{
    "disease_id": "DOID:0111089",
    "recommended_name": {
        "id": "DOID:0111089",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111089",
            "name": "FAD1",
            "description": ""
        },
        {
            "id": "DOID:0111089",
            "resource": "Disease Ontology",
            "url": "http://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": "Fad1",
            "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": "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations",
            "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": "http://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": "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group D1 protein homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 2 susceptibility protein homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group D1 protein homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brca2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Brca2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Fancd1; RAB163",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Fancd1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111089",
                    "database": "Alliance of Genome Resources",
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-3(IX) chain precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IX proteoglycan; collagen IX, alpha-3 polypeptide; collagen alpha-3(IX) chain; collagen, type IX, alpha 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL9A3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "COL9A3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DJ885L7.4.1; EDM3; IDD; MED; STL6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111089",
                    "database": "Alliance of Genome Resources",
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BRCA1/BRCA2-containing complex, subunit 2; breast cancer type 2 susceptibility protein; DNA repair-associated BRCA2; breast cancer 2 tumor suppressor; breast and ovarian cancer susceptibility gene, early onset; Fanconi anemia group D1 protein; breast and ovarian cancer susceptibility protein 2; breast cancer 2, early onset; mutant BRCA2; mutant DNA repair-associated protein 2; BRCA2 DNA repair associated protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group D1 protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 2 susceptibility protein isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRCA2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BRCA2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD; FANCD1; GLM3; PNCA2; XRCC11",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "FACD",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "FANCD1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111089",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111089"
                },
                {
                    "id": "605724",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605724"
                }
            ]
        },
        {
            "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": "BRCA2 DNA repair-associated",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Breast cancer type 2 susceptibility protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "breast and ovarian cancer susceptibility protein 2; breast cancer 2, early onset",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 2 susceptibility protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brca2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "brca2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "fancd1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "fancd1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111089",
                    "database": "Alliance of Genome Resources",
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group D1 protein homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brca2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Fancd1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111089",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111089"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111089"
}