Brachydactyly, Type B1 (BDB1)

Alias:
Brachydactyly Type B1
Brachydactyly Type B
Bdb1
Brachydactyly, Type B
Bdb
Brachydactyly B1
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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
短指型B1型先天性短指症,又称先天性短指症B1型,与短指症和短指型B2型有关。与短指型B1型相关的基因是ROR2(受体酪氨酸激酶样孤儿受体2),其相关通路/超级通路包括信号转导和WNT信号通路。相关组织包括骨和心脏,相关表型为手指远端指节短和掌骨短。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
11
108
15

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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