orofaciodigital syndrome I (DOID:0060316)
Alliance: disease page
Synonyms: orofaciodigital syndrome 1; orofaciodigital syndrome type I; Papillon-Leage-Psaume syndrome
Alt IDs: OMIM:311200, ICD10CM:Q87.0, MESH:D009958, NCI:C75481, ORDO:2750, UMLS_CUI:C0026363, UMLS_CUI:C0029294, UMLS_CUI:C1510460
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.