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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
非罕见病
Dandy-Walker Syndrome (DWS)
Alias:
Dandy-Walker Malformation
Atresia of Foramina of Magendie and Luschka
Dandy-Walker Deformity
Dandy Walker Cyst
Dws
Hydrocephalus, Noncommunicating, Dandy-Walker Type
Hydrocephalus, Internal, Dandy-Walker Type
Congenital Blockage of Foramen Magendie
Luschka-Magendie Foramina Atresia
Atresia of Foramen of Magendie
Atresia of Foramen of Luschka
Dandy-Walker Complex
Dandy Walker Variant
Dandy-Walker Cyst
Dwm
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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
达纳-沃克综合症,也称为达纳-沃克畸形,与大脑半球、无脑回和脑积水有关,症状包括小脑共济失调和躯干共济失调。与达纳-沃克综合症有关的重要基因是DWS(达纳-沃克综合症),其相关通路/超级通路包括MRAS功能增强复合物激活RAF信号通路。相关组织包括小脑和大脑,相关表型包括眼震和脑积水。
Related ID:
MALACARDS:DND001
OMIM:220200
MESH:D003616
ICD11:993088960
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
胎儿期
--
34
250
11
DND001
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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