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Disease Ontology Browser
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/05/2024
MGI 6.24 		The Jackson Laboratory