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Congenital disorder of glycosylation type 1B MeSH Supplementary Concept Data 2024


MeSH Supplementary
Congenital disorder of glycosylation type 1B
Unique ID
C535740
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535740
Entry Term(s)
Carbohydrate-deficient glycoprotein syndrome type 1B
Mannosephosphate isomerase deficiency
Protein-losing enteropathy-hepatic fibrosis syndrome
Saguenay-Lac Saint-Jean syndrome
Registry Number
0
Heading Mapped to
Mannose-6-Phosphate Isomerase / *deficiency
*Congenital Disorders of Glycosylation
Frequency
3
Date of Entry
2010/08/25
Revision Date
2013/11/06
Congenital disorder of glycosylation type 1B Preferred
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