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Echinobase
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:

Echinobase Genes : col2a1


OMIM:
MIM:184250 - spondyloepimetaphyseal dysplasia, strudwick type; semdstwk

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)