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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,
Echinobase Genes : alg12, cog8, alg11, alg8, tmem165, cog7, mpdu1, cog6, mpi, alg9, slc35a1, mogs, mgat2, ddost, alg3,
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
carbohydrate metabolic disorder (is_a)