omodysplasia 2 (DOID:0080845)
Alliance: disease page
Alt IDs: OMIM:164745, MESH:C567664, UMLS_CUI:C2750355
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.