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spondyloepimetaphyseal dysplasia, Strudwick type
Summary
- 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).
- Super Class
- autosomal dominant disease spondyloepimetaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0080028
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P49585 | Choline-phosphate cytidylyltransferase A |
