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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
Congenital Myopathy 21 with Early Respiratory Failure (CMYP21)
Alias:
Cmyp21
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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
先天性肌病21伴有早期呼吸衰竭,也称为cmyp21。与先天性肌病21伴有早期呼吸衰竭有关的重要基因是DNAJB4(DNAJ热休克蛋白家族(Hsp40)成员B4)。相关组织包括骨骼肌和大脑,相关表型包括腹股沟疝和宫内发育迟缓。
Related ID:
MALACARDS:CNG665
OMIM:620326
MESH:D020914
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
6
2
CNG665
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Name
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Phase
No data available
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Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
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IF
No Data Found!
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