Specific granule deficiency
Information
- Disease name
- Specific granule deficiency
- Disease ID
- Description
Disease area statistics
Chromosome band
Gene symbol | Chromosome | Start | Stop | The number of variant |
---|---|---|---|---|
CEBPE | 14 | 23,117,306 | 23,119,255 | 12 |
Annotation
Genes | Mutation | Description | Source | Links |
---|
- OMIM Phenotype Series Number (OMIM)
- PS245480
- MedGen concept unique identifier (MedGen Concept name)
- C0398593
- MedGen unique identifier (MedGen Concept name)
- 140766