| Metadata | |
|---|---|
| ID | DOID:0070298 |
| Name | multiple epiphyseal dysplasia 2 |
| Definition | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/8528240 |
| Xrefs | |
| Synonyms |
EDM2 [EXACT] |
| Parent Relationships |
is_a multiple epiphyseal dysplasia due to collagen 9 anomaly |