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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 3
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Accession:DOID:9009027 term browser browse the term
Synonyms:exact_synonym: CD70 deficiency;   LPFS3
 alt_id: OMIM:618261
 xref: NCI:C168591
For additional species annotation, visit the Alliance of Genome Resources.


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Lymphoproliferative Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd70 Cd70 molecule ISO ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME 3 OMIM
ClinVar		 PMID:28011863 PMID:28011864 NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      primary immunodeficiency disease 4504
        lymphoproliferative syndrome 1025
          Lymphoproliferative Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      Immune & Inflammatory Diseases 5896
        immune system disease 5107
          Immunoproliferative Disorders 1034
            lymphoproliferative syndrome 1025
              Lymphoproliferative Syndrome 3 1
paths to the root