PGM3-Associated Immunodeficiency

Preferred Label : PGM3-Associated Immunodeficiency;

NCIt synonyms : Immunodeficiency 23; PGM3 Deficiency; IMD 23;

NCIt related terms : PGM3 Phosphoglucomutase Deficiency;

NCIt definition : A condition of decreased or absent presence or activity of phosphoglucomutase 3. Deficiency of this protein is associated with immunodeficiency 23.;

NCI Metathesaurus CUI : CL504905;

Details

Origin ID

C126339;

UMLS CUI

C4014371;

Currated CISMeF NLP mapping
- Immunodeficiency 23 [OMIM Phenotype]
- PGM3-CDG [ORDO Disease]
- Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- immunodeficiency 23 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 23 [OMIM Phenotype]
- Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- immunodeficiency 23 [DO Concept]
disease_mapped_to_gene
- PGM3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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