Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:associatedWith |
increased cancer risk
bone marrow failure |
| gptkbp:diagnosedBy |
genetic testing
chromosome breakage test |
| gptkbp:firstDescribed |
1996
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type G
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9p13
|
| gptkbp:mutationAssociatedWith |
gptkb:FANCG_gene
|
| gptkbp:OMIM |
602956
|
| gptkbp:prevalence |
very rare
|
| gptkbp:subclassOf |
gptkb:Fanconi_anemia
|
| gptkbp:symptom |
short stature
developmental abnormalities renal anomalies skin pigmentation changes progressive pancytopenia thumb anomalies |
| gptkbp:treatment |
blood transfusion
androgen therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:FANCG
|
| gptkbp:bfsLayer |
6
|