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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: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 the SH3KBP1 gene on chromosome Xp22.12. (DO)
Synonyms:exact_synonym: AGMX2;   IMD61;   X-linked agammaglobulinemia type 2;   XLA2
 primary_id: MESH:C538057
 alt_id: MIM:300310


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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: AGMX2 | ClinVar Annotator: match by term: Immunodeficiency 61
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 19100
    syndrome 11271
      primary immunodeficiency disease 4421
        B cell deficiency 440
          immunodeficiency 61 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Immune & Inflammatory Diseases 5757
        immune system disease 5038
          Immunoproliferative Disorders 1145
            lymphoproliferative syndrome 1137
              agammaglobulinemia 366
                X-linked agammaglobulinemia 4
                  immunodeficiency 61 1
paths to the root