{
    "disease_id": "DOID:0110488",
    "recommended_name": {
        "id": "DOID:0110488",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110488",
        "name": "autosomal recessive nonsyndromic deafness 3",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110488",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110488",
            "name": "DFNB3",
            "description": ""
        },
        {
            "id": "DOID:0110488",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110488",
            "name": "NRSD3",
            "description": ""
        },
        {
            "id": "DOID:0110488",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110488",
            "name": "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "autosomal recessive nonsyndromic hearing loss 3",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene."
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "autosomal recessive nonsyndromic hearing loss 3",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "DFNB3",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "MYO15A autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "NRSD3",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "autosomal recessive nonsyndromic deafness 3",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in MYO15A",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "autosomal recessive nonsyndromic deafness type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "deafness, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "deafness, autosomal recessive type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "name": "neurosensory nonsyndromic recessive deafness 3",
            "description": ""
        },
        {
            "id": "MIM:600316",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600316",
            "name": "Deafness, autosomal recessive, 3",
            "description": "Deafness, autosomal recessive, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110488"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110488",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110488",
            "categories": []
        },
        {
            "id": "MONDO:0010860",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010860",
            "categories": []
        },
        {
            "id": "MIM:600316",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600316",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QZZ4-1",
            "uniprot_ac": "Q9QZZ4",
            "uniprot_id": "MYO15_MOUSE",
            "refseq_ac": "NP_001096641",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-XV",
                    "type": "recommended"
                },
                {
                    "name": "Unconventional myosin-15",
                    "type": "synonym"
                },
                {
                    "name": "shaker 2",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-15",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XV isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo15a",
                    "type": "recommended"
                },
                {
                    "name": "Myo15a",
                    "type": "synonym"
                },
                {
                    "name": "Myo15",
                    "type": "synonym"
                },
                {
                    "name": "sh-2",
                    "type": "synonym"
                },
                {
                    "name": "sh2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZZ4-1",
            "evidence": [
                {
                    "id": "0110488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UKN7-1",
            "uniprot_ac": "Q9UKN7",
            "uniprot_id": "MYO15_HUMAN",
            "refseq_ac": "NP_057323",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-XV",
                    "type": "recommended"
                },
                {
                    "name": "Unconventional myosin-15",
                    "type": "synonym"
                },
                {
                    "name": "myosin-XV",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-15",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO15A",
                    "type": "recommended"
                },
                {
                    "name": "DFNB3",
                    "type": "synonym"
                },
                {
                    "name": "MYO15A",
                    "type": "synonym"
                },
                {
                    "name": "MYO15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKN7-1",
            "evidence": [
                {
                    "id": "600316",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600316"
                },
                {
                    "id": "0110488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K1F7-1",
            "uniprot_ac": "A0A0G2K1F7",
            "uniprot_id": "A0A0G2K1F7_RAT",
            "refseq_ac": "NP_001414755",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-XV",
                    "type": "recommended"
                },
                {
                    "name": "Unconventional myosin-15",
                    "type": "synonym"
                },
                {
                    "name": "myosin XV",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XV-like",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo15a",
                    "type": "recommended"
                },
                {
                    "name": "Myo15a",
                    "type": "synonym"
                },
                {
                    "name": "Myo15",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561873",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K1F7-1",
            "evidence": [
                {
                    "id": "0110488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KHU0-1",
            "uniprot_ac": "Q0KHU0",
            "uniprot_id": "Q0KHU0_DROME",
            "refseq_ac": "NP_001036269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "5.6.1.8",
                    "type": "synonym"
                },
                {
                    "name": "CG43657-PD",
                    "type": "synonym"
                },
                {
                    "name": "Myo10A-PD",
                    "type": "synonym"
                },
                {
                    "name": "Myosin 10A, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "myosin 10A, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "myosin XV",
                    "type": "synonym"
                },
                {
                    "name": "sisyphus",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin class XV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo10A",
                    "type": "recommended"
                },
                {
                    "name": "10A",
                    "type": "synonym"
                },
                {
                    "name": "AAF47980",
                    "type": "synonym"
                },
                {
                    "name": "CG16922",
                    "type": "synonym"
                },
                {
                    "name": "CG2136",
                    "type": "synonym"
                },
                {
                    "name": "CG2174",
                    "type": "synonym"
                },
                {
                    "name": "CG43657",
                    "type": "synonym"
                },
                {
                    "name": "DmXV",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43657",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43657",
                    "type": "synonym"
                },
                {
                    "name": "Myo10A",
                    "type": "synonym"
                },
                {
                    "name": "Myo20",
                    "type": "synonym"
                },
                {
                    "name": "Syph",
                    "type": "synonym"
                },
                {
                    "name": "myo10A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KHU0-1",
            "evidence": [
                {
                    "id": "0110488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110488"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110488"
}
