{
  "id": 14220,
  "label": "congenital diarrhea 5 with tufting enteropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013184",
  "properties": {
    "xrefs": [
      "DOID:0060776",
      "GARD:0010630",
      "MEDGEN:413031",
      "MESH:C567703",
      "OMIM:613217",
      "Orphanet:92050",
      "SCTID:715669000",
      "UMLS:C2750737",
      "icd11.foundation:1536004957"
    ],
    "synonyms": [
      "DIAR5",
      "EPCAM secretory diarrhea",
      "EPCAM secretory diarrhoea",
      "IED",
      "congenital diarrhea 5 with tufting enteropathy",
      "congenital tufting enteropathy",
      "intestinal epithelial dysplasia",
      "secretory diarrhea caused by mutation in EPCAM",
      "secretory diarrhoea caused by mutation in EPCAM",
      "tufting enteropathy",
      "congenital enteropathy",
      "congenital familial intractable diarrhea with enterocytes assembly abnormalities",
      "congenital familial intractable diarrhoea with enterocytes assembly abnormalities",
      "diarrhea 5, with tufting enteropathy, congenital",
      "diarrhoea 5, with tufting enteropathy, congenital",
      "enteropathy, congenital tufting",
      "intestinal epithelial cell dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23521,
      "label": "congenital secretory diarrhea",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2794,
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:579.8",
          "MEDGEN:82757",
          "SCTID:25898005",
          "UMLS:C0267661"
        ],
        "synonyms": [
          "congenital secretory diarrhea"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0045032"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23521,
      "label": "congenital secretory diarrhea"
    }
  ]
}