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MIRAGE
spondyloepiphyseal dysplasia Kimberley type
Summary
- Synonym
-
- SEDK
- Definition
- A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.
- Super Class
- autosomal dominant disease spondyloepiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112282
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16112 | Aggrecan core protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000926 | Platyspondyly |
| HP:0002655 | Spondyloepiphyseal dysplasia |
| HP:0010306 | Short thorax |
| HP:0002983 | Micromelia |
| HP:0003508 | Proportionate short stature |
| HP:0002758 | Osteoarthritis |
| HP:0005930 | Abnormal epiphysis morphology |
| HP:0002970 | Genu varum |
| HP:0002857 | Genu valgum |
| HP:0002750 | Delayed skeletal maturation |
