{
    "disease_id": "DOID:0111587",
    "recommended_name": {
        "id": "DOID:0111587",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111587",
        "name": "Gordon Holmes syndrome",
        "description": "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "CAHH",
            "description": ""
        },
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "GDHS",
            "description": ""
        },
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "LHRH deficiency and ataxia",
            "description": ""
        },
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "cerebellar ataxia-hypogonadism syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111587",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111587",
            "name": "luteinizing hormone-releasing hormone deficiency with ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "cerebellar ataxia-hypogonadism syndrome",
            "description": "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome."
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "Gordon-Holmes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "luteinizing hormone-releasing hormone deficiency with ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "GDHS",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "Gordon Holmes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "cerebellar ataxia - hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0008935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008935",
            "name": "luteinizing hormone releasing hormone, deficiency of with ataxia",
            "description": ""
        },
        {
            "id": "MIM:212840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212840",
            "name": "Gordon Holmes syndrome",
            "description": "Gordon Holmes syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111587"
    ],
    "unlinked_id_list": []
}