{
    "disease_id": "DOID:0050662",
    "recommended_name": {
        "id": "DOID:0050662",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050662",
        "name": "bestrophinopathy",
        "description": "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12."
    },
    "synonyms": [
        {
            "id": "DOID:0050662",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050662",
            "name": "autosomal recessive bestrophinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012733",
            "name": "autosomal recessive bestrophinopathy",
            "description": "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)."
        },
        {
            "id": "MONDO:0012733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012733",
            "name": "retinopathy, Burgess-Black type",
            "description": ""
        },
        {
            "id": "MONDO:0012733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012733",
            "name": "ARB",
            "description": ""
        },
        {
            "id": "MONDO:0012733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012733",
            "name": "bestrophinopathy, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:611809",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611809",
            "name": "Bestrophinopathy, autosomal recessive",
            "description": "Bestrophinopathy, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050662"
    ],
    "unlinked_id_list": []
}