology DOID:0060386 DOID:0060386 Chilblain lupus Disease_Ontology DOID:0060387 DOID:0060387 chondrodysplasia Blomstrand type 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:0060398 DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb Disease_Ontology DOID:0060401 DOID:0060401 chromosome 16q22 deletion syndrome Disease_Ontology DOID:0060405 DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome Disease_Ontology DOID:0060409 DOID:0060409 NFIA-related disorder Disease_Ontology DOID:0060411 DOID:0060411 chromosome 1q21.1 deletion syndrome Disease_Ontology DOID:0060413 DOID:0060413 chromosome 22q11.2 deletion syndrome, distal Disease_Ontology DOID:0060415 DOID:0060415 chromosome 2p16.1-p15 deletion syndrome Disease_Ontology DOID:0060418 DOID:0060418 chromosome 3q13.31 deletion syndrome Disease_Ontology DOID:0060428 DOID:0060428 SATB2-associated syndrome Disease_Ontology DOID:0060435 DOID:0060435 chromosome 1q21.1 duplication syndrome Disease_Ontology DOID:0060438 DOID:0060438 Cole-Carpenter syndrome Disease_Ontology DOID:0060439 DOID:0060439 lysinuric protein intolerance Disease_Ontology DOID:0060441 DOID:0060441 epithelial-stromal TGFBI 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:0060447 DOID:0060447 epithelial basement membrane dystrophy Disease_Ontology DOID:0060448 DOID:0060448 Fleck corneal dystrophy Disease_Ontology DOID:0060450 DOID:0060450 Lisch epithelial corneal dystrophy Disease_Ontology DOID:0060451 DOID:0060451 Meesmann corneal dystrophy Disease_Ontology DOID:0060453 DOID:0060453 Reis-Bucklers 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:0060460 DOID:0060460 chromosome 5p13 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:0060468 DOID:0060468 Holt-Oram syndrome Disease_Ontology DOID:0060469 DOID:0060469 Miller-Dieker lissencephaly 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:0060476 DOID:0060476 Perlman syndrome 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: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: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: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: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:0060563 DOID:0060563 Char syndrome Disease_Ontology DOID:0060565 DOID:0060565 Ritscher-Schinzel syndrome Disease_Ontology DOID:0060569 DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type 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: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: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: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: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: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: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:0060682 DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 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: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: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:0060716 DOID:0060716 autosomal recessive congenital ichthyosis 7 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:0060732 DOID:0060732 chromosome 9p deletion syndrome Disease_Ontology DOID:0060733 DOID:0060733 junctional epidermolysis bullosa with pyloric atresia Disease_Ontology DOID:0060736 DOID:0060736 epidermolysis bullosa simplex 5A Ogna 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:0060751 DOID:0060751 familial temporal lobe epilepsy 7 Disease_Ontology DOID:0060752 DOID:0060752 familial temporal lobe epilepsy 5 Disease_Ontology DOID:0060754 DOID:0060754 familial temporal lobe epilepsy 8 Disease_Ontology DOID:0060757 DOID:0060757 sclerosteosis 2 Disease_Ontology DOID:0060758 DOID:0060758 immunodeficiency with hyper-IgM type 2 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:0060773 DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome Disease_Ontology DOID:0060774 DOID:0060774 congenital diarrhea 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: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:0060783 DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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:0060795 DOID:0060795 hypomyelinating leukodystrophy 13 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: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:0060809 DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type Disease_Ontology DOID:0060812 DOID:0060812 syndromic X-linked intellectual disability Siderius 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: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: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:0060836 DOID:0060836 isolated microphthalmia 4 Disease_Ontology DOID:0060839 DOID:0060839 isolated microphthalmia 2 Disease_Ontology DOID:0060841 DOID:0060841 isolated microphthalmia 8 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:0060852 DOID:0060852 Pierson syndrome Disease_Ontology DOID:0060853 DOID:0060853 Potocki-Lupski syndrome Disease_Ontology DOID:0060855 DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 Disease_Ontology DOID:0060856 DOID:0060856 right atrial isomerism Disease_Ontology DOID:0060861 DOID:0060861 microphthalmia with limb anomalies Disease_Ontology DOID:0060862 DOID:0060862 mal de Meleda 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:0060874 DOID:0060874 isolated growth hormone deficiency type IB 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:0060881 DOID:0060881 renal hypomagnesemia 5 with ocular involvement Disease_Ontology DOID:0060883 DOID:0060883 intestinal hypomagnesemia 1 Disease_Ontology DOID:0060884 DOID:0060884 renal hypomagnesemia 6 Disease_Ontology DOID:0060886 DOID:0060886 osteopathia striata with cranial sclerosis Disease_Ontology DOID:0060888 DOID:0060888 transient myeloproliferative syndrome Disease_Ontology DOID:0060889 DOID:0060889 prune belly 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:0060902 DOID:0060902 Norman-Roberts syndrome Disease_Ontology DOID:0060903 DOID:0060903 thrombosis 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:0060916 DOID:0060916 proteasome-associated autoinflammatory syndrome 3 Disease_Ontology DOID:0060923 DOID:0060923 otosclerosis 4 Disease_Ontology DOID:0060928 DOID:0060928 otosclerosis 11 Disease_Ontology DOID:0060930 DOID:0060930 developmental dysplasia of the hip 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: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:0060946 DOID:0060946 Ullrich congenital muscular dystrophy 1A Disease_Ontology DOID:0060948 DOID:0060948 Ullrich congenital muscular dystrophy 2 Disease_Ontology DOID:0060950 DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia 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:0060959 DOID:0060959 orofaciodigital syndrome II 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: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:0060975 DOID:0060975 polycystic liver disease 2 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:0060982 DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition Disease_Ontology DOID:0060983 DOID:0060983 sitosterolemia 2 Disease_Ontology DOID:0060986 DOID:0060986 preaxial polydactyly II 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:0060997 DOID:0060997 rhabdoid tumor predisposition syndrome 2 Disease_Ontology DOID:0060999 DOID:0060999 mitochondrial trifunctional protein deficiency 2 Disease_Ontology DOID:0061001 DOID:0061001 glycine encephalopathy 2 Disease_Ontology DOID:0061003 DOID:0061003 pancreatic agenesis 1 Disease_Ontology DOID:0061005 DOID:0061005 congenital amegakaryocytic thrombocytopenia 1 Disease_Ontology DOID:0061008 DOID:0061008 craniosynostosis 6 Disease_Ontology DOID:0061009 DOID:0061009 craniosynostosis 2 Disease_Ontology DOID:0061012 DOID:0061012 craniosynostosis 4 Disease_Ontology DOID:0061013 DOID:0061013 ovarian dysgenesis 9 Disease_Ontology DOID:0061017 DOID:0061017 combined pituitary hormone deficiency 4 Disease_Ontology DOID:0061028 DOID:0061028 Duane retraction syndrome 2 Disease_Ontology DOID:0061030 DOID:0061030 hemophilia 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:0061057 DOID:0061057 immunodeficiency 87 Disease_Ontology DOID:0061058 DOID:0061058 immunodeficiency 88 Disease_Ontology DOID:0061059 DOID:0061059 immunodeficiency 89 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:0061069 DOID:0061069 immunodeficiency 99 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:0061079 DOID:0061079 immunodeficiency 112 Disease_Ontology DOID:0061081 DOID:0061081 immunodeficiency 115 Disease_Ontology DOID:0061083 DOID:0061083 immunodeficiency 117 Disease_Ontology DOID:0061084 DOID:0061084 immunodeficiency 118 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:0061091 DOID:0061091 immunodeficiency 125 Disease_Ontology DOID:0061092 DOID:0061092 immunodeficiency 127 Disease_Ontology DOID:0061093 DOID:0061093 immunodeficiency 128 Disease_Ontology DOID:0061097 DOID:0061097 immunodeficiency 132B 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:0061107 DOID:0061107 retinitis pigmentosa 92 Disease_Ontology DOID:0061108 DOID:0061108 retinitis pigmentosa 79 Disease_Ontology DOID:0061110 DOID:0061110 retinitis pigmentosa 97 Disease_Ontology DOID:0061111 DOID:0061111 retinitis pigmentosa 80 Disease_Ontology DOID:0061117 DOID:0061117 Perrault syndrome 2 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:0061129 DOID:0061129 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 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:0061152 DOID:0061152 monilethrix 2 Disease_Ontology DOID:0061153 DOID:0061153 monilethrix 3 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:0061167 DOID:0061167 autosomal recessive proximal renal tubular acidosis Disease_Ontology DOID:0061175 DOID:0061175 Gollop-Wolfgang complex Disease_Ontology DOID:0061176 DOID:0061176 developmental and epileptic encephalopathy 118 Disease_Ontology DOID:0061179 DOID:0061179 Adams-Oliver syndrome 3 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:0061186 DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 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:0061209 DOID:0061209 branchiootic syndrome 1 Disease_Ontology DOID:0061210 DOID:0061210 branchiootic syndrome 3 Disease_Ontology DOID:0061213 DOID:0061213 telomere biology disorder 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: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:0061231 DOID:0061231 enhanced S-cone syndrome 1 Disease_Ontology DOID:0061232 DOID:0061232 enhanced S-cone syndrome 2 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: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: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: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: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: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:0061268 DOID:0061268 lethal congenital contracture syndrome 12 Disease_Ontology DOID:0061270 DOID:0061270 periventricular nodular heterotopia 7 Disease_Ontology DOID:0061273 DOID:0061273 Weill-Marchesani syndrome 1 Disease_Ontology DOID:0061275 DOID:0061275 Weill-Marchesani syndrome 3 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: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: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: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:0070021 DOID:0070021 autosomal recessive dyskeratosis congenita 4 Disease_Ontology DOID:0070026 DOID:0070026 Revesz syndrome Disease_Ontology DOID:0070039 DOID:0070039 NESCAV syndrome Disease_Ontology DOID:0070042 DOID:0070042 Coffin-Siris syndrome 1 Disease_Ontology DOID:0070047 DOID:0070047 Schuurs-Hoeijmakers Syndrome Disease_Ontology DOID:0070050 DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Disease_Ontology DOID:0070054 DOID:0070054 Vulto-van Silfout-de Vries syndrome Disease_Ontology DOID:0070055 DOID:0070055 Xia-Gibbs Syndrome Disease_Ontology DOID:0070062 DOID:0070062 Arboleda-Tham syndrome Disease_Ontology DOID:0070080 DOID:0070080 schizophrenia 4 Disease_Ontology DOID:0070082 DOID:0070082 schizophrenia 6 Disease_Ontology DOID:0070091 DOID:0070091 schizophrenia 15 Disease_Ontology DOID:0070093 DOID:0070093 schizophrenia 18 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:0070128 DOID:0070128 congenital nongoitrous hypothyroidism 6 Disease_Ontology DOID:0070131 DOID:0070131 autosomal dominant cutis laxa 3 Disease_Ontology DOID:0070146 DOID:0070146 congenital insensitivity to pain with anhidrosis Disease_Ontology DOID:0070149 DOID:0070149 hereditary sensory and autonomic neuropathy type 7 Disease_Ontology DOID:0070151 DOID:0070151 hereditary sensory and autonomic neuropathy type 6 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: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:0070172 DOID:0070172 spermatogenic failure 15 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: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:0070184 DOID:0070184 spermatogenic failure 16 Disease_Ontology DOID:0070188 DOID:0070188 spermatogenic failure 1 Disease_Ontology DOID:0070199 DOID:0070199 Miyoshi muscular dystrophy 1 Disease_Ontology DOID:0070201 DOID:0070201 Miyoshi muscular dystrophy 3 Disease_Ontology DOID:0070202 DOID:0070202 familial partial lipodystrophy type 2 