{
  "id": 19046,
  "label": "familial long QT syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019171",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 19,
  "parents": [
    {
      "id": 4527,
      "label": "long QT syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2843",
          "GARD:0027044",
          "ICD10CM:I45.81",
          "ICD9:426.82",
          "MEDGEN:44193",
          "MESH:D008133",
          "NANDO:2100053",
          "NANDO:2200228",
          "NCIT:C34786",
          "UMLS:C0023976"
        ],
        "synonyms": [
          "long QT syndrome",
          "ventricular arrhythmia associated with long QT syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome."
      },
      "child_count": 1,
      "reference_id": "MONDO:0002442"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 4526,
      "label": "Jervell and Lange-Nielsen syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2842",
          "GARD:0003048",
          "MEDGEN:5929",
          "MESH:D029593",
          "MedDRA:10057936",
          "NCIT:C84793",
          "NORD:1310",
          "OMIMPS:220400",
          "Orphanet:90647",
          "SCTID:373905003",
          "UMLS:C0022387"
        ],
        "synonyms": [
          "Jervell Lange-Nielsen syndrome",
          "Jervell and Lange Nielsen syndrome",
          "long QT interval-deafness syndrome",
          "Cardioauditory syndrome of Jervell and Lange-Nielsen",
          "JLNS1",
          "Jervell and Lange-Nielsen syndrome 1",
          "Jervell and Lange-Nielsen syndrome type 1",
          "Surdo-cardiac syndrome",
          "deafness, congenital, and functional heart disease",
          "prolonged QT interval in EKG and sudden death"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0002441"
    },
    {
      "id": 9529,
      "label": "Andersen-Tawil syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3261,
        19001,
        19046,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050434",
          "GARD:0009453",
          "ICD9:759.89",
          "MEDGEN:327586",
          "MESH:D050030",
          "NANDO:1200827",
          "NCIT:C84559",
          "NORD:1883",
          "OMIM:170390",
          "Orphanet:37553",
          "SCTID:422348008",
          "UMLS:C1563715"
        ],
        "synonyms": [
          "ATS",
          "Andersen cardiodysrhythmic periodic paralysis",
          "Andersen syndrome",
          "Andersen-Tawil syndrome",
          "LQT7",
          "long QT syndrome 7",
          "long QT syndrome type 7",
          "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features",
          "cardiodysrhythmic potassium-sensitive periodic paralysis",
          "periodic paralysis, Potassium-sensitive cardiodysrhythmic type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008222"
    },
    {
      "id": 12087,
      "label": "cardiac arrhythmia, ankyrin-B-related",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111700",
          "DOID:0111701",
          "GARD:0013294",
          "MEDGEN:370181",
          "OMIM:600919",
          "SCTID:764457005",
          "UMLS:C1970119"
        ],
        "synonyms": [
          "ankyrin-B syndrome",
          "cardiac arrhythmia, ankyrin-b-related",
          "LQT4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010958"
    },
    {
      "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"
    },
    {
      "id": 12487,
      "label": "long QT syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046,
        26602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110646",
          "GARD:0003286",
          "MEDGEN:349087",
          "MESH:C565840",
          "NCIT:C137959",
          "OMIM:603830",
          "UMLS:C1859062"
        ],
        "synonyms": [
          "LQT3",
          "SCN5A long QT syndrome",
          "long QT syndrome 3",
          "long QT syndrome caused by mutation in SCN5A",
          "long QT syndrome type 3",
          "long QT syndrome 2/3, digenic",
          "long QT syndrome 3, acquired, susceptibility to",
          "long QT syndrome 3/6, digenic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011377"
    },
    {
      "id": 13776,
      "label": "long QT syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110650",
          "GARD:0010435",
          "MEDGEN:395635",
          "MESH:C567515",
          "OMIM:611818",
          "UMLS:C2678485"
        ],
        "synonyms": [
          "CAV3 long QT syndrome",
          "LQT9",
          "long QT syndrome 9",
          "long QT syndrome caused by mutation in CAV3",
          "long QT syndrome type 9",
          "long QT syndrome 2/9, digenic",
          "long QT syndrome 9, acquired, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012736"
    },
    {
      "id": 13777,
      "label": "long QT syndrome 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110651",
          "GARD:0010436",
          "MEDGEN:394836",
          "MESH:C567514",
          "OMIM:611819",
          "UMLS:C2678484"
        ],
        "synonyms": [
          "LQT10",
          "SCN4B long QT syndrome",
          "long QT syndrome 10",
          "long QT syndrome caused by mutation in SCN4B",
          "long QT syndrome type 10",
          "atrial fibrillation, familial, 17"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012737"
    },
    {
      "id": 13778,
      "label": "long QT syndrome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110652",
          "GARD:0010437",
          "MEDGEN:437218",
          "MESH:C567513",
          "OMIM:611820",
          "UMLS:C2678483"
        ],
        "synonyms": [
          "AKAP9 long QT syndrome",
          "LQT11",
          "long QT syndrome 11",
          "long QT syndrome caused by mutation in AKAP9",
          "long QT syndrome type 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012738"
    },
    {
      "id": 14100,
      "label": "long QT syndrome 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110653",
