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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
Chd2-Related Neurodevelopmental Disorders
Alias:
Epileptic Encephalopathy, Childhood-Onset
Chd2 Myoclonic Encephalopathy
Chd2 Encephalopathy
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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
Chd2-相关神经发育障碍,也被称为癫痫性脑病,儿童期发病,与光诱发阵发反应1和家族性噬血细胞淋巴组织细胞增多症1有关,症状包括癫痫发作、失神发作和肌阵挛发作。在该疾病的背景下提到了多巴胺和美金刚。附属组织包括大脑。
Related ID:
MALACARDS:CHD006
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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32
CHD006
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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