Term Name: Fanconi anemia complementation group J
Synonyms: FANCJ
Definition: A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22.
Ontology: Human Disease [DOID:0111097]   ( DOID:0111097 )

Relationships
is a type of: Fanconi anemia monogenic disease