Deafness, Autosomal Recessive 103 (DFNB103)

Alias:
Dfnb103
Autosomal Recessive Nonsyndromic Deafness 103
Autosomal Recessive Nonsyndromic Hearing Loss 103
Deafness, Autosomal Recessive, Type 103
Deafness, Autosomal Recessive, 103
Autosomal Recessive Deafness 103
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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103,也被称为dfnb103,与缺血性神经病变和先天性聋,常染色体隐性102有关。与先天性聋,常染色体隐性103有关的重要基因是CLIC5(氯离子细胞内通道5),其相关通路/超级通路包括声音感觉处理和肝ABC转运体。相关表型包括感觉神经性听力障碍和前庭无反应。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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8
46
2

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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