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DO Term : severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive [DOID:0090013] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID,
ICD10CM:D81.1,
OMIM:601457,
601457,
MESH:C563311,
Severe combined immunodeficiency due to complete RAG1-2 deficiency,
ORDO:331206,
SCID due to complete RAG1-2 deficiency

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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