OBO ID: DOID:0080028
Term Name: spondyloepimetaphyseal dysplasia, Strudwick type Search Ontology:
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:
OTHER spondyloepimetaphyseal dysplasia, Strudwick type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL2A1 SMED Strudwick type 184250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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