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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 32A
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Accession:DOID:0111986 term browser browse the term
Definition: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 IRF8 on chromosome 16q24.1. (DO)
Synonyms:exact_synonym: CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT;   IMD32A;   IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;   IRF8 deficiency, autosomal dominant;   MSMD due to partial IRF8 deficiency;   MSMD due to partial interferon regulatory factor 8 deficiency;   Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency;   Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
 primary_id: OMIM:614893
 xref: ORDO:319600
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 32A 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 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT OMIM
ClinVar
PMID:21524210 NCBI chr19:48,790,483...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      primary immunodeficiency disease 2705
        dendritic cell deficiency 1
          immunodeficiency 32A 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                immunodeficiency 32A 1
paths to the root