{
    "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": ""
        },
        {
            "id": "MIM:605472",
            "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": []
}