Search Ontology:
Human Disease
cleidocranial dysplasia
- Term ID
- DOID:13994
- Synonyms
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- cleidocranial dysostosis
- Marie-Sainton Disease
- 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. (5)
- References
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- GARD:6118
- ICD10CM:Q74.0
- MESH:D002973
- MIM:119600
- MIM:216330
- NCI:C75020
- ORDO:1452
- SNOMEDCT_US_2023_03_01:65976001
- UMLS_CUI:C0008928
- Ontology
- Human Disease ( DOID:13994 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models