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
Perching Syndrome (PERCHING)
Alias:
Perching
Crisponi/cold-Induced Sweating Syndrome 3, Formerly
Crisponi/cold-Induced Sweating Syndrome 3
Ciss3, Formerly
Ciss3
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
攀鸟综合症,又称攀鸟,与klhl7相关的bohring-opitz样和crisponi/冷诱导出汗样重叠综合症和脑积水,先天性1有关。攀鸟综合症的一个重要基因是KLHL7(Kelch Like Family Member 7)。附属组织包括大脑和骨骼,相关表型为吞咽困难和高腭。
Related ID:
MALACARDS:PRC054
OMIM:617055
MESH:D000015
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
4
8
PRC054
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