About   Help   FAQ
Disease Ontology Browser
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive (DOID:0090014)
Alliance: disease page
Synonyms: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
Alt IDs: OMIM:608971, ICD10CM:D81.2, ORDO:169154
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.20
The Jackson Laboratory