{
    "disease_id": "DOID:0060277", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013990", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013990", 
            "name": "pontocerebellar hypoplasia due to CHMP1A mutation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013990", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013990", 
            "name": "pontocerebellar hypoplasia, type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013990", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013990", 
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013990", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013990", 
            "name": "pontocerebellar hypoplasia, type 8; PCH8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013990", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013990", 
            "name": "CHMP1A non-syndromic pontocerebellar hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013990", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013990", 
            "name": "PCH8"
        }, 
        {
            "url": "https://www.omim.org/entry/614961", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:614961", 
            "name": "Pontocerebellar hypoplasia 8"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060277", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060277", 
        "name": "pontocerebellar hypoplasia type 8"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614961", 
            "id": "614961", 
            "database": "MIM"
        }
    ]
}