OBO ID: DOID:0112282 |
Term Name: | spondyloepiphyseal dysplasia Kimberley type | Search Ontology: | |
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Definition: | A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. (2) | ||
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Ontology: | Human Disease ( DOID:0112282 ) |
OTHER spondyloepiphyseal dysplasia Kimberley type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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