Congenital Aphakia

Alias:
Congenital Absence of Lens
Aphakia, Congenital Primary
Agenesis of Lens
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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
先天性无晶状体,又称先天性晶状体缺如,与弗林斯小眼症和青光眼3型、先天性原发性a型有关。与先天性无晶状体相关的重要基因是FOXE3(叉头盒E3)。附属组织包括眼和垂体,相关表型为视力/眼。
Related ID:
ICD11:885383581

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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11
135
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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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