| Term Name: | spondyloepiphyseal dysplasia Kimberley type |
|---|---|
| Synonyms: | SEDK |
| Definition: | A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. |
| Ontology: | Human Disease [DOID:0112282] ( DOID:0112282 ) |