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Congenital disorder of glycosylation type 1X MeSH Supplementary Concept Data 2022


MeSH Supplementary
Congenital disorder of glycosylation type 1X
Unique ID
C535751
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535751
Registry Number
0
Heading Mapped to
*Thrombocytopenia
*Congenital Disorders of Glycosylation
Frequency
1
Note
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase
Date of Entry
2010/08/25
Congenital disorder of glycosylation type 1X Preferred
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