{
    "disease_id": "DOID:0060275", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012683", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012683", 
            "name": "PCH6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012683", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012683", 
            "name": "pontocerebellar hypoplasia, type 6; PCH6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012683", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012683", 
            "name": "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012683", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012683", 
            "name": "RARS2 non-syndromic pontocerebellar hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012683", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012683", 
            "name": "encephalopathy fatal infantile with mitochondrial respiratory chain defects"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012683", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012683", 
            "name": "fatal infantile encephalopathy with mitochondrial respiratory chain defects"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012683", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012683", 
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012683", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012683", 
            "name": "pontocerebellar hypoplasia, type 6"
        }, 
        {
            "url": "https://www.omim.org/entry/611523", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:611523", 
            "name": "Pontocerebellar hypoplasia 6"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060275", 
        "description": "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060275", 
        "name": "pontocerebellar hypoplasia type 6"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/611523", 
            "id": "611523", 
            "database": "MIM"
        }
    ]
}