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

Summary

DOID:0090014 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive

Disease Ontology Definition:A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.

Synonyms: autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID, autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID

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

: il7r, ptprc

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012163 - immunodeficiency 104

MONDO:0012163 - immunodeficiency 104

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)