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DO Term : MHC class II deficiency [DOID:5812] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
  • synonyms:
  • SCID due to absent class II HLA antigens,
  • bare lymphocyte syndrome type II,
  • NCI:C3895,
  • SNOMEDCT_US_2023_03_01:71904008,
  • MESH:D016511,
  • OMIM:209920,
  • UMLS_CUI:C0242583,
  • 209920,
  • ICD10CM:D81.6,
  • BLSII
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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