Cone-Rod Dystrophy 21 (CORD21)

Alias:
Retinal Dystrophy with Early Macular Involvement
Cord21
Dystrophy, Cone-Rod, Type 21
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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
视锥-视杆性营养不良21,也称为早期黄斑受累的视网膜营养不良,与视锥-视杆性营养不良16和视网膜营养不良有关。与视锥-视杆性营养不良21有关的重要基因是DRAM2(DNA损伤调节自噬调节因子2)。附属组织包括骨,相关表型为畏光和夜盲症。
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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
6
2

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
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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
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IF
No Data Found!
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