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 11 - 16 of 16 in total
Gene ID Gene Symbol Description Source
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
6916 TBXAS1 thromboxane A synthase 1
8560 DEGS1 delta 4-desaturase, sphingolipid 1
9663 LPIN2 lipin 2
9791 PTDSS1 phosphatidylserine synthase 1
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2

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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