|  Help  |  About  |  Contact Us

DO Term : cleidocranial dysplasia [DOID:13994] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • OMIM:119600,
  • 119600,
  • cleidocranial dysostosis,
  • Marie-Sainton Disease,
  • SNOMEDCT_US_2023_03_01:65976001,
  • ORDO:1452,
  • NCI:C75020,
  • UMLS_CUI:C0008928,
  • GARD:6118,
  • OMIM:216330,
  • MESH:D002973,
  • ICD10CM:Q74.0,
  • 216330
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents