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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
Myopia, High, with Cataract and Vitreoretinal Degeneration (MCVD)
Alias:
Mcvd
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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
近视,高度,伴有白内障和视网膜病变,也称为MCVD,与玻璃体综合症和晶状体半脱位有关。与近视,高度,伴有白内障和视网膜病变相关的基因是P3H2(脯氨酸3-羟化酶2)。附属组织包括乳腺,相关表型为视力轻微下降和白内障。
Related ID:
MALACARDS:MYP073
OMIM:614292
MESH:D009216
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
8
3
MYP073
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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