Term Name: | omodysplasia 2 |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080845] ( DOID:0080845 ) |