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Spondyloepiphyseal Dysplasia with Atlantoaxial Instability

Alias:
Spondyloepiphyseal Dysplasia, Reardon Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability, is also known as spondyloepiphyseal dysplasia, reardon type. Affiliated tissues include bone and tongue, and related phenotypes are delayed skeletal maturation and short stature
Related ID：
MALACARDS：SPN346
OMIM：600561

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
--
--
1
SPN346

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

Title
PMID
Journal
Year
IF
No Data Found!
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