{
    "disease_id": "DOID:0080898",
    "recommended_name": {
        "id": "DOID:0080898",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080898",
        "name": "cerebellofaciodental syndrome",
        "description": "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0080898",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080898",
            "name": "cerebellar-facial-dental syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "cerebellar-facial-dental syndrome",
            "description": "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32."
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "Cerebellofaciodental syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "cerebellar-facial-dental syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "CEREBELLOFACIODENTAL syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014529",
            "name": "CFDS",
            "description": ""
        },
        {
            "id": "MIM:616202",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616202",
            "name": "Cerebellofaciodental syndrome",
            "description": "Cerebellofaciodental syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080898"
    ],
    "unlinked_id_list": []
}