{
    "disease_id": "DOID:0070655",
    "recommended_name": {
        "id": "DOID:0070655",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070655",
        "name": "Usher syndrome type 1B",
        "description": "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070655",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070655",
            "name": "USH1B",
            "description": ""
        },
        {
            "id": "DOID:0070655",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070655",
            "name": "Usher syndrome type IB",
            "description": ""
        },
        {
            "id": "MONDO:0700087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700087",
            "name": "Usher syndrome type 1B",
            "description": "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene"
        },
        {
            "id": "MONDO:0700087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700087",
            "name": "Usher syndrome, type 1B",
            "description": ""
        },
        {
            "id": "MIM:276900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/276900",
            "name": "Usher syndrome 1B",
            "description": "Usher syndrome 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070655"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070655",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070655",
            "categories": []
        },
        {
            "id": "MONDO:0700087",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700087",
            "categories": []
        },
        {
            "id": "MIM:276900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/276900",
            "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": "0070655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070655"
                }
            ]
        },
        {
            "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": "0070655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96QU1-1",
            "uniprot_ac": "Q96QU1",
            "uniprot_id": "PCD15_HUMAN",
            "refseq_ac": "NP_149045",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-15",
                    "type": "recommended"
                },
                {
                    "name": "cadherin-related family member 15",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-15 isoform CD1-4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCDH15",
                    "type": "recommended"
                },
                {
                    "name": "CDHR15",
                    "type": "synonym"
                },
                {
                    "name": "DFNB23",
                    "type": "synonym"
                },
                {
                    "name": "PCDH15",
                    "type": "synonym"
                },
                {
                    "name": "USH1F",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96QU1-1",
            "evidence": [
                {
                    "id": "276900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276900"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q495M9-1",
            "uniprot_ac": "Q495M9",
            "uniprot_id": "USH1G_HUMAN",
            "refseq_ac": "NP_001269418",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "pre-mRNA splicing regulator USH1G",
                    "type": "recommended"
                },
                {
                    "name": "Scaffold protein containing ankyrin repeats and SAM domain",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome 1G (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-1G protein",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA splicing regulator USH1G isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA splicing regulator USH1G",
                    "type": "synonym"
                },
                {
                    "name": "scaffold protein containing ankyrin repeats and SAM domain",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-1G protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USH1G",
                    "type": "recommended"
                },
                {
                    "name": "ANKS4A",
                    "type": "synonym"
                },
                {
                    "name": "SANS",
                    "type": "synonym"
                },
                {
                    "name": "USH1G",
                    "type": "synonym"
                }
            ],
            "record_id": "Q495M9-1",
            "evidence": [
                {
                    "id": "276900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276900"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6N9-1",
            "uniprot_ac": "Q9Y6N9",
            "uniprot_id": "USH1C_HUMAN",
            "refseq_ac": "NP_001284693",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Harmonin",
                    "type": "recommended"
                },
                {
                    "name": "Antigen NY-CO-38/NY-CO-37",
                    "type": "synonym"
                },
                {
                    "name": "Autoimmune enteropathy-related antigen AIE-75",
                    "type": "synonym"
                },
                {
                    "name": "Protein PDZ-73",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-3",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome 1C (autosomal recessive, severe)",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-1C protein",
                    "type": "synonym"
                },
                {
                    "name": "antigen NY-CO-38/NY-CO-37",
                    "type": "synonym"
                },
                {
                    "name": "autoimmune enteropathy-related antigen AIE-75",
                    "type": "synonym"
                },
                {
                    "name": "harmonin isoform c",
                    "type": "synonym"
                },
                {
                    "name": "harmonin",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-3",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-1C protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USH1C",
                    "type": "recommended"
                },
                {
                    "name": "AIE-75",
                    "type": "synonym"
                },
                {
                    "name": "AIE75",
                    "type": "synonym"
                },
                {
                    "name": "DFNB18A",
                    "type": "synonym"
                },
                {
                    "name": "DFNB18",
                    "type": "synonym"
                },
                {
                    "name": "NY-CO-37",
                    "type": "synonym"
                },
                {
                    "name": "NY-CO-38",
                    "type": "synonym"
                },
                {
                    "name": "PDZ-45",
                    "type": "synonym"
                },
                {
                    "name": "PDZ-73/NY-CO-38",
                    "type": "synonym"
                },
                {
                    "name": "PDZ-73",
                    "type": "synonym"
                },
                {
                    "name": "PDZ73",
                    "type": "synonym"
                },
                {
                    "name": "PDZD7C",
                    "type": "synonym"
                },
                {
                    "name": "USH1C",
                    "type": "synonym"
                },
                {
                    "name": "ush1cpst",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6N9-1",
            "evidence": [
                {
                    "id": "276900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276900"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "276900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276900"
                },
                {
                    "id": "0070655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H251-1",
            "uniprot_ac": "Q9H251",
            "uniprot_id": "CAD23_HUMAN",
            "refseq_ac": "NP_001165401",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-23",
                    "type": "recommended"
                },
                {
                    "name": "Otocadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-23 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-like 23",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-related family member 23",
                    "type": "synonym"
                },
                {
                    "name": "otocadherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDH23",
                    "type": "recommended"
                },
                {
                    "name": "CDH23",
                    "type": "synonym"
                },
                {
                    "name": "CDHR23",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1774",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1812",
                    "type": "synonym"
                },
                {
                    "name": "PITA5",
                    "type": "synonym"
                },
                {
                    "name": "PRO4340",
                    "type": "synonym"
                },
                {
                    "name": "USH1D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H251-1",
            "evidence": [
                {
                    "id": "276900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276900"
                }
            ]
        },
        {
            "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": "0070655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070655"
                }
            ]
        },
        {
            "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": "0070655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070655"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070655"
}