melorheostosis

Summary
Definition
An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
Super Class
osteosclerosis
External Links
Disease Ontology
DOID:4253
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5743 PTGS2 prostaglandin-endoperoxide synthase 2
130749 CPO carboxypeptidase O
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P35354 Prostaglandin G/H synthase 2
Q8IVL8 Carboxypeptidase O

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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