{
  "id": 18586,
  "label": "GCGR-related hyperglucagonemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018582",
  "properties": {
    "xrefs": [
      "DOID:0112306",
      "GARD:0010460",
      "MEDGEN:1677024",
      "OMIM:619290",
      "Orphanet:438274",
      "UMLS:C4763635"
    ],
    "synonyms": [
      "MVAH",
      "Mahvash disease",
      "alpha-cell hyperplasia with glucagonemia",
      "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor",
      "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour",
      "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor",
      "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus."
  },
  "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": 20285,
      "label": "pancreatic neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4455,
        20434
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003860",
          "MEDGEN:18279",
          "MESH:D010190",
          "NCIT:C3305",
          "ONCOTREE:PANCREAS",
          "SCTID:126859007",
          "UMLS:C0030297"
        ],
        "synonyms": [
          "neoplasm of pancreas",
          "neoplasm of the pancreas",
          "pancreas neoplasm",
          "pancreas neoplasm (disease)",
          "pancreas tumor",
          "pancreas tumour",
          "pancreatic neoplasm",
          "pancreatic tumor",
          "pancreatic tumour",
          "tumor of pancreas",
          "tumor of the pancreas",
          "tumour of pancreas",
          "tumour of the pancreas",
          "pancreas"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A benign or malignant neoplasm involving the pancreas."
      },
      "child_count": 14,
      "reference_id": "MONDO:0021040"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 20285,
      "label": "pancreatic neoplasm"
    }
  ]
}