{
  "id": 9647,
  "label": "pulmonary atresia with ventricular septal defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008343",
  "properties": {
    "xrefs": [
      "GARD:0004588",
      "MEDGEN:87492",
      "MESH:C562833",
      "NANDO:1200708",
      "NANDO:2200252",
      "NCIT:C99033",
      "OMIM:178370",
      "Orphanet:1207",
      "SCTID:253591008",
      "UMLS:C0344976"
    ],
    "synonyms": [
      "pulmonary atresia with ventricular septal defect",
      "pulmonary valve atresia with ventricular septal defect"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 17072,
      "label": "conotruncal heart malformations"
    }
  ]
}