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Metadata
DOID DOID:3803
Name Crigler-Najjar syndrome
Definition A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
http://emedicine.medscape.com/article/172858-overview#a0104, http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002114/
Xrefs

CSP2005:1654-1020

ICD10CM:E80.5

MESH:D003414

NCI:C84656

OMIM:218800

SNOMEDCT_US_2018_03_01:28259009

SNOMEDCT_US_2018_03_01:8933000

UMLS_CUI:C0010324

Subsets

NCIthesaurus

Synonyms

Bilirubin UDP glucuronyl transferase deficiency [EXACT]

Crigler Najjar syndrome [EXACT]

Crigler-Najjar syndrome, type I [EXACT]

Relationships

is_a bilirubin metabolic disorder

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