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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
Ectodermal Dysplasia 6, Hair/nail Type (ECTD6)
Alias:
Ectodermal Dysplasia 6
Ectd6
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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
表皮发育不良6型,毛发/指甲型,也称为表皮发育不良6型,与表皮发育不良和表皮发育不良10b,无汗/毛发/牙齿型,常染色体隐性有关。与表皮发育不良6型,毛发/指甲型相关的基因是ECTD6(表皮发育不良6型,毛发/指甲型),其相关通路/超级通路包括角质化和毛囊发育:细胞分化 - 第3部分。相关表型为脱发和稀疏的头发。
Related ID:
MALACARDS:ECT068
OMIM:614928
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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12
98
1
ECT068
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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