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:0070212 DOID:0070212 hereditary lymphedema I Disease_Ontology DOID:0070214 DOID:0070214 familial hyperinsulinemic hypoglycemia 7 Disease_Ontology DOID:0070217 DOID:0070217 familial hyperinsulinemic hypoglycemia 6 Disease_Ontology DOID:0070220 DOID:0070220 familial hyperinsulinemic hypoglycemia 5 Disease_Ontology DOID:0070221 DOID:0070221 progressive familial intrahepatic cholestasis Disease_Ontology DOID:0070230 DOID:0070230 benign recurrent intrahepatic cholestasis 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: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:0070252 DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 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:0070271 DOID:0070271 Lynch syndrome 1 Disease_Ontology DOID:0070296 DOID:0070296 autosomal recessive primary microcephaly Disease_Ontology DOID:0070297 DOID:0070297 primary microcephaly Disease_Ontology DOID:0070307 DOID:0070307 craniolenticulosutural dysplasia Disease_Ontology DOID:0070311 DOID:0070311 oligoasthenoteratozoospermia Disease_Ontology DOID:0070315 DOID:0070315 hypoplastic right heart syndrome Disease_Ontology DOID:0070316 DOID:0070316 Miura type epiphyseal chondrodysplasia Disease_Ontology DOID:0070322 DOID:0070322 childhood hepatocellular carcinoma Disease_Ontology DOID:0070326 DOID:0070326 spitzoid melanoma Disease_Ontology DOID:0070329 DOID:0070329 mitochondrial DNA depletion syndrome Disease_Ontology DOID:0070330 DOID:0070330 multiple mitochondrial dysfunctions syndrome Disease_Ontology DOID:0070332 DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 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:0070342 DOID:0070342 adult-onset type II citrullinemia 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:0070348 DOID:0070348 spinal muscular atrophy with lower extremity predominant Disease_Ontology DOID:0070354 DOID:0070354 cataract 48 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:0070363 DOID:0070363 bradyopsia 1 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: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:0070381 DOID:0070381 developmental and epileptic encephalopathy 90 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: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:0070408 DOID:0070408 Hengel-Maroofian-Schols syndrome 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:0070420 DOID:0070420 developmental delay, hypotonia, and impaired language 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:0070430 DOID:0070430 combined oxidative phosphorylation deficiency 57 Disease_Ontology DOID:0070439 DOID:0070439 North Carolina macular dystrophy 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: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:0070450 DOID:0070450 mitochondrial DNA depletion syndrome 19 Disease_Ontology DOID:0070451 DOID:0070451 mitochondrial DNA depletion syndrome 20 Disease_Ontology DOID:0070453 DOID:0070453 xanthinuria type II 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: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:0070473 DOID:0070473 Zaki syndrome Disease_Ontology DOID:0070474 DOID:0070474 childhood-onset neurodegeneration with brain atrophy 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:0070484 DOID:0070484 Legius syndrome Disease_Ontology DOID:0070485 DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 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:0070499 DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 Disease_Ontology DOID:0070501 DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 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: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: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:0070520 DOID:0070520 peeling skin syndrome 1 Disease_Ontology DOID:0070521 DOID:0070521 peeling skin syndrome 2 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:0070529 DOID:0070529 Sifrim-Hitz-Weiss syndrome Disease_Ontology DOID:0070530 DOID:0070530 foveal hypoplasia 1 Disease_Ontology DOID:0070532 DOID:0070532 aniridia 1 Disease_Ontology DOID:0070536 DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 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:0070545 DOID:0070545 developmental and epileptic encephalopathy 116 Disease_Ontology DOID:0070552 DOID:0070552 epidermolytic palmoplantar keratoderma 1 Disease_Ontology DOID:0070555 DOID:0070555 Nagashima-type palmoplantar keratosis 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:0070565 DOID:0070565 spermatogenic failure 66 Disease_Ontology DOID:0070566 DOID:0070566 spermatogenic failure 67 Disease_Ontology DOID:0070568 DOID:0070568 spermatogenic failure 69 Disease_Ontology DOID:0070569 DOID:0070569 spermatogenic failure 70 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: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:0070584 DOID:0070584 spermatogenic failure 85 Disease_Ontology DOID:0070587 DOID:0070587 spermatogenic failure 88 Disease_Ontology DOID:0070589 DOID:0070589 spermatogenic failure 90 Disease_Ontology DOID:0070592 DOID:0070592 spermatogenic failure 93 Disease_Ontology DOID:0070593 DOID:0070593 spermatogenic failure 94 Disease_Ontology DOID:0070600 DOID:0070600 intellectual disability and myopathy syndrome Disease_Ontology DOID:0070613 DOID:0070613 familial renal glucosuria 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:0070634 DOID:0070634 sitosterolemia 1 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:0070648 DOID:0070648 cherubism 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:0070657 DOID:0070657 congenital variant of Rett syndrome Disease_Ontology DOID:0070658 DOID:0070658 alcohol-associated liver disease 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:0070668 DOID:0070668 Snijders Blok-Campeau syndrome Disease_Ontology DOID:0070677 DOID:0070677 Ferguson-Bonni neurodevelopmental syndrome Disease_Ontology DOID:0070681 DOID:0070681 congenital hydrocephalus 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:0070699 DOID:0070699 STAD syndrome Disease_Ontology DOID:0070701 DOID:0070701 small fiber neuropathy Disease_Ontology DOID:0070703 DOID:0070703 Meckel syndrome 14 Disease_Ontology DOID:0070705 DOID:0070705 dentin dysplasia type IB 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: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: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:0070733 DOID:0070733 multiple mitochondrial dysfunctions syndrome 7 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: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:0070744 DOID:0070744 early childhood-onset progressive leukodystrophy 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: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:0070757 DOID:0070757 Pilarowski-Bjornsson syndrome 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:0080038 DOID:0080038 pycnodysostosis 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:0080049 DOID:0080049 acromesomelic dysplasia 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: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:0080071 DOID:0080071 mucolipidosis III alpha/beta Disease_Ontology DOID:0080072 DOID:0080072 intestinal pseudo-obstruction 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:0080081 DOID:0080081 nonsyndromic congenital nail disorder 3 Disease_Ontology DOID:0080082 DOID:0080082 nonsyndromic congenital nail disorder 4 Disease_Ontology DOID:0080086 DOID:0080086 nonsyndromic congenital nail disorder 8 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:0080099 DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia Disease_Ontology DOID:0080101 DOID:0080101 Compton-North congenital 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:0080119 DOID:0080119 mitochondrial DNA depletion syndrome 1 Disease_Ontology DOID:0080122 DOID:0080122 Alpers-Huttenlocher syndrome Disease_Ontology DOID:0080123 DOID:0080123 mitochondrial DNA depletion syndrome 4b 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: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:0080135 DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 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:0080155 DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency 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:0080177 DOID:0080177 hepatic veno-occlusive disease Disease_Ontology DOID:0080181 DOID:0080181 PHARC syndrome Disease_Ontology DOID:0080188 DOID:0080188 chronic myelomonocytic leukemia 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:0080199 DOID:0080199 colorectal carcinoma 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:0080212 DOID:0080212 polycystic kidney disease 4 Disease_Ontology DOID:0080215 DOID:0080215 developmental and epileptic encephalopathy 8 Disease_Ontology DOID:0080217 DOID:0080217 lysosomal acid lipase deficiency Disease_Ontology DOID:0080219 DOID:0080219 dystransthyretinemic hyperthyroxinemia Disease_Ontology DOID:0080222 DOID:0080222 pseudohypoparathyroidism type 1B Disease_Ontology DOID:0080225 DOID:0080225 amyotrophic lateral sclerosis type 23 Disease_Ontology DOID:0080234 DOID:0080234 Clark-Baraitser syndrome 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:0080255 DOID:0080255 Meier-Gorlin syndrome 8 Disease_Ontology DOID:0080256 DOID:0080256 Perrault syndrome 6 Disease_Ontology DOID:0080264 DOID:0080264 exudative vitreoretinopathy 7 Disease_Ontology DOID:0080265 DOID:0080265 RENI syndrome Disease_Ontology DOID:0080273 DOID:0080273 polycystic kidney disease 5 Disease_Ontology DOID:0080275 DOID:0080275 Joubert syndrome 30 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:0080281 DOID:0080281 schizophrenia 19 Disease_Ontology DOID:0080282 DOID:0080282 developmental and epileptic encephalopathy 56 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: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:0080297 DOID:0080297 Coffin-Siris syndrome 6 Disease_Ontology DOID:0080301 DOID:0080301 atypical hemolytic-uremic syndrome 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:0080312 DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations 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: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:0080322 DOID:0080322 polycystic kidney disease 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:0080328 DOID:0080328 Culler-Jones syndrome Disease_Ontology DOID:0080329 DOID:0080329 cold-induced sweating syndrome 1 Disease_Ontology DOID:0080333 DOID:0080333 aortic valve disease 1 Disease_Ontology DOID:0080334 DOID:0080334 aortic valve disease 2 Disease_Ontology DOID:0080342 DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 Disease_Ontology DOID:0080345 DOID:0080345 blepharocheilodontic syndrome 1 Disease_Ontology DOID:0080346 DOID:0080346 blepharocheilodontic syndrome 2 Disease_Ontology DOID:0080349 DOID:0080349 developmental and epileptic encephalopathy 39 Disease_Ontology DOID:0080351 DOID:0080351 CLOVES syndrome Disease_Ontology DOID:0080354 DOID:0080354 Phelan-McDermid syndrome Disease_Ontology DOID:0080361 DOID:0080361 trimethylaminuria Disease_Ontology DOID:0080366 DOID:0080366 desmoid tumor Disease_Ontology DOID:0080369 DOID:0080369 ovarian sex-cord stromal tumor Disease_Ontology DOID:0080376 DOID:0080376 trichorhinophalangeal syndrome type III Disease_Ontology DOID:0080379 DOID:0080379 nephrotic syndrome type 2 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: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: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: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:0080403 DOID:0080403 orofacial cleft 10 Disease_Ontology DOID:0080404 DOID:0080404 orofacial cleft 11 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: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: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: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: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: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:0080503 DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome Disease_Ontology DOID:0080505 DOID:0080505 Cornelia de Lange syndrome 1 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: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:0080523 DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Disease_Ontology DOID:0080533 DOID:0080533 Carney-Stratakis syndrome Disease_Ontology DOID:0080535 DOID:0080535 hypermanganesemia with dystonia 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: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:0080559 DOID:0080559 congenital disorder of glycosylation Ig Disease_Ontology DOID:0080575 DOID:0080575 Larsen-like syndrome B3GAT3 type Disease_Ontology DOID:0080576 DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type 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:0080585 DOID:0080585 Van Maldergem syndrome 1 Disease_Ontology DOID:0080586 DOID:0080586 Van Maldergem syndrome 2 Disease_Ontology DOID:0080597 DOID:0080597 Kleefstra syndrome Disease_Ontology DOID:0080598 DOID:0080598 Kleefstra syndrome 2 Disease_Ontology DOID:0080606 DOID:0080606 anterior segment dysgenesis 1 Disease_Ontology DOID:0080608 DOID:0080608 anterior segment dysgenesis 3 