severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive

Summary

DOID:0090013 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive

Disease Ontology Definition: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.

Synonyms: autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID, SCID due to complete RAG1-2 deficiency, Severe combined immunodeficiency due to complete RAG1-2 deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rag2, rag1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011086 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

MONDO:0011086 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), severe combined immunodeficiency (is_a)