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Summary Literature (0)
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 pancytopenia, Fanconi panmyelopathy, Fanconi's anemia,

Echinobase Genes : brca2, rad51c, LOC576476, fancc, fancd2, fanca

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)