{
    "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": [
        {
            "id": "DOID:0070148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070148",
            "name": "hereditary sensory neuropathy type IB",
            "description": ""
        },
        {
            "id": "DOID:0070148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070148",
            "name": "hereditary sensory neuropathy type 1B",
            "description": ""
        },
        {
            "id": "DOID:0070148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070148",
            "name": "CANVAS",
            "description": ""
        },
        {
            "id": "DOID:0070148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070148",
            "name": "hereditary sensory and autonomic neuropathy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome",
            "description": "An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy."
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "CABV syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "CANVAS",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "HSAN with cough and gastroesophageal reflux",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "HSAN1B",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "HSN1B",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "cerebellar ataxia with bilateral vestibulopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "hereditary sensory and autonomic neuropathy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "hereditary sensory and autonomic neuropathy type IB",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "hereditary sensory neuropathy type IB",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "neuropathy, hereditary sensory and autonomic, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "neuropathy, hereditary sensory, type IB",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome",
            "description": "An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy."
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "CABV syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "CANVAS",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "HSAN with cough and gastroesophageal reflux",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "HSAN1B",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "HSN1B",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "cerebellar ataxia with bilateral vestibulopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "hereditary sensory and autonomic neuropathy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "hereditary sensory and autonomic neuropathy type IB",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "hereditary sensory neuropathy type IB",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "neuropathy, hereditary sensory and autonomic, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0044720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044720",
            "name": "neuropathy, hereditary sensory, type IB",
            "description": ""
        },
        {
            "id": "MIM:614575",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614575",
            "name": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",
            "description": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070148"
    ],
    "unlinked_id_list": []
}