{
    "disease_id": "DOID:0070416",
    "recommended_name": {
        "id": "DOID:0070416",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070416",
        "name": "Luo-Schoch-Yamamoto syndrome",
        "description": "A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070416",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070416",
            "name": "LUSYAM",
            "description": ""
        },
        {
            "id": "MONDO:0859171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859171",
            "name": "Luo-Schoch-Yamamoto syndrome",
            "description": ""
        },
        {
            "id": "MIM:619460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619460",
            "name": "Luo-Schoch-Yamamoto syndrome",
            "description": "Luo-Schoch-Yamamoto syndrome"
        }
    ]
}
