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

Echinobase 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

: rag1

MIM:

MIM:601457 - severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive

MIM:601457 - 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)