{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008980", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008980", 
            "name": "ataxia-hypogonadism-choroidal dystrophy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008980", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008980", 
            "name": "BNHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008980", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008980", 
            "name": "boucher-NeuhC$user syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008980", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008980", 
            "name": "boucher-NEUHAUSER syndrome; BNHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008980", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008980", 
            "name": "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008980", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008980", 
            "name": "boucher-Neuhuser syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008980", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008980", 
            "name": "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008980", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008980", 
            "name": "ataxia - hypogonadism - choroidal dystrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111265", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111265", 
            "name": "ataxia-hypogonadism-choroidal dystrophy syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111265", 
        "description": "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111265", 
        "name": "Boucher-Neuhauser syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/215470", 
            "id": "215470", 
            "database": "MIM"
        }
    ]
}