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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:common variable immunodeficiency 8
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Accession:DOID:0081151 term browser browse the term
Definition:A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. (DO)
Synonyms:exact_synonym: CVID8;   Common Variable Immunodeficiency 8, with Autoimmunity;   common variable immunodeficiency-8 (CVID8) with autoimmunity
 primary_id: OMIM:614700
 alt_id: DOID:9003811


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common variable immunodeficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 More... NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      primary immunodeficiency disease 4159
        autoimmune disease 2328
          common variable immunodeficiency 238
            common variable immunodeficiency 8 2
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      Immune & Inflammatory Diseases 5581
        immune system disease 4787
          lymphatic system disease 1675
            lymphoproliferative syndrome 1061
              agammaglobulinemia 294
                common variable immunodeficiency 238
                  common variable immunodeficiency 8 2
paths to the root