JSON

congenital disorder of glycosylation type II

Go to external page http://purl.obolibrary.org/obo/MONDO_0005501

A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. [ http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification DOID:0050571 ]

Synonyms: congenital disorder of glycosylation type II congenital disorders of glycosylation, type II

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535747 (MONDO:equivalentTo)
  • EFO:0005546 (MONDO:equivalentTo)
  • OMIMPS:212066 (MONDO:equivalentTo)
  • DOID:0050571 (MONDO:equivalentTo)
Subsets

rare, inferred_rare, clingen

exactMatch

https://omim.org/phenotypicSeries/PS212066

http://identifiers.org/mesh/C535747

http://purl.obolibrary.org/obo/DOID_0050571

has related synonym

MOGS-CDG

B4GALT1-CDG (CDG-2d)

MGAT2-CDG

B4GALT1-CDG

MOGS-CDG (CDG-2b)

MGAT2-CDG (CDG-2a)

id

MONDO:0005501

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0005501

Term relations