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Details on Person Fanconi anemia

Class:IdDisease:9704435
_displayNameFanconi anemia
_timestamp2020-10-09 14:45:44
created[InstanceEdit:9704438] Orlic-Milacic, Marija, 2020-10-09
definitionA congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
identifier13636
nameFanconi anemia
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymFanconi pancytopenia
Fanconi anaemia
Fanconi's anaemia
Fanconi's anemia
Fanconi panmyelopathy
(disease)[EntityWithAccessionedSequence:9704437] PALB2 Y551* [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704482] PALB2 R753* [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704749] PALB2 T841Qfs*10 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704790] PALB2 Y1183* [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704801] PALB2 Q988* [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704802] PALB2 V132Afs*45 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704807] PALB2 T799Lfs*53 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704808] PALB2 L253Yfs*26 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704819] PALB2 K1098Nfs*23 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704821] PALB2 N1039Ifs*2 [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by Fanconi anemia (9704435)