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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
Spondyloocular Syndrome (SOS)
Alias:
Spondylo-Ocular Syndrome
Sos
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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
脊眼综合症,也称为脊眼综合症,与肝静脉闭塞性疾病和心脏骤停有关。与脊眼综合症有关的重要基因是XYLT2(木糖转移酶2)。附属组织包括眼睛和骨骼,相关表型为短颈和宽眼距。
Related ID:
MALACARDS:SPN331
OMIM:605822
MESH:D002386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
4
3
SPN331
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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