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DOID:0090014 - severe combined immunodeficiency 104
Disease Ontology Definition:A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.
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, interleukin-7 receptor alpha deficiency, severe combined immunodeficiency 104, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
Xenbase Genes
:
il7r,
ptprc
| MONDO:0012163 - immunodeficiency 104 |
| MIM:608971 - IMMUNODEFICIENCY 104, SEVERE COMBINED; IMD104 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee