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Metadata
ID DOID:0060316
Name orofaciodigital syndrome I
Definition An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1, https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance
Xrefs

ICD10CM:Q87.0

MESH:D009958

NCI:C75481

OMIM:311200

ORDO:2750

SNOMEDCT_US_2023_03_01:1779005

SNOMEDCT_US_2023_03_01:403773005

SNOMEDCT_US_2023_03_01:52868006

UMLS_CUI:C0026363

UMLS_CUI:C0029294

UMLS_CUI:C1510460

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

orofaciodigital syndrome 1 [EXACT]

orofaciodigital syndrome type I [EXACT]

Papillon-Leage-Psaume syndrome [EXACT]

Parent Relationships

is_a orofaciodigital syndrome

is_a X-linked dominant disease

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