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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
Keloid Disorder
Alias:
Keloid
Non-Surgical Keloid
Keloid Scar
Keloids
Cheloid
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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
瘢痕疙瘩,又名瘢痕疙瘩,与毛细血管扩张和牙龈增生有关。与瘢痕疙瘩有关的重要基因是H19(H19印记母系表达转录本),其相关通路/超通路包括Wnt / Hedgehog / Notch和DNA损伤反应(仅依赖ATM)。在该疾病的背景下提到了凡士林和普鲁卡因。附属组织包括皮肤和骨髓,相关表型为瘢痕疙瘩和消化/消化道
Related ID:
MALACARDS:KLD004
ICD11:2057714006
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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5
50
--
KLD004
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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