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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
Spondyloepiphyseal Dysplasia Tarda, X-Linked (SEDT)
Alias:
Spondyloepiphyseal Dysplasia Tarda
X-Linked Spondyloepiphyseal Dysplasia Tarda
Spondyloepiphyseal Dysplasia, Late
Sed Tarda, X-Linked
Sedt
Trappc2-Related X-Linked Spondyloepiphyseal Dysplasia Tarda
Late Onset Spondyloepiphyseal Dysplasia
Dysplasia, Spondyloepiphyseal, Tarda
Spondyloepiphyseal Dysplasia
X-Linked Sedt
X-Linked Sed
Sed Tarda
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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
脊柱-骨骺发育不良晚期,X连锁,又称脊柱-骨骺发育不良晚期,与先天性脊柱-骨骺发育不良和Dyggve-Melchior-Clausen病有关,症状包括关节痛。与脊柱-骨骺发育不良晚期,X连锁有关的重要基因是TRAPPC2(运输蛋白粒子复合物亚基2),其相关通路/超级通路包括蛋白质代谢和囊泡介导的运输。附属组织包括骨,相关表型为生长发育不良和不成比例的短躯干短身高。
Related ID:
MALACARDS:SPN405
OMIM:313400
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
常显
常隐
X染色体
青少年
--
27
119
29
SPN405
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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