Disease-gene associations mined from literature

Human genes for orofaciodigital syndrome V

Orofaciodigital syndrome V [DOID:0060375]

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.

Synonyms:  orofaciodigital syndrome V,  DOID:0060375,  orofaciodigital syndrome Vs,  OFD5,  orofaciodigital syndrome Thurston type ...