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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
Nail Disorder, Nonsyndromic Congenital, 8 (NDNC8)
Alias:
Nonsyndromic Congenital Nail Disorder 8
Toenail Dystrophy, Isolated
Isolated Toenail Dystrophy
Ndnc8
Isolated Toenail Dystrophy Without Skin Fragility
Nail Disorder, Nonsyndromic Congenital, Type 8
Nail Disorder, Non-Syndromic Congenital, 8
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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
指甲发育不良,非综合征性先天性,8型,也称为非综合征性先天性指甲发育不良8型,与表皮松解性大疱性营养不良,常染色体隐性遗传和乌尔里希先天性肌肉萎缩症1型有关。指甲发育不良,非综合征性先天性,8型的一个重要基因是COL7A1(胶原蛋白7型α1链),其相关通路/超级通路包括磷脂酶C通路和胶原链三聚体化。附属组织包括皮肤,相关表型为进行性趾甲。
Related ID:
MALACARDS:NLD015
OMIM:607523
MESH:D009260
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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MALACARDS
常显
未知
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6
29
5
NLD015
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