Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement (DFNB36)

Alias:
Deafness, Autosomal Recessive 36
Deafness, Neurosensory, Without Vestibular Involvement, Autosomal Dominant
Deafness, Autosomal Recessive 36, Without Vestibular Involvement
Deafness, Without Vestibular Involvement, Autosomal Dominant
Dfnb36
Deafness, Autosomal Recessive, Type 36, with/without Vestibular Involvement
Deafness, Autosomal Recessive, 36, with or Without Vestibular Involvement
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 36
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 36
Deafness, Autosomal Dominant, Without Vestibular Involvement
Autosomal Recessive Nonsyndromic Hearing Loss 36
Dfnawvi
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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,常染色体隐性36型,伴有或不伴有前庭参与,也称为耳聋,常染色体隐性36型,与常染色体隐性非综合征性耳聋36有关。与耳聋,常染色体隐性36型,伴有或不伴有前庭参与有关的重要基因是ESPN(Espin)。相关组织包括大脑,相关表型为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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1
7
6

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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