orofaciodigital syndrome V Disease Ontology Browser

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orofaciodigital syndrome V (DOID:0060375)
Alliance: disease page
Synonyms: OFD5; orofaciodigital syndrome Thurston type; polydactyly, postaxial, with median cleft of upper lip
Alt IDs: OMIM:174300, MESH:C557819, ORDO:2919, UMLS_CUI:C1868118
Definition: An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.

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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