{
  "id": 12806,
  "label": "gastrointestinal stromal tumor",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011719",
  "properties": {
    "xrefs": [
      "DOID:9253",
      "GARD:0008598",
      "ICD10CM:C49.A",
      "ICDO:8936/1",
      "MEDGEN:116049",
      "MESH:D046152",
      "MedDRA:10051066",
      "NCIT:C3868",
      "NORD:1174",
      "OMIM:606764",
      "ONCOTREE:GIST",
      "Orphanet:44890",
      "SCTID:420120006",
      "UMLS:C0238198"
    ],
    "synonyms": [
      "GIST",
      "Gastrointestinal Stromal Tumors",
      "gastrointestinal stromal neoplasm",
      "gastrointestinal stromal sarcoma",
      "gastrointestinal stromal tumor",
      "gastrointestinal stromal tumor (gist)",
      "gastrointestinal stromal tumor, familial, isolated cases",
      "gastrointestinal stromal tumor, isolated cases",
      "gastrointestinal stromal tumour (gist)",
      "gist",
      "gastrointestinal stromal tumors",
      "gastrointestinal stromal tumours"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 18539,
      "label": "mesenchymal tumor of small intestine",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021761",
          "MEDGEN:1843104",
          "Orphanet:423798",
          "UMLS:C5680077"
        ],
        "synonyms": [
          "mesenchymal tumor of small bowel",
          "mesenchymal tumour of small bowel"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0018506"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18539,
      "label": "mesenchymal tumor of small intestine"
    }
  ]
}