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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:Subcutaneous Panniculitis-like T-Cell Lymphoma
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Accession:DOID:9008980 term browser browse the term
Definition:Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative. SPTCL is conferred by homozygous or compound heterozygous mutation in the HAVCR2 gene on chromosome 5q33. (OMIM)
Synonyms:exact_synonym: SPTCL
 primary_id: MESH:C537503
 alt_id: OMIM:618398;   RDO:0003353
For additional species annotation, visit the Alliance of Genome Resources.



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Subcutaneous Panniculitis-like T-Cell Lymphoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
CTD
OMIM
ClinVar
PMID:25741868 PMID:30374066 PMID:30792187 NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        dermatomyositis 35
          panniculitis 10
            Subcutaneous Panniculitis-like T-Cell Lymphoma 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    myositis 78
                      polymyositis 40
                        dermatomyositis 35
                          panniculitis 10
                            Subcutaneous Panniculitis-like T-Cell Lymphoma 1
paths to the root