01
CNDP2
No data
Diseases
Crigler-Najjar Syndrome, Type I
crigler-najjar syndrome, type i
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Crigler-Najjar Syndrome, Type I
- Standard Disease Name
- crigler-najjar syndrome, type i
- MeSH Tree
- No data
- ICD-10
- E80.5
Identifiers
- DO ID
- No data
- MeSH ID
- D003414
- OMIM ID
- 218800
- UMLS ID
- C0010324
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare autosomal recessive inherited syndrome characterized by abnormalities in the metabolism of bilirubin. It results in the development of jaundice. It may cause brain damage in infancy.|MSH2017_2016_08_12:A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.
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Related Targets
target disease8 Targets