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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
Myopia
Alias:
Near-Sightedness
Short-Sightedness
Nearsightedness
Nearsighted
Myopia, Susceptibility to
Close Sighted
Short-Sighted
Near Sighted
Near Vision
Myopic
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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
近视,也被称为近视,与退行性近视和夜盲症、先天性固定型、1a型有关,症状包括异视。与近视有关的重要基因是FBN1(胶原蛋白1),其相关通路/超级通路包括硫酸软骨素1介导的信号事件。在该疾病的背景下,已提到的药物包括普鲁卡因和氟美松。附属组织包括眼睛和视网膜。
Related ID:
MALACARDS:MYP006
MESH:D009216
ICD11:1666440799
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
151
1565
10
MYP006
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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