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Summary Literature (0)
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 : ddx59

Mondo Disease Ontology (on Monarch Initiative):
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)