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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
Deafness, Autosomal Recessive 55 (DFNB55)
Alias:
Autosomal Recessive Nonsyndromic Deafness 55
Dfnb55
Autosomal Recessive Deafness 55
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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
先天性聋,常染色体隐性55型,又称常染色体隐性非综合征性聋55型,与常染色体隐性聋和脊髓小脑性共济失调8型有关。与先天性聋,常染色体隐性55型有关的重要基因是DFNB55(先天性聋,常染色体隐性55型)。相关表型为听力障碍和视网膜形态异常。
Related ID:
MALACARDS:DFN030
OMIM:609952
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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9
335
1
DFN030
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
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No data available
Gene & Mutation
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Gene
Function
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Mutations
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Name
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No data available
Disease Model
Category
Name
MGI
Related Gene
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No Data Found!
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