{
  "id": 14435,
  "label": "heterotaxy, visceral, 4, autosomal",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013403",
  "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."
  },
  "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"
    }
  ]
}