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DO Term : immunodeficiency 23 [DOID:0111953] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1.
  • synonyms:
  • NCI:C126339,
  • GARD:4331,
  • 615816,
  • ORDO:443811,
  • OMIM:615816,
  • PGM3-related congenital disorder of glycosylation,
  • IMD23,
  • PGM3-CDG,
  • CID due to PGM3 deficiency,
  • combined immunodeficiency due to PGM3 deficiency,
  • UMLS_CUI:C4014371,
  • SNOMEDCT_US_2023_03_01:1187623009
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Disease

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Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents