{
  "id": 18492,
  "label": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018446",
  "properties": {
    "xrefs": [
      "GARD:0021719",
      "MEDGEN:1843349",
      "Orphanet:404481",
      "UMLS:C5681145"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050950",
          "GARD:0018718",
          "MEDGEN:1843058",
          "OMIMPS:213200",
          "Orphanet:1172",
          "UMLS:C5575375"
        ],
        "synonyms": [
          "ARCA",
          "arca",
          "cerebellar ataxia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015244"
    },
    {
      "id": 16437,
      "label": "monogenic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020086",
          "MEDGEN:1842675",
          "Orphanet:166472",
          "UMLS:C5680430"
        ],
        "synonyms": [
          "monogenic disease with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0015653"
    }
  ],
  "children": [
    {
      "id": 14709,
      "label": "autosomal recessive spinocerebellar ataxia 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18492
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013687"
    },
    {
      "id": 15315,
      "label": "autosomal recessive spinocerebellar ataxia 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18492
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080057",
          "GARD:0017678",
          "MEDGEN:816656",
          "OMIM:615705",
          "Orphanet:404499",
          "UMLS:C3810326"
        ],
        "synonyms": [
          "RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome",
          "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome",
          "SCAR15",
          "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN",
          "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN",
          "autosomal recessive spinocerebellar ataxia type 15",
          "spinocerebellar ataxia, autosomal recessive type 15",
          "Salih ataxia",
          "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency",
          "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency",
          "spinocerebellar ataxia, autosomal recessive 15"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014311"
    },
    {
      "id": 15830,
      "label": "spinocerebellar ataxia, autosomal recessive 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18492
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111613",
          "GARD:0017677",
          "MEDGEN:1667331",
          "OMIM:616949",
          "Orphanet:404493",
          "UMLS:C4750914"
        ],
        "synonyms": [
          "SCAR23",
          "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency",
          "spinocerebellar ataxia autosomal recessive type 23",
          "spinocerebellar ataxia, autosomal recessive 23",
          "spinocerebellar ataxia, autosomal recessive type 23"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014846"
    }
  ],
  "roots": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    },
    {
      "id": 16437,
      "label": "monogenic epilepsy"
    }
  ]
}