C126339Level 7
PGM3-Associated Immunodeficiency
**Semantic type:** Disease or Syndrome
**Definition:** A condition of decreased or absent presence or activity of phosphoglucomutase 3. Deficiency of this protein is associated with immunodeficiency 23.
**Synonyms:** - IMD 23 - Immunodeficiency 23 - PGM3 Deficiency - PGM3 Phosphoglucomutase Deficiency - PGM3 deficiency
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