{
  "id": 17528,
  "label": "diazoxide-resistant hyperinsulinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017186",
  "properties": {
    "xrefs": [
      "GARD:0021055",
      "MEDGEN:1842507",
      "Orphanet:276585",
      "UMLS:C5679778"
    ],
    "synonyms": [
      "diazoxide-resistant hyperinsulinemic hypoglycemia"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": [
    {
      "id": 16412,
      "label": "diazoxide-resistant diffuse hyperinsulinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17528
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020068",
          "MEDGEN:1843355",
          "Orphanet:165988",
          "UMLS:C5679569"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015625"
    },
    {
      "id": 19126,
      "label": "diazoxide-resistant focal hyperinsulinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17528
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018983",
          "MEDGEN:1843436",
          "Orphanet:79298",
          "UMLS:C5680204"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia, diazoxide-resistant focal form"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019265"
    }
  ],
  "roots": [
    {
      "id": 18925,
      "label": "congenital isolated hyperinsulinism"
    }
  ]
}