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。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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2
17
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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