{
    "disease_id": "DOID:0060173",
    "recommended_name": {
        "id": "DOID:0060173",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060173",
        "name": "Timothy syndrome",
        "description": "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "Timothy syndrome",
            "description": "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders."
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "TIMOTHY syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "TS",
            "description": ""
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "Timothy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "long QT syndrome-syndactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "LQT8",
            "description": ""
        },
        {
            "id": "MIM:601005",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601005",
            "name": "Timothy syndrome",
            "description": "Timothy syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060173"
    ],
    "unlinked_id_list": []
}