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multiple epiphyseal dysplasia 2
Summary
- Synonym
-
- EDM2
- Definition
- A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.
- Super Class
- autosomal dominant disease multiple epiphyseal dysplasia due to collagen 9 anomaly
External Links
- Disease Ontology
- DOID:0070298
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14055 | Collagen alpha-2(IX) chain |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004322 | Short stature |
| HP:0001324 | Muscle weakness |
| HP:0005930 | Abnormal epiphysis morphology |
| HP:0002970 | Genu varum |
| HP:0009826 | Limb undergrowth |
| HP:0002758 | Osteoarthritis |
| HP:0003365 | Arthralgia of the hip |
| HP:0010665 | Bilateral coxa valga |
| HP:0003045 | Abnormal patella morphology |
| HP:0006190 | Radially deviated wrists |
