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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



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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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:16199547 PMID:23000145 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                Hereditary Autoinflammatory Diseases 344
                  Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
paths to the root