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
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly (FUHRS)
Alias:
Fuhrmann Syndrome
Fibular Hypoplasia or Aplasia-Femoral Bowing-Oligodactyly Syndrome
Fuhrmann-Rieger-De Sousa Syndrome
Hypoplasia Femoral Bowing and Poly- Syn- and Oligodactyly
Fibular Aplasia
Fuhrs
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
腓骨缺如或发育不全、股骨弯曲和多、并、少指症,又称福尔曼综合症,与尺骨和腓骨的缺失有关,伴有严重的肢体缺陷和手足分裂畸形。与腓骨缺如或发育不全、股骨弯曲和多、并、少指症相关的基因是WNT7A(Wnt家族成员7A),其相关通路/超级通路包括信号转导和G蛋白偶联受体下游信号转导。相关组织包括骨和子宫,相关表型包括尺骨发育不全和尺骨缺如/发育不全。
Related ID:
MALACARDS:FBL008
OMIM:228930
MESH:C538189
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
17
189
8
FBL008
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