orofaciodigital syndrome IV

Summary

DOID:0060374 - orofaciodigital syndrome IV

Disease Ontology Definition:An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.

Synonyms: Baraitser-Burn syndrome, OFD4,

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

: tctn3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009794 - orofaciodigital syndrome IV

MONDO:0009794 - orofaciodigital syndrome IV

Other Model Organisms: AGR, 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)