| Metadata | |
|---|---|
| ID | DOID:0080028 |
| Name | spondyloepimetaphyseal dysplasia, Strudwick type |
| 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). http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type, http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has location some vertebral column has phenotype some Hyperlordosis has phenotype some Coxa vara has symptom some short stature has phenotype some Pectus carinatum has material basis in some autosomal dominant inheritance has phenotype some Platyspondyly has phenotype some Talipes equinovarus |