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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
Cutaneous Diphtheria
Alias:
Diphtheria Wound Infection
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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
皮肤性白喉,又称为白喉伤口感染,与白喉和多核神经元、无羊水、肾发育不良、小脑发育不良和脑积水有关。与皮肤性白喉相关的重要基因是YIPF7(Yip1域家族成员7),其相关通路/超通路包括凋亡和自噬。附属组织包括皮肤。
Related ID:
MALACARDS:CTN005
ICD11:618920860
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
7
32
--
CTN005
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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