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Disease Ontology Browser
severe combined immunodeficiency 104 (DOID:0090014)
Alliance: disease page
Synonyms: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID; interleukin-7 receptor alpha deficiency; severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
Alt IDs: OMIM:608971, ICD10CM:D81.2, MESH:C563822, ORDO:169154
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.

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)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory