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DO Term : immunodeficiency 40 [DOID:0111951] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.
  • synonyms:
  • 616433,
  • UMLS_CUI:C4225328,
  • OMIM:616433,
  • GARD:12653,
  • DOCK2 deficiency,
  • NCI:C176799,
  • SNOMEDCT_US_2023_03_01:1197479002,
  • ORDO:447737,
  • IMD40
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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