{
    "disease_id": "DOID:0050439",
    "recommended_name": {
        "id": "DOID:0050439",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050439",
        "name": "Usher syndrome",
        "description": "A syndrome characterized by a combination of hearing loss and visual impairment."
    },
    "synonyms": [
        {
            "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": "DOID:0110826",
            "label": "Usher syndrome type 1",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0070655",
                    "label": "Usher syndrome type 1B",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110830",
                    "label": "Usher syndrome type 1C",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110831",
                    "label": "Usher syndrome type 1D",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110832",
                    "label": "Usher syndrome type 1F",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110834",
                    "label": "Usher syndrome type 1G",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0110827",
            "label": "Usher syndrome type 2",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0110838",
                    "label": "Usher syndrome type 2A",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110839",
                    "label": "Usher syndrome type 2C",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110840",
                    "label": "Usher syndrome type 2D",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0110828",
            "label": "Usher syndrome type 3",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0110841",
                    "label": "Usher syndrome type 3A",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110842",
                    "label": "Usher syndrome type 3B",
                    "link_status": true,
                    "children": []
                }
            ]
        }
    ],
    "id_list": [
        "DOID:0110841",
        "DOID:0110840",
        "DOID:0110831",
        "DOID:0070655",
        "DOID:0110842",
        "DOID:0110838",
        "DOID:0110834",
        "DOID:0050439",
        "DOID:0110839",
        "DOID:0110832",
        "DOID:0110827",
        "DOID:0110830",
        "DOID:0110826",
        "DOID:0110828"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050439",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050439",
            "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": "A0A8M3ARH7-1",
            "uniprot_ac": "A0A8M3ARH7",
            "uniprot_id": "A0A8M3ARH7_DANRE",
            "refseq_ac": "XP_073784725",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Usherin",
                    "type": "synonym"
                },
                {
                    "name": "usherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ush2a",
                    "type": "recommended"
                },
                {
                    "name": "ush2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ARH7-1",
            "evidence": [
                {
                    "id": "0050439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TYD4-1",
            "uniprot_ac": "Q3TYD4",
            "uniprot_id": "ARSG_MOUSE",
            "refseq_ac": "NP_001159649",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arylsulfatase G",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.15",
                    "type": "synonym"
                },
                {
                    "name": "3.1.6.1",
                    "type": "synonym"
                },
                {
                    "name": "ASG",
                    "type": "synonym"
                },
                {
                    "name": "N-sulfoglucosamine-3-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "arylsulfatase G isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arsg",
                    "type": "recommended"
                },
                {
                    "name": "6330406P08Rik",
                    "type": "synonym"
                },
                {
                    "name": "ASG",
                    "type": "synonym"
                },
                {
                    "name": "Arsg",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1001",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TYD4-1",
            "evidence": [
                {
                    "id": "0050439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2QI47-1",
            "uniprot_ac": "Q2QI47",
            "uniprot_id": "USH2A_MOUSE",
            "refseq_ac": "NP_067383",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Usherin",
                    "type": "recommended"
                },
                {
                    "name": "Usher syndrome 2A (autosomal recessive, mild) homolog",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type IIa protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-2A protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type IIa protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-2A protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "usherin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ush2A",
                    "type": "recommended"
                },
                {
                    "name": "Ush2a",
                    "type": "recommended"
                },
                {
                    "name": "A930011D15Rik",
                    "type": "synonym"
                },
                {
                    "name": "A930037M10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm676",
                    "type": "synonym"
                },
                {
                    "name": "Gm983",
                    "type": "synonym"
                },
                {
                    "name": "Mush2a",
                    "type": "synonym"
                },
                {
                    "name": "Ush2a",
                    "type": "synonym"
                },
                {
                    "name": "Ushrn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2QI47-1",
            "evidence": [
                {
                    "id": "0050439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ES64-1",
            "uniprot_ac": "Q9ES64",
            "uniprot_id": "USH1C_MOUSE",
            "refseq_ac": "NP_001157205",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Harmonin",
                    "type": "recommended"
                },
                {
                    "name": "PDZ domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome 1C homolog",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-1C protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "harmonin isoform b4",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-1C protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ush1c",
                    "type": "recommended"
                },
                {
                    "name": "2010016F01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ush1c",
                    "type": "synonym"
                },
                {
                    "name": "harmonin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ES64-1",
            "evidence": [
                {
                    "id": "0050439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K445-1",
            "uniprot_ac": "Q8K445",
            "uniprot_id": "CLRN1_MOUSE",
            "refseq_ac": "NP_700433",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clarin-1",
                    "type": "recommended"
                },
                {
                    "name": "Usher syndrome 3A homolog",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-3 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "clarin-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-3 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clrn1",
                    "type": "recommended"
                },
                {
                    "name": "A130002D11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Clrn1",
                    "type": "synonym"
                },
                {
                    "name": "USH3",
                    "type": "synonym"
                },
                {
                    "name": "Ush3a",
                    "type": "synonym"
                },
                {
                    "name": "clarin-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K445-1",
            "evidence": [
                {
                    "id": "0050439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050439"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0050439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050439"
                }
            ]
        },
        {
            "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": "276900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/276900"
                }
            ]
        },
        {
            "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"
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                {
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}