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 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
1120 CHKB choline kinase beta
1605 DAG1 dystroglycan 1
1636 ACE angiotensin I converting enzyme
2218 FKTN fukutin
3482 IGF2R insulin like growth factor 2 receptor
3960 LGALS4 galectin 4
4351 MPI mannose phosphate isomerase
6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
10585 POMT1 protein O-mannosyltransferase 1
29954 POMT2 protein O-mannosyltransferase 2
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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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