{
    "disease_id": "DOID:0110291",
    "recommended_name": {
        "id": "DOID:0110291",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110291",
        "name": "Leber congenital amaurosis 10",
        "description": "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32."
    },
    "synonyms": [
        {
            "id": "DOID:0110291",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110291",
            "name": "LCA10",
            "description": ""
        },
        {
            "id": "MONDO:0012723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012723",
            "name": "Leber congenital amaurosis 10",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene."
        },
        {
            "id": "MONDO:0012723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012723",
            "name": "amaurosis congenita of Leber, type 10",
            "description": ""
        },
        {
            "id": "MONDO:0012723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012723",
            "name": "CEP290 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0012723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012723",
            "name": "Leber congenital amaurosis type 10",
            "description": ""
        },
        {
            "id": "MONDO:0012723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012723",
            "name": "Leber congenital amaurosis 10; LCA10",
            "description": ""
        },
        {
            "id": "MONDO:0012723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012723",
            "name": "Leber congenital amaurosis caused by mutation in CEP290",
            "description": ""
        },
        {
            "id": "MONDO:0012723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012723",
            "name": "LCA10",
            "description": ""
        },
        {
            "id": "MONDO:0012723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012723",
            "name": "Leber congenital amaurosis 10",
            "description": ""
        },
        {
            "id": "MIM:611755",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611755",
            "name": "Leber congenital amaurosis 10",
            "description": "Leber congenital amaurosis 10"
        }
    ]
}
