Statements (56)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
congenital anemia ribosomopathy |
| gptkbp:affects |
red blood cell production
|
| gptkbp:associatedWith |
gptkb:RPL11
gptkb:RPL5 gptkb:RPL3 gptkb:RPS19 RPL15 RPL18 RPL19 RPL26 RPL27 RPL27A RPL30 RPL31 RPL35 RPL35A RPL9 RPS10 RPS15 RPS17 RPS24 RPS26 RPS28 RPS29 RPS7 |
| gptkbp:causedBy |
autosomal dominant inheritance
mutation in ribosomal protein genes sporadic mutation |
| gptkbp:complication |
increased cancer risk
iron overload |
| gptkbp:firstDescribed |
1938
|
| https://www.w3.org/2000/01/rdf-schema#label |
Diamond-Blackfan anemia
|
| gptkbp:ICD-10_code |
D61.0
|
| gptkbp:inheritance |
autosomal dominant
sporadic |
| gptkbp:namedAfter |
gptkb:Louis_K._Diamond
Kenneth Blackfan |
| gptkbp:OMIM |
105650
|
| gptkbp:prevalence |
5 to 7 per million live births
|
| gptkbp:symptom |
gptkb:anemia
fatigue short stature heart defects thumb abnormalities pallor craniofacial abnormalities |
| gptkbp:treatment |
corticosteroids
blood transfusions hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:RPL11
gptkb:RPL5 gptkb:GATA1 gptkb:ribosomal_protein_L15 |
| gptkbp:bfsLayer |
7
|