{
    "disease_id": "DOID:0080324",
    "recommended_name": {
        "id": "DOID:0080324",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080324",
        "name": "tuberous sclerosis 1",
        "description": "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "tuberous sclerosis 1",
            "description": "An autosomal dominant syndrome caused by pathogenic variants in the TSC1 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions."
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "TSC1 tuberous sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "TSC1-related tuberous sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "tuberous sclerosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "tuberous sclerosis caused by mutation in TSC1",
            "description": ""
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "tuberous sclerosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "tuberous sclerosis-1",
            "description": ""
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "TSC1",
            "description": ""
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "tuberose sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "tuberous sclerosis Complex",
            "description": ""
        },
        {
            "id": "MONDO:0008612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "name": "tuberous sclerosis, type 1",
            "description": ""
        },
        {
            "id": "MIM:191100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/191100",
            "name": "Tuberous sclerosis 1",
            "description": "Tuberous sclerosis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080324"
    ],
    "unlinked_id_list": []
}