Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Fanconi Anemia
Synonyms

Fanconi Anemias
Definitions

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)
ID

http://purl.bioontology.org/ontology/MESH/D005199
altLabel

Fanconi Anemias

Fanconi's Anemia

Anemias, Fanconi

Fanconi Panmyelopathy

Anemia, Fanconi's

Fanconi Hypoplastic Anemia

Fanconi Pancytopenia

Anemia, Fanconi
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
cui

C0015625
DC

1
definition

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)
DX

19910101
HN

2002(1975); was see under ANEMIA, APLASTIC 1975-1990
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D001816

http://purl.bioontology.org/ontology/MESH/D014898

http://purl.bioontology.org/ontology/MESH/D049932

http://purl.bioontology.org/ontology/MESH/D014983

http://purl.bioontology.org/ontology/MESH/D029503

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D016864

http://purl.bioontology.org/ontology/MESH/D003123

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D011038

http://purl.bioontology.org/ontology/MESH/D016511
Machine permutation

2002; see FANCONI'S ANEMIA 1991-2001; was see under ANEMIA, APLASTIC 1975-1990
Mapped from

http://purl.bioontology.org/ontology/MESH/C537473

http://purl.bioontology.org/ontology/MESH/C563801

http://purl.bioontology.org/ontology/MESH/C563980

http://purl.bioontology.org/ontology/MESH/C564497

http://purl.bioontology.org/ontology/MESH/C565572

http://purl.bioontology.org/ontology/MESH/C563657

http://purl.bioontology.org/ontology/MESH/C563802

http://purl.bioontology.org/ontology/MESH/C565573
MDA

19741111
MMR

20130708
MN

C16.320.077.280

C18.452.284.280

C15.378.190.196.080.280

C15.378.071.085.080.280
notation

D005199
prefLabel

Fanconi Anemia
TERMUI

T015952

T841427

T015953

T443844

T841429

T841428
TH

NLM (1975)

UNK (19XX)

NLM (2002)

ORD (2010)

OMIM (2013)

GHR (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D049914

http://purl.bioontology.org/ontology/MESH/D029502
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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62505 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/DOID_13636 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/D61.09 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0015625 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0015625 MedlinePlus Health Topics LOOM