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DO Term : X-linked severe combined immunodeficiency [DOID:0060013] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
  • synonyms:
  • MESH:D053632,
  • NCI:C4682,
  • XSCID,
  • OMIM:300400,
  • gamma chain deficiency,
  • UMLS_CUI:C1279481,
  • SNOMEDCT_US_2023_03_01:203592006,
  • thymic epithelial hypoplasia,
  • SCID-X1,
  • 300400,
  • DOID:5811,
  • GARD:5618
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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