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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
Axial Mesodermal Dysplasia Spectrum
Alias:
Russell-Weaver-Bull Syndrome
Blastogenesis Defect
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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
轴旁中胚层发育不良谱系,又称罗素韦伯bull综合症,与骶部缺陷伴前脑膜膨出和颅面微小畸形有关。相关组织包括脾脏和肝脏,相关表型包括脊柱侧弯和脑积水。
Related ID:
MALACARDS:AXL004
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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胎儿期
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AXL004
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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