{
  "id": 19777,
  "label": "congenital anomaly of the great arteries",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020292",
  "properties": {
    "xrefs": [
      "GARD:0019556",
      "MEDGEN:798768",
      "MedDRA:10061080",
      "Orphanet:98724",
      "UMLS:C0948632"
    ],
    "synonyms": [
      "congenital aorta, aortic arch or pulmonary arteries anomaly"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "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": 10264,
      "label": "aortic arch interruption",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000740",
          "ICD10CM:Q25.21",
          "ICD9:745.11",
          "MEDGEN:57773",
          "MedDRA:10022599",
          "NANDO:2200288",
          "Orphanet:2299",
          "UMLS:C0152419",
          "icd11.foundation:1769930414"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009010"
    },
    {
      "id": 16127,
      "label": "aortic arch defects",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000741",
          "MEDGEN:1842770",
          "Orphanet:1132",
          "UMLS:C5680872"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren."
      },
      "child_count": 7,
      "reference_id": "MONDO:0015236"
    },
    {
      "id": 16441,
      "label": "idiopathic pulmonary artery dilatation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19777,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006757",
          "MEDGEN:1842555",
          "Orphanet:1676",
          "UMLS:C1384816"
        ],
        "synonyms": [
          "idiopathic dilatation of the pulmonary artery"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015664"
    },
    {
      "id": 16632,
      "label": "scimitar syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17943,
        19777,
        24336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001167",
          "GARD:0018680",
          "ICD9:747.49",
          "MEDGEN:20675",
          "MESH:D012587",
          "MedDRA:10051951",
          "NCIT:C85056",
          "Orphanet:185",
          "SCTID:39905002",
          "UMLS:C0036400",
          "icd11.foundation:1321054364"
        ],
        "synonyms": [
          "Epibronchial right pulmonary vein syndrome",
          "Halasz syndrome",
          "congenital pulmonary venolobar syndrome",
          "hypogenetic lung syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015987"
    },
    {
      "id": 17960,
      "label": "fixed subaortic stenosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016619",
          "MEDGEN:539538",
          "Orphanet:3092",
          "UMLS:C0265853",
          "icd11.foundation:1471062257"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017727"
    },
    {
      "id": 18079,
      "label": "congenital pulmonary veins atresia or stenosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004598",
          "MEDGEN:1826176",
          "NANDO:1200964",
          "NANDO:2200273",
          "Orphanet:3188",
          "SCTID:234062003",
          "UMLS:C5680865",
          "icd11.foundation:469101490"
        ],
        "synonyms": [
          "pulmonary vein stenosis",
          "pulmonary veins stenosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects."
      },
      "child_count": 1,
      "reference_id": "MONDO:0017864"
    },
    {
      "id": 18080,
      "label": "congenital pulmonary valve stenosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016623",
          "ICD10CM:Q22.1",
          "MEDGEN:511533",
          "MedDRA:10037451",
          "Orphanet:3189",
          "UMLS:C0162164",
          "icd11.foundation:353180069"
        ],
        "synonyms": [
          "heart valve pulmonary stenosis",
          "valvar pulmonary stenosis",
          "valvate pulmonary stenosis",
          "valvular pulmonary stenosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017865"
    },
    {
      "id": 18242,
      "label": "aorto-ventricular tunnel",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018798",
          "HP:0011627",
          "MEDGEN:868852",
          "MESH:D000082903",
          "Orphanet:3400",
          "UMLS:C4023262",
          "icd11.foundation:470594532"
        ],
        "synonyms": [
          "aorto-ventricular tunnel",
          "aorto-ventricular tunnel (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018082"
    },
    {
      "id": 19560,
      "label": "aneurysm or dilatation of ascending aorta",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:95484"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019821"
    },
    {
      "id": 19561,
      "label": "premature closure of the arterial duct",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019271",
          "MEDGEN:759377",
          "Orphanet:95486",
          "UMLS:C3532264"
        ],
        "synonyms": [
          "premature closure of the patent ductus arteriosus"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019823"
    },
    {
      "id": 19707,
      "label": "absence of the pulmonary artery",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2933,
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018712",
          "MEDGEN:120560",
          "NANDO:2200282",
          "Orphanet:980",
          "SCTID:86252004",
          "UMLS:C0265905",
          "icd11.foundation:542905766"
        ],
        "synonyms": [
          "UAPA",
          "agenesis of pulmonary artery",
          "aplasia of pulmonary artery",
          "pulmonary artery absent",
          "pulmonary artery agenesis",
          "unilateral pulmonary artery absence",
          "unilateral pulmonary artery agenesis",
          "congenital absence of pulmonary artery"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020007"
    },
    {
      "id": 19871,
      "label": "congenital patent ductus arteriosus aneurysm",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019634",
          "MEDGEN:1646456",
          "Orphanet:99072",
          "SCTID:763316006",
          "UMLS:C4706391"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020412"
    },
    {
      "id": 19878,
      "label": "pulmonary artery hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019642",
          "HP:0004971",
          "MEDGEN:75585",
          "Orphanet:99083",
          "SCTID:54682008",
          "UMLS:C0265910"
        ],
        "synonyms": [
          "pulmonary artery hypoplasia",
          "pulmonary artery hypoplasia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020419"
    },
    {
      "id": 19879,
      "label": "pulmonary branch stenosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004589",
          "MEDGEN:758898",
          "NCIT:C99144",
          "Orphanet:99084",
          "UMLS:C3531782"
        ],
        "synonyms": [
          "branch pulmonary artery stenosis",
          "pulmonary artery stenosis, branch (not PPS)",
          "peripheral pulmonary stenosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Narrowing of the lumen of the right or left pulmonary artery branch."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020420"
    },
    {
      "id": 25674,
      "label": "primary pulmonary vein stenosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026829",
          "MEDGEN:539576",
          "Orphanet:642071",
          "UMLS:C0265915"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957433"
    }
  ],
  "roots": [
    {
      "id": 19327,
      "label": "congenital heart malformation"
    }
  ]
}