orofaciodigital syndrome IX

Summary

DOID:0060382 - orofaciodigital syndrome IX

Disease Ontology Definition:An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.

Synonyms: OFD9, orofaciodigital syndrome with retinal abnormalities

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

: tbc1d32

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009795 - orofaciodigital syndrome IX

MONDO:0009795 - orofaciodigital syndrome IX

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)