|
gptkbp:instance_of
|
gptkb:physicist
|
|
gptkbp:bfsLayer
|
6
|
|
gptkbp:bfsParent
|
gptkb:Fanconi_Anemia_Comprehensive_Care_Center
gptkb:National_Fanconi_Anemia_Registry
|
|
gptkbp:associated_with
|
gptkb:healthcare_organization
solid tumors
aplastic anemia
|
|
gptkbp:caused_by
|
mutations in genes
|
|
gptkbp:descendant
|
autosomal recessive
X-linked recessive
|
|
gptkbp:discovered_by
|
Fanconi
|
|
gptkbp:first_described_by
|
gptkb:1927
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Fanconi Anemia
|
|
gptkbp:is_popular_in
|
rare disorder
|
|
gptkbp:promoter
|
gptkb:XPG
gptkb:FANCA
gptkb:FANCC
gptkb:FANCF
gptkb:FANCL
gptkb:FANCM
XPF
XPD
XPA
BRC A2
FANC D2
PAL B2
ERC C2
ERC C3
ERC C4
FANCG
FANCI
FANJN
ERC C5
FA N1
RA D51 C
RA D51 D
SL X4
XPC
XPE
XPF-ERC C4
|
|
gptkbp:research
|
gptkb:physicist
clinical trials
ongoing studies
|
|
gptkbp:social_responsibility
|
blood tests
genetic testing
|
|
gptkbp:symptoms
|
increased cancer risk
short stature
skeletal abnormalities
bone marrow failure
|
|
gptkbp:treatment
|
supportive care
androgens
bone marrow transplant
|