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primary myelofibrosis

Disease Summary
Associated Targets (26)
Tchem

15

Tclin

7

Tbio

4


GARD Rare
Mondo Description Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.
Uniprot Description A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly.
Disease Ontology Description A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.
Mondo Term and Equivalent IDs
MONDO:0009692:  primary myelofibrosis
COHD:133169: 
EFO:0002430: 
GARD:0008618: 
MESH:D055728: 
NCIT:C2862: 
ONCOTREE:PMF: 
Orphanet:824: 
UMLS:C0001815: 
UMLS:C0948968: 
UMLS:C2355576: