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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;   IRAK4D;   Invasive Pneumococcal Disease, Recurrent Isolated, 1
 narrow_synonym: Invasive Pneumococcal Disease, Recurrent Isolated
 broad_synonym: IRAK-4 deficiency;   IRAK4 deficiency
 related_synonym: Invasive Pneumococcal Disease, Protection Against
 xref: MESH:C564352;   MIM:607676;   MONDO:0011888


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 67 | ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated 		OMIM
CTD
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 8:41,789,557...41,805,903
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 19143
    syndrome 11406
      primary immunodeficiency disease 4483
        Immunodeficiency 67 2
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      Immune & Inflammatory Diseases 5759
        immune system disease 5077
          primary immunodeficiency disease 4483
            Immunodeficiency 67 2
paths to the root