{
    "disease_id": "DOID:0111751",
    "recommended_name": {
        "id": "DOID:0111751",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111751",
        "name": "mitochondrial nonsyndromic sensorineural deafness",
        "description": "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI."
    },
    "synonyms": [
        {
            "id": "MONDO:0010779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010779",
            "name": "mitochondrial non-syndromic sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0010779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010779",
            "name": "deafness, isolated, due to mitochondrial transmission",
            "description": ""
        },
        {
            "id": "MONDO:0010779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010779",
            "name": "isolated mitochondrial neurosensory deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010779",
            "name": "isolated mitochondrial sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010779",
            "name": "mitochondrial non-syndromic neurosensory deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010779",
            "name": "mitochondrial non-syndromic sensorineural deafness",
            "description": ""
        },
        {
            "id": "MIM:500008",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/500008",
            "name": "Deafness, sensorineural, mitochondrial",
            "description": "Deafness, sensorineural, mitochondrial"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111751"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111751",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111751",
            "categories": []
        },
        {
            "id": "MONDO:0010779",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010779",
            "categories": []
        },
        {
            "id": "MIM:500008",
            "database": "MIM",
            "url": "https://www.omim.org/entry/500008",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P00395-1",
            "uniprot_ac": "P00395",
            "uniprot_id": "COX1_HUMAN",
            "refseq_ac": "YP_003024028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide I",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MT-CO1",
                    "type": "recommended"
                },
                {
                    "name": "COI",
                    "type": "synonym"
                },
                {
                    "name": "COX1",
                    "type": "synonym"
                },
                {
                    "name": "COXI",
                    "type": "synonym"
                },
                {
                    "name": "MTCO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P00395-1",
            "evidence": [
                {
                    "id": "500008",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/500008"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111751"
}