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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 1
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Accession:DOID:0060707 term browser browse the term
Definition:A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: EBV-associated lymphoproliferative syndrome, autosomal 1;   LPFS1
 primary_id: MESH:C567815
 alt_id: OMIM:613011;   RDO:0012050
For additional species annotation, visit the Alliance of Genome Resources.



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lymphoproliferative syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 OMIM
ClinVar
PMID:8985255 PMID:9536098 PMID:16860760 PMID:17576681 PMID:19425169 More... NCBI chr10:30,753,339...30,814,685
Ensembl chr10:30,753,344...30,814,685
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      primary immunodeficiency disease 3835
        lymphoproliferative syndrome 907
          lymphoproliferative syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                lymphoproliferative syndrome 1 1
paths to the root