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
Disease Ontology
DOID:4253
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5604 MAP2K1 mitogen-activated protein kinase kinase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
26395 Map2k1 mitogen-activated protein kinase kinase 1

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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