{
    "disease_id": "DOID:0110118",
    "recommended_name": {
        "id": "DOID:0110118",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110118",
        "name": "Leber congenital amaurosis 16",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "DOID:0110118",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110118",
            "name": "LCA16",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "Leber congenital amaurosis 16",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene."
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "KCNJ13 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "LCA16",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "Leber congenital amaurosis 16",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "Leber congenital amaurosis caused by mutation in KCNJ13",
            "description": ""
        },
        {
            "id": "MONDO:0013613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013613",
            "name": "Leber congenital amaurosis type 16",
            "description": ""
        },
        {
            "id": "MIM:614186",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614186",
            "name": "Leber congenital amaurosis 16",
            "description": "Leber congenital amaurosis 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110118"
    ],
    "unlinked_id_list": []
}
