{
    "disease_id": "DOID:0060332",
    "recommended_name": {
        "id": "DOID:0060332",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060332",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 3",
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060332",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060332",
            "name": "MC5DN3",
            "description": ""
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3",
            "description": "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene."
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "MC5DN3",
            "description": ""
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E",
            "description": ""
        },
        {
            "id": "MIM:614053",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614053",
            "name": "Mitochondrial complex V deficiency, nuclear type 3",
            "description": "Mitochondrial complex V deficiency, nuclear type 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060332"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060332",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060332",
            "categories": []
        },
        {
            "id": "MONDO:0013547",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "categories": []
        },
        {
            "id": "MIM:614053",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614053",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W3H2-1",
            "uniprot_ac": "F8W3H2",
            "uniprot_id": "F8W3H2_DANRE",
            "refseq_ac": "NP_001289671",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(1) complex subunit epsilon, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit epsilon, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp5f1e",
                    "type": "recommended"
                },
                {
                    "name": "atp5e",
                    "type": "synonym"
                },
                {
                    "name": "atp5f1e",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-122i22.5",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W3H2-1",
            "evidence": [
                {
                    "id": "0060332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56382-1",
            "uniprot_ac": "P56382",
            "uniprot_id": "ATP5E_MOUSE",
            "refseq_ac": "NP_080259",
            "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(1) complex subunit epsilon, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(1) complex subunit epsilon, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F1 subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase epsilon chain, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit epsilon, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit",
                    "type": "synonym"
                },
                {
                    "name": "ATPase subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP synthase epsilon subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5f1e",
                    "type": "recommended"
                },
                {
                    "name": "2410043G19Rik",
                    "type": "synonym"
                },
                {
                    "name": "ATPE",
                    "type": "synonym"
                },
                {
                    "name": "Atp5e",
                    "type": "synonym"
                },
                {
                    "name": "Atp5f1e",
                    "type": "synonym"
                }
            ],
            "record_id": "P56382-1",
            "evidence": [
                {
                    "id": "0060332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56381-1",
            "uniprot_ac": "P56381",
            "uniprot_id": "ATP5E_HUMAN",
            "refseq_ac": "NP_008817",
            "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(1) complex subunit epsilon, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(1) complex subunit epsilon, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F1 subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit epsilon, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit",
                    "type": "synonym"
                },
                {
                    "name": "ATPase subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "F(0)F(1)-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "H(+)-transporting two-sector ATPase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP synthase epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP5F1E",
                    "type": "recommended"
                },
                {
                    "name": "ATP5E",
                    "type": "synonym"
                },
                {
                    "name": "ATP5F1E",
                    "type": "synonym"
                },
                {
                    "name": "ATPE",
                    "type": "synonym"
                },
                {
                    "name": "MC5DN3",
                    "type": "synonym"
                }
            ],
            "record_id": "P56381-1",
            "evidence": [
                {
                    "id": "614053",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614053"
                },
                {
                    "id": "0060332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21306-1",
            "uniprot_ac": "P21306",
            "uniprot_id": "ATP5E_YEAST",
            "refseq_ac": "NP_015052",
            "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 epsilon, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATPase subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "F1F0 ATP synthase subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP15",
                    "type": "recommended"
                },
                {
                    "name": "ATP15",
                    "type": "synonym"
                },
                {
                    "name": "P0345",
                    "type": "synonym"
                }
            ],
            "record_id": "P21306-1",
            "evidence": [
                {
                    "id": "0060332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29418-1",
            "uniprot_ac": "P29418",
            "uniprot_id": "ATP5E_RAT",
            "refseq_ac": "NP_620799",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(1) complex subunit epsilon, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(1) complex subunit epsilon, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F1 subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit epsilon, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit",
                    "type": "synonym"
                },
                {
                    "name": "ATPase subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5f1e",
                    "type": "recommended"
                },
                {
                    "name": "Atp5e",
                    "type": "synonym"
                },
                {
                    "name": "Atp5f1e",
                    "type": "synonym"
                }
            ],
            "record_id": "P29418-1",
            "evidence": [
                {
                    "id": "0060332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R601-1",
            "uniprot_ac": "M0R601",
            "uniprot_id": "M0R601_RAT",
            "refseq_ac": "XP_038948463",
            "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(1) complex subunit epsilon, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F1 subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit epsilon, mitochondrial-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC100361879",
                    "type": "recommended"
                },
                {
                    "name": "LOC100361879",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R601-1",
            "evidence": [
                {
                    "id": "0060332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXN2-1",
            "uniprot_ac": "Q9VXN2",
            "uniprot_id": "SUN_DROME",
            "refseq_ac": "NP_524682",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein stunted",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, epsilon subunit",
                    "type": "synonym"
                },
                {
                    "name": "CG9032-PA",
                    "type": "synonym"
                },
                {
                    "name": "F0/F1 ATP synthase epsilon",
                    "type": "synonym"
                },
                {
                    "name": "stunted, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "stunted",
                    "type": "synonym"
                },
                {
                    "name": "sun-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sun",
                    "type": "recommended"
                },
                {
                    "name": "ATP5E",
                    "type": "synonym"
                },
                {
                    "name": "ATPE",
                    "type": "synonym"
                },
                {
                    "name": "ATPsynepsilon",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RE19513",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH48911",
                    "type": "synonym"
                },
                {
                    "name": "CG9032",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9032",
                    "type": "synonym"
                },
                {
                    "name": "Sun",
                    "type": "synonym"
                },
                {
                    "name": "l(1)13Fe",
                    "type": "synonym"
                },
                {
                    "name": "l(1)XV",
                    "type": "synonym"
                },
                {
                    "name": "sun",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXN2-1",
            "evidence": [
                {
                    "id": "0060332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH24-1",
            "uniprot_ac": "Q9VH24",
            "uniprot_id": "Q9VH24_DROME",
            "refseq_ac": "NP_001097736",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, epsilon subunit-like, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, epsilon subunit-like, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, epsilon subunit-like, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ATPsynepsilonL-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG31477-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATPsynepsilonL",
                    "type": "recommended"
                },
                {
                    "name": "ATPE",
                    "type": "synonym"
                },
                {
                    "name": "ATPsynepsilonL",
                    "type": "synonym"
                },
                {
                    "name": "CG12810",
                    "type": "synonym"
                },
                {
                    "name": "CG31477",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31477",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31477",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH24-1",
            "evidence": [
                {
                    "id": "0060332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5VTU8-1",
            "uniprot_ac": "Q5VTU8",
            "uniprot_id": "AT5EL_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase subunit epsilon-like protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F1 subunit epsilon pseudogene 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP5F1EP2",
                    "type": "recommended"
                },
                {
                    "name": "ATP5EP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5VTU8-1",
            "evidence": [
                {
                    "id": "0060332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060332"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060332"
}