immunodeficiency 23
MONDO:0017749
disorder of multiple glycosylation
is_a
MONDO:0021094
immunodeficiency disease
is_a
CID due to PGM3 deficiency
exact
IMD23
exact
PGM3-CDG
exact
PGM3-EXACT congenital disorder of glycosylation
exact
combined immunodeficiency due to PGM3 deficiency
exact
combined inflammatory and immunologic defect
exact
immunodeficiency 23
exact
immunodeficiency type 23
exact
immunodeficiency with hyper IgE and cognitive impairment
exact
immunodeficiency-vasculitis-myoclonus syndrome
exact
phosphoglucomutase 3 deficiency
exact
phosphoglucomutase deficiency type 3
exact
SPAC1296.01c SPAC13C5.05c