{
    "disease_id": "DOID:0110477",
    "recommended_name": {
        "id": "DOID:0110477",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110477",
        "name": "autosomal recessive nonsyndromic deafness 2",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110477",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110477",
            "name": "DFNB2",
            "description": ""
        },
        {
            "id": "DOID:0110477",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110477",
            "name": "autosomal recessive deafness 2",
            "description": ""
        },
        {
            "id": "MONDO:0010807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "name": "autosomal recessive nonsyndromic hearing loss 2",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene."
        },
        {
            "id": "MONDO:0010807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "name": "DFNB2",
            "description": ""
        },
        {
            "id": "MONDO:0010807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "name": "MYO7A autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "name": "autosomal recessive deafness 2",
            "description": ""
        },
        {
            "id": "MONDO:0010807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "name": "autosomal recessive nonsyndromic deafness 2",
            "description": ""
        },
        {
            "id": "MONDO:0010807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in MYO7A",
            "description": ""
        },
        {
            "id": "MONDO:0010807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "name": "autosomal recessive nonsyndromic deafness type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "name": "deafness, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0010807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "name": "deafness, autosomal recessive type 2",
            "description": ""
        },
        {
            "id": "MIM:600060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600060",
            "name": "Deafness, autosomal recessive, 2",
            "description": "Deafness, autosomal recessive, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110477"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110477",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110477",
            "categories": []
        },
        {
            "id": "MONDO:0010807",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010807",
            "categories": []
        },
        {
            "id": "MIM:600060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IAZ3-1",
            "uniprot_ac": "A0AC58IAZ3",
            "uniprot_id": "A0AC58IAZ3_DANRE",
            "refseq_ac": "XP_073791404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-VIIa isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VIIa isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myo7ab",
                    "type": "recommended"
                },
                {
                    "name": "myo7ab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IAZ3-1",
            "evidence": [
                {
                    "id": "0110477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97479-1",
            "uniprot_ac": "P97479",
            "uniprot_id": "MYO7A_MOUSE",
            "refseq_ac": "NP_001243010",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-VIIa",
                    "type": "recommended"
                },
                {
                    "name": "motor protein",
                    "type": "synonym"
                },
                {
                    "name": "myosin 7A",
                    "type": "synonym"
                },
                {
                    "name": "myosin-VIIa",
                    "type": "synonym"
                },
                {
                    "name": "shaker 1",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VIIa isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VIIa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo7a",
                    "type": "recommended"
                },
                {
                    "name": "Hdb",
                    "type": "synonym"
                },
                {
                    "name": "Myo7a",
                    "type": "synonym"
                },
                {
                    "name": "Myo7",
                    "type": "synonym"
                },
                {
                    "name": "USH1B",
                    "type": "synonym"
                },
                {
                    "name": "nmf371",
                    "type": "synonym"
                },
                {
                    "name": "polka",
                    "type": "synonym"
                },
                {
                    "name": "sh-1",
                    "type": "synonym"
                },
                {
                    "name": "sh1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97479-1",
            "evidence": [
                {
                    "id": "0110477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13402-1",
            "uniprot_ac": "Q13402",
            "uniprot_id": "MYO7A_HUMAN",
            "refseq_ac": "NP_000251",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-VIIa",
                    "type": "recommended"
                },
                {
                    "name": "myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VIIa isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VIIa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO7A",
                    "type": "recommended"
                },
                {
                    "name": "DFNA11",
                    "type": "synonym"
                },
                {
                    "name": "DFNB2",
                    "type": "synonym"
                },
                {
                    "name": "MYO7A",
                    "type": "synonym"
                },
                {
                    "name": "MYOVIIA",
                    "type": "synonym"
                },
                {
                    "name": "MYU7A",
                    "type": "synonym"
                },
                {
                    "name": "NSRD2",
                    "type": "synonym"
                },
                {
                    "name": "USH1B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13402-1",
            "evidence": [
                {
