{
  "id": 18925,
  "label": "congenital isolated hyperinsulinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019010",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 9170,
      "label": "islet cell adenomatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4104,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:293643",
          "MESH:C563258",
          "NCIT:C4375",
          "OMIM:147630",
          "SCTID:274944000",
          "UMLS:C1578917"
        ],
        "synonyms": [
          "islet cell adenomatosis",
          "INSDM",
          "INSULINOMATOSIS and diabetes mellitus",
          "Insulinomatosis and diabetes mellitus",
          "nesidioblastosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia."
      },
      "child_count": 2,
      "reference_id": "MONDO:0007834"
    },
    {
      "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": 19480,
      "label": "overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019213",
          "MEDGEN:458929",
          "NCIT:C94828",
          "Orphanet:93460",
          "UMLS:C2986703",
          "icd11.foundation:2113355045"
        ],
        "definition": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
      },
      "child_count": 31,
      "reference_id": "MONDO:0019716"
    }
  ],
  "children": [
    {
      "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": 12356,
      "label": "hyperinsulinemic hypoglycemia, familial, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17928,
        18925
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070216",
          "GARD:0002818",
          "MEDGEN:355435",
          "MESH:C538374",
          "OMIM:602485",
          "Orphanet:79299",
          "SCTID:717182006",
          "UMLS:C1865290"
        ],
        "synonyms": [
          "GCK-related hyperinsulinism",
          "HHF3",
          "congenital glucokinase-related hyperinsulinism",
          "glucokinase-related hyperinsulinemic hypoglycemia",
          "hyperinsulinemic hypoglycemia due to glucokinase deficiency",
          "hyperinsulinemic hypoglycemia familial 3",
          "hyperinsulinemic hypoglycemia, familial, 3",
          "hyperinsulinemic hypoglycemia, familial, type 3",
          "hyperinsulinism due to glucokinase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A form of diffuse hyperinsulinism due to glucokinase hyperactivity associated with a variation in the GCK gene, and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011236"
    },
    {
      "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"
    },
    {
      "id": 17528,
      "label": "diazoxide-resistant hyperinsulinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18925
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021055",
          "MEDGEN:1842507",
          "Orphanet:276585",
          "UMLS:C5679778"
        ],
        "synonyms": [
          "diazoxide-resistant hyperinsulinemic hypoglycemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017186"
    }
  ],
  "roots": [
    {
      "id": 9170,
      "label": "islet cell adenomatosis"
    },
    {
      "id": 17524,
      "label": "familial hyperinsulinism"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    }
  ]
}