Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
非罕见病
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 (OIEDS1)
Alias:
Oieds1
Oieds Syndrome 1
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
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
联合成骨不全和埃勒斯-当洛斯综合症1,也称为oieds1,与埃勒斯-当洛斯综合症和埃勒斯-当洛斯综合症,关节松弛型1有关。与联合成骨不全和埃勒斯-当洛斯综合症1有关的重要基因是COL1A1(胶原蛋白Iα1链)。相关组织包括骨和皮肤,相关表型为骨矿物质密度降低和关节过度活动。
Related ID:
MALACARDS:CMB108
OMIM:619115
MESH:D004535
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
212
9
CMB108
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