Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 33
go back to main search page
Accession:DOID:0112003 term browser browse the term
Definition:A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in IKBKG on chromosome Xq28. (DO)
Synonyms:exact_synonym: AMCBX1;   Atypical Mycobacterial Infection, Disseminated, X-Linked 1;   Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1;   Atypical Mycobacteriosis, Familial, X-Linked 1;   IMD33;   IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED;   IPD2;   Immunodeficiency without Anhidrotic Ectodermal Dysplasia;   X-linked MSMD due to IKBKG deficiency;   X-linked MSMD due to NEMO deficiency;   X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency;   X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency;   X-linked mycobacterial disease, susceptibility to, 1;   isolated immunodeficiency;   pure immunodeficiency;   recurrent isolated invasive pneumococcal disease 2
 primary_id: OMIM:300636
 alt_id: MESH:C536289;   MESH:C564468;   MESH:C567070
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
immunodeficiency 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by OMIM:300636
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia
ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated, 2
OMIM
ClinVar
PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      primary immunodeficiency disease 2707
        combined immunodeficiency 183
          immunodeficiency 33 2
Path 2
Term Annotations click to browse term
  disease 17207
    disease by infectious agent 1915
      Bacterial Infections and Mycoses 794
        bacterial infectious disease 629
          Gram-Positive Bacterial Infections 229
            Actinomycetales Infections 164
              Mycobacterium Infections 163
                Nontuberculous Mycobacterium Infections 25
                  immunodeficiency 33 2
paths to the root