{
  "id": 14712,
  "label": "Pitt-Hopkins-like syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013690",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16908,
      "label": "Pitt-Hopkins-like syndrome"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}