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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
Deafness, Autosomal Dominant 70 (DFNA70)
Alias:
Dfna70
Autosomal Dominant Nonsyndromic Deafness 70
Autosomal Dominant Nonsyndromic Hearing Loss 70
Deafness, Autosomal Dominant, 70
Autosomal Dominant Deafness 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,常染色体显性70型,也被称为dfna70,与挛缩、翼状胬肉和脊柱-掌跖-踝关节融合综合征1a以及常染色体显性非综合征性聋有关。与先天性聋,常染色体显性70型相关的基因是MCM2(微小染色体维持复合体成分2)。相关组织包括大脑,相关表型为进行性感觉神经性听力障碍和异常前庭功能。
Related ID:
MALACARDS:DFN327
OMIM:616968
MESH:D006319
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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7
23
1
DFN327
Medical Symptom
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Gene & Mutation
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