{
    "disease_id": "DOID:0070463",
    "recommended_name": {
        "id": "DOID:0070463",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070463",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 5",
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070463",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070463",
            "name": "MC5DN5",
            "description": ""
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 5",
            "description": "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1D gene."
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "MC5DN5",
            "description": ""
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5",
            "description": ""
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type",
            "description": ""
        },
        {
            "id": "MONDO:0020858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "name": "mitochondrial complex v (atp synthase) deficiency",
            "description": ""
        },
        {
            "id": "MIM:618120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618120",
            "name": "Mitochondrial complex V deficiency, nuclear type 5",
            "description": "Mitochondrial complex V deficiency, nuclear type 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070463"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070463",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070463",
            "categories": []
        },
        {
            "id": "MONDO:0020858",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020858",
            "categories": []
        },
        {
            "id": "MIM:618120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D3D9-1",
            "uniprot_ac": "Q9D3D9",
            "uniprot_id": "ATPD_MOUSE",
            "refseq_ac": "NP_079589",
            "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 delta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(1) complex subunit delta, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F(1) complex subunit delta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F1 subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit delta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "F-ATPase delta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5f1d",
                    "type": "recommended"
                },
                {
                    "name": "0610008F14Rik",
                    "type": "synonym"
                },
                {
                    "name": "1500000I11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atp5d",
                    "type": "synonym"
                },
                {
                    "name": "Atp5f1d",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D3D9-1",
            "evidence": [
                {
                    "id": "0070463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30049-1",
            "uniprot_ac": "P30049",
            "uniprot_id": "ATPD_HUMAN",
            "refseq_ac": "NP_001001975",
            "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 delta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(1) complex subunit delta, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F(1) complex subunit delta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F1 subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit delta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "F-ATPase delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP synthase complex delta-subunit precusor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP synthase, delta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP5F1D",
                    "type": "recommended"
                },
                {
                    "name": "ATP5D",
                    "type": "synonym"
                },
                {
                    "name": "ATP5F1D",
                    "type": "synonym"
                },
                {
                    "name": "MC5DN5",
                    "type": "synonym"
                }
            ],
            "record_id": "P30049-1",
            "evidence": [
                {
                    "id": "618120",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618120"
                },
                {
                    "id": "0070463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12165-1",
            "uniprot_ac": "Q12165",
            "uniprot_id": "ATPD_YEAST",
            "refseq_ac": "NP_010280",
            "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 delta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "F-ATPase delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "F1F0 ATP synthase subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP16",
                    "type": "recommended"
                },
                {
                    "name": "ATP16",
                    "type": "synonym"
                },
                {
                    "name": "D2935",
                    "type": "synonym"
                },
                {
                    "name": "YD8119.03",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12165-1",
            "evidence": [
                {
                    "id": "0070463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35434-1",
            "uniprot_ac": "P35434",
            "uniprot_id": "ATPD_RAT",
            "refseq_ac": "NP_620806",
            "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 delta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(1) complex subunit delta, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F(1) complex subunit delta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F1 subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit delta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "F-ATPase delta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5f1d",
                    "type": "recommended"
                },
                {
                    "name": "Atp5d",
                    "type": "synonym"
                },
                {
                    "name": "Atp5f1d",
                    "type": "synonym"
                }
            ],
            "record_id": "P35434-1",
            "evidence": [
                {
                    "id": "0070463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2X6-1",
            "uniprot_ac": "Q9W2X6",
            "uniprot_id": "Q9W2X6_DROME",
            "refseq_ac": "NP_001259397",
            "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 F(1) complex subunit delta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F1 subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase delta chain",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, delta subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "ATPsyndelta-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG2968-PB",
                    "type": "synonym"
                },
                {
                    "name": "F-ATPase delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "F0/F1 ATP synthase delta",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0230",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATPsyndelta",
                    "type": "recommended"
                },
                {
                    "name": "ATP5D",
                    "type": "synonym"
                },
                {
                    "name": "ATPD",
                    "type": "synonym"
                },
                {
                    "name": "ATPsyndelta",
                    "type": "synonym"
                },
                {
                    "name": "CG2968",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2968",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2968",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.109",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.110",
                    "type": "synonym"
                },
                {
                    "name": "l (1) G0230",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0230",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2X6-1",
            "evidence": [
                {
                    "id": "0070463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070463"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070463"
}