pseudoachondroplasia

Summary
Synonym
  • SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
  • pseudoachondroplastic dysplasia
Definition
An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
Super Class
autosomal dominant disease osteochondrodysplasia
External Links
Disease Ontology
DOID:0080047
Mondo Disease Ontology
MeSH
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
821 CANX calnexin
1298 COL9A2 collagen type IX alpha 2 chain
1634 DCN decorin
Displaying 1 entry
Gene ID Gene Symbol Description Source
33941 Tsp Thrombospondin
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024