{
    "disease_id": "DOID:0110586",
    "recommended_name": {
        "id": "DOID:0110586",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110586",
        "name": "autosomal dominant nonsyndromic deafness 65",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110586",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110586",
            "name": "DFNA65",
            "description": ""
        },
        {
            "id": "DOID:0110586",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110586",
            "name": "autosomal dominant deafness 65",
            "description": ""
        },
        {
            "id": "MONDO:0014470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "name": "autosomal dominant nonsyndromic hearing loss 65",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene."
        },
        {
            "id": "MONDO:0014470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "name": "DFNA65",
            "description": ""
        },
        {
            "id": "MONDO:0014470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "name": "TBC1D24 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "name": "autosomal dominant deafness 65",
            "description": ""
        },
        {
            "id": "MONDO:0014470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "name": "autosomal dominant nonsyndromic deafness 65",
            "description": ""
        },
        {
            "id": "MONDO:0014470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24",
            "description": ""
        },
        {
            "id": "MONDO:0014470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "name": "autosomal dominant nonsyndromic deafness type 65",
            "description": ""
        },
        {
            "id": "MONDO:0014470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "name": "deafness, autosomal dominant 65",
            "description": ""
        },
        {
            "id": "MONDO:0014470",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "name": "deafness, autosomal dominant type 65",
            "description": ""
        },
        {
            "id": "MIM:616044",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616044",
            "name": "Deafness, autosomal dominant, 65",
            "description": "Deafness, autosomal dominant, 65"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110586"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110586",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110586",
            "categories": []
        },
        {
            "id": "MONDO:0014470",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014470",
            "categories": []
        },
        {
            "id": "MIM:616044",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616044",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RN56-1",
            "uniprot_ac": "A0A8M1RN56",
            "uniprot_id": "A0A8M1RN56_DANRE",
            "refseq_ac": "XP_003201409",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 24",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 24 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbc1d24",
                    "type": "recommended"
                },
                {
                    "name": "tbc1d24",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RN56-1",
            "evidence": [
                {
                    "id": "0110586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110586"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UUG6-1",
            "uniprot_ac": "Q3UUG6",
            "uniprot_id": "TBC24_MOUSE",
            "refseq_ac": "NP_001157319",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 24",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 24 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d24",
                    "type": "recommended"
                },
                {
                    "name": "9630033P11",
                    "type": "synonym"
                },
                {
                    "name": "C530046L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1171",
                    "type": "synonym"
                },
                {
                    "name": "Tbc1d24",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1171",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UUG6-1",
            "evidence": [
                {
                    "id": "0110586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110586"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULP9-1",
            "uniprot_ac": "Q9ULP9",
            "uniprot_id": "TBC24_HUMAN",
            "refseq_ac": "NP_065756",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 24",
                    "type": "recommended"
                },
                {
                    "name": "Infantile myoclonic epilepsy",
                    "type": "synonym"
                },
                {
                    "name": "TBC/LysM-associated domain containing 6",
                    "type": "synonym"
                },
                {
                    "name": "TBC1 domain family member 24 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal dominant 65",
                    "type": "synonym"
                },
                {
                    "name": "skywalker homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBC1D24",
                    "type": "recommended"
                },
                {
                    "name": "DEE16",
                    "type": "synonym"
                },
                {
                    "name": "DFNA65",
                    "type": "synonym"
                },
                {
                    "name": "DFNB86",
                    "type": "synonym"
                },
                {
                    "name": "DOORS",
                    "type": "synonym"
                },
                {
                    "name": "EIEE16",
                    "type": "synonym"
                },
                {
                    "name": "EIM",
                    "type": "synonym"
                },
                {
                    "name": "EPRPDC",
                    "type": "synonym"
                },
                {
                    "name": "FIME",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1171",
                    "type": "synonym"
                },
                {
                    "name": "TBC1D24",
                    "type": "synonym"
                },
                {
                    "name": "TLDC6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULP9-1",
            "evidence": [
                {
                    "id": "616044",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616044"
                },
                {
                    "id": "0110586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110586"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K5B0-1",
            "uniprot_ac": "A0A0G2K5B0",
            "uniprot_id": "TBC24_RAT",
            "refseq_ac": "XP_038941277",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 24",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 24 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d24",
                    "type": "recommended"
                },
                {
                    "name": "RGD1306143",
                    "type": "synonym"
                },
                {
                    "name": "Tbc1d24",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K5B0-1",
            "evidence": [
                {
                    "id": "0110586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110586"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIH7-1",
            "uniprot_ac": "Q9VIH7",
            "uniprot_id": "SKY_DROME",
            "refseq_ac": "NP_001163026",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase-activating protein skywalker",
                    "type": "recommended"
                },
                {
                    "name": "CG9339-PI",
                    "type": "synonym"
                },
                {
                    "name": "sky-PI",
                    "type": "synonym"
                },
                {
                    "name": "skywalker, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "skywalker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sky",
                    "type": "recommended"
                },
                {
                    "name": "CG14399",
                    "type": "synonym"
                },
                {
                    "name": "CG9339",
                    "type": "synonym"
                },
                {
                    "name": "CG9340",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9339",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9339",
                    "type": "synonym"
                },
                {
                    "name": "Sky",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.455",
                    "type": "synonym"
                },
                {
                    "name": "sky",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIH7-1",
            "evidence": [
                {
                    "id": "0110586",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110586"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110586"
}