orofaciodigital syndrome V

Summary

DOID:0060375 - orofaciodigital syndrome V

Disease Ontology 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.

Synonyms: OFD5, orofaciodigital syndrome Thurston type, polydactyly, postaxial, with median cleft of upper lip

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ddx59

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008267 - orofaciodigital syndrome V

MONDO:0008267 - orofaciodigital syndrome V

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), orofaciodigital syndrome (is_a)