{
    "disease_id": "DOID:0050768",
    "recommended_name": {
        "id": "DOID:0050768",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050768",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 1",
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11."
    },
    "synonyms": [
        {
            "id": "DOID:0050768",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050768",
            "name": "MC5DN1",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1",
            "description": "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene."
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial complex V deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "MC5DN1",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2",
            "description": ""
        },
        {
            "id": "MONDO:0011421",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "name": "Complex 5 mitochondrial respiratory chain deficiency",
            "description": ""
        },
        {
            "id": "MIM:604273",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604273",
            "name": "Mitochondrial complex V deficiency, nuclear type 1",
            "description": "Mitochondrial complex V deficiency, nuclear type 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050768"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050768",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050768",
            "categories": []
        },
        {
            "id": "MONDO:0011421",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011421",
            "categories": []
        },
        {
            "id": "MIM:604273",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604273",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91YY4-1",
            "uniprot_ac": "Q91YY4",
            "uniprot_id": "ATPF2_MOUSE",
            "refseq_ac": "NP_663402",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase mitochondrial F1 complex assembly factor 2",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase mitochondrial F1 complex assembly factor 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atpaf2",
                    "type": "recommended"
                },
                {
                    "name": "ATP12p",
                    "type": "synonym"
                },
                {
                    "name": "ATP12",
                    "type": "synonym"
                },
                {
                    "name": "Atpaf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YY4-1",
            "evidence": [
                {
                    "id": "0050768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N5M1-1",
            "uniprot_ac": "Q8N5M1",
            "uniprot_id": "ATPF2_HUMAN",
            "refseq_ac": "NP_663729",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase mitochondrial F1 complex assembly factor 2",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase mitochondrial F1 complex assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP12 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATPAF2",
                    "type": "recommended"
                },
                {
                    "name": "ATP12p",
                    "type": "synonym"
                },
                {
                    "name": "ATP12",
                    "type": "synonym"
                },
                {
                    "name": "ATPAF2",
                    "type": "synonym"
                },
                {
                    "name": "LP3663",
                    "type": "synonym"
                },
                {
                    "name": "MC5DN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N5M1-1",
            "evidence": [
                {
                    "id": "604273",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604273"
                },
                {
                    "id": "0050768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22135-1",
            "uniprot_ac": "P22135",
            "uniprot_id": "ATP12_YEAST",
            "refseq_ac": "NP_012355",
            "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": "Protein ATP12, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase complex assembly protein ATP12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP12",
                    "type": "recommended"
                },
                {
                    "name": "ATP12",
                    "type": "synonym"
                },
                {
                    "name": "J0486",
                    "type": "synonym"
                }
            ],
            "record_id": "P22135-1",
            "evidence": [
                {
                    "id": "0050768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LH14-1",
            "uniprot_ac": "A0ABK0LH14",
            "uniprot_id": "A0ABK0LH14_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": "ATP synthase mitochondrial F1 complex assembly factor 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Atpaf2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LH14-1",
            "evidence": [
                {
                    "id": "0050768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VID7-1",
            "uniprot_ac": "Q9VID7",
            "uniprot_id": "Q9VID7_DROME",
            "refseq_ac": "NP_001260668",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8674-PB",
                    "type": "synonym"
                },
                {
                    "name": "Lethal (2) k14505, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Lethal (2) k14505, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k14505-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k14505, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(2)k14505",
                    "type": "recommended"
                },
                {
                    "name": "CG8674",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8674",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8674",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k14505",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VID7-1",
            "evidence": [
                {
                    "id": "0050768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050768"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050768"
}