Disease_Ontology DOID:0080609 DOID:0080609 anterior segment dysgenesis 4 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: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:0080626 DOID:0080626 corticosterone methyloxidase deficiency 1 Disease_Ontology DOID:0080631 DOID:0080631 Elsahy-Waters syndrome Disease_Ontology DOID:0080636 DOID:0080636 syndromic microphthalmia Disease_Ontology DOID:0080638 DOID:0080638 B-cell acute lymphoblastic leukemia 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:0080646 DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy Disease_Ontology DOID:0080647 DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy Disease_Ontology DOID:0080662 DOID:0080662 atrial standstill 1 Disease_Ontology DOID:0080663 DOID:0080663 atrial standstill 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:0080677 DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant Disease_Ontology DOID:0080684 DOID:0080684 diffuse midline glioma, H3 K27-altered Disease_Ontology DOID:0080685 DOID:0080685 aortic dissection 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:0080696 DOID:0080696 Winchester 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:0080711 DOID:0080711 multisystem inflammatory syndrome in children 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: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:0080728 DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 Disease_Ontology DOID:0080730 DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type 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:0080736 DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 Disease_Ontology DOID:0080737 DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 Disease_Ontology DOID:0080744 DOID:0080744 antisynthetase syndrome Disease_Ontology DOID:0080746 DOID:0080746 Sweet syndrome Disease_Ontology DOID:0080751 DOID:0080751 keratosis pilaris atrophicans 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:0080761 DOID:0080761 Fanconi renotubular syndrome 5 Disease_Ontology DOID:0080763 DOID:0080763 diffuse gastric cancer Disease_Ontology DOID:0080764 DOID:0080764 hereditary diffuse gastric cancer Disease_Ontology DOID:0080766 DOID:0080766 erythrokeratodermia variabilis et progressiva 6 Disease_Ontology DOID:0080768 DOID:0080768 pyridoxine-dependent epilepsy 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: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:0080785 DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 Disease_Ontology DOID:0080786 DOID:0080786 Brown-Vialetto-Van Laere syndrome 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: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:0080828 DOID:0080828 VEXAS syndrome Disease_Ontology DOID:0080829 DOID:0080829 low grade glioma Disease_Ontology DOID:0080833 DOID:0080833 laryngomalacia Disease_Ontology DOID:0080840 DOID:0080840 optic atrophy 12 Disease_Ontology DOID:0080857 DOID:0080857 primary ovarian insufficiency 1 Disease_Ontology DOID:0080878 DOID:0080878 IDH-wildtype glioblastoma 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:0080886 DOID:0080886 vitamin D-dependent rickets type 1A Disease_Ontology DOID:0080889 DOID:0080889 posterior fossa ependymoma Disease_Ontology DOID:0080893 DOID:0080893 Bainbridge-Ropers syndrome Disease_Ontology DOID:0080898 DOID:0080898 cerebellofaciodental syndrome Disease_Ontology DOID:0080904 DOID:0080904 astroblastoma, MN1-altered 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:0080916 DOID:0080916 erythroleukemia Disease_Ontology DOID:0080917 DOID:0080917 sporadic amyotrophic lateral sclerosis Disease_Ontology DOID:0080918 DOID:0080918 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: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:0080948 DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome Disease_Ontology DOID:0080952 DOID:0080952 AMED syndrome Disease_Ontology DOID:0080957 DOID:0080957 primary hypoalphalipoproteinemia 1 Disease_Ontology DOID:0080958 DOID:0080958 primary hypoalphalipoproteinemia 2 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:0080977 DOID:0080977 aortic valve disease 3 Disease_Ontology DOID:0080981 DOID:0080981 arthrogryposis multiplex congenita-5 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:0080992 DOID:0080992 rhabdomyolysis-myalgia syndrome 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: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:0081023 DOID:0081023 retinal cone dystrophy 4 Disease_Ontology DOID:0081030 DOID:0081030 central conducting lymphatic anomaly Disease_Ontology DOID:0081034 DOID:0081034 glutathione synthetase deficiency with 5-oxoprolinuria Disease_Ontology DOID:0081042 DOID:0081042 T-cell prolymphocytic leukemia Disease_Ontology DOID:0081044 DOID:0081044 frontonasal dysplasia Disease_Ontology DOID:0081045 DOID:0081045 frontonasal dysplasia 1 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:0081051 DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations 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:0081078 DOID:0081078 ectodermal dysplasia and immunodeficiency 1 Disease_Ontology DOID:0081079 DOID:0081079 ectodermal dysplasia and immunodeficiency 2 Disease_Ontology DOID:0081097 DOID:0081097 Rafiq syndrome Disease_Ontology DOID:0081102 DOID:0081102 familial gestational hyperthyroidism 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:0081121 DOID:0081121 inclusion body myopathy and brain white matter abnormalities Disease_Ontology DOID:0081122 DOID:0081122 Catel Manzke syndrome Disease_Ontology DOID:0081126 DOID:0081126 DeSanto-Shinawi syndrome Disease_Ontology DOID:0081127 DOID:0081127 mandibuloacral dysplasia Disease_Ontology DOID:0081168 DOID:0081168 HMG-CoA synthase 2 deficiency Disease_Ontology DOID:0081169 DOID:0081169 Leber congenital amaurosis 19 Disease_Ontology DOID:0081223 DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 Disease_Ontology DOID:0081237 DOID:0081237 acromesomelic dysplasia 3 Disease_Ontology DOID:0081238 DOID:0081238 acromesomelic dysplasia 4 Disease_Ontology DOID:0081240 DOID:0081240 peroxisome biogenesis disorder 1B Disease_Ontology DOID:0081242 DOID:0081242 autoimmune interstitial lung, joint, and kidney disease 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:0081254 DOID:0081254 posterior fossa group A ependymoma Disease_Ontology DOID:0081255 DOID:0081255 posterior fossa group B ependymoma 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: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: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: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: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:0081291 DOID:0081291 chronic traumatic encephalopathy Disease_Ontology DOID:0081297 DOID:0081297 oculopharyngodistal myopathy 1 Disease_Ontology DOID:0081298 DOID:0081298 oculopharyngodistal myopathy 2 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:0081304 DOID:0081304 high-grade astrocytoma with piloid features Disease_Ontology DOID:0081316 DOID:0081316 primary intracranial sarcoma, DICER1-mutant Disease_Ontology DOID:0081318 DOID:0081318 multiple synostoses syndrome 2 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: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:0081327 DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Disease_Ontology DOID:0081329 DOID:0081329 glycogen storage disease I Disease_Ontology DOID:0081333 DOID:0081333 Wiedemann-Rautenstrauch syndrome Disease_Ontology DOID:0081334 DOID:0081334 Nestor-Guillermo progeria syndrome 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:0081347 DOID:0081347 congenital myopathy 15 Disease_Ontology DOID:0081350 DOID:0081350 congenital myopathy 18 Disease_Ontology DOID:0081352 DOID:0081352 congenital myopathy 20 Disease_Ontology DOID:0081353 DOID:0081353 congenital myopathy 21 Disease_Ontology DOID:0081358 DOID:0081358 epidermolytic hyperkeratosis 1 Disease_Ontology DOID:0081362 DOID:0081362 Pierpont syndrome Disease_Ontology DOID:0081364 DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Disease_Ontology DOID:0081366 DOID:0081366 Paget disease of bone 3 Disease_Ontology DOID:0081369 DOID:0081369 Paget disease of bone 6 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:0081384 DOID:0081384 ataxia-telangiectasia-like disorder 1 Disease_Ontology DOID:0081385 DOID:0081385 ataxia-telangiectasia-like disorder 2 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:0081391 DOID:0081391 semantic dementia Disease_Ontology DOID:0081392 DOID:0081392 corticobasal degeneration syndrome Disease_Ontology DOID:0081395 DOID:0081395 Harel-Yoon syndrome Disease_Ontology DOID:0081397 DOID:0081397 Vissers-Bodmer syndrome Disease_Ontology DOID:0081398 DOID:0081398 holoprosencephaly 12 Disease_Ontology DOID:0081420 DOID:0081420 familial focal epilepsy with variable foci 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: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:0081449 DOID:0081449 cone-rod dystrophy 24 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:0090005 DOID:0090005 Schwartz-Jampel syndrome 1 Disease_Ontology DOID:0090006 DOID:0090006 renal coloboma 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:0090015 DOID:0090015 Cenani-Lenz syndactyly syndrome 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: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:0090026 DOID:0090026 split hand-foot malformation 6 Disease_Ontology DOID:0090028 DOID:0090028 familial isolated deficiency of vitamin E Disease_Ontology DOID:0090031 DOID:0090031 D-bifunctional protein deficiency Disease_Ontology DOID:0090033 DOID:0090033 myoclonic dystonia Disease_Ontology DOID:0090034 DOID:0090034 myoclonic dystonia 11 Disease_Ontology DOID:0090038 DOID:0090038 torsion dystonia 2 Disease_Ontology DOID:0090039 DOID:0090039 torsion dystonia 6 Disease_Ontology DOID:0090041 DOID:0090041 torsion dystonia 4 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: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:0090053 DOID:0090053 episodic kinesigenic dyskinesia 1 Disease_Ontology DOID:0090055 DOID:0090055 dystonia 25 Disease_Ontology DOID:0090057 DOID:0090057 X-linked dystonia-parkinsonism 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:0090068 DOID:0090068 giant axonal neuropathy 1 Disease_Ontology DOID:0090069 DOID:0090069 giant axonal neuropathy 2 Disease_Ontology DOID:0090071 DOID:0090071 hypogonadotropic hypogonadism 11 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: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: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: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:0090101 DOID:0090101 lethal congenital glycogen storage disease of heart 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: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:0090111 DOID:0090111 PCWH syndrome Disease_Ontology DOID:0090113 DOID:0090113 RIDDLE syndrome Disease_Ontology DOID:0090116 DOID:0090116 spondylocarpotarsal synostosis 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:0090124 DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 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: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: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: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:0110004 DOID:0110004 3-methylglutaconic aciduria type 3 Disease_Ontology DOID:0110005 DOID:0110005 Leber congenital amaurosis 9 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:0110019 DOID:0110019 age related macular degeneration 7 Disease_Ontology DOID:0110021 DOID:0110021 age related macular degeneration 9 Disease_Ontology DOID:0110023 DOID:0110023 age related macular degeneration 11 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:0110030 DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome Disease_Ontology DOID:0110031 DOID:0110031 hemoglobin H disease 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:0110038 DOID:0110038 Alzheimer's disease 6 Disease_Ontology DOID:0110040 DOID:0110040 Alzheimer's disease 4 Disease_Ontology DOID:0110042 DOID:0110042 Alzheimer's disease 3 Disease_Ontology DOID:0110050 DOID:0110050 Alzheimer's disease 18 Disease_Ontology DOID:0110054 DOID:0110054 amelogenesis imperfecta type 1A Disease_Ontology DOID:0110056 DOID:0110056 amelogenesis imperfecta type 1C 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: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: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:0110074 DOID:0110074 arrhythmogenic right ventricular dysplasia 5 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: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: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: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:0110120 DOID:0110120 Axenfeld-Rieger syndrome type 1 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: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: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: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: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: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: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: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:0110212 DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 Disease_Ontology DOID:0110213 DOID:0110213 isolated cleft 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: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:0110235 DOID:0110235 cataract 2 multiple types Disease_Ontology DOID:0110236 DOID:0110236 cataract 39 multiple types Disease_Ontology DOID:0110238 DOID:0110238 cataract 18 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:0110245 DOID:0110245 cataract 38 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:0110253 DOID:0110253 cataract 14 multiple types Disease_Ontology DOID:0110255 DOID:0110255 cataract 5 multiple types Disease_Ontology DOID:0110256 DOID:0110256 cataract 21 multiple types Disease_Ontology DOID:0110258 DOID:0110258 cataract 10 multiple types Disease_Ontology DOID:0110259 DOID:0110259 cataract 43 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: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: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: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: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:0110297 DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K Disease_Ontology DOID:0110299 DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I Disease_Ontology DOID:0110304 DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 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: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:0110342 DOID:0110342 osteogenesis imperfecta type 13 Disease_Ontology DOID:0110343 DOID:0110343 osteogenesis imperfecta type 14 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: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: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: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:0110401 DOID:0110401 retinitis pigmentosa 74 Disease_Ontology DOID:0110403 DOID:0110403 retinitis pigmentosa 13 Disease_Ontology DOID:0110404 DOID:0110404 retinitis pigmentosa 17 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: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:0110419 DOID:0110419 retinitis pigmentosa with or without situs inversus 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: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: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: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: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: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:0110615 DOID:0110615 primary ciliary dyskinesia 25 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: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:0110635 DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 Disease_Ontology DOID:0110637 DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 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: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: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: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:0110700 DOID:0110700 hypotrichosis 3 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: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:0110721 DOID:0110721 neuronal ceroid lipofuscinosis 1 Disease_Ontology DOID:0110722 DOID:0110722 neuronal ceroid lipofuscinosis 7 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:0110731 DOID:0110731 neuronal ceroid lipofuscinosis 3 Disease_Ontology DOID:0110732 DOID:0110732 neuronal ceroid lipofuscinosis 11 Disease_Ontology DOID:0110734 DOID:0110734 neurodegeneration with brain iron accumulation 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:0110749 DOID:0110749 type 1 diabetes mellitus 10 Disease_Ontology DOID:0110754 DOID:0110754 type 1 diabetes mellitus 17 Disease_Ontology DOID:0110757 DOID:0110757 type 1 diabetes mellitus 20 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:0110768 DOID:0110768 hereditary spastic paraplegia 15 Disease_Ontology DOID:0110770 DOID:0110770 hereditary spastic paraplegia 17 Disease_Ontology DOID:0110771 DOID:0110771 hereditary spastic paraplegia 18 Disease_Ontology DOID:0110773 DOID:0110773 hereditary spastic paraplegia 2 Disease_Ontology DOID:0110774 DOID:0110774 hereditary spastic paraplegia 23 Disease_Ontology DOID:0110777 DOID:0110777 hereditary spastic paraplegia 26 Disease_Ontology DOID:0110779 DOID:0110779 hereditary spastic paraplegia 28 Disease_Ontology DOID:0110781 DOID:0110781 hereditary spastic paraplegia 30 Disease_Ontology DOID:0110782 DOID:0110782 hereditary spastic paraplegia 31 Disease_Ontology DOID:0110784 DOID:0110784 hereditary spastic paraplegia 33 Disease_Ontology DOID:0110786 DOID:0110786 hereditary spastic paraplegia 35 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:0110794 DOID:0110794 hereditary spastic paraplegia 42 Disease_Ontology DOID:0110795 DOID:0110795 hereditary spastic paraplegia 43 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: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: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: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: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:0110834 DOID:0110834 Usher syndrome type 1G 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:0110857 DOID:0110857 posterior polymorphous corneal dystrophy 3 Disease_Ontology DOID:0110859 DOID:0110859 polycystic kidney disease 2 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: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:0110880 DOID:0110880 holoprosencephaly 4 Disease_Ontology DOID:0110881 DOID:0110881 holoprosencephaly 1 Disease_Ontology DOID:0110885 DOID:0110885 inflammatory bowel disease 10 Disease_Ontology DOID:0110889 DOID:0110889 inflammatory bowel disease 5 Disease_Ontology DOID:0110892 DOID:0110892 inflammatory bowel disease 1 Disease_Ontology DOID:0110893 DOID:0110893 inflammatory bowel disease 13 Disease_Ontology DOID:0110899 DOID:0110899 inflammatory bowel disease 28 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: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: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:0110934 DOID:0110934 nemaline myopathy 7 Disease_Ontology DOID:0110935 DOID:0110935 nemaline myopathy 6 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: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: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: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:0110964 DOID:0110964 brachydactyly type A1 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: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: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:0110989 DOID:0110989 Joubert syndrome 20 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: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:0111007 DOID:0111007 X-linked cone-rod dystrophy 3 Disease_Ontology DOID:0111008 DOID:0111008 X-linked 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:0111016 DOID:0111016 cone-rod dystrophy 13 Disease_Ontology DOID:0111017 DOID:0111017 cone-rod dystrophy 10 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: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:0111034 DOID:0111034 hemochromatosis type 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: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: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:0111073 DOID:0111073 progressive familial heart block 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: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: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: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:0111147 DOID:0111147 angioimmunoblastic T-cell lymphoma Disease_Ontology DOID:0111148 DOID:0111148 isolated ectopia lentis Disease_Ontology DOID:0111155 DOID:0111155 autosomal recessive spinocerebellar ataxia 21 Disease_Ontology DOID:0111156 DOID:0111156 spermatogenic failure 9 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:0111165 DOID:0111165 molybdenum cofactor deficiency 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: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: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:0111195 DOID:0111195 erythrokeratodermia variabilis et progressiva 1 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: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:0111243 DOID:0111243 acromicric dysplasia Disease_Ontology DOID:0111244 DOID:0111244 palmoplantar keratoderma and congenital alopecia 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:0111251 DOID:0111251 Parkinson's disease 21 Disease_Ontology DOID:0111255 DOID:0111255 McKusick-Kaufman syndrome Disease_Ontology DOID:0111256 DOID:0111256 hyperferritinemia-cataract syndrome 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: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: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: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: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:0111329 DOID:0111329 pyridoxamine 5'-phosphate oxidase 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: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: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: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:0111348 DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness Disease_Ontology DOID:0111350 DOID:0111350 Laurin-Sandrow syndrome 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:0111362 DOID:0111362 hawkinsinuria Disease_Ontology DOID:0111363 DOID:0111363 Heinz body anemia Disease_Ontology DOID:0111365 DOID:0111365 benign familial hematuria 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:0111374 DOID:0111374 selective pituitary thyroid hormone resistance Disease_Ontology DOID:0111375 DOID:0111375 fetal akinesia deformation sequence syndrome Disease_Ontology DOID:0111381 DOID:0111381 IVIC syndrome Disease_Ontology DOID:0111383 DOID:0111383 autosomal dominant keratitis Disease_Ontology DOID:0111396 DOID:0111396 congenital dyserythropoietic anemia type I 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: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: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: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:0111418 DOID:0111418 familial apolipoprotein C-II deficiency Disease_Ontology DOID:0111423 DOID:0111423 branchiootorenal syndrome 1 Disease_Ontology DOID:0111424 DOID:0111424 branchiootorenal syndrome 2 Disease_Ontology DOID:0111436 DOID:0111436 optic atrophy 11 Disease_Ontology DOID:0111438 DOID:0111438 optic atrophy 5 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: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: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:0111468 DOID:0111468 combined oxidative phosphorylation deficiency 25 Disease_Ontology DOID:0111469 DOID:0111469 combined oxidative phosphorylation deficiency 16 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:0111477 DOID:0111477 combined oxidative phosphorylation deficiency 14 Disease_Ontology DOID:0111480 DOID:0111480 combined oxidative phosphorylation deficiency 10 Disease_Ontology DOID:0111482 DOID:0111482 combined oxidative phosphorylation deficiency 36 Disease_Ontology DOID:0111484 DOID:0111484 combined oxidative phosphorylation deficiency 18 Disease_Ontology DOID:0111486 DOID:0111486 combined oxidative phosphorylation deficiency 3 Disease_Ontology DOID:0111488 DOID:0111488 combined oxidative phosphorylation deficiency 31 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: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: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: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: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:0111514 DOID:0111514 metatropic dysplasia Disease_Ontology DOID:0111519 DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 Disease_Ontology DOID:0111526 DOID:0111526 Mullerian aplasia and hyperandrogenism 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: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: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:0111542 DOID:0111542 familial expansile osteolysis Disease_Ontology DOID:0111543 DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 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: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: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: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:0111565 DOID:0111565 trichodontoosseous syndrome 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:0111573 DOID:0111573 autosomal dominant woolly hair Disease_Ontology DOID:0111575 DOID:0111575 dehydrated hereditary stomatocytosis 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:0111594 DOID:0111594 distal arthrogryposis type 5D Disease_Ontology DOID:0111595 DOID:0111595 congenital contractural arachnodactyly Disease_Ontology DOID:0111599 DOID:0111599 distal arthrogryposis type 2B Disease_Ontology DOID:0111600 DOID:0111600 distal arthrogryposis type 2B1 Disease_Ontology DOID:0111603 DOID:0111603 distal arthrogryposis type 7 Disease_Ontology DOID:0111604 DOID:0111604 Freeman-Sheldon syndrome Disease_Ontology DOID:0111607 DOID:0111607 distal arthrogryposis type 3 