PIK3R1 Deficiency

Preferred Label : PIK3R1 Deficiency;

NCIt definition : A deficiency caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is associated with autosomal recessive agammaglobulinemia 7, immunodeficiency 36 and SHORT (short stature, hyperextensibility of joints or hernia, ocular depression, Rieger anomaly, teething delay) syndrome.;

NCI Metathesaurus CUI : CL1642634;

Details

Origin ID

C176631;

UMLS CUI

C5447337;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PIK3R1 Gene [NCIt concept]
related_to_genetic_biomarker
- PIK3R1 Gene [NCIt concept]

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