{
    "disease_id": "DOID:0110548",
    "recommended_name": {
        "id": "DOID:0110548",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110548",
        "name": "autosomal dominant nonsyndromic deafness 17",
        "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 MYH9 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110548",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110548",
            "name": "DFNA17",
            "description": ""
        },
        {
            "id": "DOID:0110548",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110548",
            "name": "autosomal dominant deafness 17",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "autosomal dominant nonsyndromic hearing loss 17",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene."
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "DFNA17",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "MYH9 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "autosomal dominant deafness 17",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "autosomal dominant nonsyndromic deafness 17",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in MYH9",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "autosomal dominant nonsyndromic deafness type 17",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "deafness, autosomal dominant 17",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "deafness, autosomal dominant nonsyndromic sensorineural 17",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "deafness, autosomal dominant type 17",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "nonsyndromic hereditary deafness DFNA17",
            "description": ""
        },
        {
            "id": "MONDO:0011350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "name": "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration",
            "description": ""
        },
        {
            "id": "MIM:603622",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603622",
            "name": "Deafness, autosomal dominant, 17",
            "description": "Deafness, autosomal dominant, 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110548"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110548",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110548",
            "categories": []
        },
        {
            "id": "MONDO:0011350",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011350",
            "categories": []
        },
        {
            "id": "MIM:603622",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603622",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NEM1-1",
            "uniprot_ac": "A0A8M1NEM1",
            "uniprot_id": "A0A8M1NEM1_DANRE",
            "refseq_ac": "NP_001091647",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-9",
                    "type": "recommended"
                },
                {
                    "name": "Myosin heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, non-muscle IIa",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle myosin heavy chain IIa",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain IX",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy chain 9, non-muscle, like-2",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 9, non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 9a, non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin-9a",
                    "type": "synonym"
                },
                {
                    "name": "zNMHC-IIA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myh9a",
                    "type": "recommended"
                },
                {
                    "name": "fi22c04",
                    "type": "synonym"
                },
                {
                    "name": "fj85e11",
                    "type": "synonym"
                },
                {
                    "name": "myh9a",
                    "type": "synonym"
                },
                {
                    "name": "myh9l2",
                    "type": "synonym"
                },
                {
                    "name": "myh9",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi22c04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj85e11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162029",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66164",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NEM1-1",
            "evidence": [
                {
                    "id": "0110548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDD5-1",
            "uniprot_ac": "Q8VDD5",
            "uniprot_id": "MYH9_MOUSE",
            "refseq_ac": "NP_071855",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-9",
                    "type": "recommended"
                },
                {
                    "name": "Cellular myosin heavy chain, type A",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, non-muscle IIa",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC II-a",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC-A",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC-IIA",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle myosin heavy chain A",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle myosin heavy chain IIa",
                    "type": "synonym"
                },
                {
                    "name": "cellular myosin heavy chain, type A",
                    "type": "synonym"
                },
                {
                    "name": "flectin",
                    "type": "synonym"
                },
                {
                    "name": "myosin IIA",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain IX",
                    "type": "synonym"
                },
                {
                    "name": "myosin-9",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin heavy chain IIa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh9",
                    "type": "recommended"
                },
                {
                    "name": "Fltn",
                    "type": "synonym"
                },
                {
                    "name": "Myh9",
                    "type": "synonym"
                },
                {
                    "name": "Myhn-1",
                    "type": "synonym"
                },
                {
                    "name": "Myhn1",
                    "type": "synonym"
                },
                {
                    "name": "NMHC II-A",
                    "type": "synonym"
                },
                {
                    "name": "NMHCIIA",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC-A",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC-IIA",
                    "type": "synonym"
                },
                {
                    "name": "TU72.6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDD5-1",
            "evidence": [
                {
                    "id": "0110548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35579-1",
            "uniprot_ac": "P35579",
            "uniprot_id": "MYH9_HUMAN",
            "refseq_ac": "NP_002464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-9",
                    "type": "recommended"
                },
                {
                    "name": "Cellular myosin heavy chain, type A",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, non-muscle IIa",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC II-a",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC-A",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC-IIA",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle myosin heavy chain A",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle myosin heavy chain IIa",
                    "type": "synonym"
                },
                {
                    "name": "cellular myosin heavy chain, type A",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy chain 9, non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin-9",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin heavy chain A",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin heavy chain IIa",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin heavy polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "nonmuscle myosin IIA2",
                    "type": "synonym"
                },
                {
                    "name": "nonmuscle myosin heavy chain II-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYH9",
                    "type": "recommended"
                },
                {
                    "name": "BDPLT6",
                    "type": "synonym"
                },
                {
                    "name": "DFNA17",
                    "type": "synonym"
                },
                {
                    "name": "EPSTS",
                    "type": "synonym"
                },
                {
                    "name": "FTNS",
                    "type": "synonym"
                },
                {
                    "name": "MATINS",
                    "type": "synonym"
                },
                {
                    "name": "MHA",
                    "type": "synonym"
                },
                {
                    "name": "MYH9",
