id stringlengths 13 13 | definition stringlengths 0 2.89k | subsets stringlengths 19 836 | crossreferences stringlengths 8 363 ⌀ | malacards_linkouts stringlengths 35 321 ⌀ | is_clingen bool 2
classes | is_susceptibility bool 2
classes | is_mondo_subtype bool 2
classes | is_grouping_subset bool 2
classes | is_obsoletion_candidate bool 2
classes | is_orphanet_subtype bool 2
classes | is_orphanet_disorder bool 2
classes | is_icd_billable bool 1
class | is_cardiovascular bool 2
classes | is_filter_heart_disorder bool 2
classes | is_inflammatory bool 2
classes | is_psychiatric bool 2
classes | is_cancer_or_benign_tumor bool 2
classes | is_grouping_subset_ancestor bool 2
classes | is_orphanet_subtype_descendant bool 2
classes | is_omimps bool 2
classes | is_omimps_descendant bool 2
classes | is_omim bool 2
classes | is_leaf bool 2
classes | is_leaf_direct_parent bool 2
classes | is_icd_category bool 2
classes | is_icd_chapter_code bool 2
classes | is_icd_chapter_header bool 2
classes | official_matrix_filter bool 2
classes | count_descendants int64 0 23.2k | count_subtypes int64 0 112 | subset_group_id stringclasses 577
values | subset_group_label stringclasses 577
values | other_subsets_count int64 1 112 ⌀ | count_descendants_without_subtypes int64 0 23.2k | is_grouping_heuristic bool 2
classes | level stringclasses 4
values | supergroup stringclasses 4
values | speciality_breast bool 2
classes | speciality_cardiovascular bool 2
classes | speciality_chromosomal bool 2
classes | speciality_connective_tissue bool 2
classes | speciality_dermatologic bool 2
classes | speciality_ear_nose_throat bool 2
classes | speciality_endocrine bool 2
classes | speciality_eye_and_adnexa bool 2
classes | speciality_gastrointestinal bool 2
classes | speciality_hematologic bool 2
classes | speciality_immune bool 2
classes | speciality_infection bool 2
classes | speciality_metabolic bool 2
classes | speciality_musculoskeletal bool 2
classes | speciality_neoplasm bool 2
classes | speciality_neurological bool 2
classes | speciality_obstetric bool 2
classes | speciality_poisoning_and_toxicity bool 2
classes | speciality_psychiatric bool 2
classes | speciality_reproductive bool 2
classes | speciality_respiratory bool 2
classes | speciality_renal_and_urinary bool 2
classes | speciality_syndromic bool 2
classes | core bool 2
classes | anatomical_deformity bool 2
classes | benign_malignant stringclasses 2
values | precancerous bool 2
classes | anatomical_id stringclasses 17
values | anatomical_name stringclasses 18
values | prevalence_experimental stringclasses 2
values | prevalence_world stringclasses 20
values | txgnn stringlengths 5 681 ⌀ | new_id null | deleted bool 1
class | name stringlengths 4 148 | synonyms listlengths 0 84 | harrisons_view stringlengths 0 223 | mondo_txgnn stringclasses 2
values | mondo_top_grouping stringclasses 15
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MONDO:0017545 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harriso... | icd11.foundation:1391914407; UMLS:C5679981; Orphanet:295193; MEDGEN:1843119; GARD:0021216 | https://www.malacards.org/card/zygodactyly_type_4 | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|autoimmune_diseases | null | false | Zygodactyly type 4 | [
"syndactyly type 1d",
"syndactyly type 1, Castilla type",
"Zygodactyly, Castilla type",
"SD1d",
"SD1, Castilla type"
] | musculoskeletal_system_disorder|hereditary_disease|chromosomal_disorder|disorder_of_development_or_morphogenesis | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0017544 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harriso... | icd11.foundation:1831534806; UMLS:C5679983; Orphanet:295191; MEDGEN:1843229; GARD:0021215 | https://www.malacards.org/card/zygodactyly_type_3 | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|inflammatory_disease|autoimmune_diseases | null | false | Zygodactyly type 3 | [
"syndactyly type 1c",
"syndactyly type 1, Montagu type",
"Zygodactyly, Montagu type",
"SD1c",
"SD1, Montagu type"
] | musculoskeletal_system_disorder|hereditary_disease|chromosomal_disorder|disorder_of_development_or_morphogenesis | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0017543 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harriso... | icd11.foundation:1092417894; UMLS:C5679982; Orphanet:295189; MEDGEN:1842290; GARD:0021214 | null | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|autoimmune_diseases | null | false | Zygodactyly type 2 | [
"syndactyly type 1b",
"syndactyly type 1, Lueken type",
"Zygodactyly, Lueken type",
"SD1b",
"SD1, Lueken type"
] | musculoskeletal_system_disorder|hereditary_disease|chromosomal_disorder|disorder_of_development_or_morphogenesis | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0012351 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harriso... | icd11.foundation:1671375617; UMLS:C1853294; Orphanet:295187; OMIM:609815; MESH:C565223; MEDGEN:377870; GARD:0017357; DOID:0111820 | https://www.malacards.org/card/zygodactyly_1 | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|genetic_disorder | null | false | Zygodactyly type 1 | [
"zygodactyly type 1",
"syndactyly type 1a",
"syndactyly type 1, Weidenreich type",
"Zygodactyly, Weidenreich type",
"SD1a",
"SD1, Weidenreich type"
] | musculoskeletal_system_disorder|hereditary_disease|chromosomal_disorder|disorder_of_development_or_morphogenesis | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0043988 | Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_infectious_disease; mondo:harrisons_view_member | UMLS:C1135841; SCTID:449783002; MESH:D031368; MEDGEN:253902 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | null | infection | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | inflammatory_disease|autoimmune_diseases|neurodegenerative_disease | null | false | Zoster sine herpete | [
"zoster sine herpete"
] | integumentary_system_disorder|infectious_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0004759 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_psychiatric_disorder; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_member | UMLS:C0152186; SCTID:81463002; MEDGEN:508916; ICD9:302.1; DOID:9336 | https://www.malacards.org/card/bestiality | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | exclude | exclude | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | true | false | false | false | false | false | false | null | false | null | null | null | null | neurodegenerative_disease|mental_health_disorder | null | false | Zoophilia | [
"zoophilia"
] | psychiatric_disorder|nervous_system_disorder | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0018586 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:ordo_clinical_situation; mondo:nord_rare; mondo:gard_rare | UMLS:C4546437; SCTID:762543009; Orphanet:439196; MEDGEN:1613901; GARD:0021825 | https://www.malacards.org/card/zinc_responsive_necrolytic_acral_erythema | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | autoimmune_diseases|metabolic_disorder | null | false | Zinc-responsive necrolytic acral erythema | [
"necrolytic acral erythema",
"NAE"
] | integumentary_system_disorder | other | disease_by_body_system_or_component | |
MONDO:0011973 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member; mondo:otar | UMLS:C1842486; OMIM:608118; MESH:C564286; MEDGEN:330858 | https://www.malacards.org/card/zinc_deficiency_transient_neonatal | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | neonatal_disease|metabolic_disorder | null | false | Zinc deficiency, transient neonatal | [
"zinc deficiency, transient neonatal"
] | hereditary_disease | other | disease_by_etiologic_mechanism | |
MONDO:0019949 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_nervous_system_disorder; mo... | icd11.foundation:1699813614; UMLS:C0270969; SCTID:34513009; Orphanet:97240; MEDGEN:543080; ICD9:359.89; GARD:0019354 | https://www.malacards.org/card/zebra_body_myopathy | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | false | false | false | false | false | false | false | true | false | null | false | null | null | True | <1 in 100,000 | myopathy|neurodegenerative_disease | null | false | Zebra body myopathy | [] | musculoskeletal_system_disorder|hereditary_disease|nervous_system_disorder | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component | |
MONDO:0017279 | A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:otar; mon... | UMLS:C4275179; SCTID:715345007; Orphanet:2828; MEDGEN:907947; GARD:0016610; DOID:0060894 | https://www.malacards.org/card/early_onset_parkinsons_disease | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | true | false | false | false | true | 13 | 0 | MONDO:0005180 | parkinson disease | 23 | 13 | false | subgroup | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | neurodegenerative_disease|young_onset_parkinson_disease_is_also_a_subtype_of_parkinson_s_disease__but_since_parkinson_s_falls_under_neurodegenerative_diseases__this_category_will_suffice | null | false | Young-onset parkinson disease | [
"early-onset Parkinson disease",
"YOPD"
