Microphthalmia, Isolated 6 (MCOP6)

Alias:
Isolated Microphthalmia 6
Mcop6
Autosomal Recessive Posterior Microphthalmos
Microphthalmia, Posterior Nonsyndromic
Posterior Non-Syndromic Microphthalmia
Posterior Nonsyndromic Microphthalmia
Microphthalmia, Isolated, Type 6
Microphthalmia, Isolated, 6
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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
Microphthalmia, Isolated 6,也被称为孤立性小眼畸形6,与小眼畸形和小眼球症有关。与Microphthalmia, Isolated 6相关的重要的基因是PRSS56(丝氨酸蛋白酶56),其相关通路/超通路包括卡曼综合征。附属组织包括眼睛,相关表型为小角膜和小眼症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
10
65
12

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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