| Metadata | |
|---|---|
| ID | DOID:13994 |
| Name | cleidocranial dysplasia |
| 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. http://en.wikipedia.org/wiki/Cleidocranial_dysostosis, http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia, http://www.healthline.com/galecontent/cleidocranial-dysplasia-1, http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm, https://www.faces-cranio.org/cleidocranial |
| Xrefs |
SNOMEDCT_US_2023_03_01:65976001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
cleidocranial dysostosis [EXACT] Marie-Sainton Disease [EXACT] |
| Parent Relationships |