{
    "disease_id": "DOID:0060265",
    "recommended_name": {
        "id": "DOID:0060265",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060265",
        "name": "pontocerebellar hypoplasia type 1A",
        "description": "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in mutation in the VRK1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "pontocerebellar hypoplasia type 1A",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene."
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "pontocerebellar hypoplasia, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "pontocerebellar hypoplasia with infantile spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "pontocerebellar hypoplasia, type 1A; PCH1A",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "pontocerebellar hypoplasia with anterior horn cell disease",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "PCH1A",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "VRK1 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "Pch1",
            "description": ""
        },
        {
            "id": "MIM:607596",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607596",
            "name": "Pontocerebellar hypoplasia 1A",
            "description": "Pontocerebellar hypoplasia 1A"
        }
    ]
}