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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
- OMIM
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002857 | Genu valgum |
| HP:0003370 | Flat capital femoral epiphysis |
