{
  "id": 13451,
  "label": "cortical dysplasia-focal epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012400",
  "properties": {
    "xrefs": [
      "DOID:0090130",
      "GARD:0016997",
      "MEDGEN:413258",
      "MESH:C567657",
      "NCIT:C133743",
      "OMIM:610042",
      "Orphanet:163681",
      "UMLS:C2750246"
    ],
    "synonyms": [
      "CDFE syndrome",
      "CDFES",
      "Pitt-Hopkins like syndrome 1",
      "cortical dysplasia-focal epilepsy syndrome",
      "PTHSL1",
      "Pitt-Hopkins-like syndrome 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16908,
      "label": "Pitt-Hopkins-like syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        26363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011967",
          "MEDGEN:1648432",
          "Orphanet:221150",
          "UMLS:C4751168"
        ],
        "synonyms": [
          "PTHSL"
        ],
        "definition": "Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016377"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16908,
      "label": "Pitt-Hopkins-like syndrome"
    }
  ]
}