Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:associatedWith |
gptkb:FANCD2
|
| gptkbp:diagnosedBy |
chromosomal breakage test
|
| gptkbp:firstDescribed |
2002
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type D2
|
| gptkbp:ICD-10_code |
D61.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
3p25.3
|
| gptkbp:mutationAssociatedWith |
gptkb:FANCD2_gene
|
| gptkbp:OMIM |
227646
|
| gptkbp:partOf |
gptkb:Fanconi_anemia_complementation_groups
|
| gptkbp:prevalence |
very rare
|
| gptkbp:relatedTo |
gptkb:Fanconi_anemia
|
| gptkbp:symptom |
increased cancer risk
bone marrow failure developmental abnormalities |
| gptkbp:treatment |
blood transfusion
androgen therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Fanconi_anemia_complementation_group_D2
gptkb:Fanconi_anemia_group_D2_protein |
| gptkbp:bfsLayer |
7
|