| Metadata | |
|---|---|
| ID | DOID:0070304 |
| Name | multiple epiphyseal dysplasia 3 |
| Definition | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/10090888 |
| Xrefs | |
| Synonyms |
EDM3 [EXACT] multiple epiphyseal dysplasia 3 with or without myopathy [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a multiple epiphyseal dysplasia due to collagen 9 anomaly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |