{
  "id": 11976,
  "label": "pachygyria-intellectual disability-epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010840",
  "properties": {
    "xrefs": [
      "GARD:0000409",
      "MEDGEN:333107",
      "MESH:C538091",
      "OMIM:600176",
      "Orphanet:2798",
      "SCTID:763861000",
      "UMLS:C1838491"
    ],
    "synonyms": [
      "Kuzniecky syndrome",
      "pachygyria with intellectual disability and seizures",
      "pachygyria with intellectual disability, seizures, and arachnoid cysts",
      "pachygyria with mental retardation and seizures",
      "pachygyria with mental retardation, seizures, and arachnoid cysts",
      "pachygyria, intellectual disability and epilepsy",
      "pachygyria, mental retardation and epilepsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}