{
    "disease_id": "DOID:0111898", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010441", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010441", 
            "name": "mental retardation, X-linked, with thin body habitus and cortical malformation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010441", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010441", 
            "name": "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111898", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111898", 
            "name": "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111898", 
        "description": "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in NSDHL on chromosome Xq28.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111898", 
        "name": "CK syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111898#disease-associations", 
            "id": "0111898", 
            "database": "Alliance of Genome Resources"
        }
    ]
}