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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 the IRF8 gene 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


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immunodeficiency 32B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fendrr FOXF1 adjacent non-coding developmental regulatory RNA ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,127,225...49,152,780
Ensembl chr19:49,121,214...49,153,240 		JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 32B		 CTD
OMIM
ClinVar		 PMID:6279813 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21524210 More... NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Mthfsd methenyltetrahydrofolate synthetase domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,164,266...49,178,233
Ensembl chr19:49,167,183...49,178,232 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      hematopoietic system disease 3339
        leukocyte disease 1308
          immunodeficiency 32B 5
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                immunodeficiency 32B 5
paths to the root