Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:diagnosedBy |
chromosome breakage test
|
| gptkbp:firstDescribed |
1992
|
| gptkbp:gene |
gptkb:FANCC
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type C
|
| gptkbp:ICD-10_code |
D61.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
9q22.3
|
| gptkbp:mutationAssociatedWith |
gptkb:FANCC_gene
|
| gptkbp:OMIM |
227645
|
| gptkbp:prevalence |
higher in Ashkenazi Jewish population
|
| gptkbp:subspecies |
gptkb:Fanconi_anemia
|
| gptkbp:symptom |
developmental delay
pancytopenia |
| gptkbp:treatment |
hematopoietic stem cell transplantation
|
| gptkbp:bfsParent |
gptkb:Fanconi_anemia_complementation_group_C
|
| gptkbp:bfsLayer |
7
|