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 )

Relationships
is a type of: autosomal dominant disease omodysplasia