Term Name: | Fanconi anemia complementation group D2 |
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Synonyms: | FA4, FAD2, FANCD2, Fanconi pancytopenia type 4 |
Definition: | A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. |
Ontology: | Human Disease [DOID:0111083] ( DOID:0111083 ) |