{
    "disease_id": "DOID:0111089",
    "recommended_name": {
        "id": "DOID:0111089",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111089",
        "name": "Fanconi anemia complementation group D1",
        "description": "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111089",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111089",
            "name": "FAD1",
            "description": ""
        },
        {
            "id": "DOID:0111089",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111089",
            "name": "FANCD1",
            "description": ""
        },
        {
            "id": "MONDO:0011584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011584",
            "name": "Fanconi anemia complementation group D1",
            "description": "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."
        },
        {
            "id": "MONDO:0011584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011584",
            "name": "FAD1",
            "description": ""
        },
        {
            "id": "MONDO:0011584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011584",
            "name": "FANCD1",
            "description": ""
        },
        {
            "id": "MONDO:0011584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011584",
            "name": "Fanconi anemia complementation group D1",
            "description": ""
        },
        {
            "id": "MONDO:0011584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011584",
            "name": "Fanconi anemia, complementation group D1",
            "description": ""
        },
        {
            "id": "MIM:605724",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605724",
            "name": "Fanconi anemia complementation group D1",
            "description": "Fanconi anemia complementation group D1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111089"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111089",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111089",
            "categories": []
        },
        {
            "id": "MONDO:0011584",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011584",
            "categories": []
        },
        {
            "id": "MIM:605724",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605724",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B481-1",
            "uniprot_ac": "A0A8M2B481",
            "uniprot_id": "A0A8M2B481_DANRE",
            "refseq_ac": "NP_001103864",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Breast cancer type 2 susceptibility protein",
                    "type": "synonym"
                },
                {
                    "name": "breast and ovarian cancer susceptibility protein 2",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer 2, early onset",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 2 susceptibility protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brca2",
                    "type": "recommended"
                },
                {
                    "name": "brca2",
                    "type": "synonym"
                },
                {
                    "name": "fancd1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B481-1",
            "evidence": [
                {
                    "id": "0111089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97929-1",
            "uniprot_ac": "P97929",
            "uniprot_id": "BRCA2_MOUSE",
            "refseq_ac": "NP_001074470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Breast cancer type 2 susceptibility protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group D1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 2 susceptibility protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group D1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brca2",
                    "type": "recommended"
                },
                {
                    "name": "Brca2",
                    "type": "synonym"
                },
                {
                    "name": "Fancd1",
                    "type": "synonym"
                },
                {
                    "name": "RAB163",
                    "type": "synonym"
                }
            ],
            "record_id": "P97929-1",
            "evidence": [
                {
                    "id": "0111089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51587-1",
            "uniprot_ac": "P51587",
            "uniprot_id": "BRCA2_HUMAN",
            "refseq_ac": "NP_000050",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Breast cancer type 2 susceptibility protein",
                    "type": "recommended"
                },
                {
                    "name": "BRCA1/BRCA2-containing complex, subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "BRCA2 DNA repair associated protein",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair-associated BRCA2",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group D1 protein",
                    "type": "synonym"
                },
                {
                    "name": "breast and ovarian cancer susceptibility gene, early onset",
                    "type": "synonym"
                },
                {
                    "name": "breast and ovarian cancer susceptibility protein 2",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer 2 tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer 2, early onset",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 2 susceptibility protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 2 susceptibility protein",
                    "type": "synonym"
                },
                {
                    "name": "mutant BRCA2",
                    "type": "synonym"
                },
                {
                    "name": "mutant DNA repair-associated protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRCA2",
                    "type": "recommended"
                },
                {
                    "name": "BRCA2",
                    "type": "synonym"
                },
                {
                    "name": "BRCC2",
                    "type": "synonym"
                },
                {
                    "name": "BROVCA2",
                    "type": "synonym"
                },
                {
                    "name": "FACD",
                    "type": "synonym"
                },
                {
                    "name": "FAD1",
                    "type": "synonym"
                },
                {
                    "name": "FAD",
                    "type": "synonym"
                },
                {
                    "name": "FANCD1",
                    "type": "synonym"
                },
                {
                    "name": "FANCD",
                    "type": "synonym"
                },
                {
                    "name": "GLM3",
                    "type": "synonym"
                },
                {
                    "name": "PNCA2",
                    "type": "synonym"
                },
                {
                    "name": "XRCC11",
                    "type": "synonym"
                }
            ],
            "record_id": "P51587-1",
            "evidence": [
                {
                    "id": "605724",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605724"
                },
                {
                    "id": "0111089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35923-1",
            "uniprot_ac": "O35923",
            "uniprot_id": "BRCA2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Breast cancer type 2 susceptibility protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group D1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brca2",
                    "type": "recommended"
                },
                {
                    "name": "Fancd1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35923-1",
            "evidence": [
                {
                    "id": "0111089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14050-1",
            "uniprot_ac": "Q14050",
            "uniprot_id": "CO9A3_HUMAN",
            "refseq_ac": "NP_001844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(IX) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen IX, alpha-3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IX) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IX) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IX proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IX, alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL9A3",
                    "type": "recommended"
                },
                {
                    "name": "COL9A3",
                    "type": "synonym"
                },
                {
                    "name": "DJ885L7.4.1",
                    "type": "synonym"
                },
                {
                    "name": "EDM3",
                    "type": "synonym"
                },
                {
                    "name": "IDD",
                    "type": "synonym"
                },
                {
                    "name": "MED",
                    "type": "synonym"
                },
                {
                    "name": "STL6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14050-1",
            "evidence": [
                {
                    "id": "0111089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111089"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111089"
}