Duane Retraction Syndrome 3 with or Without Deafness (DURS3)

Alias:
Duane Retraction Syndrome 3
Durs3
Duane Retraction Syndrome with Congenital Hearing Loss
Duane Retraction Syndrome with Congenital Deafness
Durs with Hearing Loss
Drs with Hearing Loss
Durs with Deafness
Drs with 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
杜氏肌营养不良症3型,伴有或不伴有耳聋,也称为杜氏肌营养不良症3型。与杜氏肌营养不良症3型,伴有或不伴有耳聋有关的重要基因是MAFB(MAF BZIP转录因子B)。相关组织包括眼睛,相关表型为听力障碍和眼外肌功能障碍。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
1
18
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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