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RGD uses the Human Disease Ontology (DO, 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
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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.

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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: Agammaglobulinemia X-linked type 2 OMIM
PMID:29636373 NCBI chr  X:37,790,004...38,196,365
Ensembl chr  X:37,790,586...38,196,204
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        B cell deficiency 89
          immunodeficiency 61 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Immune & Inflammatory Diseases 3578
        immune system disease 2948
          Immunoproliferative Disorders 686
            lymphoproliferative syndrome 677
              agammaglobulinemia 63
                X-linked agammaglobulinemia 3
                  immunodeficiency 61 1
paths to the root