{
  "id": 12107,
  "label": "Timothy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010979",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 19046,
      "label": "familial long QT syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4527,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016547",
          "MEDGEN:685787",
          "MedDRA:10057926",
          "NANDO:2200228",
          "NORD:1675",
          "OMIMPS:192500",
          "Orphanet:101016",
          "Orphanet:768",
          "SCTID:442917000",
          "UMLS:C1141890",
          "icd11.foundation:1208831985"
        ],
        "synonyms": [
          "LQTS",
          "Long QT Syndrome",
          "Romano-Ward long QT syndrome",
          "Romano-Ward syndrome",
          "Ward-Romano syndrome",
          "congenital long QT syndrome",
          "familial long QT syndrome",
          "hereditary long QT syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias."
      },
      "child_count": 38,
      "reference_id": "MONDO:0019171"
    },
    {
      "id": 24701,
      "label": "CACNA1C-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "Any human disease (syndromic or non syndromic) in which the cause of the disease is a variation in the CACNA1C gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700321"
    }
  ],
  "children": [
    {
      "id": 20403,
      "label": "Timothy syndrome, classic type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12107
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0021171"
    },
    {
      "id": 20404,
      "label": "Timothy syndrome, atypical type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12107
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021172"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 19046,
      "label": "familial long QT syndrome"
    },
    {
      "id": 24701,
      "label": "CACNA1C-related disorder"
    }
  ]
}