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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 chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    syndrome 10365
      primary immunodeficiency disease 3987
        Immunodeficiency 97 with Autoinflammation 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        Neurologic Manifestations 9796
          sensory system disease 6897
            skin disease 4049
              Genetic Skin Diseases 1840
                Hereditary Autoinflammatory Diseases 356
                  Immunodeficiency 97 with Autoinflammation 1
paths to the root