Fanconi anemia complementation group D2
Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.
MONDO:0019391
Fanconi anemia
is_a
FA4
exact
FAD2
exact
FANCD2
exact
Fanconi anemia complementation group D2
exact
Fanconi anemia, complementation group D2
related