Preferred Label : Congenital Disorder of Glycosylation Type Ih;
NCIt synonyms : CDGIh; ALG8-CDG;
NCIt definition : An autosomal recessive congenital disorder of glycosylation subtype caused by mutation(s)
in the ALG8 gene, encoding probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase.;
Origin ID : C206097;
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