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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
Echinobase Genes
:
brca2,
rad51c,
LOC576476,
fancc,
fancd2,
fanca
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital hypoplastic anemia (is_a)