Multiple Epiphyseal Dysplasia 3
Disease ID: disease_node_15637
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| Dbxref | MIM:600969 |
|---|---|
| Subclassof | DOID_0050736, DOID_0070305 |
| Data Source | DOID |
| Synonyms | EDM3, multiple epiphyseal dysplasia 3 with or without myopathy |
| Doid Label | multiple epiphyseal dysplasia 3 |
| Doid Description | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15637 |
| Doid Id | DOID_0070304 |
| Label | Multiple Epiphyseal Dysplasia 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly(ID:disease_node_15636) (Disease)