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
Disease Ontology
DOID:13994
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
860 RUNX2 RUNX family transcription factor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
12393 Runx2 runt related transcription factor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
852092 PHO8 alkaline phosphatase PHO8

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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: December 9, 2024