{
    "disease_id": "DOID:0111265",
    "recommended_name": {
        "id": "DOID:0111265",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111265",
        "name": "Boucher-Neuhauser syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111265",
            "name": "ataxia-hypogonadism-choroidal dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008980",
            "name": "ataxia-hypogonadism-choroidal dystrophy syndrome",
            "description": "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome."
        },
        {
            "id": "MONDO:0008980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008980",
            "name": "BNHS",
            "description": ""
        },
        {
            "id": "MONDO:0008980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008980",
            "name": "Boucher-Neuhauser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008980",
            "name": "Boucher-Neuhchuser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008980",
            "name": "Boucher-Neuhuser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008980",
            "name": "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0008980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008980",
            "name": "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008980",
            "name": "ataxia - hypogonadism - choroidal dystrophy",
            "description": ""
        },
        {
            "id": "MIM:215470",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/215470",
            "name": "Boucher-Neuhauser syndrome",
            "description": "Boucher-Neuhauser syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111265"
    ],
    "unlinked_id_list": []
}