{
    "disease_id": "DOID:0060266", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013853", 
            "name": "pontocerebellar hypoplasia, type 1B; PCH1B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013853", 
            "name": "PCH1B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013853", 
            "name": "pontocerebellar hypoplasia, type 1B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013853", 
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013853", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013853", 
            "name": "EXOSC3 non-syndromic pontocerebellar hypoplasia"
        }, 
        {
            "url": "https://www.omim.org/entry/614678", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:614678", 
            "name": "Pontocerebellar hypoplasia 1B"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060266", 
        "description": "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060266", 
        "name": "pontocerebellar hypoplasia type 1B"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614678", 
            "id": "614678", 
            "database": "MIM"
        }
    ]
}