spondyloepimetaphyseal dysplasia, Strudwick type
Information
- Disease name
- spondyloepimetaphyseal dysplasia, Strudwick type
- Disease ID
- DOID:0080028
- 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)." [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type, url:http\://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080027
- Cross Reference ID (Disease Ontology)
- GARD:134
- Cross Reference ID (Disease Ontology)
- MIM:184250
- Cross Reference ID (Disease Ontology)
- ORDO:93346