{
    "disease_id": "DOID:0111441",
    "recommended_name": {
        "id": "DOID:0111441",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111441",
        "name": "optic atrophy 1",
        "description": "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "DOID:0111441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111441",
            "name": "OPA1",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "autosomal dominant optic atrophy, classic form",
            "description": "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects."
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "Kjer optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "autosomal dominant optic atrophy, Kjer type",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "optic atrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "OAK",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "OPA1",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "optic atrophy 1",
            "description": ""
        },
        {
            "id": "MIM:165500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/165500",
            "name": "Optic atrophy 1",
            "description": "Optic atrophy 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111441"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111441",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111441",
            "categories": []
        },
        {
            "id": "MONDO:0008134",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "categories": []
        },
        {
            "id": "MIM:165500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/165500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TF70-1",
            "uniprot_ac": "A0A8N7TF70",
            "uniprot_id": "A0A8N7TF70_DANRE",
            "refseq_ac": "XP_695252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Wolframin",
                    "type": "synonym"
                },
                {
                    "name": "wolframin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wfs1a",
                    "type": "recommended"
                },
                {
                    "name": "wfs1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TF70-1",
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                {
                    "id": "0111441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111441"
                }
            ]
        },
        {
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            "uniprot_ac": "Q5U3A7",
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            "species": [
                {
                    "name": "Danio rerio",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
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                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
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                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "opa1",
                    "type": "recommended"
                },
                {
                    "name": "fk62d06",
                    "type": "synonym"
                },
                {
                    "name": "opa1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb77a10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk62d06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92092",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U3A7-1",
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                {
                    "id": "0111441",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58281-1",
            "uniprot_ac": "P58281",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
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                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Large GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "LargeG",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
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                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "large GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "largeG",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa1",
                    "type": "recommended"
                },
                {
                    "name": "1200011N24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Opa1",
                    "type": "synonym"
                },
                {
                    "name": "lilr3",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0567",
                    "type": "synonym"
                }
            ],
            "record_id": "P58281-1",
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                {
                    "id": "0111441",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111441"
                }
            ]
        },
        {
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            "uniprot_ac": "P56695",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Wolframin",
                    "type": "recommended"
                },
                {
                    "name": "Wolfram syndrome 1 homolog",
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                },
                {
                    "name": "Wolfram syndrome 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "wolframin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Wfs1",
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                },
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                    "name": "Wfs1",
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                    "name": "wolframin",
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            ],
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                {
                    "id": "0111441",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60313-1",
            "uniprot_ac": "O60313",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like guanosine triphosphatase",
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                {
                    "name": "mitochondrial dynamin-like GTPase",
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                },
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                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1",
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                }
            ],
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                {
                    "name": "OPA1",
                    "type": "recommended"
                },
                {
                    "name": "BERHS",
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                },
                {
                    "name": "KIAA0567",
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                },
                {
                    "name": "MGM1",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14A",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14B",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14",
                    "type": "synonym"
                },
                {
                    "name": "NPG",
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                },
                {
                    "name": "NTG",
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                },
                {
                    "name": "OPA1",
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                    "name": "largeG",
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                }
            ],
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                {
                    "id": "0111441",
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            ]
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            "uniprot_canonical_ac": "P32266-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Dynamin-like GTPase MGM1, mitochondrial",
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                {
                    "name": "Mitochondrial division and morphology protein 17",
                    "type": "synonym"
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                {
                    "name": "Mitochondrial genome maintenance protein 1",
                    "type": "synonym"
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                {
                    "name": "dynamin-related GTPase MGM1",
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                    "name": "MDM17",
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                    "name": "MNA1",
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                    "name": "YOR50-1",
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                    "id": "0111441",
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            "uniprot_canonical_ac": "Q2TA68-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                }
            ],
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                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
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                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "RN protein",
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                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
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                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 4 precursor",
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                },
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                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
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                {
                    "name": "mitochondrial OPA1",
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                    "name": "optic atrophy 1 (autosomal dominant)",
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                    "name": "optic atrophy 1 homolog",
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                    "name": "optic atrophy 1-like protein",
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                    "name": "optic atrophy protein 1 homolog",
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            ],
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                    "id": "0111441",
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            "uniprot_canonical_ac": "E9PT53-1",
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            "uniprot_id": "E9PT53_RAT",
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                {
                    "name": "Rattus norvegicus",
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                }
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                    "id": "0111441",
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            "uniprot_canonical_ac": "A1Z9N0-1",
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                    "name": "Drosophila melanogaster",
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            ],
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                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
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                    "name": "CG8479-PA",
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                    "name": "Opa1-PA",
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                    "name": "Opa1-like",
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                    "name": "dOpa1",
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                    "name": "drosophila optic atrophy 1-like",
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                    "name": "lethal (2) s3475",
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                {
                    "name": "optic atrophy 1 ortholog",
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                {
                    "name": "optic atrophy 1, isoform A",
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                    "name": "Opa1",
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                    "name": "Opa1-like",
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                    "name": "Opa1",
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                    "name": "dOPA1",
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                    "name": "dOpa1",
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                    "name": "dOpa",
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                    "id": "0111441",
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                }
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                    "name": "Wolframin",
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                {
                    "name": "wolfram syndrome 1, isoform C",
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                    "name": "Dmel\\CG4917",
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                    "name": "wfs1",
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            ],
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                    "id": "0111441",
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            "uniprot_canonical_ac": "O76024-1",
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                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                }
            ],
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                    "name": "Wolframin",
                    "type": "recommended"
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                {
                    "name": "Wolfram syndrome 1 (wolframin)",
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                {
                    "name": "wolframin",
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                {
                    "name": "WFS1",
                    "type": "recommended"
                },
                {
                    "name": "CTRCT41",
                    "type": "synonym"
                },
                {
                    "name": "WFRS",
                    "type": "synonym"
                },
                {
                    "name": "WFS1",
                    "type": "synonym"
                },
                {
                    "name": "WFSL",
                    "type": "synonym"
                },
                {
                    "name": "WFS",
                    "type": "synonym"
                }
            ],
            "record_id": "O76024-1",
            "evidence": [
                {
                    "id": "0111441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111441"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111441"
}