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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 36
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Accession:DOID:0111949 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. (DO)
Synonyms:exact_synonym: IMD36;   activated phosphoinositide 3-kinase delta syndrome 2;   immunodeficiency-36 with lymphoproliferation
 primary_id: OMIM:616005
 xref: NCI:C176703


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immunodeficiency 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 36		 OMIM
CTD
ClinVar		 PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 More... NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      primary immunodeficiency disease 4152
        combined immunodeficiency 896
          combined T cell and B cell immunodeficiency 337
            immunodeficiency 36 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal dominant disease 6310
                immunodeficiency 36 1
paths to the root