{
    "disease_id": "DOID:0080325",
    "recommended_name": {
        "id": "DOID:0080325",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080325",
        "name": "tuberous sclerosis 2",
        "description": "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
            "name": "tuberous sclerosis 2",
            "description": "An autosomal dominant syndrome caused by pathogenic variants in the TSC2 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:0013199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
            "name": "TSC2-related tuberous sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0013199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
            "name": "tuberous sclerosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0013199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
            "name": "tuberous sclerosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
            "name": "tuberous sclerosis-2",
            "description": ""
        },
        {
            "id": "MONDO:0013199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
            "name": "TSC2",
            "description": ""
        },
        {
            "id": "MONDO:0013199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
            "name": "tuberous sclerosis, type 2",
            "description": ""
        },
        {
            "id": "MIM:613254",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613254",
            "name": "Tuberous sclerosis 2",
            "description": "Tuberous sclerosis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080325"
    ],
    "unlinked_id_list": []
}