Craniofacial Dysostosis
Disease ID: disease_node_2293
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| Dbxref | GARD:6206, ICD10CM:Q75.1, MESH:D003394, MIM:123500, NCI:C84653, SNOMEDCT_US_2023_03_01:28861008, UMLS_CUI:C0010273 |
|---|---|
| Subclassof | DOID_2340 |
| Data Source | DOID, MESH |
| Synonyms | Craniofacial Dysostosis, Crouzon's disease |
| Mesh Id | D003394 |
| Mesh Label | Craniofacial Dysostosis |
| Mesh Subclassof | D004413, D019465 |
| Doid Label | Crouzon syndrome |
| Doid 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_2293 |
| Doid Id | DOID_2339 |
| Label | Craniofacial Dysostosis |
- Outgoing r'ship
SUBCLASS_OFto/from Craniosynostoses(ID:disease_node_2298) (Disease)