{
    "disease_id": "DOID:0060274",
    "recommended_name": {
        "id": "DOID:0060274",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060274",
        "name": "pontocerebellar hypoplasia type 5",
        "description": "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012438",
            "name": "pontocerebellar hypoplasia type 5",
            "description": "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5."
        },
        {
            "id": "MONDO:0012438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012438",
            "name": "PCH5",
            "description": ""
        },
        {
            "id": "MONDO:0012438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012438",
            "name": "fetal-onset olivopontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012438",
            "name": "olivopontocerebellar hypoplasia fetal-onset",
            "description": ""
        },
        {
            "id": "MONDO:0012438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012438",
            "name": "pontocerebellar hypoplasia, type 5",
            "description": ""
        },
        {
            "id": "MIM:610204",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610204",
            "name": "Pontocerebellar hypoplasia 5",
            "description": "Pontocerebellar hypoplasia 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060274"
    ],
    "unlinked_id_list": []
}