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Summary Literature (13)
DOID:13636 - Fanconi anemia

Disease Ontology Definition:A 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.

Synonyms: Fanconi anaemia, Fanconi pancytopenia, Fanconi panmyelopathy, Fanconi's anaemia, Fanconi's anemia,

Xenbase Genes : brca1, brip1, ube2t, mad2l2, fancl, fanci, slx4, fancd2, fancc, ercc4, fancm, fanca, rad51c, rad51, fance, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019391 - Fanconi anemia

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital hypoplastic anemia (is_a)