{
  "id": 19718,
  "label": "pulmonary valve agenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020064",
  "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"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17072,
      "label": "conotruncal heart malformations",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008189",
          "ICD9:747.11",
          "MEDGEN:341803",
          "NANDO:2200275",
          "OMIM:217095",
          "Orphanet:2445",
          "SCTID:218728005",
          "UMLS:C1857586"
        ],
        "synonyms": [
          "Taussig-Bing syndrome or defect",
          "conotruncal heart malformations",
          "conotruncal heart malformations, variable",
          "CTHM",
          "Double-outlet right ventricle",
          "conotruncal anomaly face syndrome",
          "conotruncal cardiac defects",
          "interrupted aortic Arch",
          "persistent truncus arteriosus",
          "truncus arteriosus communis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016581"
    }
  ],
  "children": [
    {
      "id": 16068,
      "label": "pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19718
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015103"
    },
    {
      "id": 19849,
      "label": "pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19718
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020389"
    }
  ],
  "roots": [
    {
      "id": 17072,
      "label": "conotruncal heart malformations"
    }
  ]
}