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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
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中文
罕见病
Polymicrogyria (PMG)
Alias:
Pmg
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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
多小脑回畸形,也称为pmg,与巨脑回畸形-毛细血管畸形-多小脑回畸形综合症和双侧边缘性多小脑回畸形有关。与多小脑回畸形相关的重要基因是ATP1A2(钠钾ATP酶转运子α2亚基),其相关通路/超级通路包括神经系统发育和MHC I类介导的抗原处理和呈递。相关组织包括大脑和皮层,相关表型包括神经系统和生长/大小/身体区域。
Related ID:
MALACARDS:PLY024
MESH:D065706
ICD11:2081858551
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X隐
常隐
常显
X染色体
孩童期
--
80
603
3
PLY024
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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