{
  "id": 26602,
  "label": "SCN5A-related cardiac rhythm disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1010181",
  "properties": {
    "synonyms": [
      "SCN5A-related cardiac rhythm disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A heterogeneous collection of cardiac rhythm disorders caused by genetic variations in the SCN5A gene with autosomal dominant inheritance. Affected individuals are commonly reported to have unremarkable cardiac morphology and at least one cardiac rhythm phenotype that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, long QT syndrome, and Brugada syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 26601,
      "label": "cardiogenetic rhythm disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8666,
        24272
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "cardiogenetic rhythm disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any cardiac rhythm disorder with a monogenic etiology that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, Brugada syndrome, long QT syndrome, short QT syndrome, tachycardia with fibrillation."
      },
      "child_count": 18,
      "reference_id": "MONDO:1010180"
    }
  ],
  "children": [
    {
      "id": 8645,
      "label": "progressive familial heart block, type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7113,
        19311,
        26602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111074",
          "GARD:0001093",
          "MEDGEN:406301",
          "MESH:D002037",
          "NCIT:C126651",
          "OMIM:113900",
          "UMLS:C1879286"
        ],
        "synonyms": [
          "Lenegre's disease",
          "PFHB1A",
          "SCN5A progressive familial heart block",
          "heart block, progressive, type IA",
          "progressive familial heart block caused by mutation in SCN5A",
          "progressive familial heart block, type IA",
          "Cardiac conduction defect, nonprogressive",
          "Cardiac conduction defect, progressive",
          "Lenegre disease",
          "Lenegre's syndrome",
          "Lenegre-Lev disease",
          "Lev disease",
          "heart block progressive familial type 1",
          "heart block, nonprogressive",
          "heart block, progressive familial, type 1",
          "hereditary bundle branch system defect",
          "progressive familial heart block type 1A",
          "progressive familial heart block type IA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007240"
    },
    {
      "id": 12127,
      "label": "Brugada syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147,
        26602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110218",
          "GARD:0024766",
          "MEDGEN:1646402",
          "OMIM:601144",
          "UMLS:C4551804"
        ],
        "synonyms": [
          "BRGDA1",
          "Brugada syndrome 1",
          "Brugada syndrome caused by mutation in SCN5A",
          "Brugada syndrome type 1",
          "SCN5A Brugada syndrome",
          "Cardiac conduction defect, nonspecific",
          "right bundle branch block, St segment elevation, and sudden death syndrome",
          "sudden unexplained nocturnal death syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011001"
    },
    {
      "id": 12486,
      "label": "ventricular fibrillation, paroxysmal familial, type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23974,
        26602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024795",
          "MEDGEN:414502",
          "MESH:C567851",
          "OMIM:603829",
          "SCTID:233915000",
          "UMLS:C2751898"
        ],
        "synonyms": [
          "VF1",
          "ventricular fibrillation, familial, 1",
          "ventricular fibrillation, paroxysmal familial, 1",
          "ventricular fibrillation, paroxysmal familial, type 1",
          "IVF",
          "ventricular fibrillation during myocardial infarction, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011376"
    },
    {
      "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": 14559,
      "label": "atrial fibrillation, familial, 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18218,
        26602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015745",
          "MEDGEN:462814",
          "OMIM:614022",
          "UMLS:C3151464"
        ],
        "synonyms": [
          "SCN5A familial atrial fibrillation",
          "atrial fibrillation, familial, 10",
          "atrial fibrillation, familial, type 10",
          "familial atrial fibrillation caused by mutation in SCN5A",
          "ATFB10"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013530"
    },
    {
      "id": 21507,
      "label": "sick sinus syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13129,
        26602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025432",
          "MEDGEN:325270",
          "OMIM:608567",
          "UMLS:C1837845"
        ],
        "synonyms": [
          "SCN5A sick sinus syndrome",
          "sick sinus syndrome 1",
          "sick sinus syndrome caused by mutation in SCN5A",
          "SSS1",
          "sick sinus syndrome, congenital",
          "sinus bradycardia syndrome, familial",
          "sinus node disease, familial, autosomal recessive",
          "sinus rhythm, congenital absence of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024562"
    }
  ],
  "roots": [
    {
      "id": 26601,
      "label": "cardiogenetic rhythm disorder"
    }
  ]
}