congenital dyserythropoietic anemia
Information
- Disease name
- congenital dyserythropoietic anemia
- Disease ID
- DOID:1338
- Description
- "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood." [url:http\://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia, url:http\://www.ncbi.nlm.nih.gov/books/NBK5313/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| G6PD | X | 154,531,398 | 154,547,321 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03983629 | Unknown status | Registry of Congenital Dyserythropoietic Anemia | February 23, 2017 | February 2022 |
- Disase is a (Disease Ontology)
- DOID:589
- Cross Reference ID (Disease Ontology)
- GARD:1999
- Cross Reference ID (Disease Ontology)
- ICD10CM:D64.4
- Cross Reference ID (Disease Ontology)
- MESH:D000742
- Cross Reference ID (Disease Ontology)
- MIM:PS224120
- Cross Reference ID (Disease Ontology)
- NCI:C84646
- Cross Reference ID (Disease Ontology)
- ORDO:85
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:191272005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0002876
- Exact Synonym (Disease Ontology)
- congenital dyshaematopoietic anaemia
- OrphaNumber from OrphaNet (Orphanet)
- 85