Terminology Service for NFDI4Health
chronic myelogenous leukemia
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http://www.ebi.ac.uk/efo/EFO_0000339
A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. [ ]
Term info
Label
chronic myelogenous leukemia
Synonyms
- BCR-ABL Positive chronic myelogenous leukemia
- CML
- CML - chronic myelogenous leukemia
- chronic granulocytic leukemia
- chronic myelocytic leukemia
- chronic myelogenous leukemia
- chronic myelogenous leukemia (CML)
- chronic myelogenous leukemia, BCR-ABL1 Positive
- chronic myelogenous leukemia, BCR-ABL1 positive
- chronic myelogenous leukemias
- chronic myeloid leukemia
- hematopoeitic - chronic myelocytic leukemia (CML)
- leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation
- leukemia, chronic myeloid, Philadelphia chromosome positive, somatic
- myeloid leukemia, chronic
Subsets
ordo_disease
closeMatch
http://identifiers.org/meddra/10009013
exactMatch
http://linkedlifedata.com/resource/umls/id/C0023473, http://purl.obolibrary.org/obo/Orphanet_521, https://omim.org/entry/608232, http://purl.obolibrary.org/obo/DOID_8552, http://purl.obolibrary.org/obo/NCIT_C3174
gwas trait
true
has related synonym
leukemia, chronic myeloid, atypical, leukemia, chronic myelogenous, leukemia, chronic myeloid
id
EFO:0000339
see also
https://github.com/monarch-initiative/mondo/issues/4521