Severe Combined Immunodeficiency due to RAG Deficiency

Preferred Label : Severe Combined Immunodeficiency due to RAG Deficiency;

NCIt synonyms : Severe Combined Immunodeficiency with RAG Deficiency;

NCIt definition : A rare severe combined immunodeficiency disorder caused by null mutations in recombination activating gene (RAG) 1 or RAG2. It is associated with a lack of T and B cells.;

NCI Metathesaurus CUI : CL1922641;

Détails

Origin ID

C203453;

UMLS CUI

C5909261;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- RAG1 Gene [NCIt concept]
- RAG2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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