{
  "id": 17527,
  "label": "autosomal dominant hyperinsulinism due to Kir6.2 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017185",
  "properties": {
    "xrefs": [
      "GARD:0017284",
      "MEDGEN:903936",
      "Orphanet:276580",
      "SCTID:717045004",
      "UMLS:C4274081"
    ],
    "synonyms": [
      "autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency",
      "dominant KATP hyperinsulinism due to Kir6.2 deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)."
  },
  "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": 16411,
      "label": "diazoxide-sensitive diffuse hyperinsulinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18925
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020067",
          "MEDGEN:1842739",
          "Orphanet:165985",
          "UMLS:C5679570"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0015624"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12275,
      "label": "hyperinsulinemic hypoglycemia, familial, 2"
    },
    {
      "id": 16411,
      "label": "diazoxide-sensitive diffuse hyperinsulinism"
    }
  ]
}