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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
Macular Dystrophy, Patterned, 1 (MDPT1)
Alias:
Patterned Macular Dystrophy 1
Patterned Dystrophy of Retinal Pigment Epithelium
Mdpt1
Butterfly Dystrophy of Retinal Pigment Epithelium
Macular Dystrophy, Butterfly-Shaped Pigmentary
Butterfly-Shaped Pigmentary Maculary Dystrophy 1
Dystrophy, Macular, Patterned, Type 1
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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
黄斑变性,模式1,也称为模式黄斑变性1,与黄斑变性,模式2和模式黄斑变性有关。与黄斑变性,模式1相关的重要的基因是PRPH2(外周蛋白2)。附属组织包括视网膜,相关表型为畏光和夜盲症。
Related ID:
MALACARDS:MCL059
OMIM:169150
MESH:D058499
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
9
101
24
MCL059
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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