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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:X-linked lymphoproliferative syndrome 1
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Accession:DOID:0060705 term browser browse the term
Definition:A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. (DO)
Synonyms:exact_synonym: SH2D1A-RELATED CONDITION;   XLP1
 primary_id: OMIM:308240
 xref: GARD:7906;   NCI:C170434


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X-linked lymphoproliferative syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO
ISS		 OMIM:308240
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition		 OMIM
MouseDO
ClinVar		 PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 More... NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 PMID:28492532 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 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        lymphoproliferative syndrome 1053
          X-linked lymphoproliferative syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            X-linked monogenic disease 1363
              X-linked recessive disease 581
                X-linked lymphoproliferative syndrome 1 4
paths to the root