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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
Diffuse Scleroderma
Alias:
Diffuse Systemic Sclerosis
Progressive Systemic Sclerosis
Systemic Sclerosis, Diffuse
Systemic Scleroderma
Scleroderma, Diffuse
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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
弥漫性硬皮病,又称为弥漫性系统性硬皮病,与弥漫性皮肤系统性硬皮病和家族性进行性硬皮病有关,症状包括皮疹、瘙痒和皮肤紧绷。与弥漫性硬皮病有关的重要基因是EXOSC10(外体成分10)。在该疾病的背景下提到了药物他达拉非和阿司匹林。附属组织包括肺和皮肤。
Related ID:
MALACARDS:DFF003
MESH:D045743
ICD11:1852283743
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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16
101
--
DFF003
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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