spondylocostal dysostosis

Summary
Synonym
  • Jarcho-Levin syndrome
  • costovertebral dysplasia
  • spondylothoracic dysostosis
  • spondylothoracic dysplasia
Definition
A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
Super Class
dysostosis spinal disease
External Links
Disease Ontology
DOID:0050568
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
3955 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
23443 SLC35A3 solute carrier family 35 member A3
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