{
    "disease_id": "DOID:0110834",
    "recommended_name": {
        "id": "DOID:0110834",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110834",
        "name": "Usher syndrome type 1G",
        "description": "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110834",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110834",
            "name": "USH1G",
            "description": ""
        },
        {
            "id": "DOID:0110834",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110834",
            "name": "Usher syndrome type IG",
            "description": ""
        },
        {
            "id": "MONDO:0011748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011748",
            "name": "Usher syndrome type 1G",
            "description": "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene."
        },
        {
            "id": "MONDO:0011748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011748",
            "name": "USH1G",
            "description": ""
        },
        {
            "id": "MONDO:0011748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011748",
            "name": "USH1G Usher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011748",
            "name": "Usher syndrome caused by mutation in USH1G",
            "description": ""
        },
        {
            "id": "MONDO:0011748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011748",
            "name": "Usher syndrome type 1G",
            "description": ""
        },
        {
            "id": "MONDO:0011748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011748",
            "name": "USHER syndrome, type Ig",
            "description": ""
        },
        {
            "id": "MIM:606943",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606943",
            "name": "Usher syndrome 1G",
            "description": "Usher syndrome 1G"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110834"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110834",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110834",
            "categories": []
        },
        {
            "id": "MONDO:0011748",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011748",
            "categories": []
        },
        {
            "id": "MIM:606943",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606943",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7T6J6-1",
            "uniprot_ac": "A0A8N7T6J6",
            "uniprot_id": "A0A8N7T6J6_DANRE",
            "refseq_ac": "XP_685232",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA splicing regulator USH1G",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA splicing regulator USH1G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ush1gb",
                    "type": "recommended"
                },
                {
                    "name": "ush1gb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7T6J6-1",
            "evidence": [
                {
                    "id": "0110834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1RQW2-1",
            "uniprot_ac": "A0A8M1RQW2",
            "uniprot_id": "A0A8M1RQW2_DANRE",
            "refseq_ac": "XP_002661315",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA splicing regulator USH1G",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA splicing regulator USH1G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ush1ga",
                    "type": "recommended"
                },
                {
                    "name": "ush1ga",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RQW2-1",
            "evidence": [
                {
                    "id": "0110834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80T11-1",
            "uniprot_ac": "Q80T11",
            "uniprot_id": "USH1G_MOUSE",
            "refseq_ac": "NP_789817",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "pre-mRNA splicing regulator USH1G",
                    "type": "recommended"
                },
                {
                    "name": "Jackson shaker protein",
                    "type": "synonym"
                },
                {
                    "name": "Scaffold protein containing ankyrin repeats and SAM domain",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome 1G homolog",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-1G protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "jackson shaker protein",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA splicing regulator USH1G",
                    "type": "synonym"
                },
                {
                    "name": "scaffold protein containing ankyrin repeats and SAM domain",
                    "type": "synonym"
                },
                {
                    "name": "scaffold protein, amkyrin repeats and SAM domain containing",
                    "type": "synonym"
                },
                {
                    "name": "scaffold protein, ankyrin repeats and SAM domain containing",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-1G protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ush1g",
                    "type": "recommended"
                },
                {
                    "name": "Sans",
                    "type": "synonym"
                },
                {
                    "name": "Ush1g",
                    "type": "synonym"
                },
                {
                    "name": "js",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80T11-1",
            "evidence": [
                {
                    "id": "0110834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110834"
                }
            ]
        },
        {
            "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": "606943",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606943"
                },
                {
                    "id": "0110834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTY5-1",
            "uniprot_ac": "D3ZTY5",
            "uniprot_id": "D3ZTY5_RAT",
            "refseq_ac": "NP_001099320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "USH1 protein network component sans",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome 1G (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome 1G homolog",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA splicing regulator USH1G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ush1g",
                    "type": "recommended"
                },
                {
                    "name": "Ush1g",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTY5-1",
            "evidence": [
                {
                    "id": "0110834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110834"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110834"
}