Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:diagnosedBy |
genetic testing
chromosome breakage test |
| gptkbp:firstDescribed |
2007
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type I
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:15q26.1
|
| gptkbp:mutationAssociatedWith |
gptkb:FANCI_gene
|
| gptkbp:OMIM |
609053
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:Fanconi_anemia
|
| gptkbp:symptom |
short stature
developmental delay skin pigmentation changes pancytopenia skeletal anomalies |
| gptkbp:treatment |
androgen therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:FANCI
|
| gptkbp:bfsLayer |
6
|