{
    "disease_id": "DOID:0060267", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010190", 
            "name": "PCH2A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010190", 
            "name": "Pch2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010190", 
            "name": "pontocerebellar hypoplasia type 2 caused by mutation in TSEN54"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010190", 
            "name": "pontocerebellar hypoplasia, type 2A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010190", 
            "name": "microcephaly pontocerebellar hypoplasia dyskinesia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010190", 
            "name": "Volendam neurodegenerative disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010190", 
            "name": "pontocerebellar hypoplasia with progressive cerebral atrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010190", 
            "name": "TSEN54 pontocerebellar hypoplasia type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010190", 
            "name": "pontocerebellar hypoplasia, type 2A; PCH2A"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060267", 
        "description": "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060267", 
        "name": "pontocerebellar hypoplasia type 2A"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060267#disease-associations", 
            "id": "0060267", 
            "database": "Alliance of Genome Resources"
        }
    ]
}