Severe Combined Immunodeficiency due to RAG1 Deficiency

Preferred Label : Severe Combined Immunodeficiency due to RAG1 Deficiency;

NCIt synonyms : Severe Combined Immunodeficiency, T cell-Negative, B cell-Negative, RAG1; SCID-RAG1;

NCIt related terms : RAG1 Deficiency;

NCIt definition : An inherited condition caused by mutation(s) in the RAG1 gene, encoding V(D)J recombination-activating protein 1. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.;

NCI Metathesaurus CUI : CL1642663;

Details

Origin ID

C176606;

UMLS CUI

C5447328;

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

Keyword's position in hierarchy(ies) :

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