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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
Nephrotic Syndrome, Type 12 (NPHS12)
Alias:
Nphs12
Nephrotic Syndrome Type 12
Nephrotic Syndrome 12
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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
Nephrotic Syndrome, Type 12,也被称为nphs12。与Nephrotic Syndrome, Type 12相关的基因是NUP93(核孔蛋白93)。相关组织包括肾脏和骨髓,相关表型包括局灶性节段性肾小球硬化和激素抵抗性肾病综合征。
Related ID:
MALACARDS:NPH096
OMIM:616892
MESH:D009404
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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NPH096
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