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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:Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated
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Accession:DOID:9005237 term browser browse the term
Synonyms:exact_synonym: APLAID;   autoinflammation, antibody deficiency, and immune dysregulation syndrome
 primary_id: OMIM:614878
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated OMIM
ClinVar		 PMID:23000145 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30619256 More... NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      primary immunodeficiency disease 4504
        Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
Path 2
Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Signs and Symptoms 10864
        Neurologic Manifestations 10112
          sensory system disease 7132
            skin disease 4324
              Genetic Skin Diseases 1988
                Hereditary Autoinflammatory Diseases 571
                  Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
paths to the root