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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Rare Mitochondrial Non-Syndromic Sensorineural Deafness
Alias:
Mitochondrial Non-Syndromic Sensorineural Hearing Loss
Mitochondrial Non-Syndromic Neurosensory Hearing Loss
Isolated Mitochondrial Sensorineural Hearing Loss
Mitochondrial Non-Syndromic Neurosensory Deafness
Isolated Mitochondrial Neurosensory Hearing Loss
Isolated Mitochondrial Sensorineural Deafness
Isolated Mitochondrial Neurosensory 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
罕见线粒体非综合征感觉神经性耳聋,又称线粒体非综合征感觉神经性听力损失,与耳聋、非综合征感觉神经性、线粒体和感觉神经性听力损失有关。罕见线粒体非综合征感觉神经性耳聋的一个重要相关基因是MT-CO1(线粒体编码的细胞色素C氧化酶I)。
Related ID:
MALACARDS:RRM020
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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3
16
67
RRM020
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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Journal
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IF
No Data Found!
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