Congenital Dyserythropoietic Anemia
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
hereditary anemia |
| gptkbp:affects |
red blood cells
|
| gptkbp:characterizedBy |
ineffective erythropoiesis
morphological abnormalities of erythroblasts |
| gptkbp:diagnosedBy |
genetic testing
bone marrow biopsy blood smear |
| gptkbp:firstDescribed |
1960s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Congenital Dyserythropoietic Anemia
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D003372
|
| gptkbp:OMIM |
224120
|
| gptkbp:subspecies |
CDA type I
CDA type II CDA type III CDA type IV |
| gptkbp:symptom |
gptkb:anemia
jaundice splenomegaly |
| gptkbp:treatment |
gptkb:splenectomy
blood transfusion hematopoietic stem cell transplantation iron chelation therapy |
| gptkbp:bfsParent |
gptkb:CDD
|
| gptkbp:bfsLayer |
5
|