{
  "id": 19849,
  "label": "pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020389",
  "properties": {
    "xrefs": [
      "GARD:0019618",
      "MEDGEN:1678560",
      "Orphanet:99048",
      "UMLS:C5191313"
    ],
    "synonyms": [
      "APV/PDA, non-Fallot type",
      "PVA/PDA, non-Fallot type",
      "absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome",
      "pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19718,
      "label": "pulmonary valve agenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004597",
          "MEDGEN:576671",
          "NANDO:2100095",
          "NANDO:2200280",
          "Orphanet:982",
          "SCTID:6996004",
          "UMLS:C0344983"
        ],
        "synonyms": [
          "PVA",
          "absent pulmonary valve syndrome",
          "congenital absence of the pulmonary valve",
          "pulmonary valves agenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424"
      },
      "child_count": 2,
      "reference_id": "MONDO:0020064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19718,
      "label": "pulmonary valve agenesis"
    }
  ]
}