{
    "disease_id": "DOID:13636",
    "recommended_name": {
        "id": "DOID:13636",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:13636",
        "name": "Fanconi anemia",
        "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair."
    },
    "synonyms": [
        {
            "id": "DOID:13636",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13636",
            "name": "Fanconi anaemia",
            "description": ""
        },
        {
            "id": "DOID:13636",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13636",
            "name": "Fanconi pancytopenia",
            "description": ""
        },
        {
            "id": "DOID:13636",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13636",
            "name": "Fanconi panmyelopathy",
            "description": ""
        },
        {
            "id": "DOID:13636",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13636",
            "name": "Fanconi's anaemia",
            "description": ""
        },
        {
            "id": "DOID:13636",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:13636",
            "name": "Fanconi's anemia",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia complementation group A",
            "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway."
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi Anemia, complementation group type a",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Estren-Dameshek variant of Fanconi Anemia",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia complementation group type A",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "FANCA",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi Anemia, Estren-Dameshek variant",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia, complementation group A; FANCA",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "FANCA Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi Anemia",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia, complementation group A",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia caused by mutation in FANCA",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Estren-Dameshek variant of Fanconi pancytopenia",
            "description": ""
        },
        {
            "id": "MIM:227650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/227650",
            "name": "Fanconi anemia, complementation group A",
            "description": "Fanconi anemia, complementation group A"
        }
    ]
}