craniometaphyseal dysplasia

Summary
Definition
An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.
Super Class
osteosclerosis
External Links
Disease Ontology
DOID:0080033
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
57126 CD177 CD177 molecule
79147 FKRP fukutin related protein
Related Glycoprotein
Displaying entry 11 - 11 of 11 in total
UniProt ID Protein Name Source
Q9Y6A1 Protein O-mannosyl-transferase 1

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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