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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, ORDO:2750, UMLS_CUI:C0026363, UMLS_CUI:C0029294, UMLS_CUI:C1510460
Definition: An orofaciodigital syndrome characterized by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory