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NGLY1 deficiency MeSH Supplementary Concept Data 2024


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 Number
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 Preferred
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