spondyloepiphyseal dysplasia congenita
Information
- Disease name
- spondyloepiphyseal dysplasia congenita
- Disease ID
- DOID:14789
- Description
- "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." [url:https\://pubmed.ncbi.nlm.nih.gov/1971141/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0112280
- Cross Reference ID (Disease Ontology)
- GARD:4987
- Cross Reference ID (Disease Ontology)
- MESH:C535788
- Cross Reference ID (Disease Ontology)
- MIM:183900
- Exact Synonym (Disease Ontology)
- Late Spondyloepiphyseal Dysplasia
- OrphaNumber from OrphaNet (Orphanet)
- 94068