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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 A3 (BDA3)
Alias:
Brachydactyly Type A3
Brachydactyly-Clinodactyly
Brachymesophalangy V
Bda3
Brachydactyly Clinodactyly
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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
短指型A3,又称短指型A3,与神经发育、颌、眼和数字综合症以及罗宾序列有关,具有独特的面部外观和短指。与短指型A3有关的重要基因是HOXD13(Homeobox D13),其相关通路/超级通路包括COPI独立的高尔基体至内质网逆行交通。相关组织包括心脏和骨骼,相关表型为第五指的临床掌骨和圆锥状的骨端。
Related ID:
MALACARDS:BRC108
OMIM:112700
MESH:C537090
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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9
48
4
BRC108
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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