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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
 broad_synonym: INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED
 related_synonym: INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST
 primary_id: OMIM:607676
 alt_id: MESH:C563662;   MESH:C564352
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:607676
ClinVar Annotator: match by term: IRAK4 deficiency
OMIM
ClinVar
PMID:9536098 PMID:9789052 PMID:12637671 PMID:12925671 PMID:15520784 PMID:16647421 PMID:16950813 PMID:17114497 PMID:17312103 PMID:17544092 PMID:17576681 PMID:17878374 PMID:17893200 PMID:19663824 PMID:20621347 PMID:21057262 PMID:23538514 PMID:24033266 PMID:24316379 PMID:25344726 PMID:25741868 PMID:26472314 PMID:26698383 PMID:26825884 PMID:28492532 PMID:30073964 NCBI chr 7:135,803,723...135,831,006
Ensembl chr 7:135,803,698...135,832,652
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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 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      primary immunodeficiency disease 2693
        Immunodeficiency 67 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease by infectious agent 1898
      Bacterial Infections and Mycoses 782
        bacterial infectious disease 617
          Gram-Positive Bacterial Infections 225
            Streptococcal Infections 84
              Pneumococcal Infections 59
                Immunodeficiency 67 2
paths to the root