Search Ontology:
Human Disease
spondyloepimetaphyseal dysplasia, Strudwick type
- Term ID
- DOID:0080028
- Synonyms
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- 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). (2)
- References
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- GARD:134
- MIM:184250
- ORDO:93346
- Ontology
- Human Disease ( DOID:0080028 )
- is a type of
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Genes Involved
Zebrafish Models