Term Name: Fanconi anemia
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 )

Relationships
is a type of: congenital hypoplastic anemia
has subtype: Fanconi anemia complementation group A Fanconi anemia complementation group B Fanconi anemia complementation group C Fanconi anemia complementation group D1 Fanconi anemia complementation group D2 Fanconi anemia complementation group E Fanconi anemia complementation group F Fanconi anemia complementation group G Fanconi anemia complementation group I Fanconi anemia complementation group J Fanconi anemia complementation group L Fanconi anemia complementation group N Fanconi anemia complementation group O Fanconi anemia complementation group P Fanconi anemia complementation group Q Fanconi anemia complementation group R Fanconi anemia complementation group S Fanconi anemia complementation group T Fanconi anemia complementation group U Fanconi anemia complementation group V Fanconi anemia complementation group W