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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
Congenital Myopathy 7b, Myosin Storage, Autosomal Recessive (CMYP7B)
Alias:
Myopathy, Myosin Storage, Autosomal Recessive
Msmb
Myopathy, Hyaline Body, Autosomal Recessive
Cmyp7b
Autosomal Recessive Myosin Storage Myopathy
Autosomal Recessive Hyaline Body Myopathy
Congenital Myopathy 7b
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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7b,肌球蛋白储存,常染色体隐性,也称为肌病,肌球蛋白储存,常染色体显性,与先天性肌病7a,肌球蛋白储存,常染色体显性和肌病有关。与先天性肌病7b,肌球蛋白储存,常染色体隐性相关的基因是MYH7(肌球蛋白重链7)。相关组织包括骨骼肌和肺,相关表型为脊柱侧凸和矮小。
Related ID:
MALACARDS:CNG639
OMIM:255160
MESH:D009135
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
8
12
CNG639
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
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Publications
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References Literature
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No Data Found!
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