Term Name: | orofaciodigital syndrome V |
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Synonyms: | OFD5, orofaciodigital syndrome Thurston type, polydactyly, postaxial, with median cleft of upper lip |
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. |
Ontology: | Human Disease [DOID:0060375] ( DOID:0060375 ) |