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DO Term : immunodeficiency 32A [DOID:0111986] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
  • synonyms:
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,
  • Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency,
  • immunodeficiency 32A, mycobacteriosis, autosomal dominant,
  • 614893,
  • UMLS_CUI:C3808589,
  • ORDO:319600,
  • MSMD due to partial IRF8 deficiency,
  • OMIM:614893,
  • IMD32A,
  • MSMD due to partial interferon regulatory factor 8 deficiency
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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