{
    "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": []
}