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Crouzon syndrome-acanthosis nigricans syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0012833

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). [ Orphanet:93262 ]

Synonyms: CAN Crouzon syndrome-acanthosis nigricans syndrome Crouzon-dermoskeletal syndrome chronic allograft nephropathy Crouzonodermoskeletal syndrome Chronic kidney allograft nephropathy

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:612247 (Orphanet:93262/e)
  • MESH:C567382 (MONDO:equivalentTo)
  • GARD:16810 (Orphanet:93262)
  • DOID:0111161 (MONDO:equivalentTo)
  • SCTID:702361006 (MONDO:equivalentTo)
  • NCIT:C38145 (MONDO:equivalentTo)
  • Orphanet:93262 (OMIM:612247)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0111161

http://identifiers.org/mesh/C567382

http://www.orpha.net/ORDO/Orphanet_93262

http://identifiers.org/snomedct/702361006

https://omim.org/entry/612247

http://purl.obolibrary.org/obo/NCIT_C38145

excluded subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0005363

has related synonym

can

Crouzon syndrome with acanthosis nigricans

id

MONDO:0012833

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0012833