{
  "id": 8645,
  "label": "progressive familial heart block, type 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007240",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7113,
      "label": "conduction system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798,
        21552
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0005137",
          "MEDGEN:412576",
          "UMLS:C2748542"
        ],
        "synonyms": [
          "conducting system of heart disease",
          "conducting system of heart disease or disorder",
          "disease of conducting system of heart",
          "disease or disorder of conducting system of heart",
          "disorder of conducting system of heart"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease involving the conducting system of heart."
      },
      "child_count": 8,
      "reference_id": "MONDO:0005449"
    },
    {
      "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7113,
      "label": "conduction system disorder"
    },
    {
      "id": 19311,
      "label": "progressive familial heart block"
    },
    {
      "id": 26602,
      "label": "SCN5A-related cardiac rhythm disorder"
    }
  ]
}