{
    "disease_id": "DOID:0060269",
    "recommended_name": {
        "id": "DOID:0060269",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060269",
        "name": "pontocerebellar hypoplasia type 2C",
        "description": "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "pontocerebellar hypoplasia type 2C",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene."
        },
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "TSEN34 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "pontocerebellar hypoplasia, type 2C; PCH2C",
            "description": ""
        },
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "PCH2C",
            "description": ""
        },
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "pontocerebellar hypoplasia, type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0012891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012891",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34",
            "description": ""
        },
        {
            "id": "MIM:612390",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612390",
            "name": "Pontocerebellar hypoplasia 2C",
            "description": "Pontocerebellar hypoplasia 2C"
        }
    ]
}