Bonnemann-Meinecke-Reich Syndrome

Alias:
Encephalopathy-Intracerebral Calcification-Retinal Degeneration Syndrome
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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
Bonnemann-Meinecke-Reich 综合症,又称脑病-脑内钙化-视网膜退化综合症。相关组织包括大脑,相关表型为痉挛和EEG异常。
Related ID:

Basic Information

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