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Standards Ontologies Notations
spondyloepimetaphyseal dysplasia

Summary
Definition
An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
Super Class
osteochondrodysplasia spinal disease
Disease Ontology
DOID:0080027
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1280 COL2A1 collagen type II alpha 1 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
12824 Col2a1 collagen, type II, alpha 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25412 Col2a1 collagen type II alpha 1 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
394828 col2a1 collagen, type II, alpha 1 Xenopus tropicalis (tropical clawed frog)
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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: December 9, 2024