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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
Argyll Robertson Pupil
Alias:
Atypical Argyll-Robertson Pupil
Argyll Robertson Phenomenon or Pupil, Nonsyphilitic
Argyll Robertson Pupil, Atypical
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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
阿罗瞳孔,又称非典型阿罗瞳孔,与异常瞳孔功能和神经梅毒有关,症状包括强直性瞳孔。与阿罗瞳孔有关的重要基因是MPZL1(髓鞘蛋白零类似1)。附属组织包括眼睛和松果体,相关表型是shRNA丰度增加(Z分数>2)。
Related ID:
MALACARDS:ARG003
ICD11:1086796982
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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6
47
--
ARG003
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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