brachyolmia
Information
- Disease name
- brachyolmia
- Disease ID
- DOID:0050690
- Description
- "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10968486]
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)
- GARD:10903
- Cross Reference ID (Disease Ontology)
- MESH:C537098
- Cross Reference ID (Disease Ontology)
- MIM:113500
- Cross Reference ID (Disease Ontology)
- MIM:271530
- Cross Reference ID (Disease Ontology)
- MIM:271630
- Cross Reference ID (Disease Ontology)
- MIM:613678
- Cross Reference ID (Disease Ontology)
- ORDO:1293
- Exact Synonym (Disease Ontology)
- brachyrachia
- OrphaNumber from OrphaNet (Orphanet)
- 1293