{
  "id": 11756,
  "label": "heterotaxy, visceral, 1, X-linked",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010607",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18668,
      "label": "visceral heterotaxy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        19327
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 57,
      "reference_id": "MONDO:0018677"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18668,
      "label": "visceral heterotaxy"
    }
  ]
}