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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:

Xenbase Genes : col2a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008476 - spondyloepimetaphyseal dysplasia, Strudwick type


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)