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MIRAGE
multiple epiphyseal dysplasia 6
Summary
- Synonym
-
- EDM6
- Definition
- A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.
- Super Class
- autosomal dominant disease multiple epiphyseal dysplasia due to collagen 9 anomaly
External Links
- Disease Ontology
- DOID:0070301
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20849 | Collagen alpha-1(IX) chain |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003198 | Myopathy |
| HP:0002758 | Osteoarthritis |
| HP:0010631 | Abnormality of the epiphyses of the feet |
| HP:0006190 | Radially deviated wrists |
| HP:0001324 | Muscle weakness |
| HP:0006055 | Ulnar deviated club hands |
| HP:0010665 | Bilateral coxa valga |
| HP:0002857 | Genu valgum |
| HP:0003999 | Abnormality of radial epiphyses |
| HP:0002515 | Waddling gait |
