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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:immunodeficiency 32B
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Accession:DOID:0111985 term browser browse the term
Definition:A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in IRF8 on chromosome 16q24.1. (DO)
Synonyms:exact_synonym: IMD32B;   IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE;   IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE;   monocyte and dendritic cell deficiency, autosomal recessive
 primary_id: OMIM:226990
For additional species annotation, visit the Alliance of Genome Resources.

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immunodeficiency 32B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Immunodeficiency 32b
ClinVar Annotator: match by term: Monocyte and dendritic cell deficiency, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE		 ClinVar
CTD
OMIM		 PMID:6279813 PMID:21524210 PMID:25122610 PMID:25741868 PMID:26038974 PMID:27893462 PMID:28492532 NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      hematopoietic system disease 1639
        leukocyte disease 493
          immunodeficiency 32B 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                immunodeficiency 32B 1
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