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Fanconi anemia

Disease Summary
Associated Targets (25)
Tbio

20

Tchem

3

Tclin

1

Tdark

1


GARD Rare
Mondo Description Fanconi 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.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0019391:  Fanconi anemia
GARD:0006425: 
MESH:D005199: 
NCIT:C62505: 
OMIMPS:227650: 
Orphanet:84: 
SCTID:30575002: 
UMLS:C0015625: