{
    "disease_id": "DOID:0060201",
    "recommended_name": {
        "id": "DOID:0060201",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060201",
        "name": "amyotrophic lateral sclerosis type 10",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1."
    },
    "synonyms": [
        {
            "id": "DOID:0060201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060201",
            "name": "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions",
            "description": ""
        },
        {
            "id": "DOID:0060201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060201",
            "name": "ALS10",
            "description": ""
        },
        {
            "id": "DOID:0060201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060201",
            "name": "amyotrophic lateral sclerosis 10",
            "description": ""
        },
        {
            "id": "DOID:0060201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060201",
            "name": "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia",
            "description": ""
        },
        {
            "id": "MONDO:0012790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012790",
            "name": "amyotrophic lateral sclerosis type 10",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene."
        },
        {
            "id": "MONDO:0012790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012790",
            "name": "ALS10",
            "description": ""
        },
        {
            "id": "MONDO:0012790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012790",
            "name": "TARDBP amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0012790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012790",
            "name": "amyotrophic lateral sclerosis 10, with or without FTD",
            "description": ""
        },
        {
            "id": "MONDO:0012790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012790",
            "name": "amyotrophic lateral sclerosis caused by mutation in TARDBP",
            "description": ""
        },
        {
            "id": "MONDO:0012790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012790",
            "name": "amyotrophic lateral sclerosis type 10",
            "description": ""
        },
        {
            "id": "MONDO:0012790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012790",
            "name": "frontotemporal lobar degeneration, TARDBP-related",
            "description": ""
        },
        {
            "id": "MONDO:0012790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012790",
            "name": "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia",
            "description": ""
        },
        {
            "id": "MIM:612069",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612069",
            "name": "Amyotrophic lateral sclerosis 10",
            "description": "Amyotrophic lateral sclerosis 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060201"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060201",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060201",
            "categories": []
        },
        {
            "id": "MONDO:0012790",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012790",
            "categories": []
        },
        {
            "id": "MIM:612069",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612069",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IJ45-1",
            "uniprot_ac": "A0AC58IJ45",
            "uniprot_id": "A0AC58IJ45_DANRE",
            "refseq_ac": "XP_073794270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TAR DNA-binding protein 43",
                    "type": "recommended"
                },
                {
                    "name": "TAR DNA binding protein, like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tardbpa",
                    "type": "recommended"
                },
                {
                    "name": "tardbpa",
                    "type": "synonym"
                },
                {
                    "name": "tardbpl",
                    "type": "synonym"
                },
                {
                    "name": "tardbp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb52e05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe47c11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj94b04",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IJ45-1",
            "evidence": [
                {
                    "id": "0060201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060201"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q921F2-1",
            "uniprot_ac": "Q921F2",
            "uniprot_id": "TADBP_MOUSE",
            "refseq_ac": "NP_001003899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TAR DNA-binding protein 43",
                    "type": "recommended"
                },
                {
                    "name": "TAR DNA-binding protein 43 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "TAR DNA-binding protein 43",
                    "type": "synonym"
                },
                {
                    "name": "TDP-43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tardbp",
                    "type": "recommended"
                },
                {
                    "name": "1190002A23Rik",
                    "type": "synonym"
                },
                {
                    "name": "TDP-43",
                    "type": "synonym"
                },
                {
                    "name": "Tardbp",
                    "type": "synonym"
                },
                {
                    "name": "Tdp43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921F2-1",
            "evidence": [
                {
                    "id": "0060201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060201"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13148-1",
            "uniprot_ac": "Q13148",
            "uniprot_id": "TADBP_HUMAN",
            "refseq_ac": "NP_031401",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TAR DNA-binding protein 43",
                    "type": "recommended"
                },
                {
                    "name": "TAR DNA-binding protein 43",
                    "type": "synonym"
                },
                {
                    "name": "TAR DNA-binding protein-43",
                    "type": "synonym"
                },
                {
                    "name": "TDP-43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TARDBP",
                    "type": "recommended"
                },
                {
                    "name": "ALS10",
                    "type": "synonym"
                },
                {
                    "name": "TARDBP",
                    "type": "synonym"
                },
                {
                    "name": "TDP-43",
                    "type": "synonym"
                },
                {
                    "name": "TDP43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13148-1",
            "evidence": [
                {
                    "id": "612069",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612069"
                },
                {
                    "id": "0060201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060201"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GLU8-1",
            "uniprot_ac": "A0A8I6GLU8",
            "uniprot_id": "A0A8I6GLU8_RAT",
            "refseq_ac": "NP_001386034",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TAR DNA-binding protein 43",
                    "type": "recommended"
                },
                {
                    "name": "TAR DNA-binding protein 43 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "TAR DNA-binding protein 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tardbp",
                    "type": "recommended"
                },
                {
                    "name": "Tardbp",
                    "type": "synonym"
                },
                {
                    "name": "Tdp-43",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GLU8-1",
            "evidence": [
                {
                    "id": "0060201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060201"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUN2-1",
            "uniprot_ac": "Q9VUN2",
            "uniprot_id": "Q9VUN2_DROME",
            "refseq_ac": "NP_001261874",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "TAR DNA-binding protein 43",
                    "type": "recommended"
                },
                {
                    "name": "CG7804-PB",
                    "type": "synonym"
                },
                {
                    "name": "cocoon, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cocoon-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cocoon",
                    "type": "recommended"
                },
                {
                    "name": "CG7804",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7804",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7804",
                    "type": "synonym"
                },
                {
                    "name": "cg7804",
                    "type": "synonym"
                },
                {
                    "name": "cocoon",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUN2-1",
            "evidence": [
                {
                    "id": "0060201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060201"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060201"
}