Greig cephalopolysyndactyly syndrome

Summary

DOID:14761 - Greig cephalopolysyndactyly syndrome

Disease Ontology Definition:An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.

Synonyms: polysyndactyly with peculiars skull shape,

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

: gli3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008287 - Greig cephalopolysyndactyly syndrome

MONDO:0008287 - Greig cephalopolysyndactyly syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): acrocephalosyndactylia (is_a), autosomal dominant disease (is_a)