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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 Hypogammaglobulinemia
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Accession:DOID:9004143 term browser browse the term
Synonyms:primary_id: MESH:C562478
For additional species annotation, visit the Alliance of Genome Resources.


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X-Linked Hypogammaglobulinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by null ClinVar PMID:8758136 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      primary immunodeficiency disease 2346
        lymphoproliferative syndrome 676
          agammaglobulinemia 62
            X-Linked Hypogammaglobulinemia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          Immunoproliferative Disorders 684
            lymphoproliferative syndrome 676
              agammaglobulinemia 62
                X-Linked Hypogammaglobulinemia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.