{
  "id": 23406,
  "label": "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044720",
  "properties": {
    "xrefs": [
      "DOID:0070148",
      "GARD:0016958",
      "GARD:0017937",
      "MEDGEN:330880",
      "MEDGEN:482853",
      "MESH:C564296",
      "OMIM:608088",
      "OMIM:614575",
      "Orphanet:139564",
      "Orphanet:504476",
      "SCTID:717825008",
      "UMLS:C1842586",
      "UMLS:C3281223"
    ],
    "synonyms": [
      "CABV syndrome",
      "CANVAS",
      "HSAN with cough and gastroesophageal reflux",
      "HSAN1B",
      "HSN1B",
      "cerebellar ataxia with bilateral vestibulopathy syndrome",
      "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",
      "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux",
      "hereditary sensory and autonomic neuropathy type 1B",
      "hereditary sensory and autonomic neuropathy type IB",
      "hereditary sensory neuropathy type IB",
      "neuropathy, hereditary sensory and autonomic, type 1B",
      "neuropathy, hereditary sensory, type IB"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024623",
        "name": "otorhinolaryngologic disease"
      }
    ],
    "definition": "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18346,
      "label": "hereditary sensory and autonomic neuropathy type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16223,
        18270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070162",
          "GARD:0006635",
          "MEDGEN:5645",
          "NORD:1237",
          "Orphanet:36386",
          "PMID:18348718",
          "SCTID:397734008",
          "UMLS:C0020071",
          "icd11.foundation:1989773046"
        ],
        "synonyms": [
          "HSAN1",
          "Hereditary Sensory Neuropathy Type I",
          "hereditary sensory and autonomic neuropathy type I",
          "HSAN 1",
          "HSN1",
          "hereditary sensory neuropathy type 1",
          "neuropathy hereditary sensory and autonomic type 1",
          "neuropathy hereditary sensory radicular, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018213"
    },
    {
      "id": 18718,
      "label": "hereditary otorhinolaryngologic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        21538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021935",
          "MEDGEN:1842579",
          "Orphanet:466084",
          "UMLS:C5681130"
        ],
        "synonyms": [
          "genetic otorhinolaryngologic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome."
      },
      "child_count": 42,
      "reference_id": "MONDO:0018751"
    },
    {
      "id": 19714,
      "label": "autosomal recessive syndromic cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019416",
          "MEDGEN:1843251",
          "Orphanet:98099",
          "UMLS:C5681516"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020047"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18346,
      "label": "hereditary sensory and autonomic neuropathy type 1"
    },
    {
      "id": 18718,
      "label": "hereditary otorhinolaryngologic disease"
    },
    {
      "id": 19714,
      "label": "autosomal recessive syndromic cerebellar ataxia"
    }
  ]
}