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DO Term : immunodeficiency 22 [DOID:0111937] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
  • synonyms:
  • 615758,
  • severe combined immunodeficiency due to LCK deficiency,
  • SCID due to lymphocyte-specific protein tyrosine kinase deficiency,
  • severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency,
  • ORDO:280142,
  • IMD22,
  • UMLS_CUI:C4014233,
  • OMIM:615758,
  • NCI:C176808,
  • SCID due to LCK deficiency
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

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Ontology Term --> Direct parents





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