cleidocranial dysplasia

Summary
Synonym
  • Marie-Sainton Disease
  • cleidocranial dysostosis
Definition
An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
Super Class
autosomal dominant disease osteochondrodysplasia
External Links
Disease Ontology
DOID:13994
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
217 ALDH2 aldehyde dehydrogenase 2 family member
2131 EXT1 exostosin glycosyltransferase 1
2132 EXT2 exostosin glycosyltransferase 2
3339 HSPG2 heparan sulfate proteoglycan 2
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5648 MASP1 MBL associated serine protease 1
7369 UMOD uromodulin
9126 SMC3 structural maintenance of chromosomes 3
9469 CHST3 carbohydrate sulfotransferase 3

About Release Notes Help Feedback

Click here to visit the beta site.


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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024