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. The disease is Monarch Disease Ontology term MONDO_0009214 (Fanconi anemia complementation group D2). Also known as: FA4, FAD2, FANCD2, Fanconi pancytopenia type 4.