Datasets:
id stringlengths 13 13 | definition stringlengths 0 2.89k | subsets stringlengths 19 1.1k | crossreferences stringlengths 9 363 ⌀ | 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 23.1k | count_subtypes int64 0 112 | subset_group_id stringclasses 578 values | subset_group_label stringclasses 578 values | other_subsets_count int64 1 112 ⌀ | count_descendants_without_subtypes int64 0 23.1k | 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 stringlengths 2 4.89k ⌀ | harrisons_view stringlengths 0 223 | mondo_txgnn stringclasses 2 values | mondo_top_grouping stringlengths 0 237 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MONDO:0017545 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disorder_of_development_or_morphogenesis; mondo:mondo_top_grouping_chromosomal_disorder; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_musculoskeletal_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_chromosomal_disorder; mondo:harrisons_view_disorder_of_development_or_morphogenesis; mondo:harrisons_view_member; mondo:rare; mondo:ordo_subtype_of_a_disorder; mondo:nord_rare; mondo:gard_rare | 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 | disorder_of_development_or_morphogenesis|chromosomal_disorder|hereditary_disease|musculoskeletal_system_disorder | |
MONDO:0017544 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disorder_of_development_or_morphogenesis; mondo:mondo_top_grouping_chromosomal_disorder; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_musculoskeletal_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_chromosomal_disorder; mondo:harrisons_view_disorder_of_development_or_morphogenesis; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:ordo_subtype_of_a_disorder; mondo:nord_rare; mondo:gard_rare | 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 | disorder_of_development_or_morphogenesis|chromosomal_disorder|hereditary_disease|musculoskeletal_system_disorder | |
MONDO:0017543 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disorder_of_development_or_morphogenesis; mondo:mondo_top_grouping_chromosomal_disorder; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_musculoskeletal_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_chromosomal_disorder; mondo:harrisons_view_disorder_of_development_or_morphogenesis; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:ordo_subtype_of_a_disorder; mondo:nord_rare; mondo:gard_rare | 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 | disorder_of_development_or_morphogenesis|chromosomal_disorder|hereditary_disease|musculoskeletal_system_disorder | |
MONDO:0012351 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disorder_of_development_or_morphogenesis; mondo:mondo_top_grouping_chromosomal_disorder; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_musculoskeletal_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_chromosomal_disorder; mondo:harrisons_view_disorder_of_development_or_morphogenesis; mondo:harrisons_view_member; mondo:rare; mondo:ordo_subtype_of_a_disorder; mondo:nord_rare; mondo:gard_rare | 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 | disorder_of_development_or_morphogenesis|chromosomal_disorder|hereditary_disease|musculoskeletal_system_disorder | |
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_post_infectious_disorder; mondo:mondo_top_grouping_infectious_disease; mondo:mondo_top_grouping_integumentary_system_disorder; 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 | post_infectious_disorder|infectious_disease|integumentary_system_disorder |
MONDO:0004759 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_nervous_system_disorder; mondo:mondo_top_grouping_psychiatric_disorder; 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; bestiality | psychiatric_disorder|nervous_system_disorder | other | nervous_system_disorder|psychiatric_disorder | |
MONDO:0018586 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_integumentary_system_disorder; 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 | integumentary_system_disorder | |
MONDO:0011973 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_hereditary_disease; 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 | hereditary_disease | |
MONDO:0019949 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_nervous_system_disorder; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_musculoskeletal_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | 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 | null | musculoskeletal_system_disorder|hereditary_disease|nervous_system_disorder | other | nervous_system_disorder|hereditary_disease|musculoskeletal_system_disorder | |
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 YOPD forms. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_nervous_system_disorder; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_nervous_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | 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 | nervous_system_disorder|hereditary_disease |
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 are a diagnostic feature. (WHO) | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_cancer_or_benign_tumor; 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 central nervous system; yolk Sac tumor of CNS; intracranial yolk sac tumour; intracranial yolk sac tumor; intracranial endodermal sinus tumour; intracranial endodermal sinus tumor; endodermal sinus tumour of central nervous system; endodermal sinus tumour of CNS; endodermal sinus tumor of central nervous system; endodermal sinus tumor of CNS; central nervous system yolk Sac tumour; central nervous system yolk Sac tumor; CNS yolk Sac tumour; CNS yolk Sac tumor | cancer_or_benign_tumor | other | cancer_or_benign_tumor |
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 tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_cancer_or_benign_tumor; 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 tumour; yolk Sac tumor site unspecified; yolk Sac tumor; yolk Sac neoplasm; yolk SAC tumor, malignant; hepatoid yolk sac tumour; hepatoid yolk sac tumor; endodermal sinus tumour; endodermal sinus tumor; endodermal sinus neoplasm | cancer_or_benign_tumor | other | cancer_or_benign_tumor |
