{
  "id": 17072,
  "label": "conotruncal heart malformations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016581",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 19327,
      "label": "congenital heart malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0005269",
          "MEDGEN:1680993",
          "Orphanet:88991",
          "UMLS:C3649636"
        ],
        "synonyms": [
          "congenital heart malformation",
          "disorder of heart development",
          "heart development disease",
          "congenital non-syndromic heart malformation",
          "rare congenital non-syndromic heart malformation"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease that has its basis in the disruption of heart development."
      },
      "child_count": 26,
      "reference_id": "MONDO:0019512"
    }
  ],
  "children": [
    {
      "id": 9647,
      "label": "pulmonary atresia with ventricular septal defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        17072
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008343"
    },
    {
      "id": 9831,
      "label": "tetralogy of fallot",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7116,
        17072,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6419",
          "GARD:0002245",
          "ICD10CM:Q21.3",
          "ICD9:745.2",
          "MEDGEN:21498",
          "MESH:D013771",
          "MedDRA:10016193",
          "NANDO:1200709",
          "NANDO:2100075",
          "NANDO:2200254",
          "NCIT:C84505",
          "NORD:1764",
          "OMIM:187500",
          "Orphanet:3303",
          "SCTID:86299006",
          "UMLS:C0039685",
          "icd11.foundation:90973426"
        ],
        "synonyms": [
          "tetralogy of fallot",
          "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle",
          "Fallot tetralogy",
          "TOF",
          "tetralogy of FALLOT"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008542"
    },
    {
      "id": 16129,
      "label": "abnormal origin of the pulmonary artery",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018717",
          "MEDGEN:539573",
          "Orphanet:1138",
          "SCTID:68092007",
          "UMLS:C0265912",
          "icd11.foundation:953235173"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0015239"
    },
    {
      "id": 16706,
      "label": "congenital aortopulmonary window",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000738",
          "MEDGEN:419119",
          "MESH:C537782",
          "Orphanet:2037",
          "UMLS:C2931610",
          "icd11.foundation:1988278118"
        ],
        "synonyms": [
          "congenital aortopulmonary artery fistula",
          "congenital aortopulmonary septal defect",
          "aorta-pulmonary artery fistula",
          "aorto-pulmonary artery fistula",
          "aortopulmonary fistula"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016077"
    },
    {
      "id": 18235,
      "label": "persistent truncus arteriosus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7116,
        17072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016627",
          "ICD10CM:Q20.0",
          "MEDGEN:52867",
          "MESH:D014339",
          "NANDO:1200693",
          "NANDO:2200261",
          "NCIT:C98880",
          "NORD:1800",
          "Orphanet:3384",
          "UMLS:C0041207",
          "icd11.foundation:1832500366"
        ],
        "synonyms": [
          "TAC",
          "Truncus Arteriosus",
          "common aorticopulmonary trunk",
          "common arterial trunk",
          "common truncus arteriosus",
          "persistent truncus arteriosus",
          "persistent truncus arteriosus (disease)",
          "truncus arteriosus"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018072"
    },
    {
      "id": 18249,
      "label": "double outlet right ventricle",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4213,
        17072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6406",
          "GARD:0001908",
          "ICD10CM:Q20.1",
          "MEDGEN:41649",
          "MESH:D004310",
          "MedDRA:10013611",
          "NANDO:1200710",
          "NANDO:2100076",
          "NANDO:2200256",
          "NCIT:C98916",
          "Orphanet:3426",
          "SCTID:204299009",
          "UMLS:C0013069",
          "icd11.foundation:141717788"
        ],
        "synonyms": [
          "DORV",
          "double outlet right ventricle"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle."
      },
      "child_count": 10,
      "reference_id": "MONDO:0018089"
    },
    {
      "id": 18250,
      "label": "double outlet left ventricle",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001907",
          "HP:0011581",
          "ICD10CM:Q20.2",
          "ICD9:745.19",
          "MEDGEN:120558",
          "NANDO:2100077",
          "NANDO:2200257",
          "Orphanet:3427",
          "SCTID:7368005",
          "UMLS:C0265809",
          "icd11.foundation:2094997989"
        ],
        "synonyms": [
          "DOLV",
          "Double outlet left ventricle",
          "double outlet left ventricle (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018090"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 19327,
      "label": "congenital heart malformation"
    }
  ]
}