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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 3 (SRS3)
Alias:
Growth Restriction, Severe, with Distinctive Facies
Srs3
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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-罗素综合症3,也称为生长受限,伴有特征性面部,与黑色素瘤和弓形虫病有关。与银-罗素综合症3有关的重要基因是IGF2(胰岛素样生长因子2)。附属组织包括骨,相关表型包括动脉导管未闭和身材矮小。
Related ID:
MALACARDS:SLV028
OMIM:616489
MESH:D004392
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
16
7
SLV028
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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