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Keyword Fanconi anemia

UniProtKB (17) rdf/xml obo
DefinitionProtein which, if defective, causes Fanconi anemia. Fanconi anemia is a rare recessive disorder characterized by progressive pancytopenia, hypoplasia of the bone marrow and patchy brown discoloration of the skin, due to melanin deposition. It is associated with multiple congenital anomalies of the musculoskeletal and genitourinary systems.
Synonyms Fanconi pancytopenia
CategoryDisease
GraphicalFanconi anemiaDisease