Retinal Dystrophy and Iris Coloboma with or Without Cataract (RDICC)

Alias:
Familial Progressive Retinal Dystrophy-Iris Coloboma-Congenital Cataract Syndrome
Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract
Rdicc
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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
视网膜发育不良和虹膜缺损伴有或不伴有白内障,也称为家族性进行性视网膜发育不良-虹膜缺损-先天性白内障综合征,与白内障和前段发育不良有关5。与视网膜发育不良和虹膜缺损伴有或不伴有白内障有关的重要基因是MIR204(微小RNA 204)。附属组织包括眼睛,相关表型为虹膜缺损和视力下降

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
1
7
2

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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