{
    "disease_id": "DOID:0111084",
    "recommended_name": {
        "id": "DOID:0111084",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111084",
        "name": "Fanconi anemia complementation group E",
        "description": "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21."
    },
    "synonyms": [
        {
            "id": "DOID:0111084",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111084",
            "name": "FACE",
            "description": ""
        },
        {
            "id": "DOID:0111084",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111084",
            "name": "FANCE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia complementation group E",
            "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2."
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "FACE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "FANCE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "FANCE Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "FANCE Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi Anemia, complementation group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anaemia caused by mutation in FANCE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anaemia complementation group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia caused by mutation in FANCE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia complementation group E",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia complementation group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "face",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia, complementation group E",
            "description": ""
        },
        {
            "id": "MIM:600901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600901",
            "name": "Fanconi anemia complementation group E",
            "description": "Fanconi anemia complementation group E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111084"
    ],
    "unlinked_id_list": []
}