{
  "id": 18668,
  "label": "visceral heterotaxy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018677",
  "properties": {
    "xrefs": [
      "DOID:0050545",
      "GARD:0010875",
      "MEDGEN:465273",
      "MedDRA:10059119",
      "MedDRA:10067265",
      "NCIT:C117273",
      "OMIMPS:306955",
      "Orphanet:157769",
      "Orphanet:450",
      "SCTID:14821001",
      "UMLS:C3178805",
      "icd11.foundation:780273165"
    ],
    "synonyms": [
      "heterotaxia",
      "heterotaxia syndrome",
      "heterotaxy syndrome",
      "heterotaxy, visceral",
      "incomplete situs inversus",
      "lateralization defect",
      "partial situs inversus",
      "situs ambiguous",
      "situs ambiguus",
      "visceral heterotaxy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 19,
  "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": 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": 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": 10099,
      "label": "right atrial isomerism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060856",
          "GARD:0006795",
          "HP:0011536",
          "MEDGEN:465274",
          "MedDRA:10068335",
          "NORD:1305",
          "OMIM:208530",
          "Orphanet:97548",
          "UMLS:C3178806"
        ],
        "synonyms": [
          "Ivemark Syndrome",
          "Ivemark syndrome",
          "asplenia with cardiovascular anomalies",
          "right atrial isomerism",
          "right atrial isomerism (disease)",
          "right atrial isomerism (ivemark)",
          "Polyasplenia",
          "RAI",
          "Vah, autosomal recessive",
          "asplenia syndrome",
          "bilateral right-sidedness sequence",
          "heterotaxy, Visceroatrial, autosomal recessive",
          "polysplenia syndrome",
          "right isomerism",
          "splenic agenesis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008832"
    },
    {
      "id": 11223,
      "label": "situs inversus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:758",
          "GARD:0004883",
          "HP:0001696",
          "ICD10CM:Q89.3",
          "ICD9:759.3",
          "ICD9:759.89",
          "MEDGEN:1642262",
          "MESH:D012857",
          "NCIT:C87121",
          "Orphanet:101063",
          "SCTID:24614000",
          "UMLS:C4551493",
          "icd11.foundation:797648408"
        ],
        "synonyms": [
          "complete situs inversus",
          "complete situs inversus viscerum",
          "complete transposition (morphologic abnormality)",
          "situs inversus",
          "situs inversus totalis",
          "situs inversus totalis (disease)",
          "situs ambiguus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)."
      },
      "child_count": 1,
      "reference_id": "MONDO:0010029"
    },
    {
      "id": 11756,
      "label": "heterotaxy, visceral, 1, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051016",
          "GARD:0008591",
          "MEDGEN:336609",
          "MESH:C538116",
          "OMIM:306955",
          "UMLS:C1844020"
        ],
        "synonyms": [
          "ZIC3 visceral heterotaxy",
          "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive",
          "heterotaxy, visceral, 1, X-linked",
          "heterotaxy, visceral, 1, X-linked, X-linked recessive",
          "visceral heterotaxy caused by mutation in ZIC3",
          "HTX1",
          "X-linked visceral heterotaxy 1",
          "congenital heart defects, multiple types, 1, X-linked",
          "dextrocardia with Other Cardiac malformations",
          "heterotaxy, visceral, X-linked",
          "laterality, X-linked",
          "situs inversus, Complex Cardiac defects, and splenic defects, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010607"
    },
    {
      "id": 12118,
      "label": "laterality defects, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003198",
          "MEDGEN:322042",
          "MESH:C563391",
          "OMIM:601086",
          "UMLS:C1832813"
        ],
        "synonyms": [
          "laterality defects, autosomal dominant",
          "laterality defects dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010991"
    },
    {
      "id": 12643,
      "label": "heterotaxy, visceral, 2, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2746,
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051017",
          "GARD:0024805",
          "MEDGEN:237904",
          "OMIM:605376",
          "UMLS:C1415817"
        ],
        "synonyms": [
          "DTGA2",
          "heterotaxy, visceral, 2, autosomal",
          "transposition of the great arteries, dextro-looped 2",
          "HTX2",
          "Htx"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011546"
    },
    {
      "id": 12751,
      "label": "heterotaxy, visceral, 3, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051018",
          "GARD:0024815",
          "MEDGEN:339983",
          "MESH:C565237",
          "OMIM:606325",
          "UMLS:C1853444"
        ],
        "synonyms": [
          "HTX3",
          "heterotaxy, visceral, 3, autosomal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011659"
    },
    {
      "id": 14435,
      "label": "heterotaxy, visceral, 4, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051019",
          "GARD:0024918",
          "MEDGEN:462407",
