{
    "disease_id": "DOID:0060331",
    "recommended_name": {
        "id": "DOID:0060331",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060331",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 2",
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060331",
            "name": "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060331",
            "name": "MC5DN2",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2",
            "description": "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria."
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "MC5DN2",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "3-MGCA type IV (3-MGCA-4) (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0013546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "name": "TMEM70 defect",
            "description": ""
        },
        {
            "id": "MIM:614052",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614052",
            "name": "Mitochondrial complex V deficiency, nuclear type 2",
            "description": "Mitochondrial complex V deficiency, nuclear type 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060331"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060331",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060331",
            "categories": []
        },
        {
            "id": "MONDO:0013546",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013546",
            "categories": []
        },
        {
            "id": "MIM:614052",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614052",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FGK5-1",
            "uniprot_ac": "E7FGK5",
            "uniprot_id": "E7FGK5_DANRE",
            "refseq_ac": "XP_002660878",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 70, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 70, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem70",
                    "type": "recommended"
                },
                {
                    "name": "tmem70",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FGK5-1",
            "evidence": [
                {
                    "id": "0060331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q921N7-1",
            "uniprot_ac": "Q921N7",
            "uniprot_id": "TMM70_MOUSE",
            "refseq_ac": "NP_080668",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 70, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 70, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 70, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem70",
                    "type": "recommended"
                },
                {
                    "name": "1110020A09Rik",
                    "type": "synonym"
                },
                {
                    "name": "2210416J16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tmem70",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921N7-1",
            "evidence": [
                {
                    "id": "0060331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BUB7-1",
            "uniprot_ac": "Q9BUB7",
            "uniprot_id": "TMM70_HUMAN",
            "refseq_ac": "NP_001035703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 70, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial complex V deficiency, nuclear type 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 70, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 70, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM70",
                    "type": "recommended"
                },
                {
                    "name": "MC5DN2",
                    "type": "synonym"
                },
                {
                    "name": "TMEM70",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BUB7-1",
            "evidence": [
                {
                    "id": "614052",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614052"
                },
                {
                    "id": "0060331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z946-1",
            "uniprot_ac": "D3Z946",
            "uniprot_id": "D3Z946_RAT",
            "refseq_ac": "NP_001102728",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 70",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 70, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem70",
                    "type": "recommended"
                },
                {
                    "name": "RGD1566224",
                    "type": "synonym"
                },
                {
                    "name": "Tmem70",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z946-1",
            "evidence": [
                {
                    "id": "0060331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95SS8-1",
            "uniprot_ac": "Q95SS8",
            "uniprot_id": "TMM70_DROME",
            "refseq_ac": "NP_648144",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 70 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG7506-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem70",
                    "type": "recommended"
                },
                {
                    "name": "CG7506",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7506",
                    "type": "synonym"
                },
                {
                    "name": "dTMEM70",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95SS8-1",
            "evidence": [
                {
                    "id": "0060331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060331"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060331"
}