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

Disease Ontology Browser

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive (DOID:0090013)
Alliance: disease page
Synonyms: autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID; SCID due to complete RAG1-2 deficiency; Severe combined immunodeficiency due to complete RAG1-2 deficiency
Alt IDs: OMIM:601457, ICD10CM:D81.1, MESH:C563311, ORDO:331206
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.

Disease References using Mouse Models (2)

Allelic Composition	Genetic Background	Reference	Phenotypes
Rag2tm1Fwa/Rag2tm1Fwa	involves: 129S/SvEv * MF1	J:1935	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Prkdcscid/Prkdcscid	C.BKa-Prkdc^scid	J:6958	View

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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