Term Name: Fanconi anemia complementation group D2
Synonyms: FA4, FAD2, FANCD2, Fanconi pancytopenia type 4
Definition: A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.
Ontology: Human Disease [DOID:0111083]   ( DOID:0111083 )

Relationships
is a type of: autosomal recessive disease Fanconi anemia