|OBO ID: DOID:0080028|
|Term Name:||spondyloepimetaphyseal dysplasia, Strudwick type||Search 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). (4)|
|Ontology:||Human Disease (DOID:0080028)|
|is a type of:||
OTHER spondyloepimetaphyseal dysplasia, Strudwick type PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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