DiseaseID 26382
Crigler-Najjar综合征Ⅰ型
Crigler-Najjar Syndrome, Type I
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
Relationship Network
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Disease: 1Symptom: 8Target: 21Links: 32
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26382
- Core Entity Id
- 118950
- Source Entity Count
- 1
- Preferred Name
- Crigler-Najjar Syndrome, Type I
- Name Cn
- Crigler-Najjar综合征Ⅰ型
- Name Pinyin
- Crigler-najjar Zong He Zheng Ⅰ Xing
- Name En
- Crigler-Najjar Syndrome, Type I
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- 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.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Crigler-Najjar Syndrome, Type I
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0010324
Sym Map
SMDE03207
Etcm Disease
Crigler-Najjar Syndrome, Type I
Itcmdb Generated
ITX-DISEASE-A4F3DE5B6123
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Crigler-Najjar Syndrome, Type I Details page
Basic Information
Disease Name
Crigler-Najjar Syndrome, Type I
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Liver diseases;Neuronal diseases
Disease Definition
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.