loading...| Preferred Name |
Crigler-Najjar syndrome |
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| Synonyms |
Crigler Najjar syndrome Crigler-Najjar syndrome bilirubin UDP glucuronyl transferase deficiency bilirubin-UGT deficiency bilirubin uridinediphosphate glucuronosyltransferase deficiency hereditary unconjugated hyperbilirubinemia UGT deficiency Crigler Najjar Syndrome |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009044 |
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| closeMatch | ||
| database_cross_reference |
SCTID:28259009 NORD:1016 MESH:D003414 ICD10CM:E80.5 DOID:3803 Orphanet:205 NCIT:C84656 MedDRA:10011386 UMLS:C5551003 icd11.foundation:291439191 GARD:16526 |
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| 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. |
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| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_205 http://linkedlifedata.com/resource/umls/id/C5551003 http://purl.obolibrary.org/obo/NCIT_C84656 http://purl.obolibrary.org/obo/DOID_3803 http://identifiers.org/snomedct/28259009 |
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| has characteristic | ||
| has_exact_synonym |
Crigler Najjar syndrome Crigler-Najjar syndrome bilirubin UDP glucuronyl transferase deficiency bilirubin-UGT deficiency bilirubin uridinediphosphate glucuronosyltransferase deficiency hereditary unconjugated hyperbilirubinemia UGT deficiency Crigler Najjar Syndrome |
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| id |
MONDO:0009044 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
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| label |
Crigler-Najjar syndrome |
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| notation |
MONDO:0009044 |
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| prefLabel |
Crigler-Najjar syndrome |
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| treeView | ||
| subClassOf |