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Fanconi anemia complementation group D2 | RareConnect | RareConnect.io

/Fanconi anemia

/Fanconi anemia complementation group D2

Fanconi anemia complementation group D2

Rare Disease

MONDO:0009214

Also Known As

FA4FAD2FANCD2Fanconi anemia complementation group D2Fanconi pancytopenia type 4Fad2Fanconi Anemia, complementation group DFanconi anemia, complementation group D2Fanconi pancytopenia, type 4

Definition

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.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:227646 ↗

GARD

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