{
  "id": 16158,
  "label": "partial atrioventricular canal",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015275",
  "properties": {
    "xrefs": [
      "GARD:0004229",
      "MEDGEN:868879",
      "MESH:C536112",
      "NANDO:2200268",
      "Orphanet:1330",
      "SCTID:718216009",
      "UMLS:C4023290"
    ],
    "synonyms": [
      "PAVC",
      "partial atrioventricular canal defect",
      "partial AVSD",
      "partial atrioventricular septal defects",
      "partial common atrioventricular canal"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19775,
      "label": "familial atrioventricular septal defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4221,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050651",
          "GARD:0000802",
          "ICD10CM:Q21.2",
          "ICD9:745.6",
          "ICD9:745.60",
          "ICD9:745.69",
          "NCIT:C101029",
          "NORD:821",
          "OMIMPS:606215",
          "Orphanet:98722",
          "SCTID:15459006"
        ],
        "synonyms": [
          "Atrioventricular Septal Defect",
          "AV septal defect",
          "AVCD",
          "AVSD",
          "ECD",
          "atrioventricular canal defect",
          "atrioventricular septal defect",
          "common AV canal",
          "common atrioventricular canal",
          "endocardial cushion defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020290"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19775,
      "label": "familial atrioventricular septal defect"
    }
  ]
}