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Summary Literature (0)
DOID:0080028 - spondyloepimetaphyseal dysplasia, Strudwick type


Disease Ontology Definition:A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Synonyms:

In OMIM:
OMIM:184250 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK

In Mondo Disease Ontology:
MONDO:0008476 - spondyloepimetaphyseal dysplasia, Strudwick type

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : col2a1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): spondyloepimetaphyseal dysplasia (is_a)