{
  "id": 12804,
  "label": "hyperinsulinism-hyperammonemia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011717",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24857,
      "label": "urea cycle disorder or inherited hyperammonemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026463"
        ],
        "definition": "A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0800153"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16411,
      "label": "diazoxide-sensitive diffuse hyperinsulinism"
    },
    {
      "id": 24857,
      "label": "urea cycle disorder or inherited hyperammonemia"
    }
  ]
}