{
    "disease_id": "DOID:0080227", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0030921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0030921", 
            "name": "intellectual disability, autosomal dominant 55, with seizures"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0030921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0030921", 
            "name": "mental retardation, autosomal dominant 55, with seizures; MRD55"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0030921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0030921", 
            "name": "MRD55"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0030921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0030921", 
            "name": "mental retardation, autosomal dominant 55, with seizures"
        }, 
        {
            "url": "https://www.omim.org/entry/617831", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:617831", 
            "name": "Mental retardation, autosomal dominant 55, with seizures"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080227", 
        "description": "A syndromic intellectual disability characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080227", 
        "name": "autosomal dominant mental retardation 55"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617831", 
            "id": "617831", 
            "database": "MIM"
        }
    ]
}