{
  "id": 11882,
  "label": "pentalogy of Cantrell",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010742",
  "properties": {
    "xrefs": [
      "GARD:0007359",
      "ICD9:759.89",
      "MEDGEN:107540",
      "MESH:D058502",
      "NCIT:C99011",
      "NORD:1566",
      "OMIM:313850",
      "Orphanet:1335",
      "SCTID:281587000",
      "UMLS:C0559483"
    ],
    "synonyms": [
      "Cantrell deformity",
      "Cantrell syndrome",
      "pentalogy of Cantrell",
      "thoraco-abdominal syndrome",
      "Cantrell Haller Ravitsch syndrome",
      "Cantrell pentalogy",
      "Midline defects, X-linked",
      "THAS",
      "Tas",
      "thoracoabdominal syndrome"
    ],
    "definition": "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}