Ring Chromosome 12 Syndrome

Alias:
Ring Chromosome 12
Ring 12
Chromosome 12 Ring
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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
12号染色体环状畸变综合症,又称12号染色体环状畸变,与咖啡牛奶斑、多发性及小头畸形有关。相关组织包括心脏和乳腺,相关表型为全球发育延迟和异常面部形状
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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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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