| Term Name: | multiple epiphyseal dysplasia 6 |
|---|---|
| Synonyms: | EDM6 |
| Definition: | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. |
| Ontology: | Human Disease [DOID:0070301] ( DOID:0070301 ) |