"orofaciodigital syndrome 1"@en . "SNOMEDCT_US_2021_09_01:52868006"^^ . "UMLS_CUI:C0026363"^^ . . . "orofaciodigital syndrome I"^^ . "SNOMEDCT_US_2021_09_01:403773005"^^ . "OMIM:311200"^^ . "UMLS_CUI:C1510460"^^ . "2015-03-09T17:15:07Z"^^ . _:vb50938635 . "MESH:D009958"^^ . . "disease_ontology"^^ . "emitraka"^^ . "ICD10CM:Q87.0"^^ . _:vb50938635 . . _:vb50938635 . "Papillon-Leage-Psaume syndrome"@en . "orofaciodigital syndrome type I"@en . "UMLS_CUI:C0029294"^^ . "NCI:C75481"^^ . "ORDO:2750"^^ . "SNOMEDCT_US_2021_09_01:1779005"^^ . _:vb50938635 . "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."^^ . "DOID:0060316"^^ . . _:vb50938635 .