{
    "disease_id": "DOID:3783", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010561", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010561", 
            "name": "CLS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010561", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010561", 
            "name": "dwarfism, lean spastic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010561", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010561", 
            "name": "Coffin syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010561", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010561", 
            "name": "Coffin syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010561", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010561", 
            "name": "lean spastic dwarfism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010561", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010561", 
            "name": "mental retardation with osteocartilaginous abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010561", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010561", 
            "name": "COFFIN-Lowry syndrome; CLS"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:3783", 
        "description": "A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene  on chromosome Xp22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:3783", 
        "name": "Coffin-Lowry syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/3783#disease-associations", 
            "id": "3783", 
            "database": "Alliance of Genome Resources"
        }
    ]
}