Term Name: Fanconi anemia complementation group D1
Synonyms: FAD1, FANCD1
Definition: A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.
Ontology: Human Disease [DOID:0111089]   ( DOID:0111089 )

Relationships
is a type of: autosomal recessive disease Fanconi anemia