{
    "disease_id": "DOID:0112331",
    "recommended_name": {
        "id": "DOID:0112331",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112331",
        "name": "pontocerebellar hypoplasia type 1F",
        "description": "A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112331",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112331",
            "name": "PCH1F",
            "description": ""
        },
        {
            "id": "MONDO:0030261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030261",
            "name": "pontocerebellar hypoplasia, type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0030261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030261",
            "name": "PCH1F",
            "description": ""
        },
        {
            "id": "MONDO:0030261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030261",
            "name": "pontocerebellar hypoplasia, type 1F",
            "description": ""
        },
        {
            "id": "MIM:619304",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619304",
            "name": "Pontocerebellar hypoplasia 1F",
            "description": "Pontocerebellar hypoplasia 1F"
        }
    ]
}