{
  "id": 16412,
  "label": "diazoxide-resistant diffuse hyperinsulinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015625",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17528,
      "label": "diazoxide-resistant hyperinsulinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18925
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017186"
    }
  ],
  "children": [
    {
      "id": 19173,
      "label": "autosomal recessive hyperinsulinism due to SUR1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10946,
        16412
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016726",
          "MEDGEN:1683144",
          "Orphanet:79643",
          "UMLS:C5191077"
        ],
        "synonyms": [
          "autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019333"
    },
    {
      "id": 19174,
      "label": "autosomal recessive hyperinsulinism due to Kir6.2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12275,
        16412
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016727",
          "MEDGEN:1677653",
          "Orphanet:79644",
          "UMLS:C5191078"
        ],
        "synonyms": [
          "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019334"
    }
  ],
  "roots": [
    {
      "id": 17528,
      "label": "diazoxide-resistant hyperinsulinism"
    }
  ]
}