] | hereditary_disease|nervous_system_disorder | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0016739 | A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP ar... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:ordo_subtype_of_a_disorder; mondo:nord_rare; mondo:gard_rare | icd11.foundation:1023155823; UMLS:C1337040; Orphanet:252006; NCIT:C7011; MEDGEN:234492; GARD:0020733 | https://www.malacards.org/card/yolk_sac_tumor_of_central_nervous_system | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | 2 | 0 | null | null | null | 2 | false | subgroup | neoplasm | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | cancer | null | false | Yolk sac tumor of central nervous system | [
"yolk sac tumour of CNS",
"yolk sac tumor of CNS",
"yolk Sac tumour of the central nervous system",
"yolk Sac tumour of the CNS",
"yolk Sac tumour of central nervous system",
"yolk Sac tumour of CNS",
"yolk Sac tumor of the central nervous system",
"yolk Sac tumor of the CNS",
"yolk Sac tumor of cen... | cancer_or_benign_tumor | other | disease_by_etiologic_mechanism |
MONDO:0005744 | A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tum... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | UMLS:C0014145; SCTID:404081005; Orphanet:876; ONCOTREE:BYST; NCIT:C3011; NANDO:2200069; MedDRA:10048251; MEDGEN:41782; ICDO:9071/3; GARD:0000348; EFO:0007252; DOID:1911 | https://www.malacards.org/card/endodermal_sinus_tumor | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | true | 23 | 0 | null | null | null | 23 | false | clinically_recognized | neoplasm | false | false | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | true | false | false | false | false | malignant | false | null | no_defined_location | False | <1 in 100,000 | tumor|cancer | null | false | Yolk sac tumor | [
"yolk sac tumor",
"yolk Sac tumour site unspecified",
"yolk Sac tumor site unspecified",
"yolk Sac tumor",
"yolk Sac neoplasm",
"yolk SAC tumor, malignant",
"hepatoid yolk sac tumor",
"endodermal sinus tumor",
"endodermal sinus neoplasm"
] | cancer_or_benign_tumor | other | disease_by_etiologic_mechanism |
MONDO:0007921 | A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_cardiovascular_disorder; mondo:harrisons_... | icd11.foundation:47812081; UMLS:C0221348; SCTID:400211001; Orphanet:662; OMIM:153300; NORD:1874; NCIT:C85238; MedDRA:10048244; MESH:D056684; MEDGEN:113164; ICD9:757.0; ICD9:703.8; ICD10CM:L60.5; GARD:0000184; EFO:1001452; DOID:0050468 | https://www.malacards.org/card/yellow_nail_syndrome | false | false | false | false | false | false | true | false | true | false | false | false | false | false | false | false | true | true | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | metabolic_disorder|inflammatory_disease | null | false | Yellow nail syndrome | [
"yellow nail syndrome",
"lymphedema with yellow nails",
"YNS"
] | syndromic_disease|hereditary_disease|cardiovascular_disorder|immune_system_disorder | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0020502 | Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_infectious_disease; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare; mondo:doid_rare | icd11.foundation:383352795; UMLS:C0043395; Orphanet:99829; NORD:1873; NCIT:C35547; MedDRA:10048240; MESH:D015004; MEDGEN:53112; ICD9:060.9; ICD9:060; ICD10WHO:A95; ICD10CM:A95; GARD:0007914; DOID:9682 | https://www.malacards.org/card/yellow_fever | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | true | true | 0 | 0 | null | null | null | 0 | false | null | infection | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | autoimmune_diseases|inflammatory_disease | null | false | Yellow fever | [
"sylvatic yellow fever",
"bronze John",
"Yellow fever virus infectious disease",
"Yellow fever virus disease or disorder",
"Yellow fever virus caused disease or disorder",
"Yellow fever Virus infection",
"Yellow Jack",
"YF"
] | infectious_disease | other | disease_by_etiologic_mechanism |
MONDO:0006019 | An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_infectious_disease; mondo:harrisons_view_member; mondo:rare; mondo:nord... | icd11.foundation:840525023; UMLS:C0043388; SCTID:70647001; NORD:1872; NCIT:C41353; MESH:D015001; MEDGEN:12186; ICD9:102.9; ICD9:102.7; ICD9:102; ICD10WHO:A66; ICD10CM:A66; GARD:0007913; DOID:10371 | https://www.malacards.org/card/yaws | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | true | false | 4 | 0 | null | null | null | 4 | false | null | infection | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | inflammatory_disease|autoimmune_diseases | null | false | Yaws | [
"frambesia tropica",
"frambesia",
"Treponema pallidum subsp. pertenue infectious disease",
"Treponema pallidum subsp. pertenue disease or disorder",
"Treponema pallidum subsp. pertenue caused disease or disorder",
"Bouba"
] | reproductive_system_disorder|infectious_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0800412 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member | null | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | adrenal_gland_disease|metabolic_disorder | null | false | Yakut short stature syndrome | [] | hereditary_disease | other | disease_by_etiologic_mechanism | |
MONDO:0010219 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member | UMLS:C1848407; OMIM:278900; MESH:C564730; MEDGEN:336338 | https://www.malacards.org/card/xylosidase_deficiency | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | null | false | null | null | True | <1 in 100,000 | metabolic_disorder|neurodegenerative_disease | null | false | Xylosidase deficiency | [
"xylosidase deficiency"
] | hereditary_disease | other | disease_by_etiologic_mechanism | |
MONDO:0957786 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member | UMLS:C5882692; OMIM:620510; MEDGEN:1848919 | https://www.malacards.org/card/xerosis_and_growth_failure_with_immune_and_pulmonary_dysfunction_syndrome | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | False | <1 in 100,000 | inflammatory_disease|autoimmune_diseases | null | false | Xerosis and growth failure with immune and pulmonary dysfunction syndrome | [] | syndromic_disease|hereditary_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component | |
MONDO:0000948 | Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_inflammatory_disease; mondo:harrisons_view_disorder_of_visual_s... | UMLS:C0022575; SCTID:363677007; NCIT:C34503; MESH:D014985; MEDGEN:9620; GARD:0027564; DOID:10138 | https://www.malacards.org/card/xerophthalmia | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | autoimmune_diseases|adrenal_gland_disease|metabolic_disorder | null | false | Xerophthalmia | [
"conjunctival xerosis"
] | syndromic_disease|inflammatory_disease|disorder_of_visual_system | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0016354 | Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harr... | icd11.foundation:2002862606; UMLS:C4304411; Orphanet:220295; NCIT:C156031; MEDGEN:930080; GARD:0017130 | https://www.malacards.org/card/xeroderma_pigmentosum_cockayne_syndrome_complex | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | true | 6 | 0 | null | null | null | 6 | false | clinically_recognized | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | inflammatory_disease|cancer|metabolic_disorder|autoimmune_diseases | null | false | Xeroderma pigmentosum-cockayne syndrome complex | [
"XP/CS complex"
] | integumentary_system_disorder|syndromic_disease|hereditary_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0800314 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harr... | UMLS:C1968561; MEDGEN:409618; GARD:0026497 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | null | null | inherited_disorder|cancer|metabolic_disorder | null | false | Xeroderma pigmentosum, type g/cockayne syndrome | [
"XPG/CS"
] | integumentary_system_disorder|syndromic_disease|hereditary_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component | |
MONDO:0800313 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harr... | UMLS:C3806565; MEDGEN:812895; GARD:0026496 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | null | null | cancer|metabolic_disorder|genetic_disease | null | false | Xeroderma pigmentosum, type f/cockayne syndrome | [
"XPF/CS"
] | integumentary_system_disorder|syndromic_disease|hereditary_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component | |
MONDO:0980987 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | OMIM:621435 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | null | null | false | Xeroderma pigmentosum, complementation group j | [] | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0008690 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C1860231; OMIM:194400; MESH:C565989; MEDGEN:395440; GARD:0024638 | https://www.malacards.org/card/xeroderma_pigmentosum_autosomal_dominant_mild | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0019600 | xeroderma pigmentosum | 9 | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | cancer|metabolic_disorder | null | false | Xeroderma pigmentosum, autosomal dominant, mild | [
"xeroderma pigmentosum, autosomal dominant, mild"
] | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0010214 | Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C1848410; Orphanet:90342; OMIM:278750; NCIT:C141367; MESH:C536766; MEDGEN:376352; GARD:0005630; DOID:0110847 | https://www.malacards.org/card/xeroderma_pigmentosum_variant_type | true | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0019600 | xeroderma pigmentosum | 9 | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|cancer|autoimmune_diseases | null | false | Xeroderma pigmentosum variant type | [
"xeroderma pigmentosum with normal DNA repair rates",
"xeroderma pigmentosum variant type",
"photosensitivity with defective DNA synthesis",
"XPV"
] | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0010216 | Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C0268141; SCTID:36454001; Orphanet:276267; OMIM:278780; NCIT:C3969; MESH:C562593; MEDGEN:75657; GARD:0005629; DOID:0110849 | https://www.malacards.org/card/xeroderma_pigmentosum_group_g_2; https://www.malacards.org/card/xeroderma_pigmentosum_complementation_group_g | true | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0019600 | xeroderma pigmentosum | 9 | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | true | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | null | null | allergy|neurodegenerative_disease|inflammatory_disease|cancer|autoimmune_diseases | null | false | Xeroderma pigmentosum group g | [
"xeroderma pigmentosum, group G/Cockayne syndrome",
"xeroderma pigmentosum, group G",
"xeroderma pigmentosum, complementation group type G",
"xeroderma pigmentosum group type G",
"xeroderma pigmentosum group G",
"xeroderma pigmentosum caused by mutation in ERCC5",
"XPG",
"XP7",
"XP-G",
"ERCC5 xero... | integumentary_system_disorder|syndromic_disease|hereditary_disease|metabolic_disease|disorder_of_visual_system | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0010215 | Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C0268140; SCTID:42530008; Orphanet:276264; OMIM:278760; NCIT:C3968; MESH:C562592; MEDGEN:120612; GARD:0005628; DOID:0110848 | https://www.malacards.org/card/xeroderma_pigmentosum_group_f_2; https://www.malacards.org/card/xeroderma_pigmentosum_complementation_group_f | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0019600 | xeroderma pigmentosum | 9 | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | null | null | cancer|autoimmune_diseases | null | false | Xeroderma pigmentosum group f | [
"xeroderma pigmentosum, group F",
"xeroderma pigmentosum, complementation group type F",
"xeroderma pigmentosum group type F",
"xeroderma pigmentosum group F",
"xeroderma pigmentosum caused by mutation in ERCC4",
"XPF",
"XP6",
"XP-F",
"XP, group F",
"ERCC4 xeroderma pigmentosum"
] | integumentary_system_disorder|syndromic_disease|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0010213 | An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C1848411; SCTID:56048001; Orphanet:276261; OMIM:278740; NCIT:C114771; MESH:C564732; MEDGEN:341219; GARD:0005627; DOID:0110846 | https://www.malacards.org/card/xeroderma_pigmentosum_group_e; https://www.malacards.org/card/xeroderma_pigmentosum_complementation_group_e | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0019600 | xeroderma pigmentosum | 9 | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | neurodegenerative_disease|inflammatory_disease|cancer | null | false | Xeroderma pigmentosum group e | [
"xeroderma pigmentosum, group E, DDB-negative subtype",
"xeroderma pigmentosum, complementation group type E",
"xeroderma pigmentosum group type E",
"xeroderma pigmentosum group E",
"XPE",
"XP5",
"XP-E"
] | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0010212 | Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C0268138; SCTID:68637004; Orphanet:276258; OMIM:278730; NCIT:C3967; MESH:C562591; MEDGEN:75656; GARD:0016452; DOID:0110845 | https://www.malacards.org/card/xeroderma_pigmentosum_group_d_2; https://www.malacards.org/card/xeroderma_pigmentosum_complementation_group_d | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0019600 | xeroderma pigmentosum | 9 | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | null | null | genetic_disorder|cancer | null | false | Xeroderma pigmentosum group d | [
"xeroderma pigmentosum, group D",
"xeroderma pigmentosum, complementation group type D",
"xeroderma pigmentosum group type D",
"xeroderma pigmentosum group D",
"xeroderma pigmentosum caused by mutation in ERCC2",
"XPDC",
"XPD",
"XP4",
"XP-D",
"ERCC2 xeroderma pigmentosum"
] | integumentary_system_disorder|syndromic_disease|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0010211 | An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C2752147; SCTID:25784009; Orphanet:276255; OMIM:278720; NCIT:C114770; MESH:C567886; MEDGEN:416702; GARD:0005626; DOID:0110844 | https://www.malacards.org/card/xeroderma_pigmentosum_group_c_2; https://www.malacards.org/card/xeroderma_pigmentosum_complementation_group_c | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0019600 | xeroderma pigmentosum | 9 | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | cancer|autoimmune_diseases|genetic_diseases__note__i_added_genetic_diseases_as_it_is_a_more_fitting_category_for_xeroderma_pigmentosum_group_c__which_is_a_rare_genetic_disorder | null | false | Xeroderma pigmentosum group c | [
"xeroderma pigmentosum, group C",
"xeroderma pigmentosum, complementation group type C",
"xeroderma pigmentosum group type C",
"xeroderma pigmentosum group C",
"XPCC",
"XPC",
"XP3",
"XP-C"
] | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0012531 | Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C0268136; SCTID:1073003; Orphanet:276252; OMIM:610651; NCIT:C3966; MESH:C562590; MEDGEN:78643; GARD:0005625; DOID:0110850 | https://www.malacards.org/card/xeroderma_pigmentosum_group_b_2; https://www.malacards.org/card/xeroderma_pigmentosum_complementation_group_b | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0019600 | xeroderma pigmentosum | 9 | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | null | null | cancer|neurodegenerative_disease|inflammatory_disease | null | false | Xeroderma pigmentosum group b | [
"xeroderma pigmentosum, group B",
"xeroderma pigmentosum, complementation group type B",
"xeroderma pigmentosum group type B",
"xeroderma pigmentosum group B",
"xeroderma pigmentosum caused by mutation in ERCC3",
"XPBC",
"XPB",
"XP-B",
"XP, Group B",
"ERCC3 xeroderma pigmentosum"
] | integumentary_system_disorder|syndromic_disease|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0010210 | Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C0268135; SCTID:43477006; Orphanet:276249; OMIM:278700; NCIT:C3965; MEDGEN:82775; GARD:0005624; DOID:0110843 | https://www.malacards.org/card/xeroderma_pigmentosum_complementation_group_a | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0019600 | xeroderma pigmentosum | 9 | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|cancer | null | false | Xeroderma pigmentosum group a | [
"xeroderma pigmentosum, group A",
"xeroderma pigmentosum, complementation group type a",
"xeroderma pigmentosum group type A",
"xeroderma pigmentosum group A",
"xeroderma pigmentosum caused by mutation in XPA",
"xeroderma pigmentosum 1",
"XPA xeroderma pigmentosum",
"XPA",
"XP1",
"XP-A"
] | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0019600 | Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | icd11.foundation:1243068849; UMLS:C0043346; SCTID:44600005; Orphanet:910; OMIMPS:278700; NORD:1870; NCIT:C3452; NANDO:2201002; NANDO:2100286; NANDO:1200608; MedDRA:10048220; MESH:D014983; MEDGEN:21943; ICD10CM:Q82.1; GARD:0007910; DOID:0050427 | null | false | false | true | false | false | false | true | false | false | false | false | false | false | false | false | true | false | false | false | true | true | false | false | true | 10 | 9 | null | null | null | 1 | false | clinically_recognized | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | null | false | null | null | False | <1 in 100,000 | cancer|genetic_disorder | null | false | Xeroderma pigmentosum | [
"xeroderma pigmentosum syndrome",
"xeroderma of Kaposi",
"pigmented epitheliomatosis",
"melanosis lenticularis progressiva",
"atrophoderma pigmentosum",
"angioma pigmentosum atrophicum",
"XP",
"Kaposi disease",
"Kaposi dermatosis"
] | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0004718 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_inflammatory_disease; mondo:harrisons_view_disorder_of_visual_system; mondo:harrisons_view_member | icd11.foundation:144401595; UMLS:C0155179; SCTID:55846006; MEDGEN:509834; ICD9:373.33; ICD10CM:H01.14; DOID:9140 | https://www.malacards.org/card/xeroderma_of_eyelid | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | autoimmune_diseases|cancer | null | false | Xeroderma of eyelid | [] | inflammatory_disease|disorder_of_visual_system | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:1060217 | A rare hypophysitis characterized histologically by mixed inflammatory cell infiltrates consisting of foamy histiocytes, plasma cells, and small round mature lymphocytes infiltrating the anterior pituitary gland. The tissue often contains cystic-like areas of liquefaction filled with lipid-laden macrophages along with ... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_endocr... | SCTID:1186907003 | null | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | null | null | null | null | false | Xanthomatous hypophysitis | [] | reproductive_system_disorder|nervous_system_disorder|endocrine_system_disorder|inflammatory_disease | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0002615 | A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:o... | UMLS:C0043325; SCTID:63103006; MESH:D014973; MEDGEN:21939; HP:0000991; GARD:0023188; DOID:3345 | https://www.malacards.org/card/xanthomatosis | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | 1 | 0 | null | null | null | 1 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | null | false | null | null | False | <1 in 100,000 | inflammatory_disease|autoimmune_diseases|metabolic_disorder | null | false | Xanthomatosis | [
