Multiple Epiphyseal Dysplasia with Robin Phenotype

Alias:
Epiphyseal Dysplasia, Multiple, with Robin Phenotype
Multiple Epiphyseal Dysplasia, Lowry Type
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
多发性软骨发育不全伴罗宾氏症候群,又称软骨发育不全,多发性,伴罗宾氏症候群。相关组织包括骨,相关表型包括脊柱侧弯和眼距增宽。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
<1/1000000
--
--
1

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