{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0080325",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080325",
            "categories": []
        },
        {
            "id": "MONDO:0013199",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
            "categories": []
        },
        {
            "id": "MIM:613254",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613254",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PW15-1",
            "uniprot_ac": "A0A8M9PW15",
            "uniprot_id": "A0A8M9PW15_DANRE",
            "refseq_ac": "XP_021331278",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tuberin",
                    "type": "recommended"
                },
                {
                    "name": "tuberin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tsc2",
                    "type": "recommended"
                },
                {
                    "name": "fc16b02",
                    "type": "synonym"
                },
                {
                    "name": "tsc2",
                    "type": "synonym"
                },
                {
                    "name": "tuberin",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc16b02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PW15-1",
            "evidence": [
                {
                    "id": "0080325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TLE6-1",
            "uniprot_ac": "Q5TLE6",
            "uniprot_id": "Q5TLE6_DANRE",
            "refseq_ac": "NP_001018629",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ifngamma1",
                    "type": "synonym"
                },
                {
                    "name": "Interferon gamma related precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma related precursor",
                    "type": "synonym"
                },
                {
                    "name": "interferon, gamma 1-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ifng1r",
                    "type": "recommended"
                },
                {
                    "name": "ifng1-1",
                    "type": "synonym"
                },
                {
                    "name": "ifng1r",
                    "type": "synonym"
                },
                {
                    "name": "ifng1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-266a5.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TLE6-1",
            "evidence": [
                {
                    "id": "0080325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01580-1",
            "uniprot_ac": "P01580",
            "uniprot_id": "IFNG_MOUSE",
            "refseq_ac": "NP_032363",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon gamma",
                    "type": "recommended"
                },
                {
                    "name": "IFN-gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma interferon",
                    "type": "synonym"
                },
                {
                    "name": "interferon 2f",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifng",
                    "type": "recommended"
                },
                {
                    "name": "IFN-g",
                    "type": "synonym"
                },
                {
                    "name": "If2f",
                    "type": "synonym"
                },
                {
                    "name": "Ifg",
                    "type": "synonym"
                },
                {
                    "name": "Ifng",
                    "type": "synonym"
                }
            ],
            "record_id": "P01580-1",
            "evidence": [
                {
                    "id": "0080325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61037-1",
            "uniprot_ac": "Q61037",
            "uniprot_id": "TSC2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tuberin",
                    "type": "recommended"
                },
                {
                    "name": "Tuberous sclerosis 2 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsc2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q61037-1",
            "evidence": [
                {
                    "id": "0080325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49815-1",
            "uniprot_ac": "P49815",
            "uniprot_id": "TSC2_HUMAN",
            "refseq_ac": "NP_001305761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tuberin",
                    "type": "recommended"
                },
                {
                    "name": "Tuberous sclerosis 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 160",
                    "type": "synonym"
                },
                {
                    "name": "tuberin isoform 9",
                    "type": "synonym"
                },
                {
                    "name": "tuberin",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSC2",
                    "type": "recommended"
                },
                {
                    "name": "LAM",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R160",
                    "type": "synonym"
                },
                {
                    "name": "TSC2",
                    "type": "synonym"
                },
                {
                    "name": "TSC4",
                    "type": "synonym"
                }
            ],
            "record_id": "P49815-1",
            "evidence": [
                {
                    "id": "613254",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613254"
                },
                {
                    "id": "0080325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01581-1",
            "uniprot_ac": "P01581",
            "uniprot_id": "IFNG_RAT",
            "refseq_ac": "NP_620235",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon gamma",
                    "type": "recommended"
                },
                {
                    "name": "IFN-gamma",
                    "type": "synonym"
                },
                {
                    "name": "interferon 2f",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifng",
                    "type": "recommended"
                },
                {
                    "name": "IFNG2",
                    "type": "synonym"
                },
                {
                    "name": "If2f",
                    "type": "synonym"
                },
                {
                    "name": "Ifng",
                    "type": "synonym"
                }
            ],
            "record_id": "P01581-1",
            "evidence": [
                {
                    "id": "0080325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49816-1",
            "uniprot_ac": "P49816",
            "uniprot_id": "TSC2_RAT",
            "refseq_ac": "XP_006245971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tuberin",
                    "type": "recommended"
                },
                {
                    "name": "Tuberous sclerosis 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "tuberin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsc2",
                    "type": "recommended"
                },
                {
                    "name": "Rc",
                    "type": "synonym"
                },
                {
                    "name": "Tsc2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49816-1",
            "evidence": [
                {
                    "id": "0080325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW83-1",
            "uniprot_ac": "Q9VW83",
            "uniprot_id": "Q9VW83_DROME",
            "refseq_ac": "NP_524177",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6975-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gigas, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "gig-PA",
                    "type": "synonym"
                },
                {
                    "name": "gigas, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "gigas",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)109",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis complex 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gig",
                    "type": "recommended"
                },
                {
                    "name": "6975",
                    "type": "synonym"
                },
                {
                    "name": "C1",
                    "type": "synonym"
                },
                {
                    "name": "CG6975",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6975",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6975",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0074588",
                    "type": "synonym"
                },
                {
                    "name": "Gigas",
                    "type": "synonym"
                },
                {
                    "name": "ME 109",
                    "type": "synonym"
                },
                {
                    "name": "TSC2",
                    "type": "synonym"
                },
                {
                    "name": "TsC2",
                    "type": "synonym"
                },
                {
                    "name": "Tsc2/gig",
                    "type": "synonym"
                },
                {
                    "name": "Tsc2",
                    "type": "synonym"
                },
                {
                    "name": "dTSC2",
                    "type": "synonym"
                },
                {
                    "name": "dTsc2",
                    "type": "synonym"
                },
                {
                    "name": "gig/Tsc2",
                    "type": "synonym"
                },
                {
                    "name": "gig",
                    "type": "synonym"
                },
                {
                    "name": "l(3)109",
                    "type": "synonym"
                },
                {
                    "name": "tsc2(gig)",
                    "type": "synonym"
                },
                {
                    "name": "tsc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW83-1",
            "evidence": [
                {
                    "id": "0080325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01579-1",
            "uniprot_ac": "P01579",
            "uniprot_id": "IFNG_HUMAN",
            "refseq_ac": "NP_000610",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon gamma",
                    "type": "recommended"
                },
                {
                    "name": "IFN-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Immune interferon",
                    "type": "synonym"
                },
                {
                    "name": "immune interferon",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFNG",
                    "type": "recommended"
                },
                {
                    "name": "IFG",
                    "type": "synonym"
                },
                {
                    "name": "IFI",
                    "type": "synonym"
                },
                {
                    "name": "IFNG",
                    "type": "synonym"
                },
                {
                    "name": "IMD69",
                    "type": "synonym"
                }
            ],
            "record_id": "P01579-1",
            "evidence": [
                {
                    "id": "0080325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080325"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080325"
}