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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
罕见病
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。
Related ID:
MALACARDS:CNR032
OMIM:616502
MESH:D058499
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
6
2
CNR032
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
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Year
IF
No Data Found!
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