congenital disorder of glycosylation

Summary

DOID:5212 - congenital disorder of glycosylation

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

Synonyms: carbohydrate-deficient glycoprotein syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: alg2, cog6, pgm1, cog5, atp6ap1, dpagt1, cog8, cog2, dolk, alg8, ssr4, stt3b, cog7, tmem165, mpi, [+]

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0015286 - congenital disorder of glycosylation

MONDO:0015286 - congenital disorder of glycosylation

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): carbohydrate metabolic disorder (is_a), physical disorder (is_a)