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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
Silver-Russell Syndrome 5 (SRS5)
Alias:
Srs5
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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
银-Russell 综合征5,也称为srs5,与银- Russell 综合征1和脑下垂体综合征有关。与银- Russell 综合征5有关的重要基因是HMGA2(高迁移率组蛋白AT-钩2)。附属组织包括骨骼,相关表型为延迟骨骼成熟和婴儿喂养困难
Related ID:
MALACARDS:SLV031
OMIM:618908
MESH:D056730
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
9
7
SLV031
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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