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Summary Literature (0)
DOID:0112282 - spondyloepiphyseal dysplasia Kimberley type

Disease Ontology Definition:A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.

Synonyms: SEDK

Xenbase Genes : acan


MIM:
MIM:608361 - SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; SEDK

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), spondyloepiphyseal dysplasia (is_a)