spondyloepiphyseal dysplasia
Information
- Disease name
- spondyloepiphyseal dysplasia
- Disease ID
- DOID:0112280
- Description
- "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs." [url:https\://emedicine.medscape.com/article/1260836-overview, url:https\://pubmed.ncbi.nlm.nih.gov/16080123/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| COL2A1 | 12 | 47,972,967 | 48,004,476 | 6 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:7687
- Exact Synonym (Disease Ontology)
- SED
- HPO alt_id (Human Phenotype Ontology)
- HP:0002776
- HPO alt_id (Human Phenotype Ontology)
- HP:0005893
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0002655
- ICD10 preferred id (Insert disease from ICD10)
- D0014066
- ICD10 class code (Insert disease from ICD10)
- Q77.7