Version: 8.0.0
Date: Tue Jan 28 2025
Fanconi anemia
DOID:13636
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Fanconi 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.
Synonyms
  • Fanconi anaemia
  • Fanconi pancytopenia
Cross References
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Sources of Associations

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