{
  "id": 14709,
  "label": "autosomal recessive spinocerebellar ataxia 12",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013687",
  "properties": {
    "xrefs": [
      "DOID:0080060",
      "GARD:0017313",
      "MEDGEN:482082",
      "OMIM:614322",
      "Orphanet:284282",
      "UMLS:C3280452"
    ],
    "synonyms": [
      "SCAR12",
      "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome",
      "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome",
      "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX",
      "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX",
      "autosomal recessive spinocerebellar ataxia 12",
      "autosomal recessive spinocerebellar ataxia type 12",
      "spinocerebellar ataxia, autosomal recessive type 12",
      "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency",
      "spinocerebellar ataxia with intellectual disability and epilepsy",
      "spinocerebellar ataxia with mental retardation and epilepsy",
      "spinocerebellar ataxia, autosomal recessive 12"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18492,
      "label": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133,
        16437
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021719",
          "MEDGEN:1843349",
          "Orphanet:404481",
          "UMLS:C5681145"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018446"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18492,
      "label": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome"
    }
  ]
}