Term Name: | Fanconi anemia |
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Synonyms: | Fanconi anaemia, Fanconi pancytopenia, Fanconi panmyelopathy, Fanconi's anaemia, Fanconi's anemia |
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. |
Ontology: | Human Disease [DOID:13636] ( DOID:13636 ) |