disease has basis in dysfunction of BRCA2 Fanconi anemia complementation group D1 DOID:0111089 FAD1 FANCD1 Fad1 Fanconi anemia, complementation group D1 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. MESH:C563980 MONDO:0011584 NCIT:C125705 OMIM:605724 Orphanet:319462 SCTID:766707003 UMLS:C1838457 inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations inherited renal cancer-predisposing syndrome Fanconi anemia