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_immune_system_disorder; mondo:mondo_top_grouping_cardiovascular_disorder; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_syndromic_disease; mondo:mondo_top_grouping_member; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_cardiovascular_disorder; mondo:harrisons_view_immune_system_disorder; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:ncit_rare; mondo:gard_rare | 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 | immune_system_disorder|cardiovascular_disorder|hereditary_disease|syndromic_disease |
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_infectious_disease; 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 | 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 | urban yellow fever; sylvatic yellow fever; jungle yellow fever; bronze John; Yellow fever, sylvan; 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 | infectious_disease |
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 Treponema pertenue, a subspecies of Treponema pallidum, causes the disease. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_infectious_disease; mondo:mondo_top_grouping_reproductive_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_infectious_disease; mondo:harrisons_view_member; mondo:rare; mondo:nord_rare; mondo:gard_rare | 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 | thymosis; polypapilloma tropicum; frambosie; 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 | infectious_disease|reproductive_system_disorder |
MONDO:0800412 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_hereditary_disease; 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 | null | hereditary_disease | other | hereditary_disease | |
MONDO:0010219 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_hereditary_disease; 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 | hereditary_disease | |
MONDO:0957786 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_syndromic_disease; 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 | null | syndromic_disease|hereditary_disease | other | hereditary_disease|syndromic_disease | |
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_disorder_of_visual_system; mondo:mondo_top_grouping_inflammatory_disease; mondo:mondo_top_grouping_syndromic_disease; mondo:mondo_top_grouping_disorder_of_orbital_region; mondo:mondo_top_grouping_member; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_inflammatory_disease; mondo:harrisons_view_disorder_of_visual_system; mondo:harrisons_view_member; mondo:rare; mondo:ncit_rare; mondo:gard_rare | UMLS:C0022575; SCTID:363677007; NCIT:C34503; MESH:D014985; MEDGEN:9620; ICD9:375.15; 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 | disorder_of_visual_system|inflammatory_disease|syndromic_disease|disorder_of_orbital_region |
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_hereditary_disease; mondo:mondo_top_grouping_syndromic_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:ncit_rare; mondo:gard_rare | icd11.foundation:2002862606; UMLS:C4304411; Orphanet:220295; NCIT:C156031; MEDGEN:930080; ICD10CM:Q82.1; 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 | true | 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 | hereditary_disease|syndromic_disease|integumentary_system_disorder |
MONDO:0800314 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_syndromic_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member; mondo:rare; mondo:nord_rare; mondo:gard_rare | 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 | hereditary_disease|syndromic_disease|integumentary_system_disorder | |
MONDO:0800313 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_syndromic_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member; mondo:rare; mondo:gard_rare | 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 | hereditary_disease|syndromic_disease|integumentary_system_disorder | |
MONDO:0008690 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:nord_rare; mondo:gard_rare | 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 | metabolic_disease|hereditary_disease|integumentary_system_disorder | |
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_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare; mondo:clingen | 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 | metabolic_disease|hereditary_disease|integumentary_system_disorder |
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_disorder_of_visual_system; mondo:mondo_top_grouping_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_syndromic_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_disorder_of_orbital_region; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_disorder_of_visual_system; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:nord_rare; mondo:gard_rare; mondo:clingen | 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; xeroderma pigmentosum VII; XPG; XP7; XP-G; XP group G; ERCC5 xeroderma pigmentosum | integumentary_system_disorder|syndromic_disease|hereditary_disease|metabolic_disease|disorder_of_visual_system | other | disorder_of_visual_system|metabolic_disease|hereditary_disease|syndromic_disease|integumentary_system_disorder|disorder_of_orbital_region |
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_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_syndromic_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:nord_rare; mondo:gard_rare; mondo:clingen | 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; xeroderma pigmentosum VI; XPF; XP6; XP-F; XP, group F; XP group F; ERCC4 xeroderma pigmentosum | integumentary_system_disorder|syndromic_disease|hereditary_disease|metabolic_disease | other | metabolic_disease|hereditary_disease|syndromic_disease|integumentary_system_disorder |
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_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:nord_rare; mondo:gard_rare; mondo:clingen | 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; xeroderma pigmentosum V; XPE; XP5; XP-E; XP group E | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | metabolic_disease|hereditary_disease|integumentary_system_disorder |
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_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_syndromic_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:nord_rare; mondo:gard_rare; mondo:clingen | 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; xeroderma pigmentosum VIII; xeroderma pigmentosum IV; XPH; XPDC; XPD; XP8; XP4; XP-D; XP group H; XP group D; ERCC2 xeroderma pigmentosum | integumentary_system_disorder|syndromic_disease|hereditary_disease|metabolic_disease | other | metabolic_disease|hereditary_disease|syndromic_disease|integumentary_system_disorder |
