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Fanconi anemia
rareFanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
- Identifiers
- MONDO:0019391 Orphanet:84
- Part of
- DNA repair diseaseBone marrow disorderCongenital anemiaDevelopmental anomaly of metabolic originInherited aplastic anemiaMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- Fanconi pancytopenia · Fanconi's anemia · pancytopenia, congenital · Panmyelopathy, Fanconi · primary erythroid hypoplasia
Subtypes
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