RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. (DO)
Synonyms:
exact_synonym:
ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY; OMIA:001986; SCID due to complete RAG1-2 deficiency; SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive; SEVERE IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T-CELL NEGATIVE, B-CELL NEGATIVE, NK CELL-POSITIVE; Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive; severe combined immunodeficiency due to complete RAG1-2 deficiency; severe combined immunodeficiency, B cell-negative
related_synonym:
severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
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