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Dysspondyloenchondromatosis

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dysspondyloenchondromatosis is related to enchondromatosis, multiple, ollier type and enchondroma. An important gene associated with Dysspondyloenchondromatosis is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone and skin, and related phenotypes are scoliosis and short stature
Related ID：
MALACARDS：DYS134

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
1
19
--
DYS134

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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