{
    "disease_id": "DOID:0111433",
    "recommended_name": {
        "id": "DOID:0111433",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111433",
        "name": "optic atrophy 3",
        "description": "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111433",
            "name": "ADOAC",
            "description": ""
        },
        {
            "id": "DOID:0111433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111433",
            "name": "OPA3",
            "description": ""
        },
        {
            "id": "DOID:0111433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111433",
            "name": "autosomal dominant optic atrophy 3",
            "description": ""
        },
        {
            "id": "DOID:0111433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111433",
            "name": "autosomal dominant optic atrophy and cataract",
            "description": ""
        },
        {
            "id": "DOID:0111433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111433",
            "name": "autosomal dominant optic atrophy type 3",
            "description": ""
        },
        {
            "id": "DOID:0111433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111433",
            "name": "optic atrophy 3 with cataract",
            "description": ""
        },
        {
            "id": "MONDO:0008133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008133",
            "name": "optic atrophy 3",
            "description": ""
        },
        {
            "id": "MONDO:0008133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008133",
            "name": "OPA3, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008133",
            "name": "autosomal dominant optic atrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008133",
            "name": "optic atrophy 3",
            "description": ""
        },
        {
            "id": "MONDO:0008133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008133",
            "name": "OPA3",
            "description": ""
        },
        {
            "id": "MONDO:0008133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008133",
            "name": "optic atrophy 3 with cataract",
            "description": ""
        },
        {
            "id": "MONDO:0008133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008133",
            "name": "optic atrophy 3, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008133",
            "name": "optic atrophy, cataract, and neurologic disorder",
            "description": ""
        },
        {
            "id": "MIM:165300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/165300",
            "name": "Optic atrophy 3",
            "description": "Optic atrophy 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111433"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111433",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111433",
            "categories": []
        },
        {
            "id": "MONDO:0008133",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008133",
            "categories": []
        },
        {
            "id": "MIM:165300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/165300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L9A2-1",
            "uniprot_ac": "Q1L9A2",
            "uniprot_id": "OPA3_DANRE",
            "refseq_ac": "NP_001073635",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Optic atrophy 3 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "OPA3 outer mitochondrial membrane lipid metabolism regulator",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 3 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "opa3",
                    "type": "recommended"
                },
                {
                    "name": "opa3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-12o15.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L9A2-1",
            "evidence": [
                {
                    "id": "0111433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q505D7-1",
            "uniprot_ac": "Q505D7",
            "uniprot_id": "OPA3_MOUSE",
            "refseq_ac": "NP_997408",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Optic atrophy 3 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "optic atrophy 3 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa3",
                    "type": "recommended"
                },
                {
                    "name": "D630048P19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm1425",
                    "type": "synonym"
                },
                {
                    "name": "Gm472",
                    "type": "synonym"
                },
                {
                    "name": "Opa3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q505D7-1",
            "evidence": [
                {
                    "id": "0111433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H6K4-1",
            "uniprot_ac": "Q9H6K4",
            "uniprot_id": "OPA3_HUMAN",
            "refseq_ac": "NP_001017989",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Optic atrophy 3 protein",
                    "type": "recommended"
                },
                {
                    "name": "3-methylglutaconic aciduria type III",
                    "type": "synonym"
                },
                {
                    "name": "OPA3 outer mitochondrial membrane lipid metabolism regulator",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 3 protein isoform a",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 3 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPA3",
                    "type": "recommended"
                },
                {
                    "name": "MGA3",
                    "type": "synonym"
                },
                {
                    "name": "OPA3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H6K4-1",
            "evidence": [
                {
                    "id": "165300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/165300"
                },
                {
                    "id": "0111433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AQB7-1",
            "uniprot_ac": "A0A8I6AQB7",
            "uniprot_id": "A0A8I6AQB7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer mitochondrial membrane lipid metabolism regulator OPA3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AQB7-1",
            "evidence": [
                {
                    "id": "0111433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCG2-1",
            "uniprot_ac": "Q9VCG2",
            "uniprot_id": "OPA31_DROME",
            "refseq_ac": "NP_001287491",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative OPA3-like protein CG43998",
                    "type": "recommended"
                },
                {
                    "name": "CG43998-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:AT03227",
                    "type": "synonym"
                },
                {
                    "name": "CG13602",
                    "type": "synonym"
                },
                {
                    "name": "CG43998",
                    "type": "synonym"
                },
                {
                    "name": "CR43998",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43998",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCG2-1",
            "evidence": [
                {
                    "id": "0111433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCG3-1",
            "uniprot_ac": "Q9VCG3",
            "uniprot_id": "OPA32_DROME",
            "refseq_ac": "NP_651192",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative OPA3-like protein CG13603",
                    "type": "recommended"
                },
                {
                    "name": "CG13601-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13601",
                    "type": "recommended"
                },
                {
                    "name": "CG13601",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13601",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13601",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCG3-1",
            "evidence": [
                {
                    "id": "0111433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KI22-1",
            "uniprot_ac": "Q0KI22",
            "uniprot_id": "Q0KI22_DROME",
            "refseq_ac": "NP_001036749",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "OPA3-like protein CG13603",
                    "type": "recommended"
                },
                {
                    "name": "CG43999-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:AT03227",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT03227",
                    "type": "synonym"
                },
                {
                    "name": "CG13602",
                    "type": "synonym"
                },
                {
                    "name": "CG43999",
                    "type": "synonym"
                },
                {
                    "name": "CR43999",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43999",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43999",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KI22-1",
            "evidence": [
                {
                    "id": "0111433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111433"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111433"
}