has material basis in germline mutation in BRCA2 Fanconi anemia complementation group D1 https://www.malacards.org/card/fanconi_anemia_complementation_group_d1 MONDO:0011584 NCIT:C125705 DOID:0111089 GARD:0017449 OMIM:605724 Fanconi anemia, complementation group D1 inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations FAD1 MEDGEN:325420 Orphanet:319462 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. FANCD1 SCTID:766707003 UMLS:C1838457 MESH:C563980 Fanconi anemia complementation group D1 Fad1 Fanconi anemia