{
    "disease_id": "DOID:0070612",
    "recommended_name": {
        "id": "DOID:0070612",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070612",
        "name": "autosomal dominant nonsyndromic deafness 89",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070612",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070612",
            "name": "DFNA89",
            "description": ""
        },
        {
            "id": "DOID:0070612",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070612",
            "name": "autosomal dominant deafness 89",
            "description": ""
        },
        {
            "id": "MONDO:0859528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859528",
            "name": "hearing loss, autosomal dominant 89",
            "description": ""
        },
        {
            "id": "MIM:620284",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620284",
            "name": "Deafness, autosomal dominant, 89",
            "description": "Deafness, autosomal dominant, 89"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070612"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070612",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070612",
            "categories": []
        },
        {
            "id": "MONDO:0859528",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859528",
            "categories": []
        },
        {
            "id": "MIM:620284",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620284",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0R059-1",
            "uniprot_ac": "B0R059",
            "uniprot_id": "B0R059_DANRE",
            "refseq_ac": "NP_571166",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein atonal homolog 1a",
                    "type": "synonym"
                },
                {
                    "name": "atonal homolog 1a",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atoh1a",
                    "type": "recommended"
                },
                {
                    "name": "Atoh1.1",
                    "type": "synonym"
                },
                {
                    "name": "ZATH-1",
                    "type": "synonym"
                },
                {
                    "name": "Zath1a",
                    "type": "synonym"
                },
                {
                    "name": "ath1",
                    "type": "synonym"
                },
                {
                    "name": "atoh1a",
                    "type": "synonym"
                },
                {
                    "name": "atoh1",
                    "type": "synonym"
                },
                {
                    "name": "zath1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136417",
                    "type": "synonym"
                }
            ],
            "record_id": "B0R059-1",
            "evidence": [
                {
                    "id": "0070612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9Q9E7-1",
            "uniprot_ac": "A0A8M9Q9E7",
            "uniprot_id": "A0A8M9Q9E7_DANRE",
            "refseq_ac": "XP_021336148",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein atoh1c",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein atoh1c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atoh1c",
                    "type": "recommended"
                },
                {
                    "name": "atoh1c",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q9E7-1",
            "evidence": [
                {
                    "id": "0070612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48985-1",
            "uniprot_ac": "P48985",
            "uniprot_id": "ATOH1_MOUSE",
            "refseq_ac": "NP_031526",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Atoh1",
                    "type": "recommended"
                },
                {
                    "name": "Atonal bHLH transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Helix-loop-helix protein mATH-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein atonal homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "helix-loop-helix protein mATH-1",
                    "type": "synonym"
                },
                {
                    "name": "mATH1",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Atoh1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atoh1",
                    "type": "recommended"
                },
                {
                    "name": "Ath1",
                    "type": "synonym"
                },
                {
                    "name": "Atoh1",
                    "type": "synonym"
                },
                {
                    "name": "Hath1",
                    "type": "synonym"
                },
                {
                    "name": "MATH-1",
                    "type": "synonym"
                },
                {
                    "name": "Math1",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa14",
                    "type": "synonym"
                }
            ],
            "record_id": "P48985-1",
            "evidence": [
                {
                    "id": "0070612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92858-1",
            "uniprot_ac": "Q92858",
            "uniprot_id": "ATOH1_HUMAN",
            "refseq_ac": "NP_005163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor ATOH1",
                    "type": "recommended"
                },
                {
                    "name": "Atonal bHLH transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Class A basic helix-loop-helix protein 14",
                    "type": "synonym"
                },
                {
                    "name": "Helix-loop-helix protein hATH-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein atonal homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "atonal homolog bHLH transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa14",
                    "type": "synonym"
                },
                {
                    "name": "basic helix-loop-helix family member a14",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 14",
                    "type": "synonym"
                },
                {
                    "name": "hATH1",
                    "type": "synonym"
                },
                {
                    "name": "helix-loop-helix protein hATH-1",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor ATOH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATOH1",
                    "type": "recommended"
                },
                {
                    "name": "ATH1",
                    "type": "synonym"
                },
                {
                    "name": "ATOH1",
                    "type": "synonym"
                },
                {
                    "name": "BHLHA14",
                    "type": "synonym"
                },
                {
                    "name": "DFNA89",
                    "type": "synonym"
                },
                {
                    "name": "HATH1",
                    "type": "synonym"
                },
                {
                    "name": "MATH-1",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92858-1",
            "evidence": [
                {
                    "id": "620284",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620284"
                },
                {
                    "id": "0070612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQL9-1",
            "uniprot_ac": "D3ZQL9",
            "uniprot_id": "D3ZQL9_RAT",
            "refseq_ac": "NP_001102708",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atonal bHLH transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein atonal homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor ATOH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atoh1",
                    "type": "recommended"
                },
                {
                    "name": "Atoh1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565171",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZQL9-1",
            "evidence": [
                {
                    "id": "0070612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y0A7-1",
            "uniprot_ac": "Q9Y0A7",
            "uniprot_id": "AMOS_DROME",
            "refseq_ac": "NP_477446",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Basic helix-loop-helix transcription factor amos",
                    "type": "recommended"
                },
                {
                    "name": "Absent MD neurons and olfactory sensilla protein",
                    "type": "synonym"
                },
                {
                    "name": "Amos protein",
                    "type": "synonym"
                },
                {
                    "name": "CG10393-PA",
                    "type": "synonym"
                },
                {
                    "name": "Reduced olfactory organs protein",
                    "type": "synonym"
                },
                {
                    "name": "Rough eye protein",
                    "type": "synonym"
                },
                {
                    "name": "Rough-eye",
                    "type": "synonym"
                },
                {
                    "name": "absent MD neurons and olfactory sensilla",
                    "type": "synonym"
                },
                {
                    "name": "absent MD neurons",
                    "type": "synonym"
                },
                {
                    "name": "amos-PA",
                    "type": "synonym"
                },
                {
                    "name": "rough eye",
                    "type": "synonym"
                },
                {
                    "name": "tufted",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "amos",
                    "type": "recommended"
                },
                {
                    "name": "Amos",
                    "type": "synonym"
                },
                {
                    "name": "CG10393",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10393",
                    "type": "synonym"
                },
                {
                    "name": "Roi",
                    "type": "synonym"
                },
                {
                    "name": "Tft",
                    "type": "synonym"
                },
                {
                    "name": "amos",
                    "type": "synonym"
                },
                {
                    "name": "asolo",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa10",
                    "type": "synonym"
                },
                {
                    "name": "rolo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y0A7-1",
            "evidence": [
                {
                    "id": "0070612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070612"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070612"
}
