{
    "disease_id": "DOID:0110839",
    "recommended_name": {
        "id": "DOID:0110839",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110839",
        "name": "Usher syndrome type 2C",
        "description": "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110839",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110839",
            "name": "USH2C",
            "description": ""
        },
        {
            "id": "DOID:0110839",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110839",
            "name": "Usher syndrome type IIC",
            "description": ""
        },
        {
            "id": "DOID:0110839",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110839",
            "name": "Usher syndrome IIC",
            "description": ""
        },
        {
            "id": "MONDO:0011558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011558",
            "name": "Usher syndrome type 2C",
            "description": "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0011558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011558",
            "name": "USH2C",
            "description": ""
        },
        {
            "id": "MONDO:0011558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011558",
            "name": "Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant",
            "description": ""
        },
        {
            "id": "MONDO:0011558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011558",
            "name": "Usher syndrome, type 2C, autosomal recessive, digenic dominant",
            "description": ""
        },
        {
            "id": "MONDO:0011558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011558",
            "name": "Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant",
            "description": ""
        },
        {
            "id": "MONDO:0011558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011558",
            "name": "USHER syndrome, type IIC",
            "description": ""
        },
        {
            "id": "MONDO:0011558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011558",
            "name": "Usher syndrome, type 2C",
            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/605472",
            "name": "Usher syndrome 2C",
            "description": "Usher syndrome 2C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110839"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110839",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110839",
            "categories": []
        },
        {
            "id": "MONDO:0011558",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011558",
            "categories": []
        },
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            "id": "MIM:605472",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605472",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q6JAN0",
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            "refseq_ac": "",
            "glycoprotein": "yes",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "type": "synonym"
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                },
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                },
                {
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                    "name": "adgrv1",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                }
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                }
            ]
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                }
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                {
                    "name": "PDZ domain-containing protein 7 isoform X1",
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            ],
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                }
            ],
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                {
                    "name": "Anion exchange protein",
                    "type": "recommended"
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                {
                    "name": "sodium bicarbonate cotransporter 3 isoform X8",
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            ],
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                    "name": "slc4a7",
                    "type": "recommended"
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                    "type": "synonym"
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            ],
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                }
            ]
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            "uniprot_ac": "Q8VHN7",
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            "refseq_ac": "",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
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                }
            ],
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                    "type": "recommended"
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                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "ADGRV1",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 98",
                    "type": "synonym"
                },
                {
                    "name": "MASS1",
                    "type": "synonym"
                },
                {
                    "name": "Monogenic audiogenic seizure susceptibility protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Neurepin",
                    "type": "synonym"
                },
                {
                    "name": "Protein rueda",
                    "type": "synonym"
                },
                {
                    "name": "VLGR1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "VLGR1",
                    "type": "synonym"
                },
                {
                    "name": "Vbeta",
                    "type": "synonym"
                },
                {
                    "name": "Very large G protein-coupled receptor 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Adgrv1",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Kiaa0686",
                    "type": "synonym"
                },
                {
                    "name": "Mass1",
                    "type": "synonym"
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                    "type": "synonym"
                }
            ],
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                    "id": "0110839",
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            "uniprot_ac": "Q8BTY2",
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            "refseq_ac": "",
            "glycoprotein": "yes",
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                    "name": "Mus musculus",
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                }
            ],
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                    "name": "Sodium bicarbonate cotransporter 3",
                    "type": "recommended"
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                {
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                    "type": "synonym"
                }
            ],
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                    "name": "Slc4a7",
                    "type": "recommended"
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                {
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            ],
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                    "id": "0110839",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "PDZ domain-containing protein 7",
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                    "name": "PDZ domain-containing protein 7",
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            ],
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                    "name": "Pdzd7",
                    "type": "recommended"
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                {
                    "name": "9130207N01",
                    "type": "synonym"
                },
                {
                    "name": "EG435601",
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                    "name": "Pdzd7",
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                },
                {
                    "name": "Pdzk7",
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                    "id": "0110839",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                }
            ],
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                    "name": "3.4.-.-",
