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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0011800 | Midface retrusion |
| HP:0004279 | Short palm |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0009804 | Tooth agenesis |
| HP:0011463 | Childhood onset |
| HP:0003502 | Mild short stature |
| HP:0012378 | Fatigue |
| HP:0010585 | Small epiphyses |
| HP:0002007 | Frontal bossing |
| HP:0005086 | Knee osteoarthritis |
