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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: XLP1
 primary_id: OMIM:308240
 xref: GARD:7906;   NCI:C170434
For additional species annotation, visit the Alliance of Genome Resources.



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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 Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked OMIM
ClinVar
PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 PMID:10556288 More... NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Xiap X-linked inhibitor of apoptosis ISS
ISO
OMIM:308240
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked
MouseDO
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 18030
    syndrome 9456
      primary immunodeficiency disease 3717
        lymphoproliferative syndrome 890
          X-linked lymphoproliferative syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            X-linked monogenic disease 1182
              X-linked recessive disease 439
                X-linked lymphoproliferative syndrome 1 2
paths to the root