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                {
                    "name": "Very large G protein-coupled receptor 1",
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                {
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                {
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                    "name": "USH2C",
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                }
            ],
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                    "id": "0110839",
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                }
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                }
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                    "id": "0110839",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "id": "0110839",
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                    "name": "Adhesion G-protein coupled receptor V1",
                    "type": "recommended"
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                    "name": "G-protein coupled receptor 98",
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                {
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                    "id": "0110839",
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                    "id": "0110839",
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            "uniprot_ac": "Q9R1N3",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Sodium bicarbonate cotransporter 3",
                    "type": "recommended"
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                {
                    "name": "Electroneutral sodium bicarbonate cotransporter 1",
                    "type": "synonym"
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                {
                    "name": "NBC-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 7",
                    "type": "synonym"
                },
                {
                    "name": "electroneutral sodium bicarbonate cotransporter 1",
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                },
                {
                    "name": "sodium bicarbonate cotransporter 3 isoform 3",
                    "type": "synonym"
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                {
                    "name": "sodium bicarbonate cotransporter 3",
                    "type": "synonym"
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                {
                    "name": "solute carrier family 4 sodium bicarbonate cotransporter member 7 variant NBCn1-G",
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                {
                    "name": "solute carrier family 4 sodium bicarbonate cotransporter member 7 variant NBCn1-I",
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                {
                    "name": "solute carrier family 4 sodium bicarbonate cotransporter member 7 variant NBCn1-J",
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                {
                    "name": "solute carrier family 4, sodium bicarbonate cotransporter, member 7",
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                    "name": "NBC3",
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                },
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                    "name": "NBCn1",
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                {
                    "name": "Nbc2",
                    "type": "synonym"
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                    "name": "Nbc3",
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                {
                    "name": "Nbcn1",
                    "type": "synonym"
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                {
                    "name": "Nbc",
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                {
                    "name": "Slc4a7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1N3-1",
            "evidence": [
                {
                    "id": "0110839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPI3-1",
            "uniprot_ac": "Q8IPI3",
            "uniprot_id": "Q8IPI3_DROME",
            "refseq_ac": "NP_723263",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion exchange protein",
                    "type": "recommended"
                },
                {
                    "name": "CG42253-PC",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]-driven anion exchanger 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Ndae1-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndae1",
                    "type": "recommended"
                },
                {
                    "name": "153385_at",
                    "type": "synonym"
                },
                {
                    "name": "CG31906",
                    "type": "synonym"
                },
                {
                    "name": "CG42253",
                    "type": "synonym"
                },
                {
                    "name": "CG4675",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42253",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42253",
                    "type": "synonym"
                },
                {
                    "name": "NDAE1",
                    "type": "synonym"
                },
                {
                    "name": "Ndae-1",
                    "type": "synonym"
                },
                {
                    "name": "Ndae1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0257455.13",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10316",
                    "type": "synonym"
                },
                {
                    "name": "ndae1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPI3-1",
            "evidence": [
                {
                    "id": "0110839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6M7-1",
            "uniprot_ac": "Q9Y6M7",
            "uniprot_id": "S4A7_HUMAN",
            "refseq_ac": "NP_001245308",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium bicarbonate cotransporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Bicarbonate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Electroneutral Na/HCO(3) cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Sodium bicarbonate cotransporter 2b",
                    "type": "synonym"
                },
                {
                    "name": "Sodium bicarbonate cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 7",
                    "type": "synonym"
                },
                {
                    "name": "bicarbonate transporter",
                    "type": "synonym"
                },
                {
                    "name": "electroneutral Na/HCO(3) cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium bicarbonate cotransporter 2b",
                    "type": "synonym"
                },
                {
                    "name": "sodium bicarbonate cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium bicarbonate cotransporter 3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "sodium bicarbonate cotransporter 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, sodium bicarbonate cotransporter, member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC4A7",
                    "type": "recommended"
                },
                {
                    "name": "BT",
                    "type": "synonym"
                },
                {
                    "name": "NBC2B",
                    "type": "synonym"
                },
                {
                    "name": "NBC2",
                    "type": "synonym"
                },
                {
                    "name": "NBC3",
                    "type": "synonym"
                },
                {
                    "name": "NBCN1",
                    "type": "synonym"
                },
                {
                    "name": "NBCn1",
                    "type": "synonym"
                },
                {
                    "name": "SBC2",
                    "type": "synonym"
                },
                {
                    "name": "SLC4A6",
                    "type": "synonym"
                },
                {
                    "name": "SLC4A7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6M7-1",
            "evidence": [
                {
                    "id": "0110839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110839"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110839"
}