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Crouzon syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007405

Crouzon disease is characterized by craniosynostosis and facial hypoplasia. [ Orphanet:207 ]

Synonyms: Crouzon craniofacial dysostosis craniofacial dysostosis Crouzon syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D003394 (MONDO:equivalentTo)
  • Orphanet:207 (OMIM:123500)
  • NCIT:C84653 (MONDO:equivalentTo)
  • GARD:6206 (Orphanet:207)
  • SCTID:28861008 (MONDO:equivalentTo)
  • DOID:2339 (MONDO:equivalentTo)
  • UMLS:C0010273 (OMIM:123500)
  • NORD:1018 (MONDO:NORD)
  • OMIM:123500 (Orphanet:207/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

http://linkedlifedata.com/resource/umls/id/C0010273

http://identifiers.org/snomedct/28861008

http://www.orpha.net/ORDO/Orphanet_207

http://identifiers.org/mesh/D003394

http://purl.obolibrary.org/obo/NCIT_C84653

http://purl.obolibrary.org/obo/DOID_2339

https://omim.org/entry/123500

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368

has related synonym

Cfd1

Crouzon disease

Crouzon's disease

craniofacial dysostosis type 1

craniofacial dysostosis, type 1

id

MONDO:0007405

seeAlso

https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome

https://search.clinicalgenome.org/kb/conditions/MONDO:0007405

Term relations