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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:0002815 | Abnormality of the knee |
| HP:0003999 | Abnormality of radial epiphyses |
| HP:0003071 | Flattened epiphysis |
| HP:0010886 | Osteochondritis dissecans |
| HP:0002136 | Broad-based gait |
| HP:0100694 | Tibial torsion |
| HP:0005715 | Flattened knee epiphyses |
| HP:0001385 | Hip dysplasia |
| HP:0010582 | Irregular epiphyses |
| HP:0002656 | Epiphyseal dysplasia |
