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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
罕见病
Dubin-Johnson Syndrome (DJS)
Alias:
Jaundice, Chronic Idiopathic
Hyperbilirubinemia Type 2
Sprinz-Nelson Syndrome
Dubin-Sprinz Disease
Djs
Hyperbilirubinemia, Dubin-Johnson Type
Chronic Idiopathic Jaundice
Hyperbilirubinemia Ii
Chronic Idiopathic Jaundice with Pigmented Liver
Djs - [dubin-Johnson Syndrome]
Black Liver-Jaundice Syndrome
Conjugated Hyperbilirubinemia
Hyperbilirubinaemia Type 2
Dubin Johnson Syndrome
Dubin-Sprinz Syndrome
Hblrdj
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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
杜宾-约翰逊综合症,又称慢性特发性黄疸,与高胆红素血症、罗特型和吉尔伯特综合症有关,症状包括黄疸和黄疸(非新生儿)。与杜宾-约翰逊综合症有关的重要基因是ABCC2(ATP结合盒家族C成员2),其相关通路/超级通路包括无机离子/氨基酸/寡肽的代谢和运输。在该疾病的背景下提到了保护剂和胆红素药物。附属组织包括肝脏和皮肤,相关表型为肝脏异常和黄疸。
Related ID:
MALACARDS:DBN001
OMIM:237500
MESH:D007566
ICD11:1691610999
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
青少年
--
24
152
30
DBN001
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
Title
PMID
Journal
Year
IF
No Data Found!
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