{
  "id": 17943,
  "label": "congenital pulmonary venous return anomaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017705",
  "properties": {
    "xrefs": [
      "GARD:0004599",
      "MEDGEN:539577",
      "Orphanet:3090",
      "UMLS:C0265916"
    ],
    "synonyms": [
      "congenital pulmonary venous connection anomaly",
      "APVR",
      "TAPVR",
      "TAPVR1",
      "anomalous pulmonary venous return",
      "pulmonary venous return anomaly",
      "scimitar anomaly",
      "scimitar syndrome",
      "total anomalous pulmonary venous return"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19778,
      "label": "congenital pulmonary veins anomaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7116
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019559",
          "MEDGEN:539575",
          "NCIT:C110942",
          "Orphanet:98729",
          "SCTID:111322000",
          "UMLS:C0265914"
        ],
        "synonyms": [
          "congenital anomaly of pulmonary veins",
          "pulmonary vein abnormality"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020295"
    }
  ],
  "children": [
    {
      "id": 8542,
      "label": "congenital total pulmonary venous return anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17943
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4297",
          "GARD:0016896",
          "ICD9:747.41",
          "MEDGEN:1648157",
          "NANDO:2200271",
          "NCIT:C98585",
          "OMIM:106700",
          "Orphanet:99125",
          "SCTID:111323005",
          "UMLS:C4551903",
          "icd11.foundation:1532925990"
        ],
        "synonyms": [
          "TAPVR",
          "total anomalous pulmonary venous return",
          "TAPVR1",
          "anomalous pulmonary Venous return",
          "scimitar anomaly",
          "scimitar syndrome",
          "total anomalous pulmonary VENOUS return 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007130"
    },
    {
      "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": 19912,
      "label": "congenital partial pulmonary venous return anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17943
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019665",
          "ICD10CM:Q26.3",
          "MEDGEN:450995",
          "NANDO:2200272",
          "NCIT:C99004",
          "Orphanet:99124",
          "SCTID:68237008",
          "UMLS:C0158634",
          "icd11.foundation:1041585584"
        ],
        "synonyms": [
          "Partial anomalous pulmonary Venous connection",
          "Partial anomalous pulmonary Venous return"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020453"
    }
  ],
  "roots": [
    {
      "id": 19778,
      "label": "congenital pulmonary veins anomaly"
    }
  ]
}