| 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 |
has phenotype some Hyperlordosis disease has location some vertebral column has phenotype some Coxa vara has symptom some short stature has phenotype some Pectus carinatum has phenotype some Platyspondyly has material basis in some autosomal dominant inheritance has phenotype some Talipes equinovarus disease has location some sternum |