{
    "disease_id": "DOID:0070517",
    "recommended_name": {
        "id": "DOID:0070517",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070517",
        "name": "retinal macular dystrophy 2",
        "description": "A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32."
    },
    "synonyms": [
        {
            "id": "DOID:0070517",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070517",
            "name": "MCDR2",
            "description": ""
        },
        {
            "id": "MONDO:0011957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011957",
            "name": "retinal macular dystrophy type 2",
            "description": "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages."
        },
        {
            "id": "MONDO:0011957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011957",
            "name": "MCDR2",
            "description": ""
        },
        {
            "id": "MONDO:0011957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011957",
            "name": "macular dystrophy, retinal, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011957",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011957",
            "name": "macular dystrophy, retinal, 2",
            "description": ""
        },
        {
            "id": "MIM:608051",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608051",
            "name": "Macular dystrophy, retinal, 2",
            "description": "Macular dystrophy, retinal, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070517"
    ],
    "unlinked_id_list": []
}