{
    "disease_id": "DOID:0110840",
    "recommended_name": {
        "id": "DOID:0110840",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110840",
        "name": "Usher syndrome type 2D",
        "description": "An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110840",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110840",
            "name": "USH2D",
            "description": ""
        },
        {
            "id": "DOID:0110840",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110840",
            "name": "Usher syndrome type IID",
            "description": ""
        },
        {
            "id": "MONDO:0012662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012662",
            "name": "Usher syndrome type 2D",
            "description": "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene."
        },
        {
            "id": "MONDO:0012662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012662",
            "name": "USH2D",
            "description": ""
        },
        {
            "id": "MONDO:0012662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012662",
            "name": "Usher syndrome caused by mutation in WHRN",
            "description": ""
        },
        {
            "id": "MONDO:0012662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012662",
            "name": "Usher syndrome type 2D",
            "description": ""
        },
        {
            "id": "MONDO:0012662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012662",
            "name": "WHRN Usher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012662",
            "name": "USHER syndrome, type IID",
            "description": ""
        },
        {
            "id": "MIM:611383",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611383",
            "name": "Usher syndrome 2D",
            "description": "Usher syndrome 2D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110840"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110840",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110840",
            "categories": []
        },
        {
            "id": "MONDO:0012662",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012662",
            "categories": []
        },
        {
            "id": "MIM:611383",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611383",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P8V0-1",
            "uniprot_ac": "A0A8M9P8V0",
            "uniprot_id": "A0A8M9P8V0_DANRE",
            "refseq_ac": "XP_021327282",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Whirlin",
                    "type": "synonym"
                },
                {
                    "name": "whirlin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "whrnb",
                    "type": "recommended"
                },
                {
                    "name": "whrnb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P8V0-1",
            "evidence": [
                {
                    "id": "0110840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110840"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58IAF3-1",
            "uniprot_ac": "A0AC58IAF3",
            "uniprot_id": "A0AC58IAF3_DANRE",
            "refseq_ac": "XP_073791192",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Whirlin",
                    "type": "recommended"
                },
                {
                    "name": "whirlin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "whrna",
                    "type": "recommended"
                },
                {
                    "name": "whrna",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IAF3-1",
            "evidence": [
                {
                    "id": "0110840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110840"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80VW5-1",
            "uniprot_ac": "Q80VW5",
            "uniprot_id": "WHRN_MOUSE",
            "refseq_ac": "NP_001008791",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Whirlin",
                    "type": "recommended"
                },
                {
                    "name": "whirler",
                    "type": "synonym"
                },
                {
                    "name": "whirlin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Whrn",
                    "type": "recommended"
                },
                {
                    "name": "1110035G07Rik",
                    "type": "synonym"
                },
                {
                    "name": "C430046P22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dfnb31",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1526",
                    "type": "synonym"
                },
                {
                    "name": "Ush2d",
                    "type": "synonym"
                },
                {
                    "name": "Whrn",
                    "type": "synonym"
                },
                {
                    "name": "wi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80VW5-1",
            "evidence": [
                {
                    "id": "0110840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110840"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P202-1",
            "uniprot_ac": "Q9P202",
            "uniprot_id": "WHRN_HUMAN",
            "refseq_ac": "NP_001333819",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Whirlin",
                    "type": "recommended"
                },
                {
                    "name": "Autosomal recessive deafness type 31 protein",
                    "type": "synonym"
                },
                {
                    "name": "CASK-interacting protein CIP98",
                    "type": "synonym"
                },
                {
                    "name": "autosomal recessive deafness type 31 protein",
                    "type": "synonym"
                },
                {
                    "name": "whirlin isoform 4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WHRN",
                    "type": "recommended"
                },
                {
                    "name": "CIP98",
                    "type": "synonym"
                },
                {
                    "name": "DFNB31",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1526",
                    "type": "synonym"
                },
                {
                    "name": "PDZD7B",
                    "type": "synonym"
                },
                {
                    "name": "USH2D",
                    "type": "synonym"
                },
                {
                    "name": "WHRN",
                    "type": "synonym"
                },
                {
                    "name": "WI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P202-1",
            "evidence": [
                {
                    "id": "611383",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611383"
                },
                {
                    "id": "0110840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110840"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q810W9-1",
            "uniprot_ac": "Q810W9",
            "uniprot_id": "WHRN_RAT",
            "refseq_ac": "NP_851602",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Whirlin",
                    "type": "recommended"
                },
                {
                    "name": "CASK-interacting protein CIP98",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 31",
                    "type": "synonym"
                },
                {
                    "name": "whirlin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Whrn",
                    "type": "recommended"
                },
                {
                    "name": "Cip98",
                    "type": "synonym"
                },
                {
                    "name": "Dfnb31",
                    "type": "synonym"
                },
                {
                    "name": "Whrn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q810W9-1",
            "evidence": [
                {
                    "id": "0110840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110840"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PF56-1",
            "uniprot_ac": "M9PF56",
            "uniprot_id": "M9PF56_DROME",
            "refseq_ac": "NP_001261810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG43749-PG",
                    "type": "synonym"
                },
                {
                    "name": "Dyschronic, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "dysc-PG",
                    "type": "synonym"
                },
                {
                    "name": "dyschronic, isoform G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dysc",
                    "type": "recommended"
                },
                {
                    "name": "CG17368",
                    "type": "synonym"
                },
                {
                    "name": "CG32131",
                    "type": "synonym"
                },
                {
                    "name": "CG32132",
                    "type": "synonym"
                },
                {
                    "name": "CG34400",
                    "type": "synonym"
                },
                {
                    "name": "CG43749",
                    "type": "synonym"
                },
                {
                    "name": "CG8760",
                    "type": "synonym"
                },
                {
                    "name": "DYSC",
                    "type": "synonym"
                },
                {
                    "name": "Dm_3L:69335",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43749",
                    "type": "synonym"
                },
                {
                    "name": "anon-AE003536.1",
                    "type": "synonym"
                },
                {
                    "name": "dysc",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PF56-1",
            "evidence": [
                {
                    "id": "0110840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110840"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110840"
}