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Echinobase
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:

Echinobase Genes :


OMIM:
MIM:602111 - spondyloepimetaphyseal dysplasia, missouri type

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): spondyloepimetaphyseal dysplasia (is_a)