{
    "disease_id": "DOID:0111755",
    "recommended_name": {
        "id": "DOID:0111755",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111755",
        "name": "Leber hereditary optic neuropathy and dystonia",
        "description": "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I."
    },
    "synonyms": [
        {
            "id": "DOID:0111755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111755",
            "name": "familial dystonia with visual failure and striatal lucencies",
            "description": ""
        },
        {
            "id": "DOID:0111755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111755",
            "name": "LDYT",
            "description": ""
        },
        {
            "id": "DOID:0111755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111755",
            "name": "Leber optic atrophy and dystonia",
            "description": ""
        },
        {
            "id": "DOID:0111755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111755",
            "name": "Leber optic atrophy with dystonia",
            "description": ""
        },
        {
            "id": "DOID:0111755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111755",
            "name": "Marsden syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010772",
            "name": "Leber optic atrophy and dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0010772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010772",
            "name": "Leber optic atrophy and dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0010772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010772",
            "name": "LDYT",
            "description": ""
        },
        {
            "id": "MONDO:0010772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010772",
            "name": "LHON and dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0010772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010772",
            "name": "Leber Hereditary optic neuropathy with dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0010772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010772",
            "name": "Leber's hereditary optic neuropathy with dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0010772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010772",
            "name": "dystonia familial, with visual failure and striatal lucencies",
            "description": ""
        },
        {
            "id": "MONDO:0010772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010772",
            "name": "dystonia, familial, with visual failure and striatal lucencies",
            "description": ""
        },
        {
            "id": "MIM:500001",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/500001",
            "name": "Leber hereditary optic neuropathy with dystonia",
            "description": "Leber hereditary optic neuropathy with dystonia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111755"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111755",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111755",
            "categories": []
        },
        {
            "id": "MONDO:0010772",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010772",
            "categories": []
        },
        {
            "id": "MIM:500001",
            "database": "MIM",
            "url": "https://www.omim.org/entry/500001",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P00848-1",
            "uniprot_ac": "P00848",
            "uniprot_id": "ATP6_MOUSE",
            "refseq_ac": "NP_904333",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(0) complex subunit a",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F0 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "F-ATPase protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Proton-conducting channel, ATP synthase F(0) complex subunit a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtatp6",
                    "type": "recommended"
                },
                {
                    "name": "ATP6",
                    "type": "synonym"
                },
                {
                    "name": "Atp6",
                    "type": "synonym"
                },
                {
                    "name": "Atpase6",
                    "type": "synonym"
                },
                {
                    "name": "mt-Atp6",
                    "type": "synonym"
                }
            ],
            "record_id": "P00848-1",
            "evidence": [
                {
                    "id": "0111755",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111755"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P03905-1",
            "uniprot_ac": "P03905",
            "uniprot_id": "NU4M_HUMAN",
            "refseq_ac": "YP_003024035",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH-ubiquinone oxidoreductase chain 4",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MT-ND4",
                    "type": "recommended"
                },
                {
                    "name": "MTND4",
                    "type": "synonym"
                },
                {
                    "name": "NADH4",
                    "type": "synonym"
                },
                {
                    "name": "ND4",
                    "type": "synonym"
                }
            ],
            "record_id": "P03905-1",
            "evidence": [
                {
                    "id": "500001",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/500001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P03923-1",
            "uniprot_ac": "P03923",
            "uniprot_id": "NU6M_HUMAN",
            "refseq_ac": "YP_003024037",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH-ubiquinone oxidoreductase chain 6",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase subunit 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MT-ND6",
                    "type": "recommended"
                },
                {
                    "name": "MTND6",
                    "type": "synonym"
                },
                {
                    "name": "NADH6",
                    "type": "synonym"
                },
                {
                    "name": "ND6",
                    "type": "synonym"
                }
            ],
            "record_id": "P03923-1",
            "evidence": [
                {
                    "id": "500001",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/500001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00854-1",
            "uniprot_ac": "P00854",
            "uniprot_id": "ATP6_YEAST",
            "refseq_ac": "NP_009313",
            "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": "ATP synthase subunit a",
                    "type": "recommended"
                },
                {
                    "name": "F-ATPase protein 6",
                    "type": "synonym"
                },
                {
                    "name": "F1F0 ATP synthase subunit a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP6",
                    "type": "recommended"
                },
                {
                    "name": "ATP6",
                    "type": "synonym"
                },
                {
                    "name": "OLI2",
                    "type": "synonym"
                },
                {
                    "name": "OLI4",
                    "type": "synonym"
                },
                {
                    "name": "PHO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P00854-1",
            "evidence": [
                {
                    "id": "0111755",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111755"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05504-1",
            "uniprot_ac": "P05504",
            "uniprot_id": "ATP6_RAT",
            "refseq_ac": "YP_665634",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(0) complex subunit a",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F0 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "F-ATPase protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Proton-conducting channel, ATP synthase F(0) complex subunit a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mt-atp6",
                    "type": "recommended"
                },
                {
                    "name": "ATP6",
                    "type": "synonym"
                },
                {
                    "name": "Atp6",
                    "type": "synonym"
                },
                {
                    "name": "Atpase6",
                    "type": "synonym"
                },
                {
                    "name": "Mtatp6",
                    "type": "synonym"
                }
            ],
            "record_id": "P05504-1",
            "evidence": [
                {
                    "id": "0111755",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111755"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00850-1",
            "uniprot_ac": "P00850",
            "uniprot_id": "ATP6_DROME",
            "refseq_ac": "YP_009047270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase subunit a",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F0 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "F-ATPase protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mt:ATPase6",
                    "type": "recommended"
                },
                {
                    "name": "ATP6",
                    "type": "synonym"
                },
                {
                    "name": "ATPase6",
                    "type": "synonym"
                },
                {
                    "name": "mt:ATPase6",
                    "type": "synonym"
                }
            ],
            "record_id": "P00850-1",
            "evidence": [
                {
                    "id": "0111755",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111755"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00846-1",
            "uniprot_ac": "P00846",
            "uniprot_id": "ATP6_HUMAN",
            "refseq_ac": "YP_003024031",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(0) complex subunit a",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F0 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "F-ATPase protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Proton-conducting channel, ATP synthase F(0) complex subunit a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MT-ATP6",
                    "type": "recommended"
                },
                {
                    "name": "ATP6",
                    "type": "synonym"
                },
                {
                    "name": "ATPASE6",
                    "type": "synonym"
                },
                {
                    "name": "ATPase6",
                    "type": "synonym"
                },
                {
                    "name": "MTATP6",
                    "type": "synonym"
                }
            ],
            "record_id": "P00846-1",
            "evidence": [
                {
                    "id": "0111755",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111755"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111755"
}