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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, 6 (NDNC6)
Alias:
Anonychia/hyponychia and Onychodystrophy
Nonsyndromic Congenital Nail Disorder 6
Anonychia, Partial
Ndnc6
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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,6型,也被称为无指甲/低指甲和指甲发育不良。相关表型为手指远端指节骨变细和先天性髋关节脱位。
Related ID:
MALACARDS:NLD010
OMIM:107000
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
--
--
2
NLD010
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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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