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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


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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 term: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      primary immunodeficiency disease 4124
        lymphoproliferative syndrome 1041
          agammaglobulinemia 291
            X-Linked Hypogammaglobulinemia 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      Immune & Inflammatory Diseases 5535
        immune system disease 4747
          Immunoproliferative Disorders 1049
            lymphoproliferative syndrome 1041
              agammaglobulinemia 291
                X-Linked Hypogammaglobulinemia 1
paths to the root