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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:JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA
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Accession:DOID:9008054 term browser browse the term
Definition:This disease is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies.
Synonyms:exact_synonym: JCOSL;   NFAT1 DEFICIENCY
 xref: OMIM:620232



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JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfatc2 nuclear factor of activated T-cells 2 ISO OMIM NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      musculoskeletal system disease 8247
        muscular disease 2129
          Contracture 135
            JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Immune & Inflammatory Diseases 5558
        immune system disease 4767
          primary immunodeficiency disease 4140
            lymphoproliferative syndrome 1054
              lymphoma 575
                non-Hodgkin lymphoma 485
                  B-cell lymphoma 346
                    JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA 1
paths to the root