| Term Name: | multiple epiphyseal dysplasia 3 |
|---|---|
| Synonyms: | EDM3, multiple epiphyseal dysplasia 3 with or without myopathy |
| Definition: | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. |
| Ontology: | Human Disease [DOID:0070304] ( DOID:0070304 ) |