{
  "id": 26601,
  "label": "cardiogenetic rhythm disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1010180",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 8666,
      "label": "cardiac rhythm disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6967
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:427.9",
          "MEDGEN:2039",
          "NCIT:C2881",
          "SCTID:698247007",
          "UMLS:C0003811"
        ],
        "synonyms": [
          "arrhythmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart."
      },
      "child_count": 17,
      "reference_id": "MONDO:0007263"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [
    {
      "id": 2916,
      "label": "short QT syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3258,
        26601
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050793",
          "GARD:0016650",
          "ICD9:426.89",
          "MEDGEN:378835",
          "MESH:C580439",
          "NCIT:C71060",
          "NORD:2019",
          "OMIMPS:609620",
          "Orphanet:51083",
          "SCTID:698272007",
          "UMLS:C2348199",
          "icd11.foundation:553392015"
        ],
        "synonyms": [
          "short QT syndrome",
          "ventricular arrhythmia associated with short QT syndrome",
          "familial short QT syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified"
      },
      "child_count": 8,
      "reference_id": "MONDO:0000453"
    },
    {
      "id": 9929,
      "label": "ventricular tachycardia, familial",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7134,
        26601
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002263",
          "MEDGEN:83309",
          "OMIM:192605",
          "SCTID:233906007",
          "UMLS:C0340485"
        ],
        "synonyms": [
          "hereditary ventricular tachycardia",
          "ventricular tachycardia, familial",
          "ventricular tachycardia, idiopathic",
          "familial ventricular tachycardia",
          "ventricular tachycardia, familial polymorphic"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008648"
    },
    {
      "id": 13129,
      "label": "familial sick sinus syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4004,
        26601
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013663",
          "MEDGEN:573766",
          "MESH:C563907",
          "MedDRA:10040639",
          "OMIMPS:608567",
          "Orphanet:166282",
          "SCTID:233913007",
          "UMLS:C0340491",
          "icd11.foundation:1495462959"
        ],
        "synonyms": [
          "familial sinus node dysfunction",
          "hereditary sick sinus syndrome",
          "SSS1",
          "sick sinus syndrome 1, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients."
      },
      "child_count": 8,
      "reference_id": "MONDO:0012061"
    },
    {
      "id": 15499,
      "label": "atrial conduction disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7113,
        26601
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0005304",
          "GARD:0017729"
        ],
        "synonyms": [
          "CARDIAC conduction disease with or without dilated cardiomyopathy",
          "CCDD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014500"
    },
    {
      "id": 16147,
      "label": "Brugada syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3258,
        4370,
        26601
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050451",
          "GARD:0001030",
          "ICD9:746.89",
          "MEDGEN:222975",
          "MESH:D053840",
          "MedDRA:10059027",
          "NCIT:C142891",
          "NORD:878",
          "OMIMPS:601144",
          "Orphanet:130",
          "SCTID:418818005",
          "UMLS:C1142166",
          "icd11.foundation:1250136584"
        ],
        "synonyms": [
          "Brugada syndrome",
          "Brugada type idiopathic ventricular fibrillation",
          "idiopathic ventricular fibrillation, Brugada type",
          "right bundle branch block, ST segment elevation, and sudden death syndrome",
          "sudden unexplained nocturnal death syndrome",
          "sudden unexpected nocturnal death syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death."
      },
      "child_count": 27,
      "reference_id": "MONDO:0015263"
    },
    {
      "id": 18218,
      "label": "familial atrial fibrillation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6722,
        26601
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050650",
          "GARD:0009740",
          "MEDGEN:894635",
          "OMIMPS:608583",
          "Orphanet:334",
          "SCTID:715395008",
          "UMLS:C3468561",
          "icd11.foundation:45855978"
        ],
        "synonyms": [
          "hereditary atrial fibrillation (disease)",
          "atrial fibrillation autosomal dominant",
          "atrial fibrillation, familial",
          "autosomal dominant atrial fibrillation"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular."
      },
      "child_count": 36,
      "reference_id": "MONDO:0018054"
    },
    {
      "id": 19311,
      "label": "progressive familial heart block",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3258,
        26601
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111073",
          "GARD:0010005",
          "ICD9:426.6",
          "OMIMPS:113900",
          "Orphanet:871",
          "SCTID:698249005",
          "SCTID:93130009",
          "icd11.foundation:1762068981"
        ],
        "synonyms": [
          "familial Lenègre disease",
          "familial Lev-Lenègre disease",
          "familial progressive heart block",
          "hereditary bundle branch defect",
          "familial progressive cardiac conduction defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019490"
    },
    {
      "id": 23974,
      "label": "paroxysmal familial ventricular fibrillation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2763,
        26601
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004227",
          "MEDGEN:83310",
          "Orphanet:228140",
          "UMLS:C0340493"
        ],
        "synonyms": [
          "IVF",
          "idiopathic ventricular fibrillation",
          "idiopathic ventricular fibrillation, non Brugada type",
          "paroxysmal familial ventricular fibrillation",
          "paroxysmal familial ventricular fibrillation (disorder)",
          "paroxysmal ventricular fibrillation",
          "ventricular fibrillation, paroxysmal familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100234"
    },
    {
      "id": 26602,
      "label": "SCN5A-related cardiac rhythm disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        26601
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:1010181"
    }
  ],
  "roots": [
    {
      "id": 8666,
      "label": "cardiac rhythm disease"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}