{
    "disease_id": "DOID:0070464",
    "recommended_name": {
        "id": "DOID:0070464",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070464",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 7",
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11."
    },
    "synonyms": [
        {
            "id": "DOID:0070464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070464",
            "name": "MC5DN7",
            "description": ""
        },
        {
            "id": "MONDO:0957255",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957255",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 7",
            "description": ""
        },
        {
            "id": "MIM:620359",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620359",
            "name": "Mitochondrial complex V deficiency, nuclear type 7",
            "description": "Mitochondrial complex V deficiency, nuclear type 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070464"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070464",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070464",
            "categories": []
        },
        {
            "id": "MONDO:0957255",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957255",
            "categories": []
        },
        {
            "id": "MIM:620359",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620359",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DB20-1",
            "uniprot_ac": "Q9DB20",
            "uniprot_id": "ATPO_MOUSE",
            "refseq_ac": "NP_613063",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit O, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit O",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA segment, Chr 12, Wayne State University 28, expressed",
                    "type": "synonym"
                },
                {
                    "name": "OSCP",
                    "type": "synonym"
                },
                {
                    "name": "Oligomycin sensitivity conferral protein",
                    "type": "synonym"
                },
                {
                    "name": "oligomycin sensitivity conferral protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5po",
                    "type": "recommended"
                },
                {
                    "name": "ATPO",
                    "type": "synonym"
                },
                {
                    "name": "Atp5o",
                    "type": "synonym"
                },
                {
                    "name": "Atp5po",
                    "type": "synonym"
                },
                {
                    "name": "D12Wsu28e",
                    "type": "synonym"
                },
                {
                    "name": "OSCP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DB20-1",
            "evidence": [
                {
                    "id": "0070464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48047-1",
            "uniprot_ac": "P48047",
            "uniprot_id": "ATPO_HUMAN",
            "refseq_ac": "NP_001688",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit O, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit O",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit",
                    "type": "synonym"
                },
                {
                    "name": "OSCP",
                    "type": "synonym"
                },
                {
                    "name": "Oligomycin sensitivity conferral protein",
                    "type": "synonym"
                },
                {
                    "name": "human ATP synthase OSCP subunit",
                    "type": "synonym"
                },
                {
                    "name": "oligomycin sensitivity conferral protein oscp-like protein",
                    "type": "synonym"
                },
                {
                    "name": "oligomycin sensitivity conferring protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP5PO",
                    "type": "recommended"
                },
                {
                    "name": "ATP5O",
                    "type": "synonym"
                },
                {
                    "name": "ATP5PO",
                    "type": "synonym"
                },
                {
                    "name": "ATPO",
                    "type": "synonym"
                },
                {
                    "name": "HMC08D05",
                    "type": "synonym"
                },
                {
                    "name": "MC5DN7",
                    "type": "synonym"
                },
                {
                    "name": "OSCP",
                    "type": "synonym"
                }
            ],
            "record_id": "P48047-1",
            "evidence": [
                {
                    "id": "620359",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620359"
                },
                {
                    "id": "0070464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09457-1",
            "uniprot_ac": "P09457",
            "uniprot_id": "ATPO_YEAST",
            "refseq_ac": "NP_010584",
            "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 5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase chain 5",
                    "type": "synonym"
                },
                {
                    "name": "F1F0 ATP synthase subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "OSCP",
                    "type": "synonym"
                },
                {
                    "name": "Oligomycin sensitivity conferral protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP5",
                    "type": "recommended"
                },
                {
                    "name": "ATP5",
                    "type": "synonym"
                },
                {
                    "name": "D9740.11",
                    "type": "synonym"
                },
                {
                    "name": "OSC1",
                    "type": "synonym"
                },
                {
                    "name": "OSCP",
                    "type": "synonym"
                }
            ],
            "record_id": "P09457-1",
            "evidence": [
                {
                    "id": "0070464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06647-1",
            "uniprot_ac": "Q06647",
            "uniprot_id": "ATPO_RAT",
            "refseq_ac": "NP_620238",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit O, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit O",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein)",
                    "type": "synonym"
                },
                {
                    "name": "OSCP",
                    "type": "synonym"
                },
                {
                    "name": "Oligomycin sensitivity conferral protein",
                    "type": "synonym"
                },
                {
                    "name": "Sperm flagella protein 4",
                    "type": "synonym"
                },
                {
                    "name": "oligomycin sensitivity conferral protein",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagella protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5po",
                    "type": "recommended"
                },
                {
                    "name": "Atp5o",
                    "type": "synonym"
                },
                {
                    "name": "Atp5po",
                    "type": "synonym"
                },
                {
                    "name": "Atpo",
                    "type": "synonym"
                },
                {
                    "name": "Oscp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06647-1",
            "evidence": [
                {
                    "id": "0070464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24439-1",
            "uniprot_ac": "Q24439",
            "uniprot_id": "ATPO_DROME",
            "refseq_ac": "NP_524358",
            "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 subunit O, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase oligomycin sensitivity conferral protein",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, oligomycin sensitivity conferring protein",
                    "type": "synonym"
                },
                {
                    "name": "ATPsynO-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG4307-PA",
                    "type": "synonym"
                },
                {
                    "name": "F0/F1 ATP synthase OSCP",
                    "type": "synonym"
                },
                {
                    "name": "OLIGOMYCIN SENSITIVITY CONFERRING PROTEIN",
                    "type": "synonym"
                },
                {
                    "name": "OSCP",
                    "type": "synonym"
                },
                {
                    "name": "Oligomycin sensitivity conferral protein",
                    "type": "synonym"
                },
                {
                    "name": "oligimycin sensitive-conferring protein",
                    "type": "synonym"
                },
                {
                    "name": "oligomycin sensitivity conferring protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "oligomycin sensitivity-conferring protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATPsynO",
                    "type": "recommended"
                },
                {
                    "name": "ATPO_DROME",
                    "type": "synonym"
                },
                {
                    "name": "ATPO",
                    "type": "synonym"
                },
                {
                    "name": "ATPsynO",
                    "type": "synonym"
                },
                {
                    "name": "CG4307",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4307",
                    "type": "synonym"
                },
                {
                    "name": "OSCP",
                    "type": "synonym"
                },
                {
                    "name": "Oscp",
                    "type": "synonym"
                },
                {
                    "name": "dATPsynO",
                    "type": "synonym"
                },
                {
                    "name": "oscp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24439-1",
            "evidence": [
                {
                    "id": "0070464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070464"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070464"
}