{
    "disease_id": "DOID:0060267",
    "recommended_name": {
        "id": "DOID:0060267",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060267",
        "name": "pontocerebellar hypoplasia type 2A",
        "description": "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0010190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010190",
            "name": "pontocerebellar hypoplasia type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010190",
            "name": "TSEN54 pontocerebellar hypoplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010190",
            "name": "pontocerebellar hypoplasia type 2 caused by mutation in TSEN54",
            "description": ""
        },
        {
            "id": "MONDO:0010190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010190",
            "name": "PCH2A",
            "description": ""
        },
        {
            "id": "MONDO:0010190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010190",
            "name": "microcephaly pontocerebellar hypoplasia dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0010190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010190",
            "name": "pontocerebellar hypoplasia, type 2A",
            "description": ""
        },
        {
            "id": "MIM:277470",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277470",
            "name": "Pontocerebellar hypoplasia 2A",
            "description": "Pontocerebellar hypoplasia 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060267"
    ],
    "unlinked_id_list": []
}