Acrofacial Dysostosis Syndrome of Rodriguez

Alias:
Acrofacial Dysostosis Rodriguez Type
Rodriguez Lethal Acrofacial Dysostosis Syndrome
Acrofacial Dysostosis, Syndrome of Rodriguez
Acrofacial Dysostosis, Rodríguez Type
Acrofacial Dysostosis, Rodriguez Type
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
罗德里格斯的acrofacial dysostosis综合征,又称acrofacial dysostosis rodriguez型,与acrofacial dysostosis和dysostosis有关。与罗德里格斯的acrofacial dysostosis综合征相关的重要基因是SF3B4(剪接因子3b亚基4)。附属组织包括骨和肺,相关表型为小耳和突出的鼻梁。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
胎儿期
<1/1000000
1
6
7

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!
微信
信息比对
科研助手
使用教程
回到顶部