                    "id": "600060",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600060"
                },
                {
                    "id": "0110477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8XYU9-1",
            "uniprot_ac": "A0A8J8XYU9",
            "uniprot_id": "A0A8J8XYU9_RAT",
            "refseq_ac": "XP_006229806",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin VIIA",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-VIIa isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo7a",
                    "type": "recommended"
                },
                {
                    "name": "Myo7a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8J8XYU9-1",
            "evidence": [
                {
                    "id": "0110477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3Z6-1",
            "uniprot_ac": "Q9V3Z6",
            "uniprot_id": "MYO7A_DROME",
            "refseq_ac": "NP_001285949",
            "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-VIIa",
                    "type": "recommended"
                },
                {
                    "name": "CG7595-PC",
                    "type": "synonym"
                },
                {
                    "name": "DmVIIa",
                    "type": "synonym"
                },
                {
                    "name": "Protein crinkled",
                    "type": "synonym"
                },
                {
                    "name": "ck-PC",
                    "type": "synonym"
                },
                {
                    "name": "crinkled, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "crinkled",
                    "type": "synonym"
                },
                {
                    "name": "lethal 27 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal group D2",
                    "type": "synonym"
                },
                {
                    "name": "myosin 7a heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin 7a",
                    "type": "synonym"
                },
                {
                    "name": "myosin VIIa",
                    "type": "synonym"
                },
                {
                    "name": "myosin VII",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain at 35BC",
                    "type": "synonym"
                },
                {
                    "name": "myosin-7a",
                    "type": "synonym"
                },
                {
                    "name": "myosin-VII",
                    "type": "synonym"
                },
                {
                    "name": "mysoin VIIa",
                    "type": "synonym"
                },
                {
                    "name": "stubby chaetae",
                    "type": "synonym"
                },
                {
                    "name": "transcription unit D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ck",
                    "type": "recommended"
                },
                {
                    "name": "53D10S",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS00929.11",
                    "type": "synonym"
                },
                {
                    "name": "CG7595",
                    "type": "synonym"
                },
                {
                    "name": "CK",
                    "type": "synonym"
                },
                {
                    "name": "D2",
                    "type": "synonym"
                },
                {
                    "name": "DM7a",
                    "type": "synonym"
                },
                {
                    "name": "DMyoVIIa",
                    "type": "synonym"
                },
                {
                    "name": "Dm 35B",
                    "type": "synonym"
                },
                {
                    "name": "DmVIIA",
                    "type": "synonym"
                },
                {
                    "name": "DmVIIa",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7595",
                    "type": "synonym"
                },
                {
                    "name": "Dro35B",
                    "type": "synonym"
                },
                {
                    "name": "D",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:53D10S",
                    "type": "synonym"
                },
                {
                    "name": "Mhc35BC",
                    "type": "synonym"
                },
                {
                    "name": "Myo7A",
                    "type": "synonym"
                },
                {
                    "name": "Myo7B",
                    "type": "synonym"
                },
                {
                    "name": "MyoVIIA",
                    "type": "synonym"
                },
                {
                    "name": "anon-35Bb",
                    "type": "synonym"
                },
                {
                    "name": "br27",
                    "type": "synonym"
                },
                {
                    "name": "ck/MyoVIIA",
                    "type": "synonym"
                },
                {
                    "name": "ck",
                    "type": "synonym"
                },
                {
                    "name": "l(1)35Ca",
                    "type": "synonym"
                },
                {
                    "name": "l(2)07130",
                    "type": "synonym"
                },
                {
                    "name": "l(2)35Ca",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br27",
                    "type": "synonym"
                },
                {
                    "name": "l35Ca",
                    "type": "synonym"
                },
                {
                    "name": "myoVIIA",
                    "type": "synonym"
                },
                {
                    "name": "myoVIIa",
                    "type": "synonym"
                },
                {
                    "name": "myosin-7a",
                    "type": "synonym"
                },
                {
                    "name": "stch",
                    "type": "synonym"
                },
                {
                    "name": "stc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3Z6-1",
            "evidence": [
                {
                    "id": "0110477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110477"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110477"
}