{
    "disease_id": "DOID:0110332",
    "recommended_name": {
        "id": "DOID:0110332",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110332",
        "name": "Leber congenital amaurosis 4",
        "description": "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110332",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110332",
            "name": "LCA4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "Leber congenital amaurosis 4",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene."
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "LCA4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "amaurosis congenita of Leber, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "Leber congenital amaurosis type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "Leber congenital amaurosis 4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "Leber congenital amaurosis 4; LCA4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "Leber congenital amaurosis caused by mutation in AIPL1",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "retinitis pigmentosa, juvenile, Aipl1-related",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "cone-Rod dystrophy, Aipl1-related",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "AIPL1 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MIM:604393",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604393",
            "name": "Leber congenital amaurosis 4",
            "description": "Leber congenital amaurosis 4"
        }
    ]
}