| 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://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type, http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |