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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 68
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Accession:DOID:9001436 term browser browse the term
Definition:An autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. (OMIM)
Synonyms:exact_synonym: MYD88 deficiency;   MYD88D;   Recurrent Pyogenic Bacterial Infections Due To MYD88 Deficiency
 primary_id: MESH:C567379
 alt_id: OMIM:612260


show annotations for term's descendants           Sort by:
Immunodeficiency 68 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISO ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458 		JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:119,184,974...119,204,819
Ensembl chr 8:119,185,136...119,204,672 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18669862 PMID:19506249 More... NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Oxsr1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:118,972,754...119,062,027 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Slc22a13l1 solute carrier family 22 member 13-like 1 ISO ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:118,958,209...118,972,614
Ensembl chr 8:118,961,000...118,966,046 		JBrowse link
G Slc22a14 solute carrier family 22, member 14 ISO ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:118,894,537...118,916,416
Ensembl chr 8:118,895,259...118,908,255 		JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 8:119,093,466...119,128,858
Ensembl chr 8:119,096,029...119,128,848 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      primary immunodeficiency disease 4124
        Immunodeficiency 68 8
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      Immune & Inflammatory Diseases 5535
        immune system disease 4747
          primary immunodeficiency disease 4124
            Immunodeficiency 68 8
paths to the root