Deafness and Myopia (DFNMYP)

Alias:
High Myopia-Sensorineural Deafness Syndrome
Dfnmyp
Deafness and Myopia Syndrome
High Myopia-Sensorineural Hearing Loss Syndrome
High Myopia and Sensorineural Deafness
Deafness, Cochlear, Plus
Myopia and 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
耳聋和近视,又称高度近视-感觉神经性耳聋综合征,与感觉神经性听力损失和多发性软骨发育不良、近视和传导性耳聋有关。与耳聋和近视有关的重要基因是SLITRK6(SLIT和NTRK类似家族成员6)。相关组织包括眼睛和大脑,相关表型为感觉神经性听力障碍和高度近视
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
7
54
12

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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