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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
Ring Chromosome 14 Syndrome
Alias:
Ring Chromosome 14
Ring 14
Chromosome 14 Ring
Ring 14 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
14号染色体环状综合征,又称14号染色体环状,与环状染色体和小头畸形有关。与14号染色体环状综合征相关的重要基因是RC14S(14号染色体环状综合征)。附属组织包括视网膜和眼睛,相关表型为色素性视网膜病变和全球发育延迟
Related ID:
MALACARDS:RNG029
OMIM:616606
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
<1/1000000
--
--
6
RNG029
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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