Cleidocranial Dysplasia
Disease ID: disease_node_2130
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| Dbxref | GARD:6118, ICD10CM:Q74.0, MESH:D002973, MIM:119600, MIM:216330, NCI:C75020, ORDO:1452, SNOMEDCT_US_2023_03_01:65976001, UMLS_CUI:C0008928 |
|---|---|
| Subclassof | DOID_2256, DOID_0050736 |
| Data Source | DOID, MESH |
| Synonyms | Marie-Sainton Disease, cleidocranial dysostosis |
| Mesh Id | D002973 |
| Mesh Label | Cleidocranial Dysplasia |
| Mesh Subclassof | D010009, D019465 |
| Doid Label | cleidocranial dysplasia |
| Doid Description | 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. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_2130 |
| Doid Id | DOID_13994 |
| Label | Cleidocranial Dysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)