{
  "id": 4526,
  "label": "Jervell and Lange-Nielsen syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002441",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 13911,
      "label": "Jervell and Lange-Nielsen syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4526,
        14405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010364",
          "MEDGEN:394108",
          "MESH:C567343",
          "OMIM:612347",
          "UMLS:C2676723"
        ],
        "synonyms": [
          "Jervell and Lange-Nielsen syndrome 2",
          "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1",
          "Jervell and Lange-Nielsen syndrome type 2",
          "KCNE1 Jervell and Lange-Nielsen syndrome",
          "JLNS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012871"
    },
    {
      "id": 21486,
      "label": "Jervell and Lange-Nielsen syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4526
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025421",
          "MEDGEN:1646925",
          "OMIM:220400",
          "UMLS:C4551509"
        ],
        "synonyms": [
          "Jervell and Lange-Nielsen syndrome",
          "Jervell and Lange-Nielsen syndrome 1",
          "Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1",
          "KCNQ1 Jervell and Lange-Nielsen syndrome",
          "Cardioauditory syndrome of Jervell and Lange-Nielsen",
          "JLNS1",
          "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": "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024540"
    }
  ],
  "roots": [
    {
      "id": 19046,
      "label": "familial long QT syndrome"
    }
  ]
}