Human Phenotype Ontology 
Grandparent Node:
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Leukemia (HP:0001909)help
Parent Node:
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Myeloid leukemia (HP:0012324)help
..Starting node
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Chronic myelomonocytic leukemia (HP:0012325)help
Term ID: 12325
Name: Chronic myelomonocytic leukemia
Synonym: Chronic myelomonocytic leukaemia
Definition: A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.
Comments:
Reference: HP:0012325
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcute myelomonocytic leukemia (HP:0004820) help
..expandJuvenile myelomonocytic leukemia (HP:0012209) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012325HP:0012325Chronic myelomonocytic leukemia0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0012325HP:0012325Chronic myelomonocytic leukemia0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0012325HP:0012325Chronic myelomonocytic leukemia0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0012325HP:0012325Chronic myelomonocytic leukemia0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3


Genes (4) :ASXL1 KIT SRSF2 TET2

Diseases (1) :ORPHA:98849
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.