DiseaseID 4252

Rotor综合征

disease

MSH2017_2016_08_12:A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolize

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Disease: 1Symptom: 2Target: 12Links: 14
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Record Fields

Scalar fields from the final disease record.

Disease Id
4252
Core Entity Id
60573
Source Entity Count
1
Preferred Name
Rotor Syndrome
Name Cn
Rotor综合征
Name Pinyin
Rotor Zong He Zheng
Name En
Rotor Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms
Do Class
genetic disease; disease of metabolism
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms
Hpo Class Name
Do Class Name
disease of metabolism; genetic disease
Disease Definition
MSH2017_2016_08_12:A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine.|CSP2006:pathologic process consisting of an abnormal increase in the amount of bilirubin in the circulating blood, which may result in jaundice.
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Rotor Syndrome
Role
preferred
Name
Hyperbilirubinemia
Role
preferred
Name
Hyperbilirubinemia, Hereditary
Role
preferred
Name
Jaundice, Chronic Idiopathic
Role
preferred
Name
Bilirubin Metabolic Disorder
Role
alias
Name
Dubin-Johnson Syndrome
Role
alias
Name
Hyperbilirubinemia, Rotor Type
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS001419HBDIS001420HBDIS001584HBDIS004541
Me Sh
D006932D006933D007566
Omim
237450237500
Umls
C0020433C0020435
Sym Map
SMDE05010SMDE09589SMDE09590
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0020433C0020435C0022350C0220991
Umls Sty
T047
Me Sh Class
C16C18C23
Tcmbank Disease
187522227123703293733944
Itcmdb Generated
ITX-DISEASE-2E9BD0F84FB1ITX-DISEASE-35F94ACD39DF

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2v2
Suppress
01
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Link Disease Id
2022.0
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
MSH2017_2016_08_12:A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine.|CSP2006:pathologic process consisting of an abnormal increase in the amount of bilirubin in the circulating blood, which may result in jaundice.NCI2016_02D: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.|MSH2017_2016_08_12:Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.|CSP2006:inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms
Umls Semantic Type Name
Disease or Syndrome