{
  "id": 16908,
  "label": "Pitt-Hopkins-like syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016377",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 26363,
      "label": "Pitt-Hopkins or Pitt-Hopkins-like syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIMPS:610954"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0980732"
    }
  ],
  "children": [
    {
      "id": 13451,
      "label": "cortical dysplasia-focal epilepsy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16908
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012400"
    },
    {
      "id": 14712,
      "label": "Pitt-Hopkins-like syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16908,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111332",
          "GARD:0022416",
          "GARD:0024939",
          "MEDGEN:1842499",
          "MEDGEN:482109",
          "OMIM:614325",
          "Orphanet:600663",
          "UMLS:C3280479",
          "UMLS:C5681528"
        ],
        "synonyms": [
          "NRXN1 Pitt-Hopkins-like syndrome",
          "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance",
          "PTHSL2",
          "Pitt-Hopkins-like syndrome 2",
          "Pitt-Hopkins-like syndrome caused by mutation in NRXN1",
          "Pitt-Hopkins-like syndrome type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013690"
    }
  ],
  "roots": [
    {
      "id": 26363,
      "label": "Pitt-Hopkins or Pitt-Hopkins-like syndrome"
    }
  ]
}