"xanthomatosis (disease)",
"xanthomatosis"
] | hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process |
MONDO:0015535 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_immune_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | icd11.foundation:1785140754; UMLS:C0043322; SCTID:399970005; Orphanet:158003; MedDRA:10052575; MEDGEN:12178; GARD:0013186 | https://www.malacards.org/card/xanthoma_disseminatum | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|autoimmune_diseases|inflammatory_disease | null | false | Xanthoma disseminatum | [
"Montgomery syndrome"
] | immune_system_disorder | other | disease_by_body_system_or_component | |
MONDO:0005236 | A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_member; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:otar | UMLS:C0302314; NCIT:C4071; MEDGEN:86216; HP:0001114; EFO:0003075 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | 1 | 0 | null | null | null | 1 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | null | false | null | null | True | 10-99 in 100,000 | metabolic_disorder|inflammatory_disease | null | false | Xanthoma | [
"xanthoma (disease)",
"xanthoma"
] | metabolic_disease | other | disease_by_developmental_or_physiological_process |
MONDO:0027091 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_immune_system_disorder; mondo:harrisons_view_inflammatory_disease; mondo:harrisons_view_member | UMLS:C2931315; MESH:C536763; MEDGEN:444028 | null | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | true | false | null | false | null | null | True | <1 in 100,000 | autoimmune_diseases|cancer|inflammatory_disease | null | false | Xanthogranulomatous sialadenitis | [
"sialadenitis, xanthogranulomatous"
] | immune_system_disorder|inflammatory_disease | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0007022 | Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_urinary_system_disorder; mondo:harrisons_view_... | UMLS:C0034188; SCTID:38898003; NCIT:C123038; MedDRA:10074389; MESH:D011705; MEDGEN:19591; ICD9:582.89; EFO:1001244; DOID:11401 | https://www.malacards.org/card/xanthogranulomatous_pyelonephritis | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | null | infection | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | true | false | false | false | null | false | null | null | null | null | inflammatory_disease|autoimmune_diseases | null | false | Xanthogranulomatous pyelonephritis | [
"xanthogranulomatous pyelonephritis"
] | urinary_system_disorder|reproductive_system_disorder|infectious_disease|inflammatory_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:1060218 | A hypophysitis exhibiting histologic features of both xanthomatous and granulomatous hypophysitis, characterized by cholesterol clefts, haemosiderin deposits, multinucleated giant cells, macrophage accumulation and fibrous proliferation. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_endocr... | null | null | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | null | null | null | null | false | Xanthogranulomatous hypophysitis | [] | reproductive_system_disorder|nervous_system_disorder|endocrine_system_disorder|inflammatory_disease | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0004875 | Cholecystitis that is characterized by nodules containing lipid. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_digestive_system_disorder; mondo:harrisons_view_endocrine_system_disorder; mondo:harrisons_view_inflamm... | icd11.foundation:294033251; UMLS:C1337035; SCTID:448286002; NCIT:C35792; MESH:C536762; MEDGEN:235004; DOID:9766 | https://www.malacards.org/card/xanthogranulomatous_cholecystitis | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | true | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | null | false | null | null | True | <1 in 100,000 | inflammatory_disease|autoimmune_diseases | null | false | Xanthogranulomatous cholecystitis | [] | digestive_system_disorder|endocrine_system_disorder|inflammatory_disease | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0024617 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_immune_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:gard_rare | UMLS:C5234857; SCTID:189099001; NCIT:C27302; MEDGEN:1717859; GARD:0025437 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | 1 | 0 | null | null | null | 1 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | true | false | null | false | null | null | True | <1 in 100,000 | autoimmune_diseases|inflammatory_disease|cancer | null | false | Xanthogranuloma | [
"xanthogranuloma"
] | immune_system_disorder | other | disease_by_body_system_or_component | |
MONDO:0011346 | Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less co... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:o... | UMLS:C1863688; Orphanet:93602; OMIM:603592; MESH:C566358; MEDGEN:350953; GARD:0005620; DOID:0070453 | https://www.malacards.org/card/xanthinuria_type_ii | true | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0000721 | xanthinuria | 2 | 0 | false | subgroup | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | kidney_disease|metabolic_disorder | null | false | Xanthinuria type ii | [
"xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency",
"xanthine dehydrogenase and aldehyde oxidase, combined deficiency of",
"XDH and AOX dual deficiency",
"XAN2"
] | hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process |
MONDO:0010209 | A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and other... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:o... | UMLS:C0268118; SCTID:72682008; Orphanet:93601; OMIM:278300; MESH:C562584; MEDGEN:82771; GARD:0005621; DOID:0070452 | https://www.malacards.org/card/xanthinuria_type_i | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | MONDO:0000721 | xanthinuria | 2 | 0 | false | subgroup | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|adrenal_gland_disease | null | false | Xanthinuria type i | [
"xanthinuria, type I",
"xanthinuria, type 1",
"xanthinuria type I",
"xanthinuria type 1",
"isolated xanthine oxidase deficiency",
"XAN1"
] | hereditary_disease|metabolic_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process |
MONDO:0000721 | A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_member; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:mondo_subtype; mondo:otar | icd11.foundation:1565213608; UMLS:C0220988; SCTID:190919008; NANDO:2200588; MEDGEN:450997; ICD9:277.2 | null | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | 4 | 2 | null | null | null | 2 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | null | false | null | null | False | <1 in 100,000 | metabolic_disorder|renal_disease | null | false | Xanthinuria | [] | metabolic_disease | other | disease_by_developmental_or_physiological_process |
MONDO:0000599 | A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_psychiatric_disorder; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_member | UMLS:C0860614; MEDGEN:1843493; DOID:0060047 | https://www.malacards.org/card/writing_disorder | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | 2 | 0 | null | null | null | 2 | false | grouping | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | true | false | false | false | false | false | false | null | false | null | null | null | null | mental_health_disorder|writing_disorder | null | false | Writing disorder | [] | psychiatric_disorder|nervous_system_disorder | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0010208 | A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- an... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | icd11.foundation:638767040; UMLS:C0406587; SCTID:238875009; Orphanet:2834; OMIM:278250; MESH:C536750; MEDGEN:98030; ICD9:259.8; GARD:0000273; DOID:0112171 | https://www.malacards.org/card/wrinkly_skin_syndrome | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | true | true | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | autoimmune_diseases|metabolic_disorder|neurodegenerative_disease | null | false | Wrinkly skin syndrome | [
"wrinkly skin syndrome",
"wrinkled skin syndrome",
"WSS"
] | integumentary_system_disorder|musculoskeletal_system_disorder|hereditary_disease|metabolic_disease|disorder_of_development_or_morphogenesis | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0015622 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_infectious_disease; mondo:harrisons_view_member; mondo:rare; mondo:orp... | icd11.foundation:894204357; UMLS:C0344061; SCTID:240880004; Orphanet:165955; MEDGEN:576044; ICD9:998.89; ICD10CM:B87.1; GARD:0020065 | https://www.malacards.org/card/wound_myiasis | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | null | infection | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | inflammatory_disease|wound_infection | null | false | Wound myiasis | [
