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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 OMIM:613011
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
OMIM
ClinVar
PMID:8985255 PMID:19425169 PMID:19717557 PMID:21109689 PMID:22289921 PMID:25741868 PMID:28492532 NCBI chr10:31,431,820...31,493,413
Ensembl chr10:31,431,809...31,493,419
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      primary immunodeficiency disease 2364
        lymphoproliferative syndrome 677
          lymphoproliferative syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                lymphoproliferative syndrome 1 1
paths to the root