{
  "id": 16411,
  "label": "diazoxide-sensitive diffuse hyperinsulinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015624",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 12804,
      "label": "hyperinsulinism-hyperammonemia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16411,
        24857
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070217",
          "GARD:0009931",
          "MEDGEN:376153",
          "MESH:C538375",
          "NCIT:C131832",
          "OMIM:606762",
          "Orphanet:35878",
          "UMLS:C1847555"
        ],
        "synonyms": [
          "GDH hyperinsulinism",
          "GLUD1 hyperinsulinism",
          "glutamate dehydrogenase 1 hyperinsulinism",
          "hi/HA syndrome",
          "hyperinsulinemic hypoglycemia, familial, type 6",
          "hyperinsulinism-hyperammonemia syndrome",
          "hyperinsulinism/hyperammonemia syndrome",
          "HA/hi syndrome",
          "HHF6",
          "hyperinsulinemic hypoglycemia familial 6",
          "hyperinsulinemic hypoglycemia, familial, 6",
          "hyperinsulinism hyperammonemia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011717"
    },
    {
      "id": 13433,
      "label": "hyperinsulinemic hypoglycemia, familial, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070215",
          "GARD:0009870",
          "MEDGEN:400646",
          "MESH:C566493",
          "OMIM:609975",
          "Orphanet:71212",
          "SCTID:721236002",
          "UMLS:C1864948"
        ],
        "synonyms": [
          "HADH hyperinsulinemic hypoglycemia (disease)",
          "hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH",
          "hyperinsulinemic hypoglycemia due to HADH deficiency",
          "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency",
          "hyperinsulinemic hypoglycemia, familial, 4",
          "hyperinsulinemic hypoglycemia, familial, type 4",
          "hyperinsulinism due to SCHAD deficiency",
          "hyperinsulinism due to glutamodehydrogenase deficiency",
          "hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency",
          "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency",
          "3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency",
          "3-alpha hydroxyacyl-CoA dehydrogenase deficiency",
          "3-hydroxyacyl-CoA dehydrogenase deficiency",
          "3-hydroxyacyl-Coenzyme A dehydrogenase deficiency",
          "3-hydroxylacyl-CoA dehydrogenase deficiency",
          "HADH deficiency",
          "HADHSC deficiency",
          "HHF4",
          "L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency",
          "M-SCHAD deficiency",
          "M/SCHAD",
          "SCHAD deficiency",
          "SCHAD deficiency, formerly",
          "had deficiency",
          "medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency"
        ],
        "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 HADH gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012382"
    },
    {
      "id": 13447,
      "label": "exercise-induced hyperinsulinism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16411,
        17944
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070214",
          "GARD:0009932",
          "MEDGEN:351246",
          "MESH:C538376",
          "NCIT:C131839",
          "OMIM:610021",
          "Orphanet:165991",
          "SCTID:715830008",
          "UMLS:C1864902",
          "icd11.foundation:999935139"
        ],
        "synonyms": [
          "EIHI",
          "MCT1 hyperinsulinism",
          "exercise-induced hyperinsulinemic hypoglycemia",
          "hyperinsulinemic hypoglycemia, familial, type 7",
          "hyperinsulinism due to SLC16A1 deficiency",
          "hyperinsulinism due to monocarboxylate transporter 1 deficiency",
          "monocarboxylate transporter 1 hyperinsulinism",
          "HHF7",
          "exercise induced hyperinsulinemic hypoglycemia",
          "hyperinsulinemic hypoglycemia exercise-induced",
          "hyperinsulinemic hypoglycemia familial 7",
          "hyperinsulinemic hypoglycemia, exercise-induced",
          "hyperinsulinemic hypoglycemia, familial, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012396"
    },
    {
      "id": 17400,
      "label": "hyperinsulinism due to HNF4A deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020903",
          "MEDGEN:894506",
          "Orphanet:263455",
          "SCTID:717048002",
          "UMLS:C4274078"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia due to HNF4A deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016988"
    },
    {
      "id": 17525,
      "label": "hyperinsulinism due to UCP2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021054",
          "MEDGEN:928751",
          "Orphanet:276556",
          "SCTID:721834007",
          "UMLS:C4303082"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia due to UCP2 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017183"
    },
    {
      "id": 17526,
      "label": "autosomal dominant hyperinsulinism due to SUR1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017283",
          "MEDGEN:900764",
          "Orphanet:276575",
          "SCTID:717046003",
          "UMLS:C4274080"
        ],
        "synonyms": [
          "autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017184"
    },
    {
      "id": 17527,
      "label": "autosomal dominant hyperinsulinism due to Kir6.2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12275,
        16411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017284",
          "MEDGEN:903936",
          "Orphanet:276580",
          "SCTID:717045004",
          "UMLS:C4274081"
        ],
        "synonyms": [
          "autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency",
          "dominant KATP hyperinsulinism due to Kir6.2 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017185"
    },
    {
      "id": 18135,
      "label": "hyperinsulinism due to HNF1A deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021444",
          "MEDGEN:929144",
          "Orphanet:324575",
          "SCTID:721234004",
          "UMLS:C4303475"
        ],
        "synonyms": [
          "hyperinsulinemic hypoglycemia due to HNF1A deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017935"
    }
  ],
  "roots": [
    {
      "id": 18925,
      "label": "congenital isolated hyperinsulinism"
    }
  ]
}