| Term Name: | multiple epiphyseal dysplasia 2 |
|---|---|
| Synonyms: | EDM2 |
| Definition: | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. |
| Ontology: | Human Disease [DOID:0070298] ( DOID:0070298 ) |