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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, X-Linked, Type I;   BTK deficiency;   Bruton agammaglobulinemia tyrosine kinase deficiency;   Bruton disease;   Bruton's agammaglobulinaemia;   Bruton's agammaglobulinemia;   Bruton's sex-linked agammaglobulinemia;   Bruton's type agammaglobulinemia;   Bruton-type (congenital X-linked) agammaglobulinemia;   Bruton-type agammaglobulinemia;   IMD1;   XLA;   agammaglobulinemia, BTK;   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: EFO:0003079;   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 agammaglobulinemia tyrosine kinase ameliorates ISO
IAGP		 DNA:mutations:exon, intron:multiple
OMIM:300310 | OMIM:300755
human gene in a mouse model
Human gene in mouse model
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked agammaglobulinemia		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 More... RGD:11040588, RGD:11040698, RGD:124713551, RGD:124715475 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IAGP OMIM:300310 | OMIM:300755 MouseDO NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3-domain kinase binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AGMX2 | ClinVar Annotator: match by term: Immunodeficiency 61		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29636373 NCBI chr  X:158,409,888...158,758,916
Ensembl chr  X:158,410,268...158,761,065 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      primary immunodeficiency disease 3856
        lymphoproliferative syndrome 1030
          agammaglobulinemia 295
            X-linked agammaglobulinemia 3
              immunodeficiency 61 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Immune & Inflammatory Diseases 5172
        immune system disease 4464
          Immunoproliferative Disorders 1038
            lymphoproliferative syndrome 1030
              agammaglobulinemia 295
                X-linked agammaglobulinemia 3
                  immunodeficiency 61 1
paths to the root