{
  "id": 17238,
  "label": "spinocerebellar ataxia with epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016809",
  "properties": {
    "xrefs": [
      "GARD:0017229",
      "MEDGEN:334510",
      "MESH:C564395",
      "Orphanet:254881",
      "UMLS:C1843852",
      "icd11.foundation:1238648682"
    ],
    "synonyms": [
      "MSCAE",
      "SCAE",
      "mitochondrial spinocerebellar ataxia with epilepsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12916,
      "label": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        10856,
        17232,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111276",
          "GARD:0009998",
          "MEDGEN:375302",
          "OMIM:607459",
          "OMIM:613832",
          "Orphanet:402082",
          "Orphanet:70595",
          "UMLS:C1843851"
        ],
        "synonyms": [
          "EPM5",
          "PME type 5",
          "PRICKLE2 progressive myoclonic epilepsy",
          "SANDO",
          "epilepsy, progressive myoclonic, type 5",
          "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)",
          "progressive myoclonic epilepsy caused by mutation in PRICKLE2",
          "progressive myoclonus epilepsy type 5",
          "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
          "epilepsy, progressive myoclonic, 5",
          "epilepsy, progressive myoclonic, 5, formerly",
          "epilepsy, progressive myoclonic, with sensory ataxic neuropathy",
          "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive",
          "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome",
          "spinocerebellar ataxia with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011835"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12916,
      "label": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"
    }
  ]
}