{
  "id": 7419,
  "label": "hyperinsulinemic hypoglycemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005803",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    },
    {
      "id": 19082,
      "label": "inborn carbohydrate metabolic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        22979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2978",
          "GARD:0018946",
          "ICD9:271.8",
          "MEDGEN:2825",
          "MESH:D002239",
          "MedDRA:10061023",
          "NANDO:2100164",
          "NCIT:C97089",
          "Orphanet:79161",
          "UMLS:C0007001"
        ],
        "synonyms": [
          "carbohydrate metabolism disorder",
          "inborn carbohydrate metabolic process disorder",
          "inborn error of carbohydrate metabolic process",
          "rare inborn error of carbohydrate metabolic process",
          "carbohydrate metabolic disorder",
          "disorder of carbohydrate metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process."
      },
      "child_count": 36,
      "reference_id": "MONDO:0019214"
    }
  ],
  "children": [
    {
      "id": 10946,
      "label": "hyperinsulinemic hypoglycemia, familial, 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7419
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009734"
    },
    {
      "id": 17524,
      "label": "familial hyperinsulinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4302,
        7419
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021053",
          "MEDGEN:854723",
          "NANDO:2100143",
          "NANDO:2200399",
          "NCIT:C131425",
          "Orphanet:276525",
          "UMLS:C3888018"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia",
          "FHI",
          "HHI",
          "congenital hyperinsulinism",
          "familial hyperinsulinemic hypoglycemia",
          "hereditary hyperinsulinism (disease)",
          "hyperinsulinemia of infancy",
          "neonatal hyperinsulinism",
          "nesidioblastosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017182"
    },
    {
      "id": 18506,
      "label": "insulin autoimmune syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2997,
        7419
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0040100",
          "GARD:0010808",
          "ICD9:279.49",
          "MEDGEN:678528",
          "Orphanet:411593",
          "SCTID:408539000",
          "UMLS:C0854359"
        ],
        "synonyms": [
          "Hirata disease",
          "insulin autoimmune hypoglycemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018465"
    },
    {
      "id": 25488,
      "label": "hyperinsulinemic hypoglycemia, familial, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7419
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081328",
          "GARD:0026716",
          "MEDGEN:1824072",
          "OMIM:620211",
          "UMLS:C5774299"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859362"
    },
    {
      "id": 29219,
      "label": "hyperinsulinemic hypoglycemia with polycystic kidney disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7419
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:1030000"
    }
  ],
  "roots": [
    {
      "id": 6875,
      "label": "endocrine system disorder"
    },
    {
      "id": 19082,
      "label": "inborn carbohydrate metabolic disorder"
    }
  ]
}