Activated PI3K Delta Syndrome 2

Preferred Label : Activated PI3K Delta Syndrome 2;

NCIt synonyms : Immunodeficiency 36; IMD36; APDS2; Activated PI3K-Delta Syndrome 2;

NCIt related terms : PIK3R1-Associated Immunodeficiency;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma.;

Details

Origin ID

C176703;

UMLS CUI

C4014934;

Currated CISMeF NLP mapping
- Immunodeficiency 36 with lymphoproliferation [OMIM Phenotype]
- immunodeficiency 36 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 36 with lymphoproliferation [OMIM Phenotype]
- immunodeficiency 36 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PIK3R1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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