spondyloperipheral dysplasia
Information
- Disease name
- spondyloperipheral dysplasia
- Disease ID
- DOID:0112195
- Description
- "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/15316962/, url:https\://pubmed.ncbi.nlm.nih.gov/8723097/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- MIM:271700
- Cross Reference ID (Disease Ontology)
- ORDO:1856
- Exact Synonym (Disease Ontology)
- spondyloperipheral dysplasia-short ulna syndrome