{
  "id": 20403,
  "label": "Timothy syndrome, classic type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021171",
  "properties": {
    "xrefs": [
      "GARD:0025297",
      "ICD9:759.89",
      "SCTID:699256006"
    ],
    "synonyms": [
      "Timothy syndrome type 1 (disorder)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Classic form of Timothy syndrome, includes all features of generic."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 22890,
      "label": "Timothy syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20403
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022380",
          "ICD10CM:I49.8",
          "MEDGEN:1802409",
          "Orphanet:595098",
          "UMLS:C5574939"
        ],
        "synonyms": [
          "LQT8 type 1",
          "TS1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Classical Timothy syndrome with cutaneous syndactyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035678"
    },
    {
      "id": 22891,
      "label": "Timothy syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20403
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022381",
          "ICD10CM:I49.8",
          "MEDGEN:930016",
          "Orphanet:595105",
          "UMLS:C4304347"
        ],
        "synonyms": [
          "LQT8 type 2",
          "TS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Classical Timothy syndrome without cutaneous syndactyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035679"
    }
  ],
  "roots": [
    {
      "id": 12107,
      "label": "Timothy syndrome"
    }
  ]
}