          "GARD:0015595",
          "MEDGEN:442824",
          "MESH:C567842",
          "OMIM:612955",
          "UMLS:C2751830"
        ],
        "synonyms": [
          "LQT12",
          "SNTA1 long QT syndrome",
          "long QT syndrome 12",
          "long QT syndrome caused by mutation in SNTA1",
          "long QT syndrome type 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013062"
    },
    {
      "id": 14314,
      "label": "long QT syndrome 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110654",
          "GARD:0015666",
          "MEDGEN:462083",
          "OMIM:613485",
          "UMLS:C3150733"
        ],
        "synonyms": [
          "KCNJ5 long QT syndrome",
          "LQT13",
          "long QT syndrome 13",
          "long QT syndrome caused by mutation in KCNJ5",
          "long QT syndrome type 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013279"
    },
    {
      "id": 14400,
      "label": "long QT syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110645",
          "GARD:0003285",
          "HGNC:6251",
          "MEDGEN:462293",
          "MESH:C563614",
          "NCIT:C137957",
          "OMIM:613688",
          "UMLS:C3150943"
        ],
        "synonyms": [
          "LQT2",
          "Long QT syndrome, acquired, reduced susceptibility to",
          "long QT syndrome 2",
          "long QT syndrome type 2",
          "long QT syndrome 1/2, digenic",
          "long QT syndrome 2, acquired, susceptibility to",
          "long QT syndrome 2/3, digenic",
          "long QT syndrome 2/5, digenic",
          "long QT syndrome 2/9, digenic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013367"
    },
    {
      "id": 14403,
      "label": "long QT syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110648",
          "GARD:0010434",
          "HGNC:6242",
          "MEDGEN:462303",
          "MESH:C566333",
          "OMIM:613693",
          "UMLS:C3150953"
        ],
        "synonyms": [
          "KCNE2 long QT syndrome",
          "LQT6",
          "long QT syndrome 6",
          "long QT syndrome caused by mutation in KCNE2",
          "long QT syndrome type 6",
          "long QT syndrome 3/6, digenic",
          "long QT syndrome 6, acquired, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013370"
    },
    {
      "id": 14405,
      "label": "long QT syndrome 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110647",
          "GARD:0010433",
          "HGNC:6240",
          "MEDGEN:358092",
          "MESH:C566766",
          "NCIT:C172094",
          "OMIM:613695",
          "UMLS:C1867904"
        ],
        "synonyms": [
          "KCNE1 long QT syndrome",
          "LQT5",
          "long QT syndrome 5",
          "long QT syndrome caused by mutation in KCNE1",
          "long QT syndrome type 5",
          "long QT syndrome 2/5, digenic",
          "long QT syndrome 5, acquired, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0013372"
    },
    {
      "id": 15547,
      "label": "long QT syndrome 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110655",
          "GARD:0016073",
          "MEDGEN:864108",
          "NCIT:C177534",
          "OMIM:616247",
          "UMLS:C4015671"
        ],
        "synonyms": [
          "CALM1 long QT syndrome",
          "LQT14",
          "long QT syndrome 14",
          "long QT syndrome caused by mutation in CALM1",
          "long QT syndrome type 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014548"
    },
    {
      "id": 15549,
      "label": "long QT syndrome 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110656",
          "GARD:0016074",
          "MEDGEN:864132",
          "OMIM:616249",
          "UMLS:C4015695"
        ],
        "synonyms": [
          "CALM2 long QT syndrome",
          "LQT15",
          "long QT syndrome 15",
          "long QT syndrome caused by mutation in CALM2",
          "long QT syndrome type 15"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014550"
    },
    {
      "id": 22414,
      "label": "long QT syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046,
        24701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110649",
          "GARD:0025735",
          "OMIM:618447"
        ],
        "synonyms": [
          "LONG QT SYNDROME 8",
          "LQT8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032756"
    },
    {
      "id": 22567,
      "label": "long QT syndrome 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18166,
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070533",
          "GARD:0025773",
          "MEDGEN:1713991",
          "OMIM:618782",
          "UMLS:C5394068"
        ],
        "synonyms": [
          "long QT syndrome 16",
          "LQT16",
          "Ventricular Tachycardia, Catecholaminergic Polymorphic 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032915"
    },
    {
      "id": 24052,
      "label": "long QT syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110644",
          "GARD:0026140",
          "MEDGEN:1641146",
          "MedDRA:10039211",
          "NCIT:C85049",
          "OMIM:192500",
          "SCTID:20852007",
          "UMLS:C4551647"
        ],
        "synonyms": [
          "LQT1",
          "long QT syndrome 1",
          "long QT syndrome type 1",
          "ventricular fibrillation with prolonged QT interval",
          "long QT syndrome 1, acquired, susceptibility to",
          "long QT syndrome 1/2, digenic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100316"
    },
    {
      "id": 24924,
      "label": "long QT syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026501",
          "MEDGEN:331449",
          "UMLS:C1833154"
        ],
        "synonyms": [
          "LQT4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800323"
    }
  ],
  "roots": [
    {
      "id": 4527,
      "label": "long QT syndrome"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}