{
    "disease_id": "DOID:0110552",
    "recommended_name": {
        "id": "DOID:0110552",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110552",
        "name": "autosomal dominant nonsyndromic deafness 22",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110552",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110552",
            "name": "DFNA22",
            "description": ""
        },
        {
            "id": "DOID:0110552",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110552",
            "name": "autosomal dominant deafness 22",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "autosomal dominant nonsyndromic hearing loss 22",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene."
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "DFNA22",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "MYO6 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "autosomal dominant deafness 22",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "autosomal dominant nonsyndromic deafness 22",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in MYO6",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "autosomal dominant nonsyndromic deafness type 22",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "deafness, autosomal dominant 22",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "deafness, autosomal dominant nonsyndromic sensorineural 22",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "deafness, autosomal dominant type 22",
            "description": ""
        },
        {
            "id": "MONDO:0011660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "name": "DFNA 22",
            "description": ""
        },
        {
            "id": "MIM:606346",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606346",
            "name": "Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy",
            "description": "Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110552"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110552",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110552",
            "categories": []
        },
        {
            "id": "MONDO:0011660",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011660",
            "categories": []
        },
        {
            "id": "MIM:606346",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606346",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N1X8-1",
            "uniprot_ac": "A0A8M1N1X8",
            "uniprot_id": "A0A8M1N1X8_DANRE",
            "refseq_ac": "NP_001004110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-VI",
                    "type": "recommended"
                },
                {
                    "name": "Unconventional myosin-6",
                    "type": "synonym"
                },
                {
                    "name": "myosin VIb",
                    "type": "synonym"
                },
                {
                    "name": "sai",
                    "type": "synonym"
                },
                {
                    "name": "satellite",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myo6b",
                    "type": "recommended"
                },
                {
                    "name": "myo6b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N1X8-1",
            "evidence": [
                {
                    "id": "0110552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110552"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PH95-1",
            "uniprot_ac": "A0A8M9PH95",
            "uniprot_id": "A0A8M9PH95_DANRE",
            "refseq_ac": "NP_001004111",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-VI",
                    "type": "recommended"
                },
                {
                    "name": "Unconventional myosin-6",
                    "type": "synonym"
                },
                {
                    "name": "myosin VIa isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myo6a",
                    "type": "recommended"
                },
                {
                    "name": "myo6a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PH95-1",
            "evidence": [
                {
                    "id": "0110552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110552"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64331-1",
            "uniprot_ac": "Q64331",
            "uniprot_id": "MYO6_MOUSE",
            "refseq_ac": "NP_001034635",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-VI",
                    "type": "recommended"
                },
                {
                    "name": "Protein twist",
                    "type": "synonym"
                },
                {
                    "name": "Snell's waltzer",
                    "type": "synonym"
                },
                {
                    "name": "Unconventional myosin-6",
                    "type": "synonym"
                },
                {
                    "name": "protein twist",
                    "type": "synonym"
                },
                {
                    "name": "tailchaser",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-6",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VI isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo6",
                    "type": "recommended"
                },
                {
                    "name": "Myo6<rsv>",
                    "type": "synonym"
                },
                {
                    "name": "Myo6",
                    "type": "synonym"
                },
                {
                    "name": "Sv",
                    "type": "synonym"
                },
                {
                    "name": "Tlc",
                    "type": "synonym"
                },
                {
                    "name": "rsv",
                    "type": "synonym"
                },
                {
                    "name": "sv",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64331-1",
            "evidence": [
                {
                    "id": "0110552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110552"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UM54-3",
            "uniprot_ac": "Q9UM54",
            "uniprot_id": "MYO6_HUMAN",
            "refseq_ac": "NP_001287828",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-VI",
                    "type": "recommended"
                },
                {
                    "name": "Unconventional myosin-6",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-6",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VI isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO6",
                    "type": "recommended"
                },
                {
                    "name": "DFNA22",
                    "type": "synonym"
                },
                {
                    "name": "DFNB37",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0389",
                    "type": "synonym"
                },
                {
                    "name": "MYO6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UM54-3",
            "evidence": [
                {
                    "id": "606346",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606346"
                },
                {
                    "id": "0110552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110552"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZWC2-1",
            "uniprot_ac": "A0A8I5ZWC2",
            "uniprot_id": "A0A8I5ZWC2_RAT",
            "refseq_ac": "XP_008764647",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-VI",
                    "type": "recommended"
                },
                {
                    "name": "Unconventional myosin-6",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VI isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo6",
                    "type": "recommended"
                },
                {
                    "name": "Myo6",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560646",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZWC2-1",
            "evidence": [
                {
                    "id": "0110552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110552"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01989-1",
            "uniprot_ac": "Q01989",
            "uniprot_id": "MYS9_DROME",
            "refseq_ac": "NP_001014647",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin heavy chain 95F",
                    "type": "recommended"
                },
                {
                    "name": "95F MHC",
                    "type": "synonym"
                },
                {
                    "name": "95F myosin",
                    "type": "synonym"
                },
                {
                    "name": "95F unconventional myosin",
                    "type": "synonym"
                },
                {
                    "name": "CG5695-PK",
                    "type": "synonym"
                },
                {
                    "name": "Protein jaguar",
                    "type": "synonym"
                },
                {
                    "name": "jaguar, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "jaguar",
                    "type": "synonym"
                },
                {
                    "name": "jar-PK",
                    "type": "synonym"
                },
                {
                    "name": "myosin 95F",
                    "type": "synonym"
                },
                {
                    "name": "myosin VI",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain at 95F",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin-VI",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "jar",
                    "type": "recommended"
                },
                {
                    "name": "95F MHC",
                    "type": "synonym"
                },
                {
                    "name": "95F",
                    "type": "synonym"
                },
                {
                    "name": "CG5695",
                    "type": "synonym"
                },
                {
                    "name": "Dm 95F",
                    "type": "synonym"
                },
                {
                    "name": "Dm95F",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5695",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5695",
                    "type": "synonym"
                },
                {
                    "name": "Dro95F",
                    "type": "synonym"
                },
                {
                    "name": "JAG",
                    "type": "synonym"
                },
                {
                    "name": "Jaguar",
                    "type": "synonym"
                },
                {
                    "name": "Jar",
                    "type": "synonym"
                },
                {
                    "name": "M6",
                    "type": "synonym"
                },
                {
                    "name": "MHC95F",
                    "type": "synonym"
                },
                {
                    "name": "MYOVI",
                    "type": "synonym"
                },
                {
                    "name": "Mhc95F",
                    "type": "synonym"
                },
                {
                    "name": "Myo1A",
                    "type": "synonym"
                },
                {
                    "name": "MyoVI",
                    "type": "synonym"
                },
                {
                    "name": "Myosin VI",
                    "type": "synonym"
                },
                {
                    "name": "dMyo6",
                    "type": "synonym"
                },
                {
                    "name": "dMyoVI",
                    "type": "synonym"
                },
                {
                    "name": "jag",
                    "type": "synonym"
                },
                {
                    "name": "jar",
                    "type": "synonym"
                },
                {
                    "name": "ms(3)06746",
                    "type": "synonym"
                },
                {
                    "name": "myo VI",
                    "type": "synonym"
                },
                {
                    "name": "myo6",
                    "type": "synonym"
                },
                {
                    "name": "myoVI",
                    "type": "synonym"
                },
                {
                    "name": "myosins VI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01989-1",
            "evidence": [
                {
                    "id": "0110552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110552"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110552"
}