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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
Short Stature with Nonspecific Skeletal Abnormalities (SNSK)
Alias:
Snsk
Stature, Short, with Nonspecific Skeletal Abnormalities
Short Stature with Non-Specific Skeletal Abnormalities
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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
短身高伴有非特异性骨骼异常,也称为ssk,与短指症、a1型和挛缩、翼状胬肉、脊柱-掌骨-跖骨融合综合征1a有关。与短身高伴有非特异性骨骼异常有关的重要基因是NPR2(利钠肽受体2)。相关组织包括骨,相关表型为骨骼成熟延迟和比例性矮小。
Related ID:
MALACARDS:SHR084
OMIM:616255
MESH:D004392
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
17
4
SHR084
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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