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DO Term : Crouzon syndrome [DOID:2339] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
  • synonyms:
  • GARD:6206,
  • Craniofacial Dysostosis,
  • SNOMEDCT_US_2023_03_01:28861008,
  • NCI:C84653,
  • 123500,
  • MESH:D003394,
  • OMIM:123500,
  • UMLS_CUI:C0010273,
  • Crouzon's disease,
  • ICD10CM:Q75.1
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents