osteopetrosis

Summary
Synonym
  • Albers-Schonberg disease
  • marble bone
Definition
An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
Super Class
osteosclerosis
External Links
Disease Ontology
DOID:13533
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 16 in total
Gene ID Gene Symbol Description Source
189 AGXT alanine--glyoxylate aminotransferase
249 ALPL alkaline phosphatase, biomineralization associated
410 ARSA arylsulfatase A
1178 CLC Charcot-Leyden crystal galectin
1718 DHCR24 24-dehydrocholesterol reductase
1836 SLC26A2 solute carrier family 26 member 2
2135 EXTL2 exostosin like glycosyltransferase 2
2137 EXTL3 exostosin like glycosyltransferase 3
2629 GBA1 glucosylceramidase beta 1
3339 HSPG2 heparan sulfate proteoglycan 2

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