{
    "disease_id": "DOID:0110404",
    "recommended_name": {
        "id": "DOID:0110404",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110404",
        "name": "retinitis pigmentosa 17",
        "description": "A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1."
    },
    "synonyms": [
        {
            "id": "DOID:0110404",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110404",
            "name": "RP17",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "retinitis pigmentosa 17",
            "description": "Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1."
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "CA4 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "RP17",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "retinitis pigmentosa 17",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "retinitis pigmentosa caused by mutation in CA4",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "retinitis pigmentosa type 17",
            "description": ""
        },
        {
            "id": "MONDO:0010945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010945",
            "name": "RP 17",
            "description": ""
        },
        {
            "id": "MIM:600852",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600852",
            "name": "Retinitis pigmentosa 17",
            "description": "Retinitis pigmentosa 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110404"
    ],
    "unlinked_id_list": []
}