{
    "disease_id": "DOID:0060271", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014370", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014370", 
            "name": "PCH2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014370", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014370", 
            "name": "pontocerebellar hypoplasia, type 2E; PCH2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014370", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014370", 
            "name": "VPS53 non-syndromic pontocerebellar hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014370", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014370", 
            "name": "pontocerebellar hypoplasia, type 2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014370", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014370", 
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060271", 
        "description": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060271", 
        "name": "pontocerebellar hypoplasia type 2E"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060271#disease-associations", 
            "id": "0060271", 
            "database": "Alliance of Genome Resources"
        }
    ]
}