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Summary Literature (0)
DOID:0080845 - omodysplasia 2

Disease Ontology Definition:An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21.

Synonyms:

Xenbase Genes :


MIM:
MIM:164745 - OMODYSPLASIA 2; OMOD2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), omodysplasia (is_a)