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. (Human Disease Ontology, DOID_13636)
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19 genes associated with the Fanconi Anemia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.