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HUMAN PHENOTYPE - ANNOTATIONS
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The Human Phenotype Ontology (HPO) is downloaded weekly from
http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo
. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at
http://www.human-phenotype-ontology.org/
.
Term:
Acute monocytic leukemia
go back to main search page
Accession:
HP:0004845
browse the term
Definition:
The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.
Synonyms:
exact_synonym:
AML-M5; AMoL; Acute monoblastic leukaemia; Acute monoblastic leukemia; Acute monocytic leukaemia
alt_id:
HP:0004833
xref:
SNOMEDCT_US:22331004; SNOMEDCT_US:413441006; UMLS:C0023465
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Rat (0)
Mouse (0)
Human (5)
Chinchilla (0)
Bonobo (0)
Dog (0)
Squirrel (0)
Pig (0)
Green Monkey (0)
Naked Mole-rat (0)
All
Genes (4)
Variants (1)
Acute monocytic leukemia
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ELANE
elastase, neutrophil expressed
IAGP
HPO
MIM:202700
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
G
NF1
neurofibromin 1
IAGP
ClinVar Annotator: match by term: Acute monoblastic leukemia
ClinVar
PMID:25741868
PMID:28492532
PMID:29290338
PMID:33471991
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
G
RUNX1
RUNX family transcription factor 1
IAGP
HPO
MIM:601399
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
G
SPRED1
sprouty related EVH1 domain containing 1
IAGP
HPO
ORPHA:137605
NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
Term paths to the root
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Path 1
Term
Annotations
Human phenotype
95600
Phenotypic abnormality
95228
Abnormality of blood and blood-forming tissues
6599
Abnormal leukocyte morphology
3242
Leukemia
2547
Acute leukemia
2165
Acute monocytic leukemia
4
Path 2
Term
Annotations
Human phenotype
95600
Phenotypic abnormality
95228
Abnormality of the immune system
12684
Abnormal immune system morphology
3286
Abnormal cellular immune system morphology
3242
Abnormal leukocyte morphology
3242
Leukemia
2547
Acute leukemia
2165
Acute monocytic leukemia
4