{
    "disease_id": "DOID:0060277",
    "recommended_name": {
        "id": "DOID:0060277",
        "resource": "Disease Ontology",
        "url": "https://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": "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A 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": "CHMP1A non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "PCH8",
            "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 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": "pontocerebellar hypoplasia, type 8",
            "description": ""
        },
        {
            "id": "MIM:614961",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614961",
            "name": "Pontocerebellar hypoplasia 8",
            "description": "Pontocerebellar hypoplasia 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060277"
    ],
    "unlinked_id_list": []
}