orofaciodigital syndrome I
orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene
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orofaciodigital syndrome I
Summary
orofaciodigital syndrome I is a rare disease[1]. It draws 31 Wikipedia views per month (rare_disease category, ranking #211 of 627).[2]
Key Facts
- orofaciodigital syndrome I's instance of is recorded as rare disease[3].
- orofaciodigital syndrome I's instance of is recorded as class of disease[4].
- orofaciodigital syndrome I's subclass of is recorded as oral-facial-digital syndrome[5].
- orofaciodigital syndrome I's subclass of is recorded as X-linked dominant disease[6].
- orofaciodigital syndrome I's OMIM ID is recorded as 311200[7].
- orofaciodigital syndrome I's DiseasesDB is recorded as 29898[8].
- orofaciodigital syndrome I's Disease Ontology ID is recorded as DOID:0060316[9].
- orofaciodigital syndrome I's Orphanet ID is recorded as 2750[10].
- orofaciodigital syndrome I's health specialty is recorded as medical genetics[11].
- orofaciodigital syndrome I's genetic association is recorded as OFD1[12].
- orofaciodigital syndrome I's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060316[13].
- orofaciodigital syndrome I's exact match is recorded as http://identifiers.org/doid/DOID:0060316[14].
- orofaciodigital syndrome I's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2750[15].
- orofaciodigital syndrome I's UMLS CUI is recorded as C0026363[16].
- orofaciodigital syndrome I's UMLS CUI is recorded as C0029294[17].
- orofaciodigital syndrome I's UMLS CUI is recorded as C1510460[18].
- orofaciodigital syndrome I's ICD-10-CM is recorded as Q87.0[19].
- orofaciodigital syndrome I's GARD rare disease ID is recorded as 4121[20].
- orofaciodigital syndrome I's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
- orofaciodigital syndrome I's Mondo ID is recorded as MONDO_0010702[22].
- orofaciodigital syndrome I's Microsoft Academic ID is recorded as 2778577727[23].
- orofaciodigital syndrome I's ICD-11 ID is recorded as 192000485[24].
- orofaciodigital syndrome I's WikiProjectMed ID is recorded as Orofaciodigital syndrome 1[25].
- orofaciodigital syndrome I's UniProt disease ID is recorded as DI-02099[26].
Why It Matters
orofaciodigital syndrome I draws 31 Wikipedia views per month (rare_disease category, ranking #211 of 627).[2] It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[27] It is known by 6 alternative names across languages and contexts.[28]