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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:Immunodeficiency 97 with Autoinflammation
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Accession:DOID:9004179 term browser browse the term
Definition:An autosomal recessive complex immunologic disorder with variable features. Caused by compound heterozygous mutation in the PIK3CG gene on chromosome 7q22.
Synonyms:exact_synonym: IMD97
 primary_id: MIM:619802


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Immunodeficiency 97 with Autoinflammation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 97 with autoinflammation OMIM
ClinVar		 PMID:25741868 PMID:31554793 PMID:33054089 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      primary immunodeficiency disease 4421
        Immunodeficiency 97 with Autoinflammation 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10419
          sensory system disease 7329
            skin disease 4309
              Genetic Skin Diseases 1879
                Hereditary Autoinflammatory Diseases 362
                  Immunodeficiency 97 with Autoinflammation 1
paths to the root