{
    "disease_id": "DOID:0080142",
    "recommended_name": {
        "id": "DOID:0080142",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080142",
        "name": "mosaic variegated aneuploidy syndrome 2",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "mosaic variegated aneuploidy syndrome 2",
            "description": "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene."
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "CEP57 mosaic variegated aneuploidy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "Mosaic variegated aneuploidy syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "mosaic variegated aneuploidy syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "mosaic variegated aneuploidy syndrome caused by mutation in CEP57",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "mosaic variegated aneuploidy syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "MOSAIC variegated aneuploidy syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "MVA2",
            "description": ""
        },
        {
            "id": "MIM:614114",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614114",
            "name": "Mosaic variegated aneuploidy syndrome 2",
            "description": "Mosaic variegated aneuploidy syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080142"
    ],
    "unlinked_id_list": []
}