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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
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 (AIH3)
Alias:
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 2
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1
Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly
Amelogenesis Imperfecta, Type Ie, X-Linked 2
Amelogenesis Imperfecta-3, Hypoplastic Type
Amelogenesis Imperfecta Type Ie X-Linked 2
Amelogenesis Imperfecta 3 Hypoplastic Type
Enamel Hypoplasia, X-Linked
X-Linked Enamel Hypoplasia
Aih3, Formerly
Aih3
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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
牙釉质发育不全,低/低成熟,X连锁2,也称为X连锁牙釉质发育不全低/低成熟2,与牙釉质发育不全,类型IE和牙釉质发育不全有关。与牙釉质发育不全,低/低成熟,X连锁2相关的基因是AIH3(牙釉质发育不全3,低/低成熟型),其相关通路/超通路包括胰岛素样生长因子(IGF)通过胰岛素样生长因子结合蛋白(IGFBPs)的运输和摄取的调节。相关表型为牙釉质发育不全。
Related ID:
MALACARDS:AML011
OMIM:301201
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
未知
--
4
24
1
AML011
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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