{
  "id": 17529,
  "label": "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017187",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10946,
      "label": "hyperinsulinemic hypoglycemia, familial, 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7419
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070219",
          "GARD:0024690",
          "MEDGEN:419505",
          "OMIM:256450",
          "SCTID:360339005",
          "UMLS:C2931832"
        ],
        "synonyms": [
          "ABCC8 hyperinsulinemic hypoglycemia (disease)",
          "hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8",
          "hyperinsulinemic hypoglycemia due to SUR1 deficiency",
          "hyperinsulinemic hypoglycemia, familial, 1",
          "hyperinsulinemic hypoglycemia, familial, type 1",
          "HHF1",
          "Nesidioblastosis of pancreas",
          "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia",
          "hyperinsulinism, congenital",
          "hyperinsulinism, familial, with pancreatic Nesidioblastosis",
          "hypoglycemia, hyperinsulinemic, of infancy",
          "persistent hyperinsulinemic hypoglycemia of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009734"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10946,
      "label": "hyperinsulinemic hypoglycemia, familial, 1"
    },
    {
      "id": 19126,
      "label": "diazoxide-resistant focal hyperinsulinism"
    }
  ]
}