Disease_Ontology DOID:0111608 DOID:0111608 distal arthrogryposis type 5 Disease_Ontology DOID:0111611 DOID:0111611 autosomal recessive spinocerebellar ataxia 4 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:0111633 DOID:0111633 congenital sucrase-isomaltase deficiency 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: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: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:0111656 DOID:0111656 ectodermal dysplasia 9 Disease_Ontology DOID:0111658 DOID:0111658 ectodermal dysplasia 4 Disease_Ontology DOID:0111660 DOID:0111660 ectodermal dysplasia 7 Disease_Ontology DOID:0111662 DOID:0111662 ectodermal dysplasia 14 Disease_Ontology DOID:0111663 DOID:0111663 ectodermal dysplasia 10A 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: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: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:0111683 DOID:0111683 neurofibromatosis-Noonan syndrome Disease_Ontology DOID:0111684 DOID:0111684 hereditary mixed polyposis syndrome 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:0111697 DOID:0111697 cleft palate, cardiac defects, and intellectual disability Disease_Ontology DOID:0111699 DOID:0111699 Van den Ende-Gupta syndrome 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:0111708 DOID:0111708 focal nonepidermolytic palmoplantar keratoderma Disease_Ontology DOID:0111715 DOID:0111715 Schaaf-Yang syndrome Disease_Ontology DOID:0111717 DOID:0111717 isolated cryptophthalmia Disease_Ontology DOID:0111722 DOID:0111722 amelogenesis imperfecta type 3C 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: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:0111738 DOID:0111738 X-linked deafness 7 Disease_Ontology DOID:0111743 DOID:0111743 cerebellar ataxia type 47 Disease_Ontology DOID:0111754 DOID:0111754 Leber plus disease Disease_Ontology DOID:0111755 DOID:0111755 Leber hereditary optic neuropathy and dystonia Disease_Ontology DOID:0111760 DOID:0111760 46,XX sex reversal Disease_Ontology DOID:0111761 DOID:0111761 46,XX sex reversal 1 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:0111769 DOID:0111769 46,XY sex reversal 6 Disease_Ontology DOID:0111770 DOID:0111770 46,XY sex reversal 9 Disease_Ontology DOID:0111772 DOID:0111772 46,XY sex reversal 3 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: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: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:0111797 DOID:0111797 autosomal recessive congenital nystagmus Disease_Ontology DOID:0111801 DOID:0111801 syndromic microphthalmia 3 Disease_Ontology DOID:0111802 DOID:0111802 syndromic microphthalmia 14 Disease_Ontology DOID:0111805 DOID:0111805 syndromic microphthalmia 6 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: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:0111821 DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 Disease_Ontology DOID:0111822 DOID:0111822 CHILD syndrome Disease_Ontology DOID:0111824 DOID:0111824 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:0111829 DOID:0111829 X-linked spinocerebellar ataxia 1 Disease_Ontology DOID:0111834 DOID:0111834 X-linked reticulate pigmentary disorder 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: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:0111859 DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Disease_Ontology DOID:0111861 DOID:0111861 Meester-Loeys syndrome Disease_Ontology DOID:0111862 DOID:0111862 congenital bilateral absence of vas deferens Disease_Ontology DOID:0111866 DOID:0111866 trichothiodystrophy 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: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: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: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:0111907 DOID:0111907 thrombophilia due to thrombin defect 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: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:0111923 DOID:0111923 spermatogenic failure 42 Disease_Ontology DOID:0111924 DOID:0111924 spermatogenic failure 26 Disease_Ontology DOID:0111926 DOID:0111926 spermatogenic failure 39 Disease_Ontology DOID:0111928 DOID:0111928 spermatogenic failure 27 Disease_Ontology DOID:0111929 DOID:0111929 spermatogenic failure 24 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:0111939 DOID:0111939 immunodeficiency 37 Disease_Ontology DOID:0111940 DOID:0111940 immunodeficiency 42 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:0111960 DOID:0111960 immunodeficiency 15A Disease_Ontology DOID:0111961 DOID:0111961 immunodeficiency 26 Disease_Ontology DOID:0111962 DOID:0111962 combined immunodeficiency 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:0111976 DOID:0111976 immunodeficiency 9 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: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:0111988 DOID:0111988 immunodeficiency 12 Disease_Ontology DOID:0111989 DOID:0111989 immunodeficiency 35 Disease_Ontology DOID:0111991 DOID:0111991 immunodeficiency 62 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:0112008 DOID:0112008 pituitary adenoma 5 Disease_Ontology DOID:0112010 DOID:0112010 pituitary adenoma 3 Disease_Ontology DOID:0112013 DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques Disease_Ontology DOID:0112015 DOID:0112015 immunodeficiency 72 Disease_Ontology DOID:0112042 DOID:0112042 Tonne-Kalscheuer syndrome Disease_Ontology DOID:0112056 DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome 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:0112064 DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis Disease_Ontology DOID:0112072 DOID:0112072 nuclear type mitochondrial complex I deficiency 20 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: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: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:0112123 DOID:0112123 deafness, dystonia, and cerebral hypomyelination Disease_Ontology DOID:0112125 DOID:0112125 alpha-thalassemia myelodysplasia syndrome 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: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:0112137 DOID:0112137 combined oxidative phosphorylation deficiency 51 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:0112154 DOID:0112154 inflammatory bowel disease 30 Disease_Ontology DOID:0112155 DOID:0112155 inflammatory bowel disease 29 Disease_Ontology DOID:0112158 DOID:0112158 De Sanctis-Cacchione syndrome Disease_Ontology DOID:0112161 DOID:0112161 Noonan syndrome 13 Disease_Ontology DOID:0112163 DOID:0112163 spermatogenic failure 45 Disease_Ontology DOID:0112164 DOID:0112164 spermatogenic failure 46 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: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:0112180 DOID:0112180 urocanase deficiency Disease_Ontology DOID:0112182 DOID:0112182 mismatch repair cancer syndrome Disease_Ontology DOID:0112183 DOID:0112183 familial thyroid dyshormonogenesis Disease_Ontology DOID:0112185 DOID:0112185 thyroid dyshormonogenesis 1 Disease_Ontology DOID:0112189 DOID:0112189 thyroid dyshormonogenesis 6 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:0112198 DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 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: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: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:0112231 DOID:0112231 lissencephaly 7 with cerebellar hypoplasia 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: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:0112242 DOID:0112242 congenital symmetric circumferential skin creases 1 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:0112249 DOID:0112249 GAPO syndrome Disease_Ontology DOID:0112250 DOID:0112250 Gaucher's disease type IIIC 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:0112257 DOID:0112257 hydroxykynureninuria Disease_Ontology DOID:0112258 DOID:0112258 N-acetylglutamate synthase deficiency 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:0112271 DOID:0112271 spermatogenic failure 49 Disease_Ontology DOID:0112272 DOID:0112272 spermatogenic failure 50 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: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: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:0112299 DOID:0112299 axial spondylometaphyseal dysplasia Disease_Ontology DOID:0112300 DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy Disease_Ontology DOID:0112303 DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy Disease_Ontology DOID:0112306 DOID:0112306 Mahvash Disease Disease_Ontology DOID:0112308 DOID:0112308 central precocious puberty Disease_Ontology DOID:0112310 DOID:0112310 central precocious puberty 1 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: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: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:0112336 DOID:0112336 spermatogenic failure 56 Disease_Ontology DOID:0112337 DOID:0112337 spermatogenic failure 55 Disease_Ontology DOID:0112339 DOID:0112339 Tatton-Brown-Rahman syndrome 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: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:0112356 DOID:0112356 spermatogenic failure 63 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: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:0112374 DOID:0112374 muscular dystrophy-dystroglycanopathy Disease_Ontology DOID:0112381 DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 Disease_Ontology DOID:0112383 DOID:0112383 KINSSHIP syndrome Disease_Ontology DOID:10003 DOID:10003 sensorineural hearing loss 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:10021 DOID:10021 duodenum cancer Disease_Ontology DOID:10024 DOID:10024 migraine with aura Disease_Ontology DOID:10126 DOID:10126 keratoconus Disease_Ontology DOID:10155 DOID:10155 intestinal cancer Disease_Ontology DOID:10241 DOID:10241 thalassemia Disease_Ontology DOID:10283 DOID:10283 prostate cancer Disease_Ontology DOID:1029 DOID:1029 familial periodic paralysis Disease_Ontology DOID:10348 DOID:10348 blepharophimosis Disease_Ontology DOID:10383 DOID:10383 amyotrophic neuralgia Disease_Ontology DOID:1040 DOID:1040 chronic lymphocytic leukemia Disease_Ontology DOID:10426 DOID:10426 Klippel-Feil syndrome Disease_Ontology DOID:10485 DOID:10485 esophageal atresia Disease_Ontology DOID:10487 DOID:10487 Hirschsprung's disease Disease_Ontology DOID:10534 DOID:10534 stomach cancer Disease_Ontology DOID:1056 DOID:1056 oculocerebrorenal syndrome 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:10591 DOID:10591 pre-eclampsia Disease_Ontology DOID:10595 DOID:10595 Charcot-Marie-Tooth disease Disease_Ontology DOID:1060 DOID:1060 Hartnup disease Disease_Ontology DOID:10604 DOID:10604 lactose intolerance Disease_Ontology DOID:10608 DOID:10608 celiac disease Disease_Ontology DOID:10609 DOID:10609 rickets Disease_Ontology DOID:1062 DOID:1062 Fanconi syndrome Disease_Ontology DOID:10629 DOID:10629 microphthalmia Disease_Ontology DOID:10632 DOID:10632 Wolfram syndrome Disease_Ontology DOID:1064 DOID:1064 cystinosis Disease_Ontology DOID:10652 DOID:10652 Alzheimer's disease Disease_Ontology DOID:1067 DOID:1067 open-angle glaucoma Disease_Ontology DOID:1068 DOID:1068 juvenile glaucoma Disease_Ontology DOID:1070 DOID:1070 primary open angle glaucoma Disease_Ontology DOID:1074 DOID:1074 kidney failure Disease_Ontology DOID:10754 DOID:10754 otitis media 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:10780 DOID:10780 primary polycythemia Disease_Ontology DOID:10783 DOID:10783 methemoglobinemia Disease_Ontology DOID:10816 DOID:10816 duodenum adenocarcinoma Disease_Ontology DOID:10825 DOID:10825 essential hypertension Disease_Ontology DOID:10871 DOID:10871 age related macular degeneration Disease_Ontology DOID:10892 DOID:10892 hypospadias Disease_Ontology DOID:10907 DOID:10907 microcephaly Disease_Ontology DOID:10908 DOID:10908 hydrocephalus Disease_Ontology DOID:10923 DOID:10923 sickle cell anemia Disease_Ontology DOID:10933 DOID:10933 obsessive-compulsive disorder Disease_Ontology DOID:1094 DOID:1094 attention deficit hyperactivity disorder Disease_Ontology DOID:10941 DOID:10941 intracranial aneurysm 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:10969 DOID:10969 hemiplegia Disease_Ontology DOID:10970 DOID:10970 spastic quadriplegic cerebral palsy Disease_Ontology DOID:10983 DOID:10983 Alport syndrome Disease_Ontology DOID:1099 DOID:1099 alpha thalassemia Disease_Ontology DOID:11054 DOID:11054 urinary bladder cancer Disease_Ontology DOID:1107 DOID:1107 esophageal carcinoma 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:1115 DOID:1115 sarcoma Disease_Ontology DOID:11162 DOID:11162 respiratory failure Disease_Ontology DOID:11193 DOID:11193 syndactyly Disease_Ontology DOID:11198 DOID:11198 DiGeorge syndrome Disease_Ontology DOID:11199 DOID:11199 hypoparathyroidism Disease_Ontology DOID:11200 DOID:11200 T cell deficiency Disease_Ontology DOID:11202 DOID:11202 primary hyperparathyroidism Disease_Ontology DOID:11252 DOID:11252 microcytic anemia Disease_Ontology DOID:11294 DOID:11294 arteriovenous malformation Disease_Ontology DOID:11372 DOID:11372 megacolon Disease_Ontology DOID:11383 DOID:11383 cryptorchidism Disease_Ontology DOID:114 DOID:114 