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。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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6
29
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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No Data Found!
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