{
  "id": 10099,
  "label": "right atrial isomerism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008832",
  "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."
  },
  "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"
    }
  ]
}