Term Name: orofaciodigital syndrome V
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 )

Relationships
is a type of: autosomal recessive disease orofaciodigital syndrome