Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:associatedWith |
short stature
developmental delay microcephaly renal anomalies skin pigmentation changes skeletal anomalies |
| gptkbp:diagnosedBy |
chromosomal breakage test
|
| gptkbp:firstDescribed |
1992
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:16q24.3
|
| gptkbp:locusTag |
gptkb:FANCA
|
| gptkbp:mutationAssociatedWith |
gptkb:FANCA_gene
|
| gptkbp:OMIM |
227650
|
| gptkbp:prevalence |
most common subtype of Fanconi anemia
|
| gptkbp:riskFactor |
gptkb:acute_myeloid_leukemia
solid tumors |
| gptkbp:subspecies |
gptkb:Fanconi_anemia
|
| gptkbp:symptom |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:treatment |
blood transfusion
androgen therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Fanca
gptkb:Fanconi_anemia_complementation_group_A |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type A
|