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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
Cholestasis
Alias:
Obstruction of Bile Duct
Bile Duct Obstruction
Extrahepatic Bile Duct Obstruction
Extrahepatic Biliary Obstruction
Obstructive Hyperbilirubinemia
Cholestatic Jaundice Syndrome
Obstructed Biliary Ductal
Biliary Duct Obstruction
Bile Ductal Obstruction
Obstructed Biliary Duct
Obstructed Bile Ductal
Jaundice Regurgitation
Obstructive Jaundice
Cholestatic Jaundice
Bile Duct Obstructed
Obstructed Jaundice
Bile Occlusion
Biliary Stasis
Bile Stasis
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
胆汁淤积,也称为胆管阻塞,与妊娠3期胆汁淤积、良性复发性胆汁淤积2有关,症状包括黄疸和黄疸(新生儿除外)。与胆汁淤积有关的重要基因是USP53(泛素特异性肽酶53),其相关通路/超级通路包括代谢和核受体元通路。在该疾病的背景下提到了乳果糖和山梨醇。附属组织包括肝脏和胰腺,相关表型为稳态/代谢和肝脏/胆道系统。
Related ID:
MALACARDS:CHL068
MESH:D002779
ICD11:54922189
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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54
384
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CHL068
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
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IF
No Data Found!
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