| Metadata | |
|---|---|
| ID | DOID:0070305 |
| Name | multiple epiphyseal dysplasia due to collagen 9 anomaly |
| Definition | A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). https://www.ncbi.nlm.nih.gov/pubmed/10090888, https://www.ncbi.nlm.nih.gov/pubmed/11891674 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a multiple epiphyseal dysplasia is_a monogenic disease |