heart disease Disease_Ontology DOID:11476 DOID:11476 osteoporosis Disease_Ontology DOID:1148 DOID:1148 polydactyly Disease_Ontology DOID:11512 DOID:11512 Budd-Chiari syndrome Disease_Ontology DOID:11514 DOID:11514 fissured tongue Disease_Ontology DOID:11555 DOID:11555 Fuchs' endothelial dystrophy Disease_Ontology DOID:11569 DOID:11569 neurocirculatory asthenia Disease_Ontology DOID:11589 DOID:11589 familial dysautonomia Disease_Ontology DOID:11633 DOID:11633 thyroid hormone resistance syndrome Disease_Ontology DOID:1171 DOID:1171 hyperlipoproteinemia type V Disease_Ontology DOID:11714 DOID:11714 gestational diabetes Disease_Ontology DOID:11717 DOID:11717 neonatal diabetes mellitus Disease_Ontology DOID:11719 DOID:11719 oculopharyngeal muscular dystrophy Disease_Ontology DOID:11720 DOID:11720 distal myopathy Disease_Ontology DOID:11721 DOID:11721 glycogen storage disease VII 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:11758 DOID:11758 iron deficiency anemia Disease_Ontology DOID:11830 DOID:11830 myopia Disease_Ontology DOID:11836 DOID:11836 clubfoot Disease_Ontology DOID:1184 DOID:1184 nephrotic syndrome Disease_Ontology DOID:11870 DOID:11870 Pick's disease Disease_Ontology DOID:11934 DOID:11934 head and neck cancer Disease_Ontology DOID:11949 DOID:11949 Creutzfeldt-Jakob disease Disease_Ontology DOID:11975 DOID:11975 coloboma of optic nerve 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:11991 DOID:11991 osteopoikilosis Disease_Ontology DOID:12028 DOID:12028 Conn's syndrome Disease_Ontology DOID:1206 DOID:1206 Rett syndrome Disease_Ontology DOID:12117 DOID:12117 pulmonary alveolar microlithiasis Disease_Ontology DOID:12120 DOID:12120 pulmonary alveolar proteinosis Disease_Ontology DOID:12132 DOID:12132 granulomatosis with polyangiitis Disease_Ontology DOID:12134 DOID:12134 factor VIII deficiency Disease_Ontology DOID:12169 DOID:12169 carpal tunnel syndrome Disease_Ontology DOID:12177 DOID:12177 common variable immunodeficiency Disease_Ontology DOID:12192 DOID:12192 sigmoid colon cancer Disease_Ontology DOID:12217 DOID:12217 Lewy body dementia Disease_Ontology DOID:12236 DOID:12236 primary biliary cholangitis Disease_Ontology DOID:12241 DOID:12241 beta thalassemia Disease_Ontology DOID:12259 DOID:12259 hemophilia B Disease_Ontology DOID:12270 DOID:12270 coloboma Disease_Ontology DOID:12271 DOID:12271 aniridia Disease_Ontology DOID:12305 DOID:12305 Bloch-Sulzberger syndrome Disease_Ontology DOID:12308 DOID:12308 Dubin-Johnson syndrome Disease_Ontology DOID:12318 DOID:12318 granular corneal dystrophy Disease_Ontology DOID:12336 DOID:12336 male infertility Disease_Ontology DOID:12347 DOID:12347 osteogenesis imperfecta Disease_Ontology DOID:12376 DOID:12376 juvenile spinal muscular atrophy Disease_Ontology DOID:12377 DOID:12377 spinal muscular atrophy Disease_Ontology DOID:12387 DOID:12387 nephrogenic diabetes insipidus Disease_Ontology DOID:12388 DOID:12388 neurohypophyseal diabetes insipidus Disease_Ontology DOID:1240 DOID:1240 leukemia Disease_Ontology DOID:12445 DOID:12445 conjugate gaze palsy Disease_Ontology DOID:12449 DOID:12449 aplastic anemia Disease_Ontology DOID:12450 DOID:12450 pancytopenia Disease_Ontology DOID:12466 DOID:12466 secondary hyperparathyroidism Disease_Ontology DOID:12531 DOID:12531 von Willebrand's disease Disease_Ontology DOID:12554 DOID:12554 hemolytic-uremic syndrome Disease_Ontology DOID:12557 DOID:12557 Duane retraction syndrome Disease_Ontology DOID:12558 DOID:12558 chronic progressive external ophthalmoplegia Disease_Ontology DOID:12583 DOID:12583 velocardiofacial syndrome Disease_Ontology DOID:12642 DOID:12642 hiatus hernia Disease_Ontology DOID:12678 DOID:12678 hypercalcemia Disease_Ontology DOID:12679 DOID:12679 nephrocalcinosis Disease_Ontology DOID:12689 DOID:12689 acoustic neuroma Disease_Ontology DOID:1270 DOID:1270 hereditary hemorrhagic telangiectasia Disease_Ontology DOID:12704 DOID:12704 ataxia telangiectasia Disease_Ontology DOID:12705 DOID:12705 Friedreich ataxia 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:1272 DOID:1272 telangiectasis Disease_Ontology DOID:12721 DOID:12721 multiple epiphyseal dysplasia Disease_Ontology DOID:1279 DOID:1279 ocular motility disease Disease_Ontology DOID:12798 DOID:12798 mucopolysaccharidosis Disease_Ontology DOID:12799 DOID:12799 mucopolysaccharidosis II Disease_Ontology DOID:12802 DOID:12802 mucopolysaccharidosis I Disease_Ontology DOID:12849 DOID:12849 autistic disorder Disease_Ontology DOID:12858 DOID:12858 Huntington's disease Disease_Ontology DOID:12859 DOID:12859 choreatic disease Disease_Ontology DOID:12894 DOID:12894 Sjogren's syndrome Disease_Ontology DOID:12929 DOID:12929 endocardial fibroelastosis Disease_Ontology DOID:12930 DOID:12930 dilated cardiomyopathy Disease_Ontology DOID:12971 DOID:12971 hereditary spherocytosis Disease_Ontology DOID:13025 DOID:13025 retinopathy of prematurity Disease_Ontology DOID:1307 DOID:1307 dementia Disease_Ontology DOID:13096 DOID:13096 Sneddon syndrome Disease_Ontology DOID:13099 DOID:13099 Moyamoya disease Disease_Ontology DOID:1312 DOID:1312 focal segmental glomerulosclerosis Disease_Ontology DOID:13137 DOID:13137 Werdnig-Hoffmann disease Disease_Ontology DOID:1319 DOID:1319 brain cancer Disease_Ontology DOID:13223 DOID:13223 uterine fibroid Disease_Ontology DOID:1324 DOID:1324 lung cancer Disease_Ontology DOID:13241 DOID:13241 Behcet's disease Disease_Ontology DOID:13250 DOID:13250 diarrhea 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:13317 DOID:13317 hyperinsulinemic hypoglycemia Disease_Ontology DOID:13359 DOID:13359 Ehlers-Danlos syndrome Disease_Ontology DOID:13372 DOID:13372 alpha 1-antitrypsin deficiency Disease_Ontology DOID:13374 DOID:13374 fibrodysplasia ossificans progressiva Disease_Ontology DOID:1338 DOID:1338 congenital dyserythropoietic anemia Disease_Ontology DOID:13382 DOID:13382 megaloblastic anemia Disease_Ontology DOID:1339 DOID:1339 Diamond-Blackfan anemia Disease_Ontology DOID:13481 DOID:13481 thanatophoric dysplasia Disease_Ontology DOID:13482 DOID:13482 Proteus syndrome Disease_Ontology DOID:13501 DOID:13501 Moebius syndrome Disease_Ontology DOID:13507 DOID:13507 trigonitis Disease_Ontology DOID:13515 DOID:13515 tuberous sclerosis Disease_Ontology DOID:13533 DOID:13533 osteopetrosis Disease_Ontology DOID:13543 DOID:13543 hyperparathyroidism Disease_Ontology DOID:13580 DOID:13580 cholestasis Disease_Ontology DOID:13636 DOID:13636 Fanconi anemia Disease_Ontology DOID:13641 DOID:13641 exfoliation syndrome Disease_Ontology DOID:13774 DOID:13774 Addison's disease Disease_Ontology DOID:13777 DOID:13777 epidermodysplasia verruciformis Disease_Ontology DOID:1380 DOID:1380 endometrial cancer Disease_Ontology DOID:13810 DOID:13810 familial hypercholesterolemia Disease_Ontology DOID:13832 DOID:13832 patent ductus arteriosus Disease_Ontology DOID:1386 DOID:1386 abetalipoproteinemia 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:1390 DOID:1390 hypobetalipoproteinemia Disease_Ontology DOID:1391 DOID:1391 Norum disease Disease_Ontology DOID:13911 DOID:13911 achromatopsia Disease_Ontology DOID:13938 DOID:13938 amenorrhea Disease_Ontology DOID:13994 DOID:13994 cleidocranial dysplasia Disease_Ontology DOID:14004 DOID:14004 thoracic aortic aneurysm Disease_Ontology DOID:14040 DOID:14040 autoimmune polyendocrine syndrome Disease_Ontology DOID:14080 DOID:14080 glucocorticoid-remediable aldosteronism Disease_Ontology DOID:14116 DOID:14116 multiple symmetric lipomatosis Disease_Ontology DOID:14175 DOID:14175 von Hippel-Lindau disease Disease_Ontology DOID:14179 DOID:14179 X-linked agammaglobulinemia 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:14227 DOID:14227 azoospermia Disease_Ontology DOID:14228 DOID:14228 oligospermia Disease_Ontology DOID:14250 DOID:14250 Down syndrome Disease_Ontology DOID:14261 DOID:14261 fragile X syndrome Disease_Ontology DOID:14264 DOID:14264 benign neonatal seizures Disease_Ontology DOID:14268 DOID:14268 sclerosing cholangitis Disease_Ontology DOID:14283 DOID:14283 primary hypertrophic osteoarthropathy Disease_Ontology DOID:14289 DOID:14289 Ebstein anomaly Disease_Ontology DOID:14291 DOID:14291 Noonan syndrome with multiple lentigines Disease_Ontology DOID:1432 DOID:1432 blindness Disease_Ontology DOID:14323 DOID:14323 Marfan syndrome Disease_Ontology DOID:14330 DOID:14330 Parkinson's disease Disease_Ontology DOID:14365 DOID:14365 systemic primary carnitine deficiency disease Disease_Ontology DOID:14400 DOID:14400 capillary leak syndrome Disease_Ontology DOID:1441 DOID:1441 autosomal dominant cerebellar ataxia Disease_Ontology DOID:14415 DOID:14415 Legg-Calve-Perthes disease Disease_Ontology DOID:14447 DOID:14447 gonadal dysgenesis Disease_Ontology DOID:14448 DOID:14448 46,XY complete 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: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:14503 DOID:14503 neuronal ceroid lipofuscinosis Disease_Ontology DOID:14504 DOID:14504 Niemann-Pick disease Disease_Ontology DOID:14515 DOID:14515 WAGR syndrome Disease_Ontology DOID:14557 DOID:14557 primary pulmonary hypertension Disease_Ontology DOID:14566 DOID:14566 disease of cellular proliferation Disease_Ontology DOID:1459 DOID:1459 hypothyroidism Disease_Ontology DOID:14669 DOID:14669 acrodysostosis Disease_Ontology DOID:14671 DOID:14671 multiple intestinal atresia 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:14694 DOID:14694 Johanson-Blizzard syndrome 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:14731 DOID:14731 Weaver syndrome Disease_Ontology DOID:14735 DOID:14735 hereditary angioedema Disease_Ontology DOID:14737 DOID:14737 craniofrontonasal syndrome 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:14761 DOID:14761 Greig cephalopolysyndactyly syndrome 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:14778 DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome Disease_Ontology DOID:14780 DOID:14780 KBG syndrome 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:1485 DOID:1485 cystic fibrosis Disease_Ontology DOID:150 DOID:150 disease of mental health Disease_Ontology DOID:1508 DOID:1508 candidiasis Disease_Ontology DOID:1520 DOID:1520 colon carcinoma Disease_Ontology DOID:1540 DOID:1540 parathyroid carcinoma Disease_Ontology DOID:1554 DOID:1554 vibratory urticaria Disease_Ontology DOID:1558 DOID:1558 angioedema Disease_Ontology DOID:1588 DOID:1588 thrombocytopenia Disease_Ontology DOID:1596 DOID:1596 depressive disorder Disease_Ontology DOID:1612 DOID:1612 breast cancer Disease_Ontology DOID:162 DOID:162 cancer Disease_Ontology DOID:1664 DOID:1664 pineoblastoma Disease_Ontology DOID:1682 DOID:1682 congenital heart disease Disease_Ontology DOID:1686 DOID:1686 glaucoma Disease_Ontology DOID:169 DOID:169 neuroendocrine tumor Disease_Ontology DOID:1697 DOID:1697 ichthyosis Disease_Ontology DOID:1702 DOID:1702 ichthyosis vulgaris Disease_Ontology DOID:1712 DOID:1712 aortic valve stenosis Disease_Ontology DOID:1725 DOID:1725 peritoneum cancer Disease_Ontology DOID:1749 DOID:1749 squamous cell carcinoma Disease_Ontology DOID:1752 DOID:1752 ocular melanoma Disease_Ontology DOID:1781 DOID:1781 thyroid cancer Disease_Ontology DOID:1787 DOID:1787 pericarditis Disease_Ontology DOID:1791 DOID:1791 peritoneal carcinoma Disease_Ontology DOID:1793 DOID:1793 pancreatic cancer Disease_Ontology DOID:1798 DOID:1798 pancreatic endocrine carcinoma 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:1838 DOID:1838 Menkes disease Disease_Ontology DOID:184 DOID:184 bone cancer Disease_Ontology DOID:1852 DOID:1852 intrahepatic cholestasis Disease_Ontology DOID:1858 DOID:1858 McCune Albright syndrome Disease_Ontology DOID:1882 DOID:1882 atrial heart septal defect Disease_Ontology DOID:1891 DOID:1891 optic nerve disease Disease_Ontology DOID:1907 DOID:1907 malignant fibrous histiocytoma Disease_Ontology DOID:1909 DOID:1909 melanoma Disease_Ontology DOID:1911 DOID:1911 endodermal sinus tumor Disease_Ontology DOID:1919 DOID:1919 Lesch-Nyhan syndrome 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:1930 DOID:1930 Laurence-Moon syndrome Disease_Ontology DOID:1932 DOID:1932 Angelman syndrome Disease_Ontology DOID:1933 DOID:1933 Rubinstein-Taybi syndrome Disease_Ontology DOID:1935 DOID:1935 Bardet-Biedl syndrome Disease_Ontology DOID:1936 DOID:1936 atherosclerosis Disease_Ontology DOID:1967 DOID:1967 leiomyosarcoma Disease_Ontology DOID:1969 DOID:1969 cerebral palsy Disease_Ontology DOID:1996 DOID:1996 rectum adenocarcinoma Disease_Ontology DOID:2018 DOID:2018 hyperinsulinism Disease_Ontology DOID:2025 DOID:2025 gestational choriocarcinoma Disease_Ontology DOID:2030 DOID:2030 anxiety disorder Disease_Ontology DOID:2055 DOID:2055 post-traumatic stress disorder Disease_Ontology DOID:2058 DOID:2058 chronic mucocutaneous candidiasis Disease_Ontology DOID:206 DOID:206 hereditary multiple exostoses Disease_Ontology DOID:2106 DOID:2106 myotonia congenita Disease_Ontology DOID:2120 DOID:2120 focal dermal hypoplasia Disease_Ontology DOID:2121 DOID:2121 ectodermal dysplasia Disease_Ontology DOID:2129 DOID:2129 atypical teratoid rhabdoid tumor Disease_Ontology DOID:2154 DOID:2154 nephroblastoma Disease_Ontology DOID:2155 DOID:2155 malignant ovarian germ cell neoplasm Disease_Ontology DOID:218 DOID:218 ascending colon cancer