DO_rare_slim NCIthesaurus has material basis in orofaciodigital syndrome I ICD10CM:Q87.0 NCI:C75481 UMLS_CUI:C0029294 UMLS_CUI:C0026363 MESH:D009958 UMLS_CUI:C1510460 SNOMEDCT_US_2025_09_01:52868006 DOID:0060316 ORDO:2750 2015-03-09T17:15:07Z Papillon-Leage-Psaume syndrome SNOMEDCT_US_2025_09_01:403773005 SNOMEDCT_US_2025_09_01:1779005 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. disease_ontology MIM:311200 orofaciodigital syndrome 1 orofaciodigital syndrome type I X-linked dominant disease orofaciodigital syndrome X-linked dominant inheritance