"traumatic myiasis"
] | integumentary_system_disorder|infectious_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component | |
MONDO:0015803 | Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_infectious_disease; mondo:harrisons_view_member; mondo:rare; mondo:ordo_subtype_of_a_disorder; mondo:ordo_etiological_subtype; mondo:nord_rare; mondo:gard_rare | icd11.foundation:1674998448; UMLS:C1306794; SCTID:398530003; Orphanet:178475; NCIT:C128342; MEDGEN:224933; ICD9:040.42; ICD10CM:A48.52; GARD:0020149; DOID:0050353 | https://www.malacards.org/card/wound_botulism | false | false | false | false | false | true | false | false | false | false | false | false | false | false | true | false | false | false | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | null | infection | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | adrenal_gland_disease|neurodegenerative_disease | null | false | Wound botulism | [
"skin toxin-mediated botulism",
"skin infectious botulism",
"inoculation botulism",
"cutaneous toxin-mediated botulism",
"cutaneous infectious botulism"
] | infectious_disease | other | disease_by_etiologic_mechanism |
MONDO:0011501 | Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the s... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member; mondo:rare; mondo:o... | UMLS:C1858032; Orphanet:166277; OMIM:604922; MESH:C565734; MEDGEN:387969; GARD:0010290 | https://www.malacards.org/card/wormian_bone_multiple_fractures_dentinogenesis_imperfecta_skeletal_dysplasia; https://www.malacards.org/card/cortical_defects_wormian_bones_and_dentinogenesis_imperfecta_2 | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | null | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | true | false | true | null | false | null | null | null | null | metabolic_disorder|adrenal_gland_disease|skeletal_dysplasia | null | false | Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia | [
"Suarez-Stickler syndrome"
] | musculoskeletal_system_disorder|hereditary_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0014492 | Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C4015202; SCTID:764108000; Orphanet:420686; OMIM:616099; MEDGEN:863639; GARD:0017697; DOID:0070554 | https://www.malacards.org/card/palmoplantar_keratoderma_and_woolly_hair | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | autoimmune_diseases|metabolic_disorder|inflammatory_disease | null | false | Wooly hair-palmoplantar keratoderma syndrome | [
"wooly hair-palmoplantar hyperkeratosis syndrome",
"woolly hair-palmoplantar hyperkeratosis syndrome",
"keratoderma with wooly hair type IV",
"keratoderma with woolly hair type IV",
"KWWH type IV"
] | integumentary_system_disorder|hereditary_disease|disorder_of_development_or_morphogenesis | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0010207 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:ordo_malformation_syndrome; mondo:gard_rare | UMLS:C0406718; SCTID:239023005; Orphanet:1409; OMIM:278200; MESH:C536746; MEDGEN:98033; GARD:0005594 | https://www.malacards.org/card/woolly_hair_hypotrichosis_everted_lower_lip_and_outstanding_ears_2 | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | autoimmune_diseases|metabolic_disorder|anemia | null | false | Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome | [
"wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome",
"Salamon syndrome"
] | syndromic_disease | other | disease_by_body_system_or_component | |
MONDO:0014765 | Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member; mondo:rare; mondo:nor... | UMLS:C4225214; OMIM:616760; MEDGEN:902275; GARD:0016157; DOID:0111574 | https://www.malacards.org/card/woolly_hair_autosomal_recessive_3_2 | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | genetic_disease|metabolic_disorder | null | false | Wooly hair, autosomal recessive 3 | [
"wooly hair, autosomal recessive type 3",
"wooly hair, autosomal recessive 3",
"wooly hair (disease) caused by mutation in KRT25",
"woolly hair, autosomal recessive type 3",
"woolly hair (disease) caused by mutation in KRT25",
"KRT25 wooly hair (disease)",
"KRT25 woolly hair (disease)",
"ARWH3"
] | integumentary_system_disorder|hereditary_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0800312 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:gard_rare | UMLS:C1848435; MEDGEN:341227; GARD:0026495 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|anemia | null | false | Wooly hair, autosomal recessive 1, with or without hypotrichosis | [
"ARWH1"
] | integumentary_system_disorder | other | disease_by_body_system_or_component | |
MONDO:0019311 | Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed ... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C0343114; SCTID:239124001; Orphanet:79414; MEDGEN:575391; GARD:0013025 | null | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | autoimmune_diseases|inflammatory_disease|neurodegenerative_disease | null | false | Wooly hair nevus | [
"wooly hair nevus"
] | integumentary_system_disorder|hereditary_disease|disorder_of_development_or_morphogenesis|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0957307 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member | UMLS:C1843292; OMIM:620415; MEDGEN:375148 | https://www.malacards.org/card/woolly_hair_skin_fragility_syndrome | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | metabolic_disorder|autoimmune_diseases | null | false | Woolly hair-skin fragility syndrome | [] | hereditary_disease | other | disease_by_etiologic_mechanism | |
MONDO:0018018 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_cardiovascular_disorder; mondo:harrisons_view_met... | icd11.foundation:25699053; UMLS:C0342623; SCTID:237877004; Orphanet:330001; NANDO:1200212; MEDGEN:87446; ICD9:277.39; ICD10CM:E85.82; GARD:0021501; DOID:0080937 | https://www.malacards.org/card/wild_type_amyloidosis | false | false | false | false | false | false | true | false | true | true | false | false | false | false | false | false | false | false | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | exclude | exclude | false | true | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | neurodegenerative_disease|adrenal_gland_disease|metabolic_disorder | null | false | Wild type attr amyloidosis | [
"wild type ATTR-related amyloidosis",
"Senile systemic amyloidosis",
"SSA",
"ATTRwt-related amyloidosis",
"ATTRwt amyloidosis"
] | musculoskeletal_system_disorder|cardiovascular_disorder|metabolic_disease | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0019440 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_member; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | icd11.foundation:499046814; UMLS:C0268405; SCTID:32599008; Orphanet:85446; MEDGEN:78673; GARD:0019065 | https://www.malacards.org/card/wild_type_abeta2m_amyloidosis | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | exclude | exclude | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | amyloidosis|neurodegenerative_disease | null | false | Wild type abeta2m amyloidosis | [
"wild type ABeta2-microglobulinic amyloidosis",
"dialysis-related arthropathy",
"dialysis-related amyloidosis",
"ABeta2Mwt amyloidosis"
] | metabolic_disease | other | disease_by_developmental_or_physiological_process | |
MONDO:0010757 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member | UMLS:C1839112; OMIM:314570; MESH:C564040; MEDGEN:374133 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | 100-999 in 100,000 | autoimmune_diseases|neurodegenerative_disease | null | false | Widow's peak syndrome | [
"widow's peak syndrome"
] | hereditary_disease | other | disease_by_etiologic_mechanism | |
MONDO:0014346 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C4014321; OMIM:615785; MEDGEN:862758; GARD:0016012; DOID:0081288 | https://www.malacards.org/card/white_sponge_nevus_2 | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | neurodegenerative_disease|autoimmune_diseases|inflammatory_disease|cancer | null | false | White sponge nevus 2 | [
"white sponge nevus 2",
"White sponge Nevus type 2"
] | integumentary_system_disorder|hereditary_disease|disorder_of_development_or_morphogenesis|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0008676 | Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C4011926; OMIM:193900; MEDGEN:860363; GARD:0024637; DOID:0081287 | https://www.malacards.org/card/white_sponge_nevus_1 | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | neurodegenerative_disease|autoimmune_diseases|cancer|inflammatory_disease | null | false | White sponge nevus 1 | [
"white sponge nevus 1",
"hereditary mucosal leukokeratosis caused by mutation in KRT4",
"White sponge Nevus type 1",
"KRT4 hereditary mucosal leukokeratosis"
