5C54.2
Disorders of multiple glycosylation or other pathways
Distúrbios de glicosilação múltipla e/ou outras vias
CategoryIndex Terms
Disorders of multiple glycosylation or other pathwaysDolichol-phosphate-mannose synthase 1 deficiencyGDP-Man: Dol-P-mannosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome type 1ECongenital disorder of glycosylation type 1ECDG - [Congenital disorder of glycosylation] syndrome type 1EMannose-P-dolichol utilisation defect 1Lec35 deficiencyCarbohydrate deficient glycoprotein syndrome type 1FCongenital disorder of glycosylation type 1FCDG - [Congenital disorder of glycosylation] syndrome type 1FBeta-1,4-galactosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome type 2DCongenital disorder of glycosylation type 2DCDG - [Congenital disorder of glycosylation] syndrome type 2DCMP-sialic acid transporter deficiencyCDG - [Congenital disorder of glycosylation] syndrome type 2FCarbohydrate deficient glycoprotein syndrome type 2FCongenital disorder of glycosylation type 2FLeukocyte adhesion deficiency type 2Rambam-Hasharon syndromeGDP-fucose transporter deficiencyLAD-II - [Leukocyte adhesion deficiency type 2]CDG - [Congenital disorder of glycosylation] syndrome type 2CDolichol kinase deficiencyHypotonia or ichthyosis due to dolichol phosphate deficiencyCarbohydrate deficient glycoprotein syndrome type 1MCongenital disorder of glycosylation type 1MCDG - [Congenital disorder of glycosylation] syndrome type 1MConserved oligomeric Golgi complex deficienciesComponent of conserved oligomeric Golgi complex 1 deficiencyCDG syndrome type 2GComponent of conserved oligomeric Golgi complex 4 deficiencyCDG - [Congenital disorder of glycosylation] syndrome type 2JCongenital disorder of glycosylation type 2JComponent of conserved oligomeric Golgi complex 5 deficiencyComponent of conserved oligomeric Golgi complex 7 deficiencyCarbohydrate deficient glycoprotein syndrome type 2ECongenital disorder of glycosylation type 2ECDG - [Congenital disorder of glycosylation] syndrome type 2EComponent of conserved oligomeric Golgi complex 8 deficiencyCongenital disorder of glycosylation type 2hCarbohydrate deficient glycoprotein syndrome type 2HCDG - [[Congenital disorder of glycosylation] syndrome type 2HV-ATPase deficiencies