{
  "id": 16068,
  "label": "pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015103",
  "properties": {
    "xrefs": [
      "GARD:0019780",
      "MEDGEN:1644090",
      "Orphanet:101206",
      "UMLS:C4707896"
    ],
    "synonyms": [
      "APV/ADA, Fallot type",
      "PVA/ADA, Fallot type",
      "absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion."
  },
  "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"
    }
  ]
}