{
    "disease_id": "DOID:0080142", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013582", 
            "name": "CEP57 mosaic variegated aneuploidy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013582", 
            "name": "MOSAIC variegated aneuploidy syndrome 2; MVA2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013582", 
            "name": "MVA2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013582", 
            "name": "mosaic variegated aneuploidy syndrome caused by mutation in CEP57"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013582", 
            "name": "mosaic variegated aneuploidy syndrome type 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080142", 
        "description": "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080142", 
        "name": "mosaic variegated aneuploidy syndrome 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080142#disease-associations", 
            "id": "0080142", 
            "database": "Alliance of Genome Resources"
        }
    ]
}