JSON

COG4-congenital disorder of glycosylation

^ 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 ]

Term info

database cross reference
  • DOID:0070262 (MONDO:equivalentTo)
  • SCTID:718751000 (MONDO:equivalentTo)
  • UMLS:C3150736 (OMIM:613489)
  • GARD:0012412 (MONDO:equivalentTo)
  • OMIM:613489 (Orphanet:263501/e)
  • Orphanet:263501 (OMIM:613489)
Subsets

ordo_disease

abbreviation
CDG2J [ Orphanet:263501 OMIM:613489 MONDO:Lexical ]

abbreviation
COG4-CDG [ Orphanet:263501 ]

definition

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_263501, http://identifiers.org/snomedct/718751000, http://purl.obolibrary.org/obo/DOID_0070262, https://omim.org/entry/613489, http://linkedlifedata.com/resource/umls/id/C3150736

has exact synonym

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

has related synonym

CDG IIj, COG4-CDG (CDG-IIj), congenital disorder of glycosylation, type IIj

id

MONDO:0013281