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
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
1182 CLCN3 chloride voltage-gated channel 3
1184 CLCN5 chloride voltage-gated channel 5
1435 CSF1 colony stimulating factor 1
2690 GHR growth hormone receptor
4286 MITF melanocyte inducing transcription factor
6522 SLC4A2 solute carrier family 4 member 2
9842 PLEKHM1 pleckstrin homology and RUN domain containing M1
79705 LRRK1 leucine rich repeat kinase 1
Displaying all 6 entries
Gene ID Gene Symbol Description Source
12725 Clcn3 chloride channel, voltage-sensitive 3
12728 Clcn5 chloride channel, voltage-sensitive 5
12977 Csf1 colony stimulating factor 1 (macrophage)
14600 Ghr growth hormone receptor
17342 Mitf melanogenesis associated transcription factor
20535 Slc4a2 solute carrier family 4 (anion exchanger), member 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24780 Slc4a2 solute carrier family 4 member 2
25235 Ghr growth hormone receptor
84360 Clcn3 chloride voltage-gated channel 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
180943 abts-4 Anion exchange protein

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Acknowledgements

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Last updated: December 9, 2024