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mastocytosis

Disease Summary
Associated Targets (37)
Tchem

21

Tclin

8

Tbio

8


GARD Rare
Mondo Description A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.
Uniprot Description A severe form of mastocytosis characterized by abnormal proliferation and accumulation of mast cells in several organs, resulting in a systemic disease that may affect bone, gastrointestinal tract, lymphatics, spleen, and liver. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. It can also lead to mast cell leukemia, which carries a high risk of mortality.
Mondo Term and Equivalent IDs
MONDO:0007950:  mastocytosis
GARD:0006987: 
ICD10:Q82.2: 
MESH:D008415: 
NCIT:C84269: 
ONCOTREE:MCD: 
Orphanet:98292: 
UMLS:C0024899: