{
    "disease_id": "DOID:0111340",
    "recommended_name": {
        "id": "DOID:0111340",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111340",
        "name": "dominant optic atrophy plus syndrome",
        "description": "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "DOID:0111340",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111340",
            "name": "DOA+",
            "description": ""
        },
        {
            "id": "DOID:0111340",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111340",
            "name": "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0111340",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111340",
            "name": "optic atrophy plus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007429",
            "name": "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0007429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007429",
            "name": "optic atrophy plus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007429",
            "name": "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0007429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007429",
            "name": "optic atrophy 1 and deafness",
            "description": ""
        },
        {
            "id": "MIM:125250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/125250",
            "name": "Optic atrophy plus syndrome",
            "description": "Optic atrophy plus syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111340"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111340",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111340",
            "categories": []
        },
        {
            "id": "MONDO:0007429",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007429",
            "categories": []
        },
        {
            "id": "MIM:125250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/125250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5U3A7-1",
            "uniprot_ac": "Q5U3A7",
            "uniprot_id": "OPA1_DANRE",
            "refseq_ac": "NP_001007299",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "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"
                }
            ],
            "gene_names": [
                {
                    "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",
            "evidence": [
                {
                    "id": "0111340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58281-1",
            "uniprot_ac": "P58281",
            "uniprot_id": "OPA1_MOUSE",
            "refseq_ac": "NP_001186106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Large GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "LargeG",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "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",
            "evidence": [
                {
                    "id": "0111340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60313-1",
            "uniprot_ac": "O60313",
            "uniprot_id": "OPA1_HUMAN",
            "refseq_ac": "NP_056375",
            "glycoprotein": "yes",
            "species": [
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamin-like GTPase",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPA1",
                    "type": "recommended"
                },
                {
                    "name": "BERHS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0567",
                    "type": "synonym"
                },
                {
                    "name": "MGM1",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14A",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14B",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14",
                    "type": "synonym"
                },
                {
                    "name": "NPG",
                    "type": "synonym"
                },
                {
                    "name": "NTG",
                    "type": "synonym"
                },
                {
                    "name": "OPA1",
                    "type": "synonym"
                },
                {
                    "name": "largeG",
                    "type": "synonym"
                }
            ],
            "record_id": "O60313-1",
            "evidence": [
                {
                    "id": "125250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/125250"
                },
                {
                    "id": "0111340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32266-1",
            "uniprot_ac": "P32266",
            "uniprot_id": "MGM1_YEAST",
            "refseq_ac": "NP_014854",
            "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": "Dynamin-like GTPase MGM1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial division and morphology protein 17",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial genome maintenance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-related GTPase MGM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MGM1",
                    "type": "recommended"
                },
                {
                    "name": "MDM17",
                    "type": "synonym"
                },
                {
                    "name": "MGM1",
                    "type": "synonym"
                },
                {
                    "name": "MNA1",
                    "type": "synonym"
                },
                {
                    "name": "YOR50-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32266-1",
            "evidence": [
                {
                    "id": "0111340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2TA68-1",
            "uniprot_ac": "Q2TA68",
            "uniprot_id": "OPA1_RAT",
            "refseq_ac": "NP_598269",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "RN protein",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial OPA1",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa1",
                    "type": "recommended"
                },
                {
                    "name": "Opa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2TA68-1",
            "evidence": [
                {
                    "id": "0111340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9N0-1",
            "uniprot_ac": "A1Z9N0",
            "uniprot_id": "A1Z9N0_DROME",
            "refseq_ac": "NP_725369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "CG8479-PA",
                    "type": "synonym"
                },
                {
                    "name": "Opa1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Opa1-like",
                    "type": "synonym"
                },
                {
                    "name": "dOpa1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila optic atrophy 1-like",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) s3475",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa1",
                    "type": "recommended"
                },
                {
                    "name": "CG8479",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8479",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8479",
                    "type": "synonym"
                },
                {
                    "name": "OPA1-like",
                    "type": "synonym"
                },
                {
                    "name": "OPA1",
                    "type": "synonym"
                },
                {
                    "name": "Opa1-like",
                    "type": "synonym"
                },
                {
                    "name": "Opa1",
                    "type": "synonym"
                },
                {
                    "name": "dOPA1",
                    "type": "synonym"
                },
                {
                    "name": "dOpa1",
                    "type": "synonym"
                },
                {
                    "name": "dOpa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s3475",
                    "type": "synonym"
                },
                {
                    "name": "opa1-like",
                    "type": "synonym"
                },
                {
                    "name": "opa1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9N0-1",
            "evidence": [
                {
                    "id": "0111340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111340"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111340"
}