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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
Inguinal Hernia
Alias:
Indirect Inguinal Hernia
Oblique Inguinal Hernia
Direct Inguinal Hernia
Ih - [inguinal Hernia]
Hernia, Inguinal
Inguinal Hernias
Hernia Inguinal
Scrotal Hernia
Bubonocele
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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
腹股沟疝,又称为间接腹股沟疝,与持续性穆勒氏管综合征和松弛性皮肤,常染色体隐性,类型IA有关。与腹股沟疝相关的基因是EFEMP1(富含EGF的纤维蛋白外周矩阵蛋白1),其相关通路/超级通路包括整合素通路和磷脂酶C通路。在该疾病的背景下提到了药物加巴喷丁和羟考酮。附属组织包括结肠和肝脏,相关表型为shRNA丰度增加(Z分数> 2)和稳态/新陈代谢
Related ID:
MALACARDS:ING001
MESH:D006552
ICD11:474718032
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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61
581
--
ING001
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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