cleidocranial dysplasia

Term ID

DOID:13994

Synonyms

• 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

• 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 )