{
  "id": 15945,
  "label": "heterotaxy, visceral, 8, autosomal",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014967",
  "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."
  },
  "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"
    }
  ]
}