{
  "id": 16176,
  "label": "intractable diarrhea-choanal atresia-eye anomalies syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015295",
  "properties": {
    "xrefs": [
      "GARD:0019882",
      "MEDGEN:929976",
      "Orphanet:137622",
      "UMLS:C4304307"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6756,
      "label": "intestinal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5295",
          "EFO:0009431",
          "ICD9:520-579",
          "ICD9:560-569",
          "ICD9:564",
          "ICD9:564.4",
          "ICD9:569",
          "ICD9:569.4",
          "ICD9:569.49",
          "ICD9:569.89",
          "ICD9:569.9",
          "ICD9:570-579",
          "ICD9:575",
          "MEDGEN:7130",
          "MESH:D007410",
          "NCIT:C26801",
          "SCTID:85919009",
          "UMLS:C0021831"
        ],
        "synonyms": [
          "disease of intestine",
          "disease or disorder of intestine",
          "disorder of intestine",
          "intestinal disease",
          "intestinal disorder",
          "intestine disease",
          "intestine disease or disorder",
          "disease, intestinal",
          "diseases, intestinal"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the small or large intestine."
      },
      "child_count": 58,
      "reference_id": "MONDO:0005020"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6756,
      "label": "intestinal disorder"
    }
  ]
}