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juvenile myelomonocytic leukemia

Disease Summary
Associated Targets (21)
Tbio

14

Tclin

5

Tchem

2


GARD Rare
Mondo Description A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)
Uniprot Description An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Disease Ontology Description A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
Mondo Term and Equivalent IDs
MONDO:0011908:  juvenile myelomonocytic leukemia
EFO:1000309: 
GARD:0009884: 
MESH:D054429: 
NCIT:C9233: 
ONCOTREE:JMML: 
Orphanet:86834: 
SCTID:445227008: 
UMLS:C0349639: