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
Disease Ontology
DOID:13533
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6522 SLC4A2 solute carrier family 4 member 2
9842 PLEKHM1 pleckstrin homology and RUN domain containing M1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12977 Csf1 colony stimulating factor 1 (macrophage)
17342 Mitf melanogenesis associated transcription factor

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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: April 7, 2025