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Human Disease

spondyloepimetaphyseal dysplasia, Strudwick type

Term ID
DOID:0080028
Synonyms
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
Ontology
Human Disease   ( DOID:0080028 )
Relationships
is a type of
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Genes Involved
Zebrafish Models