Human Phenotype Ontology 
Grandparent Node:
expandAcute leukemia (HP:0002488)help
Parent Node:
expandAcute lymphoblastic leukemia (HP:0006721)help
..Starting node
..expandPh-positive acute lymphoblastic leukemia (HP:0004848)help
Term ID: 4848
Name: Ph-positive acute lymphoblastic leukemia
Synonym: Ph-positive acute lymphoblastic leukaemia; Philadelphia-positive acute lymphoblastic leukaemia; Philadelphia-positive acute lymphoblastic leukemia
Definition: A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.
Comments:
Reference: HP:0004848
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandB Acute Lymphoblastic Leukemia (HP:0004812) help
..expandT-cell acute lymphoblastic leukemias (HP:0006727) 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:0004848HP:0004848Ph-positive acute lymphoblastic leukemia0ABL1 CL E G H2576OMIM:608232Leukemia, chronic myeloid.51
HP:0004848HP:0004848Ph-positive acute lymphoblastic leukemia0BCR CL E G H6131014OMIM:608232Leukemia, chronic myeloid.5


Genes (2) :ABL1 BCR

Diseases (1) :OMIM:608232
 

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