{
    "disease_id": "DOID:0060273",
    "recommended_name": {
        "id": "DOID:0060273",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060273",
        "name": "pontocerebellar hypoplasia type 4",
        "description": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "pontocerebellar hypoplasia type 4",
            "description": "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death."
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "PCH4",
            "description": ""
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "fatal infantile encephalopathy with olivopontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "olivopontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "encephalopathy fatal infantile with olivopontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009166",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009166",
            "name": "pontocerebellar hypoplasia, type 4",
            "description": ""
        },
        {
            "id": "MIM:225753",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225753",
            "name": "Pontocerebellar hypoplasia 4",
            "description": "Pontocerebellar hypoplasia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060273"
    ],
    "unlinked_id_list": []
}