{
    "disease_id": "DOID:0110330",
    "recommended_name": {
        "id": "DOID:0110330",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110330",
        "name": "Leber congenital amaurosis 13",
        "description": "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110330",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110330",
            "name": "LCA13",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "Leber congenital amaurosis 13",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene."
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "Leber congenital amaurosis caused by mutation in RDH12",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "retinitis pigmentosa 53",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "Leber congenital amaurosis 13",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "Leber congenital amaurosis 13; LCA13",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "Leber congenital amaurosis type 13",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "RDH12 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "LCA13",
            "description": ""
        },
        {
            "id": "MIM:612712",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612712",
            "name": "Retinitis pigmentosa 53",
            "description": "Retinitis pigmentosa 53"
        }
    ]
}