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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
Deafness, Unilateral
Alias:
Unilateral Deafness
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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
耳聋,单侧,又称单侧耳聋,与耳聋,单侧,延迟内淋巴性积水和感音神经性听力损失有关。与单侧耳聋有关的重要基因是MIR9718(微小核糖核酸9718)。在该疾病的背景下提到了银磺胺嘧啶。附属组织包括骨和皮质,相关表型为单侧耳聋。
Related ID:
MALACARDS:DFN341
OMIM:125000
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
17
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DFN341
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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