                    "type": "synonym"
                },
                {
                    "name": "NMHC-II-A",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC-IIA",
                    "type": "synonym"
                },
                {
                    "name": "NMMHCA",
                    "type": "synonym"
                }
            ],
            "record_id": "P35579-1",
            "evidence": [
                {
                    "id": "603622",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603622"
                },
                {
                    "id": "0110548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08964-1",
            "uniprot_ac": "P08964",
            "uniprot_id": "MYO1_YEAST",
            "refseq_ac": "NP_011888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-1",
                    "type": "recommended"
                },
                {
                    "name": "Type II myosin",
                    "type": "synonym"
                },
                {
                    "name": "myosin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO1",
                    "type": "recommended"
                },
                {
                    "name": "MYO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08964-1",
            "evidence": [
                {
                    "id": "0110548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62812-1",
            "uniprot_ac": "Q62812",
            "uniprot_id": "MYH9_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-9",
                    "type": "recommended"
                },
                {
                    "name": "Cellular myosin heavy chain, type A",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, non-muscle IIa",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC II-a",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC-A",
                    "type": "synonym"
                },
                {
                    "name": "NMMHC-IIA",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle myosin heavy chain A",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle myosin heavy chain IIa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh9",
                    "type": "recommended"
                }
            ],
            "record_id": "Q62812-1",
            "evidence": [
                {
                    "id": "0110548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110548"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99323-3",
            "uniprot_ac": "Q99323",
            "uniprot_id": "MYSN_DROME",
            "refseq_ac": "NP_523860",
            "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, non-muscle",
                    "type": "recommended"
                },
                {
                    "name": "CG15792-PA",
                    "type": "synonym"
                },
                {
                    "name": "MyoII heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "Myosin II",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle MHC",
                    "type": "synonym"
                },
                {
                    "name": "Protein zipper",
                    "type": "synonym"
                },
                {
                    "name": "actomyosin",
                    "type": "synonym"
                },
                {
                    "name": "celibe",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic myosin II",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of broad",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 17F1",
                    "type": "synonym"
                },
                {
                    "name": "myo-II heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin HC",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain-cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin-heavy-chain-cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "myosins II",
                    "type": "synonym"
                },
                {
                    "name": "non muscle myosin",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin II heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin II",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin heavy-chain",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "nonmuscle MyoII",
                    "type": "synonym"
                },
                {
                    "name": "nonmuscle myosin II heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "nonmuscle myosin II heavychain",
                    "type": "synonym"
                },
                {
                    "name": "nonmuscle myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "nonmuscle myosin-II heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "nonmuscle myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "zip-PA",
                    "type": "synonym"
                },
                {
                    "name": "zipper heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "zipper, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zip",
                    "type": "recommended"
                },
                {
                    "name": "CG15792",
                    "type": "synonym"
                },
                {
                    "name": "DROMHC",
                    "type": "synonym"
                },
                {
                    "name": "Dm nmII",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15792",
                    "type": "synonym"
                },
                {
                    "name": "DmnmII",
                    "type": "synonym"
                },
                {
                    "name": "Dronm-MII",
                    "type": "synonym"
                },
                {
                    "name": "E(br)",
                    "type": "synonym"
                },
                {
                    "name": "MHC",
                    "type": "synonym"
                },
                {
                    "name": "Mhc-c[1]",
                    "type": "synonym"
                },
                {
                    "name": "Mhc-c",
                    "type": "synonym"
                },
                {
                    "name": "Myo II",
                    "type": "synonym"
                },
                {
                    "name": "Myo-II HC",
                    "type": "synonym"
                },
                {
                    "name": "Myo-II",
                    "type": "synonym"
                },
                {
                    "name": "Myo15",
                    "type": "synonym"
                },
                {
                    "name": "Myo2",
                    "type": "synonym"
                },
                {
                    "name": "MyoII",
                    "type": "synonym"
                },
                {
                    "name": "Myosin II",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "Myo",
                    "type": "synonym"
                },
                {
                    "name": "NMII",
                    "type": "synonym"
                },
                {
                    "name": "NMMII",
                    "type": "synonym"
                },
                {
                    "name": "NMM",
                    "type": "synonym"
                },
                {
                    "name": "ZIP",
                    "type": "synonym"
                },
                {
                    "name": "Zip",
                    "type": "synonym"
                },
                {
                    "name": "actomyosin",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.37",
                    "type": "synonym"
                },
                {
                    "name": "cbe",
                    "type": "synonym"
                },
                {
                    "name": "l(2)02957",
                    "type": "synonym"
                },
                {
                    "name": "l(2)17F1",
                    "type": "synonym"
                },
                {
                    "name": "myo II",
                    "type": "synonym"
                },
                {
                    "name": "myoII",
                    "type": "synonym"
                },
                {
                    "name": "myosin II",
                    "type": "synonym"
                },
                {
                    "name": "myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "nmMHC",
                    "type": "synonym"
                },
                {
                    "name": "nmy-2",
                    "type": "synonym"
                },
                {
                    "name": "zip/MyoII",
                    "type": "synonym"
                },
                {
                    "name": "zip",
                    "type": "synonym"
                },
                {
                    "name": "zpr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99323-3",
            "evidence": [
                {
                    "id": "0110548",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110548"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110548"
}