{
  "id": 26363,
  "label": "Pitt-Hopkins or Pitt-Hopkins-like syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0980732",
  "properties": {
    "xrefs": [
      "OMIMPS:610954"
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [
    {
      "id": 13636,
      "label": "Pitt-Hopkins syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        26363
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012589"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}