Disease_Ontology DOID:2187 DOID:2187 amelogenesis imperfecta Disease_Ontology DOID:219 DOID:219 colon cancer Disease_Ontology DOID:2211 DOID:2211 factor XIII deficiency 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:2222 DOID:2222 factor X 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: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:2256 DOID:2256 osteochondrodysplasia Disease_Ontology DOID:231 DOID:231 motor neuron disease 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:2349 DOID:2349 arteriosclerosis Disease_Ontology DOID:2352 DOID:2352 hemochromatosis Disease_Ontology DOID:2355 DOID:2355 anemia 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:2394 DOID:2394 ovarian cancer Disease_Ontology DOID:2436 DOID:2436 glomangioma Disease_Ontology DOID:2451 DOID:2451 protein S deficiency Disease_Ontology DOID:2452 DOID:2452 thrombophilia Disease_Ontology DOID:2468 DOID:2468 psychotic disorder Disease_Ontology DOID:2476 DOID:2476 hereditary spastic paraplegia Disease_Ontology DOID:2491 DOID:2491 sensory peripheral neuropathy Disease_Ontology DOID:2512 DOID:2512 nevoid basal cell carcinoma syndrome Disease_Ontology DOID:2513 DOID:2513 basal cell carcinoma Disease_Ontology DOID:2526 DOID:2526 prostate adenocarcinoma Disease_Ontology DOID:2527 DOID:2527 nephrosis Disease_Ontology DOID:2531 DOID:2531 hematologic cancer Disease_Ontology DOID:2538 DOID:2538 Landau-Kleffner syndrome Disease_Ontology DOID:255 DOID:255 hemangioma Disease_Ontology DOID:2565 DOID:2565 macular corneal dystrophy Disease_Ontology DOID:2566 DOID:2566 corneal dystrophy Disease_Ontology DOID:2580 DOID:2580 rhizomelic 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:2596 DOID:2596 larynx cancer Disease_Ontology DOID:2626 DOID:2626 choroid plexus papilloma Disease_Ontology DOID:263 DOID:263 kidney cancer Disease_Ontology DOID:2661 DOID:2661 myoepithelioma Disease_Ontology DOID:2671 DOID:2671 transitional cell carcinoma Disease_Ontology DOID:2679 DOID:2679 dysembryoplastic neuroepithelial tumor Disease_Ontology DOID:2696 DOID:2696 Leydig cell tumor Disease_Ontology DOID:2717 DOID:2717 Bloom syndrome 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:2732 DOID:2732 Rothmund-Thomson syndrome 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: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:2750 DOID:2750 glycogen storage disease IV Disease_Ontology DOID:2752 DOID:2752 glycogen storage disease II Disease_Ontology DOID:2754 DOID:2754 glycogen storage disease VI Disease_Ontology DOID:2785 DOID:2785 Dandy-Walker syndrome Disease_Ontology DOID:2797 DOID:2797 idiopathic interstitial pneumonia Disease_Ontology DOID:2841 DOID:2841 asthma Disease_Ontology DOID:2843 DOID:2843 long QT syndrome Disease_Ontology DOID:2855 DOID:2855 hyperthyroxinemia Disease_Ontology DOID:2860 DOID:2860 hemoglobinopathy Disease_Ontology DOID:2861 DOID:2861 congenital nonspherocytic hemolytic anemia 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:289 DOID:289 endometriosis Disease_Ontology DOID:2891 DOID:2891 thyroid adenoma Disease_Ontology DOID:2908 DOID:2908 Treacher Collins syndrome Disease_Ontology DOID:2921 DOID:2921 glomerulonephritis Disease_Ontology DOID:2926 DOID:2926 Klippel-Trenaunay syndrome Disease_Ontology DOID:2935 DOID:2935 Chediak-Higashi syndrome Disease_Ontology DOID:2962 DOID:2962 Cockayne syndrome Disease_Ontology DOID:2975 DOID:2975 cystic kidney disease Disease_Ontology DOID:2977 DOID:2977 primary hyperoxaluria Disease_Ontology DOID:2986 DOID:2986 IgA glomerulonephritis Disease_Ontology DOID:2987 DOID:2987 familial Mediterranean fever Disease_Ontology DOID:299 DOID:299 adenocarcinoma Disease_Ontology DOID:2994 DOID:2994 germ cell cancer Disease_Ontology DOID:2997 DOID:2997 Sertoli-Leydig cell tumor Disease_Ontology DOID:2998 DOID:2998 testicular cancer Disease_Ontology DOID:3007 DOID:3007 breast ductal carcinoma Disease_Ontology DOID:3012 DOID:3012 Li-Fraumeni syndrome 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:3074 DOID:3074 giant cell glioblastoma Disease_Ontology DOID:3078 DOID:3078 anaplastic astrocytoma 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:3093 DOID:3093 nervous system cancer Disease_Ontology DOID:310 DOID:310 MERRF syndrome Disease_Ontology DOID:3113 DOID:3113 papillary carcinoma Disease_Ontology DOID:3121 DOID:3121 gallbladder cancer Disease_Ontology DOID:3125 DOID:3125 multiple endocrine neoplasia Disease_Ontology DOID:3132 DOID:3132 porphyria cutanea tarda Disease_Ontology DOID:3138 DOID:3138 acanthosis nigricans 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:3149 DOID:3149 keratoacanthoma Disease_Ontology DOID:3151 DOID:3151 skin squamous cell carcinoma Disease_Ontology DOID:3172 DOID:3172 papillary adenoma Disease_Ontology DOID:318 DOID:318 progressive muscular atrophy Disease_Ontology DOID:3181 DOID:3181 oligodendroglioma Disease_Ontology DOID:3191 DOID:3191 nemaline myopathy Disease_Ontology DOID:3192 DOID:3192 neurilemmoma Disease_Ontology DOID:3204 DOID:3204 schwannomatosis 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:3246 DOID:3246 embryonal rhabdomyosarcoma Disease_Ontology DOID:3247 DOID:3247 rhabdomyosarcoma Disease_Ontology DOID:3260 DOID:3260 spindle cell rhabdomyosarcoma Disease_Ontology DOID:3263 DOID:3263 piebaldism Disease_Ontology DOID:3265 DOID:3265 chronic granulomatous disease Disease_Ontology DOID:3275 DOID:3275 thymoma Disease_Ontology DOID:3277 DOID:3277 thymus cancer Disease_Ontology DOID:3284 DOID:3284 thymic carcinoma Disease_Ontology DOID:3302 DOID:3302 chordoma Disease_Ontology DOID:3304 DOID:3304 germinoma Disease_Ontology DOID:3305 DOID:3305 teratocarcinoma Disease_Ontology DOID:3307 DOID:3307 teratoma Disease_Ontology DOID:3310 DOID:3310 atopic dermatitis Disease_Ontology DOID:3312 DOID:3312 bipolar disorder Disease_Ontology DOID:3319 DOID:3319 lymphangioleiomyomatosis 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:3328 DOID:3328 temporal lobe epilepsy Disease_Ontology DOID:3329 DOID:3329 benign epilepsy with centrotemporal spikes Disease_Ontology DOID:3343 DOID:3343 glycoproteinosis Disease_Ontology DOID:3347 DOID:3347 osteosarcoma Disease_Ontology DOID:3355 DOID:3355 fibrosarcoma Disease_Ontology DOID:3369 DOID:3369 Ewing sarcoma Disease_Ontology DOID:3371 DOID:3371 chondrosarcoma Disease_Ontology DOID:3376 DOID:3376 bone osteosarcoma Disease_Ontology DOID:3389 DOID:3389 Papillon-Lefevre disease Disease_Ontology DOID:3390 DOID:3390 palmoplantar keratosis Disease_Ontology DOID:3393 DOID:3393 coronary artery disease Disease_Ontology DOID:3413 DOID:3413 alpha-mannosidosis Disease_Ontology DOID:3429 DOID:3429 inclusion body myositis 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:3490 DOID:3490 Noonan syndrome Disease_Ontology DOID:3491 DOID:3491 Turner syndrome Disease_Ontology DOID:3493 DOID:3493 signet ring cell adenocarcinoma Disease_Ontology DOID:3498 DOID:3498 pancreatic ductal adenocarcinoma Disease_Ontology DOID:350 DOID:350 mastocytosis Disease_Ontology DOID:3507 DOID:3507 dermatofibrosarcoma protuberans Disease_Ontology DOID:3512 DOID:3512 neurofibrosarcoma Disease_Ontology DOID:3527 DOID:3527 cerebral arterial disease Disease_Ontology DOID:3529 DOID:3529 congenital myopathy 1A Disease_Ontology DOID:3534 DOID:3534 Lafora disease Disease_Ontology DOID:3535 DOID:3535 Unverricht-Lundborg syndrome Disease_Ontology DOID:3565 DOID:3565 meningioma Disease_Ontology DOID:3571 DOID:3571 liver cancer Disease_Ontology DOID:3577 DOID:3577 Sertoli cell tumor Disease_Ontology DOID:3587 DOID:3587 pancreatic ductal carcinoma Disease_Ontology DOID:3590 DOID:3590 gestational trophoblastic neoplasm Disease_Ontology DOID:3594 DOID:3594 choriocarcinoma Disease_Ontology DOID:3606 DOID:3606 ovarian mucinous adenocarcinoma Disease_Ontology DOID:3610 DOID:3610 breast mucinous carcinoma Disease_Ontology DOID:3613 DOID:3613 Canavan disease Disease_Ontology DOID:3614 DOID:3614 Kallmann syndrome 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:3650 DOID:3650 lactic acidosis Disease_Ontology DOID:3652 DOID:3652 Leigh disease Disease_Ontology DOID:3659 DOID:3659 sialuria Disease_Ontology DOID:3663 DOID:3663 cutaneous mastocytosis Disease_Ontology DOID:3687 DOID:3687 MELAS syndrome Disease_Ontology DOID:3702 DOID:3702 cervical adenocarcinoma Disease_Ontology DOID:3713 DOID:3713 ovary adenocarcinoma Disease_Ontology DOID:3717 DOID:3717 gastric adenocarcinoma Disease_Ontology DOID:3744 DOID:3744 cervical squamous cell carcinoma Disease_Ontology DOID:3748 DOID:3748 esophagus squamous cell 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:3764 DOID:3764 Denys-Drash syndrome Disease_Ontology DOID:3765 DOID:3765 pseudohermaphroditism Disease_Ontology DOID:3770 DOID:3770 pulmonary fibrosis Disease_Ontology DOID:3783 DOID:3783 Coffin-Lowry syndrome Disease_Ontology DOID:3803 DOID:3803 Crigler-Najjar syndrome Disease_Ontology DOID:3805 DOID:3805 porokeratosis Disease_Ontology DOID:3827 DOID:3827 congenital diaphragmatic hernia 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:3846 DOID:3846 adamantinous craniopharyngioma Disease_Ontology DOID:3852 DOID:3852 Peutz-Jeghers syndrome Disease_Ontology DOID:3873 DOID:3873 desmoplastic/nodular medulloblastoma Disease_Ontology DOID:3883 DOID:3883 Lynch syndrome Disease_Ontology DOID:3890 DOID:3890 acute intermittent porphyria Disease_Ontology DOID:3905 DOID:3905 lung carcinoma 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:3948 DOID:3948 adrenocortical carcinoma Disease_Ontology DOID:3953 DOID:3953 adrenal gland cancer Disease_Ontology DOID:3962 DOID:3962 follicular thyroid carcinoma Disease_Ontology DOID:3963 DOID:3963 thyroid gland carcinoma 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:3973 DOID:3973 medullary thyroid carcinoma Disease_Ontology DOID:3981 DOID:3981 pantothenate kinase-associated neurodegeneration Disease_Ontology DOID:4 DOID:4 disease Disease_Ontology DOID:4001 DOID:4001 ovarian carcinoma Disease_Ontology DOID:4006 DOID:4006 bladder urothelial carcinoma Disease_Ontology DOID:4007 DOID:4007 bladder carcinoma Disease_Ontology DOID:4051 DOID:4051 alveolar rhabdomyosarcoma Disease_Ontology DOID:4055 DOID:4055 ectomesenchymoma Disease_Ontology DOID:4074 DOID:4074 pancreatic adenocarcinoma Disease_Ontology DOID:409 DOID:409 liver disease Disease_Ontology DOID:4123 DOID:4123 nail disease Disease_Ontology DOID:4154 DOID:4154 dentinogenesis imperfecta Disease_Ontology DOID:4159 DOID:4159 skin cancer Disease_Ontology DOID:4163 DOID:4163 ganglioneuroblastoma 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:4195 DOID:4195 hyperglycemia Disease_Ontology DOID:4210 DOID:4210 clear cell meningioma Disease_Ontology DOID:422 DOID:422 congenital structural myopathy Disease_Ontology DOID:423 DOID:423 myopathy Disease_Ontology DOID:4233 DOID:4233 clear cell sarcoma Disease_Ontology DOID:4235 DOID:4235 spindle cell sarcoma Disease_Ontology DOID:4239 DOID:4239 alveolar soft part sarcoma Disease_Ontology DOID:4249 DOID:4249 Gerstmann-Straussler-Scheinker syndrome 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:4297 DOID:4297 scimitar syndrome Disease_Ontology DOID:4305 DOID:4305 bone giant cell tumor Disease_Ontology DOID:4346 DOID:4346 variegate porphyria Disease_Ontology DOID:4362 DOID:4362 cervical cancer Disease_Ontology DOID:4367 DOID:4367 apparent mineralocorticoid excess syndrome Disease_Ontology DOID:440 DOID:440 neuromuscular disease Disease_Ontology DOID:4423 DOID:4423 sea-blue histiocytosis Disease_Ontology DOID:4435 DOID:4435 cavernous sinus 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:4441 DOID:4441 dysgerminoma Disease_Ontology DOID:4448 DOID:4448 macular degeneration Disease_Ontology DOID:4450 DOID:4450 renal cell carcinoma Disease_Ontology DOID:4455 DOID:4455 hereditary renal cell carcinoma Disease_Ontology DOID:446 DOID:446 primary hyperaldosteronism 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:4471 DOID:4471 chromophobe 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:4500 DOID:4500 hypokalemia Disease_Ontology DOID:4501 DOID:4501 orofaciodigital syndrome Disease_Ontology DOID:4535 DOID:4535 hypotrichosis Disease_Ontology DOID:4549 DOID:4549 extraskeletal myxoid chondrosarcoma Disease_Ontology DOID:4586 DOID:4586 familial meningioma Disease_Ontology DOID:4603 DOID:4603 epidermolytic hyperkeratosis Disease_Ontology DOID:4606 DOID:4606 bile duct cancer Disease_Ontology DOID:4621 DOID:4621 holoprosencephaly Disease_Ontology DOID:4644 DOID:4644 epidermolysis bullosa simplex Disease_Ontology DOID:4647 DOID:4647 trilateral retinoblastoma Disease_Ontology DOID:4648 DOID:4648 familial retinoblastoma Disease_Ontology DOID:4674 DOID:4674 androgen insensitivity syndrome Disease_Ontology DOID:468 DOID:468 intramuscular hemangioma Disease_Ontology DOID:471 DOID:471 skin hemangioma Disease_Ontology DOID:4752 DOID:4752 multiple system atrophy Disease_Ontology DOID:4769 DOID:4769 pleuropulmonary blastoma Disease_Ontology DOID:4791 DOID:4791 supratentorial primitive neuroectodermal tumor Disease_Ontology DOID:4798 DOID:4798 aggressive systemic mastocytosis Disease_Ontology DOID:4810 DOID:4810 cerebrotendinous xanthomatosis Disease_Ontology DOID:483 DOID:483 cavernous hemangioma Disease_Ontology DOID:4845 DOID:4845 pilomyxoid astrocytoma Disease_Ontology DOID:4851 