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
Ichthyosis, Lamellar, Autosomal Dominant (ADLI)
Alias:
Lamellar Ichthyosis, Autosomal Dominant
Autosomal Dominant Lamellar Ichthyosis
Adli
Ichthyosis Lamellar, Autosomal Dominant
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
鱼鳞病,板层,常染色体显性,也称为板层鱼鳞病,常染色体显性,与挛缩、翼状胬肉和脊柱-掌跖-踝关节融合综合征1a和常染色体隐性先天性鱼鳞病有关。与鱼鳞病,板层,常染色体显性相关的基因是ASPRV1(Aspartic Peptidase Retroviral Like 1)。相关组织包括皮肤和肝脏,相关表型为角化过度和瘙痒。
Related ID:
MALACARDS:ICH074
OMIM:146750
MESH:D007057
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
4
7
ICH074
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