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Summary Literature (0)
DOID:0080030 - spondyloepimetaphyseal dysplasia, Missouri type

Disease Ontology Definition:A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.

Synonyms:

Xenbase Genes : mmp13

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011198 - muscle layer of large intestine

MIM:
MIM:602111 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE; SEMDM

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), spondyloepimetaphyseal dysplasia (is_a)