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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:lymphoproliferative syndrome 2
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Accession:DOID:0060708 term browser browse the term
Definition:A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: CD27 deficiency;   LPFS2
 primary_id: OMIM:615122
 alt_id: RDO:9000525
For additional species annotation, visit the Alliance of Genome Resources.


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lymphoproliferative syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd27 CD27 molecule ISO ClinVar Annotator: match by OMIM:615122
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2		 OMIM
ClinVar		 PMID:22197273 PMID:22801960 PMID:24033266 PMID:25741868 PMID:25843314 More... NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 ClinVar PMID:25741868 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        lymphoproliferative syndrome 778
          lymphoproliferative syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                lymphoproliferative syndrome 2 2
paths to the root