{
    "disease_id": "DOID:0080235", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0030913", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0030913", 
            "name": "intellectual disability, autosomal dominant 48"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0030913", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0030913", 
            "name": "MRD48"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0030913", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0030913", 
            "name": "microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0030913", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0030913", 
            "name": "mental retardation, autosomal dominant 48"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0030913", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0030913", 
            "name": "mental retardation, autosomal dominant 48; MRD48"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080235", 
        "description": "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080235", 
        "name": "autosomal dominant mental retardation 48"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080235#disease-associations", 
            "id": "0080235", 
            "database": "Alliance of Genome Resources"
        }
    ]
}