Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 15B
go back to main search page
Accession:DOID:0111959 term browser browse the term
Definition:A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in IKBKB on chromosome 8p11.21. (DO)
Synonyms:exact_synonym: IMD15B
 primary_id: OMIM:615592
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
immunodeficiency 15B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO OMIM NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      primary immunodeficiency disease 2340
        IMMUNODEFICIENCY 15 14
          immunodeficiency 15B 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                immunodeficiency 15B 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.