{
    "disease_id": "DOID:0112325",
    "recommended_name": {
        "id": "DOID:0112325",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112325",
        "name": "pontocerebellar hypoplasia type 14",
        "description": "A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112325",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112325",
            "name": "PCH14",
            "description": ""
        },
        {
            "id": "MONDO:0030258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030258",
            "name": "pontocerebellar hypoplasia, type 14",
            "description": ""
        },
        {
            "id": "MONDO:0030258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030258",
            "name": "PCH14",
            "description": ""
        },
        {
            "id": "MONDO:0030258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030258",
            "name": "pontocerebellar hypoplasia, type 14",
            "description": ""
        },
        {
            "id": "MIM:619301",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619301",
            "name": "Pontocerebellar hypoplasia 14",
            "description": "Pontocerebellar hypoplasia 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112325"
    ],
    "unlinked_id_list": []
}