Preferred Label : Hypomorphic RAG1 Deficiency;
NCIt definition : A condition of decreased or absent presence or activity of V(D)J recombination-activating
protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined
immunodeficiency, b cell-negative, combined cellular and humoral immune defects with
granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe
cytomegalovirus infection, and autoimmunity.;
NCI Metathesaurus CUI : CL504904;
Origin ID : C126338;
UMLS CUI : C4288935;
Semantic type(s)
- disease_mapped_to_gene
- related_to_genetic_biomarker