] | integumentary_system_disorder|hereditary_disease|disorder_of_development_or_morphogenesis|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0018269 | White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_hematologic_disorder; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rar... | UMLS:C2931293; SCTID:718553004; Orphanet:370131; MESH:C536702; MEDGEN:419379; GARD:0009282 | https://www.malacards.org/card/white_platelet_syndrome | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | autoimmune_diseases|anemia|inflammatory_disease | null | false | White platelet syndrome | [] | hereditary_disease|hematologic_disorder | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0001827 | A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_infectious_disease; mondo:harrisons_view_member | icd11.foundation:303653536; UMLS:C0040249; SCTID:35586003; MEDGEN:452113; ICD9:111.2; ICD10CM:B36.2; DOID:13902 | https://www.malacards.org/card/white_piedra | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | null | infection | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | metabolic_disorder|inflammatory_disease|allergy | null | false | White piedra | [
"Tinea blanca"
] | integumentary_system_disorder|infectious_disease | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0017918 | White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:orphanet_rare; mondo:ordo_malformation_syndrome; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rar... | UMLS:C2931292; Orphanet:3207; MESH:C536701; MEDGEN:419038; GARD:0012488 | https://www.malacards.org/card/white_matter_hypoplasia_corpus_callosum_agenesis_intellectual_disability_syndrome | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | null | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | null | false | null | null | null | null | metabolic_disorder|intellectual_disability_syndrome_does_not_exist_so_mental_health_disorder_is_a_better_fit_than_this|neurodegenerative_disease | null | false | White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome | [
"Curatolo-Cilio-Pessagno syndrome"
] | syndromic_disease | other | disease_by_body_system_or_component |
MONDO:0010199 | White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_cardiovascular_disorder; mondo:harrisons_view_disorder_of_development_or_morphogenesis; mondo:harrisons... | UMLS:C1848463; SCTID:763619009; Orphanet:2475; OMIM:277740; MESH:C536700; MEDGEN:376362; GARD:0010081 | https://www.malacards.org/card/white_forelock_with_malformations | false | false | false | false | false | false | true | false | true | true | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | neurodegenerative_disease|autoimmune_diseases|metabolic_disorder | null | false | White forelock with malformations | [
"white forelock with malformations"
] | cardiovascular_disorder|disorder_of_development_or_morphogenesis | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0016447 | White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | icd11.foundation:1989852752; UMLS:C4706484; Orphanet:228290; MEDGEN:1647664; GARD:0020587 | https://www.malacards.org/card/white_fibrous_papulosis_of_the_neck | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | autoimmune_diseases|inflammatory_disease | null | false | White fibrous papulosis of the neck | [] | integumentary_system_disorder | other | disease_by_body_system_or_component |
MONDO:0010197 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harriso... | UMLS:C1848470; OMIM:277720; MESH:C536699; MEDGEN:376364; GARD:0010024; DOID:0111606 | https://www.malacards.org/card/whistling_face_syndrome_recessive_form; https://www.malacards.org/card/autosomal_recessive_whistling_face_syndrome | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | false | false | false | false | false | false | true | false | false | null | false | null | null | null | null | neurodegenerative_disease|metabolic_disorder | null | false | Whistling face syndrome, recessive form | [
"whistling face syndrome, recessive form"
] | musculoskeletal_system_disorder|syndromic_disease|hereditary_disease|nervous_system_disorder|disorder_of_development_or_morphogenesis | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0005417 | A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_disorder_of_visual_system; mondo:ha... | UMLS:C2237660; SCTID:414173003; MESH:D057135; MEDGEN:389185; ICD9:362.52; GARD:0024181; EFO:0004683; DOID:10873 | https://www.malacards.org/card/kuhnt_junius_degeneration | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | true | false | false | false | false | true | false | null | false | null | null | False | 100-999 in 100,000 | metabolic_disorder|inflammatory_disease|neurodegenerative_disease | null | false | Wet macular degeneration | [
"wet age related macular degeneration",
"wet ARMD",
"wet AMD",
"exudative senile macular degeneration of retina"
] | hereditary_disease|nervous_system_disorder|disorder_of_visual_system | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0024183 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_nutritional_disorder; mondo:harrisons_view_member; mondo:doid_rare | icd11.foundation:1753713002; UMLS:C0268669; MEDGEN:541400; ICD10CM:E51.12; DOID:0070317 | https://www.malacards.org/card/wet_beriberi | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | cardiovascular_disorder|metabolic_disorder|inflammatory_disease | null | false | Wet beriberi | [] | nervous_system_disorder|nutritional_disorder | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component | |
MONDO:0019380 | An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altere... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_acute_disease; mondo:mondo_top_grouping_member; mondo:harrisons_view_nervou... | icd11.foundation:1543765035; UMLS:C0153064; SCTID:47523006; Orphanet:83593; NCIT:C85227; MedDRA:10014614; MESH:D020241; MEDGEN:57778; ICD9:062.1; ICD10CM:A83.1; GARD:0007888; EFO:0007546; DOID:10843 | https://www.malacards.org/card/western_equine_encephalitis | false | false | false | false | false | false | true | false | false | false | true | false | false | false | false | false | false | false | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | null | infection | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | true | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | neurodegenerative_disease|inflammatory_disease | null | false | Western equine encephalitis | [
"Western equine encephalomyelitis",
"Western equine encephalitis virus infectious encephalitis",
"Western equine encephalitis virus caused infectious encephalitis"
] | nervous_system_disorder|infectious_disease|inflammatory_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component|acute_disease |
MONDO:0016976 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_immune_system_disorder; mondo:harrisons_view_endocrine_system_disorder; mondo:harrisons_view_hematologic_disorder; mondo:h... | icd11.foundation:2004515128; UMLS:C4305465; SCTID:717922007; Orphanet:263331; MEDGEN:931134; GARD:0020895 | https://www.malacards.org/card/well_differentiated_thymic_neuroendocrine_carcinoma | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | false | false | true | false | false | true | true | false | false | false | true | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | cancer|thyroid_disease|adrenal_gland_disease | null | false | Well-differentiated thymic neuroendocrine carcinoma | [] | immune_system_disorder|endocrine_system_disorder|hematologic_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component | |
MONDO:0971140 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:gard_rare | UMLS:C5925093; Orphanet:675822; MEDGEN:1863523; GARD:0027198 | https://www.malacards.org/card/well_differentiated_papillary_mesothelial_tumour_of_the_pleura | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | cancer|mesothelioma|pleural_disease | null | false | Well-differentiated papillary mesothelial tumour of the pleura | [] | cancer_or_benign_tumor | other | disease_by_etiologic_mechanism | |
MONDO:0005103 | A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cel... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_connective_tissue_disorder; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:ot... | UMLS:C1370889; Orphanet:99971; ONCOTREE:WDLS; NCIT:C4250; MEDGEN:237164; ICDO:8851/3; GARD:0019721; EFO:0000736 | https://www.malacards.org/card/well_differentiated_liposarcoma | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | true | 3 | 0 | null | null | null | 3 | false | subgroup | neoplasm | false | false | false | true | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | cancer | null | false | Well-differentiated liposarcoma | [
"well-differentiated liposarcoma",
"WDLS"
] | connective_tissue_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0017292 | Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestatio... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_respiratory_system_disorder; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:o... | UMLS:C3873372; Orphanet:284395; NCIT:C45509; MEDGEN:843585; ICDO:8333/3; GARD:0021120 | https://www.malacards.org/card/well_differentiated_fetal_adenocarcinoma_of_the_lung | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | null | false | null | null | null | null | cancer|adrenal_gland_disease | null | false | Well-differentiated fetal adenocarcinoma of the lung | [
