congenital disorder of glycosylation

Go to external page http://purl.obolibrary.org/obo/DOID_5212


A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. [ url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation http://purl.obolibrary.org/obo/ECO_0007638 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:PS212065
  • SNOMEDCT_US_2021_03_01:238049009
  • UMLS_CUI:C0282577
  • MESH:D018981
  • ORDO:137
  • NCI:C84615
  • GARD:10307
Subsets

DO_rare_slim, NCIthesaurus

comment

Xref MGI.

definition

A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

has exact synonym

carbohydrate-deficient glycoprotein syndrome

has obo namespace

disease_ontology

id

DOID:5212