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DO Term : immunodeficiency 48 [DOID:0111943] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.
  • synonyms:
  • GARD:387,
  • OMIM:269840,
  • MESH:C537590,
  • IMD48,
  • UMLS_CUI:C1849236,
  • ORDO:911,
  • zeta-associated-protein 70 deficiency,
  • 269840,
  • combined immunodeficiency due to ZAP70 deficiency
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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