"well-differentiated foetal lung adenocarcinoma",
"well-differentiated fetal lung adenocarcinoma",
"pulmonary endodermal tumour resembling foetal lung",
"pulmonary endodermal tumor resembling fetal lung",
"pulmonary adenocarcinoma of foetal type",
"pulmonary adenocarcinoma of fetal type",
"foetal lung a... | respiratory_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0003688 | A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of s... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:otar | UMLS:C1337012; NCIT:C7635; MEDGEN:234487; ICDO:9052/1; DOID:5884 | https://www.malacards.org/card/benign_intermediate_mesothelioma | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | 1 | 0 | null | null | null | 1 | false | subgroup | neoplasm | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | null | false | null | null | null | null | cancer | null | false | Well differentiated papillary mesothelioma | [
"well-differentiated papillary tumour of the mesothelium",
"well-differentiated papillary tumour of mesothelium",
"well-differentiated papillary tumor of the mesothelium",
"well-differentiated papillary tumor of mesothelium",
"well-differentiated papillary neoplasm of the mesothelium",
"well-differentiate... | cancer_or_benign_tumor | other | disease_by_etiologic_mechanism |
MONDO:0043077 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_heredi... | UMLS:C2931289; MESH:C536688; MEDGEN:419765; GARD:0000392 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | inflammatory_disease|autoimmune_diseases|neurodegenerative_disease | null | false | Weinstein kliman scully syndrome | [] | syndromic_disease|hereditary_disease|reproductive_system_disorder|metabolic_disease|endocrine_system_disorder | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0003433 | A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member | UMLS:C0334321; NCIT:C4155; MEDGEN:83129; ICDO:8322/0; DOID:5401 | https://www.malacards.org/card/water_clear_cell_adenoma | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | neoplasm | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | benign | false | MONDO:0002082 | endocrine gland neoplasm | False | 1-9 in 100,000 | adrenal_gland_disease|cancer | null | false | Water-clear cell adenoma | [
"water-clear cell adenoma (morphologic abnormality)",
"parathyroid gland water-clear cell adenoma"
] | cancer_or_benign_tumor | other | disease_by_etiologic_mechanism |
MONDO:0022007 | A condition resulting from the excessive retention of water with sodium depletion. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_poisoning; mondo:harrisons_view_member | UMLS:C0043049; SCTID:71785001; MESH:D014869; MEDGEN:53061 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | null | false | null | null | True | <1 in 100,000 | metabolic_disorder|water_intoxication_can_also_be_related_to_neurological_disorders_but_the_primary_cause_is_due_to_imbalance_of_electrolytes_in_body_which_makes_it_a_metabolic_disorder | null | false | Water intoxication | [
"water intoxication syndrome"
] | poisoning | other | disease_by_etiologic_mechanism |
MONDO:0019077 | A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo... | icd11.foundation:1427186445; UMLS:C0334063; SCTID:254676008; Orphanet:69745; NCIT:C4087; MedDRA:10068856; MEDGEN:137717; GARD:0018899 | https://www.malacards.org/card/warty_dyskeratoma | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | neoplasm | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | benign | false | null | no_defined_location | True | <1 in 100,000 | autoimmune_diseases|cancer|inflammatory_disease | null | false | Warty dyskeratoma | [
"isolated follicular keratosis",
"follicular dyskeratoma"
] | integumentary_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0020649 | A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:... | UMLS:C1337009; ONCOTREE:WPSCC; NCIT:C6981; MEDGEN:234997; GARD:0025197 | null | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | cancer|adrenal_gland_disease | null | false | Warty carcinoma of the penis | [
"warty squamous cell carcinoma of the penis",
"warty squamous cell carcinoma of penis",
"warty penile squamous cell carcinoma",
"warty carcinoma of the penis",
"warty carcinoma of penis",
"squamous cell carcinoma of the penis, warty type",
"squamous cell carcinoma of the penis, condylomatous type",
"s... | reproductive_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0035473 | A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_immune_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | UMLS:C5568569; Orphanet:568056; MEDGEN:1799992; GARD:0022300 | https://www.malacards.org/card/warts_immunodeficiency_lymphedema_anogenital_dysplasia_syndrome | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | null | NNNI | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | true | null | false | null | null | null | null | inflammatory_disease|genital_dysplasia|lymphedema|autoimmune_diseases|cancer | null | false | Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome | [
"disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome",
"WILD syndrome"
] | syndromic_disease|immune_system_disorder | other | disease_by_body_system_or_component |
MONDO:0032579 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member; mondo:rare; mondo:gard_rare; mondo:clingen | UMLS:C5193019; OMIM:618175; MEDGEN:1677486; GARD:0015007 | https://www.malacards.org/card/warburg_cinotti_syndrome | true | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | null | false | null | null | True | <1 in 100,000 | metabolic_disorder|neurodegenerative_disease | null | false | Warburg-cinotti syndrome | [] | hereditary_disease | other | disease_by_etiologic_mechanism | |
MONDO:0042963 | A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and spl... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_immune_system_disorder; mondo:harrisons_view_hematologic_disorder; mondo:harrisons_view_member; mondo:rare; mondo:nord_rare; mondo:ncit_rare; mondo:gard_rare | UMLS:C0272414; SCTID:191384005; NORD:1836; NCIT:C85224; MESH:D050805; MEDGEN:75782; GARD:0000328 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | null | NNNI | false | false | false | false | false | false | false | false | false | true | true | false | false | false | false | false | false | false | false | false | false | false | false | false | true | null | false | null | null | null | null | metabolic_disorder|inflammatory_disease | null | false | Wandering spleen | [
"wandering spleen"
] | immune_system_disorder|hematologic_disorder | other | disease_by_body_system_or_component |
MONDO:0008669 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_immune_system_disorder; mondo:harrisons_view_inflamm... | UMLS:C1860357; OMIM:193450; MESH:C565993; MEDGEN:348089 | https://www.malacards.org/card/vulvovaginitis_allergic_seminal | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | true | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | NNNI | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | allergy|autoimmune_diseases|inflammatory_disease | null | false | Vulvovaginitis, allergic seminal | [
"vulvovaginitis, allergic seminal"
] | reproductive_system_disorder|immune_system_disorder|inflammatory_disease | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component | |
MONDO:0007019 | An inflammatory pathologic process that affects the vulva and the vagina. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_inflammatory_disease; mondo:harrisons_view_member; m... | UMLS:C0042998; SCTID:53277000; NCIT:C35131; MedDRA:10047794; MESH:D014848; MEDGEN:12129; EFO:1001240; DOID:2273 | https://www.malacards.org/card/vulvovaginitis | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | true | false | false | false | false | 4 | 0 | null | null | null | 4 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | true | false | null | false | null | null | False | 1,000-9,999 in 100,000 | inflammatory_disease|autoimmune_diseases | null | false | Vulvovaginitis | [] | reproductive_system_disorder|inflammatory_disease | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0019370 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | icd11.foundation:997964040; UMLS:C3873472; SCTID:707250009; Orphanet:83453; MEDGEN:848586; GARD:0019037 | https://www.malacards.org/card/vulvovaginal_gingival_syndrome | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | true | false | false | null | false | null | null | False | 1-9 in 100,000 | autoimmune_diseases|inflammatory_disease | null | false | Vulvovaginal gingival syndrome | [] | reproductive_system_disorder | other | disease_by_body_system_or_component | |
MONDO:0006014 | Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C0700345; SCTID:72605008; NCIT:C2914; MESH:D002181; MEDGEN:195979; ICD9:112.1; ICD10CM:B37.3; EFO:0007543; DOID:2272 | https://www.malacards.org/card/vulvovaginal_candidiasis | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | null | infection | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | inflammatory_disease|autoimmune_diseases | null | false | Vulvovaginal candidiasis | [
"vulvovaginal candidiasis",
"vaginal candidiasis",
"monilial vulvovaginitis",
