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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
非罕见病
Deafness, Autosomal Recessive 70, with or Without Adult-Onset Neurodegeneration (DFNB70)
Alias:
Dfnb70
Deafness, Autosomal Recessive, 70, with or Without Adult-Onset Neurodegeneration
Autosomal Recessive Nonsyndromic Hearing Loss 70
Deafness, Autosomal Recessive, Type 70
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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70型,伴有或不伴有成人期神经退行性病变,也称为dfnb70,与常染色体隐性非综合征性聋70有关。与先天性聋,常染色体隐性70型,伴有或不伴有成人期神经退行性病变相关的基因是PNPT1(多核糖核苷酸核苷转移酶1)。
Related ID:
MALACARDS:DFN398
OMIM:614934
MESH:D003638
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
5
4
DFN398
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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No data available
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No data available
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Name
MGI
Related Gene
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No data available
References Literature
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No Data Found!
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