{
  "id": 10946,
  "label": "hyperinsulinemic hypoglycemia, familial, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009734",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 17529,
      "label": "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10946,
        19126
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017187"
    },
    {
      "id": 19173,
      "label": "autosomal recessive hyperinsulinism due to SUR1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10946,
        16412
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016726",
          "MEDGEN:1683144",
          "Orphanet:79643",
          "UMLS:C5191077"
        ],
        "synonyms": [
          "autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019333"
    }
  ],
  "roots": [
    {
      "id": 7419,
      "label": "hyperinsulinemic hypoglycemia"
    }
  ]
}