Nail Disorder, Nonsyndromic Congenital, 4 (NDNC4)

Alias:
Anonychia Congenita
Anonychia
Hyponychia Congenita
Nonsyndromic Congenital Nail Disorder 4
Anonychia/hyponychia Congenita
Anonychia Congenita Totalis
Ndnc4
Nail Disorder, Nonsyndromic, Congenital, Type 4
Nail Disorder, Non-Syndromic Congenital, 4
Congenital Absence of Nails
Anonychia Totalis
Aplastic Nails
Absent Nails
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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
指甲发育障碍,非综合征性先天性,4型,也被称为先天性无指甲症,与大疱性表皮松解症和无汗症有关。与指甲发育障碍,非综合征性先天性,4型相关的基因是RSPO4(R-脊柱蛋白4),其相关通路/超级通路包括角化和毛囊发育:器官发生 - 第2部分3。附属组织包括骨和皮肤,相关表型为无指甲和生长异常。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
未知
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18
117
10

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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