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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 67
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Accession:DOID:9003909 term browser browse the term
Definition:An autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. (OMIM)
Synonyms:exact_synonym: IMD67;   IPD1;   IRAK-4 deficiency;   IRAK4 deficiency;   IRAK4D;   Invasive Pneumococcal Disease, Recurrent Isolated, 1
 narrow_synonym: INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED
 related_synonym: INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST
 primary_id: OMIM:607676
 alt_id: MESH:C564352
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Immunodeficiency 67 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irak4 interleukin-1 receptor-associated kinase 4 ISO ClinVar Annotator: match by term: Immunodeficiency 67 | ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated OMIM
ClinVar		 PMID:9536098 PMID:9789052 PMID:12637671 PMID:12925671 PMID:15520784 More... NCBI chr 7:125,682,502...125,708,294
Ensembl chr 7:125,682,488...125,717,837 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against ClinVar PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      primary immunodeficiency disease 4504
        Immunodeficiency 67 2
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      Immune & Inflammatory Diseases 5897
        immune system disease 5108
          primary immunodeficiency disease 4504
            Immunodeficiency 67 2
paths to the root