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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:X-linked agammaglobulinemia
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Accession:DOID:14179 term browser browse the term
Definition:An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. (DO)
Synonyms:exact_synonym: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1;   AGMX1;   Agammaglobulinemia, BTK;   Agammaglobulinemia, X-Linked, Type I;   BTK deficiency;   Bruton agammaglobulinemia tyrosine kinase deficiency;   Bruton's Agammaglobulinemia;   Bruton's agammaglobulinaemia;   Bruton's sex-linked agammaglobulinemia;   Bruton's type agammaglobulinemia;   Bruton-type (congenital X-linked) agammaglobulinemia;   Bruton-type agammaglobulinemia;   IMD1;   XLA;   agammaglobulinemia, Bruton tyrosine kinase;   congenital agammaglobulinemia;   immunodeficiency 1
 narrow_synonym: X-linked hypoagammaglobulinemia;   X-linked hypogammaglobulinemia
 primary_id: MESH:C537409
 alt_id: OMIM:300755
 xref: NCI:C3822;   ORDO:47
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO ClinVar Annotator: match by OMIM:300755
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Hypoagammaglobulinemia, X-linked
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1
ClinVar Annotator: match by term: X-linked agammaglobulinemia
human gene in a mouse model
Human gene in mouse model
OMIM
ClinVar
RGD
PMID:2896233 PMID:4697357 PMID:7554467 PMID:7633429 PMID:7678697 More... RGD:11040588, RGD:11040698, RGD:124713551, RGD:124715475 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers 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
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 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        lymphoproliferative syndrome 778
          agammaglobulinemia 162
            X-linked agammaglobulinemia 3
              immunodeficiency 61 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          Immunoproliferative Disorders 788
            lymphoproliferative syndrome 778
              agammaglobulinemia 162
                X-linked agammaglobulinemia 3
                  immunodeficiency 61 1
paths to the root