{
  "id": 20404,
  "label": "Timothy syndrome, atypical type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021172",
  "properties": {
    "xrefs": [
      "GARD:0022382",
      "ICD10CM:I49.8",
      "MEDGEN:1805271",
      "Orphanet:595109",
      "SCTID:719907006",
      "UMLS:C5575746"
    ],
    "synonyms": [
      "ATS",
      "Atypical LQT8",
      "Timothy syndrome type 2 (disorder)",
      "atypical Timothy syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12107,
      "label": "Timothy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19046,
        24701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060173",
          "GARD:0009294",
          "MEDGEN:331395",
          "MESH:C536962",
          "NCIT:C142894",
          "NORD:1772",
          "OMIM:601005",
          "Orphanet:65283",
          "UMLS:C1832916"
        ],
        "synonyms": [
          "TIMOTHY syndrome",
          "TS",
          "Timothy syndrome",
          "long QT syndrome-syndactyly syndrome",
          "LQT8",
          "long QT syndrome 8",
          "long QT syndrome type 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010979"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12107,
      "label": "Timothy syndrome"
    }
  ]
}