{
  "id": 17530,
  "label": "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017188",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12275,
      "label": "hyperinsulinemic hypoglycemia, familial, 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18925
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070218",
          "GARD:0009927",
          "MEDGEN:419173",
          "OMIM:601820",
          "UMLS:C2931833"
        ],
        "synonyms": [
          "KCNJ11 hyperinsulinemic hypoglycemia (disease)",
          "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11",
          "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency",
          "hyperinsulinemic hypoglycemia, familial, 2",
          "hyperinsulinemic hypoglycemia, familial, type 2",
          "HHF2",
          "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia",
          "hyperinsulinemic hypoglycemia familial 2",
          "hyperinsulinemic hypoglycemia, persistent",
          "hyperinsulinism, congenital",
          "hyperinsulinism, familial",
          "hyperinsulinism, neonatal",
          "nesidioblastosis",
          "persistent hyperinsulinemic hypoglycemia of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011153"
    },
    {
      "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": 12275,
      "label": "hyperinsulinemic hypoglycemia, familial, 2"
    },
    {
      "id": 19126,
      "label": "diazoxide-resistant focal hyperinsulinism"
    }
  ]
}