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Spondylospinal Thoracic Dysostosis

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spondylospinal Thoracic Dysostosis is related to dysostosis and multiple pterygium syndrome, escobar variant. Affiliated tissues include skin, and related phenotypes are short thorax and micrognathia
Related ID：
MALACARDS：SPN155
OMIM：601809

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
SPN155

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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

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PMID
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Year
IF
No Data Found!
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