{
    "disease_id": "DOID:0112240",
    "recommended_name": {
        "id": "DOID:0112240",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112240",
        "name": "Leber congenital amaurosis with early-onset deafness",
        "description": "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112240",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112240",
            "name": "LCAEOD",
            "description": ""
        },
        {
            "id": "MONDO:0060650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060650",
            "name": "Leber congenital amaurosis with early-onset deafness",
            "description": ""
        },
        {
            "id": "MONDO:0060650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060650",
            "name": "Leber congenital amaurosis with early-onset deafness",
            "description": ""
        },
        {
            "id": "MONDO:0060650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060650",
            "name": "LCAEOD",
            "description": ""
        },
        {
            "id": "MIM:617879",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617879",
            "name": "Leber congenital amaurosis with early-onset deafness",
            "description": "Leber congenital amaurosis with early-onset deafness"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112240"
    ],
    "unlinked_id_list": []
}