Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly (SRTD7)

Alias:
Srtd7
Srps5
Short-Rib Thoracic Dysplasia 7/20 with Polydactyly, Digenic
Short Rib-Polydactyly Syndrome Type V
Dysplasia, Thoracic, Short-Rib, Type 7 with/without Polydactyly
Short-Rib Thoracic Dysplasia 7 Without Polydactyly
Short Rib-Polydactyly Syndrome, Type V
Short Rib-Polydactyly Syndrome Type 5
Srps Type V
Srtd7/20
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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
短肢胸椎发育不良7型,也称为srtd7,与短肢多指综合征和萨尔迪诺-诺南型短肢多指综合征有关。与短肢胸椎发育不良7型相关的基因是WDR35(WD重复域35),其相关通路/超级通路包括信号转导和细胞器生物发生和维护。相关组织包括胰腺和骨骼,相关表型包括高腭弓和长骨弯曲。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
胎儿期
<1/1000000
9
47
13

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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