loading...| Preferred Name |
Crouzon syndrome |
| Synonyms |
Craniofacial Dysostosis |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_2339 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:123500 MESH:D003394 UMLS_CUI:C0010273 ICD10CM:Q75.1 GARD:6206 NCI:C84653 SNOMEDCT_US_2022_09_01:28861008 |
| definition |
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. |
| has exact synonym |
Craniofacial Dysostosis |
| has_obo_namespace |
disease_ontology |
| has_related_synonym |
Crouzon's disease |
| id |
DOID:2339 |
| in_subset | |
| label |
Crouzon syndrome |
| notation |
DOID:2339 |
| prefLabel |
Crouzon syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/123500 | Online Mendelian Inheritance in Man | LOOM |