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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
Retinitis Pigmentosa, Late-Adult Onset
Alias:
Late-Adult Onset Retinitis Pigmentosa
Retinitis Pigmentosa, 'senile'
Senile Retinitis Pigmentosa
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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
晚发性视网膜色素变性,也称为晚发性视网膜色素变性,与视网膜色素变性和视网膜炎有关。相关组织包括视网膜和眼睛,相关表型为杆-锥性营养不良。
Related ID:
MALACARDS:RTN206
OMIM:268025
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
--
--
3
RTN206
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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