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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:systemic mastocytosis
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Accession:DOID:349 term browser browse the term
Definition:A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis.
Synonyms:exact_synonym: SMCD - systemic mast cell disease;   Systemic Mast-Cell Diseases;   systemic mast cell disease;   systemic mastocytoses;   systemic tissue mast cell disease
 primary_id: MESH:D034721
 alt_id: RDO:0005990
 xref: GARD:8616;   NCI:C9235
For additional species annotation, visit the Alliance of Genome Resources.


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systemic mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17420286 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mast cell disease, systemic
CTD
ClinVar
PMID:16597595, PMID:18559612 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
mast-cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Mast cell leukemia ClinVar PMID:7479840, PMID:7691885, PMID:8589724, PMID:9827716, PMID:9990072, PMID:11380399, PMID:11493470, PMID:15972446, PMID:16352739, PMID:16384925, PMID:16731599, PMID:16912224, PMID:17259998, PMID:18024392, PMID:18986703, PMID:19164557, PMID:19262599, PMID:19865100, PMID:21689725, PMID:22504184, PMID:23582185, PMID:23714533, PMID:24045550, PMID:25157968, PMID:26158763, PMID:26822237, PMID:27777718, PMID:28492532 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
SM-AHNMD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 disease_progression ISO DNA:mutations: : RGD PMID:24465546 RGD:11038711 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      skin disease 2765
        mastocytosis 8
          systemic mastocytosis 3
            SM-AHNMD 1
            aggressive systemic mastocytosis 0
            extracutaneous mastocytoma + 0
            indolent systemic mastocytosis 0
            mast-cell leukemia 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          Connective Tissue Neoplasms 1388
            mastocytosis 8
              systemic mastocytosis 3
                SM-AHNMD 1
                aggressive systemic mastocytosis 0
                extracutaneous mastocytoma + 0
                indolent systemic mastocytosis 0
                mast-cell leukemia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.