{
    "disease_id": "DOID:0111228",
    "recommended_name": {
        "id": "DOID:0111228",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111228",
        "name": "Sveinsson chorioretinal atrophy",
        "description": "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "HPCD",
            "description": ""
        },
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "SCRA",
            "description": ""
        },
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "atrophia areata",
            "description": ""
        },
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "helicoid peripapillary chorioretinal degeneration",
            "description": ""
        },
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "peripapillary chorioretinal degeneration, Icelandic type",
            "description": ""
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "helicoid peripapillary chorioretinal degeneration",
            "description": "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease."
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "SCRA",
            "description": ""
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "Sveinsson chorioretinal atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "atrophia areata",
            "description": ""
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "SVEINSSON chorioretinal atrophy",
            "description": ""
        },
        {
            "id": "MIM:108985",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108985",
            "name": "Sveinsson chorioretinal atrophy",
            "description": "Sveinsson chorioretinal atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111228"
    ],
    "unlinked_id_list": []
}