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gptkbp:instance_of
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gptkb:Genetics
|
|
gptkbp:associated_with
|
gptkb:Oncology
solid tumors
aplastic anemia
|
|
gptkbp:caused_by
|
mutations in genes
|
|
gptkbp:diagnosis
|
blood tests
genetic testing
|
|
gptkbp:discovered_by
|
Fanconi
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gptkbp:first_described_by
|
gptkb:1927
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Fanconi Anemia
|
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gptkbp:inherits_from
|
autosomal recessive
X-linked recessive
|
|
gptkbp:prevalence
|
rare disorder
|
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gptkbp:promoter
|
gptkb:XPG
gptkb:BRCA2
gptkb:FANCA
gptkb:FANCC
gptkb:FANCD2
gptkb:FANCF
gptkb:FANCL
gptkb:FANCM
gptkb:PALB2
gptkb:ERCC2
gptkb:ERCC3
gptkb:ERCC4
XPF
XPD
XPA
FANCG
FANCI
FANJN
XPC
XPE
ERCC5
FAN1
RAD51 C
RAD51 D
SLX4
XPF-ERCC4
|
|
gptkbp:research
|
gptkb:gene_therapy
clinical trials
ongoing studies
|
|
gptkbp:symptoms
|
increased cancer risk
short stature
skeletal abnormalities
bone marrow failure
|
|
gptkbp:treatment
|
supportive care
androgens
bone marrow transplant
|
|
gptkbp:bfsParent
|
gptkb:Fanconi_Anemia_Comprehensive_Care_Center
gptkb:National_Fanconi_Anemia_Registry
|
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gptkbp:bfsLayer
|
8
|