{
    "disease_id": "DOID:0070610",
    "recommended_name": {
        "id": "DOID:0070610",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070610",
        "name": "autosomal dominant nonsyndromic deafness 86",
        "description": "An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070610",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070610",
            "name": "DFNA86",
            "description": ""
        },
        {
            "id": "DOID:0070610",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070610",
            "name": "autosomal dominant deafness 86",
            "description": ""
        },
        {
            "id": "MONDO:0859524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859524",
            "name": "hearing loss, autosomal dominant 86",
            "description": ""
        },
        {
            "id": "MIM:620280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620280",
            "name": "Deafness, autosomal dominant, 86",
            "description": "Deafness, autosomal dominant, 86"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070610"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070610",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070610",
            "categories": []
        },
        {
            "id": "MONDO:0859524",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859524",
            "categories": []
        },
        {
            "id": "MIM:620280",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620280",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SYB2-1",
            "uniprot_ac": "Q7SYB2",
            "uniprot_id": "THOC1_DANRE",
            "refseq_ac": "NP_958481",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "THO complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thoc1",
                    "type": "recommended"
                },
                {
                    "name": "Tho1",
                    "type": "synonym"
                },
                {
                    "name": "p84",
                    "type": "synonym"
                },
                {
                    "name": "thoc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SYB2-1",
            "evidence": [
                {
                    "id": "0070610",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070610"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R3N6-1",
            "uniprot_ac": "Q8R3N6",
            "uniprot_id": "THOC1_MOUSE",
            "refseq_ac": "NP_705780",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear matrix protein p84",
                    "type": "synonym"
                },
                {
                    "name": "THO complex subunit 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "THO complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear matrix protein p84",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thoc1",
                    "type": "recommended"
                },
                {
                    "name": "3110002N20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hpr1",
                    "type": "synonym"
                },
                {
                    "name": "NMP-84",
                    "type": "synonym"
                },
                {
                    "name": "Thoc1",
                    "type": "synonym"
                },
                {
                    "name": "tho1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R3N6-1",
            "evidence": [
                {
                    "id": "0070610",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070610"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96FV9-1",
            "uniprot_ac": "Q96FV9",
            "uniprot_id": "THOC1_HUMAN",
            "refseq_ac": "NP_005122",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear matrix protein p84",
                    "type": "synonym"
                },
                {
                    "name": "THO complex 1",
                    "type": "synonym"
                },
                {
                    "name": "THO complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "hTREX84",
                    "type": "synonym"
                },
                {
                    "name": "nuclear matrix protein p84",
                    "type": "synonym"
                },
                {
                    "name": "p84N5",
                    "type": "synonym"
                },
                {
                    "name": "tho1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THOC1",
                    "type": "recommended"
                },
                {
                    "name": "DFNA86",
                    "type": "synonym"
                },
                {
                    "name": "HPR1",
                    "type": "synonym"
                },
                {
                    "name": "P84N5",
                    "type": "synonym"
                },
                {
                    "name": "P84",
                    "type": "synonym"
                },
                {
                    "name": "THOC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96FV9-1",
            "evidence": [
                {
                    "id": "620280",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620280"
                },
                {
                    "id": "0070610",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070610"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59924-1",
            "uniprot_ac": "P59924",
            "uniprot_id": "THOC1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "THO complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Liver regeneration-related protein LRRG175",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear matrix protein p84",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thoc1",
                    "type": "recommended"
                },
                {
                    "name": "Da2-19",
                    "type": "synonym"
                }
            ],
            "record_id": "P59924-1",
            "evidence": [
                {
                    "id": "0070610",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070610"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNI8-1",
            "uniprot_ac": "Q9VNI8",
            "uniprot_id": "Q9VNI8_DROME",
            "refseq_ac": "NP_649594",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2031-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hpr1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hpr1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hpr1",
                    "type": "recommended"
                },
                {
                    "name": "CG2031",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2031",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2031",
                    "type": "synonym"
                },
                {
                    "name": "HPR1",
                    "type": "synonym"
                },
                {
                    "name": "Hpr1",
                    "type": "synonym"
                },
                {
                    "name": "THOC1",
                    "type": "synonym"
                },
                {
                    "name": "Thoc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNI8-1",
            "evidence": [
                {
                    "id": "0070610",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070610"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070610"
}