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DO Term : immunodeficiency 46 [DOID:0111948] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29.
  • synonyms:
  • UMLS_CUI:C5568133,
  • SNOMEDCT_US_2023_09_01:1179288008,
  • IMD46,
  • combined immunodeficiency due to TFRC deficiency,
  • ORDO:476113,
  • TFRC-related combined immunodeficiency,
  • CID due to TFRC deficiency,
  • 616740,
  • OMIM:616740
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Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents