{
  "id": 10295,
  "label": "Crigler-Najjar syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009044",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 4498,
      "label": "hereditary hyperbilirubinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17982,
        21324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2741",
          "GARD:0023131",
          "MEDGEN:6963",
          "MESH:D006933",
          "NCIT:C84761",
          "OMIMPS:237450",
          "UMLS:C0020435"
        ],
        "synonyms": [
          "bilirubin metabolic disorder",
          "hyperbilirubinaemia",
          "hyperbilirubinemia",
          "hereditary hyperbilirubinemia"
        ],
        "definition": "An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome."
      },
      "child_count": 14,
      "reference_id": "MONDO:0002408"
    }
  ],
  "children": [
    {
      "id": 12812,
      "label": "Crigler-Najjar syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10295
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011725"
    },
    {
      "id": 20271,
      "label": "Crigler-Najjar syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000047",
          "MEDGEN:41346",
          "MedDRA:10057034",
          "OMIM:218800",
          "Orphanet:79234",
          "SCTID:8933000",
          "UMLS:C0010324",
          "icd11.foundation:1098453659"
        ],
        "synonyms": [
          "Crigler-Najjar syndrome, type 1",
          "Crigler-Najjar syndrome, type I",
          "UGT deficiency type 1",
          "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1",
          "bilirubin-UGT deficiency type 1",
          "hereditary unconjugated hyperbilirubinemia type 1",
          "hyperbilirubinemia, Crigler-Najjar type 1",
          "Crigler Najjar syndrome, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021020"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 4498,
      "label": "hereditary hyperbilirubinemia"
    }
  ]
}