{
  "id": 12356,
  "label": "hyperinsulinemic hypoglycemia, familial, 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011236",
  "properties": {
    "xrefs": [
      "DOID:0070216",
      "GARD:0002818",
      "MEDGEN:355435",
      "MESH:C538374",
      "OMIM:602485",
      "Orphanet:79299",
      "SCTID:717182006",
      "UMLS:C1865290"
    ],
    "synonyms": [
      "GCK-related hyperinsulinism",
      "HHF3",
      "congenital glucokinase-related hyperinsulinism",
      "glucokinase-related hyperinsulinemic hypoglycemia",
      "hyperinsulinemic hypoglycemia due to glucokinase deficiency",
      "hyperinsulinemic hypoglycemia familial 3",
      "hyperinsulinemic hypoglycemia, familial, 3",
      "hyperinsulinemic hypoglycemia, familial, type 3",
      "hyperinsulinism due to glucokinase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A form of diffuse hyperinsulinism due to glucokinase hyperactivity associated with a variation in the GCK gene, and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17928,
      "label": "disorder of glycolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17229,
        19082,
        19115
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021306",
          "MEDGEN:1825948",
          "Orphanet:308459",
          "UMLS:C5681073"
        ]
      },
      "child_count": 48,
      "reference_id": "MONDO:0017688"
    },
    {
      "id": 18925,
      "label": "congenital isolated hyperinsulinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9170,
        17524,
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003947",
          "NCIT:C122923",
          "NORD:999",
          "Orphanet:657"
        ],
        "synonyms": [
          "Congenital Hyperinsulinism",
          "PHHI",
          "chi",
          "persistent hyperinsulinemic hypoglycemia of infancy",
          "congenital hyperinsulinism",
          "hyperinsulinemic hypoglycemia familial",
          "hyperinsulinism congenital",
          "hyperinsulinism familial with pancreatic nesidioblastosis",
          "hypoglycemia hyperinsulinemic of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019010"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17928,
      "label": "disorder of glycolysis"
    },
    {
      "id": 18925,
      "label": "congenital isolated hyperinsulinism"
    }
  ]
}