"candidiasis of vulva and vagina",
"candidal: cervix",
"candidal: [vulvovaginitis NOS] or [cervix]",
"candidal vulvovaginitis"
] | integumentary_system_disorder|reproductive_system_disorder|infectious_disease|inflammatory_disease | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0021722 | Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_member | icd11.foundation:1539507119; UMLS:C0406670; SCTID:238968009; MESH:D056650; MEDGEN:96066; ICD9:625.70; ICD10CM:N94.81 | null | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | false | false | true | 0 | 0 | null | null | null | 0 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | true | false | false | false | true | false | null | false | null | null | False | 100-999 in 100,000 | autoimmune_diseases|inflammatory_disease | null | false | Vulvodynia | [
"vulvodynia"
] | reproductive_system_disorder|nervous_system_disorder | other | disease_by_body_system_or_component |
MONDO:0007018 | Inflammation of the vulva. It is characterized by pruritus and painful urination. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_inflammatory_disease; mondo:harrisons_view_member; m... | icd11.foundation:727252860; UMLS:C0042996; SCTID:63144007; MedDRA:10047780; MESH:D014847; MEDGEN:22690; EFO:1001239; DOID:3901 | https://www.malacards.org/card/vulvitis | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | false | false | 5 | 0 | null | null | null | 5 | false | clinically_recognized | NNNI | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | true | false | null | false | null | null | False | 10-99 in 100,000 | inflammatory_disease|autoimmune_diseases | null | false | Vulvitis | [
"mammalian vulva inflammation",
"inflammation of mammalian vulva"
] | reproductive_system_disorder|inflammatory_disease | other | disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0002201 | A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_cancer_or_benign_tu... | UMLS:C1520100; NCIT:C40314; MEDGEN:274418; DOID:2080 | https://www.malacards.org/card/vulvar_trichoepithelioma | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | inflammatory_disease|autoimmune_diseases|cancer | null | false | Vulvar trichoepithelioma | [
"vulvar trichoepithelioma",
"vulvar trichoblastoma",
"trichoblastoma of mammalian vulva",
"mammalian vulva trichoblastoma"
] | integumentary_system_disorder|reproductive_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0002190 | A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_cancer_or_benign_tu... | UMLS:C1520099; NCIT:C40311; MEDGEN:311490; DOID:2064 | https://www.malacards.org/card/vulvar_syringoma | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | autoimmune_diseases|cancer|inflammatory_disease | null | false | Vulvar syringoma | [
"vulvar syringoma",
"syringoma of mammalian vulva",
"mammalian vulva syringoma"
] | integumentary_system_disorder|reproductive_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0002195 | A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:otar | UMLS:C1520097; NCIT:C40283; MEDGEN:276998; DOID:2072 | null | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | false | false | false | false | false | 14 | 0 | null | null | null | 14 | false | grouping | neoplasm | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | cancer | null | false | Vulvar squamous neoplasm | [
"vulvar squamous tumour",
"vulvar squamous tumor",
"vulvar squamous neoplasm",
"mammalian vulva squamous cell neoplasm"
] | reproductive_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0024609 | An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguina... | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:... | icd11.foundation:146824338; UMLS:C0280856; SCTID:254895003; Orphanet:494448; NCIT:C4052; MEDGEN:79201; GARD:0022005; EFO:1000624; DOID:2101 | https://www.malacards.org/card/vulva_squamous_cell_carcinoma | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | true | 7 | 0 | null | null | null | 7 | false | subgroup | neoplasm | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | cancer | null | false | Vulvar squamous cell carcinoma | [
"vulvar squamous cell carcinoma",
"vulvar squamous cell cancer",
"vulvar epidermoid cell carcinoma",
"vulvar epidermoid carcinoma",
"vulva squamous cell carcinoma",
"vulva epidermoid cell carcinoma",
"vulva epidermoid carcinoma",
"squamous cell carcinoma of vulva",
"squamous cell carcinoma of the vu... | reproductive_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0006622 | A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_developmental_or_physiological_process; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons... | UMLS:C1336981; NCIT:C6375; MEDGEN:237055; GARD:0024446; DOID:6944 | https://www.malacards.org/card/vulvar_seborrheic_keratosis | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | 1 | 0 | null | null | null | 1 | false | subgroup | neoplasm | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | inflammatory_disease|cancer|autoimmune_diseases | null | false | Vulvar seborrheic keratosis | [
"seborrheic keratosis of vulva",
"seborrheic keratosis of the vulva",
"seborrheic keratosis of mammalian vulva",
"mammalian vulva seborrheic keratosis"
] | integumentary_system_disorder|hereditary_disease|reproductive_system_disorder|disorder_of_development_or_morphogenesis|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_developmental_or_physiological_process|disease_by_body_system_or_component |
MONDO:0003636 | A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_cancer_or_benign_tu... | UMLS:C1520094; NCIT:C40309; MEDGEN:276996; GARD:0023594; DOID:5761 | https://www.malacards.org/card/vulvar_sebaceous_carcinoma | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | autoimmune_diseases|cancer|inflammatory_disease | null | false | Vulvar sebaceous carcinoma | [
"sebaceous adenocarcinoma of mammalian vulva",
"mammalian vulva sebaceous adenocarcinoma"
] | integumentary_system_disorder|reproductive_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0004243 | An epithelioid sarcoma of the proximal type involving the vulva. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:... | UMLS:C1520093; NCIT:C40319; MEDGEN:276995; GARD:0023895; DOID:7491 | https://www.malacards.org/card/vulvar_proximal_type_epithelioid_sarcoma | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | sarcoma|cancer | null | false | Vulvar proximal-type epithelioid sarcoma | [] | reproductive_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0004213 | A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:... | UMLS:C1520092; NCIT:C40285; MEDGEN:311488; GARD:0023881; DOID:7409 | https://www.malacards.org/card/vulvar_non_keratinizing_squamous_cell_carcinoma | false | false | false | false | false | false | false | false | false | false | false | false | true | false | true | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | cancer|inflammatory_disease|autoimmune_diseases | null | false | Vulvar non-keratinizing squamous cell carcinoma | [] | reproductive_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0002188 | A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_cancer_or_benign_tu... | UMLS:C1520091; NCIT:C40312; MEDGEN:276994; DOID:2060 | https://www.malacards.org/card/vulvar_nodular_hidradenoma | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | true | false | false | false | false | true | 0 | 0 | null | null | null | 0 | false | subgroup | neoplasm | false | false | false | false | true | false | false | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | cancer|inflammatory_disease | null | false | Vulvar nodular hidradenoma | [
"vulvar nodular hidradenoma",
"nodular hidradenoma of mammalian vulva",
"mammalian vulva nodular hidradenoma"
] | integumentary_system_disorder|reproductive_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
MONDO:0056816 | A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disease_by_etiologic_mechanism; mondo:mondo_top_grouping_disease_by_body_system_or_component; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_endocrine_system_disorder; mondo:harrisons_view_cancer_or_benign_tumor;... | UMLS:C4288002; NCIT:C128243; MEDGEN:925534; GARD:0025992 | null | false | false | false | false | false | false | false | false | false | false | false | false | true | false | false | false | false | false | false | true | false | false | false | false | 1 | 0 | null | null | null | 1 | false | subgroup | neoplasm | false | false | false | false | false | false | true | false | false | false | false | false | false | false | true | false | false | false | false | true | false | false | false | false | false | null | false | null | null | null | null | cancer|neuroendocrine_carcinoma | null | false | Vulvar neuroendocrine carcinoma | [
"vulvar high grade Neuroendocrine neoplasm",
"vulvar high grade Neuroendocrine carcinoma",
"vulvar Neuroendocrine carcinoma",
"vulvar Neuroendocrine cancer",
"neuroendocrine carcinoma of mammalian vulva",
"mammalian vulva neuroendocrine carcinoma"
] | reproductive_system_disorder|endocrine_system_disorder|cancer_or_benign_tumor | other | disease_by_etiologic_mechanism|disease_by_body_system_or_component |
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