{
    "disease_id": "DOID:0111841",
    "recommended_name": {
        "id": "DOID:0111841",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111841",
        "name": "Shukla-Vernon syndrome",
        "description": "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in BCORL1 on chromosome Xq26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111841",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111841",
            "name": "SHUVER",
            "description": ""
        },
        {
            "id": "MIM:301029",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301029",
            "name": "Shukla-Vernon syndrome",
            "description": "Shukla-Vernon syndrome"
        }
    ]
}
