{
    "disease_id": "DOID:0112166",
    "recommended_name": {
        "id": "DOID:0112166",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112166",
        "name": "autosomal dominant nonsyndromic deafness 75",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112166",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112166",
            "name": "DFNA75",
            "description": ""
        },
        {
            "id": "MONDO:0032911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032911",
            "name": "hearing loss, autosomal dominant 75",
            "description": ""
        },
        {
            "id": "MONDO:0032911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032911",
            "name": "DEAFNESS, AUTOSOMAL DOMINANT 75",
            "description": ""
        },
        {
            "id": "MONDO:0032911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032911",
            "name": "DFNA75",
            "description": ""
        },
        {
            "id": "MONDO:0032911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032911",
            "name": "deafness, autosomal dominant 75",
            "description": ""
        },
        {
            "id": "MIM:618778",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618778",
            "name": "Deafness, autosomal dominant, 75",
            "description": "Deafness, autosomal dominant, 75"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112166"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112166",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112166",
            "categories": []
        },
        {
            "id": "MONDO:0032911",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032911",
            "categories": []
        },
        {
            "id": "MIM:618778",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618778",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4ITC5-1",
            "uniprot_ac": "A0A0R4ITC5",
            "uniprot_id": "TRRAP_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transformation/transcription domain-associated protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "trrap",
                    "type": "recommended"
                },
                {
                    "name": "fc54d09",
                    "type": "synonym"
                },
                {
                    "name": "im:7154030",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc54d09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ITC5-1",
            "evidence": [
                {
                    "id": "0112166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80YV3-1",
            "uniprot_ac": "Q80YV3",
            "uniprot_id": "TRRAP_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transformation/transcription domain-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "Tra1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trrap",
                    "type": "recommended"
                }
            ],
            "record_id": "Q80YV3-1",
            "evidence": [
                {
                    "id": "0112166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4A5-1",
            "uniprot_ac": "Q9Y4A5",
            "uniprot_id": "TRRAP_HUMAN",
            "refseq_ac": "NP_001231509",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transformation/transcription domain-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "350/400 kDa PCAF-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "PAF350/400",
                    "type": "synonym"
                },
                {
                    "name": "STAF40",
                    "type": "synonym"
                },
                {
                    "name": "Tra1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tra1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "transformation/transcription domain-associated protein isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRRAP",
                    "type": "recommended"
                },
                {
                    "name": "DEDDFA",
                    "type": "synonym"
                },
                {
                    "name": "DFNA75",
                    "type": "synonym"
                },
                {
                    "name": "PAF350/400",
                    "type": "synonym"
                },
                {
                    "name": "PAF400",
                    "type": "synonym"
                },
                {
                    "name": "STAF40",
                    "type": "synonym"
                },
                {
                    "name": "TR-AP",
                    "type": "synonym"
                },
                {
                    "name": "TRRAP",
                    "type": "synonym"
                },
                {
                    "name": "Tra1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y4A5-1",
            "evidence": [
                {
                    "id": "618778",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618778"
                },
                {
                    "id": "0112166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38811-1",
            "uniprot_ac": "P38811",
            "uniprot_id": "TRA1_YEAST",
            "refseq_ac": "NP_011967",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "SAGA complex/NuA4 acetyltransferase complex subunit TRA1",
                    "type": "recommended"
                },
                {
                    "name": "Transcription-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase TRA1",
                    "type": "synonym"
                },
                {
                    "name": "p400 kDa component of SAGA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRA1",
                    "type": "recommended"
                },
                {
                    "name": "TRA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38811-1",
            "evidence": [
                {
                    "id": "0112166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M266-1",
            "uniprot_ac": "A0ABK0M266",
            "uniprot_id": "A0ABK0M266_RAT",
            "refseq_ac": "XP_063127197",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transformation/transcription domain-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "transformation/transcription domain-associated protein isoform X9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trrap",
                    "type": "recommended"
                },
                {
                    "name": "Trrap",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M266-1",
            "evidence": [
                {
                    "id": "0112166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8I8U7-1",
            "uniprot_ac": "Q8I8U7",
            "uniprot_id": "TRA1_DROME",
            "refseq_ac": "NP_001097192",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG33554-PE",
                    "type": "synonym"
                },
                {
                    "name": "Nipped-A, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Nipped-A-PE",
                    "type": "synonym"
                },
                {
                    "name": "NippedA",
                    "type": "synonym"
                },
                {
                    "name": "dTRA1",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)41Ah",
                    "type": "synonym"
                },
                {
                    "name": "nipped",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nipped-A",
                    "type": "recommended"
                },
                {
                    "name": "41Ah",
                    "type": "synonym"
                },
                {
                    "name": "CG10549",
                    "type": "synonym"
                },
                {
                    "name": "CG2905",
                    "type": "synonym"
                },
                {
                    "name": "CG33554",
                    "type": "synonym"
                },
                {
                    "name": "DmTrrap",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33554",
                    "type": "synonym"
                },
                {
                    "name": "GroupV",
                    "type": "synonym"
                },
                {
                    "name": "Nip-A",
                    "type": "synonym"
                },
                {
                    "name": "NipA",
                    "type": "synonym"
                },
                {
                    "name": "Nipped A",
                    "type": "synonym"
                },
                {
                    "name": "Nipped-A",
                    "type": "synonym"
                },
                {
                    "name": "Nipped[A]",
                    "type": "synonym"
                },
                {
                    "name": "TRA1",
                    "type": "synonym"
                },
                {
                    "name": "TRRAP",
                    "type": "synonym"
                },
                {
                    "name": "Tra-1",
                    "type": "synonym"
                },
                {
                    "name": "Tra1",
                    "type": "synonym"
                },
                {
                    "name": "dTRRAP",
                    "type": "synonym"
                },
                {
                    "name": "dTra1",
                    "type": "synonym"
                },
                {
                    "name": "dmTRRAP",
                    "type": "synonym"
                },
                {
                    "name": "l(2)41Ah",
                    "type": "synonym"
                },
                {
                    "name": "l(2)C123",
                    "type": "synonym"
                },
                {
                    "name": "l(2)EMS34-12",
                    "type": "synonym"
                },
                {
                    "name": "nipped-a",
                    "type": "synonym"
                },
                {
                    "name": "tra1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8I8U7-1",
            "evidence": [
                {
                    "id": "0112166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112166"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112166"
}