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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
Primary Angle-Closure Glaucoma
Alias:
Primary Angle Closure Glaucoma
Prodromal Angle Closure Glaucoma
Acg - [angle Closure Glaucoma]
Angle Closure Glaucoma
Angle-Closure Glaucoma
Closed Angle Glaucoma
Acute Glaucoma
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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
原发性闭角型青光眼,也称为原发性闭角型青光眼,与间歇性闭角型青光眼和慢性闭角型青光眼有关,症状包括进行性周边视力丧失。与原发性闭角型青光眼相关的重要基因是MYOC(Myocilin)。在该疾病的背景下提到了药物Pilocarpine和Travoprost。附属组织包括眼睛和内皮,相关表型是视力/眼睛。
Related ID:
MALACARDS:PRM024
ICD11:559190357
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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25
161
--
PRM024
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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