{
  "id": 24507,
  "label": "heterotaxy, visceral, 5, autosomal",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700112",
  "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."
  },
  "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"
    }
  ]
}