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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 91 (RP91)
Alias:
Rp91
Macular Dystrophy, Benign Concentric Annular, Formerly
Macular Dystrophy, Concentric Annular, Formerly
Macular Dystrophy, Benign Concentric Annular
Benign Concentric Annular Macular Dystrophy
Macular Dystrophy, Concentric Annular
Retinitis Pigmentosa, Type 91
Mcdca, Formerly
Bcamd, Formerly
Bcamd
Mcdca
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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
视网膜色素变性91,也称为rp91,与良性同心环状黄斑病和色盲有关。与视网膜色素变性91相关的基因是IMPG1(视网膜色素上皮细胞间质蛋白多糖1)。相关组织包括眼睛和骨骼,相关表型为黄斑病和色觉障碍。
Related ID:
MALACARDS:RTN237
OMIM:153870
MESH:D012174
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
--
4
35
7
RTN237
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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