{
  "id": 19126,
  "label": "diazoxide-resistant focal hyperinsulinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019265",
  "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."
  },
  "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": 17529,
      "label": "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10946,
        19126
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017285",
          "MEDGEN:1683284",
          "Orphanet:276598",
          "UMLS:C5191059"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017187"
    },
    {
      "id": 17530,
      "label": "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12275,
        19126
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017286",
          "MEDGEN:1673560",
          "Orphanet:276603",
          "UMLS:C5191060"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017188"
    }
  ],
  "roots": [
    {
      "id": 17528,
      "label": "diazoxide-resistant hyperinsulinism"
    }
  ]
}