{
    "disease_id": "DOID:0112332",
    "recommended_name": {
        "id": "DOID:0112332",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112332",
        "name": "pontocerebellar hypoplasia type 13",
        "description": "A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112332",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112332",
            "name": "PCH13",
            "description": ""
        },
        {
            "id": "MONDO:0032831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032831",
            "name": "pontocerebellar hypoplasia, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0032831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032831",
            "name": "PCH13",
            "description": ""
        },
        {
            "id": "MONDO:0032831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032831",
            "name": "PONTOCEREBELLAR HYPOPLASIA, TYPE 13",
            "description": ""
        },
        {
            "id": "MIM:618606",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618606",
            "name": "Pontocerebellar hypoplasia 13",
            "description": "Pontocerebellar hypoplasia 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112332"
    ],
    "unlinked_id_list": []
}