spondyloepiphyseal dysplasia Kimberley type

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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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: acan

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)