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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
 xref: MESH:C567815;   MIM:613011;   MONDO:0013081


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lymphoproliferative syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,122,653...31,242,440
Ensembl chr10:31,122,653...31,242,440 		JBrowse link
G Fndc9 fibronectin type III domain containing 9 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:30,664,435...30,668,213
Ensembl chr10:31,154,346...31,179,698 		JBrowse link
G Garin3 golgi associated RAB2 interactor family member 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:30,829,877...30,833,115
Ensembl chr10:31,331,177...31,334,430 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,619,897...31,653,268 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,383,801...31,415,334
Ensembl chr10:31,383,925...31,413,872 		JBrowse link
G Itk IL2-inducible T-cell kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 		OMIM
CTD
ClinVar		 PMID:8985255 PMID:9536098 PMID:16199547 PMID:16860760 PMID:17412921 More... NCBI chr10:31,254,667...31,316,004
Ensembl chr10:31,254,667...31,316,004 		JBrowse link
G Med7 mediator complex subunit 7 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:30,842,330...30,857,873
Ensembl chr10:31,343,361...31,361,017 		JBrowse link
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,085,267...31,101,979
Ensembl chr10:31,085,267...31,101,979 		JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,847,713...32,829,554
Ensembl chr10:31,781,748...32,419,064 		JBrowse link
G Timd4 T-cell immunoglobulin and mucin domain containing 4 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 ClinVar PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532 NCBI chr10:31,686,994...31,723,095
Ensembl chr10:31,686,862...31,723,077 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        lymphoproliferative syndrome 1150
          lymphoproliferative syndrome 1 10
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                lymphoproliferative syndrome 1 10
paths to the root