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MIRAGE
multiple epiphyseal dysplasia 3
Summary
- Synonym
-
- EDM3
- multiple epiphyseal dysplasia 3 with or without myopathy
- Definition
- A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.
- Super Class
- autosomal dominant disease multiple epiphyseal dysplasia due to collagen 9 anomaly
External Links
- Disease Ontology
- DOID:0070304
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14050 | Collagen alpha-3(IX) chain |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002815 | Abnormality of the knee |
| HP:0003999 | Abnormality of radial epiphyses |
