{
    "disease_id": "DOID:0060266",
    "recommended_name": {
        "id": "DOID:0060266",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060266",
        "name": "pontocerebellar hypoplasia type 1B",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "pontocerebellar hypoplasia type 1B",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene."
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "pontocerebellar hypoplasia, type 1B; PCH1B",
            "description": ""
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "PCH1B",
            "description": ""
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "pontocerebellar hypoplasia, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3",
            "description": ""
        },
        {
            "id": "MONDO:0013853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013853",
            "name": "EXOSC3 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MIM:614678",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614678",
            "name": "Pontocerebellar hypoplasia 1B",
            "description": "Pontocerebellar hypoplasia 1B"
        }
    ]
}