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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
Pupil Disease
Alias:
Pupil Disorders
Pupillary Disorder
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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
瞳孔疾病,又称瞳孔障碍,与上皮-基质tgfbi dystrophy和眼内压定量性状位点有关,症状包括眼部表现、脑膜炎和散瞳。与瞳孔疾病相关的重要基因是OPN4(视蛋白4)。在该疾病的背景下,提到的药物有异丙酚和瑞芬太尼。附属组织包括眼睛和大脑。
Related ID:
MALACARDS:PPL023
MESH:D011681
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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7
59
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PPL023
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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