Human genes for Fanconi anemia
Fanconi anemia [DOID:13636]
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 anemia, DOID:13636, Fanconi pancytopenia, Fanconi panmyelopathy, Fanconi's anemia ...