{
    "disease_id": "DOID:0111083",
    "recommended_name": {
        "id": "DOID:0111083",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111083",
        "name": "Fanconi anemia complementation group D2",
        "description": "A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0111083",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111083",
            "name": "FA4",
            "description": ""
        },
        {
            "id": "DOID:0111083",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111083",
            "name": "FAD2",
            "description": ""
        },
        {
            "id": "DOID:0111083",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111083",
            "name": "FANCD2",
            "description": ""
        },
        {
            "id": "DOID:0111083",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111083",
            "name": "Fanconi pancytopenia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009214",
            "name": "Fanconi anemia complementation group D2",
            "description": "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing."
        },
        {
            "id": "MONDO:0009214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009214",
            "name": "FA4",
            "description": ""
        },
        {
            "id": "MONDO:0009214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009214",
            "name": "FAD2",
            "description": ""
        },
        {
            "id": "MONDO:0009214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009214",
            "name": "FANCD2",
            "description": ""
        },
        {
            "id": "MONDO:0009214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009214",
            "name": "Fanconi anemia complementation group D2",
            "description": ""
        },
        {
            "id": "MONDO:0009214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009214",
            "name": "Fanconi anemia, complementation group D2",
            "description": ""
        },
        {
            "id": "MIM:227646",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/227646",
            "name": "Fanconi anemia complementation group D2",
            "description": "Fanconi anemia complementation group D2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111083"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111083",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111083",
            "categories": []
        },
        {
            "id": "MONDO:0009214",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009214",
            "categories": []
        },
        {
            "id": "MIM:227646",
            "database": "MIM",
            "url": "https://www.omim.org/entry/227646",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80V62-1",
            "uniprot_ac": "Q80V62",
            "uniprot_id": "FACD2_MOUSE",
            "refseq_ac": "NP_001028416",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group D2 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group D2 protein homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACD2",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group D2 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancd2",
                    "type": "recommended"
                },
                {
                    "name": "2410150O07Rik",
                    "type": "synonym"
                },
                {
                    "name": "FA-D2",
                    "type": "synonym"
                },
                {
                    "name": "FA4",
                    "type": "synonym"
                },
                {
                    "name": "FACD",
                    "type": "synonym"
                },
                {
                    "name": "FAD",
                    "type": "synonym"
                },
                {
                    "name": "FANCD",
                    "type": "synonym"
                },
                {
                    "name": "Fancd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80V62-1",
            "evidence": [
                {
                    "id": "0111083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BXW9-2",
            "uniprot_ac": "Q9BXW9",
            "uniprot_id": "FACD2_HUMAN",
            "refseq_ac": "NP_001018125",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group D2 protein",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia complementation group D2",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group D2 protein isoform b",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACD2",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group D2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FANCD2",
                    "type": "recommended"
                },
                {
                    "name": "FA-D2",
                    "type": "synonym"
                },
                {
                    "name": "FA4",
                    "type": "synonym"
                },
                {
                    "name": "FACD",
                    "type": "synonym"
                },
                {
                    "name": "FAD2",
                    "type": "synonym"
                },
                {
                    "name": "FAD",
                    "type": "synonym"
                },
                {
                    "name": "FANCD2",
                    "type": "synonym"
                },
                {
                    "name": "FANCD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BXW9-2",
            "evidence": [
                {
                    "id": "227646",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/227646"
                },
                {
                    "id": "0111083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IV68-1",
            "uniprot_ac": "Q6IV68",
            "uniprot_id": "FACD2_RAT",
            "refseq_ac": "NP_001001719",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group D2 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia D2 protein",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group D2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia, complementation group D2",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancd2",
                    "type": "recommended"
                },
                {
                    "name": "Fancd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IV68-1",
            "evidence": [
                {
                    "id": "0111083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MYL1-1",
            "uniprot_ac": "Q8MYL1",
            "uniprot_id": "FACD2_DROME",
            "refseq_ac": "NP_996246",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group D2 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG17269-PA",
                    "type": "synonym"
                },
                {
                    "name": "Fancd2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Fancd2",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancd2",
                    "type": "recommended"
                },
                {
                    "name": "CG17269",
                    "type": "synonym"
                },
                {
                    "name": "CG31192",
                    "type": "synonym"
                },
                {
                    "name": "CG31194",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17269",
                    "type": "synonym"
                },
                {
                    "name": "FAD",
                    "type": "synonym"
                },
                {
                    "name": "FANCD2",
                    "type": "synonym"
                },
                {
                    "name": "FancD2",
                    "type": "synonym"
                },
                {
                    "name": "Fancd2",
                    "type": "synonym"
                },
                {
                    "name": "dmFANCD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MYL1-1",
            "evidence": [
                {
                    "id": "0111083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111083"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111083"
}