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
Frontonasal Dysplasia 2 (FND2)
Alias:
Frontonasal Dysplasia with Alopecia and Genital Anomaly
Fnd2
Craniofrontonasal Dysplasia with Alopecia and Hypogonadism
Frontonasal Dysplasia with Alopecia and Genital Abnomality
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Dysplasia, Frontonasal, Type 2
Frontonasal Dysplasia Type 2
Alx4-Related Fndag
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
额鼻发育不全2,也称为伴有脱发和生殖器异常的额鼻发育不全,与顶孔和额颞宽有关。额鼻发育不全2的一个重要基因是ALX4(ALX同源盒4),其相关通路/超通路包括SARS潜在治疗和11p11.2拷贝数变异综合征。相关组织包括骨和皮肤,相关表型包括眼震和鼻梁下陷。
Related ID:
MALACARDS:FRN033
OMIM:613451
MESH:D000013
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
7
30
4
FRN033
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