Meier-Gorlin Syndrome 1 (MGORS1)

Alias:
Meier-Gorlin Syndrome
Ear, Patella, Short Stature Syndrome
Ear-Patella-Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome
Mgors1
Eps
Microtia Absent Patellae Micrognathia Syndrome
Ear Patella Short Stature Syndrome
Meier-Gorlin Syndrome, Type 1
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Meier-Gorlin Syndrome 1,也被称为Meier-Gorlin综合症,与Meier-Gorlin Syndrome 7和Meier-Gorlin Syndrome 5有关。与Meier-Gorlin Syndrome 1相关的基因是ORC1(起始识别复合物亚基1),其相关通路/超级通路包括细胞周期、有丝分裂和复制前复合物的组装。相关组织包括骨和睾丸,相关表型为生长发育迟缓和骨骼成熟延迟。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
胎儿期
<1/1000000
62
309
24

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!
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