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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.


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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 OMIM

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Immune & Inflammatory Diseases 3881
        immune system disease 3249
          primary immunodeficiency disease 2694
            IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY 1
paths to the root