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。

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

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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