Bloom syndrome
Information
- Disease name
- Bloom syndrome
- Disease ID
- DOID:2717
- Description
- "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability." [url:http\://ghr.nlm.nih.gov/condition/bloom-syndrome, url:https\://en.wikipedia.org/wiki/Bloom_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/10823897, url:https\://www.ncbi.nlm.nih.gov/pubmed/9482582]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| RMI1 | 9 | 83,980,798 | 84,004,074 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00021437 | Completed | Biological Significance of the Bloom's Syndrome Protein |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MESH:D001816
- Cross Reference ID (Disease Ontology)
- MIM:210900
- Cross Reference ID (Disease Ontology)
- NCI:C2903
- Cross Reference ID (Disease Ontology)
- ORDO:125
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:4434006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0005859
- Exact Synonym (Disease Ontology)
- Bloom-Torre-Machacek syndrome
- Exact Synonym (Disease Ontology)
- Congenital Telangiectatic Erythema syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 125
- MeSH unique ID (MeSH (Medical Subject Headings))
- D001816