{
  "id": 12275,
  "label": "hyperinsulinemic hypoglycemia, familial, 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011153",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 18925,
      "label": "congenital isolated hyperinsulinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9170,
        17524,
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003947",
          "NCIT:C122923",
          "NORD:999",
          "Orphanet:657"
        ],
        "synonyms": [
          "Congenital Hyperinsulinism",
          "PHHI",
          "chi",
          "persistent hyperinsulinemic hypoglycemia of infancy",
          "congenital hyperinsulinism",
          "hyperinsulinemic hypoglycemia familial",
          "hyperinsulinism congenital",
          "hyperinsulinism familial with pancreatic nesidioblastosis",
          "hypoglycemia hyperinsulinemic of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019010"
    }
  ],
  "children": [
    {
      "id": 17527,
      "label": "autosomal dominant hyperinsulinism due to Kir6.2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12275,
        16411
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017185"
    },
    {
      "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"
    },
    {
      "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": 18925,
      "label": "congenital isolated hyperinsulinism"
    }
  ]
}