{
  "id": 29219,
  "label": "hyperinsulinemic hypoglycemia with polycystic kidney disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1030000",
  "properties": {
    "xrefs": [
      "GARD:0027111"
    ],
    "synonyms": [
      "HIPKD"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7419,
      "label": "hyperinsulinemic hypoglycemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875,
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13317",
          "EFO:0007318",
          "GARD:0021849",
          "HP:0000825",
          "MEDGEN:351247",
          "NANDO:2100143",
          "NANDO:2200399",
          "OMIMPS:256450",
          "Orphanet:443095",
          "SCTID:42681006",
          "UMLS:C1864903"
        ],
        "synonyms": [
          "hyperinsulinemia hypoglycemia",
          "hyperinsulinemic hypoglycemia (disease)",
          "nesidioblastosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11."
      },
      "child_count": 10,
      "reference_id": "MONDO:0005803"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7419,
      "label": "hyperinsulinemic hypoglycemia"
    }
  ]
}