{
    "disease_id": "DOID:0112101",
    "recommended_name": {
        "id": "DOID:0112101",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112101",
        "name": "mitochondrial type mitochondrial complex I deficiency 1",
        "description": "A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome."
    },
    "synonyms": [
        {
            "id": "DOID:0112101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112101",
            "name": "MC1DM1",
            "description": ""
        },
        {
            "id": "MONDO:0027068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027068",
            "name": "mitochondrial complex I deficiency, mitochondrial type 1",
            "description": "Any mitochondrial complex I deficiency, mitochondrial type, in which the cause of the disease is a mutation in the MTND3 gene."
        },
        {
            "id": "MONDO:0027068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027068",
            "name": "MC1DM1",
            "description": ""
        },
        {
            "id": "MONDO:0027068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027068",
            "name": "mitochondrial complex I deficiency, mitochondrial type 1",
            "description": ""
        },
        {
            "id": "MIM:500014",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/500014",
            "name": "Mitochondrial complex I deficiency, mitochondrial type 1",
            "description": "Mitochondrial complex I deficiency, mitochondrial type 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112101"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112101",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112101",
            "categories": []
        },
        {
            "id": "MONDO:0027068",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027068",
            "categories": []
        },
        {
            "id": "MIM:500014",
            "database": "MIM",
            "url": "https://www.omim.org/entry/500014",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P03897-1",
            "uniprot_ac": "P03897",
            "uniprot_id": "NU3M_HUMAN",
            "refseq_ac": "YP_003024033",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH-ubiquinone oxidoreductase chain 3",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase subunit 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MT-ND3",
                    "type": "recommended"
                },
                {
                    "name": "MTND3",
                    "type": "synonym"
                },
                {
                    "name": "NADH3",
                    "type": "synonym"
                },
                {
                    "name": "ND3",
                    "type": "synonym"
                }
            ],
            "record_id": "P03897-1",
            "evidence": [
                {
                    "id": "500014",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/500014"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112101"
}