DOID:4851 pilocytic astrocytoma Disease_Ontology DOID:4852 DOID:4852 pleomorphic xanthoastrocytoma Disease_Ontology DOID:4890 DOID:4890 juvenile myoclonic epilepsy Disease_Ontology DOID:4905 DOID:4905 pancreatic carcinoma Disease_Ontology DOID:4908 DOID:4908 anal carcinoma Disease_Ontology DOID:4916 DOID:4916 pituitary carcinoma Disease_Ontology DOID:4927 DOID:4927 Klatskin's tumor Disease_Ontology DOID:4928 DOID:4928 intrahepatic cholangiocarcinoma Disease_Ontology DOID:4947 DOID:4947 cholangiocarcinoma Disease_Ontology DOID:4948 DOID:4948 gallbladder carcinoma Disease_Ontology DOID:4959 DOID:4959 epidermolysis bullosa dystrophica Disease_Ontology DOID:4960 DOID:4960 bone marrow cancer Disease_Ontology DOID:4971 DOID:4971 myelofibrosis Disease_Ontology DOID:4977 DOID:4977 lymphedema Disease_Ontology DOID:4989 DOID:4989 pancreatitis Disease_Ontology DOID:4990 DOID:4990 essential tremor Disease_Ontology DOID:4992 DOID:4992 optic nerve glioma Disease_Ontology DOID:4997 DOID:4997 Camurati-Engelmann disease Disease_Ontology DOID:4998 DOID:4998 trichorhinophalangeal syndrome type II Disease_Ontology DOID:502 DOID:502 central nervous system mesenchymal non-meningothelial tumor Disease_Ontology DOID:5030 DOID:5030 pineal parenchymal tumor of intermediate differentiation Disease_Ontology DOID:5041 DOID:5041 esophageal cancer 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:5119 DOID:5119 ovarian cyst Disease_Ontology DOID:5132 DOID:5132 leiomyoma cutis Disease_Ontology DOID:5138 DOID:5138 leiomyomatosis Disease_Ontology DOID:5193 DOID:5193 nodular ganglioneuroblastoma Disease_Ontology DOID:5212 DOID:5212 congenital disorder of glycosylation Disease_Ontology DOID:5214 DOID:5214 demyelinating polyneuropathy Disease_Ontology DOID:5223 DOID:5223 infertility Disease_Ontology DOID:5230 DOID:5230 hepatoerythropoietic porphyria Disease_Ontology DOID:5241 DOID:5241 hemangioblastoma Disease_Ontology DOID:526 DOID:526 human immunodeficiency virus infectious disease Disease_Ontology DOID:5309 DOID:5309 epithelial-myoepithelial carcinoma Disease_Ontology DOID:5325 DOID:5325 Roberts syndrome Disease_Ontology DOID:5327 DOID:5327 retinal detachment Disease_Ontology DOID:5339 DOID:5339 cyclic hematopoiesis Disease_Ontology DOID:5363 DOID:5363 myxoid liposarcoma Disease_Ontology DOID:5374 DOID:5374 pilomatrixoma Disease_Ontology DOID:5378 DOID:5378 hemoglobin D disease Disease_Ontology DOID:5379 DOID:5379 hemoglobin E disease Disease_Ontology DOID:5408 DOID:5408 Paget disease of bone Disease_Ontology DOID:5409 DOID:5409 lung small cell carcinoma Disease_Ontology DOID:5419 DOID:5419 schizophrenia Disease_Ontology DOID:5425 DOID:5425 ovarian hyperstimulation syndrome Disease_Ontology DOID:5426 DOID:5426 primary ovarian insufficiency Disease_Ontology DOID:543 DOID:543 dystonia Disease_Ontology DOID:5485 DOID:5485 synovial sarcoma Disease_Ontology DOID:5503 DOID:5503 spinal cord ependymoma Disease_Ontology DOID:5517 DOID:5517 stomach carcinoma Disease_Ontology DOID:5520 DOID:5520 head and neck squamous cell carcinoma Disease_Ontology DOID:5557 DOID:5557 testicular germ cell cancer Disease_Ontology DOID:5572 DOID:5572 Beckwith-Wiedemann syndrome Disease_Ontology DOID:560 DOID:560 jaw-winking syndrome Disease_Ontology DOID:5603 DOID:5603 T-cell acute lymphoblastic leukemia Disease_Ontology DOID:5608 DOID:5608 dental pulp calcification Disease_Ontology DOID:5648 DOID:5648 choroid plexus 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:5723 DOID:5723 optic atrophy Disease_Ontology DOID:5746 DOID:5746 ovarian serous cystadenocarcinoma Disease_Ontology DOID:576 DOID:576 proteinuria Disease_Ontology DOID:5768 DOID:5768 Nager acrofacial dysostosis Disease_Ontology DOID:5805 DOID:5805 subvalvular aortic stenosis Disease_Ontology DOID:5812 DOID:5812 MHC class II deficiency Disease_Ontology DOID:5813 DOID:5813 purine nucleoside phosphorylase deficiency Disease_Ontology DOID:5828 DOID:5828 endometrioid ovary carcinoma Disease_Ontology DOID:583 DOID:583 hemolytic anemia Disease_Ontology DOID:5834 DOID:5834 spermatocytoma Disease_Ontology DOID:5844 DOID:5844 myocardial infarction Disease_Ontology DOID:5889 DOID:5889 anaplastic ependymoma Disease_Ontology DOID:5900 DOID:5900 meningeal melanocytoma Disease_Ontology DOID:5940 DOID:5940 malignant peripheral nerve sheath tumor Disease_Ontology DOID:6000 DOID:6000 congestive heart failure Disease_Ontology DOID:6032 DOID:6032 juvenile type testicular granulosa cell tumor Disease_Ontology DOID:6039 DOID:6039 uveal melanoma Disease_Ontology DOID:607 DOID:607 paraplegia Disease_Ontology DOID:6171 DOID:6171 uterine carcinosarcoma Disease_Ontology DOID:62 DOID:62 aortic valve disease Disease_Ontology DOID:6225 DOID:6225 Cronkhite-Canada syndrome Disease_Ontology DOID:6255 DOID:6255 growth hormone secreting pituitary adenoma Disease_Ontology DOID:627 DOID:627 severe combined immunodeficiency Disease_Ontology DOID:630 DOID:630 genetic disease Disease_Ontology DOID:6354 DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma Disease_Ontology DOID:6364 DOID:6364 migraine Disease_Ontology DOID:6367 DOID:6367 acral lentiginous melanoma Disease_Ontology DOID:6406 DOID:6406 double outlet right ventricle Disease_Ontology DOID:6419 DOID:6419 tetralogy of Fallot Disease_Ontology DOID:6432 DOID:6432 pulmonary hypertension Disease_Ontology DOID:6457 DOID:6457 Cowden syndrome Disease_Ontology DOID:6498 DOID:6498 seborrheic keratosis Disease_Ontology DOID:65 DOID:65 connective tissue disease Disease_Ontology DOID:655 DOID:655 inherited metabolic disorder Disease_Ontology DOID:6612 DOID:6612 leukocyte adhesion deficiency Disease_Ontology DOID:6620 DOID:6620 X-linked hyper IgM syndrome Disease_Ontology DOID:6678 DOID:6678 tooth and nail syndrome Disease_Ontology DOID:6683 DOID:6683 X-linked Aarskog syndrome Disease_Ontology DOID:6688 DOID:6688 autoimmune lymphoproliferative syndrome Disease_Ontology DOID:6691 DOID:6691 Aagenaes syndrome Disease_Ontology DOID:674 DOID:674 cleft palate Disease_Ontology DOID:6741 DOID:6741 bilateral breast cancer Disease_Ontology DOID:678 DOID:678 progressive supranuclear palsy Disease_Ontology DOID:6785 DOID:6785 desmoplastic small round cell tumor Disease_Ontology DOID:684 DOID:684 hepatocellular carcinoma Disease_Ontology DOID:6846 DOID:6846 familial melanoma Disease_Ontology DOID:687 DOID:687 hepatoblastoma Disease_Ontology DOID:688 DOID:688 embryonal cancer Disease_Ontology DOID:6901 DOID:6901 hereditary ovarian carcinoma Disease_Ontology DOID:700 DOID:700 mitochondrial metabolism disease Disease_Ontology DOID:705 DOID:705 Leber hereditary optic neuropathy Disease_Ontology DOID:707 DOID:707 B-cell lymphoma Disease_Ontology DOID:7148 DOID:7148 rheumatoid arthritis Disease_Ontology DOID:7154 DOID:7154 anaplastic oligodendroglioma Disease_Ontology DOID:7166 DOID:7166 thyroiditis Disease_Ontology DOID:7400 DOID:7400 Nijmegen breakage syndrome Disease_Ontology DOID:7442 DOID:7442 monoclonal gammopathy of uncertain significance Disease_Ontology DOID:7566 DOID:7566 eccrine porocarcinoma Disease_Ontology DOID:758 DOID:758 visceral heterotaxy 5 Disease_Ontology DOID:767 DOID:767 muscular atrophy Disease_Ontology DOID:768 DOID:768 retinoblastoma Disease_Ontology DOID:769 DOID:769 neuroblastoma Disease_Ontology DOID:7693 DOID:7693 abdominal aortic aneurysm Disease_Ontology DOID:7725 DOID:7725 epilepsy with generalized tonic-clonic seizures Disease_Ontology DOID:7765 DOID:7765 Coats disease Disease_Ontology DOID:7788 DOID:7788 adult spinal cord ependymoma Disease_Ontology DOID:784 DOID:784 chronic kidney disease Disease_Ontology DOID:7998 DOID:7998 hyperthyroidism Disease_Ontology DOID:811 DOID:811 lipodystrophy Disease_Ontology DOID:8158 DOID:8158 complement component 5 deficiency Disease_Ontology DOID:820 DOID:820 myocarditis Disease_Ontology DOID:824 DOID:824 periodontitis Disease_Ontology DOID:83 DOID:83 cataract Disease_Ontology DOID:8337 DOID:8337 appendicitis Disease_Ontology DOID:8354 DOID:8354 complement component 3 deficiency Disease_Ontology DOID:8398 DOID:8398 osteoarthritis Disease_Ontology DOID:84 DOID:84 osteochondritis dissecans Disease_Ontology DOID:8418 DOID:8418 congenital fibrosarcoma Disease_Ontology DOID:8432 DOID:8432 polycythemia Disease_Ontology DOID:8437 DOID:8437 intestinal obstruction Disease_Ontology DOID:8461 DOID:8461 Aicardi syndrome Disease_Ontology DOID:8465 DOID:8465 retinoschisis Disease_Ontology DOID:8466 DOID:8466 retinal degeneration Disease_Ontology DOID:8488 DOID:8488 polyhydramnios Disease_Ontology DOID:8499 DOID:8499 night blindness Disease_Ontology DOID:850 DOID:850 lung disease Disease_Ontology DOID:8501 DOID:8501 fundus dystrophy Disease_Ontology DOID:8541 DOID:8541 Sezary's disease Disease_Ontology DOID:8545 DOID:8545 malignant hyperthermia Disease_Ontology DOID:8552 DOID:8552 chronic myeloid leukemia Disease_Ontology DOID:856 DOID:856 biotinidase deficiency Disease_Ontology DOID:8567 DOID:8567 Hodgkin's lymphoma Disease_Ontology DOID:8584 DOID:8584 Burkitt lymphoma Disease_Ontology DOID:859 DOID:859 holocarboxylase synthetase deficiency Disease_Ontology DOID:8618 DOID:8618 oral cavity cancer Disease_Ontology DOID:8632 DOID:8632 Kaposi's sarcoma Disease_Ontology DOID:865 DOID:865 vasculitis Disease_Ontology DOID:870 DOID:870 neuropathy Disease_Ontology DOID:8712 DOID:8712 neurofibromatosis Disease_Ontology DOID:8725 DOID:8725 vascular dementia Disease_Ontology DOID:8761 DOID:8761 acute megakaryocytic leukemia Disease_Ontology DOID:8778 DOID:8778 Crohn's disease 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:8923 DOID:8923 skin melanoma Disease_Ontology DOID:8924 DOID:8924 autoimmune thrombocytopenic purpura Disease_Ontology DOID:8927 DOID:8927 learning disability Disease_Ontology DOID:893 DOID:893 Wilson disease Disease_Ontology DOID:8931 DOID:8931 Evans' syndrome Disease_Ontology DOID:8943 DOID:8943 lattice corneal dystrophy Disease_Ontology DOID:8947 DOID:8947 diabetic retinopathy Disease_Ontology DOID:8955 DOID:8955 sideroblastic anemia Disease_Ontology DOID:898 DOID:898 autosomal dominant polycystic kidney disease Disease_Ontology DOID:8997 DOID:8997 polycythemia vera Disease_Ontology DOID:9007 DOID:9007 sudden infant death syndrome Disease_Ontology DOID:906 DOID:906 peroxisomal disease Disease_Ontology DOID:9074 DOID:9074 systemic lupus erythematosus Disease_Ontology DOID:9080 DOID:9080 macroglobulinemia Disease_Ontology DOID:9119 DOID:9119 acute myeloid leukemia Disease_Ontology DOID:9120 DOID:9120 amyloidosis Disease_Ontology DOID:9169 DOID:9169 Wiskott-Aldrich syndrome Disease_Ontology DOID:9206 DOID:9206 Barrett's esophagus Disease_Ontology DOID:9212 DOID:9212 pityriasis rubra pilaris 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: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:9266 DOID:9266 cystinuria 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:9278 DOID:9278 hyperargininemia Disease_Ontology DOID:9279 DOID:9279 hyperhomocysteinemia Disease_Ontology DOID:9281 DOID:9281 phenylketonuria Disease_Ontology DOID:9296 DOID:9296 cleft lip Disease_Ontology DOID:93 DOID:93 language disorder Disease_Ontology DOID:9351 DOID:9351 diabetes mellitus Disease_Ontology DOID:9352 DOID:9352 type 2 diabetes mellitus Disease_Ontology DOID:936 DOID:936 brain disease Disease_Ontology DOID:9406 DOID:9406 hypopituitarism Disease_Ontology DOID:9408 DOID:9408 acute myocardial infarction Disease_Ontology DOID:9409 DOID:9409 diabetes insipidus Disease_Ontology DOID:9432 DOID:9432 renal glycosuria Disease_Ontology DOID:9452 DOID:9452 steatotic liver disease Disease_Ontology DOID:9460 DOID:9460 uterine corpus cancer Disease_Ontology DOID:9467 DOID:9467 nail-patella syndrome Disease_Ontology DOID:9521 DOID:9521 Laron syndrome Disease_Ontology DOID:9538 DOID:9538 multiple myeloma 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:9588 DOID:9588 encephalitis Disease_Ontology DOID:962 DOID:962 neurofibroma Disease_Ontology DOID:9620 DOID:9620 vesicoureteral reflux Disease_Ontology DOID:963 DOID:963 episodic ataxia Disease_Ontology DOID:9631 DOID:9631 Pelger-Huet anomaly Disease_Ontology DOID:9649 DOID:9649 congenital nystagmus Disease_Ontology DOID:9651 DOID:9651 systolic heart failure Disease_Ontology DOID:9675 DOID:9675 pulmonary emphysema Disease_Ontology DOID:9719 DOID:9719 neovascular inflammatory vitreoretinopathy Disease_Ontology DOID:9744 DOID:9744 type 1 diabetes mellitus Disease_Ontology DOID:9767 DOID:9767 myocardial stunning Disease_Ontology DOID:9810 DOID:9810 polyarteritis nodosa Disease_Ontology DOID:9821 DOID:9821 choroideremia Disease_Ontology DOID:9827 DOID:9827 radioulnar synostosis Disease_Ontology DOID:9849 DOID:9849 Meniere's disease Disease_Ontology DOID:9869 DOID:9869 hereditary fructose intolerance syndrome Disease_Ontology DOID:9870 DOID:9870 galactosemia Disease_Ontology DOID:988 DOID:988 mitral valve prolapse Disease_Ontology DOID:9883 DOID:9883 Becker muscular dystrophy Disease_Ontology DOID:9884 DOID:9884 muscular dystrophy Disease_Ontology DOID:9952 DOID:9952 acute lymphoblastic leukemia Disease_Ontology DOID:9955 DOID:9955 hypoplastic left heart syndrome Disease_Ontology DOID:9970 DOID:9970 obesity Disease_Ontology DOID:999 DOID:999 hypereosinophilic syndrome Disease_Ontology DOID:9993 DOID:9993 hypoglycemia Disease_Ontology