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COG4-congenital disorder of glycosylation

Go to external page http://purl.obolibrary.org/obo/MONDO_0013281

COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. [ Orphanet:263501 ]

Synonyms: COG4-congenital disorder of glycosylation CDG syndrome type IIj COG4-CDG CDG-IIj carbohydrate deficient glycoprotein syndrome type IIj congenital disorder of glycosylation type 2j congenital disorder of glycosylation type IIj CDG2J

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:263501 (OMIM:613489)
  • SCTID:718751000 (MONDO:equivalentTo)
  • UMLS:C4303552 (MONDO:equivalentTo)
  • OMIM:613489 (Orphanet:263501/e)
  • GARD:12412 (Orphanet:263501)
  • DOID:0070262 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C4303552

http://www.orpha.net/ORDO/Orphanet_263501

http://identifiers.org/snomedct/718751000

https://omim.org/entry/613489

http://purl.obolibrary.org/obo/DOID_0070262

has related synonym

CDG IIj

COG4-CDG (CDG-IIj)

congenital disorder of glycosylation, type IIj

id

MONDO:0013281

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013281