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_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:nord_rare; mondo:gard_rare; mondo:clingen | 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; xeroderma pigmentosum III; XPCC; XPC; XP3; XP-C; XP group C | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | metabolic_disease|hereditary_disease|integumentary_system_disorder |
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_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_syndromic_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_syndromic_disease; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:nord_rare; mondo:gard_rare; mondo:clingen | 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; XP group B; ERCC3 xeroderma pigmentosum | integumentary_system_disorder|syndromic_disease|hereditary_disease|metabolic_disease | other | metabolic_disease|hereditary_disease|syndromic_disease|integumentary_system_disorder |
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_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:nord_rare; mondo:gard_rare; mondo:clingen | 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 complementation group A; xeroderma pigmentosum caused by mutation in XPA; xeroderma pigmentosum 1; XPA xeroderma pigmentosum; XPA; XP1; XP-A; XP group A | integumentary_system_disorder|hereditary_disease|metabolic_disease | other | metabolic_disease|hereditary_disease|integumentary_system_disorder |
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_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:mondo_subtype; mondo:rare; mondo:otar; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | 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 | 9 | 9 | null | null | null | 0 | 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 | metabolic_disease|hereditary_disease|integumentary_system_disorder |
MONDO:0004718 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disorder_of_visual_system; mondo:mondo_top_grouping_inflammatory_disease; mondo:mondo_top_grouping_disorder_of_orbital_region; 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 | null | inflammatory_disease|disorder_of_visual_system | other | disorder_of_visual_system|inflammatory_disease|disorder_of_orbital_region | |
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_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:gard_rare | 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; xanthelasmatosis | hereditary_disease|metabolic_disease | other | metabolic_disease|hereditary_disease |
MONDO:0015535 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_immune_system_disorder; 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 | immune_system_disorder | |
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_metabolic_disease; 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 | metabolic_disease |
MONDO:0027091 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_inflammatory_disease; mondo:mondo_top_grouping_mouth_disorder; mondo:mondo_top_grouping_immune_system_disorder; 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 | inflammatory_disease|mouth_disorder|immune_system_disorder | |
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_inflammatory_disease; mondo:mondo_top_grouping_infectious_disease; mondo:mondo_top_grouping_reproductive_system_disorder; mondo:mondo_top_grouping_urinary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_urinary_system_disorder; mondo:harrisons_view_reproductive_system_disorder; mondo:harrisons_view_infectious_disease; mondo:harrisons_view_inflammatory_disease; mondo:harrisons_view_member; mondo:otar | 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 | inflammatory_disease|infectious_disease|reproductive_system_disorder|urinary_system_disorder |
MONDO:0004875 | Cholecystitis that is characterized by nodules containing lipid. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_inflammatory_disease; mondo:mondo_top_grouping_endocrine_system_disorder; mondo:mondo_top_grouping_digestive_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_digestive_system_disorder; mondo:harrisons_view_endocrine_system_disorder; mondo:harrisons_view_inflammatory_disease; mondo:harrisons_view_member | 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 | null | digestive_system_disorder|endocrine_system_disorder|inflammatory_disease | other | inflammatory_disease|endocrine_system_disorder|digestive_system_disorder |
MONDO:0024617 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_immune_system_disorder; 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 | immune_system_disorder | |
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 common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:ordo_subtype_of_a_disorder; mondo:ordo_etiological_subtype; mondo:nord_rare; mondo:gard_rare; mondo:clingen | 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 | metabolic_disease|hereditary_disease |
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 others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:ordo_subtype_of_a_disorder; mondo:ordo_etiological_subtype; mondo:nord_rare; mondo:gard_rare | 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 | metabolic_disease|hereditary_disease |
MONDO:0000721 | A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_metabolic_disease; 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 | null | metabolic_disease | other | metabolic_disease |
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_nervous_system_disorder; mondo:mondo_top_grouping_psychiatric_disorder; 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 | null | psychiatric_disorder|nervous_system_disorder | other | nervous_system_disorder|psychiatric_disorder |
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- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disorder_of_development_or_morphogenesis; mondo:mondo_top_grouping_metabolic_disease; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_musculoskeletal_system_disorder; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_metabolic_disease; mondo:harrisons_view_disorder_of_development_or_morphogenesis; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:ordo_subtype_of_a_disorder; mondo:nord_rare; mondo:gard_rare | 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 | disorder_of_development_or_morphogenesis|metabolic_disease|hereditary_disease|musculoskeletal_system_disorder|integumentary_system_disorder |
