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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 histiocytosis that is characterized by clonal proliferation of Langerhans cells. (DO)
Synonyms:exact_synonym: EFO:1000318;   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 Granulomatosis;   Langerhans cell granulomatoses;   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;   Non Lipid Reticuloendotheliosis;   Non-Lipid Reticuloendothelioses;   Pulmonary Histiocytosis X;   Pulmonary Langerhans Cell Granulomatosis;   Schueller Christian Disease;   Systemic Aleukemic Reticuloendothelioses;   generalized histiocytoses;   systemic aleukemic reticuloendotheliosis;   type 2 histiocytoses;   type 2 histiocytosis
 narrow_synonym: 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
 primary_id: MESH:D006646
 alt_id: MIM:604856
 xref: EFO:1000318;   ICD10CM:C96.0;   ICD10CM:C96.6;   ICD9CM:202.5;   ICDO:9751/1;   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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          interstitial lung disease 554
            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 19099
    disease of anatomical entity 18440
      respiratory system disease 5241
        lower respiratory tract disease 2357
          lung disease 2318
            interstitial lung disease 554
              Langerhans-cell histiocytosis 1
                Eosinophilic Granuloma 0
                Familial Letterer-Siwe Disease 0
                Hashimoto-Pritzker Syndrome 0
paths to the root