{
  "id": 19311,
  "label": "progressive familial heart block",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019490",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3258,
      "label": "heart conduction disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6967
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10273",
          "ICD9:426.6",
          "SCTID:44808001"
        ],
        "synonyms": [
          "cardiac conduction disease",
          "cardiac conduction disorder",
          "conduction disease of heart",
          "disease of cardiac conduction",
          "disorder of cardiac conduction"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease that has its basis in the disruption of the heart's electrical conduction system."
      },
      "child_count": 10,
      "reference_id": "MONDO:0000992"
    },
    {
      "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": 9056,
      "label": "progressive familial heart block type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19311
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111075",
          "GARD:0004879",
          "ICD9:426.6",
          "MEDGEN:333884",
          "MESH:C564202",
          "OMIM:140400",
          "SCTID:698251009",
          "UMLS:C1841658"
        ],
        "synonyms": [
          "PFHB2",
          "PFHBII",
          "heart block progressive familial type 2",
          "progressive familial heart block type 2",
          "progressive familial heart block, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007701"
    },
    {
      "id": 12576,
      "label": "progressive familial heart block type IB",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19311
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111076",
          "GARD:0002610",
          "ICD9:426.6",
          "MEDGEN:370220",
          "MESH:C567037",
          "OMIM:604559",
          "SCTID:698250005",
          "UMLS:C1970298"
        ],
        "synonyms": [
          "PFHB1B",
          "TRPM4 progressive familial heart block",
          "progressive familial heart block caused by mutation in TRPM4",
          "Pfhbib",
          "heart block progressive familial type 1B",
          "progressive familial heart block type 1B",
          "progressive familial heart block, type 1B",
          "progressive familial heart block, type IB"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011474"
    }
  ],
  "roots": [
    {
      "id": 3258,
      "label": "heart conduction disease"
    },
    {
      "id": 26601,
      "label": "cardiogenetic rhythm disorder"
    }
  ]
}