{
  "id": 24336,
  "label": "syndromic congenital heart disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100614",
  "properties": {
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 7116,
      "label": "congenital heart disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6967,
        21294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1682",
          "EFO:0005207",
          "ICD9:746.84",
          "ICD9:746.89",
          "ICD9:746.9",
          "MEDGEN:57501",
          "MESH:D006330",
          "NCIT:C95834",
          "SCTID:13213009",
          "UMLS:C0152021",
          "icd11.foundation:2004408087"
        ],
        "synonyms": [
          "heart malformation",
          "congenital anomaly of heart",
          "congenital heart defect",
          "congenital heart defects",
          "Abnormality, heart",
          "abnormalities, heart",
          "defect, congenital heart",
          "defects, congenital heart",
          "heart abnormalities",
          "heart abnormality",
          "heart defect, congenital",
          "heart, malformation Of"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale."
      },
      "child_count": 46,
      "reference_id": "MONDO:0005453"
    }
  ],
  "children": [
    {
      "id": 6680,
      "label": "hypoplastic left heart syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7229,
        19559,
        24272,
        24336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9955",
          "GARD:0006739",
          "ICD10CM:Q23.4",
          "ICD9:746.7",
          "MEDGEN:57746",
          "MESH:D018636",
          "MedDRA:10021076",
          "NANDO:1200705",
          "NANDO:2100071",
          "NANDO:2200249",
          "NCIT:C98894",
          "NORD:1277",
          "OMIMPS:241550",
          "Orphanet:2248",
          "SCTID:62067003",
          "UMLS:C0152101",
          "icd11.foundation:1811800027"
        ],
        "synonyms": [
          "HLHS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis."
      },
      "child_count": 8,
      "reference_id": "MONDO:0004933"
    },
    {
      "id": 9517,
      "label": "Char syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12908,
        16088,
        24336,
        26520
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060563",
          "GARD:0001237",
          "ICD9:759.89",
          "MEDGEN:358356",
          "MESH:C566815",
          "OMIM:169100",
          "Orphanet:46627",
          "SCTID:703534001",
          "UMLS:C1868570"
        ],
        "synonyms": [
          "Char syndrome",
          "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits",
          "CHAR",
          "CHAR syndrome",
          "Char",
          "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008209"
    },
    {
      "id": 16439,
      "label": "dextrocardia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668,
        24272,
        24336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9565",
          "GARD:0001827",
          "HP:0001651",
          "ICD10CM:Q24.0",
          "ICD9:746.87",
          "MEDGEN:4255",
          "MESH:D003914",
          "MedDRA:10012592",
          "NCIT:C84669",
          "Orphanet:1666",
          "SCTID:27637000",
          "UMLS:C0011813",
          "icd11.foundation:1472687600"
        ],
        "synonyms": [
          "dextrocardia",
          "dextrocardia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015661"
    },
    {
      "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": 18829,
      "label": "left ventricular noncompaction",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3007,
        6933,
        24336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060480",
          "GARD:0010985",
          "MEDGEN:450531",
          "NANDO:2200231",
          "NCIT:C99544",
          "OMIMPS:604169",
          "Orphanet:54260",
          "UMLS:C1960469"
        ],
        "synonyms": [
          "LVNC",
          "Lv non-compaction syndrome",
          "left ventricular hypertrabeculation",
          "left ventricular non-compaction cardiomyopathy",
          "left ventricular non-compaction syndrome",
          "left ventricular noncompaction (disease)",
          "spongy myocardium"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events."
      },
      "child_count": 39,
      "reference_id": "MONDO:0018901"
    },
    {
      "id": 19894,
      "label": "atrial septal defect, coronary sinus type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8134,
        24336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010697",
          "ICD9:746.89",
          "MEDGEN:488986",
          "Orphanet:99104",
          "SCTID:40272001",
          "UMLS:C2063331",
          "icd11.foundation:664625334",
          "icd11.foundation:800577917"
        ],
        "synonyms": [
          "ASD, coronary sinus type",
          "atrial septal defect coronary sinus",
          "unroofed coronary sinus",
          "ASD coronary sinus",
          "coronary sinus atrial septal defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020435"
    },
    {
      "id": 29323,
      "label": "NOTCH1-related AOS spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        24272,
        24336
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects)."
      },
      "child_count": 6,
      "reference_id": "MONDO:1060150"
    },
    {
      "id": 29355,
      "label": "congenital heart disease with heterotaxy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24336
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "congenital heart disease with heterotaxy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heart disease that is present at birth that occurs with variable extracardiac laterality defects. Features of visceral heterotaxy are not always present but can include abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060197"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7116,
      "label": "congenital heart disease"
    }
  ]
}