{
    "disease_id": "DOID:0070148",
    "recommended_name": {
        "id": "DOID:0070148",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070148",
        "name": "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",
        "description": "A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux."
    },
    "synonyms": [
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            "description": ""
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            "url": "https://disease-ontology.org/term/DOID:0070148",
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            "description": ""
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            "resource": "Disease Ontology",
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            "id": "MONDO:0044720",
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            "description": ""
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        {
            "id": "MONDO:0044720",
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            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
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        },
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                {
                    "name": "dRF-Cp140",
                    "type": "synonym"
                },
                {
                    "name": "dRFC140",
                    "type": "synonym"
                },
                {
                    "name": "gnf1",
                    "type": "synonym"
                },
                {
                    "name": "gtf1",
                    "type": "synonym"
                },
                {
                    "name": "rfc1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35600-1",
            "evidence": [
                {
                    "id": "0070148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070148"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070148"
}