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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, Preaxial, with Hallux Varus and Thumb Abduction
Alias:
Brachydactyly-Preaxial Hallux Varus Syndrome
Christian Brachydactyly
Preaxial Brachydactyly with Hallux Varus and Thumb Abduction
Brachydactyly Preaxial with Hallux Varus and Thumb Abduction
Brachydactyly Preaxial Hallux Varus
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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
短指症,前轴型,伴有拇指外翻和拇指外展,也称为短指-前轴型拇指外翻综合征,与短指症有关。附属组织包括骨骼,相关表型为宽拇指和小颌
Related ID:
MALACARDS:BRC093
OMIM:112450
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
--
--
3
BRC093
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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