{
    "disease_id": "DOID:0110838",
    "recommended_name": {
        "id": "DOID:0110838",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110838",
        "name": "Usher syndrome type 2A",
        "description": "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "DOID:0110838",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110838",
            "name": "USH2A",
            "description": ""
        },
        {
            "id": "DOID:0110838",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110838",
            "name": "Usher syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010169",
            "name": "Usher syndrome type 2A",
            "description": "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene."
        },
        {
            "id": "MONDO:0010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010169",
            "name": "USH2A",
            "description": ""
        },
        {
            "id": "MONDO:0010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010169",
            "name": "USH2A Usher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010169",
            "name": "Usher syndrome caused by mutation in USH2A",
            "description": ""
        },
        {
            "id": "MONDO:0010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010169",
            "name": "Usher syndrome type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010169",
            "name": "retinal disease in usher syndrome type IIA, modifier of",
            "description": ""
        },
        {
            "id": "MONDO:0010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010169",
            "name": "US2",
            "description": ""
        },
        {
            "id": "MONDO:0010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010169",
            "name": "USHER syndrome, type IIA",
            "description": ""
        },
        {
            "id": "MIM:276901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/276901",
            "name": "Usher syndrome 2A",
            "description": "Usher syndrome 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110838"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110838",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110838",
            "categories": []
        },
        {
            "id": "MONDO:0010169",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010169",
            "categories": []
        },
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            "id": "MIM:276901",
            "database": "MIM",
            "url": "https://www.omim.org/entry/276901",
            "categories": []
        }
    ],
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            "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",
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                    "id": "0110838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110838"
                }
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        },
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            "uniprot_ac": "A0A8M3AYZ6",
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            "refseq_ac": "XP_009298981",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein 7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pdzd7b",
                    "type": "recommended"
                },
                {
                    "name": "pdzd7b",
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            ],
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                    "id": "0110838",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110838"
                }
            ]
        },
        {
            "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"
                }
            ],
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                {
                    "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": "0110838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q9W7-1",
            "uniprot_ac": "E9Q9W7",
            "uniprot_id": "PDZD7_MOUSE",
            "refseq_ac": "NP_001182194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "PDZ domain-containing protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdzd7",
                    "type": "recommended"
                },
                {
                    "name": "9130207N01",
                    "type": "synonym"
                },
                {
                    "name": "EG435601",
                    "type": "synonym"
                },
                {
                    "name": "Pdzd7",
                    "type": "synonym"
                },
                {
                    "name": "Pdzk7",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q9W7-1",
            "evidence": [
                {
                    "id": "0110838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75445-1",
            "uniprot_ac": "O75445",
            "uniprot_id": "USH2A_HUMAN",
            "refseq_ac": "NP_996816",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Usherin",
                    "type": "recommended"
                },
                {
                    "name": "Usher syndrome 2A (autosomal recessive, mild)",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type IIa protein",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-2A protein",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type IIa protein",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-2A protein",
                    "type": "synonym"
                },
                {
                    "name": "usherin isoform B precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USH2A",
                    "type": "recommended"
                },
                {
                    "name": "RP39",
                    "type": "synonym"
                },
                {
                    "name": "US2",
                    "type": "synonym"
                },
                {
                    "name": "USH2A",
                    "type": "synonym"
                },
                {
                    "name": "USH2",
                    "type": "synonym"
                },
                {
                    "name": "dJ1111A8.1",
                    "type": "synonym"
                }
            ],
            "record_id": "O75445-1",
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                {
                    "id": "276901",
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                    "url": "https://www.omim.org/entry/276901"
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                    "id": "0110838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H5P4-3",
            "uniprot_ac": "Q9H5P4",
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            "refseq_ac": "NP_001182192",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "PDZ domain-containing protein 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 57",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDZD7",
                    "type": "recommended"
                },
                {
                    "name": "DFNB57",
                    "type": "synonym"
                },
                {
                    "name": "PDZD7",
                    "type": "synonym"
                },
                {
                    "name": "PDZK7",
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                    "id": "0110838",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110838"
                }
            ]
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            "uniprot_canonical_ac": "D4AAZ9-1",
            "uniprot_ac": "D4AAZ9",
            "uniprot_id": "D4AAZ9_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                    "name": "PDZ domain-containing protein 7",
                    "type": "recommended"
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            "gene_names": [
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                    "name": "Pdzd7",
                    "type": "recommended"
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                    "name": "LOC681677",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AAZ9-1",
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                    "id": "0110838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3K1-2",
            "uniprot_ac": "Q8K3K1",
            "uniprot_id": "USH2A_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Usherin",
                    "type": "recommended"
                },
                {
                    "name": "Usher syndrome type IIa protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-2A protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ush2a",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8K3K1-2",
            "evidence": [
                {
                    "id": "0110838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110838"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110838"
}