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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
Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization (MMERV)
Alias:
Mmerv
Encephalitis/encephalopathy, Mild, with Reversible Splenial Lesion
Mers
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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
轻度可逆髓鞘空泡化脑炎/脑病,也称为mmerv,与中东呼吸综合征和严重急性呼吸综合征有关。与轻度可逆髓鞘空泡化脑炎/脑病相关的基因是MYRF(髓鞘调节因子)。苯佐卡因和利托那韦已在该疾病的背景下被提及。附属组织包括大脑和眼睛,相关表型为癫痫和急性脑病。
Related ID:
MALACARDS:ENC065
OMIM:618113
MESH:D004660
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
7
3
ENC065
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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