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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14055 | Collagen alpha-2(IX) chain |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003028 | Abnormality of the ankle |
| HP:0006055 | Ulnar deviated club hands |
| HP:0002812 | Coxa vara |
| HP:0010631 | Abnormality of the epiphyses of the feet |
| HP:0003946 | Abnormality of the epiphyses of the elbow |
| HP:0002515 | Waddling gait |
| HP:0009189 | Fragmentation of the metacarpal epiphyses |
| HP:0003198 | Myopathy |
| HP:0012770 | Reduced arm span |
| HP:0002857 | Genu valgum |
