{
    "disease_id": "DOID:0110078",
    "recommended_name": {
        "id": "DOID:0110078",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110078",
        "name": "Leber congenital amaurosis 1",
        "description": "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110078",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110078",
            "name": "LCA1",
            "description": ""
        },
        {
            "id": "DOID:0110078",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110078",
            "name": "amaurosis congenita of Leber I",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "Leber congenital amaurosis 1",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene."
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "Leber congenital amaurosis caused by mutation in GUCY2D",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "retinal blindness, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "Leber congenital amaurosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "amaurosis congenita of Leber, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "GUCY2D Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "amaurosis congenita of Leber I",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "LCA1",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "CRB",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "LCA",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "amaurosis congenita of Leber 1",
            "description": ""
        },
        {
            "id": "MONDO:0008764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008764",
            "name": "Leber congenital amaurosis type 1",
            "description": ""
        },
        {
            "id": "MIM:204000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/204000",
            "name": "Leber congenital amaurosis 1",
            "description": "Leber congenital amaurosis 1"
        }
    ]
}