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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
Congenital Syphilis
Alias:
Syphilis, Congenital
Mother-to-Child Transmission of Syphilis
Congenital Syphilis, Unspecified
Syphilis Congenital
Hereditary Syphilis
Mtct of Syphilis
Heredosyphilis
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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
先天性梅毒,又称先天性梅毒,与早期先天性梅毒和梅毒有关,症状包括梅毒性溃疡。与先天性梅毒相关的重要基因是CD40LG(CD40配体),其相关通路/超级通路包括SARS-CoV-2介导的外周和滤泡B细胞激活和原发性局灶性节段性肾小球硬化(FSGS)。在该疾病的背景下,已提到的药物包括苯溴马隆和阿莫西林。附属组织包括胎盘和骨,相关表型为死亡/衰老。
Related ID:
MALACARDS:CNG033
MESH:D013590
ICD11:587996426
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
胎儿期
1-9/100000
14
129
--
CNG033
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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