{
    "disease_id": "DOID:0111748",
    "recommended_name": {
        "id": "DOID:0111748",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111748",
        "name": "mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1",
        "description": "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6."
    },
    "synonyms": [
        {
            "id": "DOID:0111748",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111748",
            "name": "MC5DM1",
            "description": ""
        },
        {
            "id": "MONDO:0027069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027069",
            "name": "mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1",
            "description": ""
        },
        {
            "id": "MONDO:0027069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027069",
            "name": "MC5DM1",
            "description": ""
        },
        {
            "id": "MONDO:0027069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027069",
            "name": "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1",
            "description": ""
        },
        {
            "id": "MIM:500015",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/500015",
            "name": "Mitochondrial complex V deficiency, mitochondrial 1",
            "description": "Mitochondrial complex V deficiency, mitochondrial 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111748"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111748",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111748",
            "categories": []
        },
        {
            "id": "MONDO:0027069",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027069",
            "categories": []
        },
        {
            "id": "MIM:500015",
            "database": "MIM",
            "url": "https://www.omim.org/entry/500015",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P00846-1",
            "uniprot_ac": "P00846",
            "uniprot_id": "ATP6_HUMAN",
            "refseq_ac": "YP_003024031",
            "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(0) complex subunit a",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F0 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "F-ATPase protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Proton-conducting channel, ATP synthase F(0) complex subunit a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MT-ATP6",
                    "type": "recommended"
                },
                {
                    "name": "ATP6",
                    "type": "synonym"
                },
                {
                    "name": "ATPASE6",
                    "type": "synonym"
                },
                {
                    "name": "ATPase6",
                    "type": "synonym"
                },
                {
                    "name": "MTATP6",
                    "type": "synonym"
                }
            ],
            "record_id": "P00846-1",
            "evidence": [
                {
                    "id": "500015",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/500015"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111748"
}