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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
Brachydactyly, Type A2 (BDA2)
Alias:
Brachydactyly Type A2
Mohr-Wriedt Type Brachydactyly
Brachymesophalangy Ii
Bda2
Brachydactyly, Mohr-Wriedt Type
Brachymesophalangy Type 2
Brachydactyly A2
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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
短指畸形A2型,又称短指畸形A2型,与短指畸形A4型和短指畸形有关。与短指畸形A2型相关的基因是GDF5(生长分化因子5),其相关通路/超级通路包括ERK信号通路和Akt信号通路。附属组织包括骨和心脏,相关表型为A2型短指畸形和第五指屈指畸形。
Related ID:
MALACARDS:BRC079
OMIM:112600
MESH:C537089
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
27
249
10
BRC079
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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