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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
 broad_synonym: BTK-RELATED CONDITION
 primary_id: MESH:C537409
 alt_id: MIM: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 tyrosine kinase ameliorates ISO
ISS		 DNA:mutations:exon, intron:multiple
human gene in a mouse model
Human gene in mouse model
CTD Direct Evidence: marker/mechanism
OMIM:300755
ClinVar Annotator: match by term: X-linked agammaglobulinemia		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 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...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia ClinVar PMID:25741868 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 61 | ClinVar Annotator: match by term: SH3KBP1-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 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 19104
    syndrome 11279
      primary immunodeficiency disease 4425
        lymphoproliferative syndrome 1137
          agammaglobulinemia 366
            X-linked agammaglobulinemia 4
              immunodeficiency 61 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      Immune & Inflammatory Diseases 5759
        immune system disease 5039
          Immunoproliferative Disorders 1145
            lymphoproliferative syndrome 1137
              agammaglobulinemia 366
                X-linked agammaglobulinemia 4
                  immunodeficiency 61 1
paths to the root