Terminology Service for NFDI4Health
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Instance info
Synonyms
Fanconi-Anämie (DE), Fanconi Hypoplastic Anemia, Anemia, Fanconi, Fanconi Anemias, Anämie, Fanconi- (DE), Fanconi's Anemia, Anemia, Fanconi's, Anemias, Fanconi, Fanconi Pancytopenia, Fanconi Panmyelopathy
AN
do not confuse with FANCONI SYNDROME, a dysfunction of proximal renal tubules
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
19910101
HN
2002(1975); was see under ANEMIA, APLASTIC 1975-1990
MDA
19741111
MMR
20130708
MN
C15.378.071.085.080.280,C18.452.284.280,C16.320.077.280,C15.378.190.196.080.280
PM
2002; see FANCONI'S ANEMIA 1991-2001; was see under ANEMIA, APLASTIC 1975-1990
QB
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
SIB
http://purl.bioontology.org/ontology/MESH/D014898,http://purl.bioontology.org/ontology/MESH/D029503,http://purl.bioontology.org/ontology/MESH/D014983,http://purl.bioontology.org/ontology/MESH/D016864,http://purl.bioontology.org/ontology/MESH/D049932,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D003123,http://purl.bioontology.org/ontology/MESH/D016511,http://purl.bioontology.org/ontology/MESH/D001260,http://purl.bioontology.org/ontology/MESH/D001816,http://purl.bioontology.org/ontology/MESH/D011038
TERMUI
T841429,T443844,T841427,T841428,T015953,T015952
TH
GHR (2014),ORD (2010),OMIM (2013),UNK (19XX),NLM (1975),NLM (2002)
cui
C0015625
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C565572,http://purl.bioontology.org/ontology/MESH/C565573,http://purl.bioontology.org/ontology/MESH/C563802,http://purl.bioontology.org/ontology/MESH/C563657,http://purl.bioontology.org/ontology/MESH/C563801,http://purl.bioontology.org/ontology/MESH/C537473,http://purl.bioontology.org/ontology/MESH/C564497,http://purl.bioontology.org/ontology/MESH/C563980
tui
T047
Instance relations
Types