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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:IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
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Accession:DOID:9007079 term browser browse the term
Synonyms:exact_synonym: IGKCD;   KAPPA CHAIN DEFICIENCY
 primary_id: MESH:C564131;   OMIM:614102;   RDO:0013191
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igkc immunoglobulin kappa constant ISO ClinVar Annotator: match by term: Immunoglobulin kappa light chain deficiency OMIM
ClinVar		 PMID:815819 PMID:3931219
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      primary immunodeficiency disease 4504
        IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      Immune & Inflammatory Diseases 5897
        immune system disease 5108
          primary immunodeficiency disease 4504
            IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY 1
paths to the root