PGM3-related congenital disorder of glycosylation

Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)

active

Code	`1187623009`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20220131

Synonyms

Combined immunodeficiency due to PGM3 (phosphoglucomutase 3) deficiency
PGM3-CDG - phosphoglucomutase 3-related congenital disorder of glycosylation
Phosphoglucomutase 3-related congenital disorder of glycosylation

Parents (4)

85995004Autosomal recessive hereditary disorder disorder
238049009Carbohydrate-deficient glycoprotein syndrome disorder
36138009Congenital immunodeficiency disease disorder
191009009Hyperimmunoglobulin E syndrome disorder

Children (0)

None (leaf concept).