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spondyloepimetaphyseal dysplasia, Strudwick type

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
Uniprot Description A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones.
Disease Ontology Description 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).
Mondo Term and Equivalent IDs
MONDO:0008476:  spondyloepimetaphyseal dysplasia, Strudwick type
GARD:0000134: 
Orphanet:93346: 
SCTID:702350003: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)