{
    "disease_id": "DOID:0060277",
    "recommended_name": {
        "id": "DOID:0060277",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060277",
        "name": "pontocerebellar hypoplasia type 8",
        "description": "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "pontocerebellar hypoplasia type 8",
            "description": "gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum."
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "pontocerebellar hypoplasia due to CHMP1A mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "pontocerebellar hypoplasia, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "pontocerebellar hypoplasia, type 8; PCH8",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "CHMP1A non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "PCH8",
            "description": ""
        },
        {
            "id": "MIM:614961",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614961",
            "name": "Pontocerebellar hypoplasia 8",
            "description": "Pontocerebellar hypoplasia 8"
        }
    ]
}