mosaic variegated aneuploidy syndrome
Information
- Disease name
- mosaic variegated aneuploidy syndrome
- Disease ID
- DOID:0080688
- Description
- "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes." [url:https\://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| BUB1B | 15 | 40,161,069 | 40,221,123 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:3007
- Cross Reference ID (Disease Ontology)
- MESH:C536987
- Cross Reference ID (Disease Ontology)
- MIM:PS257300
- Cross Reference ID (Disease Ontology)
- ORDO:1052
- OMIM Phenotype Series Number (OMIM)
- PS257300
- OrphaNumber from OrphaNet (Orphanet)
- 1052
- MedGen concept unique identifier (MedGen Concept name)
- C1850343
- MedGen unique identifier (MedGen Concept name)
- 338026