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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 2 (CORD2)
Alias:
Cone-Rod Dystrophy
Cone-Rod Retinal Dystrophy
Retinal Cone-Rod Dystrophy
Cord2
Cone-Rod Retinal Dystrophy-2
Cone-Rod Retinal Dystrophy 2
Tapetoretinal Degeneration
Cone Rod Dystrophy
Rcrd2
Cord
Crd2
Crd
Progressive Cone-Rod Dystrophy
Retinal Cone-Rod Dystrophy 2
Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa 2
Cone-Rod Degeneration
Retinitis Pigmentosa
Dystrophy, Cone-Rod
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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-视杆萎缩2,也称为视锥-视杆萎缩,与视锥-视杆萎缩3和视锥-视杆萎缩16有关。与视锥-视杆萎缩2有关的重要基因是CRX(视锥-视杆同源盒),其相关通路/超级通路包括巴德-毕德氏综合症和纤毛病。维生素A和DL-α-生育酚已在该疾病的背景下被提及。附属组织包括眼睛和脊髓,相关表型为视网膜色素异常和畏光。
Related ID:
MALACARDS:CNR004
OMIM:120970
MESH:D058499
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
常显
常隐
X染色体
孩童期
--
390
2493
515
CNR004
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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