orofaciodigital syndrome XVIII

Summary

DOID:0060961 - orofaciodigital syndrome XVIII

Disease Ontology Definition:An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.

Synonyms: Oral-facial-digital syndrome type 18, Oral-facial-digital syndrome with short stature and brachymesophalangy, Orofaciodigital syndrome type 18,

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

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)