          "OMIM:613751",
          "UMLS:C3151057"
        ],
        "synonyms": [
          "ACVR2B visceral heterotaxy",
          "heterotaxy, visceral, 4, autosomal",
          "visceral heterotaxy caused by mutation in ACVR2B",
          "HTX4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013403"
    },
    {
      "id": 14899,
      "label": "heterotaxy, visceral, 6, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051020",
          "GARD:0024961",
          "MEDGEN:766590",
          "OMIM:614779",
          "UMLS:C3553676"
        ],
        "synonyms": [
          "heterotaxy, visceral, 6, autosomal",
          "heterotaxy, visceral, 6, autosomal recessive",
          "HTX6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013887"
    },
    {
      "id": 15752,
      "label": "heterotaxy, visceral, 7, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051021",
          "GARD:0025014",
          "MEDGEN:902629",
          "OMIM:616749",
          "UMLS:C4225217"
        ],
        "synonyms": [
          "HTX7",
          "MMP21 visceral heterotaxy",
          "heterotaxy, visceral, 7, autosomal",
          "heterotaxy, visceral, 7, autosomal; HTX7",
          "visceral heterotaxy caused by mutation in MMP21"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014762"
    },
    {
      "id": 15945,
      "label": "heterotaxy, visceral, 8, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051022",
          "GARD:0025041",
          "MEDGEN:934635",
          "OMIM:617205",
          "UMLS:C4310668"
        ],
        "synonyms": [
          "HTX8",
          "PKD1L1 visceral heterotaxy",
          "heterotaxy, visceral, 8, autosomal",
          "heterotaxy, visceral, 8, autosomal; HTX8",
          "visceral heterotaxy caused by mutation in PKD1L1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014967"
    },
    {
      "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": 19585,
      "label": "levocardia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012032",
          "ICD10CM:Q24.1",
          "MEDGEN:7331",
          "MESH:D007979",
          "MedDRA:10071015",
          "NCIT:C111647",
          "Orphanet:95854",
          "SCTID:205769006",
          "UMLS:C0023569",
          "icd11.foundation:848076902"
        ],
        "synonyms": [
          "levocardia-situs inversus",
          "Isolated levocardia with situs inversus",
          "Situs inversus with levocardia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019862"
    },
    {
      "id": 21845,
      "label": "heterotaxy, visceral, 9, autosomal, with male infertility",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051023",
          "GARD:0025522",
          "MEDGEN:1717772",
          "OMIM:618948",
          "UMLS:C5394551"
        ],
        "synonyms": [
          "HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY",
          "HTX9",
          "heterotaxy, visceral, 9, autosomal, with male infertility"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030070"
    },
    {
      "id": 21935,
      "label": "heterotaxy, visceral, 10, autosomal, with male infertility",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051024",
          "GARD:0025573",
          "MEDGEN:1794282",
          "OMIM:619607",
          "UMLS:C5562072"
        ],
        "synonyms": [
          "HTX10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030474"
    },
    {
      "id": 21936,
      "label": "heterotaxy, visceral, 11, autosomal, with male infertility",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051025",
          "GARD:0025574",
          "MEDGEN:1794229",
          "OMIM:619608",
          "UMLS:C5562019"
        ],
        "synonyms": [
          "HTX11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030475"
    },
    {
      "id": 24507,
      "label": "heterotaxy, visceral, 5, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026361",
          "MEDGEN:501198",
          "OMIM:270100",
          "UMLS:C3495537"
        ],
        "synonyms": [
          "HTX5",
          "NODAL visceral heterotaxy",
          "SIV",
          "situs inversus viscerum",
          "visceral heterotaxy caused by mutation in NODAL"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700112"
    },
    {
      "id": 25365,
      "label": "heterotaxy, visceral, 12, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051026",
          "GARD:0026669",
          "MEDGEN:1803695",
          "OMIM:619702",
          "UMLS:C5676898"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859222"
    },
    {
      "id": 26190,
      "label": "heterotaxy, visceral, 13, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051027",
          "GARD:0027429",
          "MEDGEN:1875137",
          "OMIM:621079",
          "UMLS:C5975607"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976134"
    },
    {
      "id": 26191,
      "label": "heterotaxy, visceral, 14, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18668
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061123",
          "GARD:0027430",
          "MEDGEN:1875141",
          "OMIM:621080",
          "UMLS:C5975611"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976135"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19327,
      "label": "congenital heart malformation"
    }
  ]
}