{
    "disease_id": "DOID:0060276", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013993", 
            "name": "pontocerebellar hypoplasia, type 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013993", 
            "name": "pontocerebellar hypoplasia, type 7; PCH7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013993", 
            "name": "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013993", 
            "name": "TOE1 non-syndromic pontocerebellar hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013993", 
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013993", 
            "name": "PCH7"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060276", 
        "description": "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060276", 
        "name": "pontocerebellar hypoplasia type 7"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060276#disease-associations", 
            "id": "0060276", 
            "database": "Alliance of Genome Resources"
        }
    ]
}