spondyloepiphyseal dysplasia Kimberley type Disease Ontology Browser

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Disease Ontology Browser

spondyloepiphyseal dysplasia Kimberley type (DOID:0112282)
Alliance: disease page
Synonyms: SEDK
Alt IDs: OMIM:608361, MESH:C564252, ORDO:93283, UMLS_CUI:C1842149
Definition: A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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