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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
Ichthyosis, Congenital, Autosomal Recessive 9 (ARCI9)
Alias:
Autosomal Recessive Congenital Ichthyosis 9
Arci9
Ichthyosis, Congenital, Autosomal Recessive, Type 9
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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
先天性鱼鳞病9型,又称常染色体隐性先天性鱼鳞病9型,与常染色体隐性先天性鱼鳞病1型和威尔-马歇尔综合征4型有关。与先天性鱼鳞病9型相关的基因是CERS3(酰基鞘氨醇合成酶3),其相关通路/超级通路包括22q11.2拷贝数变异综合征。相关组织包括皮肤,相关表型为角化过度和少汗症。
Related ID:
MALACARDS:ICH048
OMIM:615023
MESH:D017490
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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12
90
9
ICH048
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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Gene
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No data available
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Name
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No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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