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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
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 (MMIHS2)
Alias:
Mmihs2
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Type 2
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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
巨结肠-小肠-肠肌无力综合征2,也被称为mmihs2。与巨结肠-小肠-肠肌无力综合征2相关的基因是MYH11(肌球蛋白重链11)。相关组织包括平滑肌,相关表型包括感觉神经性听力障碍和动脉导管未闭。
Related ID:
MALACARDS:MGC009
OMIM:619351
MESH:D007418
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
12
5
MGC009
Medical Symptom
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Categorization
Description
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No data available
Gene & Mutation
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No data available
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MGI
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Publications
No data available
References Literature
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No Data Found!
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