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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
Alcohol-Related Neurodevelopmental Disorder (ARND)
Alias:
Static Encephalopathy
Alcohol Related Neurodevelopmental Disorder
Encephalopathy, Static
Arnd
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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
酒精相关神经发育障碍,也称为静态脑病,与脑铁积累神经退行性疾病和胎儿酒精综合症有关。与酒精相关神经发育障碍有关的重要基因是WDR45(WD重复域45),其相关通路/超级通路包括脆弱X综合症和自噬。在该疾病的背景下提到了乙醇和甘油。附属组织包括脑和眼,相关表型为行为/神经系统和视觉/眼。
Related ID:
MALACARDS:ALC002
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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21
181
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ALC002
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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