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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
Osteogenesis Imperfecta, Type Xiv (OI14)
Alias:
Osteogenesis Imperfecta Type 14
Oi14
Osteogenesis Imperfecta Type Xiv
Osteogenesis Imperfecta 14
Oi, Type Xiv
Oi Type Xiv
Oi-Xiv
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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
XIV型成骨不全症,又称成骨不全症14型,与易碎骨病和金登堡综合症有关。与XIV型成骨不全症相关的基因是TMEM38B(跨膜蛋白38B),其相关通路/超级通路包括胶原链三聚体化和细胞外基质组织。相关组织包括骨和皮质,相关表型为骨质疏松和反复骨折。
Related ID:
MALACARDS:OST109
OMIM:615066
MESH:D010013
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
9
50
3
OST109
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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