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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.


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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 ClinVar Annotator: match by OMIM:614878
ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
OMIM
ClinVar
PMID:23000145 PMID:25741868 PMID:28492532 PMID:30619256 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      primary immunodeficiency disease 2693
        Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          skin disease 2943
            Genetic Skin Diseases 1041
              Hereditary Autoinflammatory Diseases 116
                Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
paths to the root