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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:Langerhans-cell histiocytosis
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Accession:DOID:2571 term browser browse the term
Definition:A group of disorders resulting from the abnormal proliferation of and tissue infiltration by LANGERHANS CELLS which can be detected by their characteristic Birbeck granules (X bodies), or by monoclonal antibody staining for their surface CD1 ANTIGENS. Langerhans-cell granulomatosis can involve a single organ, or can be a systemic disorder.
Synonyms:exact_synonym: Generalized Histiocytosis;   Hand Schueller Christian Disease;   Hand Schueller Christian Syndrome;   Hand Schüller Christian Disease;   Hand Schüller Christian Syndrome;   Hashimoto-Pritzger Disease;   Histiocytosis X;   Langerhan's cell histiocytosis;   Langerhans Cell Granulomatoses;   Langerhans Cell Granulomatosis;   Langerhans Cell Histiocytoses;   Letterer Siwe Disease;   Letterer-Siwe disease involving intra-abdominal lymph nodes;   Letterer-Siwe disease involving intrapelvic lymph nodes;   Letterer-Siwe disease involving intrathoracic lymph nodes;   Letterer-Siwe disease involving lymph nodes of axilla and upper limb;   Letterer-Siwe disease involving lymph nodes of head, face, and neck;   Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb;   Letterer-Siwe disease involving lymph nodes of multiple sites;   Letterer-Siwe disease involving spleen;   Letterer-Siwe disease of intra-abdominal lymph nodes;   Letterer-Siwe disease of intrapelvic lymph nodes;   Letterer-Siwe disease of intrathoracic lymph nodes;   Letterer-Siwe disease of lymph nodes of axilla and upper limb;   Letterer-Siwe disease of lymph nodes of axilla and/or upper limb;   Letterer-Siwe disease of lymph nodes of head, face and neck;   Letterer-Siwe disease of lymph nodes of head, face and/or neck;   Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb;   Letterer-Siwe disease of lymph nodes of inguinal region and lower limb;   Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb;   Letterer-Siwe disease of lymph nodes of multiple sites;   Letterer-Siwe disease of spleen;   Non Lipid Reticuloendotheliosis;   Non-Lipid Reticuloendothelioses;   Pulmonary Histiocytosis X;   Pulmonary Langerhans Cell Granulomatosis;   Schueller Christian Disease;   Systemic Aleukemic Reticuloendothelioses;   Systemic Aleukemic Reticuloendotheliosis;   Type 2 Histiocytoses;   generalized histiocytoses;   type 2 histiocytosis
 primary_id: MESH:D006646
 alt_id: OMIM:604856;   RDO:0001177
 xref: ICD10CM:C96.0;   ICD10CM:C96.6;   ICD9CM:202.5;   NCI:C158785;   NCI:C3107;   NCI:C3160;   NCI:C6920
For additional species annotation, visit the Alliance of Genome Resources.

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Langerhans-cell histiocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISS OMIM:246400 | OMIM:604856 MouseDO NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        connective tissue disease 3626
          interstitial lung disease 354
            Langerhans-cell histiocytosis 1
              Eosinophilic Granuloma 0
              Familial Letterer-Siwe Disease 0
              Hashimoto-Pritzker Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          lymphatic system disease 1102
            histiocytosis 60
              Langerhans-cell histiocytosis 1
                Eosinophilic Granuloma 0
                Familial Letterer-Siwe Disease 0
                Hashimoto-Pritzker Syndrome 0
paths to the root