{
    "disease_id": "DOID:0111083",
    "recommended_name": {
        "id": "DOID:0111083",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111083",
            "name": "FA4",
            "description": ""
        },
        {
            "id": "DOID:0111083",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111083",
            "name": "FAD2",
            "description": ""
        },
        {
            "id": "DOID:0111083",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111083",
            "name": "FANCD2",
            "description": ""
        },
        {
            "id": "DOID:0111083",
            "resource": "Disease Ontology",
            "url": "http://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 pancytopenia type 4",
            "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": "Fanconi Anemia, complementation group D",
            "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 pancytopenia, type 4",
            "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"
        }
    ]
}