MeSH Browser

MeSH Supplementary: NGLY1 deficiency
Unique ID: C000626124
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C000626124
Entry Term(s): Alacrimia-choreoathetosis-liver dysfunction syndrome; Congenital disorder of deglycosylation; Congenital disorder of glycosylation, type Iv
Registry Numbers: 0
Heading Mapped to: *Congenital Disorders of Glycosylation; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / deficiency
Frequency: 38
Date of Entry: 2018/02/02
Revision Date: 2018/02/02

NGLY1 deficiency MeSH Supplementary Concept Data 2025