{
  "id": 17526,
  "label": "autosomal dominant hyperinsulinism due to SUR1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017184",
  "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)."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16411,
      "label": "diazoxide-sensitive diffuse hyperinsulinism"
    }
  ]
}