Term Name: | Fanconi anemia complementation group D1 |
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Synonyms: | FAD1, FANCD1 |
Definition: | A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. |
Ontology: | Human Disease [DOID:0111089] ( DOID:0111089 ) |