MONDO:0015622 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_infectious_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_infectious_disease; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | 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 | infectious_disease|integumentary_system_disorder | |
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_infectious_disease; 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 | infectious_disease |
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 signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_musculoskeletal_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:orphanet_rare; mondo:ordo_malformation_syndrome; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | 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 | hereditary_disease|musculoskeletal_system_disorder |
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 ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_disorder_of_development_or_morphogenesis; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_disorder_of_development_or_morphogenesis; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | 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 | disorder_of_development_or_morphogenesis|hereditary_disease|integumentary_system_disorder |
MONDO:0010207 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_syndromic_disease; 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 | syndromic_disease | |
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_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_member; mondo:rare; mondo:nord_rare; mondo:gard_rare | 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 | hereditary_disease|integumentary_system_disorder |
MONDO:0800312 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_integumentary_system_disorder; 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 | integumentary_system_disorder | |
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 to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_cancer_or_benign_tumor; mondo:mondo_top_grouping_disorder_of_development_or_morphogenesis; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_disorder_of_development_or_morphogenesis; 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: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 | cancer_or_benign_tumor|disorder_of_development_or_morphogenesis|hereditary_disease|integumentary_system_disorder |
MONDO:0957307 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_hereditary_disease; 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 | null | hereditary_disease | other | hereditary_disease | |
MONDO:0018018 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_metabolic_disease; mondo:mondo_top_grouping_cardiovascular_disorder; mondo:mondo_top_grouping_musculoskeletal_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_musculoskeletal_system_disorder; mondo:harrisons_view_cardiovascular_disorder; 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: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 | metabolic_disease|cardiovascular_disorder|musculoskeletal_system_disorder | |
MONDO:0019440 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_metabolic_disease; 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 | metabolic_disease | |
MONDO:0010757 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_hereditary_disease; 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 | hereditary_disease | |
MONDO:0014346 | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_cancer_or_benign_tumor; mondo:mondo_top_grouping_disorder_of_development_or_morphogenesis; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_disorder_of_development_or_morphogenesis; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:nord_rare; mondo:gard_rare | 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 | cancer_or_benign_tumor|disorder_of_development_or_morphogenesis|hereditary_disease|integumentary_system_disorder | |
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_cancer_or_benign_tumor; mondo:mondo_top_grouping_disorder_of_development_or_morphogenesis; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_integumentary_system_disorder; mondo:mondo_top_grouping_member; mondo:harrisons_view_integumentary_system_disorder; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_disorder_of_development_or_morphogenesis; mondo:harrisons_view_cancer_or_benign_tumor; mondo:harrisons_view_member; mondo:rare; mondo:otar; mondo:nord_rare; mondo:gard_rare | 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 | cancer_or_benign_tumor|disorder_of_development_or_morphogenesis|hereditary_disease|integumentary_system_disorder |
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_hematologic_disorder; mondo:mondo_top_grouping_hereditary_disease; mondo:mondo_top_grouping_member; mondo:harrisons_view_hereditary_disease; mondo:harrisons_view_hematologic_disorder; mondo:harrisons_view_member; mondo:rare; mondo:orphanet_rare; mondo:ordo_disorder; mondo:nord_rare; mondo:gard_rare | 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 | null | hereditary_disease|hematologic_disorder | other | hematologic_disorder|hereditary_disease |
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_infectious_disease; mondo:mondo_top_grouping_integumentary_system_disorder; 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 | infectious_disease|integumentary_system_disorder |
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); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition. | mondo:mondo_txgnn_other; mondo:mondo_top_grouping_syndromic_disease; 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_rare | 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 | syndromic_disease |
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Dataset Card for Every Cure Disease List
Dataset Summary
The Every Cure Disease List
The Every Cure disease list is a flat list with disease terms derived from the Mondo disease ontology and enriched with various features by the Every Cure team that are relevant to drug repurposing.
For more information see here.
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