{
    "disease_id": "DOID:0060207",
    "recommended_name": {
        "id": "DOID:0060207",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060207",
        "name": "amyotrophic lateral sclerosis type 16",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9."
    },
    "synonyms": [
        {
            "id": "DOID:0060207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060207",
            "name": "ALS16",
            "description": ""
        },
        {
            "id": "DOID:0060207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060207",
            "name": "amyotrophic lateral sclerosis 16",
            "description": ""
        },
        {
            "id": "DOID:0060207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060207",
            "name": "amyotrophic lateral sclerosis 16, juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0013715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013715",
            "name": "amyotrophic lateral sclerosis type 16",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene."
        },
        {
            "id": "MONDO:0013715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013715",
            "name": "ALS16",
            "description": ""
        },
        {
            "id": "MONDO:0013715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013715",
            "name": "SIGMAR1 amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0013715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013715",
            "name": "amyotrophic lateral sclerosis caused by mutation in SIGMAR1",
            "description": ""
        },
        {
            "id": "MONDO:0013715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013715",
            "name": "amyotrophic lateral sclerosis 16, juvenile",
            "description": ""
        },
        {
            "id": "MIM:614373",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614373",
            "name": "Amyotrophic lateral sclerosis 16, juvenile",
            "description": "Amyotrophic lateral sclerosis 16, juvenile"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060207"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060207",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060207",
            "categories": []
        },
        {
            "id": "MONDO:0013715",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013715",
            "categories": []
        },
        {
            "id": "MIM:614373",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614373",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZWG9-1",
            "uniprot_ac": "Q7ZWG9",
            "uniprot_id": "SGMR1_DANRE",
            "refseq_ac": "NP_957271",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sigma non-opioid intracellular receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1R",
                    "type": "synonym"
                },
                {
                    "name": "opioid receptor, sigma 1",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma non-opioid intracellular receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma1R",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "sigmar1",
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                },
                {
                    "name": "oprs1",
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                },
                {
                    "name": "sigmar1",
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                },
                {
                    "name": "zgc:56378",
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                }
            ],
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                    "id": "0060207",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55242-1",
            "uniprot_ac": "O55242",
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            "refseq_ac": "NP_001273467",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Sigma non-opioid intracellular receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-receptor",
                    "type": "synonym"
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                {
                    "name": "Sigma1R",
                    "type": "synonym"
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                    "name": "opioid receptor, sigma 1",
                    "type": "synonym"
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                {
                    "name": "sigma 1 receptor variant SR-1D",
                    "type": "synonym"
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                {
                    "name": "sigma 1-type opioid receptor",
                    "type": "synonym"
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                {
                    "name": "sigma non-opioid intracellular receptor 1 isoform 2",
                    "type": "synonym"
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                    "name": "sigma1-receptor",
                    "type": "synonym"
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            ],
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                {
                    "name": "Sigmar1",
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                },
                {
                    "name": "Oprs1",
                    "type": "synonym"
                },
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                    "name": "Sig1R",
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                },
                {
                    "name": "Sigmar1",
                    "type": "synonym"
                },
                {
                    "name": "sigma1R",
                    "type": "synonym"
                }
            ],
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                    "id": "0060207",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99720-1",
            "uniprot_ac": "Q99720",
            "uniprot_id": "SGMR1_HUMAN",
            "refseq_ac": "NP_001269134",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sigma non-opioid intracellular receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Aging-associated gene 8 protein",
                    "type": "synonym"
                },
                {
                    "name": "SIG-1R",
                    "type": "synonym"
                },
                {
                    "name": "SR-BP",
                    "type": "synonym"
                },
                {
                    "name": "SR31747 binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SR31747-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1R",
                    "type": "synonym"
                },
                {
                    "name": "aging-associated gene 8 protein",
                    "type": "synonym"
                },
                {
                    "name": "hSigmaR1",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma non-opioid intracellular receptor 1 isoform 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIGMAR1",
                    "type": "recommended"
                },
                {
                    "name": "AAG8",
                    "type": "synonym"
                },
                {
                    "name": "ALS16",
                    "type": "synonym"
                },
                {
                    "name": "DSMA2",
                    "type": "synonym"
                },
                {
                    "name": "HMNR2",
                    "type": "synonym"
                },
                {
                    "name": "OPRS1",
                    "type": "synonym"
                },
                {
                    "name": "SIG-1R",
                    "type": "synonym"
                },
                {
                    "name": "SIGMAR1",
                    "type": "synonym"
                },
                {
                    "name": "SR-BP1",
                    "type": "synonym"
                },
                {
                    "name": "SR-BP",
                    "type": "synonym"
                },
                {
                    "name": "SRBP",
                    "type": "synonym"
                },
                {
                    "name": "hSigmaR1",
                    "type": "synonym"
                },
                {
                    "name": "sigma1R",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99720-1",
            "evidence": [
                {
                    "id": "614373",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614373"
                },
                {
                    "id": "0060207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32352-1",
            "uniprot_ac": "P32352",
            "uniprot_id": "ERG2_YEAST",
            "refseq_ac": "NP_013929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-8 sterol isomerase ERG2",
                    "type": "recommended"
                },
                {
                    "name": "5.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "C-8 sterol isomerase ERG2",
                    "type": "synonym"
                },
                {
                    "name": "Delta-8--delta-7 sterol isomerase ERG2",
                    "type": "synonym"
                },
                {
                    "name": "Ergosterol biosynthetic protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERG2",
                    "type": "recommended"
                },
                {
                    "name": "END11",
                    "type": "synonym"
                },
                {
                    "name": "ERG2",
                    "type": "synonym"
                },
                {
                    "name": "YM8325.03",
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                    "id": "0060207",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060207"
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        {
            "uniprot_canonical_ac": "Q9R0C9-1",
            "uniprot_ac": "Q9R0C9",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sigma non-opioid intracellular receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1R",
                    "type": "synonym"
                },
                {
                    "name": "opioid receptor, sigma 1",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1-type opioid receptor",
                    "type": "synonym"
                },
                {
                    "name": "sigma non-opioid intracellular receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "sigma1-receptor",
                    "type": "synonym"
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                {
                    "name": "sigma1R",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sigmar1",
                    "type": "recommended"
                },
                {
                    "name": "Oprs1",
                    "type": "synonym"
                },
                {
                    "name": "Sigmar1",
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            ],
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                    "id": "0060207",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060207"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060207"
}