Macular Dystrophy with Central Cone Involvement (CCMD)

Alias:
Ccmd
Dystrophy, Macular, with Central Cone Involvement
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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
黄斑部中央锥体病变,也称为ccmd,与白内障1、多种类型和快速退化的先天性血管瘤有关。与黄斑部中央锥体病变相关的基因是MFSD8(主要协助超家族域包含8)。附属组织包括眼睛和丘脑,相关表型为视力障碍和视力下降
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
9
6

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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