{
    "disease_id": "DOID:0080324",
    "recommended_name": {
        "id": "DOID:0080324",
        "resource": "Disease Ontology",
        "url": "https://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": "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": [],
    "crossref": [
        {
            "id": "DOID:0080324",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080324",
            "categories": []
        },
        {
            "id": "MONDO:0008612",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008612",
            "categories": []
        },
        {
            "id": "MIM:191100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/191100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FEJ0-1",
            "uniprot_ac": "E7FEJ0",
            "uniprot_id": "E7FEJ0_DANRE",
            "refseq_ac": "NP_001269321",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TSC complex subunit 1b",
                    "type": "synonym"
                },
                {
                    "name": "hamartin",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1b",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tsc1b",
                    "type": "recommended"
                },
                {
                    "name": "fc38b04",
                    "type": "synonym"
                },
                {
                    "name": "tsc1b",
                    "type": "synonym"
                },
                {
                    "name": "tsc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc38b04",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FEJ0-1",
            "evidence": [
                {
                    "id": "0080324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BJK9-1",
            "uniprot_ac": "A0A8M2BJK9",
            "uniprot_id": "A0A8M2BJK9_DANRE",
            "refseq_ac": "XP_005171852",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TSC complex subunit 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tsc1a",
                    "type": "recommended"
                },
                {
                    "name": "fa99f04",
                    "type": "synonym"
                },
                {
                    "name": "tsc1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa99f04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63657",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BJK9-1",
            "evidence": [
                {
                    "id": "0080324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EP53-1",
            "uniprot_ac": "Q9EP53",
            "uniprot_id": "TSC1_MOUSE",
            "refseq_ac": "NP_001276504",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hamartin",
                    "type": "recommended"
                },
                {
                    "name": "Tuberous sclerosis 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "hamartin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hamartin",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsc1",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0243",
                    "type": "synonym"
                },
                {
                    "name": "Tsc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EP53-1",
            "evidence": [
                {
                    "id": "0080324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92574-1",
            "uniprot_ac": "Q92574",
            "uniprot_id": "TSC1_HUMAN",
            "refseq_ac": "NP_000359",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hamartin",
                    "type": "recommended"
                },
                {
                    "name": "Tuberous sclerosis 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "hamartin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hamartin",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSC1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0243",
                    "type": "synonym"
                },
                {
                    "name": "LAM",
                    "type": "synonym"
                },
                {
                    "name": "TSC1",
                    "type": "synonym"
                },
                {
                    "name": "TSC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92574-1",
            "evidence": [
                {
                    "id": "191100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/191100"
                },
                {
                    "id": "0080324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z136-1",
            "uniprot_ac": "Q9Z136",
            "uniprot_id": "TSC1_RAT",
            "refseq_ac": "NP_068626",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hamartin",
                    "type": "recommended"
                },
                {
                    "name": "Tuberous sclerosis 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "hamartin",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsc1",
                    "type": "recommended"
                },
                {
                    "name": "Tsc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z136-1",
            "evidence": [
                {
                    "id": "0080324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCC9-1",
            "uniprot_ac": "Q9VCC9",
            "uniprot_id": "Q9VCC9_DROME",
            "refseq_ac": "NP_477415",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6147-PA",
                    "type": "synonym"
                },
                {
                    "name": "TTuberous sclerosis complex 1",
                    "type": "synonym"
                },
                {
                    "name": "Tsc1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tsc1",
                    "type": "synonym"
                },
                {
                    "name": "hamartin",
                    "type": "synonym"
                },
                {
                    "name": "jolly green giant",
                    "type": "synonym"
                },
                {
                    "name": "rocky",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis complex 1",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis complex protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsc1",
                    "type": "recommended"
                },
                {
                    "name": "CG6147",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6147",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6147",
                    "type": "synonym"
                },
                {
                    "name": "TSC1",
                    "type": "synonym"
                },
                {
                    "name": "TSC",
                    "type": "synonym"
                },
                {
                    "name": "TsC1",
                    "type": "synonym"
                },
                {
                    "name": "Tsc1",
                    "type": "synonym"
                },
                {
                    "name": "Tsc",
                    "type": "synonym"
                },
                {
                    "name": "dTSC-1",
                    "type": "synonym"
                },
                {
                    "name": "dTSC1",
                    "type": "synonym"
                },
                {
                    "name": "dTSC",
                    "type": "synonym"
                },
                {
                    "name": "dTsc1",
                    "type": "synonym"
                },
                {
                    "name": "dtsc1",
                    "type": "synonym"
                },
                {
                    "name": "rocky",
                    "type": "synonym"
                },
                {
                    "name": "tSC1",
                    "type": "synonym"
                },
                {
                    "name": "tsc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCC9-1",
            "evidence": [
                {
                    "id": "0080324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080324"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080324"
}