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 61
go back to main search page
Accession:DOID:0111999 term browser browse the term
Definition:A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in SH3KBP1 on chromosome Xp22.12. (DO)
Synonyms:exact_synonym: AGMX2;   IMD61;   X-linked agammaglobulinemia type 2;   XLA2
 primary_id: MESH:C538057
 alt_id: OMIM:300310
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
immunodeficiency 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 61 OMIM
ClinVar
PMID:29636373 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      primary immunodeficiency disease 3835
        B cell deficiency 282
          immunodeficiency 61 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Immune & Inflammatory Diseases 5187
        immune system disease 4499
          Immunoproliferative Disorders 918
            lymphoproliferative syndrome 907
              agammaglobulinemia 238
                X-linked agammaglobulinemia 3
                  immunodeficiency 61 1
paths to the root