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
罕见病
Intellectual Developmental Disorder, Autosomal Dominant 34 (MRD34)
Alias:
Mrd34
Autosomal Dominant Non-Syndromic Intellectual Disability 34
Autosomal Dominant Intellectual Developmental Disorder 34
Mental Retardation, Autosomal Dominant, Type 34
Intellectual Disability, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 34
Autosomal Dominant Mental Retardation 34
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
智力发育障碍,常染色体显性34型,也被称为mrd34。与智力发育障碍,常染色体显性34型相关的基因是CERT1(神经酰胺转运蛋白1)。相关组织包括大脑,相关表型包括智力障碍和全球发育延迟。
Related ID:
MALACARDS:INT462
OMIM:616351
MESH:D008607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
10
1
INT462
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