Syndactyly, Type V (SDTY5)

Alias:
Syndactyly Type 5
Sdty5
Syndactyly with Metacarpal and Metatarsal Fusion
Postaxial Syndactyly with Metacarpal Synostosis
Sd5
Syndactyly with Associated Metacarpal and Metatarsal Fusion
Syndactyly, Type V, with Metacarpal and Metatarsal Fusion
Syndactyly Type V
Syndactyly 5
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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
并指,类型V,又称并指类型5,与短指型A4和短指型D有关。与并指,类型V相关的基因是HOXD13(Homeobox D13),其相关通路/超级通路包括FGFR3信号通路在软骨细胞增殖和终末分化中的作用。附属组织包括骨和肾,相关表型为手指远端指节短和手指尺偏。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
11
128
5

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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