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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
Retinal Detachment
Alias:
Rhegmatogenous Retinal Detachment
Ruptured Retina with Detachment
Retinal Hole with Detachment
Retinal Detachments
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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
视网膜脱离,也称为视网膜裂孔,与玻璃体视网膜病变、新生血管炎性及持续性增生性原始玻璃体有关,为常染色体隐性遗传病。与视网膜脱离相关的基因包括COL2A1(胶原蛋白IIα1链),其相关通路/超级通路包括信号转导和ERK信号通路。在该疾病的背景下提到了药物咪达唑仑和芬太尼。相关组织包括视网膜和眼睛,相关表型为神经系统和色素沉着。
Related ID:
MALACARDS:RTN017
OMIM:180050
MESH:D012163
ICD11:2059145710
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
60
798
3
RTN017
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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