Angel-Shaped Phalangoepiphyseal Dysplasia (ASPED)

Alias:
Angel-Shaped Phalango-Epiphyseal Dysplasia
Asped
Angel Shaped Phalangoepiphyseal Dysplasia
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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
天使状指骨-关节发育不良,也称为天使状指骨-关节发育不良,与不可梳头综合征1和外胚层发育不良有关。与天使状指骨-关节发育不良有关的重要基因是GDF5(生长分化因子5)。附属组织包括骨,相关表型为第一掌骨短和手指中指短。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
<1/1000000
1
17
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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信息比对
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