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Summary Literature (0)
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 : tctn3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009794 - orofaciodigital syndrome IV


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)