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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
Congenital Primary Megaureter
Alias:
Congenital Primary Megalo-Ureter
Congenital Dilatation of Ureter
Congenital Ureteral Dilatation
Congenital Megaloureter
Congenital Megaureter
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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
先天性原发性巨输尿管,又称先天性原发性巨尿管,是先天性巨输尿管和先天性原发性巨输尿管的关联,非反流性和无阻塞形式。附属组织包括肾脏,相关表型包括肾积水和上尿路异常
Related ID:
MALACARDS:CNG326
ICD11:566805920
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
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CNG326
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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