{
    "disease_id": "DOID:0060271",
    "recommended_name": {
        "id": "DOID:0060271",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060271",
        "name": "pontocerebellar hypoplasia type 2E",
        "description": "A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "pontocerebellar hypoplasia type 2E",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene."
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "VPS53 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53",
            "description": ""
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "pontocerebellar hypoplasia type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "PCH2E",
            "description": ""
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "pontocerebellar hypoplasia, type 2E",
            "description": ""
        },
        {
            "id": "MIM:615851",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615851",
            "name": "Pontocerebellar hypoplasia 2E",
            "description": "Pontocerebellar hypoplasia 2E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060271"
    ],
    "unlinked_id_list": []
}