{
  "id": 13636,
  "label": "Pitt-Hopkins syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012589",
  "properties": {
    "xrefs": [
      "DOID:0060488",
      "GARD:0004372",
      "ICD9:758.5",
      "MEDGEN:370910",
      "MESH:C537403",
      "NCIT:C129872",
      "NORD:1921",
      "OMIM:610954",
      "Orphanet:2896",
      "SCTID:702344008",
      "UMLS:C1970431",
      "icd11.foundation:2040786134"
    ],
    "synonyms": [
      "Pitt-Hopkins syndrome",
      "PTHS",
      "Pitt Hopkins syndrome",
      "encephalopathy, Severe epileptic, with autonomic dysfunction",
      "intellectual disability, Syndromal, with intermittent hyperventilation",
      "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea",
      "mental retardation, Syndromal, with intermittent hyperventilation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing."
  },
  "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": 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": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 26363,
      "label": "Pitt-Hopkins or Pitt-Hopkins-like syndrome"
    }
  ]
}