{
    "disease_id": "DOID:0112334",
    "recommended_name": {
        "id": "DOID:0112334",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112334",
        "name": "pontocerebellar hypoplasia type 1C",
        "description": "A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112334",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112334",
            "name": "PCH1C",
            "description": ""
        },
        {
            "id": "MONDO:0014485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014485",
            "name": "pontocerebellar hypoplasia, type 1C",
            "description": "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene."
        },
        {
            "id": "MONDO:0014485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014485",
            "name": "EXOSC8 pontocerebellar hypoplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0014485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014485",
            "name": "pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8",
            "description": ""
        },
        {
            "id": "MONDO:0014485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014485",
            "name": "pontocerebellar hypoplasia, type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0014485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014485",
            "name": "PCH1C",
            "description": ""
        },
        {
            "id": "MONDO:0014485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014485",
            "name": "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MIM:616081",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616081",
            "name": "Pontocerebellar hypoplasia 1C",
            "description": "Pontocerebellar hypoplasia 1C"
        }
    ]
}