5C54.2
category
Disorders of multiple glycosylation or other pathways
Also indexed as
Beta-1,4-galactosyltransferase deficiencyCDG - [Congenital disorder of glycosylation] syndrome type 1ECDG - [Congenital disorder of glycosylation] syndrome type 1FCDG - [Congenital disorder of glycosylation] syndrome type 1MCDG - [Congenital disorder of glycosylation] syndrome type 2CCDG - [Congenital disorder of glycosylation] syndrome type 2DCDG - [Congenital disorder of glycosylation] syndrome type 2ECDG - [Congenital disorder of glycosylation] syndrome type 2FCDG - [Congenital disorder of glycosylation] syndrome type 2JCDG - [[Congenital disorder of glycosylation] syndrome type 2HCDG syndrome type 2GCMP-sialic acid transporter deficiencyCarbohydrate deficient glycoprotein syndrome type 1ECarbohydrate deficient glycoprotein syndrome type 1FCarbohydrate deficient glycoprotein syndrome type 1MCarbohydrate deficient glycoprotein syndrome type 2DCarbohydrate deficient glycoprotein syndrome type 2ECarbohydrate deficient glycoprotein syndrome type 2FCarbohydrate deficient glycoprotein syndrome type 2HComponent of conserved oligomeric Golgi complex 1 deficiencyComponent of conserved oligomeric Golgi complex 4 deficiencyComponent of conserved oligomeric Golgi complex 5 deficiencyComponent of conserved oligomeric Golgi complex 7 deficiencyComponent of conserved oligomeric Golgi complex 8 deficiencyCongenital disorder of glycosylation type 1ECongenital disorder of glycosylation type 1FCongenital disorder of glycosylation type 1MCongenital disorder of glycosylation type 2DCongenital disorder of glycosylation type 2ECongenital disorder of glycosylation type 2FCongenital disorder of glycosylation type 2JCongenital disorder of glycosylation type 2hConserved oligomeric Golgi complex deficienciesDisorders of multiple glycosylation or other pathwaysDolichol kinase deficiencyDolichol-phosphate-mannose synthase 1 deficiencyGDP-Man: Dol-P-mannosyltransferase deficiencyGDP-fucose transporter deficiencyHypotonia or ichthyosis due to dolichol phosphate deficiencyLAD-II - [Leukocyte adhesion deficiency type 2]Lec35 deficiencyLeukocyte adhesion deficiency type 2Mannose-P-dolichol utilisation defect 1Rambam-Hasharon syndromeV-ATPase deficiencies