{
    "disease_id": "DOID:0110332", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011458", 
            "name": "LCA4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011458", 
            "name": "amaurosis congenita of Leber, type 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011458", 
            "name": "Leber congenital amaurosis type 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011458", 
            "name": "Leber congenital amaurosis 4; LCA4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011458", 
            "name": "Leber congenital amaurosis caused by mutation in AIPL1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011458", 
            "name": "retinitis pigmentosa, juvenile, Aipl1-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011458", 
            "name": "cone-Rod dystrophy, Aipl1-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011458", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011458", 
            "name": "AIPL1 Leber congenital amaurosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110332", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110332", 
            "name": "LCA4"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110332", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110332", 
        "name": "Leber congenital amaurosis 4"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/604393", 
            "id": "604393", 
            "database": "MIM"
        }
    ]
}