{
  "id": 12812,
  "label": "Crigler-Najjar syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011725",
  "properties": {
    "xrefs": [
      "GARD:0008683",
      "MEDGEN:419718",
      "MESH:C536213",
      "MedDRA:10011387",
      "OMIM:606785",
      "Orphanet:79235",
      "SCTID:68067009",
      "UMLS:C2931132",
      "icd11.foundation:846453488"
    ],
    "synonyms": [
      "Arias syndrome",
      "UGT deficiency type 2",
      "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2",
      "bilirubin-UGT deficiency type 2",
      "hereditary unconjugated hyperbilirubinemia type 2",
      "Crigler Najjar syndrome, type 2",
      "Crigler-Najjar syndrome, type 2",
      "Crigler-Najjar syndrome, type II",
      "hyperbilirubinemia, Crigler-Najjar type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10295,
      "label": "Crigler-Najjar syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4498
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3803",
          "GARD:0016526",
          "ICD10CM:E80.5",
          "MEDGEN:1789261",
          "MESH:D003414",
          "MedDRA:10011386",
          "NANDO:2100272",
          "NANDO:2200941",
          "NCIT:C84656",
          "NORD:1016",
          "Orphanet:205",
          "SCTID:28259009",
          "UMLS:C5551003",
          "icd11.foundation:291439191"
        ],
        "synonyms": [
          "Crigler Najjar Syndrome",
          "Crigler-Najjar syndrome",
          "UGT deficiency",
          "bilirubin UDP glucuronyl transferase deficiency",
          "bilirubin uridinediphosphate glucuronosyltransferase deficiency",
          "bilirubin-UGT deficiency",
          "hereditary unconjugated hyperbilirubinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009044"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10295,
      "label": "Crigler-Najjar syndrome"
    }
  ]
}