NGLY1-deficiency Find_IDs Find_Terms Annotation
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created at 2018-12-10 11:29:28 UTC
updated at 2023-06-21 17:45:39 UTC
synonyms of NGLY1 deficiency.
61 entries
Label
Id
alacrimia-choreoathetosis-liver dysfunction syndrome omim:615273
CDDG omim:615273
CDG1V omim:615273
CDG Iv omim:615273
congenital disorder of deglycosylation omim:615273
congenital disorder of glycosylation type IV omim:615273
defects in glycoprotein degradation omim:615273
deficiency of N-glycanase 1 omim:615273
NGLY1-CDDG omim:615273
NGLY1-congenital disorder of deglycosylation omim:615273
NGLY1 deficiency omim:615273
NGLY1-deficiency omim:615273
NGLY1-related congenital disorder of deglycosylation omim:615273
N-glycanase 1 congenital disorder of deglycosylation omim:615273
disorders of glycoprotein metabolism omim:615273