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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 Vii (OI7)
Alias:
Osteogenesis Imperfecta Type Vii
Osteogenesis Imperfecta Type 7
Oi7
Osteogenesis Imperfecta, Type Iib, Formerly
Oi, Type Vii
Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive
Osteogenesis Imperfecta Type Ii Autosomal Recessive
Osteogenesis Imperfecta Type Iib
Osteogenesis Imperfecta 7
Oi2b, Formerly
Oi Type Iib
Oi Type Vii
Oi-Iib
Oi-Vii
Oi2b
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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
成骨不全症,类型VII,也称为成骨不全症类型VII,与成骨不全症类型II和粘多糖病IV有关。与成骨不全症,类型VII相关的基因是CRTAP(软骨相关蛋白),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。附属组织包括骨和肺,相关表型为反复骨折和股骨头下陷
Related ID:
MALACARDS:OST119
OMIM:610682
MESH:C565200
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
10
286
20
OST119
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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