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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
Dysautonomia-Like Disorder
Alias:
Dysautonomia Like Disorder
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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
自主神经障碍样障碍,也称为自主神经障碍样障碍,与神经病变、遗传性感觉和自主神经、类型III和自主神经障碍有关。在该障碍的背景下提到了布比卡因和麻醉药。相关的表型是智力障碍和自主神经系统生理异常。
Related ID:
MALACARDS:DYS194
OMIM:224000
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
DYS194
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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