Osebold-Remondini Syndrome (BDA6)

Alias:
Brachydactyly Type A6
Brachymesophalangy with Mesomelic Short Limbs and Carpal and Tarsal Osseous Abnormalities
Bda6
Brachydactyly, Type A6
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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
奥斯博尔德-雷蒙迪综合症,又称短指型6型先天性短指症,与点状软骨发育不良综合症和骨融合有关。与奥斯博尔德-雷蒙迪综合症相关的重要基因是PARP16(聚(ADP-核糖)聚合酶家族成员16),其相关通路/超级通路包括SARS-CoV-1宿主相互作用和早期SARS-CoV-2感染事件。相关组织包括骨和心脏,相关表型为身材矮小和短趾。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
5
27
3

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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