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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
Night Blindness, Congenital Stationary, Type 1d (CSNB1D)
Alias:
Congenital Stationary Night Blindness 1d
Csnb1d
Night Blindness, Congenital Stationary , 1d, Autosomal Recessive
Congenital Stationary Night Blindness 1d Autosomal Recessive
Blindness, Night, Stationary, Congenital, Type 1d
Night Blindness, Congenital Stationary, 1d
Csnb, Complete, Autosomal Recessive
Complete Autosomal Recessive Csnb
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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
夜盲症,先天性固定型,1型,也称为先天性固定型夜盲症1型,与夜盲症,先天性固定型,1型b和夜盲症,先天性固定型,1型c有关。与夜盲症,先天性固定型,1型d有关的重要基因是SLC24A1(溶质载体家族24成员1),其相关通路/超级通路包括视网膜棒状细胞的视觉循环。相关表型为先天性固定型夜盲症和色素性视网膜病变。
Related ID:
MALACARDS:NGH028
OMIM:613830
MESH:D009755
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
7
45
2
NGH028
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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