{
  "id": 17524,
  "label": "familial hyperinsulinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017182",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4302,
      "label": "hyperinsulinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4104,
        4915
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2018",
          "HP:0000842",
          "ICD9:251.1",
          "MEDGEN:43779",
          "MESH:D006946",
          "SCTID:83469008",
          "UMLS:C0020459",
          "icd11.foundation:224022886"
        ],
        "synonyms": [
          "hyperinsulinism",
          "hyperinsulinism (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Abnormally high levels of insulin in the blood."
      },
      "child_count": 2,
      "reference_id": "MONDO:0002177"
    },
    {
      "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": 13432,
      "label": "hyperinsulinism due to INSR deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17524
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070220",
          "GARD:0017256",
          "MEDGEN:355335",
          "MESH:C566494",
          "OMIM:609968",
          "Orphanet:263458",
          "SCTID:721235003",
          "UMLS:C1864952"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia due to INSR deficiency",
          "hyperinsulinemic hypoglycemia due to insulin receptor deficiency",
          "hyperinsulinemic hypoglycemia, familial, type 5",
          "HHF5",
          "hyperinsulinemic hypoglycemia, familial, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012381"
    },
    {
      "id": 17531,
      "label": "adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17524
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021056",
          "MEDGEN:907576",
          "Orphanet:276608",
          "SCTID:717044000",
          "UMLS:C4274082"
        ],
        "synonyms": [
          "NI-PHH"
        ],
        "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 hyperinsulinism 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": 0,
      "reference_id": "MONDO:0017189"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4302,
      "label": "hyperinsulinism"
    },
    {
      "id": 7419,
      "label": "hyperinsulinemic hypoglycemia"
    }
  ]
}